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Hydrated Minerals and Fluvial Features In and Around the Melas Chasma Basin  

NASA Astrophysics Data System (ADS)

Using a synergy of mineralogy derived from CRISM data and morphology interpreted from HiRISE and CTX images, we map geologic units within and around the Melas basin. Numerous hydrated minerals and fluvial features indicate a complex aqueous history.

Weitz, C. M.; Williams, R. M. E.; Noe Dobrea, E.; Baldridge, A.



Neuroradiological features of six kindreds with MELAS tRNALeu A3243G point mutation: implications for pathogenesis  

PubMed Central

OBJECTIVE—To determine the neuroradiological abnormalities associated with subjects carrying the mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes (MELAS) tRNALeu(UUR) A3243G point mutation?METHODS—Mitochondrial genetic analysis was performed on 24 subjects from six kindreds with the MELAS tRNALeu(UUR) A3243G point mutation. Cerebral CT and MRI were performed on 24 patients and 15 patients respectively. Previous neuroradiological investigations including cerebral CT from four deceased members of the families were also reviewed. Histological examination of postmortem specimens of two patients within the kindreds was performed.?RESULTS—The commonest radiological finding was basal ganglia calcification. Other abnormalities included focal lesions and cerebellar and cerebral atrophy. Basal ganglia calcification was progressive, symmetric, and asymptomatic. Histologically, basal ganglia calcification in one patient was found to be in the pericapillary regions of the globus pallidus, with no neuronal involvement. Focal lesions most commonly involved the grey matter of the parietal and occipital lobes and cerebellum. Histopathological examination suggested that these were due to cellular rather than vascular dysfunction. Enlargement of the fourth ventricle was the first sign of cerebellar atrophy. Cerebral and cerebellar atrophy were only present with severe disease.?CONCLUSIONS—These radiological findings, when considered in the context of the clinical and pathological findings, seem to reflect two major disease processes: an intermittent abrupt loss of function associated with cell injury from which there is at least partial recovery and a slowly progressive degenerative process causing basal ganglia calcification, and cerebral and cerebellar atrophy. The clinical and radiological features resulting from these processes are distinctive and provide insight into the consequences of mitochondrial dysfunction on the brain.??

Sue, C; Crimmins, D; Soo, Y; Pamphlett, R; Presgrave, C; Kotsimbos, N; Jean-Francois, M; Byrne, E; Morris, J



MELAS with prominent white matter gliosis and atrophy of the cerebellar granular layer: a clinical, genetic, and pathological study  

Microsoft Academic Search

This report concerns an autopsy case of mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes\\u000a (MELAS) with unusual neuropathological findings. The patient was a Japanese woman who was 21 years old at the time of death.\\u000a Her mother is a patient with genetically confirmed MELAS. Her clinical manifestations included convulsions and lactic acidosis\\u000a in the latter half of the first

K. Tsuchiya; H. Miyazaki; H. Akabane; M. Yamamoto; H. Kondo; H. Mizusawa; K. Ikeda



CT and MRI imaging of the brain in MELAS syndrome  

PubMed Central

Summary Background: MELAS syndrome (mitochondrial myopathy, encephalopathy, lactic acidosis, stroke-like episodes) is a rare, multisystem disorder which belongs to a group of mitochondrial metabolic diseases. As other diseases in this group, it is inherited in the maternal line. Case Report: In this report, we discussed a case of a 10-year-old girl with clinical and radiological picture of MELAS syndrome. We would like to describe characteristic radiological features of MELAS syndrome in CT, MRI and MR spectroscopy of the brain and differential diagnosis. Conclusions: The rarity of this disorder and the complexity of its clinical presentation make MELAS patients among the most difficult to diagnose. Brain imaging studies require a wide differential diagnosis, primarily to distinguish between MELAS and ischemic stroke. Particularly helpful are the MRI and MR spectroscopy techniques.

Pauli, Wojciech; Zarzycki, Artur; Krzysztalowski, Adam; Walecka, Anna



Clinical evaluation of the Modular Electromechanical Lock Actuator (MELA) for above-elbow prostheses: a final report.  


The Modular Electromechanical Lock Actuator (MELA) is the result of research and development (R&D) conducted under the direction of Dudley S. Childress, PhD, at the Northwestern University Prosthetics Research Laboratory (NUPRL), Chicago, Illinois. NUPRL, based upon experience with prostheses for persons with high-level, above-elbow amputations, developed the MELA to assist those persons with amputation who experience difficulty in operating existing manual elbows, whether with a conventional harness, nudge control, excursion amplifier, or other arrangement. Technology Transfer Section, VA Rehab R&D, with collaboration from Frederick Downs, Jr., Director, and John Clements, Prosthetic Regional Manager, VA National Prosthetic and Sensory Aids Service, managed a multicenter clinical evaluation of the MELA. The purpose was to objectively assess and affirm its performance, safety, clinical application, and commercial readiness. The following VA Prosthetic Treatment Centers served as evaluation sites: Baltimore, MD, Huntington, WV, and New York, NY. A VA-wide screening process yielded 10 candidates for review. A total of seven subjects met the selection criteria and were accepted for participation. In addition, several prosthetists provided their comments on the MELA. Overall, the performance of the MELA demonstrated that it could be fit to existing body-powered arms and used as an alternative control method for manual elbows. Consensus of participant feedback indicated general satisfaction and improved elbow lock function. In addition, several modifications were identified for the commercial version. The primary issues focused on 1) increasing speed (alternating response time); 2) unloading forearm (sometimes required to cycle the MELA); 3) providing mechanical back-up in case of unit failure; 4) reducing gear-motor noise; 5) improving integrity of wiring and retaining clip; and 6) marketing the MELA as a stand-alone product. Hosmer-Dorrance Corp., in collaboration with the developer, has indicated that resolution for most of the identified issues is readily achievable. Increasing speed (response time) and unloading forearm will require more investigation and consumer feedback from the commercial market. Based upon the clinical findings, the MELA was recommended for commercial production and availability, upon prescription, to appropriate veteran beneficiaries. PMID:8868418

Cupo, M E; Sheredos, S J



Sensorineural hearing loss in MELAS syndrome--case report.  


A mitochondrial tRNA mutation at nucleotide 3,243 is known to be found in most patients with MELAS (mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes). We report a 30 year-old female patient of MELAS, diagnosed 5 years ago, who presented herself to our ENT outpatient department because of her bilateral tinnitus and progressive hearing impairment since 4 years ago. Two sequential pure tone audiograms showed bilateral symmetrical progressive sensorineural hearing loss, especially in the high frequency area in 1993 and 1996. The pure tone average was R-45 dB, L-47 dB in 1993 and R-62 dB, L-67 dB in 1996. Hearing loss is an important feature in MELAS syndrome and reported to be seen in about 30% of patients. It is often the first clinical symptom, too. In any case, mitochondrial cytopathies need to be considered by the otologist in forming a diagnosis of sensorineural hearing loss (SNHL), particularly in cases, which present adult-onset progressive hearing loss and neurologic symptoms before 50 years of age. PMID:9780603

Chen, J N; Ho, K Y; Juan, K H



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Molecular neuropathology of MELAS: level of heteroplasmy in individual neurones and evidence of extensive vascular involvement.  


Mitochondrial DNA (mtDNA) disease is an important genetic cause of neurological disability. A variety of different clinical features are observed and one of the most common phenotypes is MELAS (Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis and Stroke-like episodes). The majority of patients with MELAS have the 3243A>G mtDNA mutation. The neuropathology is dominated by multifocal infarct-like lesions in the posterior cortex, thought to underlie the stroke-like episodes seen in patients. To investigate the relationship between mtDNA mutation load, mitochondrial dysfunction and neuropathological features in MELAS, we studied individual neurones from several brain regions of two individuals with the 3243A>G mutation using dual cytochrome c oxidase (COX) and succinate dehydrogenase (SDH) histochemistry, and Polymerase Chain Reaction Restriction Fragment Lenght Polymorphism (PCR-RFLP) analysis. We found a low number of COX-deficient neurones in all brain regions. There appeared to be no correlation between the threshold level for the 3243A>G mutation to cause COX deficiency within single neurones and the degree of pathology in affected brain regions. The most severe COX deficiency associated with the highest proportion of mutated mtDNA was present in the walls of the leptomeningeal and cortical blood vessels in all brain regions. We conclude that vascular mitochondrial dysfunction is important in the pathogenesis of the stroke-like episodes in MELAS patients. As migraine is a commonly encountered feature in MELAS, we propose that coupling of the vascular mitochondrial dysfunction with cortical spreading depression (CSD) might underlie the selective distribution of ischaemic lesions in the posterior cortex in these patients. PMID:16866982

Betts, J; Jaros, E; Perry, R H; Schaefer, A M; Taylor, R W; Abdel-All, Z; Lightowlers, R N; Turnbull, D M



Statins Provoking MELAS Syndrome  

Microsoft Academic Search

Background: Statins inhibit the production of 2,3-dimethoxy,5-methyl,6-polyisoprene parabenzoquinone also known as ubiquinone or coenzyme Q10 (CoQ10), which is required for mitochondrial electron transport. Idiopathic or primary CoQ10 deficiencies have been known to cause mitochondrial encephalomyopathy. Methods: We present the case of a patient with mitochondrial syndrome, consisting of mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS), whose symptoms were temporally

Joseph E. Thomas; Nora Lee; Paul D. Thompson



[Clinical features of neuroferritinopathy].  


Neuroferritinopathy is an autosomal dominant basal ganglia disease with iron accumulation caused by a mutation of the gene encoding ferritin light polypeptide (FTL). Six pathogenic mutations in the FTL gene have so far been reported. One such mutation was found in a Japanese family, thus suggesting that a new mutation in the FTL gene can therefore occur anywhere in the world. The typical clinical features of neuroferritinopathy are dystonia (especially orofacial dystonia related to speech and leading to dysarthrophonia) and involuntary movement, but such features vary greatly among the affected individuals. The findings of excess iron storage and cystic changes involving the globus pallidus and the putamen on brain MRI. and low serum ferritin levels are characteristic in neuroferritinopathy. Brain histochemistry shows abnormal aggregates of ferritin and iron throughout the central nervous system. Iron atoms are stored in the central cavity of the ferritin polymer and the E-helices of ferritin play an important role in maintaining the central cavity. A mutation in exon 4 of the FTL gene is known to alter the structure of E-helices, thereby leading to the release of free iron and excessive oxidative stress. Iron depletion therapy by iron chelation in symptomatic patients has not been shown to be beneficial, however before the nset of clinical symptoms, such a treatment strategy may still have some benefit. Neuroferritinopathy should therefore be considered in all patients presenting with basal ganglia disorders of unknown origin. These characteristic MRI findings may help to differentiate neuroferritinopathy from other diseases showing similar clinical features. PMID:19594102

Ohta, Emiko; Nagasaka, Takamura; Shindo, Kazumasa; Toma, Shinobu; Nagasaka, Kaori; Miwa, Michiaki; Takiyama, Yoshihisa; Shiozawa, Zenji



[Clinical feature of neuroferritinopathy].  


Neuroferritinopathy is an autosomal dominant, adult-onset disorder characterized by the deposition of iron and ferritin in the brain and a decreased level of serum ferritin. The disease is caused by mutations of the gene encoding ferritin light chain polypeptide. Seven pathogenic mutations have so far been reported, and two of the mutations were found in Japanese families. The mutations are predicted to affect tertiary structure and stability of the ferritin light chain polypeptide and may cause inappropriate iron release from feritin polymers. The excess iron may cause oxidative stress and lead to cell and tissue damage. The typical clinical features are dystonia and involuntary movement. Some patients may present cerebellar ataxia and cognitive decline. The clinical features appear to be restricted to the nervous system. The variety of MRI findings including T(2) hypointense lesions reflecting iron deposits, cystic degeneration of the basal ganglia, and cortical atrophy are characteristic of neuroferritinopathy. Iron depletion therapy by iron chelation in symptomatic patients has not been shown to be beneficial. Recent study shows the iron deposition in neuroferritinopathy begins in early childhood before symptomatic presentation. This finding suggests the importance of early intervention of therapy. PMID:23196480

Ohta, Emiko



Adult-onset of mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (melas) syndrome presenting as acute meningoencephalitis: a case report  

Microsoft Academic Search

Background: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome is a rare mitochondrial disorder with a wide range of multisystemic symptoms. Epileptic seizures are common features of both MELAS and meningoencephalitis and are typically treated with anticonvulsants. Objectives: To provide the reader with a better understanding of MELAS and the adverse effects of valproic acid. Case Report: A

Yu-Chuan Hsu; Fu-Chi Yang; Cherng-Lih Perng; An-Chen Tso; Lee-Jun C. Wong; Chang-Hung Hsu



Clinical features of influenza.  


Influenza, an acute, usually self-limited, febrile illness of global importance, appears virtually every year and infects the respiratory tract either sporadically, as a local outbreak, or as a widespread epidemic. The most severe outbreak known, the 1918 to 1919 influenza A pandemic, was responsible for an estimated 20 million deaths globally. In the United States, the influenza pandemics of 1957 and 1968 were associated with an attack rate of up to 50% and an estimated 100,000 deaths. Interpandemic influenza is responsible for considerable morbidity and mortality, which exceed that associated with the introduction of the pandemic strain. Influenza B infections resemble those due to influenza A, but are associated with fewer deaths. Features of influenza include headache, myalgia, malaise, anorexia, sore throat, nonproductive cough, sneezing, and nasal discharge; these symptoms are not pathognomic for influenza, and asymptomatic infection can occur. The pulmonary complications of influenza include pneumonia (viral and bacterial), croup, asthma, and bronchitis. Myocarditis and pericarditis are occasional cardiac complications. In addition to Reye's syndrome, a range of neurologic complications have been noted, including confusion, convulsions, psychosis, neuritis, Guillain-Barré syndrome, coma, transverse myelitis, and encephalomyelitis. Influenza has also been associated with the toxic shock syndrome, myositis, myoglobinuria, and renal failure. In view of its enormous human and economic toll, influenza remains a major target for improved vaccines and vaccine delivery, and antiviral treatment and prophylaxis. PMID:1609165

Nicholson, K G



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Clinical Features of Friedreich Ataxia  

PubMed Central

Friedreich ataxia, the most common hereditary ataxia, affects about 1:29 000 Caucasians. In about 98% of these individuals it is due to homozygosity for a GAA trinucleotide repeat expansion in intron 1 of FXN; in the other 2% it is due to compound heterozygosity for a GAA expansion and point mutation or deletion. The condition affects multiple sites in the central and peripheral nervous system as well as a number of other organ systems, resulting in multiple signs and symptoms. Onset of this autosomal recessive condition is usually in the first 2 decades of life. Major clinical features include progressive ataxia, absent lower limb reflexes, upgoing plantar responses, and peripheral sensory neuropathy. The main non-neurological sites of morbidity are the heart, resulting in cardiomyopathy, and the pancreas, resulting in diabetes mellitus. In this review, we provide an overview of the clinical features of Friedreich ataxia and discuss differential diagnoses.

Delatycki, Martin B; Corben, Louise A



[Rotavirus: clinical features and prevention  


OBJECTIVES: This report was prepared with the main objective of making an extensive review of both clinical features and prevention of rotavirus gastroenteritis. In addition, it provides an evaluation about the potential for introduction of the tetravalent rhesus-human reassortant rotavirus vaccine (RRV-TV) in the developing countries. METHODS: The main source of information was the most relevant articles published in both national and international journals, as well as selected official reports from the World Health Organization. With regard to rotavirus vaccines, particular emphasis has been placed on the results available from studies carried out during the past five years. Notice we have stressed the epidemiological features of rotavirus infections in Brazil. RESULTS: As a background for the main subjects of this report - clinical features and prevention - available general information on rotavirus infections are briefly discussed in the Introduction. This includes an overview of the etiological agent, epidemiology, immunity and laboratory diagnosis. A detailed description of the typical symptomatic syndrome is made, as well as of other (unusual) clinical manifestations of rotavirus illness. We also discuss the rotavirus candidate vaccines that have been evaluated to date, highlighting the most significant observations which resulted from field trials with the RRV-TV in several countries. The potential for large-scale use of RRV-TV in developing countries is also discussed, focusing mainly on the epidemiological characteristics of rotavirus disease in these regions. CONCLUSION: Rotaviruses are the leading cause of severe gastroenteritis in infants and young children in both industrialized and lessdeveloped countries; in the latter regions, rotavirus diarrhoeal disease represents a major cause of mortality. There is currently a consensus that attempts at prevention need to be directed toward the development of an effective rotavirus vaccine, for large-scale use, that would primarily protect children (aged 0 to 2 years) against severe rotavirus gastroenteritis. In this regard, results from a recent reevaluation of the Peruvian and Brazilian lower-titer RRV-TV efficacy data are promising. Although the RRV-TV ("Rotashield(R)") (recently licensed for general use in U.S.A.) seems to be currently the most promising rotavirus vaccine, it has been suggested that further trials with this vaccine should be conducted in Africa and Asia (efficacy studies) and Latin America [immunogenicity and effectiveness (efficacy under real conditions in a given setting)]. In addition, it is of paramount importance to establish in these regions a surveillance system to monitor the circulating rotavirus strains. PMID:14685487

Oliveira, C S; Linhares, A C



Transient ischemic attack-like episodes without stroke-like lesions in MELAS.  


A stroke-like episode is a core symptom in mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS). Proton magnetic resonance spectroscopy ((1)H-MRS) is useful in the diagnosis of mitochondrial diseases. We report an 8-year-old girl with MELAS, presenting with a seizure and blindness. (1)H-MRS showed a strikingly elevated lactate peak in the right occipital region, where no abnormal signals appeared on either T2-W or diffusion-weighted MRI. She recovered completely within a day. We describe this mild clinical condition with abnormal lactate peak in normal-appearing gray matter as a transient ischemic attack-like episode in MELAS. PMID:23677422

Mitani, Tadahiro; Aida, Noriko; Tomiyasu, Moyoko; Wada, Takahito; Osaka, Hitoshi



Joint impingement syndrome: clinical features  

Microsoft Academic Search

Joint impingement is a painful syndrome caused by the friction of joint tissues, which is both the cause and the effect of altered joint biomechanics. From the anatomical and clinical viewpoints, these syndromes are classified as bone impingement, soft tissue impingement and entrapment neuropathy, depending on what joint portion impinges on the others. We considered the most important impingement syndromes

Andrea Billi; Alessia Catalucci; Antonio Barile; Carlo Masciocchi



Clinical features of hepatitis D.  


Hepatitis D is caused by infection with hepatitis D virus (HDV), a defective RNA virus that requires the obligatory helper function of hepatitis B virus (HBV) for its in vivo transmission. Thus, HDV is acquired only by coinfection with HBV or by superinfection of an HBV carrier. The clinical outcome of hepatitis D differs according to the modality of infection. Whereas coinfection evolves to chronicity in only 2% of the cases, superinfection results in chronic infection in over 90% of the cases. HDV is a highly pathogenic virus that causes acute, often fulminant hepatitis, as well as a rapidly progressive form of chronic viral hepatitis, leading to cirrhosis in 70 to 80% of the cases. The clinical picture of HDV disease is evolving as a consequence of a significant change in the epidemiology of HDV infection, which has led to a significant decline in incidence in Western countries, mainly as a result of universal HBV vaccination programs. However, in the face of a declining prevalence in areas of old endemicity like Europe, immigration poses a threat of HDV resurgence. The interaction of HDV with other hepatitis viruses or human immunodeficiency virus is complex and may lead to different patterns in terms of virologic expression and immunologic responses. Multiple viral infections are associated with rapid progression of liver fibrosis and eventually with the development of hepatocellular carcinoma. Hepatitis D is not a vanishing disease, and continuous efforts should be made to improve its prevention and treatment. PMID:22932971

Farci, Patrizia; Niro, Grazia Anna



Schizophrenia in Mental Retardation: Clinical Features.  

ERIC Educational Resources Information Center

The literature on schizophrenia in individuals with mental retardation is reviewed, and the clinical features, symptomatology, diagnostic parameters, and treatment approaches are briefly discussed. Data are presented about prevalence rates, degree of mental retardation, male/female distribution, and age of onset. (Author/PB)

Reid, Andrew H.



Agrypnia excitata: clinical features and pathophysiological implications  

Microsoft Academic Search

Fatal familial insomnia, Morvan's chorea and delirium tremens share the same clinical features: severe insomnia and mental confusion with dream enactment, associated with motor and autonomic activation. Polygraphically, they share an inability to generate slow wave sleep. Agrypnia excitata is the term which aptly defines this peculiar medical condition. In fatal familial insomnia, the syndrome is due to a functional

Elio Lugaresi; Federica Provini



Social class and mood disorders: clinical features  

Microsoft Academic Search

We examined clinical features in 877 in- und outpatients affected by depression who were enrolled in psychopharmacological trials, subdivided according to Hollingshead's method into five social classes. The results showed that social class correlated significantly with the subtypes of mood disorders, with bipolar disorder being more frequent amongst the upper than the lower social classes. Furthermore, as already reported in

A. Lenzi; F. Lazzerini; D. Marazziti; S. Raffaelli; G. Rossi; G. B. Cassano



Fibrolamellar hepatocarcinoma: Clinical, radiologic, and pathologic features  

Microsoft Academic Search

Three new cases of an unusual subtype of hepatocellular carcinoma (HCC) referred to as fibrolamellar hepatocarcinoma (FLHC) recently seen at our institution are described. This report focuses on the clinical, radiologic, and pathologic features of this rare subset of HCC. All three patients were under 30 years of age with no previous history of hepatitis or cirrhosis. Each had had

Isaac R. Francis; Farooq P. Agha; Norman W. Thompson; David F. Keren



Nasolabial cysts: clinical features, diagnosis, and treatment.  


The aim of this study was to review our experience, examine the clinical and pathological features of nasolabial cysts, and to provide a basis for the diagnosis and treatment in an Asian population. We made a retrospective review of patients with nasolabial cysts who were treated at the Department of Otolaryngology, Tan Tock Seng Hospital between January 1999 and December 2004. Clinical data, presenting symptoms, clinical features, pathological findings, preoperative investigations, treatment, and outcome were analysed for each case. We found 17 patients with nasolabial cysts. The findings of adult onset, higher incidence among women and preponderance on the left side confirmed current opinion. The clinical diagnosis of nasolabial cyst was accurate in all cases. Preoperative computed tomograms (CTs) done for one patient did not alter the management. All patients had the cysts excised completely through a sublabial incision. Breaches of the nasal vestibular mucosa healed spontaneously without repair. Histopathological examination showed that cysts were lined with pseudostratified columnar (n=9), stratified squamous (n=4), mixed respiratory and squamous epithelium (n=3), and simple cuboidal epithelium (n=1). No patient developed complications or recurrences. Nasolabial cysts are relatively common in Singapore, and the diagnosis must be kept in mind if they are to be treated early. Diagnosis is based on clinical features and the treatment of choice is complete excision. PMID:17030357

Yuen, Heng-Wai; Julian, Cheow-Yew Lee; Samuel, Chow-Lin Yeak



Clinical features of symptomatic patellofemoral joint osteoarthritis  

PubMed Central

Introduction Patellofemoral joint osteoarthritis (OA) is common and leads to pain and disability. However, current classification criteria do not distinguish between patellofemoral and tibiofemoral joint OA. The objective of this study was to provide empirical evidence of the clinical features of patellofemoral joint OA (PFJOA) and to explore the potential for making a confident clinical diagnosis in the community setting. Methods This was a population-based cross-sectional study of 745 adults aged ?50 years with knee pain. Information on risk factors and clinical signs and symptoms was gathered by a self-complete questionnaire, and standardised clinical interview and examination. Three radiographic views of the knee were obtained (weight-bearing semi-flexed posteroanterior, supine skyline and lateral) and individuals were classified into four subsets (no radiographic OA, isolated PFJOA, isolated tibiofemoral joint OA, combined patellofemoral/tibiofemoral joint OA) according to two different cut-offs: 'any OA' and 'moderate to severe OA'. A series of binary logistic and multinomial regression functions were performed to compare the clinical features of each subset and their ability in combination to discriminate PFJOA from other subsets. Results Distinctive clinical features of moderate to severe isolated PFJOA included a history of dramatic swelling, valgus deformity, markedly reduced quadriceps strength, and pain on patellofemoral joint compression. Mild isolated PFJOA was barely distinguished from no radiographic OA (AUC 0.71, 95% CI 0.66, 0.76) with only difficulty descending stairs and coarse crepitus marginally informative over age, sex and body mass index. Other cardinal signs of knee OA - the presence of effusion, bony enlargement, reduced flexion range of movement, mediolateral instability and varus deformity - were indicators of tibiofemoral joint OA. Conclusions Early isolated PFJOA is clinically manifest in symptoms and self-reported functional limitation but has fewer clear clinical signs. More advanced disease is indicated by a small number of simple-to-assess signs and the relative absence of classic signs of knee OA, which are predominantly manifestations of tibiofemoral joint OA. Confident diagnosis of even more advanced PFJOA may be limited in the community setting.



Electroencephalographic and clinical features of cerebral malaria  

PubMed Central

BACKGROUND—Seizures are a prominent feature of childhood cerebral malaria, and are associated with an increased risk of death and neurological sequelae. We present the electroencephalographic (EEG) findings from a detailed clinical and electrophysiological study.?METHODS—Children with cerebral malaria had EEGs recorded within six hours of admission, and at 12 hourly intervals until recovery of consciousness. Ten deeply comatose children underwent intracranial pressure monitoring. Children were not mechanically ventilated, which made it possible to directly correlate the clinical and EEG findings.?RESULTS—Of 65 children aged 9 months and above, 40 had one or more seizures, and 18 had an episode of status epilepticus. Most seizures were partial motor, and spike wave activity consistently arose from the posterior temporo-parietal region, a border zone area lying between territories supplied by the carotid and vertebrobasilar circulations. Fifteen children had seizures that were clinically subtle or electrographic. Clinical seizures were associated with an abrupt rise in intracranial pressure. Fifty children recovered fully, seven died, and eight had persistent neurological sequelae. Initial EEG recordings of very slow frequency, or with background asymmetry, burst suppression, or interictal discharges, were associated with an adverse outcome.?CONCLUSIONS—Serial EEG recording has uncovered a range of clinical, subtle, and electrographic seizures complicating childhood cerebral malaria, and has emphasised their importance in the pathogenesis of coma. Further work is required to determine the most appropriate regimen for the prophylaxis and treatment of seizures in cerebral malaria, in order to improve outcome.??

Crawley, J; Smith, S; Muthinji, P; Marsh, K; Kirkham, F



The Amyloidoses: Clinical Features, Diagnosis and Treatment  

PubMed Central

Amyloidosis is a rare disorder in which insoluble amyloid proteins are deposited in body organs, causing abnormal protein build-up in tissues and eventually leading to organ dysfunction and death. It affects less than 200,000 people in the United States, classifying it as a rare disease according to the National Institutes of Health. Definitive determination of the underlying protein is critical since prognosis and treatment of amyloidosis can vary widely depending on the responsible protein. The following paper describes the various types and clinical features of amyloidosis and provides an overview of current diagnostic tools and therapies.

Baker, Kelty R.; Rice, Lawrence



The amyloidoses: clinical features, diagnosis and treatment.  


Amyloidosis is a rare disorder in which insoluble amyloid proteins are deposited in body organs, causing abnormal protein build-up in tissues and eventually leading to organ dysfunction and death. It affects less than 200,000 people in the United States, classifying it as a rare disease according to the National Institutes of Health. Definitive determination of the underlying protein is critical since prognosis and treatment of amyloidosis can vary widely depending on the responsible protein. The following paper describes the various types and clinical features of amyloidosis and provides an overview of current diagnostic tools and therapies. PMID:23227278

Baker, Kelty R; Rice, Lawrence


The clinical features of rheumatoid arthritis.  


Rheumatoid arthritis (RA) is a chronic inflammatory disease characterized by progressive damage of synovial-lined joints and variable extra-articular manifestations. Tendon and bursal involvement are frequent and often clinically dominant in early disease. RA can affect any joint, but it is usually found in metacarpophalangeal, proximal interphalangeal and metatarsophalangeal joints, as well as in the wrists and knee. Articular and periarticular manifestations include joint swelling and tenderness to palpation, with morning stiffness and severe motion impairment in the involved joints. The clinical presentation of RA varies, but an insidious onset of pain with symmetric swelling of small joints is the most frequent finding. RA onset is acute or subacute in about 25% of patients, but its patterns of presentation also include palindromic onset, monoarticular presentation (both slow and acute forms), extra-articular synovitis (tenosynovitis, bursitis), polymyalgic-like onset, and general symptoms (malaise, fatigue, weight loss, fever). The palindromic onset is characterized by recurrent episodes of oligoarthritis with no residual radiologic damage, while the polymyalgic-like onset may be clinically indistinguishable from polymyalgia rheumatica in elderly subjects. RA is characteristically a symmetric erosive disease. Although any joint, including the cricoarytenoid joint, can be affected, the distal interphalangeal, the sacroiliac, and the lumbar spine joints are rarely involved. The clinical features of synovitis are particularly apparent in the morning. Morning stiffness in and around the joints, lasting at least 1 h before maximal improvement is a typical sign of RA. It is a subjective sign and the patient needs to be carefully informed as to the difference between pain and stiffness. Morning stiffness duration is related to disease activity. Hand involvement is the typical early manifestation of rheumatoid arthritis. Synovitis involving the metacarpophalangeal, proximal interphalangeal and wrist joints causes a characteristic tender swelling on palpation with early severe motion impairment and no radiologic evidence of bone damage. Fatigue, feveret, weight loss, and malaise are frequent clinical signs which can be associated with variable manifestations of extra-articular involvement such as rheumatoid nodules, vasculitis, hematologic abnormalities, Felty's syndrome, and visceral involvement. Although there is no laboratory test to exclude or prove the diagnosis of rheumatoid arthritis, several laboratory abnormalities can be detected. Abnormal values of the tests for evaluation of systemic inflammation are the most typical humoral features of RA. These include: erythrocyte sedimentation rate, acute phase proteins and plasma viscosity. Erythrocyte sedimentation rate and C-reactive protein provide the best information about the acute phase response. The C-reactive protein is strictly correlated with clinical assessment and radiographic changes. Plain film radiography is the standard investigation to assess the extent of anatomic changes in rheumatoid arthritis patients. The radiographic features of the hand joints in early disease are characterized by soft tissue swelling and mild juxtaarticular osteoporosis. In the the past 10 years, ultrasonography has gained acceptance for studying joint, tendon and bursal involvement in RA. It may improve the early clinical assessment and the follow-up of these patients, showing such details as synovial thickening even within finger joints. Other imaging techniques, such as magnetic resonance, computed tomography and scintigraphy may provide useful information about both the features and the extent for anatomic damage in selected rheumatoid arthritis patients. The natural history of the disease is poorly defined; its clinical course is fluctuating and the prognosis unpredictable. RA is an epidemiologically relevant cause of disability. An adequate early treatment of RA may alter the diseas PMID:9652497

Grassi, W; De Angelis, R; Lamanna, G; Cervini, C



Status epilepticus. Clinical features, pathophysiology, and treatment.  

PubMed Central

During the past two decades, substantial progress has been made in the understanding of the clinical features, classification, pathophysiology, central nervous system consequences, and treatment of status epilepticus. The most commonly used drug regimens have advantages and disadvantages, and, in this review, I recommend a protocol for the treatment of status epilepticus. An important concept in the approach to patients in generalized tonic-clonic status epilepticus is that treatment should be administered within a predetermined time frame. Clinical and experimental research indicates that continuous seizure activity for longer than 60 to 90 minutes may result in irreversible brain damage. As our understanding of the basic mechanisms of neuronal function and seizure generation advances, it is expected that more specific and novel approaches to the treatment of status epilepticus will emerge.

Watson, C.



Clinical features of pediatric Graves' orbitopathy.  


Pediatric Graves' orbitopathy is rare, thus its clinical picture is less well defined in comparison with the adult population. Therefore it is our aim to describe the clinical spectrum at our tertiary referral center. We identified 11 patients under the age of 18 years (3?, 8?; range 3-16 years, mean age 14.5 years) with Graves' disease and signs of orbitopathy. Seven of them where reevaluated (mean follow-up 25 months, range 3-66 months). Eyelid retraction and proptosis were the predominant signs in 10/11 of our patients. In six patients, Hertel readings ranged from 22 mm or above. Mild ocular motility impairment was seen in four children. Active orbitopathy or severe impairment of visual acuity/ocular motility, corneal or optic nerve involvement was not observed in our study. Our series confirms that pediatric Graves' orbitopathy lacks significant inflammatory features; however, proptosis is common and may be marked. All seven patients who were reevaluated did not show any clinically significant change of ocular signs during the observation period. In particular, there was no improvement of proptosis despite restoration of euthyroidism. PMID:20191374

Eha, J; Pitz, S; Pohlenz, J



[Clinical features of Q-fever pneumonia].  


A retrospective study was undertaken to investigate the clinical aspects of Q-fever pneumonia. Six sporadic cases, 5 men and 1 woman, aged between 36 and 81 years were diagnosed by testing paired serum samples using an indirect immunofluorescence assay from July 2004 to June 2007. Of these, 5 suffered from concomitant or chronic disease. The predominant clinical features were fever, cough, sputum, and chest pain. The WBC count was within normal values in half of the patients. C-reactive protein was elevated in all patients. Liver dysfunction was noted in 2 patients. Chest computed tomography revealed air space consolidation and small nodules in all patients and pleural effusion in 1 patient. Anti-phase II IgG titers of paired serum samples were elevated, but anti-phase II IgM titers were within normal limits in all the patients. Antibiotics were given to all the patients, and, beta-lactum agents were prescribed for 3 patients. The outcome was favorable in all the patients. These patients demonstrated nonspecific clinical, radiological, and laboratory manifestations, and we were able to distinguish Q-type pneumonia from other forms of community-acquired pneumonia only by testing anti-phase II IgG titers of paired serum samples. PMID:19195195

Takiguchi, Yasuo; Ishikawa, Satoru; Shinbo, Yukiko



MelaFind P090012 October 22, 2010 ADDENDUM to ...  

Center for Biologics Evaluation and Research (CBER)

Text Version... dermatologic associations, patient advocacy groups, health and beauty magazines, and ... Points of Disagreement Between FDA and MELA Sciences ... More results from


Clinical features of sporadic fatal insomnia.  


Recent advances in neuropathology, genotyping, and physiochemical characterization of proteins have allowed for the classification and verification of MM2-thalamic Creutzfeldt-Jakob disease (CJD). CJD is a fatal neurodegenerative illness belonging to the transmissible spongiform encephalopathies, also known as prion diseases. Sporadic CJD is generally classified by the genotype at codon 129 of the prion protein gene and the distinct physiochemical features of the pathologic prion protein (PrP(sc)). The entity is characterized by methionine homozygosity at codon 129, type 2 PrP(sc), and, primarily, thalamic pathology (MM2-thalamic CJD). It shares clinical and pathologic similarities with the genetic prion disorder fatal familial insomnia; the MM2-thalamic phenotype has therefore been called sporadic fatal insomnia (SFI). SFI may also present like other neurodegenerative diseases, and common diagnostic findings that are seen in other forms of sporadic CJD may be absent. PMID:19898273

Barash, Jed A



Unilateral cerebellar hypoplasia with different clinical features.  


Unilateral cerebellar hypoplasia (UCH) is a rare pathological condition characterized by the loss of volume in cerebellar hemispheres ranging from mild asymptomatic to severe symptomatic cases. As the designation of UCH remains problematic, the underlying etiopathogenesis also lacks explanation. We investigated the patients admitted to Departments of Child Neurology, Neurology, and Genetics between the years 1992 and 2010 and detected 12 patients with unilateral cerebellar volume loss, with the exclusion of all other cerebellar pathologies. The ages of patients ranged between 6 months to 55 years. Five patients had a delay in developmental milestones, and one of these was diagnosed with neurofibromatosis type 1. Two patients had epileptic seizures, one patient had peripheral facial paralysis as a component of Moebius syndrome, and four patients were incidentally diagnosed during etiological work-up for headache. The clinical outcomes of patients varied from healthy subjects to marked developmental impairment. Radiologically, five patients had severe disproportionate UCH, six had moderate disproportionate, and one had mild proportionate UCH. Cerebellar peduncles were affected in all, and vermis was partly hypoplastic in eight patients. Brainstem was involved in four patients, and seven patients showed involvement of white matter and/or corpus callosum. Imaging features supported that patients with severe disproportionate UCH also displayed additional cerebral and commissural changes, which were related to ischemic or vascular injuries, implying a prenatally acquired disruption. In the presence of such a wide spectrum of clinical and radiological features, a prenatally acquired lesion and, thus, a disruption seem to be more explanatory rather than a primary developmental process or malformation in the etiopathogenesis of unilateral cerebellar hypoplasia. PMID:20967575

Benbir, Gulcin; Kara, Simay; Yalcinkaya, Beyza Citci; Karhkaya, Geysu; Tuysuz, Beyhan; Kocer, Naci; Yalcinkaya, Cengiz



Catatonia in Psychotic Patients: Clinical Features and Treatment Response  

PubMed Central

We report clinical features and treatment response in 25 patients with catatonia admitted to an inpatient psychiatric unit specializing in psychotic disorders. ECT, benzodiazepines, and clozapine had beneficial effects on catatonic features, while typical antipsychotics resulted in clinical worsening.

England, Mary L.; Ongur, Dost; Konopaske, Glenn T.; Karmacharya, Rakesh



Agrypnia excitata: clinical features and pathophysiological implications.  


Fatal familial insomnia, Morvan's chorea and delirium tremens share the same clinical features: severe insomnia and mental confusion with dream enactment, associated with motor and autonomic activation. Polygraphically, they share an inability to generate slow wave sleep. Agrypnia excitata is the term which aptly defines this peculiar medical condition. In fatal familial insomnia, the syndrome is due to a functional imbalance between activating and deactivating structures within the limbic system provoked by the atrophy of the mediodorsal and anteroventral thalamic nuclei. In Morvan's chorea and delirium tremens, a functional imbalance within the thalamolimbic circuits might be explained by the accumulation of some antireceptor antibodies and by a transient prevalence of excitatory over inhibitory synapses, down-regulated by chronic alcohol abuse, respectively. The selective disappearance of slow sleep (i.e. sleep spindles and delta rhythms) characterizing the agrypnia excitata syndrome, together with other clinical and experimental findings, suggests that sleep can be divided into three types. The most archaic form of sleep corresponding to stage 1 non-REM sleep is shared by man and poikilothermic animals and generated within activating and deactivating neuronal poles located in the basal forebrain, hypothalamus and brain stem; the other two forms of sleep, slow wave sleep and paradoxical sleep, confined to homeothermic animals, are generated in the thalamus and pontine reticular formation respectively. 2001 Harcourt Publishers Ltd PMID:12530995

Lugaresi, Elio; Provini, Federica




PubMed Central

Background Our objective was to document the clinical and imaging features of Othello's syndrome (delusional jealousy). Methods The study design was a retrospective case series of 105 patients with Othello's syndrome that were identified by using the Electronic Medical Record system of Mayo Clinic. Results The average age at onset of Othello's syndrome was 68 (25–94) years with 61.9% of patients being male. Othello's syndrome was most commonly associated with a neurological disorder (73/105) compared with psychiatric disorders (32/105). Of the patients with a neurological disorder, 76.7% had a neurodegenerative disorder. Seven of eight patients with a structural lesion associated with Othello's syndrome had right frontal lobe pathology. Voxel-based morphometry showed greater grey matter loss predominantly in the dorsolateral frontal lobes in the neurodegenerative patients with Othello's compared to matched patients with neurodegenerative disorders without Othello's syndrome. Treatment success was notable for patients with dopamine agonist induced Othello's syndrome in which all six patients had improvement in symptoms following decrease in medication. Conclusions This study demonstrates that Othello's syndrome occurs most frequently with neurological disorders. This delusion appears to be associated with dysfunction of the frontal lobes, especially right frontal lobe.

Graff-Radford, Jonathan; Whitwell, Jennifer L.; Geda, Yonas E.; Josephs, Keith A.



The clinical features of the Cohen syndrome: further case reports.  

PubMed Central

We report the clinical features of six patients with the Cohen syndrome. The characteristic features include mental retardation, truncal obesity, prominent incisors, and tapering digits. Pelviureteric obstruction and epilepsy are reported as possible new features of this syndrome. Images

North, C; Patton, M A; Baraitser, M; Winter, R M



Total intravenous anesthesia with propofol and remifentanil in a patient with MELAS syndrome -A case report-  

PubMed Central

A 23-year-old woman with MELAS (mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes) underwent a laparoscopy-assisted appendectomy. MELAS syndrome is a multisystemic disease caused by mitochondrial dysfunction. General anesthesia has several potential hazards to patients with MELAS syndrome, such as malignant hyperthermia, hypothermia, and metabolic acidosis. In this case, anesthesia was performed with propofol, remifentanil TCI, and atracurium without any surgical or anesthetic complications. We discuss the anesthetic effects of MELAS syndrome.

Park, Jin Suk; Kang, Hyun; Cha, Su Man; Park, Jung Won; Jung, Yong Hun; Woo, Young-Cheol



Female sex offenders: Clinical and demographic features  

Microsoft Academic Search

This paper provides clinical and demographic data on 12 female child sex offenders in the correctional system in Victoria. Information was obtained through clinical assessments completed whilst women were incarcerated or in the community setting and from sentencing comments. An analysis of this information revealed that the characteristics of these women and their offences generally fitted the profile of female

Pamela Nathan; Tony Ward



Design Features and Clinical Performance of Biomet MoM ...  

Center for Biologics Evaluation and Research (CBER)

Text VersionDesign Features and Clinical Performance of Biomet MoM Total Hip Arthroplasty ... Global Experience on Biomet MoM THA Clinical Performance ... More results from


Clinical features and diagnosis of venous thrombosis  

SciTech Connect

The clinical diagnosis of venous thrombosis is inaccurate because the clinical findings are both insensitive and nonspecific. The sensitivity of clinical diagnosis is low because many potentially dangerous venous thrombi are clinically silent. The specificity of clinical diagnosis is low because the symptoms or signs of venous thrombosis all can be caused by nonthrombotic disorders. A current approach to the diagnosis of clinically suspected venous thrombosis favors the use of impedance plethysmography over Doppler ultrasonography as the main test for this disorder. This is because impedance plethysmography is precise and objective, whereas the interpretation of Doppler ultrasonography is subjective and requires considerable skill and experience to form reliable diagnoses. The use of serial impedance plethysmography has been evaluated recently in a prospective study. The rationale of repeated impedance plethysmography evaluation is based on the premise that calf vein thrombi are only clinically important when they extend into the proximal veins, at which point detection with impedance plethysmography is possible. Therefore, by performing repeated examinations with impedance plethysmography in patients with clinically suspected venous thrombosis, it is possible to identify patients with extending calf vein thrombosis who can be treated appropriately. Impedance plethysmography is performed immediately on referral; if it is positive in the absence of clinical conditions that are known to produce falsely positive results, the diagnosis of venous thrombosis is established, and the patient is treated accordingly. If the result of the initial impedance plethysmography evaluation is negative, anticoagulant therapy is withheld, and impedance plethysmography is repeated the following day, again on day 5 to 7 and on day 10 to 14. 87 references.

Hirsh, J.; Hull, R.D.; Raskob, G.E.



Eating disorders: clinical features and pathophysiology  

Microsoft Academic Search

Anorexia nervosa (AN) and bulimia nervosa (BN) are disorders of eating and weight-related behavior that together afflict some 1–3% of women in the United States. One of the remarkable features about each of the eating disorders is how persistent the disordered eating behavior becomes once it has begun. Substantial psychological, social, and physiological disturbances are associated with eating disorders, and

Diane Alix Klein; B. Timothy Walsh



Clinical and Microbiological Features of Necrotizing Fasciitis  

Microsoft Academic Search

The microbiological and clinical characteristics of 83 patients with necrotizing fasciitis (NF) treated over a period of 17 years are presented. Bacterial growth was noted in 81 of 83 (98%) of specimens from patients with NF. Aerobic or facultative bacteria only were recovered in 8 (10%) specimens, anaerobic bacteria only were recovered in 18 (22%) specimens, and mixed aerobic-anaerobicfloras were




Clinical and Laboratory Features of Mycobacterium mageritense  

Microsoft Academic Search

Six clinical isolates of the nonpigmented, rapidly growing species Mycobacterium mageritense were recovered from sputum, bronchial wash, blood, sinus drainage, and two surgical wound infections from separate patients in Texas, New York, Louisiana, and Florida. The isolates matched the ATCC type strain by PCR restriction enzyme analysis of the 65-kDa hsp gene sequence of Telenti, high-performance liquid chromatography, bio- chemical

Richard J. Wallace Jr; Barbara A. Brown-Elliott; Leslie Hall; Glenn Roberts; Rebecca W. Wilson; Linda B. Mann; Christopher J. Crist; Sher H. Chiu; Robbie Dunlap; Maria J. Garcia; J. Todd Bagwell; Kenneth C. Jost Jr


Antioxidant responses and bioaccumulation in Ictalurus melas under mercury exposure  

Microsoft Academic Search

Laboratory experiment was carried out to determine mercury accumulation in tissues (gills, kidneys, liver, and muscle) and biochemical responses in the liver of freshwater teleost Ictalurus melas. Catfish were subjected to different concentrations of Hg2+ (35, 70, and 140?g\\/L) for 10 days. The chemical analyses showed higher mercury concentrations for all treatments in gills and kidneys followed by liver and

Antonia Concetta Elia; Roberta Galarini; Maria Illuminata Taticchi; Ambrosius Josef Martin Dörr; Luciana Mantilacci



Cortical auditory disorders: clinical and psychoacoustic features.  

PubMed Central

The symptoms of two patients with bilateral cortical auditory lesions evolved from cortical deafness to other auditory syndromes: generalised auditory agnosia, amusia and/or pure word deafness, and a residual impairment of temporal sequencing. On investigation, both had dysacusis, absent middle latency evoked responses, acoustic errors in sound recognition and matching, inconsistent auditory behaviours, and similarly disturbed psychoacoustic discrimination tasks. These findings indicate that the different clinical syndromes caused by cortical auditory lesions form a spectrum of related auditory processing disorders. Differences between syndromes may depend on the degree of involvement of a primary cortical processing system, the more diffuse accessory system, and possibly the efferent auditory system. Images

Mendez, M F; Geehan, G R



[Corneal neovascularization: Epidemiological, physiopathological, and clinical features].  


Corneal neovascularization is defined as the presence of vessels within the normally avascular corneal stroma. This physiopathological process is the consequence of local hyper-expression of pro-angiogenic factors in response to tissue damage. These new vessels (neovessels), initially immature and poorly developed, predispose the cornea to lipid exudation, inflammation, and scarring. Additionally, the influx of vascular cells into the stroma induces a loss of the cornea's immune privilege, resulting in a higher rate of graft rejection. In this literature review, we touch on epidemiological, physiopathological, and clinical aspects of corneal neovascularization, as well as secondary complications. PMID:23891320

Benayoun, Y; Casse, G; Forte, R; Dallaudière, B; Adenis, J-P; Robert, P-Y



Functional foods: salient features and clinical applications.  


The term "functional food" refers to foods or ingredients of foods providing an additional physiological benefit beyond their basic nutritional needs. Health benefits are best obtained through a varied diet containing fruits, vegetables, grains, legumes and seeds. However, fortified foods and dietary supplements have been marketed and food industry have made functional food one of their current leading trends. Recently, the number of functional foods that have a potential benefit on health has hugely grown and scientific evidence is supporting the role of functional foods in prevention and treatment of several diseases. Cancer, diabetes, heart disease and hypertension are the most important diseases that can be treated or prevented by functional foods; other diseases are osteoporosis, abnormal bowel motility, and arthritis. It has been estimated that 80% of cancer in USA have a nutrition/diet component suggesting a great impact of functional food and foods components on incidence and treatment of cancer. Numerous factors complicate the evaluation of scientific evidence such as the complexity of food substance, effect on food, metabolic changes associated to dietary changes, the lack of biological markers of disease development. This paper reviews the scientific evidence supporting this area regarding only those foods and ingredients in which a clear experimental and clinical evidence exists for their chemopreventive and therapeutic effects. PMID:16178793

Riezzo, Giuseppe; Chiloiro, Marisa; Russo, Francesco



LEOPARD Syndrome: Clinical Features and Gene Mutations  

PubMed Central

The RAS/MAPK pathway proteins with germline mutations in their respective genes are associated with some disorders such as Noonan, LEOPARD (LS), neurofibromatosis type 1, Costello and cardio-facio-cutaneous syndromes. LEOPARD is an acronym, mnemonic for the major manifestations of this disorder, characterized by multiple lentigines, electrocardiographic abnormalities, ocular hypertelorism, pulmonic stenosis, abnormal genitalia, retardation of growth, and sensorineural deafness. Though it is not included in the acronym, hypertrophic cardiomyopathy is the most frequent cardiac anomaly observed, representing a potentially life-threatening problem in these patients. PTPN11, RAF1 and BRAF are the genes known to be associated with LS, identifying molecular genetic testing of the 3 gene mutations in about 95% of affected individuals. PTPN11 mutations are the most frequently found. Eleven different missense PTPN11 mutations (Tyr279Cys/Ser, Ala461Thr, Gly464Ala, Thr468Met/Pro, Arg498Trp/Leu, Gln506Pro, and Gln510Glu/Pro) have been reported so far in LS, 2 of which (Tyr279Cys and Thr468Met) occur in about 65% of the cases. Here, we provide an overview of clinical aspects of this disorder, the molecular mechanisms underlying pathogenesis and major genotype-phenotype correlations.

Martinez-Quintana, E.; Rodriguez-Gonzalez, F.



LEOPARD Syndrome: Clinical Features and Gene Mutations.  


The RAS/MAPK pathway proteins with germline mutations in their respective genes are associated with some disorders such as Noonan, LEOPARD (LS), neurofibromatosis type 1, Costello and cardio-facio-cutaneous syndromes. LEOPARD is an acronym, mnemonic for the major manifestations of this disorder, characterized by multiple lentigines, electrocardiographic abnormalities, ocular hypertelorism, pulmonic stenosis, abnormal genitalia, retardation of growth, and sensorineural deafness. Though it is not included in the acronym, hypertrophic cardiomyopathy is the most frequent cardiac anomaly observed, representing a potentially life-threatening problem in these patients. PTPN11, RAF1 and BRAF are the genes known to be associated with LS, identifying molecular genetic testing of the 3 gene mutations in about 95% of affected individuals. PTPN11 mutations are the most frequently found. Eleven different missense PTPN11 mutations (Tyr279Cys/Ser, Ala461Thr, Gly464Ala, Thr468Met/Pro, Arg498Trp/Leu, Gln506Pro, and Gln510Glu/Pro) have been reported so far in LS, 2 of which (Tyr279Cys and Thr468Met) occur in about 65% of the cases. Here, we provide an overview of clinical aspects of this disorder, the molecular mechanisms underlying pathogenesis and major genotype-phenotype correlations. PMID:23239957

Martínez-Quintana, E; Rodríguez-González, F



Clinical features of latent inhibition in schizophrenia.  


Paradigms of Latent Inhibition (LI) are inter-species and derived from learning theories. They are considered as tools which allow the attentional processes to be studied. The absence of LI is interpreted as difficulty in discriminating relevant and irrelevant stimuli. Abolition of LI has been shown in acute schizophrenics. The objectives of our study were partly to validate an LI paradigm, based on a contingency detection between two stimuli, in healthy subjects, and partly to analyse LI in schizophrenics. The study included 105 subjects (65 patients and 40 controls). Patients fulfilled the DSM IV diagnosis of schizophrenia. 35 in the acute phase and 30 in the chronic phase. We observed a loss of LI for acute schizophrenics, and an enhancement of LI for chronic schizophrenics. The variations in LI are interpreted from the perspective of a disturbance in the attentional processes. The LI status in acute schizophrenics appears to correlate with the clinical criteria with a prognostic value (low intensity of the negative dimension, late age at the first hospitalization). Moreover, the enhancement of LI correlates with the negative dimension of schizophrenic disease. This correlation is found in acute and chronic schizophrenics. It suggests that the variations of LI may be an indicator of adaptive strategies to a cognitive dysfunction specific to schizophrenia. PMID:11518635

Rascle, C; Mazas, O; Vaiva, G; Tournant, M; Raybois, O; Goudemand, M; Thomas, P



Hyponatremia in cirrhosis: clinical features and management.  


The presence of dilutional hyponatremia has a poor prognosis for survival in patients with cirrhosis and ascites. Effective and safe treatments are needed to improve prognosis in patients with cirrhosis and dilutional hyponatremia. The initial approach to management includes fluid restriction, low sodium diet, and minimizing the use of diuretics. In addition, the use of hypertonic saline should be avoided in patients with cirrhosis and dilutional hyponatremia. Furthermore, patients should be placed on the top of the list for liver transplantation if they are appropriate candidates. Although V2 arginine vasopressin receptor antagonists that selectively enhance solute-free water excretion in patients with cirrhosis seem very promising, two points must be considered in relation to the available data. First, although the results of phase-2 studies are encouraging, the efficacy and safety of these compounds should be further evaluated. Second, the clinical utility of these agents in cirrhosis has only been assessed in short-term studies. The long-term effects of these drugs remain unknown. Future research with these compounds should not only focus on the effects on serum sodium, but also on treatment and prevention of recurrence of ascites. In addition, the possible beneficial effects of these drugs in the prevention of hepatic encephalopathy would be worth studying. PMID:17075468

Martín-Llahí, Marta; Guevara, Mónica; Ginès, Pere



Uremic encephalopathies: clinical, biochemical, and experimental features.  


Patients with renal failure may manifest a variety of neurologic disorders. Patients with chronic renal failure who have not yet received dialytic therapy may develop a symptom complex progressing from mild sensorial clouding to delirium and coma, with tremor, asterixis, multifocal myoclonus, and seizures. After the institution of adequate maintenance dialysis therapy, patients may continue to be afflicted with more subtle nervous dysfunction, including impaired mentation, generalized weakness, and peripheral neuropathy. These central nervous system disorders are referred to as uremic encephalopathy. The dialytic treatment of end-stage renal disease has itself been associated with the emergence of two distinct, new disorders of the central nervous system; dialysis dysequilibrium and dialysis dementia. The dialysis disequilibrium syndrome consists of headache, nausea, muscle cramps, obtundation, and seizures, and is a consequence of the initiation of dialysis therapy in some patients. Dialysis dementia is a progressive, generally fatal encephalopathy which affects patients on chronic hemodialysis. There are at least three different forms of dialysis encephalopathy: sporadic, epidemic; and that associated with renal disease in children. In addition to the foregoing neurologic diseases which are specifically related to uremia and/or dialysis, a number of other neurologic disorders occur with increased frequency in patients with end-stage renal disease on chronic hemodialysis. These include subdural hematoma, electrolyte disorders, vitamin deficiencies, drug intoxication, hypertensive encephalopathy, and acute trace element intoxication. Renal transplantation is associated with a variety of central nervous system infections, reticulum cell sarcoma, and central pontine myelinosis. The present manuscript will review the clinical, structural, and biochemical components of those neurologic disorders which are peculiar to the uremic state and its treatment with dialysis. PMID:6756130

Mahoney, C A; Arieff, A I



Queensland tick typhus: three cases with unusual clinical features.  


Queensland tick typhus (QTT), caused by Rickettsia australis, is usually a relatively mild illness but can occasionally be severe. We describe three cases of probable QTT with unusual clinical features, namely splenic infarction, fulminant myopericarditis and severe leukocytoclastic vasculitis. QTT may present with uncommon clinical features in addition to the more common manifestations. A high index of suspicion enables specific antibiotic therapy that may hasten recovery. PMID:23841762

Wilson, P A; Tierney, L; Lai, K; Graves, S



Clinical and radiological features of juvenile onset olivopontocerebellar atrophy  

Microsoft Academic Search

Olivopontocerebellar atrophy (OPCA) is uncommon in childhood. We encountered 17 consecutive patients with clinical and radiological features of OPCA with a juvenile onset (mean onset age 8.2 years). These patients were heterogenous on clinical and genetic profiles, but formed three major groups. The largest group consisted of eight patients with OPCA and pigmentary retinal degeneration. The other major groups seen

R. Pratap Chand; J. K. J. Tharakan; R. L. Koul; S. Dilip Kumar



Adrenal histoplasmosis: clinical presentation and imaging features in nine cases  

Microsoft Academic Search

Background: We describe a retrospective analysis of the clinical presentation and imaging features in nine patients with adrenal histoplasmosis in nonimmunocompromised patients from a nonendemic region. Methods: Clinically, a tuberculosis-like presentation in four patients and a tumor-like presentation in five patients were seen. All patients were seronegative for the human immunodeficiency virus. Ultrasound (US) in all patients, computed tomography (CT)

N. Kumar; S. Singh; S. Govil



Orbital cysts of childhood—classification, clinical features, and management  

Microsoft Academic Search

There is little in the literature about the clinical spectrum of orbital cysts of childhood and no comprehensive classification has been proposed. The authors propose a classification of orbital cysts of childhood and review their clinical features, pathology, and management. The major categories in the classification include cysts of surface epithelium, teratomatous cysts, neural cysts, secondary cysts, inflammatory cysts, and

Jerry A Shields; Carol L Shields



Stratigraphic architectures spotted in southern Melas Chasma, Valles Marineris, Mars  

NASA Astrophysics Data System (ADS)

The distribution in space and time of liquid water on Mars is relevant to astrobiology and astroclimatology. To date, most orbital observations that attest to past fluvial and lacustrine activity on Mars have been dedicated to surficial landforms (i.e., drainage networks and depositional fans). Here we report an unprecedented identification of typical stratigraphic architectures made in Mars Global Surveyor Mars Orbiter Camera images of layered material in southern Melas Chasma. A particular set of strata is arranged in three depositional sequences bounded by stratigraphic unconformities. The sequences show spectacular steeply inclined clinoforms, and a broad channel-like depression. There are the same complex stratal patterns in Valles Marineris on Mars as there are in terrestrial deposits. Insights into these three-dimensional deposit geometries are used to tentatively isolate specific depositional processes and point to ancient subaqueous settings. Findings in southern Melas indicate a very attractive spot to which the search for ancient habitable environments on Mars could be directed.

Dromart, Gilles; Quantin, Cathy; Broucke, Olivier



Slope Measurements of Terraces in Melas Chasma as an Example for 3D Basin Analysis from Remote Sensing Data of Layered Deposits on Mars  

NASA Astrophysics Data System (ADS)

An interesting problem for planetary scientists interpreting depositional and erosional histories of features evident in many satellite photos of Mars, such as scarps, terraces, plateaus and layering, is the correlation of linear and planar features between images to construct a regional or basin-wide three-dimensional visual model. As high resolution (~10m/pixel) topographic digital elevation models becomes available, the measurement of linear and planar slopes may be accomplished with ordinary GIS software. The software used to make measurements of the strike/dip of selected features was the GIS package ArcView 3.1 with the 3D Geology extension provided by the Geological Survey of Canada. Additional work used GoCAD to construct three-dimensional visual models of the measured structures. The Geological Survey of Canada has produced an extension for GoCAD called SPARSE that allows the construction of three-dimensional visual models of the measured planar and linear features. This package would be useful in constructing models of basins from satellite imagery and topography data. The Melas Chasma region of the Valles Marineris on Mars is used as an example since it is one of the few regions for which 10-meter digital elevation models are publicly available. Plateaus in Melas Chasma are examined using techniques described in this poster presentation to reconstruct local stratigraphic relationships. An interpretation of features observable in images of Melas Chasma is offered.

Persaud, R.; de Kemp, E.



Severe acute respiratory syndrome (SARS): epidemiology and clinical features  

PubMed Central

Severe acute respiratory syndrome (SARS) is a newly emerged infectious disease with a significant morbidity and mortality. The major clinical features include persistent fever, chills/rigor, myalgia, malaise, dry cough, headache, and dyspnoea. Older subjects may present without the typical febrile response. Common laboratory features include lymphopenia, thrombocytopenia, raised alanine transaminases, lactate dehydrogenase, and creatine kinase. The constellation of compatible clinical and laboratory findings, together with certain characteristic radiological features and lack of clinical response to broad spectrum antibiotics, should arouse suspicion of SARS. Measurement of serum RNA by real time reverse transcriptase-polymerase chain reaction technique has a detection rate of 75%–80% in the first week of the illness.

Hui, D; Chan, M; Wu, A; Ng, P



Oral candidosis. Clinical, historical, and therapeutic features of 100 cases.  


Oral candidosis is an increasingly important disease that affects a significant percentage of the population. Traditionally known as an opportunistic pathogen, the broader clinical scope of oropharyngeal candidal infections is now being recognized. The clinical and historical features of 100 patients referred for diagnosis and management of candidosis have been reviewed. The age, gender, chief complaint, medical history, medications, and clinical findings have been noted. A wide range of clinical signs and symptoms, and the rationale behind the topical and systemic antifungal therapies provided to this patient population, are discussed. PMID:1508508

Fotos, P G; Vincent, S D; Hellstein, J W



Fatal familial insomnia: Clinical features and early identification.  


Our aim was to develop a detailed clinical description of fatal familial insomnia in a large patient group with respect to the M129V genotype. Data on 41 German fatal familial insomnia patients were analyzed. Clinical features, 14-3-3 proteins in the cerebrospinal fluid, magnetic resonance imaging, positron emission tomography, single-photon emission computed tomography, polysomnography, and electroencephalography were studied. Age at disease onset, disease duration, and clinical syndrome varied depending on the codon 129 genotype. Because the sensitivity of the most diagnostic tests is low in fatal familial insomnia, detailed clinical investigation is extremely important. Polysomnography may help to support the diagnosis. PMID:18360821

Krasnianski, Anna; Bartl, Mario; Sanchez Juan, Pascual J; Heinemann, Uta; Meissner, Bettina; Varges, Daniela; Schulze-Sturm, Ulf; Kretzschmar, Haus A; Schulz-Schaeffer, Walter J; Zerr, Inga



Clinical and Radiological Features of Brainstem Variant of Hypertensive Encephalopathy  

PubMed Central

Background: The “posterior reversible leukoencephalopathy” syndrome, generally observed in the setting of severe, acute hypertension, often correlates with radiological abnormalities that involve the occipital lobes and other hemispheric areas. A predominant involvement of the brainstem in this syndrome is rare. Patients: We report three patients with previously known or newly diagnosed severe hypertension, who presented with a combination of headache and visual disturbances, along with diffuse abnormalities demonstrated on magnetic resonance imaging in the brainstem and cerebellum. The absence of clinical features of brainstem or cerebellar dysfunction contrasted with the severity of the radiological abnormalities. Conclusions: We discuss the pathophysiological, clinical, and radiographic features of this variant of posterior reversible leukoencephalopathy.

Karakis, Ioannis; MacDonald, James A.; Stefanidou, Maria; Kase, Carlos S.



Ontology-Guided Feature Engineering for Clinical Text Classification  

PubMed Central

In this study we present novel feature engineering techniques that leverage the biomedical domain knowledge encoded in the Unified Medical Language System (UMLS) to improve machine-learning based clinical text classification. Critical steps in clinical text classification include identification of features and passages relevant to the classification task, and representation of clinical text to enable discrimination between documents of different classes. We developed novel information-theoretic techniques that utilize the taxonomical structure of the Unified Medical Language System (UMLS) to improve feature ranking, and we developed a semantic similarity measure that projects clinical text into a feature space that improves classification. We evaluated these methods on the 2008 Integrating Informatics with Biology and the Bedside (I2B2) obesity challenge. The methods we developed improve upon the results of this challenge’s top machine-learning based system, and may improve the performance of other machine-learning based clinical text classification systems. We have released all tools developed as part of this study as open source, available at

Garla, Vijay N.; Brandt, Cynthia



Clinical features and visual outcomes of Japanese patients with scleritis  

Microsoft Academic Search

PurposeTo analyse clinical features, systemic associations, treatment and visual outcomes in Japanese patients with scleritis.MethodsClinical records of 83 patients with scleritis who presented between 1998 and 2008 to the Ocular Inflammation Service of the Kyorin Eye Center, Tokyo, were reviewed.ResultsOf the 83 patients, 57 (69%) had diffuse anterior scleritis, 9 (11%) had nodular anterior scleritis, 8 (10%) had necrotising anterior

H. Keino; T. Watanabe; W. Taki; C. Nakashima; A. A. Okada



Lymphoid interstitial pneumonia: clinical features, associations and prognosis  

Microsoft Academic Search

Lymphoid interstitial pneumonia (LIP) is rare and its clinical course incompletely described. The aim of this study was to examine the clinical features, associations and prognosis of surgical lung biopsy-proven LIP. The study group consisted of 15 subjects encountered over a 14-yr period. The majority of subjects were females (n511) and the mean age was 47 yrs (range 17-78 yrs).

S. I. Cha; M. B. Fessler; C. D. Cool; M. I. Schwarz; K. K. Brown



Microsoft Academic Search

Introduction: Identifying clinical features that differentiate acute febrile thrombocytopaenia from acute febrile illness without thrombocytopaenia can help primary care physician to decide whether to order a full blood count (FBC). This is important because thrombocytopaenia in viral fever may signify more serious underlying aetiology like dengue infection. Objective: The aim of this study was to compare the clinical features of

Tong Seng Fah; Noorazah Abdul Aziz; Chin Gek Liew; Khairani Omar


Repetitive Behaviors in Autism: Relationships with Associated Clinical Features  

ERIC Educational Resources Information Center

Relationships between repetitive behaviors (RBs) and associated clinical features (i.e., cognitive and adaptive functioning levels, sleep problems, medication use, and other behavioral problems) were examined in two groups (High nonverbal IQ greater than or equal to 97 versus Low nonverbal IQ less than or equal to 56) of children with autism…

Gabriels, Robin L.; Cuccaro, Michael L.; Hill, Dina E.; Ivers, Bonnie J.; Goldson, Edward



Clinical features of 53 cases with pustulotic arthro-osteitis  

Microsoft Academic Search

We have described clinical features of 53 cases with pustulotic arthro-osteitis. Anterior chest wall symptoms such as intersterno-costoclavicular or manubriosternal lesions were observed in all of 53 cases. Spondylitis or spondylodiscitis was found in 18 cases. Sacroiliitis resembling ankylosing spondylitis was seen in 7 cases. Peripheral inflammatory arthritis was seen in 14 cases, which were of nonerosive, of oligoarthritis type,

H Sonozaki; H Mitsui; Y Miyanaga; K Okitsu; M Igarashi; Y Hayashi; M Matsuura; A Azuma; K Okai; M Kawashima



Clinical Features of Retinal Detachment in the Elderly  

Microsoft Academic Search

We conducted a retrospective study of 636 eyes (624 patients, aged 65 years or more) to identify the clinical features of nontraumatic retinal detachment in the elderly. The incidence of retinal detachment due to a macular hole in our series (21%) was much higher than those described in previous reports, suggesting a racial difference between Japanese and Caucasian patients. Tractional

Hidenobu Tanihara; Satoshi Okinami; Hachioki Minami; Tomoko Ohnishi-Nio; Naoko Tachi-Ogawa; Nobuchika Ogino



Clinical features of developmental disability associated with cerebellar hypoplasia  

Microsoft Academic Search

Sporadic nonsyndromic cerebellar hypoplasia is a radiological diagnosis with clinical features and a relation with developmental disability that are presently not known. Through a retrospective review of a comprehensive standardized computerized database containing more than 2,500 patients examined consecutively by a pediatric neurologist, 11 with nonfamilial, nonsyndromic cerebellar hypoplasia on neuroimaging (CT and\\/or MRI) were identified. With the exception of

Michael I. Shevell; Annette Majnemer



The clinical features of late onset anorexia nervosa  

Microsoft Academic Search

This study examines clinical features of late onset anorexia nervosa. This involved the scrutiny of a large database of patients with anorexia nervosa comprising data gathered at standardized initial assessments over the period 1960-1990. Patients with a late onset were compared to other selected patient samples. The population comprised 12 patients with a first onset of anorexia nervosa at or

N. A. Joughin; A. H. Crisp; S. G. Gowers; A. V. Bhat



Update on Clinical Features and Brain Abnormalities in Neurogenetics Syndromes  

ERIC Educational Resources Information Center

|Neuroimaging methods represent a critical tool in efforts to join the study of the neurobiology of genes with the neurobiology of behaviour, and to understand the neurodevelopmental pathways that give rise to cognitive and behavioural impairments. This article reviews the clinical features and highlights studies with a focus on the relevant…

Jackowski, Andrea Parolin; Laureano, Maura Regina; Del'Aquilla, Marco Antonio; de Moura, Luciana Monteiro; Assuncao, Idaiane; Silva, Ivaldo; Schwartzman, Jose Salomao



Clinical Features and Revised Diagnostic Criteria in Joubert Syndrome  

Microsoft Academic Search

The clinical presentation of children with Joubert syndrome can include nonspecific features such as hypotonia, ataxia, and developmental delay. Careful examination of the face shows a characteristic appearance, and a neuro-ophthalmologic examination shows the presence of oculomotor apraxia. In the neonatal period, most children have hyperpnea intermixed with central apnea. Neuroimaging of the head in the axial plane demonstrates the

Bernard L. Maria; Eugen Boltshauser; Scott C. Palmer; Thang X. Tran



Clinical features and prognostic factors in adults with bacterial meningitis  

Microsoft Academic Search

background We conducted a nationwide study in the Netherlands to determine clinical features and prognostic factors in adults with community-acquired acute bacterial meningitis. methods From October 1998 to April 2002, all Dutch patients with community-acquired acute bacterial meningitis, confirmed by cerebrospinal fluid cultures, were prospectively eval- uated. All patients underwent a neurologic examination on admission and at discharge, and outcomes

Diederik van de Beek; Jan de Gans; Lodewijk Spanjaard; Martijn Weisfelt; Johannes B. Reitsma; Marinus Vermeulen



Clinical features of 46 eyes with calcified hydrogel intraocular lenses  

Microsoft Academic Search

Purpose: To clarify the clinical features of delayed calcification of hydrogel intraocular lenses (IOLs) based on observation of a large case series.Setting: Ophthalmology department of 2 university teaching hospitals, Hong Kong, China.Methods: The first 44 patients with a known diagnosis of calcified IOL were recruited. Medical and ophthalmic histories were obtained. Surgical details, surgical complications, and visual acuity before and

Alexis Ka Fai Yu; Kenneth Yan Wing Kwan; David Ho Yin Chan; Daniel Yee Tak Fong



Cardiovascular complications in sickle cell disease: Clinical and echocardiographic features  

Microsoft Academic Search

Sickle cell disease (SCD) is an autossomal recessive disorder and one of the most common genetic disorder in our miscegenated brazilian population. The cardiovascular and pulmonary complications remain the prime cause of morbidity and mortality in SCD. The aim of the study was to report the clinical and echocardiographics features in a population with documented SCD,recruited from the Rio de

João Carlos Tress; Monica A. Oliveira; Lílian S. Costa; Cantidio Drumond Neto; Katia Motta



Childhood and juvenile onset multiple sclerosis: clinical and paraclinical features  

Microsoft Academic Search

It is well known that multiple sclerosis (MS) is a demyelinating disease of the central nervous system that mostly starts in the second to third decade. In the present study, we reviewed our own observations of the clinical and paraclinical features in the 36 of 890 (4.04%) MS patients whose symptoms started before 16 years of age. The average age

Serkan Ozakbas; Egemen Idiman; Baris Baklan; Burak Yulug



Bacteraemic melioidosis pneumonia: impact on outcome, clinical and radiological features  

Microsoft Academic Search

Objectives. Melioidosis is an endemic disease in South-east (SE) Asia and bacteraemia in melioidosis is associated with high mortality. We describe some clinical and radiological features of bacteraemic pneumonia due to Burkholderia pseudomallei as well as a comparison with bacteraemic patients without pneumonia.Methods. Patients with positive blood cultures for B. pseudomallei from October 1997 to November 2001 were included. Patients

Amartya Mukhopadhyay; Kang Hoe Lee; Paul Ananth Tambyah



Clinical features of idiopathic megarectum and idiopathic megacolon  

Microsoft Academic Search

BACKGROUND: Dilatation of the rectum and\\/or colon, in the absence of demonstrable organic disease, is an uncommon and poorly characterised condition. AIMS: To characterise the clinical and diagnostic features, and response to treatment, of patients with idiopathic megarectum (IMR) and idiopathic megacolon (IMC). METHODS: A retrospective review was undertaken of all patients operated on for these conditions over a 23

J M Gattuso; M A Kamm



Clinical features on nerve gas terrorism in Matsumoto.  


Clinical features on the first unexpected nerve gas terrorism using sarin (isopropyl methylphosphonofluoridate) on citizens in the city of Matsumoto is described. The nerve gas terrorism occurred at midnight on 27 June, 1994. About 600 people including residents and rescue staff were exposed to sarin gas. Fifty-eight victims were admitted to hospitals and seven died. Theoretically, sarin inhibits systemic acetylcholinesterase and damages all the autonomic transmission at the muscarinic and nicotinic acetylcholine receptor. Miosis was the most common finding in the affected people. In cases with severe poisoning, organophosphate may affect the central nervous system and cause cardiomyopathy. A few of the victims complained of arrhythmia and showed a decreased cardiac contraction. Abnormal electroencephalograms were recorded in two patients. The clinical features and follow-up studies are discussed with reference to the Tokyo subway terrorism and related articles. PMID:11749011

Okudera, Hiroshi



Clinical features of body dysmorphic disorder in adolescents and adults  

Microsoft Academic Search

Body dysmorphic disorder (BDD) usually begins during adolescence, but its clinical features have received little investigation in this age group. Two hundred individuals with BDD (36 adolescents; 164 adults) completed interviewer-administered and self-report measures. Adolescents were preoccupied with numerous aspects of their appearance, most often their skin, hair, and stomach. Among the adolescents, 94.3% reported moderate, severe, or extreme distress

Katharine A. Phillips; Elizabeth R. Didie; William Menard; Maria E. Pagano; Christina Fay; Risa B. Weisberg



Clinical, Epidemiologic, Histopathologic and Molecular Features of an Unexplained Dermopathy  

Microsoft Academic Search

BackgroundMorgellons is a poorly characterized constellation of symptoms, with the primary manifestations involving the skin. We conducted an investigation of this unexplained dermopathy to characterize the clinical and epidemiologic features and explore potential etiologies.MethodsA descriptive study was conducted among persons at least 13 years of age and enrolled in Kaiser Permanente Northern California (KPNC) during 2006–2008. A case was defined

Michele L. Pearson; Joseph V. Selby; Kenneth A. Katz; Virginia Cantrell; Christopher R. Braden; Monica E. Parise; Christopher D. Paddock; Michael R. Lewin-Smith; Victor F. Kalasinsky; Felicia C. Goldstein; Allen W. Hightower; Arthur Papier; Brian Lewis; Sarita Motipara; Mark L. Eberhard



The clinical features of the piriformis syndrome: a systematic review  

Microsoft Academic Search

Piriformis syndrome, sciatica caused by compression of the sciatic nerve by the piriformis muscle, has been described for\\u000a over 70 years; yet, it remains controversial. The literature consists mainly of case series and narrative reviews. The objectives\\u000a of the study were: first, to make the best use of existing evidence to estimate the frequencies of clinical features in patients\\u000a reported to

Kevork Hopayian; Fujian Song; Ricardo Riera; Sidha Sambandan



Klippel-Trénaunay Syndrome: Clinical features, complications, and management  

Microsoft Academic Search

Klippel-Trnaunay Syndrome (KTS) is rare and not well recognized among most physicians, which has lead to inappropriate management\\u000a and delayed referral in many cases. Presented herein is the largest series ever reported from a single center in Saudi Arabia,\\u000a comprised of 18 patients seen between 1990 and 1996, whose clinical features, complications, and management are discussed.\\u000a All 18 patients had

Mussaad M. S. Al-Salman



Clinical features and respiratory complications in Myhre syndrome  

Microsoft Academic Search

We describe the clinical characteristics of 4 singleton cases, 3 males and 1 female, with Myhre Syndrome (OMIM 139210), who were born to non-consanguineous parents. Three cases had no family history of similarly affected individuals but 1 male’s mother had short stature, some facial features suggestive of Myhre syndrome and evidence of skewed X-chromosome inactivation in her blood DNA. Short

Ruth McGowan; Ramkumar Gulati; Pamela McHenry; Alexander Cooke; Sandra Butler; Wee Teik Keng; Victoria Murday; Margo Whiteford; Frederik G. Dikkers; Brigit Sikkema-Raddatz; Ton van Essen; John Tolmie



Disease-causing mitochondrial heteroplasmy segregated within induced pluripotent stem cell clones derived from a patient with MELAS.  


Mitochondrial diseases display pathological phenotypes according to the mixture of mutant versus wild-type mitochondrial DNA (mtDNA), known as heteroplasmy. We herein examined the impact of nuclear reprogramming and clonal isolation of induced pluripotent stem cells (iPSC) on mitochondrial heteroplasmy. Patient-derived dermal fibroblasts with a prototypical mitochondrial deficiency diagnosed as mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS) demonstrated mitochondrial dysfunction with reduced oxidative reserve due to heteroplasmy at position G13513A in the ND5 subunit of complex I. Bioengineered iPSC clones acquired pluripotency with multilineage differentiation capacity and demonstrated reduction in mitochondrial density and oxygen consumption distinguishing them from the somatic source. Consistent with the cellular mosaicism of the original patient-derived fibroblasts, the MELAS-iPSC clones contained a similar range of mtDNA heteroplasmy of the disease-causing mutation with identical profiles in the remaining mtDNA. High-heteroplasmy iPSC clones were used to demonstrate that extended stem cell passaging was sufficient to purge mutant mtDNA, resulting in isogenic iPSC subclones with various degrees of disease-causing genotypes. On comparative differentiation of iPSC clones, improved cardiogenic yield was associated with iPSC clones containing lower heteroplasmy compared with isogenic clones with high heteroplasmy. Thus, mtDNA heteroplasmic segregation within patient-derived stem cell lines enables direct comparison of genotype/phenotype relationships in progenitor cells and lineage-restricted progeny, and indicates that cell fate decisions are regulated as a function of mtDNA mutation load. The novel nuclear reprogramming-based model system introduces a disease-in-a-dish tool to examine the impact of mutant genotypes for MELAS patients in bioengineered tissues and a cellular probe for molecular features of individual mitochondrial diseases. PMID:23553816

Folmes, Clifford D L; Martinez-Fernandez, Almudena; Perales-Clemente, Ester; Li, Xing; McDonald, Amber; Oglesbee, Devin; Hrstka, Sybil C; Perez-Terzic, Carmen; Terzic, Andre; Nelson, Timothy J



Idiopathic orbital inflammatory syndrome: Clinical features and treatment outcomes  

PubMed Central

Aim To characterise the clinical and pathological features of 24 patients with biopsy proven Idiopathic Orbital Inflammatory Syndrome (IOIS). Methods Retrospective case series. Results The study included 14 men and 10 female patients, ranging in age from 14 to 75 years. The presenting symptoms and signs included pain (14/24), swelling/mass (19/24), diplopia (9/24), proptosis (15/24), extraocular muscle restriction (13/24), decreased vision (5/24) and ptosis (4/24). Histopathology was varied and included classical orbital pseudotumour (9/24), sclerosing orbital pseudotumour (13/24), vasculitic orbital pseudotumour (1/24) and granulomatous orbital pseudotumour (1/24). Treatments included oral steroids (19/24), intravenous steroids (1/24), methotrexate, azathioprine, mycophenalate and ciclosporin. Forty?two per cent of the patients had recurring episodes during the follow?up period, with 29% of patients requiring two or more treatment regimens to maintain remission. Two?thirds of patients (16/24) had complete resolution of their symptoms and signs. There was no correlation between the histopathological subtype, relapse rate or symptoms and resolution of signs. Conclusion Idiopathic Orbital Inflammatory Syndrome has variable clinical and pathological features. Although, in some patients, symptoms and signs resolve spontaneously, most require treatment with oral steroids and additional immunosuppressant drugs or radiotherapy. The clinical and pathological features do not correlate with treatment outcomes.

Swamy, B N; McCluskey, P; Nemet, A; Crouch, R; Martin, P; Benger, R; Ghabriel, R; Wakefield, D



Clinical features of avian vacuolar myelinopathy in American coots  

USGS Publications Warehouse

Objectivea??To characterize clinical features of avian vacuolar myelinopathy (AVM) in American coots. Designa??Case-control study. Animalsa??26 AVM-affected American coots and 12 unaffected coots. Proceduresa??Complete physical, neurologic, hematologic, and plasma biochemical evaluations were performed. Affected coots received supportive care. All coots died or were euthanatized, and AVM status was confirmed via histopathologic findings. Resultsa??3 severely affected coots were euthanatized immediately after examination. Seventeen affected coots were found dead within 7 days of admission, but 5 affected coots survived > 21 days and had signs of clinical recovery. Abnormal physical examination findings appeared to be related to general debilitation. Ataxia (88%), decreased withdrawal reflexes (88%), proprioceptive deficits (81%), decreased vent responses (69%), beak or tongue weakness (42%), and head tremors (31%), as well as absent pupillary light responses (46%), anisocoria (15%), apparent blindness (4%), nystagmus (4%), and strabismus (4%) were detected. Few gross abnormalities were detected at necropsy, but histologically, all AVM-affected coots had severe vacuolation of white matter of the brain. None of the control coots had vacuolation. Conclusions and Clinical Relevancea??Although there was considerable variability in form and severity of clinical neurologic abnormalities, clinical signs common in AVM-affected birds were identified. Clinical recovery of some AVM-affected coots can occur when supportive care is administered. Until the etiology is identified, caution should be exercised when rehabilitating and releasing coots thought to be affected by AVM.

Larsen, R. S.; Nutter, F. B.; Augspurger, T.; Rocke, T. E.; Tomlinson, L.; Thomas, N. J.; Stoskopf, M.K.



Clinical features of Friedreich's ataxia: classical and atypical phenotypes.  


One hundred and fifty years since Nikolaus Friedreich's first description of the degenerative ataxic syndrome which bears his name, his description remains at the core of the classical clinical phenotype of gait and limb ataxia, poor balance and coordination, leg weakness, sensory loss, areflexia, impaired walking, dysarthria, dysphagia, eye movement abnormalities, scoliosis, foot deformities, cardiomyopathy and diabetes. Onset is typically around puberty with slow progression and shortened life-span often related to cardiac complications. Inheritance is autosomal recessive with the vast majority of cases showing an unstable intronic GAA expansion in both alleles of the frataxin gene on chromosome 9q13. A small number of cases are caused by a compound heterozygous expansion with a point mutation or deletion. Understanding of the underlying molecular biology has enabled identification of atypical phenotypes with late onset, or atypical features such as retained reflexes. Late-onset cases tend to have slower progression and are associated with smaller GAA expansions. Early-onset cases tend to have more rapid progression and a higher frequency of non-neurological features such as diabetes, cardiomyopathy, scoliosis and pes cavus. Compound heterozygotes, including those with large deletions, often have atypical features. In this paper, we review the classical and atypical clinical phenotypes of Friedreich's ataxia. PMID:23859346

Parkinson, Michael H; Boesch, Sylvia; Nachbauer, Wolfgang; Mariotti, Caterina; Giunti, Paola



Conjunctival nevi: clinical and histopathologic features in a Saudi population  

PubMed Central

BACKGROUND AND OBJECTIVE: Conjunctival nevi are benign lesions with wide variation in clinical and histopathological features. The differentiation between benign nevi and other pigmented lesions is essential. The aim of our study was to identify the distribution of the histopathologic types of conjunctival nevi among the Saudi population and to provide the basic knowledge needed for proper clinical diagnosis. PATIENTS AND METHODS: This retrospective study of surgically excised benign conjunctival nevi was conducted at a tertiary care eye hospital from 1995 to 2006. Clinical data was collected from medical records and the histopathologic features reviewed by a single pathologist. RESULTS: A total 105 conjunctival nevi were included from 104 consecutive patients (mean age, 26 years, 54 males and 50 females). The anatomical location was the bulbar conjunctiva in 83%, juxtalimbal in 12%, caruncle in 4% and palpebral in 1%. The lesion was removed for cosmetic reasons in 38% while 8% of the lesions were removed to rule out malignancy. The compound nevus was the commonest (72%) in all age groups, followed by subepithelial nevus (24%) and finally junctional nevus (3%). CONCLUSIONS: The distribution of the histopathologic types of this tumor in our population matches the pattern in other areas of the world with the compound nevus being the commonest lesion. However, fewer lesions among our patients are removed to rule out malignancy.

Alkatan, Hind M.; Al-Arfaj, Khalid M.; Maktabi, Azza



Clinical and epidemiological features of Lyme borreliosis in Bulgaria  

Microsoft Academic Search

Summary\\u000a Introduction  Data on disease expression and epidemiological characteristics of Lyme borreliosis in south-eastern Europe are scarce.\\u000a \\u000a \\u000a \\u000a Patients  To reveal features of Lyme borreliosis in Bulgaria, clinical data and epidemiological characteristics of 1257 patients reported\\u000a between 1999 and 2002 were analysed.\\u000a \\u000a \\u000a \\u000a Results  The most affected age group was 5–9 years, followed by 45–49 years, 50–54 years, and 10–14 years. Most of the patients

Iva Christova; Radka Komitova



Clinical and Pathologic Features of Secondary Acute Promyelocytic Leukemia  

PubMed Central

Acute promyelocytic leukemia (APL) is a relatively common form of acute myeloid leukemia (AML) that has an excellent prognosis. In contrast, secondary acute myeloid leukemias, including therapy-related AML and AML with myelodysplasia-related changes, have a relatively poor prognosis. We identified 9 cases of APL at our institution in which there was a history of chemotherapy, radiotherapy, chronic immunosuppression, or antecedent myelodysplastic syndrome. The clinical and pathologic findings in these cases of secondary APL were compared with the clinical and pathologic findings in cases of de novo APL. We found that secondary and de novo APL had abnormal promyelocytes with similar morphologic and immunophenotypic features, comparable cytogenetic findings, comparable rates of FMS-like tyrosine kinase mutations, and similar rates of recurrent disease and death. These data suggest that secondary APL is similar to de novo APL and, thus, should be considered distinct from other secondary acute myeloid neoplasms.

Duffield, Amy S.; Aoki, Joseph; Levis, Mark; Cowan, Kathleen; Gocke, Christopher D.; Burns, Kathleen H.; Borowitz, Michael J.; Vuica-Ross, Milena



Clinical Features of Infections and Colonization by Acinetobacter Genospecies 3 ?  

PubMed Central

Two hundred twenty-one isolates of Acinetobacter baumannii and 15 of Acinetobacter genospecies 3 (AG3) were consecutively collected in a 30-day period during the nationwide project GEIH-Ab2000. Nosocomial acquisition (P = 0.01), intensive care unit admission (P = 0.02), and antibiotic pressure (P = 0.03) were observed to be lower in the AG3 group. AG3 isolates were more frequently implied in wound infections (P = 0.05), while A. baumannii tended to be recovered from respiratory samples (P = 0.08). To our knowledge, this is the first report analyzing the clinical differences among Acinetobacter genospecies, with our findings suggesting that clinical features of AG3 may not be equivalent to those traditionally described for A. baumannii.

Molina, Jose; Cisneros, Jose Miguel; Fernandez-Cuenca, Felipe; Rodriguez-Bano, Jesus; Ribera, Anna; Beceiro, Alejandro; Martinez-Martinez, Luis; Pascual, Alvaro; Bou, German; Vila, Jordi; Pachon, Jeronimo



Clinical features of paroxysmal kinesigenic dyskinesia: report of 24 cases.  


Paroxysmal kinesigenic dyskinesia (PKD) is the most common type of paroxysmal dyskinesia and is characterized by involuntary, intermittent movements induced by sudden movements. Here, we describe 24 patients with PKD, whose clinical data were analyzed. The attacks of involuntary movements were all short lasting, and could involve extremities, trunk, neck, or face without alteration of consciousness. The motor function was normal between attacks, and in some cases, attacks could be evoked during examination. Most patients had normal electroencephalogram (EEG) and neuroimaging results, but 2 cases had abnormal EEGs, and another 2 cases had bilateral calcification of basal ganglion on brain computed tomography (CT) scans. Previous history of misdiagnosis was a predominant feature, while treatments based on misdiagnosis sometimes did lead to improvement. Here, we discuss the clinical characteristics, especially the abnormalities of investigations and misdiagnosis, and recent insights into the pathophysiology of PKD. PMID:23067699

Sun, Wei; Li, Jianing; Zhu, Yulan; Yan, Xiaobo; Wang, Weizhi



Clinical features of facioscapulohumeral muscular dystrophy 2(CME)  

PubMed Central

Objective: In some 5% of patients with facioscapulohumeral muscular dystrophy (FSHD), no D4Z4 repeat contraction on chromosome 4q35 is observed. Such patients, termed patients with FSHD2, show loss of DNA methylation and heterochromatin markers at the D4Z4 repeat that are similar to patients with D4Z4 contractions (FSHD1). This commonality suggests that a change in D4Z4 chromatin structure unifies FSHD1 and FSHD2. The aim of our study was to critically evaluate the clinical features in patients with FSHD2 in order to establish whether these patients are phenotypically identical to FSHD1 and to establish the effects of the (epi-) genotype on the phenotype. Methods: This cross-sectional study studied 33 patients with FSHD2 from 27 families, the largest cohort described to date. All patients were clinically assessed using a standardized clinical evaluation form. Genotype analysis was performed by pulsed field gel electrophoresis and PCR; D4Z4 methylation was studied by methylation-sensitive Southern blot analysis. Results: FSHD2 is identical to FSHD1 in its clinical presentation. Notable differences include a higher incidence (67%) of sporadic cases and the absence of gender differences in disease severity in FSHD2. Overall, average disease severity in FSHD2 was similar to that reported in FSHD1 and was not influenced by D4Z4 repeat size. In FSHD2, a small effect of the degree of hypomethylation on disease severity was observed. Conclusions: Clinically, patients with FSHD2 are indistinguishable from patients with FSHD1. The present data suggest that FSHD1 and FSHD2 are the result of the same pathophysiologic process. GLOSSARY CSS = clinical severity score; FSHD = facioscapulohumeral muscular dystrophy; PBL = peripheral blood lymphocyte; SSLP = simple sequence length polymorphism.

de Greef, J.C.; Lemmers, R.J.L.F.; Camano, P.; Day, J.W.; Sacconi, S.; Dunand, M.; van Engelen, B.G.M.; Kiuru-Enari, S.; Padberg, G.W.; Rosa, A.L.; Desnuelle, C.; Spuler, S.; Tarnopolsky, M.; Venance, S.L.; Frants, R.R.; van der Maarel, S.M.; Tawil, R.



Clinical features and respiratory complications in Myhre syndrome.  


We describe the clinical characteristics of 4 singleton cases, 3 males and 1 female, with Myhre Syndrome (OMIM 139210), who were born to non-consanguineous parents. Three cases had no family history of similarly affected individuals but 1 male's mother had short stature, some facial features suggestive of Myhre syndrome and evidence of skewed X-chromosome inactivation in her blood DNA. Short stature, deafness, learning difficulties, skeletal anomalies and facial dysmorphisms were evident in all cases. Arthralgia and stiff joints with limited movement were also present. The facial appearance, thickened skin, a 'muscular' habitus are memorable features. The female patient was least affected: this patient and one affected male displayed streaky skin with areas of patchy thickening, suggestive of genetic mosaicism. One patient developed sleep apnoea, a restrictive ventilatory defect and died following a choking episode. Another affected male developed recurrent, progressive, proximal, tracheal stenosis requiring partial tracheal resection, laser treatment and eventually tracheotomy. Review of Myhre syndrome patients in the literature and syndromes in the differential diagnosis, suggests heterogeneity in Myhre syndrome and clinical overlap with Laryngotracheal stenosis, Arthropathy, Prognathism and Short stature syndrome. PMID:21816239

McGowan, Ruth; Gulati, Ramkumar; McHenry, Pamela; Cooke, Alexander; Butler, Sandra; Keng, Wee Teik; Murday, Victoria; Whiteford, Margo; Dikkers, Frederik G; Sikkema-Raddatz, Brigit; van Essen, Ton; Tolmie, John



The clinical features of the piriformis syndrome: a systematic review.  


Piriformis syndrome, sciatica caused by compression of the sciatic nerve by the piriformis muscle, has been described for over 70 years; yet, it remains controversial. The literature consists mainly of case series and narrative reviews. The objectives of the study were: first, to make the best use of existing evidence to estimate the frequencies of clinical features in patients reported to have PS; second, to identify future research questions. A systematic review was conducted of any study type that reported extractable data relevant to diagnosis. The search included all studies up to 1 March 2008 in four databases: AMED, CINAHL, Embase and Medline. Screening, data extraction and analysis were all performed independently by two reviewers. A total of 55 studies were included: 51 individual and 3 aggregated data studies, and 1 combined study. The most common features found were: buttock pain, external tenderness over the greater sciatic notch, aggravation of the pain through sitting and augmentation of the pain with manoeuvres that increase piriformis muscle tension. Future research could start with comparing the frequencies of these features in sciatica patients with and without disc herniation or spinal stenosis. PMID:20596735

Hopayian, Kevork; Song, Fujian; Riera, Ricardo; Sambandan, Sidha



Clinical features and associated syndromes of mal de debarquement  

PubMed Central

Objective To investigate the clinical features and natural history of mal de debarquement (MdD). Design Retrospective case review with follow-up questionnaire and telephone interviews. Setting University Neurotology Clinic. Patients Patients seen between 1980 and 2006 who developed a persistent sensation of rocking or swaying for at least 3 days after exposure to passive motion. Main outcome measure Clinical features, diagnostic testing, and questionnaire responses. Results Of 64 patients (75 % women) identified with MdD, 34 completed follow-up questionnaires and interviews in 2006. Most patients had normal neurological exams, ENGs and brain MRIs. The average age of the first MdD episode was 39 ± 13 years. A total of 206 episodes were experienced by 64 patients. Of these, 104 episodes (51 %) lasted > 1 month; 18 %, > 1 year; 15 %, > 2 years; 12 %, > 4 years, and 11 %, > 5 years. Eighteen patients (28 %) subsequently developed spontaneous episodes of MdD-like symptoms after the initial MdD episode. There was a much higher rate of migraine in patients who went on to develop spontaneous episodes (73 %) than in those who did not (22 %). Subsequent episodes were longer than earlier ones in most patients who had multiple episodes. Re-exposure to passive motion temporarily decreased symptoms in most patients (66 %). Subjective intolerance to visual motion increased (10 % to 66 %) but self-motion sensitivity did not (37 % to 50 %) with onset of MdD. Conclusion The majority of MdD episodes lasting longer than 3 days resolve in less than one year but the probability of resolution declines each year. Many patients experience multiple MdD episodes. Some patients develop spontaneous episodes after the initial motion-triggered episode with migraine being a risk factor.

Brodsky, Jae; Ishiyama, Gail; Sabatti, Chiara; Baloh, Robert W.



Clinical and metabolic features of urolithiasis and microlithiasis in children.  


We evaluated the clinical, radiological and metabolic features of 162 children with urolithiasis or microlithiasis who had been referred to our pediatric nephrology clinics between 1998 and 2008 with suspected urolithiasis. The medical histories of these children (78 girls, 84 boys), who ranged in age from 2 months to 16 years (mean age 5.59 +/- 0.35 years), were reviewed retrospectively for clinical and metabolic features of urinary tract calculi. Urinary tract infections (UTI) were present in 45.9% of the cases. The most common presenting symptoms were flank pain or restlessness (25.3%) and hematuria (21.6%), followed by UTI (16%), whereas 23.5% of the cases were detected incidentally during evaluation for other medical conditions. Other symptoms at presentation included dysuria, passing stones, penile edema, enuresis, vomiting and anorexia. Urine analysis revealed metabolic abnormalities in 87% of the cases, including hypercalciuria (33.8%), hypocitraturia (33.1%), hyperoxaluria (26.5%), hyperuricosuria (25.4%), hypocitraturia + hypercalciuria (21.1%), hyperphosphaturia (20.8%) and cystinuria (5.7%). Almost 50% of the patients had a positive family history for urolithiasis. The most frequently involved site was in the kidneys (86%). Ureters and bladder were involved in 12 and 2% of the cases, respectively. A family history of urolithiasis, presenting symptoms and underlying metabolic abnormalities were similar for microlithiasis and the patients with larger stones. However, in our study population, microlithiasis was mainly a disease of young infants, with a greater chance for remission and often not associated with structural changes. The presenting symptoms of urolithiasis show a wide spectrum, so that a high index of suspicion is important for early detection. A metabolic abnormality can be identified in 87% of cases of urolithiasis. Detection of microlithiasis may explain a number of symptoms, thus reducing invasive diagnostic procedures and allowing early recognition of metabolic abnormalities. These results draw attention to the importance of screening for UTIs in patients with urolithiasis. PMID:19603196

Alpay, Harika; Ozen, Ahmet; Gokce, Ibrahim; Biyikli, Nese



Clinical and biologic features of CD4(+)CD56(+) malignancies.  


CD4(+)CD56(+) malignancies are rare hematologic neoplasms, which were recently shown to correspond to the so-called type 2 dendritic cell (DC2) or plasmacytoid dendritic cells. This study presents the biologic and clinical features of a series of 23 such cases, selected on the minimal immunophenotypic criteria defining the DC2 leukemic counterpart, that is, coexpression of CD4 and CD56 in the absence of B, T, and myeloid lineage markers. Clinical presentation typically corresponded to cutaneous nodules associated with lymphadenopathy or spleen enlargement or both. Cytopenia was frequent. Circulating malignant cells were often detected. Massive bone marrow infiltration was seen in 20 of 23 (87%) patients. Most tumor cells exhibited nuclei with a lacy chromatin, a blastic aspect, large cytoplasm-containing vacuoles or microvacuoles beside the plasma membrane, and cytoplasmic expansions resembling pseudopodia. Other immunophenotypic characteristics included both negative (CD16, CD57, CD116, and CD117) and positive (CD36, CD38, CD45 at low levels, CD45RA, CD68, CD123, and HLA DR) markers. The prognosis was rapidly fatal in the absence of chemotherapy. Complete remission was obtained in 18 of 23 (78%) patients after polychemotherapy. Most patients had a relapse in less than 2 years, mainly in the bone marrow, skin, or central nervous system. Considering these clinical and biologic features, the conclusion is made that CD4(+)CD56(+) malignancies constitute a genuine homogeneous entity. Furthermore, some therapeutic options were clearly identified. Finally, relationships between the pure cutaneous indolent form of the disease and acute leukemia as well as with the lymphoid/myeloid origin of the CD4(+)CD56(+) malignant cell are discussed. PMID:11861268

Feuillard, Jean; Jacob, Marie-Christine; Valensi, Françoise; Maynadié, Marc; Gressin, Rémy; Chaperot, Laurence; Arnoulet, Christine; Brignole-Baudouin, Françoise; Drénou, Bernard; Duchayne, Eliane; Falkenrodt, Annie; Garand, Richard; Homolle, Emanuelle; Husson, Bernard; Kuhlein, Emilienne; Le Calvez, Geneviève; Sainty, Danielle; Sotto, Marie-France; Trimoreau, Franck; Béné, Marie-Christine



Endemic paracoccidioidomycosis: relationship between clinical presentation and patients' demographic features.  


Paracoccidioidomycosis (PCM) is a systemic fungal disease endemic to Latin America and characterized by two clinical presentations, i.e., patients develop either acute/subacute or chronic clinical manifestations. The differences in clinical presentations are mainly dependent on the host immune response, but may also be related to demographic characteristics of some patients. In this retrospective study, 1,219 PCM cases treated between 1970 and 2009 in a university medical center, located in southeastern Brazil, were analyzed according to their clinical and demographic features. The most affected anatomical sites were lungs (63.8%) and oral mucosa (50.0%), with increasing involvement of these sites in accord with the age of the patients. Generalized lymphadenopathy (28.1%) and skin lesions (29.6%) were more frequent on the first decades of life. Involvement of the larynx (16.1%), gut (7.5%), spleen (4.7%), central nervous system (3.4%), bones and joints (2.2%), and adrenal (2.1%) were also variable according to the age of the host. The acute/subacute form of the disease accounted for 26.4% of PCM cases and, on a multivariate analysis, was inversely associated with aging (OR = 0.8 per year, P < 0.001), and directly associated with female sex (OR = 7.2, P < 0.001), mixed black and white racial background (OR = 2.3, P < 0.001) or black skin color (OR = 4.6, P < 0.001). Based on these findings, we have shown that host immune response, as well as age, gender and ethnicity may influence the clinical presentation of PCM. PMID:22928923

Bellissimo-Rodrigues, Fernando; Bollela, Valdes Roberto; Da Fonseca, Benedito Antônio Lopes; Martinez, Roberto



The clinical features of the overlap between COPD and asthma  

PubMed Central

Background The coexistence of COPD and asthma is widely recognized but has not been well described. This study characterizes clinical features, spirometry, and chest CT scans of smoking subjects with both COPD and asthma. Methods We performed a cross-sectional study comparing subjects with COPD and asthma to subjects with COPD alone in the COPDGene Study. Results 119 (13%) of 915 subjects with COPD reported a history of physician-diagnosed asthma. These subjects were younger (61.3 vs 64.7 years old, p = 0.0001) with lower lifetime smoking intensity (43.7 vs 55.1 pack years, p = 0.0001). More African-Americans reported a history of asthma (33.6% vs 15.6%, p < 0.0001). Subjects with COPD and asthma demonstrated worse disease-related quality of life, were more likely to have had a severe COPD exacerbation in the past year, and were more likely to experience frequent exacerbations (OR 3.55 [2.19, 5.75], p < 0.0001). Subjects with COPD and asthma demonstrated greater gas-trapping on chest CT. There were no differences in spirometry or CT measurements of emphysema or airway wall thickness. Conclusion Subjects with COPD and asthma represent a relevant clinical population, with worse health-related quality of life. They experience more frequent and severe respiratory exacerbations despite younger age and reduced lifetime smoking history. Trial registration NCT00608764



Genetic Epidemiology, Hematological and Clinical Features of Hemoglobinopathies in Iran  

PubMed Central

There is large variation in the molecular genetics and clinical features of hemoglobinopathies in Iran. Studying structural variants of hemoglobin demonstrated that the ?-chain variants of hemoglobin S and D-Punjab are more prevalent in the Fars (southwestern Iran) and Kermanshah (western Iran) provinces, respectively. Also, ?-chain variants of Hb Q-Iran and Hb Setif are prevalent in western Iran. The molecular basis and clinical severity of thalassemias are extremely heterogenous among Iranians due to the presence of multiethnic groups in the country. ?-Thalassemia is more prevalent in northern and southern Iran. Among 52 different ?-thalassemia mutations that have been identified among Iranian populations, IVSII-1 G:A is the most frequent mutation in most parts of the country. The presence of IVS I-5 G:C mutation with high frequency in southeastern Iran might reflect gene flow from neighboring countries. A wide spectrum of ?-thalassemia alleles has been detected among Iranians with ??3.7?kb as the most prevalent ?-thalassemia mutation. The prevention program of thalassemia birth in Iran has reduced the birth rate of homozygous ?-thalassemia since the implementation of the program in 1997. In this review genetic epidemiology, clinical and hematological aspects of hemoglobinopathies, and the prevention programs of ?-thalassemia in Iran will be discussed.

Rahimi, Zohreh



Clinical features of the DOK7 neuromuscular junction synaptopathy.  


Mutations in DOK7 have recently been shown to underlie a recessive congenital myasthenic syndrome (CMS) associated with small simplified neuromuscular junctions ('synaptopathy') but normal acetylcholine receptor and acetylcholinesterase function. We identified DOK7 mutations in 27 patients from 24 kinships. Mutation 1124_1127dupTGCC was common, present in 20 out of 24 kinships. All patients were found to have at least one allele with a frameshift mutation in DOK7 exon 7, suggesting that loss of function(s) associated with the C-terminal region of Dok-7 underlies this disorder. In 15 patients, we were able to study the clinical features in detail. Clinical onset was usually characterized by difficulty in walking developing after normal motor milestones. Proximal muscles were usually more affected than distal, leading to a 'limb-girdle' pattern of weakness; although ptosis was often present from an early age, eye movements were rarely involved. Patients did not show long-term benefit from anticholinesterase medication and sometimes worsened, and where tried responded to ephedrine. The phenotype can be distinguished from 'limb-girdle' myasthenia associated with tubular aggregates, where DOK7 mutations were not detected and patients respond to anticholinesterase treatments. CMS due to DOK7 mutations are common within our UK cohort and is likely to be under-diagnosed; recognition of the phenotype will help clinical diagnosis, targeted genetic screening and appropriate management. PMID:17452375

Palace, Jacqueline; Lashley, Daniel; Newsom-Davis, John; Cossins, Judy; Maxwell, Susan; Kennett, Robin; Jayawant, Sandeep; Yamanashi, Yuji; Beeson, David



Diffuse Lewy body disease: clinical features in 15 cases.  

PubMed Central

Fifteen cases of diffuse Lewy body disease were diagnosed on pathological grounds during a single year in one health district. The range and frequency of clinical features contrast strikingly with previous reports. The majority of cases presented with classical levodopa-responsive Parkinson's disease either alone (6 cases) or with mild cognitive impairment (3 cases); the remaining 6 cases presented with cognitive impairment alone. In time almost all patients developed both dementia and Parkinsonism. The dementia was cortical in type, but unusual in that most (12 cases) showed day-to-day fluctuation in severity at some point in their illness. These findings suggest that diffuse Lewy body disease is not rare, and that it presents in a range of ways from dementia with subsequent Parkinsonism to Parkinson's disease with subsequent dementia. The latter mode of presentation suggests that it should be considered as a significant pathological substrate of dementia in Parkinson's disease. Images

Byrne, E J; Lennox, G; Lowe, J; Godwin-Austen, R B



Clinical and echocardiographic features of aorto-atrial fistulas  

PubMed Central

Aorto-atrial fistulas (AAF) are rare but important pathophysiologic conditions of the aorta and have varied presentations such as acute pulmonary edema, chronic heart failure and incidental detection of the fistula. A variety of mechanisms such as aortic dissection, endocarditis with pseudoaneurysm formation, post surgical scenarios or trauma may precipitate the fistula formation. With increasing survival of patients, particularly following complex aortic reconstructive surgeries and redo valve surgeries, recognition of this complication, its clinical features and echocardiographic diagnosis is important. Since physical exam in this condition may be misleading, echocardiography serves as the cornerstone for diagnosis. The case below illustrates aorto-left atrial fistula formation following redo aortic valve surgery with slowly progressive symptoms of heart failure. A brief review of the existing literature of this entity is presented including emphasis on echocardiographic diagnosis and treatment.

Ananthasubramaniam, Karthik



Uhthoff's phenomena in MS-clinical features and pathophysiology.  


In the late 19(th) century, Wilhelm Uhthoff reported on a series of patients with acute optic neuritis who manifested similar recurrent, stereotyped visual symptoms that were of paroxysmal onset, short in duration, and reversible. These 'Uhthoff's phenomena', which are a feature of multiple sclerosis (MS) and other demyelinating diseases, can be triggered by factors including the perimenstrual period, exercise, infection, fever, exposure to high ambient temperatures, and psychological stress. Here, we characterize the clinical, pathophysiological and neurotherapeutic challenges associated with Uhthoff's phenomena, and discuss the differentiation of these events from other paroxysmal, acute or subacute changes in functional capabilities and neurological symptoms in MS. For instance, whereas MS exacerbations are contingent on immune dysregulation, Uhthoff's phenomena are predicated on ion channel modifications, in conjunction with thermoregulatory derangements that transiently alter the conduction properties of demyelinated axons. An understanding of these pathophysiological underpinnings of Uhthoff's phenomena is germane to their recognition and timely treatment. PMID:23732530

Frohman, Teresa C; Davis, Scott L; Beh, Shin; Greenberg, Benjamin M; Remington, Gina; Frohman, Elliot M



Clinical features of Todd's post-epileptic paralysis.  

PubMed Central

Two hundred and twenty nine patients with generalised tonic-clonic seizures were prospectively evaluated. Fourteen were identified who had transient focal neurological deficits thought to be Todd's post-epileptic paralysis (PEP). Eight of these 14 patients had underlying focal brain lesions associated with the postictal deficits. All patients with PEP were weak, but there was wide variation in the pattern (any combination of face, arm, leg), severity (plegia to mild), tone (spastic, flaccid, or normal), and reflexes (increased, decreased, or normal). Significant sensory loss occurred in only one patient. The only other signs of PEP were aphasia (in five patients all with underlying lesions) and gaze palsy (in four patients). Post-epileptic paralysis persisted from half an hour to 36 hours (mean of 15 hours). Post-epileptic paralysis may occur with the first seizure or after many years of seizures and does not appear after every seizure. The clinical features of PEP are thus heterogeneous.

Rolak, L A; Rutecki, P; Ashizawa, T; Harati, Y



Neuropathy in Navajo children: clinical and epidemiologic features.  


We describe a rare and apparently unique neuropathic syndrome among Navajo children living on the Navajo Reservation. Clinical features include sensorimotor neuropathy, corneal ulcerations, acral mutilation, poor weight gain, short stature, sexual infantilism, serious systemic infections, and liver derangement including Reye's syndrome-like episodes. Progressive CNS white matter lesions were diagnosed through magnetic resonance imaging. We identified 20 definite and 4 probable cases occurring between 1959 and 1986. Mean age at the time of 1st recognized symptom was 13 months (range, 1 month to 4 years 6 months). Ten individuals have died; 6 of the deaths occurred before 5 years of age. The incidence of this syndrome on the western Navajo reservation is 5 times higher than that on the eastern reservation (38 compared with 7 cases per 100,000 births). Although the etiology is unknown, this syndrome is consistent with an inborn error of metabolism, inherited in an autosomal recessive manner. PMID:2300261

Singleton, R; Helgerson, S D; Snyder, R D; O'Conner, P J; Nelson, S; Johnsen, S D; Allanson, J E



Pathologic and clinical features of pituitary adenomas showing TSH immunoreactivity.  


Patients with thyrotropin-secreting pituitary adenomas may present with mass effect, hypopituitarism, and/or hyperthyroidism. The spectrum of pathologic and clinical features of patients whose tumors demonstrate ?-thyrotropin immunoreactivity (?-TSH IR) has not been characterized. To characterize the phenotype of patients with pituitary adenomas with positive ?-TSH IR, we conducted a retrospective analysis of patient records of all adult patients (n = 1,223) undergoing pituitary surgery in our institution over one decade (1999-2009). The search identified 166 adults with tumors which had ?-TSH IR. These patients were individually matched to 166 patients whose tumors revealed no ?-TSH IR. Clinical, pathological, imaging and biochemical data were extracted. 332 patients, aged 51.4 ± 15.1 years [150 women (45 %) and 182 men (55 %)], with pituitary adenomas (mean tumor diameter ± SD: 22.7 ± 9.0 mm) were studied. The degree of ?-TSH IR was associated with the presence of central hyperthyroidism (p < 0.0001) or goiter (p = 0.0217). Patients whose tumors expressed more extensive ?-TSH IR were less likely to develop pituitary apoplexy than those without ?-TSH IR (p = 0.0428). In addition, the degree of ?-TSH IR correlated with the presence of immunoreactivity for ?-FSH (p < 0.0001), ?-LH (p < 0.0001), alpha subunit (p < 0.0001), and GH (p = 0.0036). Conclusions: Pituitary adenomas expressing ?-TSH IR were more likely to demonstrate immunoreactivity for ?-FSH, ?-LH, GH or alpha subunit. Patients with such tumors were more likely to exhibit hyperthyroidism and goiter, but less likely to develop pituitary apoplexy than patients without ?-TSH IR. These findings suggest that ?-TSH IR is associated with specific phenotypic features in patients with pituitary adenomas. PMID:22869255

Tritos, Nicholas A; Eppakayala, Samatha; Swearingen, Brooke; Hedley-Whyte, E Tessa; Miller, Karen K; Nachtigall, Lisa B; Grinspoon, Steven K; Biller, Beverly M K; Klibanski, Anne



Clinical and Histopathologic Features of Fluoroquinolone-Induced Liver Injury  

PubMed Central

Background & Aims Fluoroquinolone-induced liver injury is rare; no prospective studies of well-characterized case series have been published. We studied patients with fluoroquinolone-induced hepatoxicity, using data from the Drug-Induced Liver Injury Network (DILIN) to characterize injury patterns, outcomes, and associated features. Methods We identified subjects with fluoroquinolone hepatotoxicity who enrolled in the DILIN from September 2004 to January 2010. Demographic, clinical, and laboratory data were analyzed by descriptive statistical methods. Results Of the 679 registrants in the DILIN prospective study, 12 had hepatoxicity from fluoroquinolones (6 ciprofloxacin, 4 moxifloxacin, 1 levofloxacin, and 1 gatifloxacin). Seven were women; the median age was 57 years (range 23–80 years), and the median time from the start of fluoroquinolone therapy to symptoms was only 4 days (range 1–39 days). Nine cases developed symptoms on medication (2, 8, and 32 days after they stopped the medication, 3 patients each). Cases were equally distributed among hepatocellular injury (predominantly increased levels of alanine aminotransferase), cholestatic injury (predominantly increased levels of alkaline phosphatase [AP]), and both. Seven cases had immunoallergic features. Patients with mixed hepatocellular and cholestatic injury had mild disease without jaundice—all recovered. In contrast, 2 of 4 patients with hepatocellular injury and jaundice died, 1 of acute liver failure. One patient with cholestatic injury developed vanishing bile duct syndrome and required liver transplantation; another had a persistently increased serum level of AP. Conclusions Fluoroquinolone liver injury is rapid in onset and often has immunoallergic features, indicating a hypersensitivity reaction. The pattern of injury is can be hepatocellular, cholestatic, or mixed—mixed cases are the least severe. Acute and chronic liver failure can occur.

Orman, Eric S.; Conjeevaram, Hari S.; Vuppalanchi, Raj; Freston, James W.; Rochon, James; Kleiner, David E.; Hayashi, Paul H.



[New approaches in dystonia (clinical features, genetic issues and pathophysiology].  


Dystonia is defined by the occurrence of abnormal twisting movements and posture, and may be generalized or focal. Many subtypes of dystonias have been described, including monogenic forms (eg. DYT1 and DYT6), secondary dystonias related to metabolic disorders, forms due to brain lesions (including post-anoxic brain injury), and tardive dystonia. Dystonia may also be associated with myoclonus (myoclonus-dystonia, DYT11) or parkinsonism (rapid-onset dystonia parkinsonism DYT1). Paroxystic dystonias are a subgroup of paroxysmal dyskinesias. Diagnosis is based mainly on clinical features, age at onset, outcome, associated neurological signs, and brain MRI. Until recently, basal ganglia dysfunction and alterations of the sensory-motor network with maladaptive cortical plasticity were the core pathophysiological features of dystonia. Cerebellar and cerebello-thalamic anatomic-functional abnormalities may also play a role. The main objectives of this review are to highlight the principal characteristics of dystonias and to provide an overview of known culprit genes and environmental factors. Current pathophysiological knowledge, including anatomic-functional abnormalities, is summarized. PMID:22375360

Vidailhet, Marie; Grabli, David


Hepatopulmonary syndrome: update on pathogenesis and clinical features.  


Hepatopulmonary syndrome (HPS) is a serious vascular complication of liver disease that occurs in 5-32% of patients with cirrhosis. The presence of HPS markedly increases mortality. No effective medical therapies are currently available and liver transplantation is the only established treatment option for HPS. The definition and diagnosis of HPS are established by the presence of a triad of liver disease with intrapulmonary vascular dilation that causes abnormal arterial gas exchange. Experimental biliary cirrhosis induced by common bile duct ligation in the rat reproduces the pulmonary vascular and gas exchange abnormalities of human HPS and serves as a pertinent animal model. Pulmonary microvascular dilation and angiogenesis are two central pathogenic features that drive abnormal pulmonary gas exchange in experimental HPS, and thus might underlie HPS in humans. Defining the mechanisms involved in the microvascular alterations of HPS has the potential to lead to effective medical therapies. This Review focuses on the current understanding of the pathogenesis, clinical features and management of HPS. PMID:22751459

Zhang, Junlan; Fallon, Michael B



Clinical features of hemorrhoidal disease in renal transplant recipients.  


Hemorrhoidal disease is a frequent cause of morbidity among the general population with a reported incidence of 4.4%, but little is known about its incidence and clinical features in kidney transplant recipients. Among 116 patients who had undergone kidney transplantation and were evaluated for hemorrhoidal disease, 82 had no hemorrhoids (70.6%), 28 (24%) had grade I hemorrhoids, and 6 (5.4%) had grade II hemorrhoids at the pretransplantation evaluation. Twenty-seven out of 116 recipients (22.4%) developed grade III or IV hemorrhoids after transplantation and underwent surgery. Hemorrhoidal disease was more frequent in patients with a pretransplantation history of hemorrhoids, with a rapid weight increase in the posttransplantation period, or who were aged between 30 and 50 years. Immunosuppressive therapy may play an important role in the worsening of hemorrhoidal disease among kidney transplant recipients. A prompt diagnosis and surgical treatment, whenever necessary, is mandatory for patients with clinical signs of worsening of hemorrhoids. PMID:20534253

Tallarita, T; Gurrieri, C; Cappellani, A; Corona, D; Gagliano, M; Giuffrida, G; Caglià, P; Fiamingo, P; Giaquinta, A; Sinagra, N; Zerbo, D; Virzì, G; Veroux, P; Veroux, M



Clinical and laboratory features of Macedonian children with OCRL mutations.  


OCRL mutations, which are a hallmark of Lowe syndrome, have recently been found in patients with isolated renal phenotype (Dent-2 disease). In this report, we describe clinical and laboratory features in five Macedonian children with mutations in the OCRL gene. Children with a clinical diagnosis of Lowe syndrome or Dent disease underwent complete neurological and ophthalmological examination, imaging of the kidney and urinary tract, assessment of renal tubular function, and mutation analysis of the OCRL gene. Two children (18 months and 11 years, respectively) were diagnosed with Lowe syndrome on the basis of congenital cataracts, severe psychomotor retardation, and renal dysfunction. Both children had low molecular weight proteinuria (LMWP) and hypercalciuria, but not Fanconi syndrome. The older one had bilateral nephrolithiasis due to associated hypocitraturia and mild hyperoxaluria. Three children with asymptomatic proteinuria were diagnosed with Dent-2 disease; none had cataracts or neurological deficit. One child showed mild mental retardation. All had LMWP, hypercalciuria, and elevated enzymes (creatine phosphokinase, lactic dehydrogenase). All three children had an abnormal Tc-99m DMSA scan revealing poor visualization of the kidneys with a high radionuclide content in the bladder; none had nephrolithiasis or nephrocalcinosis. In conclusion, children with OCRL mutations may present with very mild phenotype (asymptomatic proteinuria with/without mild mental retardation) or severe classic oculocerebrorenal syndrome of Lowe. Elevated enzymes and abnormal results on the Tc-99m DMSA scan may be useful indicators for Dent-2 disease. PMID:21249396

Tasic, Velibor; Lozanovski, Vladimir J; Korneti, Petar; Ristoska-Bojkovska, Nadica; Sabolic-Avramovska, Vesna; Gucev, Zoran; Ludwig, Michael



Clinical presentation and metabolic features of overt and occult urolithiasis.  


Although pediatricians are frequently confronted with patients presenting urolithiasis symptoms without obvious stones, the syndrome of occult urolithiasis may be still viewed with some skepticism. We have compared the clinical and metabolic features of 197 children with obvious calculi, 189 with microcalculi (diameter ? 3 mm based on renal sonography), and 114 with symptoms of urolithiasis and normal renal sonography findings. Only microcalculi and normal sonography subjects with a urinary abnormality potentially leading to urolithiasis were included in the study. Age at presentation increased significantly (p?=?0.0001) in the groups in the order normal sonography to microcalculi to calculi groups. There was no significant difference among the three groups in terms of family history of urolithiasis, gender distribution, and degree of hypercalciuria, hyperuricosuria, hyperoxaluria, or hypocitraturia. The average frequency of pain attacks of patients with recurrent abdominal pain (RAP) ranged from 3.6 to 4.6 days of pain per month among the three groups, which is four to ninefold lower than that reported for children with functional or organic gastrointestinal RAP. The consistency of many clinical and urinary metabolic characteristics indicates a common underlying disorder in overt and occult urolithiasis. The increase of age at presentation from the normal sonography to microcalculi and calculi groups may reflect progressive crystal accretion leading ultimately to overt stone formation. PMID:21688190

Polito, Cesare; Apicella, Andrea; Marte, Antonio; Signoriello, Giuseppe; La Manna, Angela



Clinical and molecular features of Joubert syndrome and related disorders  

PubMed Central

Joubert syndrome (JBTS; OMIM 213300) is a rare, autosomal recessive disorder characterized by a specific congenital malformation of the hindbrain and a broad spectrum of other phenotypic findings that is now known to be caused by defects in the structure and/or function of the primary cilium. The complex hindbrain malformation that is characteristic of JBTS can be identified on axial magnetic resonance imaging and is known as the molar tooth sign (MTS); other diagnostic criteria include intellectual disability, hypotonia, and often, abnormal respiratory pattern and/or abnormal eye movements. In addition, a broad spectrum of other anomalies characterize Joubert syndrome and related disorders (JSRD), and may include retinal dystrophy, ocular coloboma, oral frenulae and tongue tumors, polydactyly, cystic renal disease (including cystic dysplasia or juvenile nephronophthisis), and congenital hepatic fibrosis. The clinical course can be variable, but most children with this condition survive infancy to reach adulthood. At least 8 genes cause JSRD, with some genotype-phenotype correlations emerging, including the association between mutations in the MKS3 gene and hepatic fibrosis characteristic of the JSRD subtype known as COACH syndrome. Several of the causative genes for JSRD are implicated in other ciliary disorders, such as juvenile nephronophthisis and Meckel syndrome, illustrating the close association between these conditions and their overlapping clinical features that reflect a shared etiology involving the primary cilium.

Parisi, Melissa A.



Clinical and genetic features in Italian Bietti crystalline dystrophy patients  

PubMed Central

Aim The aim of the study was to describe the clinical and genetic features of 15 Italian patients with Bietti crystalline dystrophy (BCD). Methods All study participants underwent a complete ophthalmological examination, including standard electroretinogram (ERG), optical coherence tomography, microperimetry, autofluorescence and multifocal electroretinogram. The 11 exons of the CYP4V2 gene were sequenced. The effect of mutations on protein function was estimated by a combination of web based programs. Results 15 patients (eight women, 7 men, aged 29–60?years) with BCD were recruited into this study. Sequencing of CYP4V2 revealed nine sequence variants in four unrelated families and six isolated individuals with BCD. Seven of these variants were novel. Among the patients, even with the same genotype, considerable variability in phenotypic expression with different degrees of accumulation of the typical intraretinal crystalline deposits was detected. Moreover, we found that more than 50% of patients had recordable standard ERG responses and in two patients the responses were within normal limits after 20?years of symptom onset. Conclusions In conclusion, we have reported seven new mutations and illustrated the large range of genotypic and phenotypic variability in BCD, highlighting the lack of a clear genotype–phenotype correlation and underlining the existence of less severe clinical manifestations, probably linked to relatively mild mutations.

Rossi, Settimio; Testa, Francesco; Li, Anren; Yaylacioglu, Fulya; Gesualdo, Carlo; Hejtmancik, J Fielding; Simonelli, Francesca



Schizencephaly: clinical and imaging features in 30 infantile cases.  


Schizencephaly is an uncommon structural disorder of cerebral cortical development, characterized by congenital clefts spanning the cerebral hemispheres from the pial surface to the lateral ventricles and lined by cortical gray matter. Either an antenatal environmental incident or a genetic origin could be responsible for this lesion which occurs between the third and fourth month of gestation. We report the clinical and cranial imaging features of 30 children, of whom 15 had unilateral and 15 had bilateral lesions. Their ages at the time of the first presentation ranged from 1 month to 10 years. They were thoroughly studied from clinical, epileptical, imaging and electroencephalographic (EEG) viewpoints. Five patients were investigated by cranial computed tomography (CT), eight by cranial magnetic resonance (MR) imaging, and 17 by both methods. The clinical features consisted of mild hemiparesis in 17 cases (57%), 12/17 were related to a unilateral phenotype (80% of all unilateral forms) and 5/17 to a bilateral phenotype. A tetraparesis was present in nine cases, all of which were due to a bilateral cleft. Bilateral forms were significantly associated with tetraparesis, whereas unilateral forms were associated with hemiparesis. Mental retardation was observed in 17 cases (57%), and was observed significantly more often in bilateral clefts (80%). When both hemispheres are involved, an absence of reorganization of the brain function between the two hemispheres leads to severe mental deficits, in addition to the cerebral anomaly itself. Eleven patients had seizures (seven from unilateral and three from bilateral forms). The degree of malformation was not related to the severity of epilepsy. Migration disorders, such as dysplasia or heterotopia, were observed in 30% of cases and are also important etiopathogenetic factors. The septum pellucidum was absent in 13 cases (43%), with septo-optical dysplasia in two cases. Corpus callosum dysgenesis was noted in 30% of cases. Four cases of mega cisterna magna were noted. Although familial cases and environmental factors have been previously reported, schizencephaly appears to be, in the majority of cases, sporadic. PMID:11111060

Denis, D; Chateil, J F; Brun, M; Brissaud, O; Lacombe, D; Fontan, D; Flurin, V; Pedespan, J



Ischemic stroke of unusual cause: clinical features, etiology and outcome.  


The clinical features, etiology and neurological outcome of ischemic stroke of unusual cause (ISUC) have rarely been reported. We retrospective reviewed all patients with this stroke subtype entered in the Sagrat Cor Hospital of Barcelona Stroke Registry, which includes data from 2000 consecutive first-ever stroke patients admitted to the hospital between 1986 and 1995. Patients with previous ischemia and/or hemorrhagic stroke were excluded. Topographic, anamnestic, clinical and neuroimaging characteristics of ISUC were assessed. Predictors of this stroke subtype were determined by logistic regression analysis. Ischemic stroke of unusual etiology was diagnosed in 70 patients (32 men and 38 women), with a mean +/- SD age of 52 +/- 22.4 years. This stroke subtype accounted for 4.3% of all first-ever strokes and 6% of all first-ever brain infarcts. Etiologies included hematological disorders in 17 cases, infection in 11, migraine stroke in 10, cerebral infarction secondary to venous thrombosis in nine, primary inflammatory vascular conditions in six and miscellaneous causes in 17. In the multivariate analysis after excluding cerebral venous thrombosis (n = 9) and arterial dissection (n = 4), because of typical clinical and radiological features, independent predictors of ISUC included 45 years of age or less (odds ratio [OR] 14.8), seizures (OR 6.8), headache (OR 5.2), hemianopia (OR 2.6) and occipital lobe involvement (OR 3.0). Patients with ISUC presented a lower in-hospital mortality rate (7.1% vs. 14.4%; P < 0.05), were more frequently symptom free at discharge (35.7% vs. 25.80%; P < 0.05) and experienced a longer mean length of hospital stay (23.7 days vs. 18.2 days; P = 0.06) than non-ISUC patients. We conclude that ISUC is infrequent, etiologies are numerous and hematologic disorders are the most frequent cause. We emphasize the better prognosis and the need to distinguish it from other ischemic stroke subtypes which have a different treatment approach and outcome. PMID:11430270

Arboix, A; Bechich, S; Oliveres, M; García-Eroles, L; Massons, J; Targa, C



Clinical, Epidemiologic, Histopathologic and Molecular Features of an Unexplained Dermopathy  

PubMed Central

Background Morgellons is a poorly characterized constellation of symptoms, with the primary manifestations involving the skin. We conducted an investigation of this unexplained dermopathy to characterize the clinical and epidemiologic features and explore potential etiologies. Methods A descriptive study was conducted among persons at least 13 years of age and enrolled in Kaiser Permanente Northern California (KPNC) during 2006–2008. A case was defined as the self-reported emergence of fibers or materials from the skin accompanied by skin lesions and/or disturbing skin sensations. We collected detailed epidemiologic data, performed clinical evaluations and geospatial analyses and analyzed materials collected from participants' skin. Results We identified 115 case-patients. The prevalence was 3.65 (95% CI?=?2.98, 4.40) cases per 100,000 enrollees. There was no clustering of cases within the 13-county KPNC catchment area (p?=?.113). Case-patients had a median age of 52 years (range: 17–93) and were primarily female (77%) and Caucasian (77%). Multi-system complaints were common; 70% reported chronic fatigue and 54% rated their overall health as fair or poor with mean Physical Component Scores and Mental Component Scores of 36.63 (SD?=?12.9) and 35.45 (SD?=?12.89), respectively. Cognitive deficits were detected in 59% of case-patients and 63% had evidence of clinically significant somatic complaints; 50% had drugs detected in hair samples and 78% reported exposure to solvents. Solar elastosis was the most common histopathologic abnormality (51% of biopsies); skin lesions were most consistent with arthropod bites or chronic excoriations. No parasites or mycobacteria were detected. Most materials collected from participants' skin were composed of cellulose, likely of cotton origin. Conclusions This unexplained dermopathy was rare among this population of Northern California residents, but associated with significantly reduced health-related quality of life. No common underlying medical condition or infectious source was identified, similar to more commonly recognized conditions such as delusional infestation.

Pearson, Michele L.; Selby, Joseph V.; Katz, Kenneth A.; Cantrell, Virginia; Braden, Christopher R.; Parise, Monica E.; Paddock, Christopher D.; Lewin-Smith, Michael R.; Kalasinsky, Victor F.; Goldstein, Felicia C.; Hightower, Allen W.; Papier, Arthur; Lewis, Brian; Motipara, Sarita; Eberhard, Mark L.



Characterization of the melA Locus for ?-Galactosidase in Lactobacillus plantarum  

PubMed Central

Alpha-galactosides are abundant sugars in legumes such as soy. Because of the lack of ?-galactosidase (?-Gal) in the digestive tract, humans are unable to digest these sugars, which consequently induce flatulence. To develop the consumption of the otherwise highly nutritional soy products, the use of exogenous ?-Gal is promising. In this framework, we characterized the melA gene for ?-Gal in Lactobacillus plantarum. The melA gene encodes a cytoplasmic 84-kDa protein whose enzymatically active form occurs as oligomers. The melA gene was cloned and expressed in Escherichia coli, yielding an active ?-Gal. We show that melA is transcribed from its own promoter, yielding a monocistronic mRNA, and that it is regulated at the transcriptional level, i.e., it is induced by melibiose but is not totally repressed by glucose. Posttranscriptional regulation by the carbon source could also occur. Upstream of melA, a putative galactoside transporter, designated RafP, was identified that shows high homology to LacS, the unique transporter for both ?- and ?-galactosides in Streptococcus thermophilus. rafP is also expressed as a monocistronic mRNA. Downstream of melA, the lacL and lacM genes were identified that encode a heterodimeric ?-galactosidase. A putative galM gene identified in the same cluster suggests the presence of a galactose operon. These results indicate that the genes involved in galactoside catabolism are clustered in L. plantarum ATCC 8014. This first genetic characterization of melA and of its putative associated transporter, rafP, in a lactobacillus opens doors to various applications both in the manufacture of soy-derived products and in probiotic and nutraceutical issues.

Silvestroni, Aurelio; Connes, Cristelle; Sesma, Fernando; Savoy de Giori, Graciela; Piard, Jean-Christophe



Diffuse dermal angiomatosis of the breast: clinical and histopathological features.  


INTRODUCTION: Diffuse dermal angiomatosis is an entity in the spectrum of reactive angiomatoses characterized by erythematous plaques that mainly affect the lower extremities of patients with a personal history of peripheral vascular disease. Involvement of the breast is a rare event that has only been described as single cases in women with large breasts. OBJECTIVE: Our main aim is to report three rare cases of diffuse dermal angiomatosis of the breast and to better define their clinical, histopathological, and immunohistochemical characteristics. Comorbidities and management will also be discussed. METHODS: A retrospective search of patients with the diagnosis of diffuse dermal angiomatosis of the breast was made. Databases of three hospitals, Hospital 12 de Octubre (Madrid, Spain), Hospital La Fe (Valencia, Spain), and Clinica Dermatologica, University of Genoa (Italy), were included in the analysis. RESULTS: Three middle-aged women who were heavy smokers were found. Physical examination revealed several livedoid plaques on both breasts. Painful ulceration over the violaceous lesions was observed in two cases. Histological features included a diffuse proliferation of spindle-shaped endothelial cells with focal small vessel formation occupying the full thickness of the dermis with scanty extravasated erythrocytes, showing positivity for CD31, CD34, and SMA-? and negativity for D2-40. Management was focused on a strict control of comorbidities, especially on the cessation of smoking habit that led to a conspicuous improvement in all patients. CONCLUSIONS: We describe all those clinicopathologic features that define diffuse dermal angiomatosis of the breast, which should be considered a distinctive variant into the group of cutaneous angiomatoses. In our experience, a strict control of smoking habit must be the first step in the management of this entity. PMID:23488550

Sanz-Motilva, Virginia; Martorell-Calatayud, Antonio; Rongioletti, Franco; Escutia-Muñoz, Begoña; López-Gómez, Sara; Rodríguez-Peralto, Jose Luis; Vanaclocha, Francisco



Transformation of chronic myelogenous leukemia: clinical, morphologic, and cytogenetic features.  


The morphologic, cytogenetic, and clinical features of 58 patients with transformation of Philadelphia chromosome (Ph1) positive chronic myelogenous leukemia (CML) were evaluated. The patients were divided into two groups on the basis of blood and marrow findings: blast crisis and subacute transformation. The evolution of the leukemic process in 41 patients was classified as blast crisis based on one of three criteria: 30% or more blasts in blood and/or marrow smears, intramedullary focus of blast transformation in a marrow trephine biopsy, or blast transformation in an extramedullary site. The 17 patients with subacute transformation of CML had a deteriorating clinical and hematologic picture but did not manifest any of the criteria for blast crisis. The blood and marrow findings in this group of patients were characterized by several qualitative and quantitative changes, including anemia, thrombocytopenia, decreasing leukocyte count, increasing basophilia, myelofibrosis, dysplastic alterations in hematopoietic cells, and increased blasts which, however, never exceeded 25%. Chromosome abnormalities in addition to the Ph1 were found in 65% of the patients with blast crisis and 86% of the patients with subacute transformation. The 41 patients with blast crisis had a median survival of nine weeks; the 17 with subacute transformation had a median survival of 26 weeks. The shortest median survival for patients with blast crisis, four weeks, occurred in the patients with myeloid blast crisis with chromosome abnormalities in addition to the Ph. The longest median survival, 52 plus weeks, occurred in patients with lymphoid blast crisis with only the Ph1 at transformation. PMID:6588747

Muehleck, S D; McKenna, R W; Arthur, D C; Parkin, J L; Brunning, R D



Clinical and imaging features of the room tilt illusion.  


Room tilt illusion (RTI) is a transient disorder of the environmental visuo-spatial perception consisting of paroxysmal tilts of the visual scene. It is attributed to an erroneous cortical mismatch of the visual and vestibular three-dimensional coordinate maps. Thirteen subjects were included in this retrospective case series. Clinical presentation was 180º rotation of the visual scene following the coronal plane in seven patients. The most common cause for RTI in our series was posterior circulation ischaemia (five cases). Cases of endolymphatic sac tumour, critical illness neuropathy, acute traumatic myelopathy and multiple system atrophy causing RTI are reported for the first time. No case of supratentorial focal lesion was found. In order to describe the clinical and imaging features of RTI, 135 cases previously reported in the literature were reviewed along with our series. There was a male predominance (60.2 %). Mean age was 51.2 ± 20.3 years. The most common location of the injury was the central nervous system (CNS) (61.4 %). Supratentorial and infratentorial structures accounted for the same frequency of lesions. The most common aetiology was cerebral ischaemia (infarction or transient ischaemic episode; 27.7 %). These patients were significantly older and their lesions commonly involved posterior fossa structures when compared to patients with non-vascular disorders. In summary, RTI is a manifestation of several CNS and vestibular disorders, and rarely of peripheral nervous system disorders, triggered by disruption of vestibular and sensory perception or integration. Cerebral ischaemic disorders are the most common aetiology for this rare syndrome. PMID:22588254

Sierra-Hidalgo, F; de Pablo-Fernández, E; Herrero-San Martín, A; Correas-Callero, E; Herreros-Rodríguez, J; Romero-Muñoz, J P; Martín-Gil, L



Clinical Features of Newly Diagnosed Cytomegalovirus Retinitis in Northern Thailand  

PubMed Central

Purpose To characterize the clinical manifestations of cytomegalovirus (CMV) retinitis in northern Thailand. Design Prospective, observational cross-sectional study. Methods We recorded characteristics of 52 consecutive patients newly diagnosed with CMV retinitis at a tertiary university-based medical center in northern Thailand. Indirect ophthalmoscopy by experienced ophthalmologists was supplemented with fundus photography to determine the proportion of eyes with various clinical features of CMV retinitis. Results Of the 52 patients with CMV retinitis, 55.8% were female. All were HIV-positive. The vast majority (90.4%) had started antiretroviral therapy. CMV retinitis was bilateral in 46.2% of patients. Bilateral visual acuity worse than 20/60 was observed in 23.1% of patients. Of 76 eyes with CMV retinitis, 61.8% had zone I disease and 21.6% had lesions involving the fovea. Lesions larger than 25% of the retinal area were observed in 57.5% of affected eyes. CMV retinitis lesions commonly had marked or severe border opacity (47.4% of eyes). Vitreous haze was often present (46.1% of eyes). Visual impairment was more common in eyes with larger retinitis lesions. Retinitis lesion size, used as a proxy for duration of disease, was associated with fulminant appearance (OR 1.24 [1.01 – 1.51]), and marked or severe border opacity (OR 1.36 [1.11 – 1.67]). Based on lesion size, retinitis preceded antiretroviral treatment in each patient. Conclusions Patients presenting to a tertiary medical center in northern Thailand have advanced CMV retinitis, possibly due to delayed diagnosis. Earlier screening and treatment of CMV retinitis may limit progression of disease and prevent visual impairment in this population.

Ausayakhun, Somsanguan; Keenan, Jeremy D; Ausayakhun, Sakarin; Jirawison, Choeng; Khouri, Claire M; Skalet, Alison H; Heiden, David; Holland, Gary N; Margolis, Todd P



Clinical features of brain metastasis from salivary gland tumors.  


Salivary gland tumors comprise a group of 24 tumor subtypes with a wide range of clinical behaviors and propensities for metastasis. Several prognostic factors have been identified that help predict the development of systemic metastases, most commonly to the lung, liver, or bone. Metastases to the brain are rare. To better understand the behavior of salivary gland tumors that metastasise to the brain, we performed a retrospective cohort analysis on a series of patients to highlight features of their medical and surgical management. From 2007 to 2011, a database of 4117 elective craniotomies were queried at a single institution to identify patients surgically treated for salivary gland metastases to the brain. Three patients were identified. Histologic subtypes included salivary duct carcinoma, poorly differentiated carcinoma, and papillary mucinous adenocarcinoma. They had all undergone previous treatment for their primary malignancy. The mean time to intracranial metastasis was 48months from initial diagnosis (range, 14-91months). Treatment for intracranial metastases included surgical resection, whole brain radiation, stereotactic radiosurgery, and chemotherapy. Intracranial metastases from salivary gland tumors are rare, present years after diagnosis of the primary tumor, and are treatable with multimodality therapy. PMID:23685104

Venteicher, Andrew S; Walcott, Brian P; Sheth, Sameer A; Snuderl, Matija; Patel, Anoop P; Curry, William T; Nahed, Brian V



Adenylosuccinase deficiency: possibly underdiagnosed encephalopathy with variable clinical features.  


Adenylosuccinase deficiency is an autosomal recessive inherited defect of purine synthesis. In enzyme deficient patients, two normally undetectable compounds, succinylaminoimidazole carboxamide riboside and succinyladenosine, accumulate in urine, cerebrospinal fluid and, to a minor extent, in plasma. Analysing 150 highly selected urine specimens from patients with unidentified neurogenerative disorders we discovered the first two German cases of adenylosuccinase deficiency. The deficiency causes moderate to severe mental retardation, often accompanied by epileptic seizures and/or autistic features, and is occasionally associated with growth retardation and muscular hypotonia. Of the two German cases we present here, one patient fits into the clinical picture outlined by previous reports. The other patient, however, shows a pattern of symptoms so far undescribed: severe early infantile epileptic encephalopathy with reduced myelination. On mutation analysis this patient is the first to reveal a 39 base pair deletion in the adenylosuccinase gene in contrast to the point mutations detected in previous cases. Adenylosuccinase deficiency may be an underdiagnosed metabolic disorder with variable expression. This should be taken into consideration in patients with unclassified neurological conditions. PMID:10727185

Köhler, M; Assmann, B; Bräutigam, C; Storm, W; Marie, S; Vincent, M F; Van den Berghe, G; Simmonds, H A; Hoffmann, G F



Clinical and morphological features of hypertrophic cardiomyopathy in Korean patients.  

PubMed Central

Thirty three cases of hypertrophic cardiomyopathy (HCMP) were reviewed to estimate the relative frequencies of the subtypes of HCMP and to clarify whether there is any racial difference in clinical and morphological features of HCMP. The diagnosis was made by echocardiography, cardiac catheterization and left ventriculography. Twenty four patients underwent coronary angiogram. Numbers of cases by the types of HCMP were 20 (61%) with asymmetrical septal hypertrophy (ASH), 11 (33%) with apical hypertrophy (APH) and 2 (6%) with midventricular hypertrophy (MVH). Mean ages of the patients with APH, ASH and MVH were 54, 46 and 31 years respectively, and the differences were statistically significant (p less than 0.05). The giant negative T wave on electrocardiogram was seen in 4 patients (20%) of ASH and 5 patients (45%) of APH. On echocardiogram mean ratio of interventricular septal to left ventricular posterior wall thickness was 1.9 in ASH, 1.2 in APH and 1.6 in MVH, and the differences were statistically significant (p less than 0.05). All patients with APH showed "spade of ace" deformity in left ventriculography. Coronary angiograms were normal in all patients who had the procedure. Our study showed high frequency of APH of which characteristics were similar to those of the Japanese type APH.

Park, Y. B.; Lee, W. S.; Kim, D. K.; Choi, Y. S.; Seo, J. D.; Lee, Y. W.



Risk factors and clinical features of text message injuries.  


Use of mobile phone and sending text message is a very common in today's life. While sending a text message the users need to use their thumb and other palm muscles extensively. The thumb most of the time adducted on the key pad of the mobile and use high force to type the letters. Studies in literature showed that text messaging has an adverse effect on musculoskeletal system of hand. But the extensive study on the type of disorders set in among the users who extensively use mobile phone for texting. This study aims at to evaluate risk factor and clinical feature of the MSD due to hand held devices. Twenty seven subjects participated in this study. Predefined protocols were used to evaluate type of MSD occurred among the subjects. The study revealed that development of tendinitis in extensor pollicis longus, myofascial pain syndrome (70.37%) of adductor pollicis, 1st interossei and extensor digitorum communis . Other associated problems diagnosed were thoracic outlet syndrome (51.85%), fibromyalgia syndrome (25.93%), hypothyroidism (7.41%), wrist tendinitis (14.81%) and De Quervain's syndrome (7.41%). It has been observed that the pathology were tendinitis of extensor pollicis longus, myofascial pain syndrome of thenar muscles and 1st interossei, extensor digitorum communis. PMID:22316873

Sharan, Deepak; Ajeesh, P S



Prevalence and clinical features of chronic pancreatitis in southern India.  


We have conducted a field study in India in the state of Kerala involving 28,567 inhabitants to determine the prevalence and clinical features of chronic pancreatitis of the tropics (CPT), an illness that is endemic in several regions of India. Selection criteria for the present study included: 1. Characteristic abdominal pain; 2. Evidence of diabetes mellitus; and 3. Evidence of malnutrition/malabsorption. A diagnosis of chronic calcific pancreatitis (CCP) was established by evidence of either 1, 2, or 3 plus X-ray evidence of pancreatic calculi. Diagnosis of noncalcifying chronic pancreatitis (NCCP) was established by 1, 2, or 3 plus an abnormal ultrasound of the pancreas and an abnormal bentiromide test. CPT was discovered among 36 individuals (prevalence 1:793). Strict entry criteria may have excluded additional cases. CPT was far advanced at the time of diagnosis in that 28 had evidence of calcification, 19 had diabetes mellitus, and 27 had an abnormal bentiromide test. The major differences from previous hospital-based studies were female predominance (male/female ratio, 1:1.8), onset of disease at an older age (mean 23.9 yr), and evidence of milder disease. We conclude that previous hospital-based reports that CPT is a severe illness with a male predominance may reflect greater access of seriously ill individuals in general and males in particular to medical care. PMID:8195640

Balaji, L N; Tandon, R K; Tandon, B N; Banks, P A



Delta hepatitis: molecular biology and clinical and epidemiological features.  

PubMed Central

Hepatitis delta virus, discovered in 1977, requires the help of hepatitis B virus to replicate in hepatocytes and is an important cause of acute, fulminant, and chronic liver disease in many regions of the world. Because of the helper function of hepatitis delta virus, infection with it occurs either as a coinfection with hepatitis B or as a superinfection of a carrier of hepatitis B surface antigen. Although the mechanisms of transmission are similar to those of hepatitis B virus, the patterns of transmission of delta virus vary widely around the world. In regions of the world in which hepatitis delta virus infection is not endemic, the disease is confined to groups at high risk of acquiring hepatitis B infection and high-risk hepatitis B carriers. Because of the propensity of this viral infection to cause fulminant as well as chronic liver disease, continued incursion of hepatitis delta virus into areas of the world where persistent hepatitis B infection is endemic will have serious implications. Prevention depends on the widespread use of hepatitis B vaccine. This review focuses on the molecular biology and the clinical and epidemiologic features of this important viral infection.

Polish, L B; Gallagher, M; Fields, H A; Hadler, S C



Rodent model of reproductive tract leiomyomata. Clinical and pathological features.  

PubMed Central

Mesenchymal tumors of the lower reproductive tract of women are poorly understood at the molecular level as a result in part of the lack of relevant animal models. The present study describes a novel model of gynecological smooth muscle tumors in which these neoplasms arise in Eker rats as part of a familial cancer syndrome. The tumors develop as a result of a germline mutation in the tuberous sclerosis 2 (TSC2) gene, and predisposition to tumor development is inherited in an autosomal dominant fashion. Uterine and/or cervical tumors arise spontaneously as single or multicentric neoplasms and increase in incidence with increasing age. The tumors were classified into three phenotypic variants of leiomyoma/leiomyosarcoma and into stromal cervicovaginal tumors on the basis of cytological and histological features and immunostaining patterns for smooth muscle actin and desmin. Tumors histologically identical to the typical human myometrial leiomyoma arose, as did a subset of atypical leiomyomas having an epithelioid phenotype. Eker rats were found to develop both benign and malignant smooth muscle tumors. The high spontaneous incidence of smooth muscle tumors of uterus and cervix in this rodent model provides a unique opportunity to study the molecular mechanisms underlying the development of these clinically important gynecological neoplasms. Images Figure 1 Figure 2 Figure 3 Figure 4 Figure 5 Figure 6 Figure 7

Everitt, J. I.; Wolf, D. C.; Howe, S. R.; Goldsworthy, T. L.; Walker, C.



Clinical features of idiopathic megarectum and idiopathic megacolon.  

PubMed Central

BACKGROUND: Dilatation of the rectum and/or colon, in the absence of demonstrable organic disease, is an uncommon and poorly characterised condition. AIMS: To characterise the clinical and diagnostic features, and response to treatment, of patients with idiopathic megarectum (IMR) and idiopathic megacolon (IMC). METHODS: A retrospective review was undertaken of all patients operated on for these conditions over a 23 year period. In addition all patients treated over a three year period were prospectively studied by means of a questionnaire, contrast studies of the upper and lower intestine, spine x rays to exclude spinal dysraphism, anorectal physiological studies, and assessment of clinical outcome. Patients with Hirschsprung's disease and other known causes of gut dilatation were excluded. RESULTS: (i) Retrospective study: Of 63 operated patients, 22 had IMR, 23 had IMR and IMC, and 18 had IMC only. Five patients with IMC had previous sigmoid volvulus, and three had associated non-gastrointestinal congenital abnormalities. Faecal incontinence was always associated with rectal impaction and 14 patients (82%) with IMR alone had had manual disimpaction. (ii) Prospective study: Twenty two patients had IMR, with a median rectal diameter of 10 cm (normal < 6.5 cm). Six patients had IMC and one patient had IMR and IMC. Patients with IMR were significantly (p = 0.0007) younger than patients with IMC. All patients with IMR became symptomatic in childhood, compared with half the patients with IMC who developed symptoms as adults. Patients with IMR all presented with soiling and impaction, compared with patients with IMC whose symptoms were variable and included constipation or increased bowel frequency, pain, and variable need for laxatives. No upper gut dilatation was seen in either group of patients. Spinal dysraphism was seen in two of 18 patients with IMR and two of four with IMC, suggesting extrinsic denervation as a possible cause in a minority. Twelve of 22 patients with IMR had a maximum anal resting pressure below normal, indicating sphincter damage or inhibition. Both IMR and IMC patients had altered rectal sensitivity to distension, suggesting that despite lack of dilatation the rectum in IMC has altered viscoelasticity, tone, or sensory function. Fifteen of 22 patients with IMR were successfully managed with laxatives or enemas, but seven required surgery. Two of seven patients with IMC required surgery, including one for sigmoid volvulus. CONCLUSIONS: Patients with IMR differ clinically, diagnostically, and in their outcome from patients with IMC. These conditions demand specific investigation, and intensive treatment, to achieve optimum care.

Gattuso, J M; Kamm, M A



Morphological variability of black bullhead Ameiurus melas in four non-native European populations.  


External morphology in black bullhead Ameiurus melas, a fish species considered to have high invasive potential, was studied in its four non-native European populations (British, French, Italian and Slovak). The aim of this study was to examine this species' variability in external morphology, including ontogenetic context, and to evaluate its invasive potential. Specimens from all non-native populations reached smaller body size compared to individuals from native populations. Juvenile A. melas were found to have a relatively uniform body shape regardless of the population's origin, whereas adults developed different phenotypes depending upon location. Specimens from the U.K., Slovak and French populations appeared to be rather similar to each other, whereas the Italian population showed the most distant phenotype. This probably results from the different thermal regime in the Italian habitat. Ameiurus melas from non-native European populations examined in this study showed some potential to alter the body shape both within and between populations. The phenotypic plasticity of A. melas, however, was not found to be as significant as in other invasive fish species. The results suggest that morphological variability itself is not necessarily essential for invasive success. The invasiveness of A. melas is therefore probably favoured by variations in its life-history traits and reproduction variables, together with some behavioural traits (e.g. voracious feeding and parental care) rather than by phenotypic plasticity expressed in external morphology. PMID:23557294

Novomeská, A; Katina, S; Copp, G H; Pedicillo, G; Lorenzoni, M; Pompei, L; Cucherousset, J; Ková?, V



Clinical Features of Ulcerative Colitis and Crohn's Disease in Turkey  

Microsoft Academic Search

Background and Aims: This study is aimed at determining the clinical and socio-demographic characteristics of Turkish patients with infl ammatory bowel disease who have been treated in a tertiary referral center. Patients and Methods: The study was conducted between 1993 and 2007 at Ankara Yuksek Ihtisas Hospital, Inflammatory Bowel Disease Clinics. The clinical and epidemiologic data from this clinic were

Yasemin Ozin; Mesut Zeki; Yalin Kilic; Isilay Nadir; Basak Cakal; Selcuk Disibeyaz; Mehmet Arhan; Ulku Dagli; Bilge Tunc; Aysel Ulker; Burhan Sahin


Clinical Features of Korean Patients with Congenital Aniridia  

PubMed Central

Purpose To investigate the clinical features of Korean patients with congenital aniridia. Methods This retrospective study focused on 60 eyes from 31 patients who were diagnosed with congenital aniridia at Kangnam St. Mary's Hospital from 1996 to 2007. Patient age, gender, visual acuity (VA), family history, and previous ocular history were recorded. The presence of keratopathy, glaucoma, cataract, foveal hypoplasia, and other ocular or systemic anomalies were evaluated for each patient. Results The proportion of sporadic cases was 29.0%. Cataract (82.5%), glaucoma (51.6%), keratopathy (71.6%), and foveal hypoplasia (81.8%) commonly accompanied aniridia. Thirty-four (60.7%) eyes had VAs less than 20/200 and 20 eyes (35.7%) had VAs between 20/200 and 20/60. In patients without a past history of ocular surgery, the mean central corneal thickness was 643.05 ± 37.67 µm and the mean endothelial cell count was 3,349.44 ± 408.17 cells/mm2. Ocular surface surgeries were performed in 6 eyes. The clarity of the transplanted corneal graft vanished in 5 eyes with the progression of peripheral neovascularization and subepithelial fibrosis. The mean age of cataract surgery in 8 eyes was 29.8 ± 5.9 years. Postoperative worsening of corneal clouding and glaucomatous damage were observed in 4 eyes. Two infants had bilateral congenital glaucoma. Two children with sporadic aniridia were identified to have Wilm's tumors. Conclusions Congenital aniridia is a progressive congenital disorder that is commonly accompanied by complications that can lead to impaired vision. Regular, careful examinations for these accompanying complications should be performed in all patients with congenital aniridia.

Park, Shin Hae; Park, Young Gun; Lee, Mee Yon



Clinical, laboratory and radiographic features in early rheumatoid arthritis.  


We evaluated disease status in relation to age, sex and disease duration using some short term indices of disease activity, laboratory tests, and radiological features in 315 patients with rheumatoid arthritis of duration varying from 3 to 36 months (mean 12 months). No differences were observed among various age groups in disease duration, female/male ratio, incidence of radiologic lesions and other indices of disease process. Some clinical markers of the disease process such as involvement of the flexor tendons of the hands and Ritchie's index (score greater than 9) were significantly more frequent in the women (p less than 0.0013 and p less than 0.04, respectively). In the patients with disease of recent onset women were slightly more numerous (56%) than men; however, in those with disease duration of 36 months there were significantly more women (72%) (p less than 0.039), suggesting a greater tendency to chronic disease in this sex. Radiological lesions of the small joints of the hands, feet, and/or wrists were found in 37% of the cases with disease duration of up to 4 months and in 91% at 36 months (p less than 0.0001). The lesions were associated significantly more frequently with Ritchie index (p less than 0.02) and with laboratory indices of inflammatory activity (erythrocyte sedimentation rate greater than or equal to 25 mm/h) (p less than 0.001) and immune response (latex test greater than or equal to 80) (p less than 0.0001). Logistic regression analysis showed that the duration of illness is the most important factor correlating with radiologic lesions. PMID:2254883

Caruso, I; Santandrea, S; Sarzi Puttini, P; Boccassini, L; Montrone, F; Cazzola, M; Azzolini, V; Segre, D



[Thymoma-associated myasthenia gravis: Clinical features and surgical results.  


OBJECTIVE: The aim of this study was to compare the characteristics of myasthenic patients with and without thymoma, and the results of thymectomy in both types of patients. MATERIAL AND METHODS: A retrospective study was conducted among 66 patients who underwent thymectomy for myasthenia gravis in our department over a 10-year period (2000-2010). The surgical approach was sternotomy or anterolateral thoracotomy. Patients were divided into two groups according to the presence of thymoma: with (T-MG) and without (NT-MG) thymoma. Complete stable remission (CSR) was the primary endpoint. RESULTS: Median age was 35.09±9.89years. The NT-MG group had 38 patients (57.57%) and the T-MG group 28 patients (42.43%). There was no difference between the two groups regarding the surgical approach (P=0.52). T-MG patients were older (40.54±15.16 vs. 31.37±9.46) (P=0.008) and predominantly male. There were more generalized forms (P=0.01) and more bulbar involvement (P=0.02) in the T-MG group. The rate of CSR at 5years was 7% and 17% in the T-MG and NT-MG patients respectively (P=0.70). At 10years, it was 36% and 94.73% respectively (P=0.03). CONCLUSION: Thymomatous myasthenia gravis is characterized by the severity of its clinical features. Remission rate at 10years was significantly lower in the myasthenia with thymoma group. PMID:23639728

Bouchikh, M; El Malki, H O; Ouchen, F; Achir, A; Benosman, A



Difference of clinical features in childhood Mycoplasma pneumoniae pneumonia  

PubMed Central

Background M. pneumoniae pneumonia (MP) has been reported in 10-40% of community-acquired pneumonia cases. We aimed to evaluate the difference of clinical features in children with MP, according to their age and chest radiographic patterns. Methods The diagnosis of MP was made by examinations at both admission and discharge and by two serologic tests: the indirect microparticle agglutinin assay (?1:40) and the cold agglutinins titer (?1:32). A total of 191 children with MP were grouped by age: ?2 years of age (29 patients), 3-5 years of age (81 patients), and ?6 years of age (81 patients). They were also grouped by pneumonia pattern: bronchopneumonia group (96 patients) and segmental/lobar pneumonia group (95 patients). Results Eighty-six patients (45%) were seroconverters, and the others showed increased antibody titers during hospitalization. Among the three age groups, the oldest children showed the longest duration of fever, highest C-reactive protein (CRP) values, and the most severe pneumonia pattern. The patients with segmental/lobar pneumonia were older and had longer fever duration and lower white blood cell (WBC) and lymphocyte counts, compared with those with bronchopneumonia. The patient group with the most severe pulmonary lesions had the most prolonged fever, highest CRP, highest rate of seroconverters, and lowest lymphocyte counts. Thrombocytosis was observed in 8% of patients at admission, but in 33% of patients at discharge. Conclusions In MP, older children had more prolonged fever and more severe pulmonary lesions. The severity of pulmonary lesions was associated with the absence of diagnostic IgM antibodies at presentation and lymphocyte count. Short-term paired IgM serologic test may be mandatory for early and definitive diagnosis of MP.



Clinical features of paediatric pulmonary hypertension: a registry study  

PubMed Central

Summary Background Paediatric pulmonary hypertension, is an important cause of morbidity and mortality, and is insufficiently characterised in children. The Tracking Outcomes and Practice in Pediatric Pulmonary Hypertension (TOPP) registry is a global, prospective study designed to provide information about demographics, treatment, and outcomes in paediatric pulmonary hypertension. Methods Consecutive patients aged 18 years or younger at diagnosis with pulmonary hypertension and increased pulmonary vascular resistance were enrolled in TOPP at 31 centres in 19 countries from Jan 31, 2008, to Feb 15, 2010. Patient and disease characteristics, including age at diagnosis and at enrolment, sex, ethnicity, presenting symptoms, pulmonary hypertension classification, comorbid disorders, medical and family history, haemodynamic indices, and functional class were recorded. Follow-up was decided by the patients’ physicians according to the individual’s health-care needs. Findings 362 of 456 consecutive patients had confirmed pulmonary hypertension (defined as mean pulmonary artery pressure ?25 mm Hg, pulmonary capillary wedge pressure ?12 mm Hg, and pulmonary vascular resistance index ?3 WU/m32). 317 (88%) patients had pulmonary arterial hypertension (PAH), which was idiopathic [IPAH] or familial [FPAH] in 182 (57%), and associated with other disorders in 135 (43%), of which 115 (85%) cases were associated with congenital heart disease. 42 patients (12%) had pulmonary hypertension associated with respiratory disease or hypoxaemia, with bronchopulmonary dysplasia most frequent. Finally, only three patients had either chronic thromboembolic pulmonary hypertension or miscellaneous causes of pulmonary hypertension. Chromosomal anomalies, mainly trisomy 21, were reported in 47 (13%) of patients with confirmed disease. Median age at diagnosis was 7 years (IQR 3–12); 59% (268 of 456) were female. Although dyspnoea and fatigue were the most frequent symptoms, syncope occurred in 31% (57 of 182) of patients with IPAH or FPAH and in 18% (eight of 45) of those with repaired congenital heart disease; no children with unrepaired congenital systemic-to-pulmonary shunts had syncope. Despite severe pulmonary hypertension, functional class was I or II in 230 of 362 (64%) patients, which is consistent with preserved right-heart function. Interpretation TOPP identifies important clinical features specific to the care of paediatric pulmonary hypertension, which draw attention to the need for paediatric data rather than extrapolation from adult studies. Funding Actelion Pharmaceuticals.

Berger, Rolf M F; Beghetti, Maurice; Humpl, Tilman; Raskob, Gary E; Ivy, D Dunbar; Jing, Zhi-Cheng; Bonnet, Damien; Schulze-Neick, Ingram; Barst, Robyn J



Clinical and Neuropsychological Features in Autopsy-Defined Vascular Dementia  

Microsoft Academic Search

Studies reporting that ischemic vascular dementia (IVD), compared to Alzheimer's disease (AD), is associated with relatively greater impairment of executive function and relatively preserved episodic memory raise the question of whether there is a distinctive neuropsychological profile of impairment associated with IVD and whether this might be useful in clinical diagnosis. However, prior reports are almost all based on clinically

Bruce R. Reed; Dan M. Mungas; Joel H. Kramer; Brian P. Betz; William Ellis; Harry V. Vinters; Chris Zarow; William J. Jagust; Helena C. Chui



Clinical Trajectories and Biological Features of Primary Progressive Aphasia (PPA)  

Microsoft Academic Search

Primary Progressive Aphasia (PPA) is a neurodegenerative syndrome characterized by a gradual dissolution of language, but relative sparing of other cognitive domains during the initial stages of the disease. Research has led to sub- stantial progress in understanding the clinical characteristics, genetics, and neuropathology of this syndrome. This article reviews the clinical criteria for diagnosing PPA, discusses the utility of

E. J. Rogalski; M. M. Mesulam



Clinical features, pathogenesis and treatment of juvenile and adult dermatomyositis  

Microsoft Academic Search

Juvenile and adult dermatomyositis (DM) have multiple commonalities, yet display differing prevalence of features, outcomes and comorbidities. In general, compared with the disease in adults, children with DM have more vasculopathy and a greater likelihood of calcinosis, periungual and gingival telangiectasias, and ulceration, but have a better long-term prognosis with improved survival. Adults with DM are more likely to have

Angela B. Robinson; Ann M. Reed



Atypical depression among psychiatric inpatients: clinical features and personality traits  

Microsoft Academic Search

Objective: This study investigates the frequency and characteristics of Atypical Depression (AD) among depressed inpatients. Method: Twenty-one depressed inpatients received DSM-IV diagnoses, were rated on the Hamilton Depression Rating Scale (HAMD), and assessed for AD using the Atypical Depressive Disorder Scale. AD was defined as the presence of mood reactivity and two of four associated features: hyperphagia, hypersomnia, leaden paralysis,

Celeste N. Derecho; Scott Wetzler; Lata K. McGinn; William C. Sanderson; Gregory M. Asnis



Evaluations of a sacred place: Role and religious belief at the Magh Mela  

Microsoft Academic Search

People perceive places differently because of the different material, social, and symbolic aspects of the locations and because individuals have different backgrounds and different reasons for being at the locations. Two studies examined how role and religious beliefs affect perceptions of the environment at the Magh Mela, an annual religious festival at the confluence of the Ganges and Yamuna Rivers

R. Barry Ruback; Janak Pandey; Neena Kohli



Geomorphological characteristics of the interior layered deposits (ILDs) of Melas Chasma, central Valles Marineris, Mars  

NASA Astrophysics Data System (ADS)

Stretching almost 600 km in width, Melas Chasma is located in the central part of the Valles Marineris (VM) and is one of the lowest lying of the chasmata. Spectral mapping of this chasma, particularly using MEX's OMEGA instrument, has revealed a strong presence of water-altered minerals (roughly a quarter of all such detected minerals to date in the VM; Chojnacki & Hynek, 2008), in the form of monohydrated and polyhydrated sulphates. Most of the sulphate-bearing rocks in Melas are found in association with thinly layered deposits, occurring in outcrops on the chasma floor. So-called interior layered deposits (ILDs) throughout the Valles Marineris have been the subject of considerable recent research, particularly for their association with these water-altered minerals. Better understanding of the origin and evolution of these ILDs may help to shed more light on the past climatic conditions on Mars and the potentially complicated history of liquid water on the planet. Relatively little geomorphological study of the ILDs of Melas Chasma has been conducted to date with regard to the differing characteristics of the different sulphate-bearing rocks. For instance, areas corresponding to polyhydrated sulphates in the Melas ILDs show considerable different surface textures to those corresponding to monohydrated sulphates. Interestingly, the latter show some surface textures comparable to the wind eroded, yardang bearing surfaces of the Medusae Fossae Formation, located roughly 4000 km to the west on the opposite side of the Tharsis volcanic province. This aim of this work, conducted as part of the European Research Council supported eMars project, is to compile a thorough geomorphological survey of the Melas Chasma ILDs and, through this, construct workable hypotheses regarding their origin and evolution and the context of their water-altered mineral content. Furthermore, to contrast and compare the ILDs of Melas with other large-scale deposits, such as the Medusae Fossae Formation and to collate evidence to support Melas Chasma's potential as a suitable landing site for any future martian rover/lander missions.

Harrison, Samantha; Quantin-Nataf, Cathy



Clinical features of asthma patients with a low %FVC. In relation to clinical asthma type and disease severity  

Microsoft Academic Search

Clinical features of asthma patients with a low %FVC «75%) were studied in relation to clinical asthma type and disease severity. 1. The value of %FVC was not related to patient age. 2. A significant association between %FVC value and clinical asthma type was found. The value of %FVC was significantly lower in subjects with type IT asthma (bronchiolar obstruction)

Fumihiro Mitsunobu; Takashi Mifune; Yasuhiro Hasaki; Kouzou Ashida; Satoshi Yokota; Hirofumi Tsugeno; Kazuaki Takeuchi; Yuichiro Nawa; Yoshiro Tanizaki; Koji Ochi; Hideo Harada


Turner syndrome and female sex chromosome aberrations: deduction of the principal factors involved in the development of clinical features  

Microsoft Academic Search

Although clinical features in Turner syndrome have been well defined, underlying genetic factors have not been clarified. To deduce the factors leading to the development of clinical features, we took the following four steps: (1) assessment of clinical features in classic 45,X Turner syndrome; (2) review of clinical features in various female sex chromosome aberrations (karyotype-phenotype correlations); (3) assessment of

Tsutomu Ogata; Nobutake Matsuo



Clinical Features of Acute Allergic Reactions to Peanut and Tree Nuts in Children  

Microsoft Academic Search

Background. Peanut (PN) and tree nut (TN) allergies are potentially life-threatening, rarely out- grown, and appear to be increasing in prevalence. How- ever, there is relatively little reported about the clinical features of acute reactions to these foods and their po- tential association. Objective. To describe the clinical features of acute reactions during initial and subsequent accidental inges- tions of

Scott H. Sicherer; A. Wesley Burks; Hugh A. Sampson


Clinical and Electroencephalographic Features of Infantile Spasms Associated with Malformations of Cortical Development  

Microsoft Academic Search

The aim of this study was to reveal the clinical and encephalographic (EEG) features of infantile spasms (IS) with malformations of cortical development (MCDs). The clinical features, EEG findings, neuroimaging studies and outcomes of various therapeutic modalities for 27 patients with IS and MCDs were reviewed. Background activities of EEG on the MCDs, i.e. asymmetric hypsarrhythmia, localized persistent polymorphic slowing,

Hoon Chul Kang; Yong Soon Hwang; Jung Chae Park; Woo Ho Cho; Soung Hee Kim; Heung Dong Kim; Sang Keun Park



Selecting critical clinical features for heart diseases diagnosis with a real-coded genetic algorithm  

Microsoft Academic Search

In clinic, normally a lot of diagnostic features are recorded from a patient for a certain disease. It will be beneficial for the prompt and correct diagnosis of the disease by selecting the important and relevant features and discarding those irrelevant and redundant ones. In this paper, a real-coded genetic algorithm (GA)-based system is proposed to select the critical clinical

Hongmei Yan; Jun Zheng; Yingtao Jiang; Chenglin Peng; Shouzhong Xiao



Early-Onset Psychoses: Comparison of Clinical Features and Adult Outcome in 3 Diagnostic Groups  

ERIC Educational Resources Information Center

|A comparison of clinical features and adult outcome in adolescents with three types of psychotic disorders: schizophrenic (SPh), schizoaffective (SA) and bipolar with psychotic features (BPP). Subjects (n = 41) were finally diagnosed (DSM-IV criteria) with SPh (n = 17), SA (n = 11) or BPP (n = 13). Clinical evaluation took place at onset and at a…

Ledda, Maria Giuseppina; Fratta, Anna Lisa; Pintor, Manuela; Zuddas, Alessandro; Cianchetti, Carlo



Autoimmune Hepatitis in Children, Clinical Features and Biochemical of Iranian Children  

Microsoft Academic Search

Background There are only a very small number of reports which discuss subtype, sex distribution, clinical features and laboratory characteristics of autoimmune hepatitis in children. The aim of this study was both to define the clinical features, biochemical and histological findings and also to determine the age and sex related distribution of autoimmune hepatitis (AIH). Materials and Methods Data of

Mehri Najafi; Hamid Reza Kianifar; Seyed Mohammad; Mehdi Mir-Nasseri; Ahmad Khodadad


Clinical Trajectories and Biological Features of Primary Progressive Aphasia (PPA)  

PubMed Central

Primary Progressive Aphasia (PPA) is a neurodegenerative syndrome characterized by a gradual dissolution of language, but relative sparing of other cognitive domains during the initial stages of the disease. Research has led to substantial progress in understanding the clinical characteristics, genetics, and neuropathology of this syndrome. This article reviews the clinical criteria for diagnosing PPA, discusses the utility of defining the mild cognitive impairment (MCI) stage of PPA, and highlights some of the more recent research advances particularly in the area of pathology and genetics.

Rogalski, E.J.; Mesulam, M.M.



Clinical trajectories and biological features of primary progressive aphasia (PPA).  


Primary Progressive Aphasia (PPA) is a neurodegenerative syndrome characterized by a gradual dissolution of language, but relative sparing of other cognitive domains during the initial stages of the disease. Research has led to substantial progress in understanding the clinical characteristics, genetics, and neuropathology of this syndrome. This article reviews the clinical criteria for diagnosing PPA, discusses the utility of defining the mild cognitive impairment (MCI) stage of PPA, and highlights some of the more recent research advances particularly in the area of pathology and genetics. PMID:19689231

Rogalski, E J; Mesulam, M M



[The features of the clinical course of modern infective endocarditis].  


The article considers the peculiarities of the development and clinical course of contemporary infective endocarditis (IE). The prevalence of various infective pathogens causing IE over the last decades is analyzed. Modern concepts of the pathogenesis of the disease are covered. The rate of IE complication is analyzed. PMID:17294874

Nikolaevski?, E N; Avram, G Kh; Soldatenko, M V



Adult onset still's disease: Clinical features and course  

Microsoft Academic Search

Summary  Fiftieen patients with adult onset Still's disease are described, all diagnosed according to recognized criteria. Mean delay in reaching a firm diagnosis was 16 months. Besides the typical clinical picture, there was a high frequency of pruriginous rash, one instance of overlapping polymyositis and recurrent systemic manifeistations in most cases. Chronic polyarticular involvement predominated, with radiological progression particularly in wrist,

D. M. Sánchez Loria; M. J. Moreno Alvarez; J. A. Maldonado Cocco; E. J. Scheines; O. D. Messina



Spinal dural arteriovenous fistulas: clinical features in 80 patients  

Microsoft Academic Search

The aim of this study was to describe the clinical spectrum of spinal dural arteriovenous fistulas (SDAF) in a large group of patients. We studied the records of 80 patients who were diagnosed with an SDAF in six hospitals over a 15 year period (1985–2001). We extracted data on demographic variables, initial symptoms, symptoms at the time of diagnosis, level

K Jellema; L R Canta; C C Tijssen; W J van Rooij; P J Koudstaal; J van Gijn



Myocardial infarction in young adults: Risk factors and clinical features  

Microsoft Academic Search

To define the risk factors and clinical presentation of patients under age 40 who present to the emergency department (ED) of a community hospital with an acute myocardial infarction (MI), a retrospective cross-sectional study was conducted over a 7-year period. Two hundred and nine consecutive cases of initial MI who met World Health Organization criteria (chest pain, ECG changes, and

Mark G. Kanitz; Sam J. Giovannucci; Jeffrey S. Jones; Michael Mott



Pine nut allergy: clinical features and major allergens characterization  

Technology Transfer Automated Retrieval System (TEKTRAN)

Pine nuts, the seeds of pine trees, are widely used for human consumption in Europe, America, and Asia. The aims of this study were to evaluate IgE-mediated hypersensitivity to pine nut in a large number of patients with details of clinical reactions, and to characterize major pine nut allergens. Th...


Clinical, biochemical and genetic features of glycogen debranching enzyme deficiency  

PubMed Central

Summary Deficiency of debrancher enzyme causes Glycogen Storage Disease (GSD) type III, an autosomal recessive disorder, characterized by tissue accumulation of abnormally structured glycogen. This report reviews current clinical and molecular knowledge about this disorder and describes the variability at phenotype and genotype levels of a large group of Italian GSDIII patients.

Lucchiari, S; Santoro, D; Pagliarani, S; Comi, GP



Clinical features and multidisciplinary approaches to dementia care  

PubMed Central

Dementia is a clinical syndrome of widespread progressive deterioration of cognitive abilities and normal daily functioning. These cognitive and behavioral impairments pose considerable challenges to individuals with dementia, along with their family members and caregivers. Four primary dementia classifications have been defined according to clinical and research criteria: 1) Alzheimer’s disease; 2) vascular dementias; 3) frontotemporal dementias; and 4) dementia with Lewy bodies/Parkinson’s disease dementia. The cumulative efforts of multidisciplinary healthcare teams have advanced our understanding of dementia beyond basic descriptions, towards a more complete elucidation of risk factors, clinical symptoms, and neuropathological correlates. The characterization of disease subtypes has facilitated targeted management strategies, advanced treatments, and symptomatic care for individuals affected by dementia. This review briefly summarizes the current state of knowledge and directions of dementia research and clinical practice. We provide a description of the risk factors, clinical presentation, and differential diagnosis of dementia. A summary of multidisciplinary team approaches to dementia care is outlined, including management strategies for the treatment of cognitive impairments, functional deficits, and behavioral and psychological symptoms of dementia. The needs of individuals with dementia are extensive, often requiring care beyond traditional bounds of medical practice, including pharmacologic and non-pharmacologic management interventions. Finally, advanced research on the early prodromal phase of dementia is reviewed, with a focus on change-point models, trajectories of cognitive change, and threshold models of pathological burden. Future research goals are outlined, with a call to action for social policy initiatives that promote preventive lifestyle behaviors, and healthcare programs that will support the growing number of individuals affected by dementia.

Grand, Jacob HG; Caspar, Sienna; MacDonald, Stuart WS



Dementia Pugilistica with clinical features of Alzheimer's disease  

Microsoft Academic Search

ABstrAct - A 61-year-old ex-boxer,presented,with,a three-year,history,of progressive,memory,decline. During a seven-year follow-up period, there was a continuous cognitive decline, very similar to that usual - ly observed in Alzheimer’s disease. Parkinsonian, pyramidal or cerebellar signs were conspicuously absent. Neuropathological examination,revealed,the,typical,features,of dementia,pugilistica:cavum,septi pellu- cidiwith multiple fenestrations, numerous neurofibrillary tangles in the cerebral isocortex and hippocam - pus,(and rare,senile plaques). Immunohistochemistry,disclosed,a high number,of

Renata Areza-Fegyveres; Sergio Rosemberg; Claudia Sellitto Porto; Valéria Santoro Bahia; Paulo Caramelli; Ricardo Nitrini



Hypertrophic scar in a dog: histological and clinical features.  


An adult male bullmastiff dog was treated for paraparesis and ataxia due to discospondylitis and disc herniation. At this time, the dog had a nonhealing ulcer between the pads of the left hindfoot. At re-evaluation, the dog had developed a large exophitic mass in the previously ulcerated area. Cytological examination revealed occasional spindle cells with mild atypia, and a soft tissue tumour was suspected. The mass was excised and submitted for histology. The lesion was characterized by superficial ulceration, an intermediate layer of granulation tissue and a deep portion containing vertically orientated capillaries and perpendicularly arranged fibroblasts and collagen. The histological features led to a diagnosis of hypertrophic scar. Eight weeks after surgery, the lesion recurred and was treated with an intralesional injection of methylprednisolone acetate. The lesion regressed in 10 days, but recurred after 3 months following severe self-trauma. Hypertrophic scars and keloids are two types of exuberant scarring reported in human beings, the pathogenesis of which is still unclear but seems to involve several cytokines, growth factors and inflammatory cells. The histological features identified in this case paralleled those reported in hypertrophic scars in humans. In this case, intralesional corticosteroid therapy was useful in the management of the lesion, but the severe self-trauma could have influenced the recurrence. Even if uncommon, hypertrophic scar should be included among the differential diagnoses of spindle cell tumours in dogs. PMID:21392138

Avallone, Giancarlo; Bonaldi, Martina; Caniatti, Mario; Lombardo, Rocco



Induratio penis plastica Peyronie's disease. Clinical features and etiology.  


The clinical and laboratory findings in 106 patients with Peyronie's disease as well as histopathological examinations of biopsies from the plaques were studied. The clinical symptoms and signs were in general similar to those found in previous studies, but bone marrow smears showed an increased number of plasma cells and lymphocytes in 18 of 24 examined. Biopsy of the plaque in cases of long-term symptomatology disclosed a fibrosis poor in cellular components. In patients with a short history of the disease and a tender induration, an inflammatory component of the specimens with perivascular accumulation of lymphocytes and balooning of endothelial cells in the small vessels was seen. Characteristic cells with "cross-banded" nuclei, described earlier only in Dupuytren's contracture and experimental fibrosis, was observed for the first time in Peyronie's disease. Based on these findings a combined traumatic-immunological etiology is suggested. PMID:1273527

Byström, J; Rubio, C



Clinical and Pathologic Features of Crimean-Congo Hemorrhagic Fever  

Microsoft Academic Search

This chapter describes the story of the clinical process starting from the entrance of the virus to the human body to the\\u000a death, if happens. Humans are the only known host of Crimean-Congo hemorrhagic fever virus (CCHFV) in which disease is manifested\\u000a [18]. In general, the people living in endemic areas are at risk. But some of the people have

Onder Ergonul


Relocation of specific endothelial features with the clinical specular microscope.  

PubMed Central

The selection and later relocation of specific areas of the in-vivo human corneal endothelium at relatively high magnification with a clinical specular microscope are demonstrated by case examples. Relocation of an area of the endothelium is greatly facilitated by the large field of view, the reduction of eye movement, and the presence of posterior corneal rings, induced by applanation of the cornea, which serve as a target system. Images

Sherrard, E. S.; Buckley, R. J.



Scabies with clinical features and positive darier sign mimicking mastocytosis.  


Scabies is a common human parasitic infection in infants and children. But diagnosis pitfalls are frequent in infants, in whom the clinical presentation is usually atypical and different from adults. We report a misleading case of a 5-month-old child, who presented with pruritic brown-red macules of the trunk showing a positive Darier's sign, suggestive of an urticaria pigmentosa. PMID:19706114

Phan, Alice; Dalle, Stéphane; Balme, Brigitte; Thomas, Luc


Kawasaki disease: part I. Diagnosis, clinical features, and pathogenesis.  


Kawasaki disease, or mucocutaneous lymph node syndrome, most commonly affects children between 6 months and 5 years of age. Approximately 90% of patients have mucocutaneous manifestations. This article will focus on the epidemiology of Kawasaki disease in the United States as it relates to other countries, the diagnosis of Kawasaki disease, its clinical course, and the currently accepted theories of pathogenesis. A particular focus is given to the various dermatologic manifestations that may occur. PMID:24034379

Bayers, Stephanie; Shulman, Stanford T; Paller, Amy S



Differential Diagnosis, Clinical Features, and Prognosis of Multiple Sclerosis  

Microsoft Academic Search

The diagnosis and prognosis of multiple sclerosis (MS) has changed dramatically over the years from the first descriptions\\u000a from St. Lidwina of Schiedam (1380–1433) and Augustus D’Este (grandson of George III) between 1822 and 1848 to the pathological\\u000a descriptions of Cruveilhier (1829–1842) and Carswell (1838). Serious study and synthesis of clinical and pathological human\\u000a MS began with the work of

Michael J. Olek


[Changed etiopathogenic and clinical features of infective endocarditis].  


The authors report their experience on etiological and clinical aspects of infective endocarditis (IE). A series of 182 consecutive patients, including 83 cases of medical IE, 73 cases of IE in intravenous drug abusers (DA), 22 cases of IE on late prosthetic valves and 4 cases of IE on early prosthetic valves were evaluated since 1976. Medical IE occurred frequently in the elderly patients and in most of the cases (80%) involved natural valves with underlying abnormalities, either rheumatic (42%) or degenerative (33%) or malphormative (25%). Pre-existing valvular pathology was not needed for IE in DA, occurring in 13%, mainly due to a previous IE. In most of the cases IE in DA was a staphylococcal IE (80%) and a right-sided IE (77%). Streptococci were frequent agent both in medical and late prosthetic valves IE (55%): however, a wide pattern of microorganisms, including "unusual" pathogens like nutritionally variant Streptococci, Haemophylus parainfluenzae, Haemophylus paraphrophylus, Coxiella burnetii and the so-called "non pathogen microorganisms" (e.g. Neisseria sicca) was identified as etiological agent. As regards the clinical approach and diagnosis, the Authors underline some atypical clinical presentations of IE: the pulmonary presentation, occurring in right-sided IE, mainly in DA; the neurological presentation, suggesting staphylococcal etiology and left-sided IE; the vasculitis presentation, miming connective tissue diseases; the cardiac presentation, observed in aortic localization (1 case). One or more severe complications occurred in 65% of the patients, contributing to adverse outcomes.(ABSTRACT TRUNCATED AT 250 WORDS) PMID:7634278

Altucci, P; Abbate, G F; Ciaramella, F; Gallo, C; Iacono, A; Giannini, V; Visco, G



Spontaneous Primary Intraventricular Hemorrhage: Clinical Features and Early Outcome  

PubMed Central

Purpose. Primary hemorrhage in the ventricular system without a recognizable parenchymal component is very rare. This single-center retrospective study aimed to further characterize the clinical characteristics and early outcome of this stroke subtype. Methods. All patients with primary intraventricular hemorrhage included in a prospective hospital-based stroke registry over a 19-year period were assessed. A standardized protocol with 161 items, including demographics, risk factors, clinical data, neuroimaging findings, and outcome, was used for data collection. A comparison was made between the groups of primary intraventricular hemorrhage and subcortical intracerebral hemorrhage. Predictors of primary intraventricular hemorrhage were identified by logistic regression analysis. Results. There were 12 patients with primary intraventricular hemorrhage (0.31% of all cases of stroke included in the database) and 133 in the cohort of subcortical hemorrhage. Very old age (?85 years) (odds ratio (OR) 9.89), atrial fibrillation (OR 8.92), headache (OR 6.89), and altered consciousness (OR 4.36) were independent predictors of intraventricular hemorrhage. The overall in-hospital mortality rate was 41.7% (5/12) but increased to 60% (3/5) in patients aged 85 years or older. Conclusion. Although primary intraventricular hemorrhage is uncommon, it is a severe clinical condition with a high early mortality. The prognosis is particularly poor in very old patients.

Arboix, Adria; Garcia-Eroles, Luis; Vicens, Adela; Oliveres, Montserrat; Massons, Joan



Spontaneous primary intraventricular hemorrhage: clinical features and early outcome.  


Purpose. Primary hemorrhage in the ventricular system without a recognizable parenchymal component is very rare. This single-center retrospective study aimed to further characterize the clinical characteristics and early outcome of this stroke subtype. Methods. All patients with primary intraventricular hemorrhage included in a prospective hospital-based stroke registry over a 19-year period were assessed. A standardized protocol with 161 items, including demographics, risk factors, clinical data, neuroimaging findings, and outcome, was used for data collection. A comparison was made between the groups of primary intraventricular hemorrhage and subcortical intracerebral hemorrhage. Predictors of primary intraventricular hemorrhage were identified by logistic regression analysis. Results. There were 12 patients with primary intraventricular hemorrhage (0.31% of all cases of stroke included in the database) and 133 in the cohort of subcortical hemorrhage. Very old age (?85 years) (odds ratio (OR) 9.89), atrial fibrillation (OR 8.92), headache (OR 6.89), and altered consciousness (OR 4.36) were independent predictors of intraventricular hemorrhage. The overall in-hospital mortality rate was 41.7% (5/12) but increased to 60% (3/5) in patients aged 85 years or older. Conclusion. Although primary intraventricular hemorrhage is uncommon, it is a severe clinical condition with a high early mortality. The prognosis is particularly poor in very old patients. PMID:22966468

Arboix, Adrià; García-Eroles, Luis; Vicens, Adela; Oliveres, Montserrat; Massons, Joan



Neurological distress in Togolese newborn: Prevalence, causes and clinical features  

PubMed Central

Background: The transition from fetal to neonatal life during birth is difficult for all babies. We aim to analyze the demography, clinical presentation, causes, and outcome of neurologically distressed newborns. Materials and Methods: We reviewed a total of 615 newborns files admitted with life threatening condition. Amongst them, 453 had presented neurological distress syndrome. Only cases with severe neurological impairment (Apgar Score System [ASS] ?6) with no other associated injury were included in the study group. The study covered a period from January to December 2011 and located in pediatric intensive care unit. The information regarding clinical presentation, condition of birth, causes of distress, and outcome were analyzed. Neonate examination had been conducted by neonatologist and pediatric neurologist. Results: The sample included 272/453 (60.04%) males and 181/453 (39.96%) females. Newborns were aged from 1 to 14 days. The incidence of neurological distress amongst all admissions was 453/615 (73.65%). Clinical signs were weakness of primary reflexes (86.70%), non reactivity (78.19%), flaccid muscle tone (59.49%) and impaired consciousness (32.29%). On Apgar score, 73 (20.68%) had a score from 0 to 3; 234 (66.29%) had a score 4–6 in the first minute of life. A total of 307 (86.97%) newborns had been resuscitated at birth during the first five minutes. Death rate was 35.69%. Asphyxia (51.27%) and neonatal infection (43.34%) were the most common causes of death. Conclusion: These results show that much effort remains to be done in obstetric care, resuscitation management and improvement in neonatal infection care.

Bahoura, Balaka; Komi, Assogba; Paul, M. Ossou-Nguiet; Kossivi, Apetse; Magnoudewa, Kapitan-Gnimdu



Depression in the Elderly: Clinical Features and Risk Factors  

PubMed Central

Depression in elderlies is not known quite well and thus cannot be treated adequately. The fact that elderliness is accepted as a property of depressive symptoms both by the relatives of the patients and doctors is one of the factors which make it difficult to recognize depression. Existence of multiple physical diseases in elderlies, use of multiple medicines, occurrence of pharmacokinetic and pharmacodynamics changes depending on the age necessitate to take several factors into account while diagnosing and using medicines. In this study, clinical properties and risk factors of depression in old age period was reviewed and the properties of such depressions were summarized.

Sozeri-Varma, Gulfizar



[Clinical and morphological features of breast cancer in men].  


Breast cancer in men is 100 times less common than in women. The main risk factors include: the mutation of genes BRCA 1 and 2, Klinefelter's syndrome, alcohol, liver disease, obesity. Clinical examinations, mammography and ultrasound are informative and highly sensitive for early detection of these tumors, but are rarely implemented due to lack of awareness of general practitioners. Local treatment includes the Patey-Dyson mastectomy and radiation therapy. Adjuvant systemic therapy is determined by pTNM and typically involves tamoxifen. PMID:23909038

Nikolaev, K S



Clinical features of spinal and bulbar muscular atrophy  

PubMed Central

Spinal and bulbar muscular atrophy is an X-linked motor neuron disease caused by a CAG repeat expansion in the androgen receptor gene. To characterize the natural history and define outcome measures for clinical trials, we assessed the clinical history, laboratory findings and muscle strength and function in 57 patients with genetically confirmed disease. We also administered self-assessment questionnaires for activities of daily living, quality of life and erectile function. We found an average delay of over 5 years from onset of weakness to diagnosis. Muscle strength and function correlated directly with serum testosterone levels and inversely with CAG repeat length, age and duration of weakness. Motor unit number estimation was decreased by about half compared to healthy controls. Sensory nerve action potentials were reduced in nearly all subjects. Quantitative muscle assessment and timed 2 min walk may be useful as meaningful indicators of disease status. The direct correlation of testosterone levels with muscle strength indicates that androgens may have a positive effect on muscle function in spinal and bulbar muscular atrophy patients, in addition to the toxic effects described in animal models.

Rhodes, Lindsay E.; Freeman, Brandi K.; Auh, Sungyoung; Kokkinis, Angela D.; La Pean, Alison; Chen, Cheunju; Lehky, Tanya J.; Shrader, Joseph A.; Levy, Ellen W.; Harris-Love, Michael; Di Prospero, Nicholas A.



Clinical features and management of primary biliary cirrhosis  

PubMed Central

Primary biliary cirrhosis (PBC), which is characterized by progressive destruction of intrahepatic bile ducts, is not a rare disease since both prevalence and incidence are increasing during the last years mainly due to the improvement of case finding strategies. The prognosis of the disease has improved due to both the recognition of earlier and indolent cases, and to the wide use of ursodeoxycholic acid (UDCA). New indicators of prognosis are available that will be useful especially for the growing number of patients with less severe disease. Most patients are asymptomatic at presentation. Pruritus may represent the most distressing symptom and, when UDCA is ineffective, cholestyramine represents the mainstay of treatment. Complications of long-standing cholestasis may be clinically relevant only in very advanced stages. Available data on the effects of UDCA on clinically relevant end points clearly indicate that the drug is able to slow but not to halt the progression of the disease while, in advanced stages, the only therapeutic option remains liver transplantation.

Crosignani, Andrea; Battezzati, Pier Maria; Invernizzi, Pietro; Selmi, Carlo; Prina, Elena; Podda, Mauro



Otomycosis in Shanghai: aetiology, clinical features and therapy.  


Otomycosis is frequently seen in Shanghai and is a challenging problem due to recurrence and resistance to therapy. The aims of this study were to determine the pattern of fungal agents, sex distribution, clinical presentation, predisposing factors, complications and treatment outcomes of otomycosis. Retrospective review of 108 patients with a clinical diagnosis of otomycosis treated from September 2009 to September 2010 in otolaryngology outpatient department. It has been found to be more prevalent in female patients than male patients with a sex ratio (F : M) of 2 : 1. Aspergillus niger (54.78%) followed by Candida albicans (16.52%) were the dominant fungi. Pruritus and otorrhea were the most common presenting complaints. The predisposing factors included frequent scratching of the external ear canal (79.63%), taking ototopical and/or oral antimicrobials (24.07%), diabetes (11.11%) and otologic procedures (7.41%). Residual disease was observed in 9.26% and recurrence in 8.89% of the subjects. Topical Fluconazole ear drops and mechanical debridement of visible fungal elements in the external auditory canal were all relatively effective with 83.33% resolution rate on initial application. The diagnosis of otomycosis requires vigilance from clinicians given its non-specific symptoms. Sometimes mycological examinations are necessary. Treatment regimens such as topical fluconazole coupled with mechanical debridement are generally effective. However, recurrence is not uncommon and eradication of disease can be particularly difficult in patients with diabetes and a mastoid cavity. PMID:21999222

Jia, Xianhao; Liang, Qin; Chi, Fanglu; Cao, Wenjun



Galactosemia: clinical features, diagnosis and management. A case report.  


The case report and discussion presented here were prepared in response to legislation in Louisiana which requires that the Dept of Health and Hospitals establish a program to inform physicians and hospitals of the current medical standards for the diagnosis, clinical management, and recognition of galactosemia. Classical galactosemia is an inborn error of galactose metabolism caused by a deficiency of galactose-1-phosphate uridryl transferase. It is inherited as an autosomal recessive trait and its estimated occurrence is 1/60,000. The presenting symptoms which include vomiting, diarrhea, jaundice, and failure to thrive result from the ingestion of foods containing galactose--breast milk and formulas containing cow's milk. Although some states routinely screen all newborns for galactosemia, the results of the newborn screening are often not available before the infant presents with symptoms. Early recognition and immediate withdrawal of galactose from the diet can prevent serious morbidity and mortality. There is significant clinical variability and not all infants present with typical acute manifestations of the disease. PMID:7642981

Lewis, V; Welch, F; Cherry, F; Flood, E; Marble, M



Frontotemporal dementia (Pick's disease): clinical features and assessment.  


The clinical presentation in frontotemporal dementia (FTD) reflects the distribution of the pathologic changes rather than the exact histologic subtype of the disease. Three major clinical syndromes can be identified: 1) frontal variant FTD (dementia of frontal type) in which changes in social behavior and personality predominate, reflecting the orbitobasal frontal lobe focus of the pathology. Traditional cognitive tests are insensitive, but more specific measures are under development; 2) semantic dementia (progressive fluent aphasia) in which there is a breakdown in the conceptual database which underlies language production and comprehension, although deficits in nonverbal semantic knowledge can also be shown on neuropsychologic testing. Patients with semantic dementia have asymmetric anterolateral temporal atrophy with relative sparing of the hippocampal formation, which is typically worse on the left side. A variant of this syndrome affecting the right temporal lobe presents with progressive prosopagnosia; 3) progressive nonfluent aphasia in which the phonologic and syntactic components of language are affected in association with left peri-Sylvian atrophy. The assessment of patients with potential FTD involves a multidisciplinary approach. The development of comprehensive caregiver-based neuropsychiatric instruments, neuropsychologic tasks sensitive to semantic memory and other key cognitive impairments, and functional (hexamethyly-propyleneamine-SPECT) and structural (MRI) brain imaging represent significant advances in the field. PMID:11402143

Hodges, J R



Hypoparathyroidism: clinical features, skeletal microstructure and parathyroid hormone replacement  

PubMed Central

Objective Hypoparathyroidism is a disorder in which parathyroid hormone is deficient in the circulation due most often to immunological destruction of the parathyroids or to their surgical removal. The objective of this work was to define the abnormalities in skeletal microstructure as well as to establish the potential efficacy of PTH(1-84) replacement in this disorder. Subjects and methods Standard histomorphometric and ?CT analyses were performed on iliac crest bone biopsies obtained from patients with hypoparathyroidism. Participants were treated with PTH(1-84) for two years. Results Bone density was increased and skeletal features reflected the low turnover state with greater BV/TV, Tb. Wi and Ct. Wi as well as suppressed MS and BFR/BS as compared to controls. With PTH(1-84), bone turnover and bone mineral density increased in the lumbar spine. Requirements for calcium and vitamin D fell while serum and urinary calcium concentrations did not change. Conclusion Abnormal microstructure of the skeleton in hypoparathyroidism reflects the absence of PTH. Replacement therapy with PTH has the potential to correct these abnormalities as well as to reduce the requirements for calcium and vitamin D.

Rubin, Mishaela R.; Bilezikian, John P.



Necrotising fasciitis: clinical features in patients with liver cirrhosis.  


Necrotising fasciitis is a fulminant and life-threatening infection. It is associated with a high mortality rate and is often seen in the aged and immunocompromised patients. Liver cirrhosis is regarded as a risk factor of necrotising fasciitis. From January 1995 to December 2003, 17 cirrhotic patients who had been admitted to our hospital for necrotising fasciitis were identified. The infection all developed in the lower extremities. Only six patients survived, and the overall case fatality rate was 64.7%. The cases were divided into two groups: survivors and nonsurvivors. Comparisons were made on age, gender, presenting symptoms, underlying medical diseases, laboratory data and clinical course. Underlying diabetes mellitus and grade C liver cirrhosis were the only statistically significant factors that led to poor prognosis (p< 0.05). PMID:15992530

Cheng, Nai-Chen; Tai, Hao-Chi; Tang, Yueh-Bih; Chang, Shan-Chwen; Wang, Jann-Tay



Clinical features, investigation and treatment of post-traumatic syringomyelia.  

PubMed Central

Thirteen patients who sustained spinal cord trauma causing persisting disability, developed new symptoms, the chief one of which was severe pain unrelieved by analgesics. The clinical diagnosis of post traumatic syringomyelia was confirmed in each case by means of myelography, as well as endomyelography in seven patients. In every case exploration of the spinal cord syrinx was performed. Ten patients were troubled by severe pain while three patients were mainly subject to altered sensation in the upper limbs. Of the six patients who had initially sustained complete cord transections, three were treated by cord transection and three were treated by syringostomy. The seven patients who sustained incomplete cord lesions were all treated by syringostomy. The patients who initially sustained incomplete sensory motor spinal cord damage had a better symptomatic response to surgery than hose who had sustained a complete spinal cord lesion. The ten patients whose main symptom was severe pain were completely relieved of their symptoms by surgery. Images

Shannon, N; Symon, L; Logue, V; Cull, D; Kang, J; Kendall, B



Anatomical features and clinical relevance of a persistent trigeminal artery  

PubMed Central

Background: Although persistent trigeminal artery (PTA) is uncommonly identified, knowledge of this structure is essential for clinicians who interpret cranial imaging, perform invasive studies of the cerebral vasculature, and operate this region. Methods: A review of the medical literature using standard search engines was performed to locate articles regarding the PTA, with special attention with anatomical descriptions. Results: Although anatomical reports of PTA anatomy are very scarce, those were analyzed to describe in detail the current knowledge about its anatomical relationships and variants. Additionally, the embryology, classification, clinical implications, and imaging modalities of this vessel are extensively discussed. Conclusions: Through a comprehensive review of isolated reports of the PTA, the clinician can better understand and treat patients with such an anatomical derailment.

Alcala-Cerra, Gabriel; Tubbs, R S; Nino-Hernandez, Lucia M



Clinical features, management and recurrence of symptomatic Rathke's cleft cyst.  


Rathke's cleft cyst (RCC) is a rare lesion of the pituitary gland that is often asymptomatic. The objective of this study was to further characterise the presenting symptoms, endocrinopathy and potential for recurrence of this lesion in an Australian population. The files of 12 patients with pathologically confirmed RCCs were reviewed retrospectively. Common presentations included headache, endocrinopathy, and visual disturbance. Uncommon presentations included 1 patient with pituitary apoplexy. The cysts varied in size from 6 mm to 20 mm; 8 had a suprasellar component. 1 patient had evidence of a RCC with xanthogranulomatous change. RCC recurrence was noted on follow-up MRI in 5 patients. In conclusion, RCCs are rare lesions that can present with an array of clinical symptoms. The relatively high rate of recurrence may indicate a link between this pathology and craniopharyngioma, although many patients with recurrent RCC do not require repeat resection and remain asymptomatic. PMID:19147363

Raper, Daniel M S; Besser, Michael



Clinical Features of Idiopathic Juxtafoveal Telangiectasis in Koreans  

PubMed Central

Purpose To describe the clinical characteristics of idiopathic juxtafoveal telangiectasis (IJT) in Koreans. Methods Medical records of 16 patients with IJT were analyzed during the period from 1997 to 2009. Diagnosis was based on biomicrosopic and fluorescein angiographic findings and the group was determined according to the Gass and Blodi classification. Results We analyzed eight patients in group 1A (50%), two in group 1B (12.5%), and six in group 2A (37.5%). Diverse treatment modalities, such as macular laser photocoagulation, photodynamic therapy, intravitreal antiangiogenic agent, and steroid injection, were applied for macular edema in nine eyes; however, only two eyes showed visual improvement. Conclusions In this case series, group 1A was the most common. For macular edema related to IJT, current treatment strategies had no consistent effect.

Lee, Seung Woo; Kim, Sung Min; Kim, Yun Taek



Clinical and histopathological features of posttraumatic iris cyst  

PubMed Central

Iris cyst excision involves complex surgical maneuvers and may have a variable visual outcome depending upon preexisting and postoperative complications. Hereby, we report a case series of 10 eyes from which posttraumatic iris cysts were excised and proven histopathologically. Histopathology records were reviewed. Data regarding patient profile, clinical profile, surgical details, treatment outcomes and follow-up were reviewed. Outcome measures were defined as recurrences, visual acuity and number of other surgeries required. Non-parametric Wilcoxon test was used to compare changes in the visual acuity and Fisher test was used to find out the significance of several risk factors. Mean age was 24.7 years (3-58 years). Mean follow- up was 2.36 years. Mean preoperative logMAR visual acuity was 0.56 in comparison to final logMAR visual acuity of 1.62. Factors related to adverse functional outcome were related to post-surgical complications.

Rishi, Ekta; Biswas, Jyotirmay; Nandi, Krishnendu



[Child asthma in Senegal: epidemiological and clinical features in hospitals].  


This report is a retrospective study carried out from records of diseased of asthma, fallowed up in a paediatric national center of reference during the period from 1st of November 1987 to 31 st of august 1993. The goal was to describe the epidemiological and clinical factors linked to that affection in order to better contribute to improve its managment. For all the diseaseds of this report we notice and analysed the socio economical data, the promoting factors the occurring mode of the disease, the main clinical manifestations of the affection and their consequences. The morbid association and the data of the paraclinical exploration particularly the functional breathing exploration. Thus we noticed that the consultation in a specialized center occurs relatively late because of bad orientation of the deseaseds. In effect the mean age of diseaseds at the first consultation is 7.5 years while the disease begins in average at 3.5 years. By elsewhere we notice that 15% of these diseaseds live in an aggressive mesologic medium. With an atopy in 78.4% of the cases, loaded personal case history in 96.6% of the cases and that the releasing factors are not known for most of them (81.9%). Asthma in our diseaseds is not very frequent (77%) in general with a moderate intensity of crises (69%). However disturbances of physical activity are noted among 23% of the sample which corresponds nearly to the number of subjects with severe respiratory obstruction (25%). We quoted that there is an relation ship between the frequency of the cases the intensity of the crisis and the disturbances of physical activities of the diseaseds (x2:25.9, df = 2, p= 0,000002). Tacking count of all these factors may serve to set up a asthma prevention and treatment project in Senegal based on populations education and care providers training. PMID:15776660

Ba, M; Camara, B; Ndiaye, O; Diagne, I; Gueye Diagne, N R; Diouf, S; Ba, A; Gueye Cissé, A; Faye, P M; Ninteretse, B; Sow, H D; Kuakuvi, N



Brain metastases from hepatocellular carcinoma: clinical features and prognostic factors  

PubMed Central

Background Brain metastases (BM) from hepatocellular carcinoma (HCC) are extremely rare and are associated with a poor prognosis. The aim of this study was to define clinical outcome and prognostic determinants in patients with BM from HCC. Methods Between January 1994 and December 2009, all patients with HCC and BM treated in Sun Yat-sen University Cancer Center were retrospectively reviewed. Univariate and multivariate survival analyses were performed to identify possible prognostic factors. Results Forty-one patients were diagnosed with BM from HCC, an incidence of 0.47%. The median age at diagnosis of BM was 48.5 years. Thirty-three patients (80.5%) developed extracranial metastases at diagnosis of BM, and 30 patients (73.2%) had hepatitis B. Intracranial hemorrhage occurred in 19 patients (46.3%). BM were treated primarily either with whole brain radiation therapy (WBRT; 5 patients), stereotactic radiosurgery (SRS; 7 patients), or surgical resection (6 patients). The cause of death was systemic disease in 17 patients and neurological disease in 23. Patients in a high RPA (recursive partitioning analysis) class, treated with conservatively and without lung metastases, tended to die from neurological disease. Median survival after the diagnosis of BM was 3 months (95% confidence interval: 2.2-3.8 months). In multivariate analysis, the presence of extracranial metastases, a low RPA class and aggressive treatment, were positively associated with improved survival. Conclusions BM from HCC is rare and associated with an extremely poor prognosis. However, patients with a low RPA class may benefit from aggressive treatment. The clinical implication of extracranial metastases in HCC patients with BM needs further assessment.



Clinical and biochemical features associated with BCS1L mutation.  


Our study describes a novel phenotype in a series of nine Saudi patients with lactic acidosis, from four consanguineous families three of which are related. Detailed genetic studies including linkage, homozygosity mapping and targeted sequencing identified a causative mutation in the BCS1L gene. All affected members of the families have an identical mutation in this gene, mutations of which are recognized causes of Björnstad syndrome, GRACILE syndrome and a syndrome of neonatal tubulopathy, encephalopathy, and liver failure (MIM 606104) leading to isolated mitochondrial respiratory chain complex III deficiency. Here we report the appearance of a novel behavioral (five patients) and psychiatric (two patients) phenotype associated with a p.Gly129Arg BCS1L mutation, differing from the phenotype in a previously reported singleton patient with this mutation. The psychiatric symptoms emanated after childhood, initially as hypomania later evolving into intermittent psychosis. Neuroradiological findings included subtle white matter abnormalities, whilst muscle histopathology and respiratory chain studies confirmed respiratory chain dysfunction. The variable neuro-psychiatric manifestations and cortical visual dysfunction are most unusual and not reported associated with other BCS1L mutations. This report emphasizes the clinical heterogeneity associated with the mutation in BCS1L gene, even within the same family and we recommend that defects in this gene should be considered in the differential diagnosis of lactic acidosis with variable involvement of different organs. PMID:22991165

Al-Owain, Mohammed; Colak, Dilek; Albakheet, Albandary; Al-Younes, Banan; Al-Humaidi, Zainab; Al-Sayed, Moeen; Al-Hindi, Hindi; Al-Sugair, Abdulaziz; Al-Muhaideb, Ahmed; Rahbeeni, Zuhair; Al-Sehli, Abdullah; Al-Fadhli, Fatima; Ozand, Pinar T; Taylor, Robert W; Kaya, Namik



Nemaline myopathy type 6: clinical and myopathological features  

PubMed Central

Introduction Nemaline myopathy (NEM) is one of the most common congenital myopathies. A unique subtype, NEM6, maps to chromosome 15q21-q23 in two pedigrees, but the causative gene has not been determined. Methods We conducted clinical examination and myopathological studies in a new NEM family. Genotyping and gene screening were accomplished by searching known and 18 new candidate genes. Results The disease started in childhood by affecting proximal and distal muscles and causing slowness of movements. Muscle biopsies show numerous nemaline rods and core-like formations. Suggestive linkage to chromosome 15q22-q23 was established. Genes known to be mutated in NEM or core-rod myopathy were screened and excluded. No pathogenic mutations were identified in other candidate genes. Discussion The disease in this Spanish family is classified as NEM6. It is phenotypically similar and probably allelic to the two previously reported NEM6 pedigrees. Further studies of these families will lead to the identification of the NEM6 gene.

Olive, Montse; Goldfarb, Lev G; Lee, Hee-Suk; Odgerel, Zagaa; Blokhin, Andre; Gonzalez-Mera, Laura; Moreno, Dolores; Laing, Nigel G; Sambuughin, Nyamkhishig



[Clinical features of solid malignant tumors in childhood].  


The pathogenesis of pediatric malignant tumors is associated with congenital abnormalities. Oncogenes and antioncogenes are identified in some of these cases. Neuroblastoma arises from the adrenal medulla and sympathetic ganglia. Most neuroblastomas produce catecholamine. Urinary vanillylmandelic acid(VMA)and homovanillic acid(HVA), metabolites of catecholamine, are sensitive tumor markers. Risk stratification according to tumor stage and a combination of prognostic factors helps determine the appropriate therapeutic strategy in clinical settings. Nephroblastoma(Wilms tumor)is the most common pediatric renal tumor and is often accompanied by congenital anomalies. Surgical resection of the tumor and the involved kidney is the initial treatment recommendation in the US and Japan. Consecutive chemotherapy and radiotherapy are administered after surgical staging and a definite histopathological diagnosis. Prognosis is relatively good for most nephroblastoma cases with a favorable histology. In addition to nephroblastoma, clear cell sarcoma of the kidney, characterized by a tendency to metastasize to the bone, is a renal tumor with poor prognosis. Rhabdoid tumor of the kidney is another tumor type; however, its pathogenesis is still unknown and it is associated with extremely poor prognosis because of the lack of effective therapeutic measures. Hepatoblastoma is the most common malignant liver tumor. The serum alpha-fetoprotein level is the most effective tumor marker. Complete surgical resection of the involved liver lobe is the definitive approach for cure. Preoperative chemotherapy increases the possibility of complete surgical resection. High-risk patients have a poor prognosis. PMID:23863721

Koshinaga, Tsugumichi; Ohashi, Kensuke; Sugitou, Kiminobu; Ikeda, Tarou



Clinical and pathologic features of oligodendrogliomas in two cats.  


Two oligodendrogliomas in two domestic cats involved mainly the rostral brain stem, midbrain, fourth ventricle, and cerebellum. Both cats were aged neutered males presenting with clinical neurologic deficits suggestive of a brain stem lesion. Magnetic resonance imaging of both tumors demonstrated lesions with a pattern of heterogeneous contrast enhancement and multifocal lesions in one cat. Routine cerebrospinal fluid analysis was normal in one cat and suggestive of an inflammatory disease in the other. Oligodendroglioma cells were seen in cytospin preparations of cerebrospinal fluid from both cats. In each cat, the tumors occurred intraventricularly in the midbrain and fourth ventricle with aggressive intraparenchymal infiltration. There was extensive growth into the basilar subarachnoid space of the midbrain and brain stem in one cat. One tumor was well differentiated, and the other was an anaplastic subtype. Immunostaining for several myelin- and oligodendroglia-specific antigens was negative with formalin-fixed tumors and with unfixed frozen samples from one cat. In both tumors, component cells of the intratumoral vascular proliferations were positive for human von Willebrand factor VIII antigen or smooth muscle actin. Immunocytochemical reactivity for glial fibrillary acidic protein identified both reactive astrocytes and a subpopulation of minigemistocytes in both tumors. Ultrastructurally, the tumor cells were unremarkable except for their prominent desmosomal junctions and paucity of microtubules. PMID:10714645

Dickinson, P J; Keel, M K; Higgins, R J; Koblik, P D; LeCouteur, R A; Naydan, D K; Bollen, A W; Vernau, W



Metabolic brain imaging correlated with clinical features of brain tumors  

SciTech Connect

Nineteen adults with brain tumors have been studied with positron emission tomography utilizing FDG. Fourteen had biopsy proven cerebral malignant glioma, one each had meningioma, hemangiopericytoma, primitive neuroectodermal tumor (PNET), two had unbiopsied lesions, and one patient had an area of biopsy proven radiation necrosis. Three different patterns of glucose metabolism are observed: marked increase in metabolism at the site of the known tumor in (10 high grade gliomas and the PNET), lower than normal metabolism at the tumor (in 1 grade II glioma, 3 grade III gliomas, 2 unbiopsied low density nonenhancing lesions, and the meningioma), no abnormality (1 enhancing glioma, the hemangiopericytoma and the radiation necrosis.) The metabolic rate of the tumor or the surrounding brain did not appear to be correlated with the history of previous irradiation or chemotherapy. Decreased metabolism was frequently observed in the rest of the affected hemisphere and in the contralateral cerebellum. Tumors of high grade or with enhancing CT characteristics were more likely to show increased metabolism. Among the patients with proven gliomas, survival after PETT scan tended to be longer for those with low metabolic activity tumors than for those with highly active tumors. The authors conclude that PETT may help to predict the malignant potential of tumors, and may add useful clinical information to the CT scan.

Alavi, J.; Alavi, A.; Dann, R.; Kushner, M.; Chawluk, J.; Powlis, W.; Reivich, M.



Cellular focal segmental glomerulosclerosis: Clinical and pathologic features.  


Five pathologic variants of idiopathic focal segmental glomerulosclerosis (FSGS) are recognized: collapsing (COLL), cellular (CELL), glomerular tip lesion (GTL), perihilar, and not otherwise specified (NOS). The prognostic significance of CELL FSGS has not been determined. We compared the presenting clinical and pathologic characteristics in 225 patients with CELL (N=22), COLL (N=56), GTL (N=60), and NOS (N=87) variants of idiopathic FSGS. CELL, COLL, and tip lesion all showed greater frequency and severity of nephrotic syndrome, and shorter time to biopsy compared to NOS. Predictors of end-stage renal disease (ESRD) for all FSGS patients included initial serum creatinine, % global sclerosis, % COLL lesions, chronic tubulo-interstitial injury score, and lack of remission response. COLL FSGS had the highest rate of renal insufficiency at presentation, most extensive glomerular involvement and chronic tubulo-interstitial disease, fewest remissions (13.2%), and highest rate of ESRD (65.3%). GTL patients were older and showed the highest remission rate (75.8%) and lowest rate of ESRD (5.7%). CELL variant showed intermediate rates of remission (44.5%) and ESRD (27.8%) compared to COLL and tip lesion. CELL variant may include cases of unsampled tip or COLL lesion, underscoring the importance of adequate sampling. Our data support the view that CELL and COLL FSGS are not equivalent and validates an approach to pathologic classification that distinguishes between COLL, CELL, and tip lesion variants of FSGS. PMID:17021605

Stokes, M B; Valeri, A M; Markowitz, G S; D'Agati, V D



Low natural killer syndrome: clinical and immunologic features.  


Twenty-three patients with low natural killer syndrome (LNKS), 7 males and 16 females, are reported here. These LNKS patients had an age range from 14 to 77 years, with a median of 36.5 years. LNKS is a newly proposed category of immune disorders, being characteristically diagnosed by lowered NK cell activity against K562 target cells as a definite laboratory abnormality, in association with general clinical symptoms of remittent fever and uncomfortable fatigue, persisting without explanation for more than 6 months. Other immune parameters, such as the DNA synthesis of peripheral blood mononuclear cells (PBMCs) in either the presence or absence of mitogens, the T4+/T8+ ratio and the number of Leu-11+ PBMCs, were usually within the normal range. Also, routine laboratory tests did not detect any abnormal findings. The LNKS patients responded well to the administration of an immunopotentiator called 'lentinan', a glucan extracted from the Japanese mushroom Lentinus edodes, despite no responses to conventional fever treatments such as the administration of antipyretics or antibiotics. All LNKS patients observed were universally free of antibodies in their sera to human T-lymphotropic retroviruses I and III, and lymphadenopathy was infrequent, indicating that the LNKS is a syndrome independent of acquired immunodeficiency syndrome (AIDS) or AIDS-related complex. Antibodies to other known viruses tested such as Epstein-Barr or measles virus, or cytomegalovirus were also negative or not significantly elevated in the sera before the initiation of lentinan administration. If a virus is the cause of LNKS, it may be a new, unknown virus or an unknown substrain of known viruses. None of the LNKS patients has died of this syndrome. PMID:2442602

Aoki, T; Usuda, Y; Miyakoshi, H; Tamura, K; Herberman, R B



Human immunodeficiency virus–related lymphoma: relation between clinical features and histologic subtypes  

Microsoft Academic Search

PurposeNon-Hodgkin’s lymphoma occurs frequently in patients with human immunodeficiency virus (HIV) infection and acquired immunodeficiency syndrome (AIDS). We determined the association between the clinical and histologic features of HIV-related lymphoma.

Jean Gabarre; Martine Raphael; Eric Lepage; Antoine Martin; Eric Oksenhendler; Luc Xerri; Micheline Tulliez; Josée Audouin; Régis Costello; Jean Baptiste Golfier; Daniel Schlaifer; Olivier Hequet; Nabih Azar; Christine Katlama; Christian Gisselbrecht



Clinical Features of Liver Involvement in Adult Patients with Listeriosis. Review of the Literature  

Microsoft Academic Search

Clinical features of liver involvement due to Listeria monocytogenes infection in adults are rarely reported in literature. This is surprizing, regarding the current opinion that the portal\\u000a system is extensively involved in the first stages of pathogenesis in invasive L. monocytogenes disease. A literature search in the PubMed and Embase database revealed 34 cases with clinical features of hepatic involvement

M. Scholing; P. M. Schneeberger; P. van den Dries; J. P. H. Drenth



Infection of Cerebrospinal Fluid Shunts: Causative Pathogens, Clinical Features, and Outcomes  

Microsoft Academic Search

SUMMARY: This retrospective chart review describes the clinical features, pathogens, and outcomes of 46 patients with cerebrospinal fluid (CSF) shunt infections collected over 16 years. The overall CSF shunt infection rate was 2.1%, broken down into 1.7 and 9.3% in adult and pediatric groups, respectively. Fever and progressive consciousness disturbance were the most prominent clinical features in the adult patient

Kuo-Wei Wang; Wen-Neng Chang; Teng-Yuan Shih; Chi-Ren Huang; Nai-Wen Tsai; Chen-Sheng Chang; Yao-Chung Chuang; Po-Chou Liliang; Thung-Ming Su; Cheng-Shyuan Rau; Yu-Duan Tsai; Ben-Chung Cheng; Pi-Lien Hung; Chin-Jung Chang; Cheng-Hsien Lu


Down's syndrome and acute lymphoblastic leukaemia: clinical features and response to treatment  

Microsoft Academic Search

AIMSTo examine the clinical and biological features of acute lymphoblastic leukaemia in children with Down's syndrome (DS), to compare their survival with other children, and to determine if entry to trials and survival has improved.METHODSExamination of presenting features and response to treatment in patients treated in two consecutive national trials, MRC UKALL X and XI.RESULTSThe proportion of children with DS

J M Chessells; G Harrison; S M Richards; C C Bailey; F G H Hill; B E Gibson; I M Hann



Territoriality at the Magh MelaThe Effects of Organizational Factors and Intruder Characteristics  

Microsoft Academic Search

The Magh Mela, an annual Hindu festival held at the confluence of the Ganges and Yamuna rivers, attracts about 150,000 pilgrims who stay for a month in campsites maintained by religious organizations. This study examined territoriality at the campsites in terms of (a) observed characteristics—including personalizations (e.g., flags, banners) and barriers (e.g., fences, gates)—and (b) behavioral responses to an experimental

R. Barry Ruback; Neena Kohli



Grammatical Evolution for Features of Epileptic Oscillations in Clinical Intracranial Electroencephalograms  

PubMed Central

This paper presents grammatical evolution (GE) as an approach to select and combine features for detecting epileptic oscillations within clinical intracranial electroencephalogram (iEEG) recordings of patients with epilepsy. Clinical iEEG is used in preoperative evaluations of a patient who may have surgery to treat epileptic seizures. Literature suggests that pathological oscillations may indicate the region(s) of brain that cause epileptic seizures, which could be surgically removed for therapy. If this presumption is true, then the effectiveness of surgical treatment could depend on the effectiveness in pinpointing critically diseased brain, which in turn depends on the most accurate detection of pathological oscillations. Moreover, the accuracy of detecting pathological oscillations depends greatly on the selected feature(s) that must objectively distinguish epileptic events from average activity, a task that visual review is inevitably too subjective and insufficient to resolve. Consequently, this work suggests an automated algorithm that incorporates grammatical evolution (GE) to construct the most sufficient feature(s) to detect epileptic oscillations within the iEEG of a patient. We estimate the performance of GE relative to three alternative methods of selecting or combining features that distinguish an epileptic gamma (~65-95 Hz) oscillation from normal activity: forward sequential feature-selection, backward sequential feature-selection, and genetic programming. We demonstrate that a detector with a grammatically evolved feature exhibits a sensitivity and selectivity that is comparable to a previous detector with a genetically programmed feature, making GE a useful alternative to designing detectors.

Smart, Otis; Tsoulos, Ioannis G.; Gavrilis, Dimitris; Georgoulas, George



Fluent Versus Nonfluent Primary Progressive Aphasia: A Comparison of Clinical and Functional Neuroimaging Features  

ERIC Educational Resources Information Center

|To better characterize fluent and nonfluent variants of primary progressive aphasia (PPA). Although investigators have recognized both fluent and nonfluent patients with PPA (Mesulam, 2001), the clinical and neuroimaging features of these variants have not been fully defined. We present clinical and neuropsychological data on 47 PPA patients…

Clark, D.G.; Charuvastra, A.; Miller, B.L.; Shapira, J.S.; Mendez, M.F.



Clinical characteristics of Merkel cell carcinoma at diagnosis in 195 patients: the AEIOU features  

Microsoft Academic Search

Background: Merkel cell carcinoma (MCC) is an aggressive skin cancer with a mortality of 33%. Advanced disease at diagnosis is a poor prognostic factor, suggesting that earlier detection may improve outcome. No systematic analysis has been published to define the clinical features that are characteristic of MCC. Objective: We sought to define the clinical characteristics present at diagnosis to identify

Michelle Heath; Natalia Jaimes; Bianca Lemos; Arash Mostaghimi; Linda C. Wang; Pablo F. Penas; Paul Nghiem



Microsoft Academic Search

Pneumonia is a serious illness associated with significant morbidity and mortality. The interpretation guidelines for pneumonia management requires knowledge of both the clinical presentation of the disease and local epidemiology. We studied the clinical features, initial laboratory results, antibiotic sensitivities, and outcomes of patients diagnosed with acute com- munity-acquired pneumonia between January 1999 and December 2000 at Srinagarind Hospital. The

Wipa Reechaipichitkul; Puntip Tantiwong


Assessment of paramedian thalamic infarcts: MR imaging, clinical features and prognosis  

Microsoft Academic Search

Considering the highly variable vascular supply of the thalamic nuclei, MRI and clinical syndromes can be heterogeneous in ischemic diseases. We attempt to determine MRI pattern and to analyse neurological features and prognosis of paramedian infarcts. In a prospective case series within 5 years from 1999 to 2003, MRI, MRA and clinical symptoms of 38 consecutive patients were analysed. The inferomedial

Stefan Weidauer; Michael Nichtweiß; Friedhelm E. Zanella; Heinrich Lanfermann



Clinical-Epidemiological Features of 13 Cases of Melioidosis in Brazil  

PubMed Central

The aim of this work was to catalog the clinical and ecoepidemiological characteristics of melioidosis in Brazil. The clinical-epidemiological features of melioidosis in Ceará are similar to those in other regions where the disease is endemic. These findings support the inclusion of this Brazilian state as part of the zone of endemicity for melioidosis.

Bandeira, Tereza J. P. G.; Cordeiro, Rossana A.; Grangeiro, Thalles B.; Lima, Rita A. C.; Ribeiro, Joyce F.; Castelo-Branco, Debora S. C. M.; Rodrigues, Jorge L. N.; Coelho, Ivo C. B.; Magalhaes, Francisco G.; Rocha, Marcos F. G.; Sidrim, Jose J. C.



Clinical Features, Serum Interleukin6, and Interferon-? Levels of 34 Turkish Patients With Hepatoportal Sclerosis  

Microsoft Academic Search

Hepatoportal sclerosis (HPS) is a clinical disorder of obscure pathogenesis with a variable clinical profile. The aim of the\\u000a study was to summarize the clinical features of Turkish patients with HPS and to measure the serum levels of interleukin (IL)-6\\u000a and interferon (IFN)-? to determine the T helper cell profile in the pathogenesis. The study was conducted on 34 HPS

Ayd?n ?eref Köksal; Seyfettin Köklü; Mehmet ?bi?; Mustafa Balc?; Bahattin Çiçek; Nurgül ?a?maz; Burhan ?ahin



Cognitive Impairment and Dementia in Parkinson's Disease: Clinical Features, Diagnosis, and Management  

PubMed Central

Parkinson’s disease (PD) is a common, disabling, neurodegenerative disorder. In addition to classical motor symptoms, non-motor features are now widely accepted as part of the clinical picture, and cognitive decline is a very important aspect of the disease, as it brings an additional significant burden for the patient and caregivers. The diagnosis of cognitive decline in PD, namely mild cognitive impairment (MCI) and dementia, can be extremely challenging, remaining largely based on clinical and cognitive assessments. Diagnostic criteria and methods for PD dementia and MCI have been recently issued by expert work groups. This manuscript has synthesized relevant data in order to obtain a pragmatic and updated review regarding cognitive decline in PD, from milder stages to dementia. This text will summarize clinical features, diagnostic methodology, and therapeutic issues of clinical decline in PD. Relevant clinical genetic issues, including recent advances, will also be approached.

Meireles, Joana; Massano, Joao



A comparison of clinical features among Japanese eating-disordered women with obsessive-compulsive disorder.  


Clinical features, such as obsessive-compulsive disorder (OCD) symptoms, were investigated in Japanese women with DSM-III-R eating disorders (EDs) and concurrent OCD in comparison to age-matched women with OCD. Sixteen women with restricting anorexia nervosa (AN), 16 with bulimia nervosa (BN), and 16 with both AN and BN (BAN) showed commonality in a more elevated prevalence of OCD symptoms of symmetry and order compared with 18 OCD women. Among the personality disorders (PDs), likewise, obsessive-compulsive PD (OCPD) was more prevalent in each ED group compared with the OCD group. However, aggressive obsessions were more common in both BN and BAN subjects compared with AN subjects. Subjects with bulimic symptoms were also distinguished from AN subjects by impulsive features in behavior and personality. Thus, an elevated prevalence of aggressive obsessions along with an admixture of impulsive and compulsive features specifically characterized the clinical features of bulimic subjects with OCD. PMID:10509614

Matsunaga, H; Miyata, A; Iwasaki, Y; Matsui, T; Fujimoto, K; Kiriike, N


Serologic features of primary Sj?gren's syndrome: clinical and prognostic correlation  

PubMed Central

Sjögren’s syndrome (SS) is a chronic inflammatory systemic autoimmune disease. The disease spectrum extends from sicca syndrome to systemic involvement and extraglandular manifestations, and SS may be associated with malignancies, especially non-Hodgkin’s lymphoma. Patients with SS present a broad spectrum of serologic features. Certain serological findings are highly correlated with specific clinical features, and can be used as prognostic markers.

Garcia-Carrasco, Mario; Mendoza-Pinto, Claudia; Jimenez-Hernandez, Cesar; Jimenez-Hernandez, Mario; Nava-Zavala, Arnulfo; Riebeling, Carlos



Clinical features in familial cases of Crohn's disease and ulcerative colitis in Italy: a GISC* study  

Microsoft Academic Search

OBJECTIVE:Previous studies have reported genetic anticipation, genomic imprinting, and phenotypic concordance of some clinical features in familial cases of Crohn's disease (CD) and ulcerative colitis (UC). The aim of our study was to investigate the phenotypic features of affected members in a large sample of CD and UC Italian families.METHODS:In a multicenter study, CD and UC families were recruited. Affected

V. Annese; A. Andreoli; M. Astegiano; M. Campieri; R. Caprilli; S. Cucchiara; R. D'Inca; S. Giaccari; G. Iaquinto; G. Lombardi; G. Napolitano; A. Pera; G. Riegler; D. Valpiani; A. Andriulli



Clinical features of boys with fragile X premutations and intermediate alleles.  


Fragile X syndrome has a characteristic behavioural and physical phenotype. Clinical experience and case reports suggest that boys with premutations and intermediate alleles may have similar, but possibly milder, clinical features than those with the full mutation. We conducted detailed physical, psychiatric, psychological and speech and language evaluations on a clinical series of 10 boys, with either premutation or intermediate CGG triplet expansions. Wherever possible we measured the levels of FMR1 protein in participants' hair roots. Many participants demonstrated striking resemblance in their clinical picture, behavioural and physical, to individuals with the fragile X syndrome full mutation. However, protein expression was normal in all participants where it was assessed, despite large variation in CGG triplet repeats. We propose that the findings are unlikely to be attributable to ascertainment bias alone. Replication on larger independent samples is required to confirm our impression that fragile X premutations and intermediate alleles may be associated with important developmental disabilities and physical features. PMID:12898586

Aziz, Monica; Stathopulu, Eleni; Callias, Maria; Taylor, Catherine; Turk, Jeremy; Oostra, Ben; Willemsen, Rob; Patton, Mike



Clinical Features of Patients with Invasive Eikenella corrodens Infections and Microbiological Characteristics of the Causative Isolates  

Microsoft Academic Search

Clinical features of 43 cases of invasive Eikenella corrodens infections diagnosed at National Taiwan University Hospital during a 6-year period (1993–1998) were analyzed. The clinical\\u000a syndromes included head and neck infection (56%), pulmonary infection (23%), intra-abdominal infection (14%), cutaneous infection\\u000a (5%), skeletal infection (2%), endocarditis (2%), and pelvic abscess (2%). Nearly two-thirds of the patients (63%) had pre-existing\\u000a diseases. Malignancy

W.-S. Sheng; P.-R. Hsueh; C.-C. Hung; L.-J. Teng; Y.-C. Chen; K.-T. Luh



Clinical features differentiating patients with postmortem confirmed progressive supranuclear palsy and corticobasal degeneration  

Microsoft Academic Search

Progressive supranuclear palsy (PSP) and corticobasal degeneration (CBD) are often clinically confused with each other because\\u000a they share a rapid disease progression, parkinsonism that responds poorly or transiently to levodopa therapy, and associated\\u000a signs (e.g., ocular abnormalities, pyramidal signs and cognitive involvement). To improve the accuracy in diagnosing these\\u000a disorders, this study examined the clinical features of 51 patients pathologically

I. Litvan; D. A. Grimes; A. E. Lang; J. Jankovic; A. McKee; M. Verny; K. Jellinger; K. R. Chaudhuri; R. K. B. Pearce



Clinical Features of Renal Insufficiency due to Multiple Myeloma andRelated Risk Factors  

Microsoft Academic Search

Objective: To study clinical features\\u000aof the patients with multiple myeloma (MM) accompanied by renal\\u000ainsufficiency and investigate the related risk factors of renal\\u000aimpairment. Methods: A control study of clinical\\u000acharacteristics was performed between 91 patients with renal\\u000ainsufficiency due to MM and 165 patients with normal renal\\u000afunction in MM during the same period. The data were statistically

Xuemei LIU; Jinlan XU; Xuhua GUAN; Liqiu LIU



Clinical features of mitochondrial DNA m.3243A>G mutation in 47 Chinese families  

Microsoft Academic Search

m.3243A>G mutation in mitochondrial DNA is the most common pathogenic point mutation, causing a variety of phenotypes. To further elucidate its clinical characteristics, we recruited 47 Chinese families carrying m.3243A>G mutation and analyzed their symptoms, disease history, inheritance, and mitochondria-related complications. In the probands, lactic acidosis, myopathy, seizures, short stature, weight loss and hirsutism were the most common clinical features.

Yinan Ma; Fang Fang; Yanyan Cao; Yanling Yang; Liping Zou; Ying Zhang; Songtao Wang; Sainan Zhu; Yufeng Xu; Pei Pei; Yu Qi



Histological, Immunohistological, and Clinical Features of Merkel Cell Carcinoma in Correlation to Merkel Cell Polyomavirus Status  

PubMed Central

Merkel cell carcinoma is a rare, but highly malignant tumor of the skin with high rates of metastasis and poor survival. Its incidence rate rises and is currently about 0.6/100000/year. Clinical differential diagnoses include basal cell carcinoma, cyst, amelanotic melanoma, lymphoma and atypical fibroxanthoma. In this review article clinical, histopathological and immunhistochemical features of Merkel cell carcinoma are reported. In addition, the role of Merkel cell polyomavirus is discussed.

Jaeger, T.; Ring, J.; Andres, C.



The clinical features of albinism and their correlation with visual evoked potentials  

PubMed Central

Aim: To investigate the relation between the clinical and electrophysiological abnormalities of patients undergoing visual evoked potential investigation for albinism. Methods: 40 subjects with a probable or possible clinical diagnosis of albinism underwent pattern appearance and/or flash visual evoked potential (VEP) examination. The VEP findings are correlated with the clinical features of albinism determined by clinical examination and orthoptic assessment. Results: The majority of patients with clinical evidence of albinism showed a contralateral predominance in the VEPs. There was close correlation between the clinical signs of albinism and the degree of contralateral VEP predominance. This manifested as an interhemispheric latency asymmetry to monocular pattern appearance stimulation but amplitude asymmetry to flash stimulation. The strongest correlation for pattern appearance interhemispheric latency difference was with foveal hypoplasia (rho = 0.58; p = 0.0003) followed by nystagmus (rho = 0.48; p = 0.0027) and iris transillumination (rho = 0.33; p = 0.039). The VEP abnormalities were of greater magnitude in those patients with most features of albinism. Several patients with apparently mild disorders of ocular pigmentation had small but significantly abnormal VEP latency asymmetries. Conclusion: There is a strong association between the magnitude of the interhemispheric latency asymmetry of the pattern appearance VEP, and of amplitude asymmetry of the flash VEP, with the clinical signs of albinism. The data are consistent with a spectrum of abnormalities in albinism involving both clinical expression and electrophysiological misrouting, which is wider than previously recognised.

Dorey, S E; Neveu, M M; Burton, L C; Sloper, J J; Holder, G E



Clinical features of early onset, familial Alzheimer`s disease linked to chromosome 14  

SciTech Connect

Early onset familial Alzheimer`s disease (AD) has an autosomal dominant mode of inheritance. Two genes are responsible for the majority of cases of this subtype of AD. Mutations in the {beta}-amyloid precursor protein ({beta}APP) gene on chromosome 21 have been shown to completely cosegregate with the disease. We and others have previously described the clinical features of families with {beta}APP mutations at the codon 717 locus in an attempt to define the phenotype associated with a valine to isoleucine (Val {r_arrow} Ile) or a valine to glycine (Val {r_arrow} Gly) change. More recently, a second locus for very early onset disease has been localized to chromosome 14. The results of linkage studies in some families suggesting linkage to both chromosomes have been explained by the suggestion of a second (centromeric) locus on chromosome 21. Here we report the clinical features and genetic analysis of a British pedigree (F74) with early onset AD in which neither the {beta}APP locus nor any other chromosome 21 locus segregates with the disease, but in which good evidence is seen for linkage on the long arm of chromosome 14. In particular we report marker data suggesting that the chromosome 14 disease locus is close to D14S43 and D14S77. Given the likelihood that F74 represents a chromosome 14 linked family, we describe the clinical features and make a limited clinical comparison with the {beta}APP717 Val {r_arrow} Ile and {beta}APP717 Val {r_arrow} Gly encoded families that have been previously described. We conclude that although several previously reported clinical features occur to excess in early onset familial AD, no single clinical feature demarcates either the chromosome 14 or {beta}APP codon 717 mutated families except mean age of onset. 52 refs., 2 figs., 5 tabs.

Mullan, M.; Bennett, C.; Figueredo, C.; Crawford, F. [Univ. of South Florida, Tampa, FL (United States)] [and others



Aromatic L-Amino Acid Decarboxylase Deficiency: Clinical Features, Diagnosis, and Treatment of a Second Family  

Microsoft Academic Search

Aromatic L-amino acid decarboxylase deficiency is an inborn error of metabolism that leads to combined serotonin and catecholamine deficiency, first described by Hyland et al in 1990. The clinical features, biochemical findings, and treatment of the second family with this condition are reported. Our male patient presented with developmental delay, extreme hypotonia, oculogyric crises, and irritability. The diagnosis of this

Alfreda Maller; Keith Hyland; Sheldon Milstien; Italo Biaggioni; Ian J. Butler



Subclinical Cushing's Syndrome in Patients with Adrenal Incidentaloma: Clinical and Biochemical Features  

Microsoft Academic Search

Incidentally discovered adrenal masses are mostly benign, asymp- tomatic lesions, often arbitrarily considered as nonfunctioning tu- mors. Recent studies, however, have reported increasing evidence that subtle cortisol production and abnormalities in the hypothalam- ic-pituitary-adrenal (HPA) axis are more frequent than previously thought. The purpose of this study was to investigate the clinical and hormonal features of patients with incidentally discovered




Quantitative Sonographic Feature Analysis of Clinical Infant Hypoxia: A Pilot Study  

Microsoft Academic Search

PURPOSE: To determine whether textural features derived from sonographic pixel intensities differ significantly between healthy infants and infants who have had acute clinical hypoxic episodes. METHODS: Neurosonographic and calibration phantom-processed image data were evaluated prospectively from 9 infants (age range, 1 to 163 days) with at least 1 episode of hypoxia and compared with image data from a control population

Lori L. Barr; Patrick J. McCullough; William S. Ball; Brian H. Krasner; Brian S. Garra; James A. Deddens


Abnormalities of the contingent negative variation in Huntington's disease: Correlations with clinical features  

Microsoft Academic Search

The contingent negative variation (CNV) is a neurophysiological pattern related to planning of external — paced, voluntary movements. The aim of the study, was to examine the CNV in a cohort of mild demented and non-medicated HD patients, evaluating the CNV amplitude modifications in the light of clinical features and performing Low Resolution Brain Electromagnetic Tomography (LORETA) analysis in order

Marina de Tommaso; Olimpia Difruscolo; Vittorio Sciruicchio; Nicola Specchio; Paolo Livrea



Feature Issue Introduction: Bio-Optics in Clinical Applications, Nanotechnology, and Drug Discovery  

PubMed Central

The editors introduce the Biomedical Optics Express feature issue, “Bio-Optics in Clinical Applications, Nanotechnology, and Drug Discovery,” which combines three technical areas from the 2010 Optical Society of America (OSA), Biomedical Optics (BIOMED) Topical Meeting held on 11–14 April in Miami, FL and includes contributions from conference attendees.

Nordstrom, Robert J.; Almutairi, Adah; Hillman, Elizabeth M.C.



Dominant and recessive polycystic kidney disease in children: evaluation of clinical features and laboratory data  

Microsoft Academic Search

The clinical features and laboratory data of 93 children with polycystic kidney disease were analysed. Family studies showed that the disease was dominant (DPKD) in 17 and recessive (RPKD) in 32 of them. Of the remaining 44 sporadic patients, 1 was classified by histological and\\/or imaging findings as having DPKD, 41 as having RPKD and 2 could not be classified.

H. Kääriäinen; O. Koskimies; R. Norio



Difference in clinical features between Japanese and German patients with refractory anemia in myelodysplastic syndromes  

Microsoft Academic Search

Several reports indicate that there might be differences in clinical features be- tween Asian and Western myelodysplas- tic syndrome (MDS) cases. We analyzed refractory anemia (RA) in French-American- British (FAB) classification cases diag- nosed in Japan and Germany to perform a more exact comparison between Asian and Western MDS types. In the first step, we analyzed agreement of morphologic diagnosis

Akira Matsuda; Ulrich Germing; Itsuro Jinnai; Motohiro Misumi; Andrea Kuendgen; Sabine Knipp; Manuel Aivado; Masako Iwanaga; Yasushi Miyazaki; Hideki Tsushima; Mari Sakai; Masami Bessho; Masao Tomonaga



Microsoft Academic Search

Objective: To assess the ability of the Wisconsin Gait Scale to evaluate qualitative features of changes in hemiplegic gait in post-stroke patients. Design: A prospective observational study. Subjects: Ten healthy subjects and 56 hemiplegic outpatients, more than 12 months post-stroke, consecutively admitted in a rehabilitation centre. Methods: Patients were videotaped while walking at a com- fortable speed. Quantitative and clinical

Assunta Pizzi; Giovanna Carlucci; Catuscia Falsini; Francesco Lunghi; Sonia Verdesca; Antonello Grippo



Clinical Features and Management Outcomes of Severe Hand, Foot and Mouth Disease  

Microsoft Academic Search

Objective: This study was designed to describe the clinical features and management outcomes of severe hand, foot and mouth disease (HFMD). Subjects and Methods: Data on 147 severe HFMD patients during an outbreak in 2009 were analyzed. Results: Most patients were under 3 years of age; 102 (69.4%) were boys. All had skin rashes and fever of ?38°C. All (n

Hui Tian; Qiao-Zhi Yang; Jun Liang; Sheng-Ying Dong; Zhi-Jun Liu; Le-Xin Wang



Chronic abdominal wall pain: Clinical features, health care costs, and long-term outcome  

Microsoft Academic Search

Background & Aims: Chronic abdominal wall pain (CAWP) often is misdiagnosed. We evaluated CAWP patients regarding diagnosis accuracy, clinical features, comorbidity, referral frequency, use of care, and long-term outcome. Methods: We reviewed the records of all outpatients referred to a gastroenterologist in 5 years, recorded referral indications, and identified patients initially diagnosed with CAWP or irritable bowel syndrome (IBS). Charts

Christopher D Costanza; George F Longstreth; Amy L Liu



Clinical and hematological features of homozygous hemoglobin O-Arab [beta 121 Glu???Lys].  


Hemoglobin O-Arab [Beta 121 Glu???Lys] (Hb O-Arab) is a rare abnormal hemoglobin (Hb) whose clinical and hematological features have been described in adults but not in children. We report three children, 9, 12, and 36 months of age, with homozygous Hb O-Arab and assess the value of supplementary folic acid as treatment. PMID:23192960

Dror, Sayar



Adult onset polymyositis\\/dermatomyositis: clinical and laboratory features and treatment response in 75 patients  

Microsoft Academic Search

OBJECTIVES--To determine possible similarities and differences in clinical and laboratory features and treatment response between patients in Singapore with polymyositis (PM) and dermatomyositis (DM) and reported series. METHODS--Case records of adult patients (16 years old and above) referred to the 3 main electromyographic (EMG) laboratories in Singapore between 1 June 1986 and 31 May 1991 were reviewed if the referring

E T Koh; A Seow; B Ong; P Ratnagopal; H Tjia; H H Chng



Clinical and Neuropathological Features of the Arctic APP Gene Mutation Causing Early-Onset Alzheimer Disease  

Microsoft Academic Search

Background: A majority of mutations within the - amyloid region of the amyloid precursor protein (APP) gene cause inherited forms of intracerebral hemor- rhage. Most of these mutations may also cause cognitive impairment, but the Arctic APP mutation is the only known intra--amyloid mutation to date causing the more typical clinical picture of Alzheimer disease. Objective: To describe features of

Hans Basun; Nenad Bogdanovic; Martin Ingelsson; Ove Almkvist; Jan Naslund; Karin Axelman; Thomas D. Bird; David Nochlin; Gerard D. Schellenberg; Lars-Olof Wahlund; Lars Lannfelt



Clinical features, aetiology and outcome of empyema in children in the north east of England  

Microsoft Academic Search

Background: The incidence of empyema in children in the UK is increasing. The reason for this is unclear. A prospective study was undertaken to investigate the clinical features, aetiology, and outcome of cases of empyema and parapneumonic effusion presenting to a tertiary paediatric respiratory centre between February 1997 and August 2001.Method: Routine bacterial culture of blood and pleural fluid was

K M Eastham; R Freeman; A M Kearns; G Eltringham; J Clark; J Leeming; D A Spencer



Obsessive–compulsive disorder and body dysmorphic disorder: a comparison of clinical features  

Microsoft Academic Search

Body dysmorphic disorder (BDD) is currently classified as a somatoform disorder in DSM-IV, but has been long noted to have some important similarities with obsessive–compulsive disorder (OCD). In addition, BDD and OCD have been often reported to be comorbid with each other. In the present study, we compared demographic characteristics, clinical features and psychiatric comorbidity in patients with OCD, BDD

Franco Frare; Giulio Perugi; Giuseppe Ruffolo; Cristina Toni



End-stage coxarthrosis and gonarthrosis. Aetiology, clinical patterns and radiological features of idiopathic osteoarthritis  

Microsoft Academic Search

Objectives. To determine and compare the aetiological background, clinical patterns and radiological features of idiopathic osteoarthritis (OA) of the hip and the knee warranting arthroplasty. Methods. A total of 402 Caucasians consecutively undergoing total hip replacement ( THR) or total knee replacement (TKR) for idiopathic OA at a major centre was surveyed. Results. Previous joint injury was more common in

J. Chitnavis; J. S. Sinsheimer; M. A. Suchard; K. Clipsham; A. J. Carr



Clinical, Psychological and Personality Features Related to Age of Onset of Anorexia Nervosa  

Microsoft Academic Search

Background: To investigate the relationship between age of onset and clinical and personality features of patients with anorexia nervosa (AN). Sampling andMethod: We assessed 250 outpatients with AN with the Temperament and Character Inventory, the Eating Disorder Inventory 2, the Beck Depression Inventory and the Body Shape Questionnaire. The patients were subdivided into 3 groups: early (n = 73), intermediate

G. Abbate-Daga; A. Pierò; R. Rigardetto; M. Gandione; C. Gramaglia; S. Fassino



Clinical features of non-diabetic renal diseases in patients with type 2 diabetes  

Microsoft Academic Search

Although persistent proteinuria is characteristic of diabetic nephropathy (DN), it is important to differentiate non-diabetic renal diseases (NDRD) in diabetic patients with proteinuria. In order to re-evaluate the indications for renal biopsy in the diabetic patients, we retrospectively analyzed the relationship between clinical features and histological diagnosis in 97 Japanese patients with type 2 diabetes manifesting overt proteinuria. Renal biopsy

Atsuhito Tone; Kenichi Shikata; Mitsuhiro Matsuda; Hitomi Usui; Shinichi Okada; Daisuke Ogawa; Jun Wada; Hirofumi Makino



Relationship between sensitivity to carbon dioxide and clinical features in patients with chronic airways obstruction  

Microsoft Academic Search

This study was designed to investigate the relationship between the different clinical features exhibited by patients with chronic airways obstruction and their responsiveness to carbon dioxide. In 19 patients pulmonary function was assessed by spirometry, lung volumes and arterial blood gases. Measurements of responsiveness to carbon dioxide were made and compared with responses obtained in five normal subjects. Assessed in

J. B. L. Howell



Diverticulitis of the cecum and right colon: Clinical and radiographic features  

Microsoft Academic Search

Eighteen cases of cecal and right colon diverticulitis have been presented. The clinical features, radiologic aspects, and modes of treatment have been emphasized. This series does not support the common concept that most diverticula of the cecum are solitary. The application of careful and repeated barium enema studies and detailed pathologic studies of specimens is urged to elucidate further the

Adolfo Schapira; Julius J. Leichtling; Bernard S. Wolf; Richard H. Marshak; Henry D. Janowitz



Clinical Features of Antibody-Induced Complete Secondary Failure of Botulinum Toxin Therapy  

Microsoft Academic Search

In some patients treated with botulinum toxin type A (BT), secondary therapy failure occurs. It can either be partial (PSTF) or complete (CSTF). One of the main causes for CSTF is the formation of antibodies against BT. We wanted to study the clinical features of BT antibody-induced CSTF to improve its detection. For this, 27 patients with various dystonic syndromes

Dirk Dressler



N-isopropyl-p-( sup 123 I)iodoamphetamine SPECT in MELAS syndrome: Comparison with CT and MR imaging  

SciTech Connect

Regional cerebral perfusion was studied in three patients with the mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS) syndrome, using single photon emission computed tomography (SPECT) with N-isopropyl-p-(123I)iodoamphetamine (IMP). Accumulation of the tracer was relatively decreased in the parietooccipital regions and also in the frontotemporal regions after stroke-like episodes. However, quantitative regional cerebral blood flow (rCBF) measurement showed that rCBF was relatively well preserved even at these sites, and a hyperemic state was observed at the sites of normal accumulation. IMP SPECT may be useful in the diagnosis and assessment of the progress of the MELAS syndrome.

Satoh, M.; Ishikawa, N.; Yoshizawa, T.; Takeda, T.; Akisada, M. (Univ. of Tsukuba (Japan))



Oral lichen planus: the clinical, historical, and therapeutic features of 100 cases.  


Lichen planus is a chronic inflammatory epidermal and mucosal disease, the cause of which is poorly understood. We reviewed the clinical and historic features of 100 patients referred to our clinic for diagnosis and management of lichen planus. The age, gender, chief complaint, duration of the chief complaint, medical history, medications, and clinical findings were recorded. Past therapeutic modalities were reviewed. Of therapeutic significance, 25 patients with oral lichen planus had a secondary oral candidiasis. Management of symptomatic lichen planus with topical and systemic steroid is discussed. The pharmacology of topical and systemic steroid usage and the rationale for treatment are discussed. PMID:2290644

Vincent, S D; Fotos, P G; Baker, K A; Williams, T P



Clinical findings and imaging features of 67 nasopharyngeal carcinoma patients with postradiation nasopharyngeal necrosis.  


Postradiation nasopharyngeal necrosis is an important late effect of radiotherapy that affects prognosis in patients with nasopharyngeal carcinoma. In the present study, we reviewed the clinical and imaging features of 67 patients with pathologically diagnosed postradiation nasopharyngeal necrosis who were treated at Sun Yat-sen University Cancer Center between June 2006 and January 2010. Their clinical manifestations, endoscopic findings, and imaging features were analyzed. Early nasopharyngeal necrosis was limited to a local site in the nasopharyngeal region, and the tissue defect was not obvious, whereas deep parapharyngeal ulcer or signs of osteoradionecrosis in the basilar region was observed in serious cases. Those with osteoradionecrosis and/or exposed carotid artery had a high mortality. In conclusion, Postradiation nasopharyngeal necrosis has characteristic magnetic resonance imaging appearances, which associate well with clinical findings, but pathologic examination is essential to make the diagnosis. PMID:23816556

Chen, Ming-Yuan; Mai, Hai-Qiang; Sun, Rui; Guo, Xiang; Zhao, Chong; Hong, Ming-Huang; Hua, Yi-Jun



Neurobrucellosis: clinical, diagnostic, therapeutic features and outcome. Unusual clinical presentations in an endemic region.  


Brucellosis is a zoonotic infection and has endemic characteristics. Neurobrucellosis is an uncommon complication of this infection. The aim of this study was to present unusual clinical manifestations and to discuss the management and outcome of a series of 18 neurobrucellosis cases. Initial clinical manifestations consist of pseudotumor cerebri in one case, white matter lesions and demyelinating syndrome in three cases, intracranial granuloma in one case, transverse myelitis in two cases, sagittal sinus thrombosis in one case, spinal arachnoiditis in one case, intracranial vasculitis in one case, in addition to meningitis in all cases. Eleven patients were male and seven were female. The most prevalent symptoms were headache (83%) and fever (44%). All patients were treated with rifampicin, doxycycline plus trimethoprim-sulfamethoxazole or ceftriaxone. Duration of treatment (varied 3-12 months) was determined on basis of the CSF response. In four patients presented with left mild sequelae including aphasia, hearing loss, hemiparesis. In conclusion, although mortality is rare in neurobrucellosis, its sequelae are significant. In neurobrucellosis various clinical and neuroradiologic signs and symptoms can be confused with other neurologic diseases. In inhabitants or visitors of endemic areas, neurobrucellosis should be kept in mind in cases that have unusual neurological manifestations. PMID:21412590

Ceran, Nurgul; Turkoglu, Recai; Erdem, Ilknur; Inan, Asuman; Engin, Derya; Tireli, Hulya; Goktas, Pasa


Parkinson disease: insights in clinical, genetic and pathological features of monogenic disease subtypes.  


In the past 15 years, insights in clinical and genetic characteristics of Parkinson disease (PD) have increased substantially. Sequence or copy number variants in at least six genes (SNCA, LRRK2, PARK2, PINK1, DJ-1 and ATP13A2) have been identified to cause monogenic forms of PD. Routine clinical testing for mutations in these genes is feasible and available, but overlapping phenotypes in monogenic and sporadic PD complicate straightforward diagnostic screening. Primarily, a positive familial history and an early onset age should prompt clinicians to consider genetic testing. Based on a literature review on clinical and neuropathological features of PD patients carrying a pathogenic mutation we propose guidelines for genetic diagnostic testing in clinical practice. However, the absence of disease-modifying therapies and the variable penetrance of most known mutations currently limit the usefulness of genetic diagnostic testing for PD in clinical practice. PMID:21810464

Crosiers, David; Theuns, Jessie; Cras, Patrick; Van Broeckhoven, Christine



[Cardiac damage in sarcoidosis: clinical features and impact of steroid therapy].  


Twenty-seven sarcoidosis patients with signs of cardiac damage were examined to study the clinical features of cardiac sarcoidosis and the impact of systemic glucocorticosteroid (GCS) therapy on its course. ECG and echoECG changes were observed in 21 (78%) and 17 (63%) patients, respectively; abnormal perfusion was seen in 25 (93%) patients at single-photon emission myocardial computed tomography using 99mTc-MIBI. Three clusters (clinical types) of patients were identified, which differed in the pattern and degree of cardiac disorders. The use of systemic GCSs in 13 of 20 patients resulted in myocardial perfusion recovery and clinical improvement, the degree and duration of which depended on what cluster it belonged to. Seven GCS-untreated patients had progressive perfusion disorders with subsequent or synchronous clinical deterioration (p < 0.05). The degree and duration of the positive effect of a GCS differed depending on the clinical type of cardiac damage. PMID:19382639

Ivanova, D A; Borisov, S E; Nedostup, A V; Pasha, S P



Clinical features, etiology, and outcomes of community-acquired pneumonia in patients with diabetes mellitus.  


We performed an observational analysis of a prospective cohort of immunocompetent hospitalized adults with community-acquired pneumonia (CAP) to determine the epidemiology, clinical features, and outcomes of pneumonia in patients with diabetes mellitus (DM). We also analyzed the risk factors for mortality and the impact of statins and other cardiovascular drugs on outcomes. Of 2407 CAP episodes, 516 (21.4%) occurred in patients with DM; 483 (97%) had type 2 diabetes, 197 (40%) were on insulin treatment, and 119 (23.9%) had end-organ damage related to DM. Patients with DM had different clinical features compared to the other patients. They were less likely to have acute onset, cough, purulent sputum, and pleural chest pain. No differences in etiology were found between study groups. Patients with DM had more inhospital acute metabolic complications, although the case-fatality rate was similar between the groups. Independent risk factors for mortality in patients with DM were advanced age, bacteremia, septic shock, and gram-negative pneumonia. Patients with end-organ damage related to DM had more inhospital cardiac events and a higher early case-fatality rate than did the overall population. The use of statins and other cardiovascular drugs was not associated with better CAP outcomes in patients with DM. In conclusion, CAP in patients with DM presents different clinical features compared to the features of patients without DM. PMID:23263718

Di Yacovo, Silvana; Garcia-Vidal, Carolina; Viasus, Diego; Adamuz, Jordi; Oriol, Isabel; Gili, Francesca; Vilarrasa, Núria; García-Somoza, M Dolors; Dorca, Jordi; Carratalà, Jordi



Monitoring pulmonary fibrosis by fusing clinical, physiological, and computed tomography features.  


Advances in medical imaging and screening tests have made possible the detection and diagnosis of many diseases in their early stages. Those advances have enabled more effective planning, execution, and monitoring of a treatment plan. However, early detection has also resulted in an increase of the number of longitudinal radiographs requested for most patients, thus increasing the risk for potential long-term effects of ionizing radiation exposure and increasing the cost associated with a specific treatment plan. The aim of this paper is to study the associations between clinical measurements and quantitative image features in patients with pulmonary fibrosis. The association between these multi-modal features could be used to more accurately determine the state of the disease and could potentially be used to predict many of the longitudinal image features when CT images are not available. Our results show how textural image features are highly correlated with the severity of fibrosis, how clinical variables can be combined to monitor progression, and how simple blood features can be used to predict statistical image attributes of the lungs. PMID:22255759

Caban, Jesus J; Yao, Jianhua; Bagci, Ulas; Mollura, Daniel J



Monitoring Pulmonary Fibrosis by Fusing Clinical, Physiological, and Computed Tomography Features  

PubMed Central

Advances in medical imaging and screening tests have made possible the detection and diagnosis of many diseases in their early stages. Those advances have enabled more effective planning, execution, and monitoring of a treatment plan. However, early detection has also resulted in an increase of the number of longitudinal radiographs requested for most patients, thus increasing the risk for potential long-term effects of ionizing radiation exposure and increasing the cost associated with a specific treatment plan. The aim of this paper is to study the associations between clinical measurements and quantitative image features in patients with pulmonary fibrosis. The association between these multi-modal features could be used to more accurately determine the state of the disease and could potentially be used to predict many of the longitudinal image features when CT images are not available. Our results show how textural image features are highly correlated with the severity of fibrosis, how clinical variables can be combined to monitor progression, and how simple blood features can be used to predict statistical image attributes of the lungs.

Caban, Jesus J; Yao, Jianhua; Bagci, Ulas; Mollura, Daniel J



Computational phenotype discovery using unsupervised feature learning over noisy, sparse, and irregular clinical data.  


Inferring precise phenotypic patterns from population-scale clinical data is a core computational task in the development of precision, personalized medicine. The traditional approach uses supervised learning, in which an expert designates which patterns to look for (by specifying the learning task and the class labels), and where to look for them (by specifying the input variables). While appropriate for individual tasks, this approach scales poorly and misses the patterns that we don't think to look for. Unsupervised feature learning overcomes these limitations by identifying patterns (or features) that collectively form a compact and expressive representation of the source data, with no need for expert input or labeled examples. Its rising popularity is driven by new deep learning methods, which have produced high-profile successes on difficult standardized problems of object recognition in images. Here we introduce its use for phenotype discovery in clinical data. This use is challenging because the largest source of clinical data - Electronic Medical Records - typically contains noisy, sparse, and irregularly timed observations, rendering them poor substrates for deep learning methods. Our approach couples dirty clinical data to deep learning architecture via longitudinal probability densities inferred using Gaussian process regression. From episodic, longitudinal sequences of serum uric acid measurements in 4368 individuals we produced continuous phenotypic features that suggest multiple population subtypes, and that accurately distinguished (0.97 AUC) the uric-acid signatures of gout vs. acute leukemia despite not being optimized for the task. The unsupervised features were as accurate as gold-standard features engineered by an expert with complete knowledge of the domain, the classification task, and the class labels. Our findings demonstrate the potential for achieving computational phenotype discovery at population scale. We expect such data-driven phenotypes to expose unknown disease variants and subtypes and to provide rich targets for genetic association studies. PMID:23826094

Lasko, Thomas A; Denny, Joshua C; Levy, Mia A



Computational Phenotype Discovery Using Unsupervised Feature Learning over Noisy, Sparse, and Irregular Clinical Data  

PubMed Central

Inferring precise phenotypic patterns from population-scale clinical data is a core computational task in the development of precision, personalized medicine. The traditional approach uses supervised learning, in which an expert designates which patterns to look for (by specifying the learning task and the class labels), and where to look for them (by specifying the input variables). While appropriate for individual tasks, this approach scales poorly and misses the patterns that we don’t think to look for. Unsupervised feature learning overcomes these limitations by identifying patterns (or features) that collectively form a compact and expressive representation of the source data, with no need for expert input or labeled examples. Its rising popularity is driven by new deep learning methods, which have produced high-profile successes on difficult standardized problems of object recognition in images. Here we introduce its use for phenotype discovery in clinical data. This use is challenging because the largest source of clinical data – Electronic Medical Records – typically contains noisy, sparse, and irregularly timed observations, rendering them poor substrates for deep learning methods. Our approach couples dirty clinical data to deep learning architecture via longitudinal probability densities inferred using Gaussian process regression. From episodic, longitudinal sequences of serum uric acid measurements in 4368 individuals we produced continuous phenotypic features that suggest multiple population subtypes, and that accurately distinguished (0.97 AUC) the uric-acid signatures of gout vs. acute leukemia despite not being optimized for the task. The unsupervised features were as accurate as gold-standard features engineered by an expert with complete knowledge of the domain, the classification task, and the class labels. Our findings demonstrate the potential for achieving computational phenotype discovery at population scale. We expect such data-driven phenotypes to expose unknown disease variants and subtypes and to provide rich targets for genetic association studies.

Lasko, Thomas A.; Denny, Joshua C.; Levy, Mia A.



Perfusion status of the stroke-like lesion at the hyperacute stage in MELAS.  


Hypoperfusion on single-photon emission computed tomography (SPECT) of the stroke-like lesion (SLL) at the hyperacute stage of mitochondrial encephalopathy with lactic acidosis and stroke-like episodes (MELAS) is considered to be a supportive evidence of the mitochondrial angiopathy theory. Our objectives were to examine whether other neuroimages, especially transcranial color-coded sonography (TCCS), done at the hyperacute stage of stroke-like episode (SLE) is consistent with hypoperfusion of the SLL. We reviewed the magnetic resonance imaging (MRI), SPECT, cerebral angiography, and TCCS of a patient with MELAS syndrome, all of which were performed at the hyperacute stage of one SLE. MRI on the 1st day post SLE showed right temporoparietal lesion with vasogenic edema. SPECT on the 2nd day showed focal decreased uptake of technetium-99m hexamethylpropyleneamine oxime ((99m)Tc-HMPAO) in the same region, but cerebral angiography and TCCS on the 3rd day showed increased regional cerebral blood flow (rCBF) and distal arteriole dilation in the same region. TCCS can delineate increased rCBF of the SLL at the hyperacute stage of SLE. We propose that the discrepancy between the decreased (99m)Tc-HMPAO uptake and increased rCBF might be caused by mitochondrial dysfunction. The phenomenon of "hypoperfusion" on SPECT might be caused by cell dysfunction but not decreased rCBF. We suggest that SPECT can be complemented by angiography and TCCS in future studies to delineate the perfusion status of SLLs. PMID:22516515

Yeh, Hsu-Ling; Chen, Yen-Kung; Chen, Wei-Hung; Wang, Han-Cheng; Chiu, Hou-Chang; Lien, Li-Ming; Wei, Yau-Huei



[The ethiology, pathogenesis, diagnostics and clinical features of the complicated posttraumatic rectal fistulae].  


The ethiology, pathogenesis, diagnostics, clinical features and the capabilities of modern instrumental methods in the diagnosis of 134 patients with posttraumatic rectal fistulaes. The main causes of the rectal fistulae formation was the mechanism of the forecoming trauma, late hospital admission and postoperative complications. The use of modern diagnostic facilities allows to know the anatomic features of the fistulae, the presence of the septic cavities of the pararectal tissue, the involvement of sphincter muscles to the inflammatory process and their functional state. All the listed above facilitate the efficacy of the surgical treatment. PMID:22951612

Mamedov, N I



MELAS and reversible vasoconstriction of the major cerebral arteries.  


A 26-year-old woman was admitted due to an altered mental status and generalized tonic-clonic seizures. She had experienced chronic migraine-like headaches, progressive bilateral hearing loss, a short stature and nephrotic syndrome. Laboratory data showed elevated lactate and pyruvate levels. Brain MRI using diffusion-weighted imaging revealed a hyperintense lesion in the left temporal lobe. MR angiography revealed segmental stenosis at the C1 and M1-2 junction. A genetic study revealed a mitochondrial DNA A3243G point mutation. The patient's clinical symptoms and MRI/MR angiography (MRA) findings improved within four weeks. We herein discuss the possible pathophysiology involving both stroke-like episodes and reversible vasoconstriction. PMID:23774553

Yoshida, Takeshi; Ouchi, Atsushi; Miura, Daisuke; Shimoji, Kunihiro; Kinjo, Kazushi; Sueyoshi, Takeshi; Jonosono, Manabu; Rajput, Vijay



A zymogel enhances the self-cleaning abilities of the skin of the pilot whale ( Globicephala melas)  

Microsoft Academic Search

Enzyme activity in the stratum corneum of the pilot whale Globicephala melas was investigated employing colorimetric enzyme screening assays combined with NATIVE PAGE, size exclusion chromatography (SEC) and histochemical staining procedures. Applying different substrates, several enzymes were detected. The histochemical demonstration of some selected hydrolytic enzymes enriched in the stratum corneum showed high extracellular accumulation. As demonstrated by size exclusion

C. Bauma; W. Meyer; D. Roessner; D. Siebersa; L.-G. Fleischer



Two Cases of Chronic Idiopathic Intestinal Pseudo-obstruction with Different Clinical Features  

PubMed Central

Chronic intestinal pseudo-obstruction (CIPO) is a rare disorder characterized by a severe impairment of gastrointestinal propulsion in the absence of mechanical obstruction. We experienced a case of chronic pseudo-obstruction in the initial phase mimicking acute pseudo-obstruction, which was treated medically. This ongoing case was compared to another recurrent and intractable case successfully treated with surgery and diagnosed as hypoganglionosis. These two cases showed different clinical features and therapeutic approaches for CIPO; one with the first episode of CIPO mimicking Ogilvie's syndrome; the other with recurrent episodes of CIPO with typical features. In conclusion, CIPO is a difficult disorder with various clinical manifestations and different treatment modalities, therefore individualized diagnostic and therapeutic approaches are needed.

Lee, Byoung Hwan; Kang, Sung-Bum; Lee, Kyoung-Ho; Oh, Jane C.; Kim, Sun-Mi; Park, Young Soo; Lee, Dong Ho



Clinical features of Chinese patients with Huntington's disease carrying CAG repeats beyond 60 within HTT gene.  


Patients with Huntington's disease (HD) carrying CAG repeats beyond 60 are less frequently seen and clinical features of them have been rarely reported. We identified four unrelated patients carrying CAG repeats beyond 60 (84.0?±?13.76, ranging from 74 to 104) from 119 Chinese HD patients via direct sequencing. These four were all early onset with a mean age at presenting symptom of 9.8?±?1.71?years. Paternal transmission was found in three of them and the fourth was apparently sporadic. In addition, they had atypical onset symptoms including epilepsy, intellectual decline, tics and walking instability, which might lead the clinicians to make the wrong diagnosis in the early stage of disease. Our work explores clinical features of Chinese HD patients with an expanded CAG repeat over 60 and may help the clinicians make a correct diagnosis in the early stage of disease. PMID:23398026

Liu, Z-J; Sun, Y-M; Ni, W; Dong, Y; Shi, S-S; Wu, Z-Y



Clinical features and treatment in patients with acute 2,4-dinitrophenol poisoning  

PubMed Central

Objective: To report clinical features and treatment of 16 cases of acute 2,4-dinitrophenol poisoning. Methods: A total of 16 patients suffering from acute poisoning due to non-oral exposure to 2,4-dinitrophenol were sent to our hospital. Two died within 3 h after admission, while the other 14 responded to supportive treatment and hemoperfusion. Clinical features and treatment of the patients were retrospectively analyzed and presented. Results: Fourteen patients recovered and were discharged after four to six weeks of treatment. No obvious poisoning sequelae were found in the three-month follow-up. Conclusions: Non-oral exposure to 2,4-dinitrophenol is toxic. Hemoperfusion and glucocorticoid treatments may be efficient measures to prevent mortality, but this requires further study.

Lu, Yuan-qiang; Jiang, Jiu-kun; Huang, Wei-dong



Genetics of clinical features and subtypes of schizophrenia: a review of the recent literature.  


Since its earliest descriptions, schizophrenia has been thought to be clinically heterogeneous. Symptomatic features and subtypes tend to aggregate in families, suggesting that genetic factors contribute to individual differences in illness presentation. Over the past 5 years, evidence from genetic linkage and association studies has mounted to suggest that some susceptibility genes are etiologic factors for more or less specific illness subtypes. Furthermore, modifier genes may affect clinical features dimensionally only after a given patient is already affected with the illness. In this paper, we review recent findings supporting the existence of such "modifier" genes. To date, DTNBP1 has provided the greatest evidence of illness modification, as associations with negative and cognitive symptoms and worse outcome have been published in independent samples. Future directions include using whole-genome association studies to search for genetic modifiers of schizophrenia. PMID:18474210

Fanous, Ayman H; Kendler, Kenneth S



Cranial dystonia, blepharospasm and hemifacial spasm: clinical features and treatment, including the use of botulinum toxin.  

PubMed Central

Blepharospasm, the most frequent feature of cranial dystonia, and hemifacial spasm are two involuntary movement disorders that affect facial muscles. The cause of blepharospasm and other forms of cranial dystonia is not known. Hemifacial spasm is usually due to compression of the seventh cranial nerve at its exit from the brain stem. Cranial dystonia may result in severe disability. Hemifacial spasm tends to be much less disabling but may cause considerable distress and embarrassment. Patients affected with these disorders are often mistakenly considered to have psychiatric problems. Although the two disorders are quite distinct pathophysiologically, therapy with botulinum toxin has proven very effective in both. We review the clinical features, proposed pathophysiologic features, differential diagnosis and treatment, including the use of botulinum toxin, of cranial dystonia and hemifacial spasm. Images Fig. 2 Fig. 3

Kraft, S P; Lang, A E



A comparison of clinical features among Japanese eating-disordered women with obsessive-compulsive disorder  

Microsoft Academic Search

Clinical features, such as obsessive-compulsive disorder (OCD) symptoms, were investigated in Japanese women with DSM-III-R eating disorders (EDs) and concurrent OCD in comparison to age-matched women with OCD. Sixteen women with restricting anorexia nervosa (AN), 16 with bulimia nervosa (BN), and 16 with both AN and BN (BAN) showed commonality in a more elevated prevalence of OCD symptoms of symmetry

Hisato Matsunaga; Akira Miyata; Yoko Iwasaki; Tokuzo Matsui; Kayo Fujimoto; Nobuo Kiriike



Clinical features and pathological characteristics of amygdala enlargement in mesial temporal lobe epilepsy  

Microsoft Academic Search

Although the hippocampus is considered an important site of seizures in mesial temporal lobe epilepsy (mTLE), the amygdala may also have a significant role. Amygdala enlargement is occasionally found in patients with mTLE, and volumetric detection of amygdala enlargement has been documented in “image-negative” patients with TLE. However, only limited data have been reported on the clinical features, surgical outcomes,

Dong Wook Kim; Sang Kun Lee; Chun Kee Chung; Young-Cho Koh; Geeyoung Choe; So Dug Lim


Demographic, Clinical, and Serologic Features and Survival in Forty-Eight Patients  

Microsoft Academic Search

Objective. To describe the demographic, clinical, and laboratory features and natural history of patients with systemic sclerosis sine scleroderma (ssSSc), and to compare them with those of patients with SSc and limited cutaneous involvement (lcSSc). Methods. The University of Pittsburgh Sclero- derma Databank served as the data source. Patients were divided into those who had no skin thickening (ssSSc) and



Non-accidental subdural haemorrhage in Hong Kong: incidence, clinical features, management and outcome  

Microsoft Academic Search

Objective  We aim to identify the incidence and the characteristics of non-accidental subdural haemorrhage in Hong Kong in children under the age of 5 years.Method  Eighteen children aged below 5 years presented with subdural haemorrhage without a history of significant trauma were studied. Clinical features and the work-up process for probable child abuse were analysed.Results  Sixteen combined case conferences were held, and eleven cases were

David T. F. Sun; X. L. Zhu; W. S. Poon



Hypothalamic-Pituitary-Adrenal Axis Function in Chronic Schizophrenia: Association with Clinical Features  

Microsoft Academic Search

The function of the hypothalamic-pituitary-adrenal axis (HPA-axis) and its association with clinical features in chronic schizophrenia were investigated. Twenty of 33 chronic schizophrenics exhibited an abnormal diurnal variation of the saliva cortisol level. The patients with abnormal diurnal variation gave higher scores for some negative symptoms than those with normal diurnal variation. On the dexamethasone suppression test (DST) of saliva

Motohisa Kaneko; Fujio Yokoyama; Yoshihiko Hoshino; Kenji Takahagi; Shigeo Murata; Makoto Watanabe; Hisashi Kumashiro



Predicting Relapse in Patients With Medulloblastoma by Integrating Evidence From Clinical and Genomic Features  

PubMed Central

Purpose Despite significant progress in the molecular understanding of medulloblastoma, stratification of risk in patients remains a challenge. Focus has shifted from clinical parameters to molecular markers, such as expression of specific genes and selected genomic abnormalities, to improve accuracy of treatment outcome prediction. Here, we show how integration of high-level clinical and genomic features or risk factors, including disease subtype, can yield more comprehensive, accurate, and biologically interpretable prediction models for relapse versus no-relapse classification. We also introduce a novel Bayesian nomogram indicating the amount of evidence that each feature contributes on a patient-by-patient basis. Patients and Methods A Bayesian cumulative log-odds model of outcome was developed from a training cohort of 96 children treated for medulloblastoma, starting with the evidence provided by clinical features of metastasis and histology (model A) and incrementally adding the evidence from gene-expression–derived features representing disease subtype–independent (model B) and disease subtype–dependent (model C) pathways, and finally high-level copy-number genomic abnormalities (model D). The models were validated on an independent test cohort (n = 78). Results On an independent multi-institutional test data set, models A to D attain an area under receiver operating characteristic (au-ROC) curve of 0.73 (95% CI, 0.60 to 0.84), 0.75 (95% CI, 0.64 to 0.86), 0.80 (95% CI, 0.70 to 0.90), and 0.78 (95% CI, 0.68 to 0.88), respectively, for predicting relapse versus no relapse. Conclusion The proposed models C and D outperform the current clinical classification schema (au-ROC, 0.68), our previously published eight-gene outcome signature (au-ROC, 0.71), and several new schemas recently proposed in the literature for medulloblastoma risk stratification.

Tamayo, Pablo; Cho, Yoon-Jae; Tsherniak, Aviad; Greulich, Heidi; Ambrogio, Lauren; Schouten-van Meeteren, Netteke; Zhou, Tianni; Buxton, Allen; Kool, Marcel; Meyerson, Matthew; Pomeroy, Scott L.; Mesirov, Jill P.



Sarcoma obstructing right ventricular cavity: clinical, echocardiographic, haemodynamic and angiographic features.  

PubMed Central

Right atrial hypertension and pericardial effusion developed 2 years after mastectomy for fibrosarcoma. Clinical and echocardiographic features suggested right ventricular tumour. At catheterization the right ventricular cavity was almost obliterated, with an infundibular gradient of 13 mmHg, and biopsy of the mass was attempted. Post-mortem revealed extensive infiltrating and intracavitary right ventricular fibrosarcoma without extracardiac tumour. Images Fig. 1 Fig. 2 Fig. 3

Malcolm, A. D.; Shiu, M. F.; Jenkins, B. S.



Pure red cell aplasia: Clinical features and treatment results in 16 cases  

Microsoft Academic Search

Pure red cell aplasia (PRCA) is a rare hematological disease characterized by selective marrow erythroid aplasia. We report\\u000a the clinical features and treatment results of 16 Chinese patients with PRCA. Nine (56%) cases were not associated with any\\u000a underlying disorders and were considered idiopathic, while seven patients (44%) had associated diseases, three involving the\\u000a thymus, two with T large granular

Y. L. Kwong; K. F. Wong; R. H. S. Liang; Y. C. Chu; L. C. Chan; T. K. Chan



Anaphylaxis in referred pediatric patients: demographic and clinical features, triggers, and therapeutic approach  

Microsoft Academic Search

Anaphylaxis remains under-diagnosed and under-treated. A better knowledge of patterns and triggers of anaphylaxis might contribute\\u000a to a better management. In this study we evaluated the demographic and clinical features of anaphylaxis in pediatric patients,\\u000a as well as its triggers and therapeutic approach. From May 1st 2004 until April 30th 2006 we prospectively collected data\\u000a on all patients referred for

Liliane F. A. De Swert; Dominique Bullens; Marc Raes; Anna-Maria Dermaux



Clinical features of early onset, familial Alzheimer`s disease linked to chromosome 14  

Microsoft Academic Search

Early onset familial Alzheimer`s disease (AD) has an autosomal dominant mode of inheritance. Two genes are responsible for the majority of cases of this subtype of AD. Mutations in the β-amyloid precursor protein (βAPP) gene on chromosome 21 have been shown to completely cosegregate with the disease. We and others have previously described the clinical features of families with βAPP

Michael Mullan; Craig Bennett; Cecilia Figueredo; F. Crawford; Rebecca Mant; Michael Owen; Andrew Warren; Melvin McInnis; Anne Marshall; Peter Lantos; John Collinge; Alison Goate; Henry Houlden



Clinical features and outcomes in patients with non-acoustic cerebellopontine angle tumours  

PubMed Central

OBJECTIVES—Non-acoustic tumours of the cerebellopontine angle differ from vestibular schwannomas in their prevalence, clinical features, operative management, and surgical outcome. These features were studied in patients presenting to the regional neuro-otological unit.?METHODS—A retrospective analysis of clinical notes identified 42 patients with non-acoustic tumours of the cerebellopontine angle. Data were extracted regarding presenting clinical features, histopathological data after surgical resection, surgical morbidity and mortality, and clinical outcome (mean 32 months follow up).?RESULTS—The study group comprised 25 meningiomas (60%), 12 epidermoid cysts/cholesteatomata (28%), and five other tumours. In patients with meningiomas, symptoms differed considerably from patients presenting with vestibular schwannomas. Cerebellar signs were present in 52% and hearing loss in only 68%. Twenty per cent of patients had hydrocephalus at the time of diagnosis. After surgical resection, normal facial nerve function was preserved in 75% of cases. In the epidermoid group, fifth, seventh, and eighth nerve deficits were present in 42%, 33%, and 66% respectively. There were no new postoperative facial palsies. There were two recurrences (17%) requiring reoperation. Overall, there were two perioperative deaths from pneumonia and meningitis.?CONCLUSIONS—Patients with non-acoustic lesions of the cerebellopontine angle often present with different symptoms and signs from those found in patients with schwannomas. Hearing loss is less prevalent and cerebellar signs and facial paresis are more common as presenting features. Hydrocephalus is often present in patients presenting with cerebellopontine angle meningiomas. Non-acoustic tumours can usually be resected with facial nerve preservation.??

Mallucci, C.; Ward, V.; Carney, A; O'Donoghue, G.; Robertson, I.



Soft tissue sarcomas with non-EWS translocations: molecular genetic features and pathologic and clinical correlations  

Microsoft Academic Search

Many soft tissue sarcoma subtypes have consistent chromosomal translocations with novel fusion genes, which result in disordered\\u000a cellular function. The microscopic appearances, immunophenotype and behaviour of such tumours relate to the genetic events\\u000a to a variable extent. This paper reviews the molecular pathology and related morphological and clinical features of sarcomas\\u000a with non-EWS translocations. These include synovial sarcoma, alveolar rhabdomyosarcoma,

Cyril Fisher



Soft tissue sarcomas with non-EWS translocations: molecular genetic features and pathologic and clinical correlations.  


Many soft tissue sarcoma subtypes have consistent chromosomal translocations with novel fusion genes, which result in disordered cellular function. The microscopic appearances, immunophenotype and behaviour of such tumours relate to the genetic events to a variable extent. This paper reviews the molecular pathology and related morphological and clinical features of sarcomas with non-EWS translocations. These include synovial sarcoma, alveolar rhabdomyosarcoma, alveolar soft part sarcoma, dermatofibrosarcoma protuberans, low-grade fibromyxoid sarcoma, infantile fibrosarcoma and inflammatory myofibroblastic tumour. PMID:19396640

Fisher, Cyril



Frontotemporal dementia with the C9ORF72 hexanucleotide repeat expansion: clinical, neuroanatomical and neuropathological features  

PubMed Central

An expanded hexanucleotide repeat in the C9ORF72 gene has recently been identified as a major cause of familial frontotemporal lobar degeneration and motor neuron disease, including cases previously identified as linked to chromosome 9. Here we present a detailed retrospective clinical, neuroimaging and histopathological analysis of a C9ORF72 mutation case series in relation to other forms of genetically determined frontotemporal lobar degeneration ascertained at a specialist centre. Eighteen probands (19 cases in total) were identified, representing 35% of frontotemporal lobar degeneration cases with identified mutations, 36% of cases with clinical evidence of motor neuron disease and 7% of the entire cohort. Thirty-three per cent of these C9ORF72 cases had no identified relevant family history. Families showed wide variation in clinical onset (43–68 years) and duration (1.7–22 years). The most common presenting syndrome (comprising a half of cases) was behavioural variant frontotemporal dementia, however, there was substantial clinical heterogeneity across the C9ORF72 mutation cohort. Sixty per cent of cases developed clinical features consistent with motor neuron disease during the period of follow-up. Anxiety and agitation and memory impairment were prominent features (between a half to two-thirds of cases), and dominant parietal dysfunction was also frequent. Affected individuals showed variable magnetic resonance imaging findings; however, relative to healthy controls, the group as a whole showed extensive thinning of frontal, temporal and parietal cortices, subcortical grey matter atrophy including thalamus and cerebellum and involvement of long intrahemispheric, commissural and corticospinal tracts. The neuroimaging profile of the C9ORF72 expansion was significantly more symmetrical than progranulin mutations with significantly less temporal lobe involvement than microtubule-associated protein tau mutations. Neuropathological examination in six cases with C9ORF72 mutation from the frontotemporal lobar degeneration series identified histomorphological features consistent with either type A or B TAR DNA-binding protein-43 deposition; however, p62-positive (in excess of TAR DNA-binding protein-43 positive) neuronal cytoplasmic inclusions in hippocampus and cerebellum were a consistent feature of these cases, in contrast to the similar frequency of p62 and TAR DNA-binding protein-43 deposition in 53 control cases with frontotemporal lobar degeneration–TAR DNA-binding protein. These findings corroborate the clinical importance of the C9ORF72 mutation in frontotemporal lobar degeneration, delineate phenotypic and neuropathological features that could help to guide genetic testing, and suggest hypotheses for elucidating the neurobiology of a culprit subcortical network.

Mahoney, Colin J.; Beck, Jon; Rohrer, Jonathan D.; Lashley, Tammaryn; Mok, Kin; Shakespeare, Tim; Yeatman, Tom; Warrington, Elizabeth K.; Schott, Jonathan M.; Fox, Nick C.; Rossor, Martin N.; Hardy, John; Collinge, John; Revesz, Tamas; Mead, Simon



Features of computerized clinical decision support systems supportive of nursing practice: a literature review.  


This study aimed to organize the system features of decision support technologies targeted at nursing practice into assessment, problem identification, care plans, implementation, and outcome evaluation. It also aimed to identify the range of the five stage-related sequential decision supports that computerized clinical decision support systems provided. MEDLINE, CINAHL, and EMBASE were searched. A total of 27 studies were reviewed. The system features collected represented the characteristics of each category from patient assessment to outcome evaluation. Several features were common across the reviewed systems. For the sequential decision support, all of the reviewed systems provided decision support in sequence for patient assessment and care plans. Fewer than half of the systems included problem identification. There were only three systems operating in an implementation stage and four systems in outcome evaluation. Consequently, the key steps for sequential decision support functions were initial patient assessment, problem identification, care plan, and outcome evaluation. Providing decision support in such a full scope will effectively help nurses' clinical decision making. By organizing the system features, a comprehensive picture of nursing practice-oriented computerized decision support systems was obtained; however, the development of a guideline for better systems should go beyond the scope of a literature review. PMID:23958964

Lee, Seonah



Difference in clinical features between Japanese and German patients with refractory anemia in myelodysplastic syndromes.  


Several reports indicate that there might be differences in clinical features between Asian and Western myelodysplastic syndrome (MDS) cases. We analyzed refractory anemia (RA) in French-American-British (FAB) classification cases diagnosed in Japan and Germany to perform a more exact comparison between Asian and Western MDS types. In the first step, we analyzed agreement of morphologic diagnosis between Japanese and German hematologists. Blood and bone marrow slides of 129 patients diagnosed with FAB-RA, FAB-RA with ringed sideroblasts (RARS), or aplastic anemia were selected randomly and evaluated separately by each group. The agreements of diagnoses according to FAB and World Health Organization (WHO) classifications were 98.4% and 83.8%, respectively. Second, we compared clinical features between 131 Japanese and 597 German patients with FAB-RA. Japanese patients were significantly younger than German patients. Japanese patients had more severe cytopenias. However, prognosis of Japanese patients was significantly more favorable than that of German patients. Japanese patients had a significantly lower cumulative risk of acute leukemia evolution than did German patients. Frequency of WHO-RA in Japanese patients with FAB-RA was significantly higher than that in German patients. In conclusion, our results indicate that the clinical features of Japanese patients with FAB-RA differ from those of German patients. PMID:15972453

Matsuda, Akira; Germing, Ulrich; Jinnai, Itsuro; Misumi, Motohiro; Kuendgen, Andrea; Knipp, Sabine; Aivado, Manuel; Iwanaga, Masako; Miyazaki, Yasushi; Tsushima, Hideki; Sakai, Mari; Bessho, Masami; Tomonaga, Masao



Risk assessment of renal cortical scarring with urinary tract infection by clinical features and ultrasonography  

PubMed Central

AIMS—To address some of the issues in the ongoing debate over the optimal diagnostic imaging following childhood urinary tract infection (UTI), by determining the risk of missing renal cortical scarring which would be detected on a technetium-99m dimercaptosuccinic acid (DMSA) gold standard if ultrasound alone were used, factoring for clinical features (upper or lower tract), UTI recurrence, and age group (infants, preschool, or school age).?METHODS—Details of UTI clinical features and recurrence were recorded for 990 children with a proven UTI, and their DMSA and ultrasound results were compared for each kidney.?RESULTS—The risks of missing DMSA scarring varied between 0.4% (school age children with solitary lower tract UTI) and 11.1% (infants with recurrent upper tract UTI).?CONCLUSIONS—UTI clinical features are important in assessing the need for DMSA imaging. Current UK imaging guidelines are endorsed, although preschool children with solitary lower tract UTI remain a controversial group and more attention needs to focused on children with recurrent UTI.??

Christian, M; McColl, J; MacKenzie, J; Beattie, T



The prevalence and clinical features of body dysmorphic disorder in college students: A study in a Turkish sample  

Microsoft Academic Search

Body dysmorphic disorder (BDD) consists of a preoccupation with an imagined or slight defect in appearance, which causes significant distress or impairment in functioning. There has been little previous research about the prevalence and clinical features of BDD in different cultures. This study aimed to find the rate and the clinical features of BDD among 420 female college students in

Adnan Cansever; Özcan Uzun; Erkan Dönmez; Aytekin Öz?ahin



Systemic sclerosis: demographic, clinical and serological features in 100 Iranian patients.  


To evaluate demographic, clinical and laboratory features associated with scleroderma-specific auto-antibodies. Sera of 100 patients with systemic sclerosis (SSc) were analyzed by an indirect immunofluorescence technique with HEp-2 cells as a substrate. Specific ANA such as anti-centromere antibodies (ACA), anti-topoisomerase (TOPO), anti-RNA polymerase III (Pol 3), anti-U3-RNP (U3-RNP), anti-Th/To (Th/To) and anti-PM/Scl (PM/Scl) were detected by line immunoassay and anti-U1-RNP (U1-RNP) by ELISA. Frequency of clinical features associated with a specific antibody group was reported cumulatively over the follow-up period. Frequency of specific clinical features was compared across the two disease subtype including limited cutaneous (lcSSc) or diffuse cutaneous (dcSSc) as well as the auto-antibody groups. Ninety-four percent of patients were ANA positive with significant higher skin score, Raynauds and digital ulcer/gangrene. Anti-TOPO was detected in 71% of all patients, in 90.5% of dcSSC and in 65.8% of lcSSc. Anti-TOPO was significantly associated with dcSSc, higher skin score, digital ulcer/gangrene, pulmonary fibrosis, DLCO <70%. U1-RNP antibody was associated with lower fibrosis in lung. ACA was positive in 7% of patients and exclusively in those with lcSSc. We did not find association between gender and presence of auto-antibodies. Anti-TOPO antibody had a high prevalence in contrast to low prevalence of ACA antibody. There were no differences in clinical subtypes of the disease in patients with positive anti-TOPO and positive ACA. Differences in prevalence of auto-antibodies are suggestive of further genetic study. PMID:23344826

Poormoghim, Hadi; Moghadam, Alireza Salek; Moradi-Lakeh, Maziar; Jafarzadeh, Mehrzad; Asadifar, Behnam; Ghelman, Mohsen; Andalib, Elham



Clinical and Dermoscopic Features of 88 Scalp Nevi in 39 Children  

PubMed Central

Summary Background Paediatric scalp nevi may represent a source of anxiety for practitioners and parents, as the clinical and dermoscopic features of typical nevi have yet to be defined. Prompted by concern about the large size, irregular borders, and colour variation of scalp nevi, clinicians and parents may request unnecessary excision of these nevi. Objective The purpose of this study is to establish the typical clinical and dermoscopic patterns of scalp nevi in children younger than 18 years old to help optimize clinical care and management. Methods Scalp nevi were imaged with a camera (Canon Rebel, XSi) and dermoscopic attachment (3Gen, Dermlite Foto, 30mm lens) to the camera. The clinical and dermoscopic images were reviewed and analyzed. Both acquired and congenital scalp nevi were included but were not further differentiated from each other. Results We obtained clinical and dermoscopic images of 88 scalp nevi in 39 Caucasian children. Two subjects had received chronic immunosuppressive medication. Nineteen children have had a family history of melanoma. Males (18/39 subjects, 46%) possessed 68% (60 nevi) of scalp nevi imaged. Younger (<10 years old) subjects (24/39 subjects, 62%) possessed 42% (37 nevi) of scalp nevi. The main clinical patterns included eclipse (n=18), cockade (n=3), solid brown (n=42), and solid pink (n=25) nevi. Solid-coloured nevi showed the following dermoscopic patterns: globular (57%), complex (reticular-globular) (27%), reticular (9%), homogenous (6%), and fibrillar (1%). The majority of nevi had a unifying feature—perifollicular hypopigmentation, which caused the appearance of scalloped, irregular borders if occurring on the periphery, or variegation in pigmentation, if occurring within the nevi. Conclusions Older subjects and males tend to harbour a larger proportion of scalp nevi. The main clinical patterns include solid-coloured and eclipse nevi. The most common dermoscopic pattern of scalp nevi is the globular pattern. Perifollicular hypopigmentation is a hallmark feature of signature scalp nevi. Dermoscopy is a non-invasive tool in the evaluation of cutaneous melanocytic lesions in children and may decrease the number of unnecessary excisions.

Tcheung, W.J.; Bellet, J.S.; Prose, N.S.; Cyr, D.D.; Nelson, K.C.



Feasibility of Feature-based Indexing, Clustering, and Search of Clinical Trials. A Case Study of Breast Cancer Trials from  


Background: When standard therapies fail, clinical trials provide experimental treatment opportunities for patients with drug-resistant illnesses or terminal diseases. Clinical Trials can also provide free treatment and education for individuals who otherwise may not have access to such care. To find relevant clinical trials, patients often search online; however, they often encounter a significant barrier due to the large number of trials and in-effective indexing methods for reducing the trial search space. Objectives: This study explores the feasibility of feature-based indexing, clustering, and search of clinical trials and informs designs to automate these processes. Methods: We decomposed 80 randomly selected stage III breast cancer clinical trials into a vector of eligibility features, which were organized into a hierarchy. We clustered trials based on their eligibility feature similarities. In a simulated search process, manually selected features were used to generate specific eligibility questions to filter trials iteratively. Results: We extracted 1,437 distinct eligibility features and achieved an inter-rater agreement of 0.73 for feature extraction for 37 frequent features occurring in more than 20 trials. Using all the 1,437 features we stratified the 80 trials into six clusters containing trials recruiting similar patients by patient-characteristic features, five clusters by disease-characteristic features, and two clusters by mixed features. Most of the features were mapped to one or more Unified Medical Language System (UMLS) concepts, demonstrating the utility of named entity recognition prior to mapping with the UMLS for automatic feature extraction. Conclusions: It is feasible to develop feature-based indexing and clustering methods for clinical trials to identify trials with similar target populations and to improve trial search efficiency. PMID:23666475

Boland, M R; Miotto, R; Gao, J; Weng, C



Feasibility of feature-based indexing, clustering, and search of clinical trials: A case study of breast cancer trials from  

PubMed Central

Summary Background When standard therapies fail, clinical trials provide experimental treatment opportunities for patients with drug-resistant illnesses or terminal diseases. Clinical Trials can also provide free treatment and education for individuals who otherwise may not have access to such care. To find relevant clinical trials, patients often search online; however, they often encounter a significant barrier due to the large number of trials and in-effective indexing methods for reducing the trial search space. Objectives This study explores the feasibility of feature-based indexing, clustering, and search of clinical trials and informs designs to automate these processes. Methods We decomposed 80 randomly selected stage III breast cancer clinical trials into a vector of eligibility features, which were organized into a hierarchy. We clustered trials based on their eligibility feature similarities. In a simulated search process, manually selected features were used to generate specific eligibility questions to filter trials iteratively. Results We extracted 1,437 distinct eligibility features and achieved an inter-rater agreement of 0.73 for feature extraction for 37 frequent features occurring in more than 20 trials. Using all the 1,437 features we stratified the 80 trials into six clusters containing trials recruiting similar patients by patient-characteristic features, five clusters by disease-characteristic features, and two clusters by mixed features. Most of the features were mapped to one or more Unified Medical Language System (UMLS) concepts, demonstrating the utility of named entity recognition prior to mapping with the UMLS for automatic feature extraction. Conclusions It is feasible to develop feature-based indexing and clustering methods for clinical trials to identify trials with similar target populations and to improve trial search efficiency.

Boland, Mary Regina; Miotto, Riccardo; Gao, Junfeng; Weng, Chunhua



Clinical features and pathological characteristics of amygdala enlargement in mesial temporal lobe epilepsy.  


Although the hippocampus is considered an important site of seizures in mesial temporal lobe epilepsy (mTLE), the amygdala may also have a significant role. Amygdala enlargement is occasionally found in patients with mTLE, and volumetric detection of amygdala enlargement has been documented in "image-negative" patients with TLE. However, only limited data have been reported on the clinical features, surgical outcomes, and pathological characteristics in patients with mTLE with amygdala enlargement. We recruited 12 patients who had undergone surgical treatment for refractory epilepsy with radiological evidence of amygdala enlargement, and 11 became seizure free. All patients showed homogenously increased amygdala volumes on MRI without enhancement and underwent surgical treatment for mTLE. Pathology results revealed that eight patients had focal cortical dysplasia (FCD), two had ganglioglioma, one had oligodendroglioma, and one had astrocytoma. The clinical features and MRI findings were largely indistinguishable between the patients with brain tumors and those with FCD, but the patients with brain tumors tended to be younger at the time of seizure onset. Our study shows that surgical treatment of epilepsy in patients with amygdala enlargement usually has a favorable outcome. FCD was the most frequent pathological diagnosis in these patients. However, a brain tumor should be considered in the differential diagnosis, especially in young patients, because it is often difficult to differentiate FCD from a brain tumor on radiological features. PMID:22321366

Kim, Dong Wook; Lee, Sang Kun; Chung, Chun Kee; Koh, Young-Cho; Choe, Geeyoung; Lim, So Dug



Clinical Features of Severe Malaria Associated with Death: A 13-Year Observational Study in The Gambia  

PubMed Central

Background Severe malaria (SM) is a major cause of death in sub-Saharan Africa. Identification of both specific and sensitive clinical features to predict death is needed to improve clinical management. Methods A 13-year observational study was conducted from 1997 through 2009 of 2,901 children with SM enrolled at the Royal Victoria Teaching Hospital in The Gambia to identify sensitive and specific predictors of poor outcome in Gambian children with severe malaria between the ages 4 months to 14 years. We have measured the sensitivity and specificity of clinical features that predict death or development of neurological sequelae. Findings Impaired consciousness (odds ratio {OR} 4.4 [95% confidence interval {CI}, 2.7–7.3]), respiratory distress (OR 2.4 [95%CI, 1.7–3.2]), hypoglycemia (OR 1.7 [95%CI, 1.2–2.3]), jaundice (OR 1.9 [95%CI, 1.2–2.9]) and renal failure (OR 11.1 [95%CI, 3.3–36.5]) were independently associated with death in children with SM. The clinical features that showed the highest sensitivity and specificity to predict death were respiratory distress (area under the curve 0.63 [95%CI, 0.60–0.65]) and impaired consciousness (AUC 0.61[95%CI, 0.59–0.63]), which were comparable to the ability of hyperlactatemia (blood lactate>5 mM) to predict death (AUC 0.64 [95%CI, 0.55–0.72]). A Blantyre coma score (BCS) of 2 or less had a sensitivity of 74% and specificity of 67% to predict death (AUC 0.70 [95% C.I. 0.68–0.72]), and sensitivity and specificity of 74% and 69%, respectively to predict development of neurological sequelae (AUC 0.72 [95% CI, 0.67–0.76]).The specificity of this BCS threshold to identify children at risk of dying improved in children less than 3 years of age (AUC 0.74, [95% C.I 0.71–0.76]). Conclusion The BCS is a quantitative predictor of death. A BCS of 2 or less is the most sensitive and specific clinical feature to predict death or development of neurological sequelae in children with SM.

Ackerman, Hans; Walther, Brigitte; Walther, Michael; Pinder, Margaret; Sisay-Joof, Fatou; Usen, Stanley; Jallow, Mariatou; Abubakar, Ismaela; Olaosebikan, Rasaq; Jobarteh, Aminata; Conway, David J.; Bojang, Kalifa; Kwiatkowski, Dominic



Association of Systemic Lupus Erythematosus Clinical Features with European Population Genetic Substructure  

PubMed Central

Systemic Lupus Erythematosus (SLE) is an autoimmune disease with a very varied spectrum of clinical manifestations that could be partly determined by genetic factors. We aimed to determine the relationship between prevalence of 11 clinical features and age of disease onset with European population genetic substructure. Data from 1413 patients of European ancestry recruited in nine countries was tested for association with genotypes of top ancestry informative markers. This analysis was done with logistic regression between phenotypes and genotypes or principal components extracted from them. We used a genetic additive model and adjusted for gender and disease duration. Three clinical features showed association with ancestry informative markers: autoantibody production defined as immunologic disorder (P?=?6.8×10?4), oral ulcers (P?=?6.9×10?4) and photosensitivity (P?=?0.002). Immunologic disorder was associated with genotypes more common in Southern European ancestries, whereas the opposite trend was observed for photosensitivity. Oral ulcers were specifically more common in patients of Spanish and Portuguese self-reported ancestry. These results should be taken into account in future research and suggest new hypotheses and possible underlying mechanisms to be investigated. A first hypothesis linking photosensitivity with variation in skin pigmentation is suggested.

Calaza, Manuel; Witte, Torsten; Papasteriades, Chryssa; Marchini, Maurizio; Migliaresi, Sergio; Kovacs, Attila; Ordi-Ros, Josep; Bijl, Marc; Santos, Maria Jose; Ruzickova, Sarka; Pullmann, Rudolf; Carreira, Patricia; Skopouli, Fotini N.; D'Alfonso, Sandra; Sebastiani, Gian Domenico; Suarez, Ana; Blanco, Francisco J.; Gomez-Reino, Juan J.; Gonzalez, Antonio



Childhood Ataxia: Clinical Features, Pathogenesis, Key Unanswered Questions, and Future Directions  

PubMed Central

Childhood ataxia is characterized by impaired balance and coordination primarily due to cerebellar dysfunction. Friedreich ataxia, a form of childhood ataxia, is the most common multisystem autosomal recessive disease. Most of these patients are homozygous for the GAA repeat expansion located on the first intron of the frataxin gene on chromosome 9. Mutations in the frataxin gene impair mitochondrial function, increase reactive oxygen species, and trigger redistribution of iron in the mitochondria and cytosol. Targeted therapies for Friedreich ataxia are undergoing testing. In addition, a centralized database, patient registry, and natural history study have been launched to support clinical trials in Friedreich ataxia. The 2011 Neurobiology of Disease in Children symposium, held in conjunction with the 40th annual Child Neurology Society meeting, aimed to (1) describe clinical features surrounding Friedreich ataxia, including cardiomyopathy and genetics; (2) discuss recent advances in the understanding of the pathogenesis of Friedreich ataxia and developments of clinical trials; (3) review new investigations of characteristic symptoms; (4) establish clinical and biochemical overlaps in neurodegenerative diseases and possible directions for future basic, translational, and clinical studies.

Ashley, Claire N.; Hoang, Kelly D.; Lynch, David R.; Perlman, Susan L.; Maria, Bernard L.



Clinical features of patients with decompensated heart failure after the Great East Japan Earthquake.  


The occurrence of heart failure (HF) and its clinical features after a great disaster have not been rigorously examined. We retrospectively examined the effect of the Great East Japan Earthquake on the occurrence of decompensated HF. The number of patients admitted for treatment of decompensated HF and their clinical features were compared between 2 periods, March 11, 2011 to September 10, 2011 (after the earthquake) and the same period in the previous year. The number of admissions increased from 55 in 2010 to 84 in 2011. A comparison of the clinical features showed that the patients admitted after the earthquake had (1) older age (p = 0.031), (2) greater systolic blood pressure (p = 0.039), (3) a greater incidence of new-onset HF due to valvular heart disease (p = 0.040), (4) interruption of drugs (p = 0.001), (5) a greater incidence of infection (p = 0.019), (6) greater B-type natriuretic peptide (p = 0.005) and C-reactive protein (p = 0.003) levels, (7) a lower estimated glomerular filtration rate (p = 0.048) and lower albumin levels (p = 0.021), and (8) a larger diameter of the inferior vena cava (p = 0.008). In conclusion, these results suggest that the earthquake increased the incidence of HF in association with high blood pressure, interruption of drugs, inflammation, malnutrition, and fluid retention. Taking appropriate measures to control blood pressure, nutritional status, and hygiene environment might decrease the occurrence of HF in future disasters. PMID:23561586

Yamauchi, Hiroyuki; Yoshihisa, Akiomi; Iwaya, Shoji; Owada, Takashi; Sato, Takamasa; Suzuki, Satoshi; Yamaki, Takayoshi; Sugimoto, Koichi; Kunii, Hiroyuki; Nakazato, Kazuhiko; Suzuki, Hitoshi; Saitoh, Shu-ichi; Takeishi, Yasuchika



Parkinsonian single fallers versus recurrent fallers: different fall characteristics and clinical features  

Microsoft Academic Search

The study aimed to compare the fall characteristics between parkinsonian single (P-SF) and recurrent fallers (P-RF), and the\\u000a clinical features among parkinsonian non-fallers (P-NF), P-SF, P-RF and age-matched healthy controls. As many as 72 patients\\u000a with PD and 74 healthy subjects completed the study. Each subject was evaluated for gait speed, timed up-and-go test, one-leg-stance\\u000a test, six-minute walk test, five-times-sit-to-stand

Margaret K. Y. Mak; Marco Y. C. Pang



Mutation of the BTK Gene and Clinical Feature of X-Linked Agammaglobulinemia in Mainland China  

Microsoft Academic Search

Introduction  X-Linked agammaglobulinemia is a prototypical humoral immunodeficiency with the mutation of the Bruton’s tyrosine kinase gene.\\u000a \\u000a \\u000a \\u000a Methods  We investigated the gene mutation and clinical features of 30 Chinese X-linked agammaglobulinemia (XLA) patients from 27 families.\\u000a There were 26 mutations, including 11 novel and 15 recurrent mutations, distributing over the entire gene. The nucleotide\\u000a and amino acid aberration, 1129C>T(H333Y) and 1196T>A(I355N), in

Ying Wang; Hirokazu Kanegane; Xiaochuan Wang; Xiaohua Han; Qian Zhang; Shunying Zhao; Yeheng Yu; Jingyi Wang; Toshio Miyawaki



Differential diagnosis of scrub typhus meningitis from bacterial meningitis using clinical and laboratory features.  


Background: Central nervous system (CNS) involvement in the form of meningitis or meningoencephalitis is common in scrub typhus. As specific laboratory methods remain inadequate or inaccessible in developing countries, prompt diagnosis is often difficult. Aim: To identify the clinical and laboratory parameters that may help in differentiating scrub typhus meningitis from bacterial meningitis. Setting and Design: This is a cross-sectional analysis of adult patients admitted with scrub typhus and bacterial meningitis to a tertiary care teaching institute in South India. Materials and Methods: A comparison of clinical and laboratory features of 25 patients admitted with meningitis to a university teaching hospital during a 15-month period was made. These patients had meningitis diagnosed based on abnormal cerebrospinal fluid (CSF) analysis with either positive IgM scrub typhus ELISA serology (n =16) or with CSF culture isolating bacteria known to cause bacterial meningitis (n =9). The clinical and laboratory features of the patients with scrub typhus meningitis and bacterial meningitis were compared. Results: The mean age was similar in the scrub typhus and bacterial meningitis groups (44.0 ± 18.5 years vs. 46.3 ± 23.0 years). Features at admission predictive of a diagnosis of scrub typhus meningitis were duration of fever at presentation >5 days (8.4 ± 3.5 days vs. 3.3 ± 4.2 days, P < 0.001), CSF white cell count of a lesser magnitude (83.2 ± 83.0 cells/cumm vs. 690.2 + 753.8 cells/cumm, P < 0.001), CSF lymphocyte proportion >50% (83.9 ± 12.5% vs. 24.8 ± 17.5% P < 0.001), and alanine aminotransferase (ALT) elevation more than 60 IU (112.5 ± 80.6 IU vs. 35 ± 21.4 IU, P =0.02). Conclusion: This study suggests that clinical features, including the duration of fever and laboratory parameters such as CSF pleocytosis, CSF lymphocyte proportion >50%, and ALT values are helpful in differentiating scrub typhus from bacterial meningitis. PMID:23466834

Varghese, George M; Mathew, Anoop; Kumar, Sudhir; Abraham, Oriapadickal Cherian; Trowbridge, Paul; Mathai, Elizabeth


Serum pepsinogen I in relation to some clinical features and complications of duodenal ulcer disease.  


Fasting serum pepsinogen 1 was assayed in 60 patients seen at the Kenyatta National Hospital with endoscopy - confirmed active duodenal ulceration. Pepsinogen 1 values were also correlated with some clinical features and complications of this disorder. 54 (90%) of the patients had significantly elevated values when compared with age and sex matched controls. Although elevated values were found in patients with chronic dyspepsia, family history of ulcer dyspepsia, history of gastro-duodenal blood loss and in patients with virulent ulcers, this did not show statistical significance. The possibility of using serum pepsinogen I to identify duodenal ulcer patients and to predict the clinical course and complications of this disorder is discussed. PMID:2743907

Faraj, F J; Lule, G N; Mwai, J S



Primary localized cutaneous amyloidosis with unusual clinical features in a patient with Sjögren's syndrome.  


A 69-year-old woman presented with a 2-year history of an eczematous lesion covering the genital area. Histopathological examination showed deposits of amorphous, eosinophilic material and an infiltrate of plasma cells through the entire dermis into the subcutaneous fatty tissue. Congo red-stained deposits showed apple-green birefringence with polarizing microscopy. On immunohistochemistry, the deposited material was positively stained with anti-lambda light chain antibodies but not with anti-lambda light chain. A diagnosis of primary localized cutaneous amyloidosis (PLCA) was made, and the patient was also diagnosed as having Sjögren's syndrome (SjS) based on clinical and laboratory findings. The lesion of PLCA has spontaneously regressed over a period of 18 months. We report a unique case of PLCA and SjS that clinically demonstrated genital eczematous features and spontaneous involution, and we also describe a possible association between PLCA and SjS. PMID:17535407

Konishi, Asako; Fukuoka, Miyuki; Nishimura, Youichi



Clinical features of bacterial vaginosis in a murine model of vaginal infection with Gardnerella vaginalis.  


Bacterial vaginosis (BV) is a dysbiosis of the vaginal flora characterized by a shift from a Lactobacillus-dominant environment to a polymicrobial mixture including Actinobacteria and gram-negative bacilli. BV is a common vaginal condition in women and is associated with increased risk of sexually transmitted infection and adverse pregnancy outcomes such as preterm birth. Gardnerella vaginalis is one of the most frequently isolated bacterial species in BV. However, there has been much debate in the literature concerning the contribution of G. vaginalis to the etiology of BV, since it is also present in a significant proportion of healthy women. Here we present a new murine vaginal infection model with a clinical isolate of G. vaginalis. Our data demonstrate that this model displays key features used clinically to diagnose BV, including the presence of sialidase activity and exfoliated epithelial cells with adherent bacteria (reminiscent of clue cells). G. vaginalis was capable of ascending uterine infection, which correlated with the degree of vaginal infection and level of vaginal sialidase activity. The host response to G. vaginalis infection was characterized by robust vaginal epithelial cell exfoliation in the absence of histological inflammation. Our analyses of clinical specimens from women with BV revealed a measureable epithelial exfoliation response compared to women with normal flora, a phenotype that, to our knowledge, is measured here for the first time. The results of this study demonstrate that G. vaginalis is sufficient to cause BV phenotypes and suggest that this organism may contribute to BV etiology and associated complications. This is the first time vaginal infection by a BV associated bacterium in an animal has been shown to parallel the human disease with regard to clinical diagnostic features. Future studies with this model should facilitate investigation of important questions regarding BV etiology, pathogenesis and associated complications. PMID:23527214

Gilbert, Nicole M; Lewis, Warren G; Lewis, Amanda L



Clinical Features of Bacterial Vaginosis in a Murine Model of Vaginal Infection with Gardnerella vaginalis  

PubMed Central

Bacterial vaginosis (BV) is a dysbiosis of the vaginal flora characterized by a shift from a Lactobacillus-dominant environment to a polymicrobial mixture including Actinobacteria and Gram-negative bacilli. BV is a common vaginal condition in women and is associated with increased risk of sexually transmitted infection and adverse pregnancy outcomes such as preterm birth. Gardnerella vaginalis is one of the most frequently isolated bacterial species in BV. However, there has been much debate in the literature concerning the contribution of G. vaginalis to the etiology of BV, since it is also present in a significant proportion of healthy women. Here we present a new murine vaginal infection model with a clinical isolate of G. vaginalis. Our data demonstrate that this model displays key features used clinically to diagnose BV, including the presence of sialidase activity and exfoliated epithelial cells with adherent bacteria (reminiscent of clue cells). G. vaginalis was capable of ascending uterine infection, which correlated with the degree of vaginal infection and level of vaginal sialidase activity. The host response to G. vaginalis infection was characterized by robust vaginal epithelial cell exfoliation in the absence of histological inflammation. Our analyses of clinical specimens from women with BV revealed a measureable epithelial exfoliation response compared to women with normal flora, a phenotype that, to our knowledge, is measured here for the first time. The results of this study demonstrate that G. vaginalis is sufficient to cause BV phenotypes and suggest that this organism may contribute to BV etiology and associated complications. This is the first time vaginal infection by a BV associated bacterium in an animal has been shown to parallel the human disease with regard to clinical diagnostic features. Future studies with this model should facilitate investigation of important questions regarding BV etiology, pathogenesis and associated complications.

Gilbert, Nicole M.; Lewis, Warren G.; Lewis, Amanda L.



Clinical features associated with internal carotid artery occlusion do not correlate with MRA cerebropetal flow measurements  

PubMed Central

OBJECTIVES—The aetiology of clinical symptoms in patients with severe internal carotid artery (ICA) lesions may be thromboembolic or haemodynamic. The purpose was to assess whether changes in cerebropetal blood flow caused by an ICA occlusion have an effect on clinical symptoms and cerebral metabolism.?METHODS—Forty three patients with an ICA occlusion who had hemispheric ischaemia (transient ischaemic attack or stroke), retinal ischaemia, or without symptoms, and 34 patients without significant ICA lesions with either hemispheric ischaemia or no symptoms were studied. Magnetic resonance angiography (MRA) was used to investigate total cerebropetal flow (flow in the ICAs plus basilar artery) and the flow in the middle cerebral arteries. Cerebral metabolic changes in the flow territory of the middle cerebral artery were determined with proton MR spectroscopy.?RESULTS—Low total cerebropetal flow (r=?0.15, p<0.05) and low middle cerebral artery flow (r=?0.31, p<0.001) were found in patients with an ICA occlusion, but did not correlate with the clinical syndrome. By contrast, patients with prior symptoms of hemispheric ischaemia had decreased cerebral N-acetylaspartate/choline ratios (r=?0.35, p<0.001). However, the presence of an ICA occlusion (and subsequent low flow) did not correlate with low N-acetylaspartate/choline ratios.?CONCLUSION—Neurological deficit caused by (transient) hemispheric ischaemia is associated with low N-acetylaspartate/choline ratios, whereas prior clinical features are not associated with low cerebropetal blood flow, as measured with MR angiography. As a result, differences in cerebropetal flow cannot explain why patients with similar carotid artery disease experience different neurological features.??

van Everdingen, K J; Kappelle, L; Klijn, C; Mali, W; van der Grond, J



Microvascular Coronary Artery Spasm Presents Distinctive Clinical Features With Endothelial Dysfunction as Nonobstructive Coronary Artery Disease  

PubMed Central

Background Angina without significant stenosis, or nonobstructive coronary artery disease, attracts clinical attention. Microvascular coronary artery spasm (microvascular CAS) can cause nonobstructive coronary artery disease. We investigated the clinical features of microvascular CAS and the therapeutic efficacy of calcium channel blockers. Methods and Results Three hundred seventy consecutive, stable patients with suspected angina presenting nonobstructive coronary arteries (<50% diameter) in coronary angiography were investigated with the intracoronary acetylcholine provocation test, with simultaneous measurements of transcardiac lactate production and of changes in the quantitative coronary blood flow. We diagnosed microvascular CAS according to lactate production and a decrease in coronary blood flow without epicardial vasospasm during the acetylcholine provocation test. We prospectively followed up the patients with calcium channel blockers for microvascular coronary artery disease. We identified 50 patients with microvascular CAS who demonstrated significant impairment of the endothelium-dependent vascular response, which was assessed by coronary blood flow during the acetylcholine provocation test. Administration of isosorbide dinitrate normalized the abnormal coronary flow pattern in the patients with microvascular CAS. Multivariate logistic regression analysis indicated that female sex, a lower body mass index, minor–borderline ischemic electrocardiogram findings at rest, limited–baseline diastolic-to-systolic velocity ratio, and attenuated adenosine triphosphate–induced coronary flow reserve were independently correlated with the presence of microvascular CAS. Receiver-operating characteristics curve analysis revealed that the aforementioned 5-variable model showed good correlation with the presence of microvascular CAS (area under the curve: 0.820). No patients with microvascular CAS treated with calcium channel blockers developed cardiovascular events over 47.8±27.5 months. Conclusions Microvascular CAS causes distinctive clinical features and endothelial dysfunction that are important to recognize as nonobstructive coronary artery disease so that optimal care with calcium channel blockers can be provided. Clinical Trial Registration URL: Unique identifier: UMIN000003839.

Ohba, Keisuke; Sugiyama, Seigo; Sumida, Hitoshi; Nozaki, Toshimitsu; Matsubara, Junichi; Matsuzawa, Yasushi; Konishi, Masaaki; Akiyama, Eiichi; Kurokawa, Hirofumi; Maeda, Hirofumi; Sugamura, Koichi; Nagayoshi, Yasuhiro; Morihisa, Kenji; Sakamoto, Kenji; Tsujita, Kenichi; Yamamoto, Eiichiro; Yamamuro, Megumi; Kojima, Sunao; Kaikita, Koichi; Tayama, Shinji; Hokimoto, Seiji; Matsui, Kunihiko; Sakamoto, Tomohiro; Ogawa, Hisao



Clinical features and axis I comorbidity of Australian adolescent pathological Internet and video game users.  


Objectives:Although there is growing international recognition of pathological technology use (PTU) in adolescence, there has been a paucity of empirical research conducted in Australia. This study was designed to assess the clinical features of pathological video gaming (PVG) and pathological Internet use (PIU) in a normative Australian adolescent population. A secondary objective was to investigate the axis I comorbidities associated with PIU and video gaming.Method:A total of 1287 South Australian secondary school students aged 12-18 years were recruited. Participants were assessed using the PTU checklist, Revised Children's Anxiety and Depression Scale, Social Anxiety Scale for Adolescents, revised UCLA Loneliness Scale, and Teenage Inventory of Social Skills. Adolescents who met the criteria for PVG or PIU or both were compared to normal adolescents in terms of axis I comorbidity.Results:The prevalence rates of PIU and PVG were 6.4% and 1.8%, respectively. A subgroup with co-occurring PIU and PVG was identified (3.3%). The most distinguishing clinical features of PTU were withdrawal, tolerance, lies and secrecy, and conflict. Symptoms of preoccupation, inability to self-limit, and using technology as an escape were commonly reported by adolescents without PTU, and therefore may be less useful as clinical indicators. Depression, panic disorder, and separation anxiety were most prevalent among adolescents with PIU.Conclusions:PTU among Australian adolescents remains an issue warranting clinical concern. These results suggest an emerging trend towards the greater uptake and use of the Internet among female adolescents, with associated PIU. Although there exists an overlap of PTU disorders, adolescents with PIU appear to be at greater risk of axis I comorbidity than adolescents with PVG alone. Further research with an emphasis on validation techniques, such as verified identification of harm, may enable an informed consensus on the definition and diagnosis of PTU. PMID:23719181

King, Daniel L; Delfabbro, Paul H; Zwaans, Tara; Kaptsis, Dean



Histopathological features of the outer membrane of chronic subdural hematoma and correlation with clinical and radiological features.  


We compared the histopathological features of the outer membrane of a chronic subdural hematoma (CSH) with its clinico-radiological presentation in patients. One hundred and fifty-six patients undergoing surgery for CSH were prospectively included in this study. Histopathological specimens of the outer neomembrane obtained intraoperatively were studied. Histological features were classified into four types and analyzed in relation to the Glasgow Coma Scale (GCS) score at presentation and radiological features. On histopathological examination, there were no cases of type I, 42.3% cases of type II and 34.6% cases of type III and 23.1% cases of types IV CSH neomembranes. Patients presenting with a GCS <13 exclusively had type II neomembranes. Increased radiodensity and thickness of the hematoma correlated with type IV neomembranes. This study may serve as an incentive to investigate the histopathology of CSH membranes in predicting outcomes and the recurrence of subdural hemorrhage after drainage surgery. PMID:23916760

Gandhoke, Gurpreet S; Kaif, Mohammad; Choi, Lawrence; Williamson, Richard W; Nakaji, Peter



Clinical, cytologic, and histologic features of a mammary micropapillary carcinoma in a dog.  


Mammary invasive micropapillary carcinoma is a rare variant of mammary carcinoma that was recently recognized in dogs. The cytologic features and biologic behavior of such neoplasms in dogs have not yet been widely discussed in the veterinary literature. We report the clinical, cytologic, and histologic features of a canine micropapillary carcinoma in a 13-year-old female mongrel dog. The mammary region presented with extreme local pain, severe edema and erythema, and multifocal epidermal ulceration, which is typical for an inflammatory mammary carcinoma. Fine-needle aspirates were highly cellular and consisted of individual cells and papillary cell clusters with characteristics of malignant epithelial cells. Histologic examination revealed neoplastic cells arranged in small papillae without fibrovascular cores, sometimes inside clear lymphatic spaces, indicating lymphovascular invasion. Regional lymph node evaluation revealed metastatic cells. Due to deteriorating clinical condition the dog was euthanatized 5 months after mastectomy. At necropsy, metastatic neoplastic mammary cells were found in popliteal and mediastinal lymph nodes, the right femoral biceps muscle, liver, heart, lungs, and urinary bladder. PMID:23919629

Salgado, Breno S; Monteiro, Lidianne N; Colodel, Márcia M; Figueiroa, Fernanda C; Soares, Luisa M; Nonogaki, Suely; Rocha, Rafael M; Rocha, Noeme S



Relationship between childhood adversity and clinical and cognitive features in schizophrenia.  


Childhood adversity is associated with elevated risk for a wide range of adult psychiatric disorders, and has significant and sustained negative effects on adult behavioural and social functioning. Elevated rates of childhood adversity have been reported for people with a diagnosis of schizophrenia. The aim of the present study was to assess rates of retrospectively reported childhood adversity among adults with schizophrenia and to examine the relationship between childhood adversity and clinical and cognitive features. Data were available for 408 schizophrenia participants and 267 healthy control participants recruited through the Australian Schizophrenia Research Bank (ASRB). History of childhood adversity was obtained using the Childhood Adversity Questionnaire (CAQ). A five-factor solution was identified from the CAQ. Schizophrenia participants reported experiencing more childhood adversities than controls. In both groups, those reporting childhood adversity were more likely to be female and older. Among participants with schizophrenia, positive symptom severity and fewer years of education were associated with childhood adversity. Lower IQ scores and personality traits were associated with reporting a greater number of childhood adversities and with adversity sub-types of abusive, neglectful and dysfunctional parenting. The rate of childhood adversity reported in this sample was high which suggests greater exposure to adverse childhood events among participants with schizophrenia in comparison with healthy controls. We identified unique groups amongst CAQ items that provided a salient framework from which to investigate the connection between childhood adversity and clinical and cognitive features. PMID:22329951

McCabe, Kathryn L; Maloney, Elizabeth A; Stain, Helen J; Loughland, Carmel M; Carr, Vaughan J



Clinical spectrum of muscle-eye-brain disease: from the typical presentation to severe autistic features.  


Muscle-eye-brain disease (MEB) is an autosomal recessive congenital muscular dystrophy with ocular abnormalities and type II lissencephaly. MEB is caused by mutations in the protein O-linked mannose beta1,2-N-acetylglucosaminyltransferase (POMGnT1) gene on chromosome 1q33. POMGnT1 is a glycosylation enzyme that participates in the synthesis of O-mannosyl glycan. The disease is characterized by altered glycosylation of alpha-dystroglycan. The clinical spectrum of MEB phenotype and POMGnT1 mutations are significantly expanded. We would like to present two cases with MEB disease with POMGnT1 mutations, whose clinical picture shows heterogeneity. The patient with R442H mutation had the classical form of the disease although the one with IVS17-2A-->G homozygous mutation had severe autistic features as the dominating presenting sign. These two cases represent different spectrums of one disorder. To the best of our knowledge, autistic features and stereotypical movements have not been included thus far as a part of broad and heterogeneous MEB spectrum. PMID:15938569

Haliloglu, G; Gross, C; Senbil, N; Talim, B; Hehr, U; Uyanik, G; Winkler, J; Topaloglu, H



Clinical features and molecular analysis of seven British kindreds with hereditary hyperferritinaemia cataract syndrome.  


Hereditary hyperferritinaemia cataract syndrome (HHCS) is an autosomal dominant disorder characterised by early onset cataracts and increased serum L-ferritin concentration. Affected individuals show nucleotide substitutions in the region of the L-ferritin gene (FTL) that encodes a regulatory sequence within the (mRNA)FTL termed the iron responsive element (IRE). We report the clinical features of seven HHCS kindreds containing 49 individuals with premature cataract. All the probands received diagnoses of HHCS after the incidental discovery of increased serum L-ferritin concentration (median 1420 microg/l; normal range 15-360 microg/l), in most cases during investigation or screening for anaemia. All the probands developed characteristic 'sunflower' morphology cataracts in childhood (median age at diagnosis 5 years), but had no other phenotypic features. All the affected kindreds showed nucleotide substitutions in FTL that were predicted to disrupt function of the (mRNA)FTL IRE. The severity of the clinical phenotype of HHCS was variable both within and between kindreds and showed no clear relationship to FTL genotype. HHCS should be included in the differential diagnosis of hyperferritinaemia and should be carefully distinguished from hereditary haemochromatosis. Measurement of the serum L-ferritin concentration should be included in the investigation of all individuals with early onset cataracts. PMID:15280904

Lachlan, Katherine L; Temple, I Karen; Mumford, Andrew D



Cervical carotid artery disease in sickle cell anemia: clinical and radiological features.  


Cervical internal carotid artery (cICA) occlusion is a recognized cause of acute ischemic stroke (AIS) in sickle cell disease (SCD), but the associated clinical and radiologic features are not well described. We reviewed data on cervical magnetic resonance angiography (cMRA) performed prospectively in 67 patients (55 children) for indications including transcranial Doppler (TCD) abnormalities, AIS, or previous AIS. cICA lesions were seen in 10 (15%) patients, including 4 of 7 patients presenting with AIS, and appear to have been missed on first presentation in 4 of 10 patients with previous AIS. Radiologic features in 7 patients were consistent with dissection. In 2 patients, there was strong clinical and radiologic evidence for thromboembolic AIS, and this was also considered possible in 4 other patients. Three of the 4 AIS patients were anticoagulated acutely, and the nontreated patient had recurrent, probably thromboembolic, AIS. TCD findings were variable, but in 4 patients there were high velocities in the cerebral vessels contralateral to the cICA stenosis. We suggest that all patients with AIS should have cMRA during acute evaluation to identify cICA occlusions that may require anticoagulation. Routine screening of children with SCD should also include evaluation of neck vessels by carotid Doppler followed by cMRA if a cervical vascular lesion is suspected. PMID:21885600

Telfer, Paul T; Evanson, Jane; Butler, Paul; Hemmaway, Claire; Abdulla, Chenya; Gadong, Nimze; Whitmarsh, Simon; Kaya, Banu; Kirkham, Fenella J



Severe myoclonic epilepsy of infancy (Dravet syndrome): Clinical and genetic features of nine Turkish patients  

PubMed Central

Purpose: Mutations of the ?-1 subunit sodium channel gene (SCN1A) cause severe myoclonic epilepsy of infancy (SMEI). To date, over 300 mutations related to SMEI have been described. In the present study, we report new SCN1A mutations and the clinical features of SMEI cases. Materials and Methods: We studied the clinical and genetic features of nine patients diagnosed with SMEI at the Pediatric Neurology Department of Istanbul Medical Faculty. Results: Five patients had nonsense mutations, two had missense mutations, one had a splice site mutation and one had a deletion mutation of the SCN1A gene. Mutations at c.3705+5G splice site, p.trip153X nonsense mutation and deletion at c.2416_2946 have not been previously described. The seizures started following whole cell pertussis vaccination in all patients. The seizures ceased in one patient and continued in the other eight patients. Developmental regression was severe in three patients, with frequent status epilepticus. The type of mutation was not predictive for the severity of the disease. Two of the three patients with severe regression had nonsense and missense mutations. Conclusions: Dravet syndrome can be result of several different types of mutation in SCN1A gene. Onset of the seizures after pertussis vaccination is an important clue for the diagnosis and neuro- developmental delay should be expected in all patients.

Ozmen, Meral; Dilber, Cengiz; Tatl?, Burak; Ayd?nl?, Nur; Cal?skan, Mine; Ekici, Bar?s



Clinical features of the pre-ictal state: mood changes and premonitory symptoms.  


Identifying the pre-ictal state clinically would improve our understanding of seizure onset and suggest opportunities for new treatments. In our previous paper-diary study, increased stress and less sleep predicted seizures. Utilizing electronic diaries, we expanded this investigation. Variables were identified by their association with subsequent seizure using logit-normal random effects models fit by maximum likelihood. Nineteen subjects with localization-related epilepsy kept e-diaries for 12-14 weeks and reported 244 eligible seizures. In univariate models, several mood items and ten premonitory features were associated with increased odds of seizure over 12h. In multivariate models, a 10-point improvement in total mood decreased seizure risk by 25% (OR 0.75, CI 0.61-0.91, p=004) while each additional significant premonitory feature increased seizure risk by nearly 25% (OR 1.24, CI 1.13-1.35, p<001) over 12h. Pre-ictal changes in mood and premonitory features may predict seizure occurrence and suggest a role for behavioral intervention and pre-emptive therapy in epilepsy. PMID:22424857

Haut, Sheryl R; Hall, Charles B; Borkowski, Thomas; Tennen, Howard; Lipton, Richard B



Clinical implications of the morphological features of central pulmonary artery thromboemboli shown by transoesophageal echocardiography.  

PubMed Central

OBJECTIVES--To illustrate the use of transoesophageal echocardiography in the detection of the morphological features of central pulmonary artery thromboemboli and their clinical implications. DESIGN--Review of five cases of central pulmonary artery thromboemboli detected by transoesophageal echocardiography. SETTING--University teaching hospital. PATIENTS--Five patients (three men and two women) admitted under general medical units. RESULTS--Central pulmonary artery thromboemboli were detected by the use of transoesophageal echocardiography in all the patients presented. Presentations were acute, subacute, or chronic. The morphological features of the thromboemboli on transoesophageal echocardiography were used to correlate with the time course of the illness, and to guide treatment. Two patients received thrombolytic treatment, one patient was treated with anticoagulation alone, and two patients had inferior vena caval filters implanted. CONCLUSIONS--Transoesophageal echocardiography is an alternative diagnostic tool in the detection of central pulmonary artery thromboemboli. Morphological features of central pulmonary thromboemboli on echocardiography can provide useful information that may help to guide treatment. Images

Chan, R K; Johns, J A; Calafiore, P



Association of Fluorescein Angiographic Features with Visual Acuity and with Optical Coherence Tomographic and Stereoscopic Color Fundus Photographic Features of Diabetic Macular Edema in a Randomized Clinical Trial  

PubMed Central

Background Fluorescein angiography (FA) has been performed as part of the management of diabetic macular edema (DME) for many years. Its current role relative to the role of optical coherence tomography (OCT) is not well defined. Purpose To evaluate the associations of FA features with visual acuity, and with OCT, and fundus photographic characteristics in eyes with DME. Methods In a clinical trial, conducted by the Diabetic Retinopathy Clinical Research Network to compare two methods of laser photocoagulation to treat DME, FA (film and digital), color photographs, OCT, and visual acuity measurements were obtained at baseline and at 1 year. Grading of morphologic features was performed at a reading center. Reproducibility of FAs was assessed and the correlations of FA features with visual acuity, OCT, and color photograph features were computed. Results From 79 clinical sites, data of 323 study eyes and 203 fellow non-study eyes were analyzed. Fluorescein leakage area at baseline was associated with reduced visual acuity, increased OCT measures of retinal thickness and volume, and color photographic measurements of retinal thickening (r = 0.33 – 0.58). No important associations were found with changes from baseline to 12 months in these parameters or with any of the other variables analyzed. Conclusions Fluorescein leakage is associated with visual acuity and some OCT and color photographic variables. We did not identify any unique FA variables that had a stronger association with visual acuity than OCT measures of retinal thickness. These data may be useful to investigators planning future DME clinical trials.

Danis, Ronald P.; Scott, Ingrid U.; Qin, Haijing; Altaweel, Michael M.; Bressler, Neil M.; Bressler, Susan B.; Browning, David J.; Kollman, Craig



Clinical features and pitfalls in the laboratory diagnosis of dengue in travellers  

PubMed Central

Background Several enzyme-linked immunosorbent assay (ELISA)-kits are commercially available for the rapid diagnosis of dengue infection, and have demonstrated good sensitivity and specificity in paired serum samples. In practice, however, often only one blood sample is available from febrile travellers returning from dengue endemic areas. Methods To evaluate the diagnostic value of positive dengue antibody-titres performed by a standard ELISA (PanBio IgM- and IgG-ELISA) in single serum samples (regarded as "probable infection"), 127 positive samples were further analyzed using envelope/membrane IgM-, and nonstructural protein 1 IgM- and IgG-ELISAs, immunofluorescence assays, and real-time reverse transcription polymerase chain reaction assays (RT-PCR). A combination of the test-results served as the diagnostic "gold standard". A total of 1,035 febrile travellers returning from dengue-endemic countries with negative dengue-serology and RT-PCR served as controls to compare clinical and haematological features. Results Overall, only 64 (positive predictive value = 50%) of the probable cases were confirmed by additional analysis and 54 (42.5%) were confirmed to be "false-positive". Rash was the only clinical feature significantly associated with confirmed dengue fever. The combination of thrombocytopenia and leucopenia was present in 40.4% of confirmed and in 6.1% of false-positive cases. Thus, the positive predictive value for the combination of positive PanBio-ELISA plus the two haematological features was 90.5%. Conclusion The examination of paired serum samples is considered the most reliable serodiagnostic procedure for dengue. However, if only one blood sample is available, a single positive ELISA-result carries a high rate of false-positivity and should be confirmed using a second and more specific diagnostic technique. In the absence of further testing, platelet and white blood cell counts are helpful for the correct interpretation.

Wichmann, Ole; Stark, Klaus; Shu, Pei-Yun; Niedrig, Matthias; Frank, Christina; Huang, Jyh-Hsiung; Jelinek, Tomas



Clinical, immunogenetic and outcome features of Hispanic systemic lupus erythematosus patients of different ethnic ancestry.  


The aim of this study was to compare and contrast the clinical, immunogenetic and outcome features of two subgroups of Hispanic patients with systemic lupus erythematosus (SLE), one from Northern Spain (Spaniards) and one of from the USA (Hispano-Americans: Hispanics primarily of Mexican ancestry (Amerindian and Spaniard backgrounds). Patients with SLE as per the American College of Rheumatology classification criteria, from two University-affiliated Hospitals (Universidad de Cantabria) and disease of five or less years in duration (n = 28) and with four years of follow up constituted the Spaniard subgroup. Fifty-two patients of Hispano-American ancestry from the LUMINA (Lupus in Minority populations: Nature versus Nurture) cohort constituted the Hispano-American subgroup. Patients were studied using a similar protocol. In short, sociodemographic, clinical, immunological, immunogenetic and psychosocial and behavioral features were obtained at enrollment into the study (baseline visit) and yearly thereafter. The relationship between these variables and disease activity at baseline and over time, as measured by the systemic lupus activity measure (SLAM) and disease damage, as measured by the SLICC (Systemic Lupus International Collaborating Clinics) Damage Index (SDI) were determined. Variables found to be significant at P = 0.10 were then entered into multivariable linear regression models with disease activity at baseline and over time, and damage as the outcome measures. Patients of Hispano-American and Spaniard ethnicity had comparable sociodemographic features except for home density, which was higher among the Hispano-Americans. HLA-DRB1*08 was associated with SLE among the Hispano-Americans but not among the Spaniards. Hispano-American patients had more severe disease as manifested by more frequent clinical manifestations (renal and neurological), higher SLAM scores at baseline and over time and higher SDI scores at the year 4 visit (that despite the fact that Hispano-American patients had overall shorter disease duration than the Spaniard patients). Hispano-American ethnicity, younger age at disease onset and the number of ACR criteria at baseline and over time were consistently associated with disease activity, whereas increased home density and the absence of HLA-DRB1*0301 were significant predictors only over time. Disease damage was associated with disease activity over time, the number of ACR criteria at baseline, increased home density and the presence of HLA-DRB1*08. This is the first longitudinal study of SLE in two different Hispanic subgroups. Hispanics with a strong Amerindian background have a more serious disease than that observed in Spaniards. Genetic and socio-economic differences between these two Hispanic subgroups probably account for these findings. PMID:12765301

Calvo-Alén, J; Reveille, J D; Rodríguez-Valverde, V; McGwin, G; Baethge, B A; Friedman, A W; Alarcón, G S



Comparing patients with Apert and Crouzon syndromes--clinical features and cranio-maxillofacial surgical reconstruction.  


Cranio-maxillofacial malformations, as seen in Crouzon and Apert syndromes, may impose an immense distress on both function and aesthetics of the person affected. The aims of this study were to describe and compare the main facial and intraoral features of patients with Apert and Crouzon syndromes, the clinical manifestations that may be present, additionally to the main syndromic traits, as well as the cranio-maxillofacial surgical treatment protocols followed.Twenty-three patients with Apert syndrome (6 males, 17 females), and 28 patients with Crouzon syndrome (20 males, 8 females) were evaluated for general medical aspects, craniofacial characteristics, dentoalveolar traits before and after the final orthognathic surgery, and types and timing of cranio-maxillofacial operations. Mental retardation, associated additional malformations, cleft palate, and extensive lateral palatal soft tissue swellings were more common in children with Apert syndrome. In both syndromes, clinical findings included concave profile, negative overjet, posterior crossbites, anterior openbite, and dental midline deviation, which were corrected in almost all cases with the final orthognathic surgery, with the exception of the lateral crossbites, including more than one tooth pair, which were persisting in about half of the cases. Cranial vault decompression and/or reshaping, midfacial and orbital advancement procedures, often in conjunction with a mandibular setback, were the most frequent cranio-maxillofacial operations performed. In conclusion, Apert syndrome is more asymmetric in nature and a more severe clinical entity than Crouzon syndrome. The syndromic dentofacial features of both conditions could be significantly improved after a series of surgical procedures in almost all cases with the exception of the posterior crossbites, with haIf of them persisting post-surgically. PMID:22611902

Stavropoulos, Dimitrios; Tarnow, Peter; Mohlin, Bengt; Kahnberg, Karl-Erik; Hagberg, Catharina



T cell transcriptional factors in allergic rhinitis and its association with clinical features  

PubMed Central

Background Th2 cells are crucially important in allergic disease and the possible involvement of Treg and Th17 cells has not been clearly identified. Objective To identify the mRNA expression of T cell transcription factors in nasal mucosa in patients with allergic rhinitis (AR) and to reveal their correlations with clinical features. Methods Eighteen patients with AR and 12 controls with turbinate hypertrophy were included. mRNA expression of the following transcriptional factors in nasal mucosa were measured by quantitative polymerase chain reaction; T-bet (Th1), GATA3 (Th2), retinoic acid-related orphan receptor C (RORC; Th17), and forkhead box P3 (Foxp3; Treg). mRNA expression was compared among groups and correlation between mRNA expression level and clinical features (rhinitis symptoms, eosinophil count, and IgE) were also investigated. Results GATA3 and RORC were significantly increased and Foxp3 was significantly decreased in the AR group. Moderate-to-severe AR group also had increased expression of GATA3 and RORC than mild AR group, suggesting severity of AR influence expression of transcription factors. Correlation analysis showed that none of these transcription factors were associated with severity of clinical symptoms, eosinophil counts and skin prick test severity and that IgE level was significantly correlated with expression level of GATA3 and RORC, suggesting an association of IgE production with Th2 and Th17 cells. Conclusion Increased mRNA expression of GATA3 (Th2), increased expression of RORC and decreased expression of Foxp3 may be important in pathogenesis of AR. GATA3 and RORC may be closed related with IgE level.

Chung, Young-Jun; Kim, Ji Hye



PEA15 impairs cell migration and correlates with clinical features predicting good prognosis in neuroblastoma  

PubMed Central

ERK and RSK2 drive proliferation and invasion of many cancers. Phosphoprotein Enriched in Astrocytes 15 (PEA15) binds ERK and RSK2 and high PEA15 levels can impair ERK- and RSK2-dependent transcription. PEA15 expression also inversely correlates with cell motility and invasiveness. We therefore tested PEA15 effects on neuroblastoma cells in vitro. We further analyzed PEA15 expression in the context of clinical and genetic features of neuroblastoma in tumor samples to determine its correlation with disease progression. Affymetrix microarray analysis was performed using 24 different neuroblastoma cell lines. Cell lines expressing low to intermediate levels of PEA15 were chosen for in vitro functional studies. The cell line results were verified by Affymetrix analysis of 3 different neuroblastic tumor types (total of 110 samples) PEA15 overexpression inhibited neuroblastoma migration in vitro. We verified that inhibition of motility required PEA15 interaction with its binding partners ERK and RSK2. Additionally, synthetic inhibitors of RSK2 suppressed integrin-dependent migration. PEA15 expression correlates with clinical parameters and a 25% increase in patient survival rate. The highest PEA15 levels were found in low stage, more differentiated and less metastatic neuroblastic tumors, and correlated with lack of MYCN amplification. PEA15 blocks neuroblastoma migration through inhibition of ERK/RSK2 signaling. PEA15 expression levels correlate with favorable clinical features suggesting that PEA15 limits metastatic progression of neuroblastoma. Thus, PEA15 and its partners ERK and RSK2 are potential targets for the development of new therapeutics to impede progression of minimal residual disease in patients with high-risk neuroblastoma.

Gawecka, Joanna E.; Geerts, Dirk; Koster, Jan; Caliva, Maisel J.; Sulzmaier, Florian J.; Opoku-Ansah, John; Wada, Randal K.; Bachmann, Andre S.; Ramos, Joe W.



Genetic variants in the NOTCH4 gene influence the clinical features of migraine  

PubMed Central

Background Recent studies suggested an important role for vascular factors in migraine etiopathogenesis. Notch4 belongs to a family of transmembrane receptors that play an important role in vascular development and maintenance. The aim of this study was to test the hypothesis that polymorphisms of the NOTCH4 gene would modify the occurrence and the clinical features of migraine. Findings Using a case–control strategy, we genotyped 239 migraine patients and 264 controls for three different non-synonymous polymorphisms (T320A, G835V, R1346P) of the NOTCH4 gene and for the (CTG) n-encoding polyleucine polymorphism in exon 1. Although the analyzed polymorphisms resulted not associated with migraine, the clinical characteristics of our patients were significantly influenced by the different NOTCH4 genotypes. Longer duration of disease and severity of neurovegetative symptoms during headache attacks were associated with the R1346P and G835V polymorphisms, respectively. In female patients, worsening of migraine symptoms at menarche was significantly correlated with T320A polymorphism. Conclusions Our study shows that genetic variations within the NOTCH4 gene significantly modify the clinical characteristics of migraine and may have a role in disease pathogenesis.



Isolated middle cerebral artery disease: clinical and neuroradiological features depending on the pathogenesis  

PubMed Central

Background: Isolated atherosclerotic middle cerebral artery (MCA) disease is often difficult to differentiate from cardioembolic disease if intracranial atherosclerosis coexists with cardiac disease. Objectives: To evaluate whether clinical and neuroradiological features of isolated MCA disease differ according to the underlying aetiology. Methods: Isolated MCA disease was defined as a unilateral angiographically occlusive lesion of the MCA on the symptomatic side without lesions of other intracranial or extracranial vessels. Patients with isolated MCA disease were divided into atherosclerotic and potentially cardioembolic, and the clinical, laboratory, and neuroradiological data analysed. Results: Among the 850 consecutive patients with acute ischaemic stroke or transient ischaemic attack, 107 (12.6%) met the criteria for isolated MCA disease (76 with atherosclerotic disease and 31 with a potential source of cardiac embolism). Total anterior circulation infarcts were more common and baseline NIHSS score was higher in potentially embolic occlusions than in atherosclerotic disease (each p<0.001). While cortical infarcts and territorial infarcts were more common in the potential embolism group (p = 0.028 and p<0.001, respectively), subcortical border zone infarcts were more common in the atherosclerotic group (p<0.001). Multiple regression analysis showed that border zone infarcts and mild stroke were independently associated with atherosclerotic MCA disease, while territorial and cortical infarcts were associated with potential cardiac embolic disease. Conclusions: Clinical and neuroradiological characteristics can differentiate isolated atherosclerotic MCA disease from MCA disease associated with potential sources of cardiac embolism, and may reflect the differences in underlying pathogenesis.

Lee, P; Oh, S; Bang, O; Joo, I; Huh, K



Clinical and Microbiological Features of Inquilinus sp. Isolates from Five Patients with Cystic Fibrosis  

PubMed Central

Patients with cystic fibrosis (CF) may be colonized with unusual gram-negative bacilli whose identification is difficult and clinical impact unclear. We describe the clinical and microbiological features of five colonizations with organisms belonging to the recently described genus Inquilinus in CF patients. Isolates were identified from Burkholderia cepacia selective medium by means of 16S rRNA analysis. All of them were resistant to colistin, penicillins, cephalosporins, and monobactams but exhibited a remarkable susceptibility to imipenem. One of the five patients was transiently colonized with a nonmucoid isolate, whereas the four other patients were persistently colonized over the period of follow-up (8 to 21 months) with mucoid isolates. Pulsed-field gel electrophoresis of SpeI-digested genomic DNA was powerful for strain genotyping and demonstrated the clonality of Inquilinus sp. colonization for the two patients tested. Clinical evolution after the onset of Inquilinus was heterogeneous, but for at least one patient the lung function worsened and eradication of Inquilinus sp. was unsuccessful despite several imipenem courses. Finally, Inquilinus spp. may represent a new threat for CF patients due to their mucoid characteristic, their multiresistant pattern to antibiotics, and their ability to persist in the respiratory tract.

Chiron, Raphael; Marchandin, Helene; Counil, Francois; Jumas-Bilak, Estelle; Freydiere, Anne-Marie; Bellon, Gabriel; Husson, Marie-Odile; Turck, Dominique; Bremont, Francois; Chabanon, Gerard; Segonds, Christine



Presenting Clinical Features and C-Reactive Protein in the Prediction of a Positive Stool Culture in Patients with Diarrhoea  

Microsoft Academic Search

Objectives: To devise a scoring system by which clinical features and C-reactive protein (CRP) can be used to predict a positive stool culture in patients admitted with acute diarrhoea.Methods: One hundred and thirty-two patients admitted to the Regional Infection Unit with diarrhoea thought to be due to bacterial gastroenteritis were included. Clinical features, CRP and outcome of stool culture were

A. M Cadwgan; W. A Watson; R. B. S Laing; A. R MacKenzie; C. C Smith; J. G Douglas



Knowledge of causes, clinical features and diagnosis of common zoonoses among medical practitioners in Tanzania  

PubMed Central

Background Many factors have been mentioned as contributing to under-diagnosis and under-reporting of zoonotic diseases particularly in the sub-Sahara African region. These include poor disease surveillance coverage, poor diagnostic capacity, the geographical distribution of those most affected and lack of clear strategies to address the plight of zoonotic diseases. The current study investigates the knowledge of medical practitioners of zoonotic diseases as a potential contributing factor to their under-diagnosis and hence under-reporting. Methods The study was designed as a cross-sectional survey. Semi-structured open-ended questionnaire was administered to medical practitioners to establish the knowledge of anthrax, rabies, brucellosis, trypanosomiasis, echinococcosis and bovine tuberculosis in selected health facilities within urban and rural settings in Tanzania between April and May 2005. Frequency data were analyzed using likelihood ratio chi-square in Minitab version 14 to compare practitioners' knowledge of transmission, clinical features and diagnosis of the zoonoses in the two settings. For each analysis, likelihood ratio chi-square p-value of less than 0.05 was considered to be significant. Fisher's exact test was used where expected results were less than five. Results Medical practitioners in rural health facilities had poor knowledge of transmission of sleeping sickness and clinical features of anthrax and rabies in humans compared to their urban counterparts. In both areas the practitioners had poor knowledge of how echinococcosis is transmitted to humans, clinical features of echinococcosis in humans, and diagnosis of bovine tuberculosis in humans. Conclusion Knowledge of medical practitioners of zoonotic diseases could be a contributing factor to their under-diagnosis and under-reporting in Tanzania. Refresher courses on zoonotic diseases should be conducted particularly to practitioners in rural areas. More emphasis should be put on zoonotic diseases in teaching curricula of medical practitioners' training institutions in Tanzania to improve the diagnosis, reporting and control of zoonotic diseases. Veterinary and medical collaboration should be strengthened to enable more effective control of zoonotic diseases in Tanzania.

John, Kunda; Kazwala, Rudovic; Mfinanga, Godfrey S



PCDH19-related female-limited epilepsy: further details regarding early clinical features and therapeutic efficacy.  


Abnormalities in the protocadherin 19 (PCDH19) gene cause early-onset epilepsy exclusively in females. We aimed to explore the genetic and clinical characteristics of PCDH19-related epilepsy by focusing on its early features and treatment efficacy. PCDH19 was analyzed in 159 Japanese female patients with early-onset epilepsy via direct sequencing and multiplex ligation-dependent probe amplification (MLPA) analysis. We identified 17 patients with PCDH19 abnormalities: point mutations were observed in 14 patients and whole PCDH19 deletions were detected in 3 patients. One affected sister of a proband with a mild phenotype was also analyzed. The frequency of PCDH19 deletion among all probands identified in Japan was 12.5% (3/24, including 7 probands reported previously by us). Clinical features included early onset (mean age at onset, 8.6 months), recurrent clusters of brief seizures (17/18), fever sensitivity (18/18), tonic seizures (13/18, probably including focal tonic seizures), tonic-clonic seizures (8/18), focal seizures often with subsequent generalization (17/18), intellectual disabilities (15/18), and autistic traits (13/18). Three patients exhibited delay in motor milestones before seizure onset. In 16 patients, seizures appeared in clusters from the onset of the disease. Among 6 patients for whom detailed information at onset was available, 2 onset patterns were identified: a biphasic course of short seizure clusters (each within days) in 2 patients and a prolonged course of clusters (from weeks to a month) in 4 patients. In both cases, initial seizures started during fever and transiently disappeared with the decline of fever; however, afebrile clusters recurred. In the former patients, motor development was delayed before onset, and seizures appeared in strong clusters from the onset of the disease. In the latter patients, initial development was normal and initial seizures were mild, but were followed by strong clusters lasting several weeks, even without fever. Treatment using phenytoin, potassium bromide, and clobazam showed high efficacy. Although focal seizures were the main feature in PCDH19-epilepsy, the efficacy of carbamazepine was poor. This study highlighted the significance of PCDH19 deletion, a unique pattern of initial seizure clusters, and the efficacy of antiepileptic drugs. Our data will facilitate early diagnosis and development of a treatment strategy for better clinical management of patients with PCDH19-related epilepsy. PMID:23712037

Higurashi, Norimichi; Nakamura, Mai; Sugai, Misaki; Ohfu, Masaharu; Sakauchi, Masako; Sugawara, Yuji; Nakamura, Kazuyuki; Kato, Mitsuhiro; Usui, Daisuke; Mogami, Yukiko; Fujiwara, Yumi; Ito, Tomoshiro; Ikeda, Hiroko; Imai, Katsumi; Takahashi, Yukitoshi; Nukui, Megumi; Inoue, Takeshi; Okazaki, Shin; Kirino, Tomoko; Tomonoh, Yuko; Inoue, Takahito; Takano, Kyoko; Shimakawa, Shuichi; Hirose, Shinichi



MelaFind is indicated for the evaluation of clinically atypical ...  

Center for Biologics Evaluation and Research (CBER)

Text Version... The lesion is located on or near an area of visible scarring; or • The lesion contains foreign matter (eg, tattoo, splinter, marker). More results from


Epiploic appendagitis: a case report highlighting correlation between clinical features, computed tomography images and laparoscopic findings.  


We present a case of a 72 year old male patient, who presented to the emergency department with a 2 day history of right iliac fossa pain. On examination he was apyrexial and haemodynamically stable, yet displayed signs of right iliac fossa peritonism. Inflammatory markers were mildly raised. Computed tomography and diagnostic laparoscopy both demonstrated typical features of epiploic appendagitis. Epiploic appendagitis is an uncommon cause of the acute abdomen, yet is probably underdiagnosed. The term was first used by Lynn et al. in the mid 1950s. With the increase in CT scanning and diagnostic laparoscopy, we feel that both surgeons and radiologists need to be increasingly aware of the clinical and radiological appearances of epiploic appendagitis. PMID:20457285

Bunni, J; Corrigan, A; Jacob, K; Schuijtvlot, M



Cutaneous leukocytoclastic vasculitis: clinical and laboratory features of 45 patients seen in Ramathibodi Hospital.  


Forty-five patients with histologically proved cutaneous leukocytoclastic vasculitis were studied with regard to the clinical features, laboratory findings and etiology. There were 12 males and 33 females, with an age range of 13 to 64 years. The most common skin lesions were palpable purpura which appeared mostly on the lower part of the legs. Renal involvement was the most common systemic manifestation, which occurred in 45 per cent of the patients. Abdominal pain occurred in 42 per cent of the male patients while none of the female patients had this symptom. Arthralgia occurred in 20 per cent of the patients. The most common laboratory abnormalities were elevation of ESR, which was significantly more common in females than in males (P = 0.047). The possible etiology of leukocytoclastic vasculitis was identified in 5 patients, these included streptococcal infection in 2 patients, in the other patients the possible causes were penicillin hypersensitivity, systemic lupus erythematosus and livedoid vasculitis, respectively. PMID:2212916

Puavilai, S; Timpatanapong, P; Rajatanavin, N; Charuwichitratana, S; Polnikorn, N



Clinical features, lectin staining, and a novel GNE frameshift mutation in HIBM  

PubMed Central

We present a comprehensive report of two siblings of Indian descent with hereditary inclusion body myopathy (HIBM). The clinical features and histological characteristics of the two muscle biopsies show the typical pattern of predominantly distal vacuolar myopathy with quadriceps sparing. This was confirmed by muscle MRI. PNA lectin staining shows a reduced presence of sialic acids at the sarcolemma. Mutation analysis revealed compound heterozygous mutations in the GNE gene (encoding UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase): a missense mutation (c.2086G>A; p.V696M) previously described in HIBM patients of Indian origin, and a novel frameshift mutation (c.1295delA; p.K432RfsX16 ) leading to a premature stopcodon. These findings confirmed the diagnosis HIBM biochemically and genetically.

Voermans, Nicol C.; Guillard, M.; Doedee, R.; Lammens, M.; Huizing, Marjan; Padberg, G.W.; Wevers, R.A.; van Engelen, B.G.; Lefeber, D.J.



Heterotopic ossification: Pathophysiology, clinical features, and the role of radiotherapy for prophylaxis  

SciTech Connect

Heterotopic ossification (HO) is a benign condition of abnormal formation of bone in soft tissue. HO is frequently asymptomatic, though when it is more severe it typically manifests as decreased range of motion at a nearby joint. HO has been recognized to occur in three distinct contexts-trauma, neurologic injury, and genetic abnormalities. The etiology of HO is incompletely understood. A posited theory is that HO results from the presence of osteoprogenitor cells pathologically induced by an imbalance in local or systemic factors. Individuals at high risk for HO development frequently undergo prophylaxis to prevent HO formation. The two most commonly employed modalities for prophylaxis are nonsteroidal anti-inflammatory drugs and radiation therapy. This review discusses HO pathophysiology, clinical features, and the role of radiotherapy for prophylaxis.

Balboni, Tracy A. [Harvard Radiation Oncology Program, Brigham and Women's Hospital, Boston, MA (United States); Gobezie, Reuben [Department of Orthopedic Surgery, Brigham and Women's Hospital, Boston, MA (United States); Mamon, Harvey J. [Department of Radiation Oncology, Brigham and Women's Hospital, Boston, MA (United States)]. E-mail:



Clinical features and new molecular findings in muscle phosphofructokinase deficiency (GSD type VII).  


Muscle phosphofructokinase (PFKM) deficiency, a rare disorder of glycogen metabolism also known as glycogen storage disease type VII (GSDVII), is characterized by exercise intolerance, myalgias, cramps and episodic myoglobinuria associated with compensated hemolytic anaemia and hyperuricemia. We studied five patients with PFKM deficiency coming from different Italian regions. All probands showed exercise intolerance, hyperCKemia, cramps and myoglobinuria. One patient had a mild hypertrophic cardiomyopathy. Biochemical studies revealed residual PFK activity ranging from 1 to 5%. Molecular genetic analysis identified four novel mutations in the PFKM gene. In our series of patients, clinical and laboratory features were similar in all but one patient, who had an unusual phenotype characterized by 25 ears disease history, high CK levels, hypertrophic cardiomyopathy with paroxysmal atrial fibrillation without fixed muscle weakness. PMID:22133655

Musumeci, Olimpia; Bruno, Claudio; Mongini, Tiziana; Rodolico, Carmelo; Aguennouz, M'hammed; Barca, Emanuele; Amati, Angela; Cassandrini, Denise; Serlenga, Luigi; Vita, Giuseppe; Toscano, Antonio



Clinical, genetic, and brain sonographic features related to Parkinson's disease in Gaucher disease.  


Homozygous or compound heterozygous mutations in the glucocerebrosidase gene cause Gaucher disease. Moreover, heterozygous glucocerebrosidase gene mutations represent the most common genetic risk factor for Parkinson's disease (PD) known so far. Substantia nigra (SN) hyperechogenicity, a sonographic feature thought to reflect iron accumulation, has been described in both PD and Gaucher disease patients. Here we studied how clinical, genetic, and brain sonographic findings relate to the occurrence of PD in Gaucher disease. Sixteen Gaucher disease patients, 12 PD patients, and 32 control subjects were enrolled. The glucocerebrosidase genotypes were identified by DNA sequencing. All subjects underwent transcranial ultrasound, and eight Gaucher disease patients additionally MRI for comparison with SN ultrasound findings. SN hyperechogenicity and reduced echogenicity of brainstem raphe were more frequent in Gaucher disease patients (62, 37 %) than in controls (12, 12 %; p < 0.001, p < 0.05). SN hyperechogenicity in Gaucher disease patients was unrelated to type or severity of glucocerebrosidase gene mutation, but correlated with iron-sensitive MRI-T2 hypointensity of SN pars compacta, and with age at start of enzyme replacement therapy. While none of the five Gaucher disease patients with signs of PD (definite PD, n = 4; early PD, n = 1) had severe glucocerebrosidase gene mutations known to cause neuronopathic Gaucher disease, all carried a N370S allele, previously reported to predict non-neuronopathic Gaucher disease. Hyposmia, higher non-motor symptoms score (constipation, depression, executive dysfunction), and SN hyperechogenicity were characteristic features of Gaucher disease-related PD. We conclude that the combined clinical, genetic, and transcranial sonographic assessment may improve the PD risk evaluation in Gaucher disease. PMID:23811968

Böttcher, Tobias; Rolfs, Arndt; Meyer, Bianca; Grossmann, Annette; Berg, Daniela; Kropp, Peter; Benecke, Reiner; Walter, Uwe



Critical evaluation of the radiological and clinical features of adenomatoid odontogenic tumour  

PubMed Central

Objectives The aim of this study was to evaluate the radiological and clinical features of adenomatoid odontogenic tumours (AOTs). Methods A total of 272 cases (267 from the English-language literature and 5 new cases) were analysed with special emphasis on their radiological features. Results The patients' ages at time of diagnosis ranged from 3 years to 82 years (mean 18.4 years). The maxilla-to-mandible ratio was 1.7:1. Mandibular lesions were significantly more frequent among patients older than 16 years (p = 0.032). Expansion of the cortex was significantly more prominent among patients older than 16 years (p = 0.045). There was a positive correlation between the size of the lesion and the age of the patient at the time of diagnosis (p = 0.016). The size was also associated with increased root resorption (p < 0.001), ill-defined borders (p < 0.001), expansion (p < 0.001) and perforation of the cortex (p < 0.001). Small opacities were present in 77% of lesions and were associated with expansion of the cortex (p = 0.043). The significant radiological features in patients aged 30 years and above were root resorption (p = 0.013) and lesions crossing the midline (p = 0.019). Conclusions The size of an AOT is influenced by the patient's age. It is also associated with root resorption, ill-defined borders, expansion and perforation of the cortex, but it cannot be ruled out that those changes reflect a longer duration of the lesion.

Becker, T; Buchner, A; Kaffe, I



Combined effects of ethanol and cinnamaldehyde in the Japanese medaka embryo-larval assay (MELA).  


The Japanese medaka (Oryzias latipes) was used in the medaka embryo-larval assay (MELA) to determine possible adverse developmental effects of ethanol and the spice component, cinnamaldehyde (CAD). Fish may be exposed to waterborne ethanol and a variety of natural products from non-point sources or leaks during ethanol use as a fuel and from point source processing plant effluents. Consumption of ethanol during human pregnancy is known to cause fetal alcohol syndrome (FAS), a collection of birth defects including craniofacial abnormalities thought to be caused by the generation of free radicals during ethanol metabolism by both alcohol and aldehyde dehydrogenase(s). Fish are also susceptible to FAS (Dasmahapatra et al., meeting abstract). The activity of aldehyde dehydrogenase is inhibited by CAD [Biochem. J. 282 (1992) 353-360; Biochem. Pharmacol. 45 (1993) 1621-1630], and CAD is known to cause developmental abnormalities in the rat [Food Chem. Toxicol. 27 (1989) 781-786]. Therefore, the combined effects of treatment with both ethanol and CAD would be expected to produce additive or greater than additive effects in the MELA assay. Medaka were exposed to ethanol at 100 mM, CAD at 10, 1.0, 0.67 or 0.50 mM, to ethanol and CAD combined, or were non-treated controls. Ethanol at 100 mM was without effect. CAD alone at 10 mM and 1.0 mM was lethal by 1 dpf. Embryos exposed to 100 mM ethanol and 0.67 mM CAD exhibited cardiovascular and pigmentation defects and delayed hatching. Embryos exposed to 0.50 mM CAD alone had less severe cardiovascular problems as compared to the combined ethanol and CAD treatment. Taken together the results indicate that the combined effects of ethanol and CAD are greater than the individual effects and indicate the need to monitor effluents in fish nursery areas to protect natural fish populations. Supported by PHS/NIH ES07929. PMID:15178031

Haasch, Mary L; Ford, Annette W


Infantile hepatic hemangiomas. Clinical features, radiologic investigations, and treatment of 20 patients  

SciTech Connect

The clinical features, radiologic investigation, and treatment of 20 infants with hepatic hemangiomas are presented. Palpable abdominal mass (n = 18) and cardiac failure (n = 11) were the common presenting features. Nine patients had hyperconsumptive coagulopathy. Seven patients had other hemangiomas. Ultrasound (n = 15) showed the number and distribution of the hemangiomas within the liver. Hypoechoic and hyperechoic elements were present in addition to prominent vascular channels and diminished caliber of the distal aorta. Radionuclide sulfur colloid (n = 12) and labeled red blood cell (n = 7) studies showed the distribution and vascularity of the hemangiomas. Computed tomography (n = 8) revealed central hypointensity with marked peripheral enhancement after contrast. Arteriography now performed only as a prelude to therapeutic embolization demonstrated hypervascularity in each patient, contrast pooling in six and early draining veins in five. Magnetic resonance scanning (n = 3) showed decreased signal intensity on T1 images and high intensity signal on T2. In two patients, there was resolution or improvement of the hemangiomas without therapy. Four patients had surgery (lobectomy (2), trisegmentectomy (1), and surgical evacuation of a central hematoma (1)). Steroids and radiation were given to seven patients, and one patient also required therapeutic embolization. Steroids were the initial therapy in five patients, one of whom later required therapeutic embolization and another cyclophosphamide. Two patients were treated initially with radiation therapy, one of whom also needed emergency hepatic artery ligation. Seventeen of the 20 patients are alive and well from 6 months to 14 years after diagnosis.

Stanley, P.; Geer, G.D.; Miller, J.H.; Gilsanz, V.; Landing, B.H.; Boechat, I.M. (Childrens Hospital of Los Angeles, CA (USA))



Cognition, Language, and Clinical Pathological Features of Non-Alzheimer's Dementias: An Overview  

PubMed Central

There are many distinct forms of dementia whose pharmacological and behavioral management differ. Differential diagnosis among the dementia variants currently relies upon a weighted combination of genetic and protein biomarkers, neuroanatomical integrity, and behavior. Diagnostic specificity is complicated by a high degree of overlap in the initial presenting symptoms across dementia subtypes. For this reason, reliable markers are of considerable diagnostic value. Communication disorders have proven to be among the strongest predictors for discriminating among dementia subtypes. As such, Speech-Language Pathologists may be poised to make an increasingly visible contribution to dementia diagnosis and its ongoing management. The value and durability of this potential contribution, however, demands an improved discipline-wide knowledge base about the unique features associated with different dementia variants. To this end we provide an overview of cognition, language, and clinical pathological features of four of the most common non-Alzheimer’s dementias: Frontotemporal Dementia, Vascular Dementia, Lewy Body Disease Dementia, and Parkinson’s Disease Dementia.

Reilly, Jamie; Rodriguez, Amy; Lamy, Martine; Neils-Strunjas, Jean



A retrospective study of Creutzfeldt-Jakob disease in England and Wales 1970-79. I: Clinical features  

Microsoft Academic Search

A comprehensive search yielded 121 confirmed cases of Creutzfeldt-Jakob disease who died in England and Wales in the decade 1970-79, and 31 probable cases. The clinical features and the results of investigation are described. Three subgroups of patients were distinguished by clinical characteristics and contrasting course.

R G Will; W B Matthews



Clinical Features of Anti-Factor H Autoantibody-Associated Hemolytic Uremic Syndrome  

PubMed Central

Atypical hemolytic uremic syndrome (aHUS) is a rare form of thrombotic microangiopathy that associates, in 70% of cases, with genetic or acquired disorders leading to dysregulation of the alternative pathway of complement. Autoantibody directed against Factor H causes at least 6% to 10% of aHUS cases, but only a few clinical reports are available. Here, we describe the clinical, biologic, genetic features, treatment, and outcome of 45 patients who presented with aHUS associated with anti-FH autoantibody. We found that this form of aHUS primarily affects children between 9 and 13 years old but it also affects adults. It presents with a high frequency of gastrointestinal symptoms and with extrarenal complications and has a relapsing course. Activation of the alternative pathway of complement at the onset of disease portends a poor prognosis. Early specific treatment may lead to favorable outcomes. These data should improve the recognition and diagnosis of this form of aHUS and help identify patients at high risk of a poor outcome.

Sethi, Sidharth Kumar; Bagga, Arvind; Blanc, Caroline; Blouin, Jacques; Ranchin, Bruno; Andre, Jean-Luc; Takagi, Nobuaki; Cheong, Hae; Hari, Pankaj; Le Quintrec, Moglie; Niaudet, Patrick; Loirat, Chantal; Fridman, Wolf Herman; Fremeaux-Bacchi, Veronique



Tracheal rupture caused by blunt chest trauma: radiological and clinical features.  


The aim of this study was to assess radiomorphologic and clinical features of tracheal rupture due to blunt chest trauma. From 1992 until 1998 the radiomorphologic and clinical key findings of all consecutive tracheal ruptures were retrospectively analyzed. The study included ten patients (7 men and 3 women; mean age 35 years); all had pneumothoraces which were persistent despite suction drainage. Seven patients developed a pneumomediastinum as well as a subcutaneous emphysema on conventional chest X-rays. In five patients, one major hint leading to the diagnosis was a cervical emphysema, discovered on the lateral cervical spine view. Contrast-media-enhanced thoracic CT was obtained in all ten cases and showed additional injuries (atelectasis n = 5; lung contusion n = 4; lung laceration n = 2; hematothorax n = 2 and hematomediastinum n = 4). The definite diagnosis of tracheal rupture was made by bronchoscopy, which was obtained in all patients. Tracheal rupture due to blunt chest trauma occurs rarely. Key findings were all provided by conventional chest X-ray. Tracheal rupture is suspected in front of a pneumothorax, a pneumomediastinum, or a subcutaneous emphysema on lateral cervical spine and chest films. Routine thoracic CT could also demonstrate these findings but could not confirm the definite diagnosis of an tracheal rupture except in one case; in the other 9 cases this was done by bronchoscopy. Thus, bronchoscopy should be mandatory in all suspicious cases of tracheal rupture and remains the gold standard. PMID:10757000

Kunisch-Hoppe, M; Hoppe, M; Rauber, K; Popella, C; Rau, W S



Primary osteoporosis without features of OI in children and adolescents: clinical and genetic characteristics.  


Our aim was to characterize clinical findings and familial associations, and to examine candidate genes for disease-causing mutations in a cohort of children suffering from primary osteoporosis without features of osteogenesis imperfecta. Patients with osteoporosis and their nuclear families were studied. Medical history was reviewed. Calcium homeostasis parameters were measured and spinal radiographs obtained. BMD was determined by DXA for patients, parents and siblings. LRP5, LRP6, and PTHLH genes were sequenced. Twenty-seven patients (14 males) from 24 families were recruited. Median age at presentation was 10.1 years (range 3.3-15.6 years). One-third of the children had at least one parent with a BMD below the expected range for age. LRP5, LRP6, and PTHLH showed no causative mutations. Four polymorphisms in LRP5 were overrepresented in patients; the minor allele frequency of Q89R, V667M, N740N, and A1330V was significantly higher than in controls. Age of onset, clinical severity, and inheritance patterns are variable in children with primary osteoporosis. Several patients had evidence suggestive of familial transmission. The underlying genetic factors remain to be elucidated. PMID:22511589

Laine, Christine M; Koltin, Dror; Susic, Miki; Varley, Talia L; Daneman, Alan; Moineddin, Rahim; Cole, William G; Mäkitie, Outi; Sochett, Etienne



Angiocentric glioma: clinical, morphological, immunohistochemical and molecular features in three pediatric cases.  


Angiocentric glioma is a rare slow growing tumor. It is associated to seizures and is mainly diagnosed in children and young adults. We describe the clinical, histo-pathological and molecular (IDH1, IDH2 and BRAFV600E mutational status) features in 3 children, 2 girls (2- and 11-years old) and 1 boy (10-years old). The tumors were located at the left temporo-parietalinsular, left parieto-occipital and left subcortical paramedian region respectively. All 3 patients were operated. Two patients are well at 2 and 16 months of follow-up while the third still suffers from seizures at 7 years of follow-up. Histologically, all tumors were composed of spindle-shaped cells showing a prominent tendency to align around the blood vessels and to grow in the subpia space creating palisade-like structures. In one case the tumoral cells were embedded in a mucoid matrix and some microcalcifications were observed. In all the cases the neoplastic cells diffusely immunostained for GFAP and S-100. Punctate dot-like intracytoplasmic staining for EMA was also observed. All tumors resulted in wild type for the mutations investigated. Owing to the rarity of angiocentric glioma, we believe that each new case should be recorded to produce a better clinical, pathological and molecular characterization of this lesion. PMID:23073165

Buccoliero, Anna Maria; Castiglione, Francesca; Degl'innocenti, Duccio Rossi; Moncini, Daniela; Spacca, Barbara; Giordano, Flavio; Genitori, Lorenzo; Taddei, Gian Luigi


Clinical, histopathologic, and genetic features of pediatric primary myelofibrosis--an entity different from adults.  


Primary myelofibrosis is a chronic myeloproliferative neoplasm characterized by cytopenias, leukoerythroblastosis, extramedullary hematopoiesis, hepatosplenomegaly and bone marrow fibrosis. Primary myelofibrosis is a rare disorder in adults; children are even less commonly affected by this entity, with the largest pediatric case series reporting on three patients. Most literature suggests spontaneous resolution of myelofibrosis without long term complications in the majority of affected children. We describe the clinical, pathologic, and molecular characteristics and outcomes of nineteen children with primary myelofibrosis treated in our center from 1984 to 2011. Most patients had cytopenia significant enough to require supportive therapy. No child developed malignant transformation and only five of the 19 children (26%) had spontaneous resolution of disease. Sequence analyses for JAK2V617F and MPLW515L mutations were performed on bone marrow samples from 17 and six patients, respectively, and the results were negative. In conclusion, analysis of this large series of pediatric patients with primary myelofibrosis demonstrates distinct clinical, hematologic, bone marrow, and molecular features from adult patients. PMID:22389089

DeLario, Melissa R; Sheehan, Andrea M; Ataya, Ramona; Bertuch, Alison A; Vega, Carlos; Webb, C Renee; Lopez-Terrada, Dolores; Venkateswaran, Lakshmi



[Epidemiology, clinical features and prognosis of juvenile tetanus in Dakar, Senegal].  


This study was conducted to determine the prevalence of juvenile tetanus and to describe its epidemiological aspects, clinical features and prognosis. We prospectively recruited tetanus cases among patients in the age group 1-15 years admitted to the Infectious Diseases Clinic in Fann teaching hospital, Dakar, from March to September 2002. Forty cases of juvenile tetanus were recruited, accounting for 5.3% of total patients and 43% of all tetanus cases hospitalized during the study period. Mean age was 8.8 years +/- 4.4 years and sex-ratio M/F was 3. None of the patients was reported to have completed a full course of tetanus toxoid and most of them (77%) had been living in suburbs in Dakar were uneducated (77%) and had parents with no occupation (70%). Portals of entry were: skin injuries (62%), circumcision (20%), ear pearcing (5%) and suppurative otitis (8%). Tetanus became widespread in all cases, most of which having mild grade disease (72%). Pseudomonas aeruginosa bacteremia was diagnosed in the development of two fatal cases of otogenous tetanus. The overall case fatality rate was 8% (three deaths) and no sequelae was observed among those who recovered. The expanded programme on immunization should be reinforced and complemented with booster doses strategy to avoid tetanus whatever the age group. PMID:16425716

Soumaré, M; Seydi, M; Ndour, C T; Ndour, J D; Diop, B M



Epidemiological, clinical features and susceptibility pattern of shigellosis in the buea health district, Cameroon  

PubMed Central

Background Shigellosis is an acute invasive enteric infection caused by bacteria belonging to the genus Shigella; it is clinically manifested by bloody diarrhoea. Shigellosis is endemic in many developing countries including Cameroon and also occurs in epidemics causing considerable morbidity and mortality. This study evaluated the epidemiological and clinical features of Shigella and the resistance pattern of isolates to commonly used antibiotics in the Buea Health District in Cameroon, from April to August, 2010. Results Of the 223 stool samples cultured, 10 (4.5%) yielded Shigella species. Isolation rate was observed to be more in children below 15 years (7.89%), and also higher in rural areas (6.35%). All 10 isolates showed resistance to at least two antibiotics and 9 (90%) were multi-drug resistant. The highest resistance rates were encountered with cotrimoxazole (90%) and amoxicillin (80%). Least resistance was observed with azithromycin (10%). Conclusion Shigellosis is more prevalent in children below 15 years in the Buea District. There is a high level of resistance to most of the antibiotics used for the treatment of shigellosis including extended-spectrum beta-lactamases (ESBLs) as well as evidence of resistance to quinolones. Azithromycin was found to be the drug of choice for shigellosis in this setting.



Pentosidine, an advanced glycation end-product, may reflect clinical and morphological features of hand osteoarthritis.  


The study investigates pentosidine levels, an advanced glycation end-product, in patients with erosive and non-erosive hand osteoarthritis (HOA) and determine its potential association with clinical findings and imaging-defined joint damage.Pentosidine was measured by HPLC in serum and urine of 53 females with HOA (31 erosive and 22 non-erosive HOA) and normalised to the total serum protein or urinary creatinine, respectively. Pain, joint stiffness and disability were assessed by the Australian/Canadian OA hand index (AUSCAN). The hand radiographs scored according to the Kallman grading scale were assessed to determine a baseline value and reassessed after two years.The levels of urine pentosidine, but not of serum pentosidine, were higher in patients with erosive HOA than in non-erosive HOA (p=0.039). Urinary pentosidine correlated with CRP (r=0.302, p=0.031), ESR (r=0.288, p=0.041) and AUSCAN (r=0.408, p=0.003). Serum pentosidine, but not in urine, significantly correlated with the Kallman radiographic score in erosive HOA at the baseline (r=0.409, p=0.022) and after 2 years (r=0.385, p=0.032). However, when corrected for age and disease duration, only correlation between urine pentosidine and AUSCAN remained significant (r=0.397, p=0.004).Our data suggest that serum and urine pentosidine levels may relate to the distinctive clinical and morphological features of HOA. PMID:22715350

Braun, Martin; Hulejová, Hana; Gatterová, Jind?iška; Filková, Mária; Pavelková, Andrea; Sléglová, Olga; Kasp?íková, Nikola; Vencovský, Ji?í; Pavelka, Karel; Senolt, Ladislav



[Radiological study of the morphological abnormalities on lumbosacral spine--with special reference to clinical features].  


The relationship between clinical features and radiological findings in patients with morphological abnormalities including lumbosacral transitional vertebrae (TV), spina bifida occulta (SBO), and lumbar spondylolysis (LY) was investigated. Materials were 1194 cases including 408 TV, 402 SBO, 162 LY, 85 LY+SBO, 41 LY+TV and 96 SBO+TV. Five hundred cases showing normal structure of lumbosacral spine in X-rays were also studied as a control group. Many of the cases with clinical symptoms showed the low position of the intercrestal line, 34.4% of the patients with incomplete diarthroial joint of TV complained of sciatica or numbness of the leg. The range of motion of the vertebral body directly above TV increased in patients with TV located below the intercrestal line. In many cases of the 5th lumbar spondylolysis, a decrease of the lumbosacral angle and an increase of the pedicle facet angle in the 4th and 5th lumbar vertebrae were observed. In many cases of co-existence of the 5th lumbar spondylolysis and SBO in the 5th lumbar vertebrae, it was observed that a decrease of the lumbosacral angle and the lumbar index and an increase of the pedicle facet angle compared with cases of the 5th spondylolysis. PMID:8409640

Sugihara, S



Phenotypic Delineation of Emanuel Syndrome (Supernumerary Derivative 22 syndrome): Clinical features of 63 individuals  

PubMed Central

Emanuel syndrome is characterized by multiple congenital anomalies and developmental disability. It is caused by the presence of a supernumerary derivative chromosome that contains material from chromosomes 11 and 22. The origin of this imbalance is 3:1 malsegregation of a parental balanced translocation between chromosomes 11 and 22, which is the most common recurrent reciprocal translocation in humans. Little has been published on the clinical features of this syndrome since the 1980s and information on natural history is limited. We designed a questionnaire to collect information from families recruited through an international online support group, Chromosome 22 Central. Data gathered include information on congenital anomalies, medical and surgical history, developmental and behavioural issues, and current abilities. We received information on 63 individuals with Emanuel syndrome, ranging in age from newborn to adulthood. As previously recognized, congenital anomalies were common, the most frequent being ear pits (76%), micrognathia (60%), heart malformations (57%), and cleft palate (54%). Our data suggest that vision and hearing impairment, seizures, failure to thrive and recurrent infections, particularly otitis media, are common in this syndrome. Psychomotor development is uniformly delayed, however the majority of individuals (over 70%) eventually learn to walk with support. Language development and ability for self-care are also very impaired. This study provides new information on the clinical spectrum and natural history of Emanuel syndrome for families and physicians caring for these individuals.

Carter, Melissa T; Pierre, Stephanie A St.; Zackai, Elaine H; Emanuel, Beverly S; Boycott, Kym M



Clinical, dermoscopic and histopathologic features of genital and extragenital lichen sclerosus.  


Background? Little is currently known about the dermoscopic patterns of genital and extragenital lichen sclerosus (LS). In order to evaluate and compare the dermoscopic and histopathologic patterns of genital and extragenital lichen sclerosus, a retrospective analysis of clinical, dermoscopic and histopathologic features of genital and extragenital LS, collected between March 2010 and December 2011 at four dermatology clinics in Greece, Italy, Serbia and Uruguay was performed. Observations? A total of 29 lesions from 14 (mean age 62.8?years) and 12 (mean age 53.5?years) patients with genital and extragenital LS, respectively were analyzed. Mean duration of disease was 3.5?years for genital and 1.8?years for extragenital LS. White-yellowish structureless areas were seen in all cases of genital and extragenital LS; however linear vessels occurred at higher frequency in genital than in extragenital lesions (85.7% vs. 33.3%, respectively). Extragenital LS revealed two different time-related patterns: keratotic plugs were more prevalent in lesions with short duration (<2?years), whereas longer persisting lesions appeared atrophic and revealed fine chrysalis structures. Conclusions? Our morphologic study provides novel insights into the morphologic diversity of LS at different body sites and different stages of progression. PMID:22646723

Larre Borges, A; Tiodorovic-Zivkovic, D; Lallas, A; Moscarella, E; Gurgitano, S; Capurro, M; Apalla, Z; Bruno, J; Popovic, D; Nicoletti, S; Pérez, J; Zalaudek, I



Clinical features of bleb-related infection: a 5-year survey in Japan.  


Purpose:? To present clinical features and microbial data for bleb-related infections obtained by the 5-year-long Japan Glaucoma Society Survey of Bleb-related Infection (JGSSBI). Methods:? This multicentre prospective observational study was conducted in 82 clinical centres in Japan. A total of 170 bleb-related infections developed in 157 eyes of 156 patients during a 5-year period. The ophthalmological and microbial data were analysed. Results:? The patient age at first infection was 59.3?±?17.7?years [mean?±?standard deviation (SD)], and the period between the last glaucoma surgery and the first infection was 6.9?±?5.8?years (mean?±?SD; range: 0.3-41?years). Bleb leakage was noted significantly more frequently in eyes with repeated infections. The stage of infection at diagnosis was stage I in 91 infections (54%), stage II in 30 infections (18%), stage IIIa in 18 infections (11%), and stage IIIb in 31 infections (18%). Staphylococcus species were the most frequently isolated microbe (41%), followed by Streptococcus species (32%). Streptococcus species, coagulase-negative Staphylococcus, Haemophilus influenzae, and Enterococcus species were the major bacteria isolated in the late-stage infections. Conclusions:? The JGSSBI project has revealed several characteristics of bleb-related infection in Japan, which include the significance of bleb leakage in the development of repeated infections and the distribution of bacterial isolates. PMID:22883301

Yamamoto, Tetsuya; Kuwayama, Yasuaki; Kano, Kiyoshi; Sawada, Akira; Shoji, Nobuyuki



MALT lymphomas -Treated with chemotherapy or radiotherapy: Clinical Features, Prognostic factors and Survival.  


Objective: MALT lymphomas are a group of extranodal indolent lymphomas that usually present as stage IE. To clarify clinical features, treatment alternatives and outcomes, we evaluated 38 patients treated with chemotherapy or radiotherapy between 2000 and 2011. Patients and Methods: MALT lymphoma patients identified according to WHO classification and treated at KCCC between 2000 and 2011 were included in this study. Demographic and clinical data are presented as means or medians. Overall survival was estimated using the Kaplan-Meier method. Survival rates were compared using the log-rank test. A p value < 0.05 was considered significant. Results: The median age of the patients was 49 years and the male to female ratio was 2:1. Gastric MALT accounted for 63% of all patients and the most common presenting symptom was abdomen pain and dyspepsia. The common extra gastric sites were salivary glands, lung and orbit. 90% of the patients presented with early stage disease. Two patients had history of pre-existing autoimmune disease. Even among patients who had failed prior antibiotic therapy for Helicobacter pylori, treatment with chemotherapy achieved good results with 5 year survival of 80%. Conclusion: MALT lymphomas are indolent neoplasm's with excellent long term outcome. There is no significant difference in survival between gastric and extra-gastric MALT lymphoma. Keywords: MALT lymphoma, Gastric Neoplasm, H. pylori. PMID:23996871

Alshemmari, S; Sreedharan, P S; Krishnan, Y



Early Controversies over Athetosis: I. Clinical Features, Differentiation from other Movement Disorders, Associated Conditions, and Pathology  

PubMed Central

Background Since the description of athetosis in 1871 by American neurologist William Alexander Hammond (1828–1900) the disorder has been a source of controversy, as were many aspects of Hammond’s career. Methods Primary sources have been used to review controversies in the 50-year period since the initial description of athetosis, in particular those concerning clinical features, differentiation from other movement disorders, associated conditions, and pathology. Controversies concerning treatment will be addressed in a subsequent article. Results Hammond struggled to establish athetosis as a distinct clinical–pathological entity, and had successfully predicted the striatal pathology in his initial case (albeit somewhat serendipitously). Athetosis was, nevertheless, considered by many neurologists to be a form of post-hemiplegic chorea or part of a continuum between chorea and dystonia. European neurologists, and particularly the French, initially ignored or discounted the concept. Additional controversies arose over whether the movements persisted during sleep, whether athetosis was, or could be, associated with imbecility or insanity, and how it should be treated. Discussion Some controversies concerning athetosis served to identify areas where knowledge was insufficient to make accurate statements, despite prior self-assured or even dogmatic statements to the contrary. Other controversies illustrated established prejudices, even if these biases were often only apparent with the greater detachment of hindsight.

Lanska, Douglas J.



The clinical and morphologic features of nonepidermolytic ichthyosis in the golden retriever.  


A scaling disorder specific to Golden Retriever dogs has been recognized by both dermatologists and pathologists, but to date has not been well characterized. At the University of Pennsylvania's Laboratory of Toxicology and Pathology, 46 cases of ichthyosis were diagnosed histologically in Golden Retriever dogs from January 2004 to January 2007. A total of 22 dogs had skin lesions documented at younger than 1 year of age; 3 dogs between 1 and 2 years of age; 13 dogs developed lesions at older than 2 years; and the time of onset was unknown for 8 dogs. A total of 25 dogs were female, and 21 were male. All dogs had strikingly similar histopathologic changes that consisted of mild to moderate laminar orthokeratotic hyperkeratosis with an absence of epidermal hyperplasia and dermal inflammation. Ultrastructural analysis using a ruthenium tetroxide fixation method was performed on punch biopsy samples from 5 dogs and compared with 2 control dogs (1 clinically and histologically normal sibling of an affected dog and 1 Cairn Terrier). All affected dogs had retained and convoluted membranes with crystalline structures in the stratum corneum. Scattered keratinocytes in the granular cell layer had prominent, clear, membrane-bound, cytoplasmic vacuoles. Pedigree analysis of 14 dogs was compatible with autosomal recessive inheritance, but incomplete dominance could not be ruled out. This unique hyperkeratotic/scaling disorder in Golden Retrievers has distinctive clinical, histologic, and ultrastructural features, which are consistent with a primary cornification defect. PMID:18424829

Mauldin, E A; Credille, K M; Dunstan, R W; Casal, M L



Clinical and serological features of systemic sclerosis in a Chinese cohort  

PubMed Central

Our goal was to study the prevalence of systemic sclerosis (SSc) subtypes, autoantibody profile, and pulmonary fibrosis in a large group of Han Chinese. Chinese SSc patients (n=419) were recruited from a multicenter study including hospitals and outpatient clinics in China. All patients met the American College of Rheumatology classification criteria for SSc. Anti-topoisomerase (ATA), anti-centromere (ACA), anti- RNA polymerase III (anti-RNAP3), and anti-U1- ribonucleoprotein (anti-U1RNP) were detected utilizing commercially available kits. The clinical and autoantibody information in Chinese patients was compared to that in the US Caucasian patients (n=834), recruited from the Genetics versus Environment in Scleroderma Outcome Study and Scleroderma Family Registry. Chi-square test was utilized for the abovementioned comparisons. Chinese patients showed 40.3 % limited (lcSSc) and 59.7 % diffuse (dcSSc) forms of SSc. ATA was found in 59.9 %, ACA in 13.4 %, anti-RNAP3 in 1.3 %, and anti-U1RNP in 18 % of Chinese SSc patients. Compared to US patients (65.1 % lcSSc, 34.9 % dcSSc, ATA in 18.7 %, ACA in 32.4 %, anti-RNAP3 in 17.4 %, and anti-U1RNP in 2.8 %), Chinese SSc patients are significantly higher in dcSSc and the frequencies of ATA and anti-U1RNP, but lower in ACA and anti-RNAP3. In addition, pulmonary fibrosis was observed in 78 % Chinese SSc patients and was strongly associated with the presence of ATA. The present study represents the first report of SSc features in a large group of Chinese patients. Clinical subtypes and the frequencies of SSc-related autoantibodies in Chinese SSc patients are significantly different from those in SSc patients of the US Caucasian descent.

Wang, Jiucun; Assassi, Shervin; Guo, Gang; Tu, Wenzhen; Wu, Wenyu; Yang, Li; Xiao, Rong; Zhao, Yongqiang; Chu, Haiyan; Liu, Jie; Ma, Yanyun; Kim, Sarah J.; Jin, Li; Mayes, Maureen D.; Zou, Hejian



A new disease-related mutation for mitochondrial encephalopathy lactic acidosis and strokelike episodes (MELAS) syndrome affects the ND4 subunit of the respiratory complex I  

SciTech Connect

The molecular lesions in two patients exhibiting classical clinical manifestations of MELAS (mitochondrial encephalopathy, lactic acidosis, and strokelike episodes) syndrome have been investigated. A recently reported disease-related A[yields]G base substitution at nt 3243 of the mtDNA, in the DHU loop of tRNA[sup Leu], was detected by restriction-enzyme analysis of the relevant PCR-amplified segment of the mtDNA of one patient but was not observed, by either restriction-enzyme analysis or nucleotide sequencing, in the other. To define the molecular lesion in the patient who does not have the A[yields]G base substitution at nt 3243, the total mitochondrial genome of the patient has been sequenced. An A[yields]G base substitution at nt 11084, leading to a Thr-to-Ala amino acid replacement in the ND4 subunit of the respiratory complex I, is suggested to be a disease-related mutation. 49 refs., 7 figs., 1 tab.

Lertrit, P.; Noer, A.S.; Kapsa, R.; Marzuki, S. (Monash Univ., Clayton, Victoria (Australia)); Jean-Francois, M.J.B.; Thyagarajan, D.; Byrne, E. (St. Vincent's Hospital, Fitzroy, Victoria (Australia)); Dennett, X. (Univ. of Melbourne, Parkville, Victoria (Australia)); Lethlean, K. (Prince Henry Hospital, Sydney (Australia))



Clinical Features of Deep Neck Infections and Predisposing Factors for Mediastinal Extension  

PubMed Central

Background Deep neck infections (DNI) can originate from infection in the potential spaces and fascial planes of the neck. DNI can be managed without surgery, but there are cases that need surgical treatment, especially in the case of mediastinal involvement. The aim of this study is to identify clinical features of DNI and analyze the predisposing factors for mediastinal extension. Materials and Methods We reviewed medical records of 56 patients suffering from DNI who underwent cervical drainage only (CD group) and those who underwent cervical drainage combined with mediastinal drainage for descending necrotizing mediastinitis (MD group) from August 2003 to May 2009 and compared the clinical features of each group and the predisposing factors for mediastinal extension. Results Forty-four out of the 56 patients underwent cervical drainage only (79%) and 12 patients needed both cervical and mediastinal drainage (21%). There were no differences between the two groups in gender (p=0.28), but the MD group was older than the CD group (CD group, 44.2±23.2 years; MD group, 55.6±12.1 years; p=0.03). The MD group had a higher rate of co-morbidity than the CD group (p=0.04). The CD group involved more than two spaces in 14 cases (32%) and retropharyngeal involvement in 12 cases (27%). The MD group involved more than two spaces in 11 cases (92%) and retropharyngeal involvement in 12 cases (100%). Organism identification took place in 28 cases (64%) of the CD group and 3 cases of (25%) the MD group (p=0.02). The mean hospital stay of the CD group was 21.5±15.9 days and that of the MD group was 41.4±29.4 days (p=0.04). Conclusion The predisposing factors of mediastinal extension in DNI were older age, involvement of two or more spaces, especially including the retropharyngeal space, and more comorbidities. The MD group had a longer hospital stay, higher mortality, and more failure to identify causative organisms of causative organisms than the CD group.

Kang, Shin Kwang; Lee, Seokkee; Oh, Hyun Kong; Kang, Min-Woong; Na, Myung Hoon; Yu, Jae Hyeon; Koo, Bon Seok



Clinical expression and EEG features of patients with juvenile myoclonic epilepsy (JME) from North India.  


We aimed to characterize the clinical profile, EEG features and response to treatment of juvenile myoclonic epilepsy (JME) patients. We studied 103 JME probands with a standard protocol recording age of onset, type, frequency of seizures, EEG data, detailed family history and response to treatment in a superspeciality university hospital in New Delhi. The mean age of onset of disease was 14.01 +/- 3.14 years with a male to female ratio of 1.19 : 1. The myoclonic jerks were present in all the probands, generalized tonic-clonic seizures (GTCS) were present in 75.72% and 11.65% probands had absence seizures. The incidence of febrile convulsion (FC) was higher (9.7%) in our JME probands reflecting some ethnic variation or ascertainment bias. There was a considerable delay (of approximately 5.26 +/- 4.61 years) in the diagnosis of JME in our probands because most of the patients were referred from private physicians who were possibly not familiar with this epileptic syndrome in this part of the world or thought it was a milder variety of GTCS. The family history was positive in 25.24% JME probands among first- and second-degree relatives. An interictal EEG was found to be abnormal in 81 (78.64%) patients with the predominant abnormality being generalized polyspike and wave (PSW) discharges (39.80% probands). The majority of patients (80.58%) showed a good response to treatment with valproate alone. There was a subset of patients (11.65%) who required the addition of other antiepileptic drugs (AEDs) for control of GTCS: 7.76% of JME patients were diagnosed as cases of GTCS by private practitioners before they were registered in our study and their seizures were well controlled on other AEDs (without valproate) prescribed by the referring physicians (carbamazepine-4, phenytoin-2, clobazam-2). It is concluded that the clinical features and EEG data of JME probands were comparable to reports from other parts of the world except for the fact that the incidence of FC was higher in our JME patients. There was a delay in the diagnosis of JME due to unfamiliarity with the epileptic syndrome among private practitioners in this part of the world. There was a subset of JME patients who had complete seizure control on other AEDs besides valproate. PMID:12237068

Mehndiratta, M M; Aggarwal, P



Observational study on Takotsubo-like cardiomyopathy: clinical features, diagnosis, prognosis and follow-up  

PubMed Central

Objectives The present study attempts to identify appropriate elements that may contribute to clarify the broad clinical features (diagnosis, care, complication and prognosis) of Takotsubo-like cardiomyopathy for improving its management. Design study Observational study. Setting Primary level of care referred to the emergency department of Vannini Hospital, Rome, Italy. Participants The study population consisted of 75 patients, 72 of the them were women and 3 were men with a mean age of 71.9±9.6?years. Methods From February 2004 to November 2010, prospectively included 84 consecutive patients diagnosed for suspected Takotsubo-like cardiomyopathy. To be eligible, patients had to meet all the Mayo clinic criteria in the absence of neurological trauma or intracranial haemorrhage. Moreover, those patients that at follow-up still presented alteration of acute phase at ECG and echocardiogram were excluded. Thus, 75 patients comprised the study population. To follow-up 19 patients were lost. Results None of 75 patients died in acute phase. All patients were promptly discharged (8.4±4.4?days), since they recovered their normal functional status without symptoms. Follow-up information was available for 56 patients. At a mean follow-up time of 2.2±2?years (range, 0.1–6.8?years) two octogenarian patients (2.6%) died because of sudden cardiac death and pulmonary embolism, respectively. The Takotsubo-like cardiomyopathy recurred in one patient. Conclusions The results of this study support the previous reports about the good prognosis, also in critically ill patients, of Takotsubo-like cardiomyopathy. Further assessment will be needed to determine a careful and sustained follow-up for choosing the best care and foreseeing the recurrences of this emerging condition.

Cacciotti, Luca; Passaseo, Ilaria; Marazzi, Giuseppe; Camastra, Giovanni; Campolongo, Giuseppe; Beni, Sergio; Lupparelli, Fabrizio; Ansalone, Gerardo



IMAGe association: additional clinical features and evidence for recessive autosomal inheritance.  


Congenital adrenal hypoplasia (CAH) normally occurs in the neonatal period, with patients presenting with more or less severe salt-wasting syndrome. X-linked CAH has been associated with mutations in the DAX-1 gene, and boys have also been shown to have hypogonadotrophic hypogonadism. Recently, in three unrelated boys, CAH was associated with intrauterine growth retardation (IUGR), metaphyseal dysplasia and genital abnormalities, defining a new association called IMAGe. We now report four additional patients with this association, including the first living female. The four patients belong to two unrelated families (one brother and one sister from each family). These patients have the main clinical characteristics of IMAGe association: IUGR, facial dysmorphy (frontal bossing, broad nasal bridge, low-set ears), short limbs due to metaphyseal dysplasia, and adrenal insufficiency. As these patients are older than the initial three patients, we can also describe additional features: short adult height, normal puberty in boys as well as in the living girl. The boys have hypospadias associated with micropenis. The living girl came to clinical attention at the age of 5 years as a result of a familial survey, and careful questioning revealed that she had been suffering from mild adrenal insufficiency since early childhood. At least one boy has congenital hypotonia due to muscular dystrophy. In conclusion, these four new cases display familial transmission, strongly suggesting Mendelian autosomal recessive inheritance. Adrenal insufficiency may be mild. Hypotonia, described in all the patients, might be related to paucisymptomatic muscular dystrophy, as this condition is clearly heterogeneous varying with regard to severity, associated manifestations and outcome. If this symptom is part of the syndrome, which we cannot assume, it could help to localize the candidate gene. PMID:12065932

Lienhardt, Anne; Mas, Jean-C; Kalifa, Gabriel; Chaussain, Jean-Louis; Tauber, Maïthé



Orthokeratinized odontogenic cyst in a Hong Kong community: the clinical and radiological features  

PubMed Central

Objectives The aim was to evaluate the principal clinical and conventional radiological features of a consecutive series of cases of orthokeratinized odontogenic cyst (OOC) affecting a Hong Kong Chinese community and to determine the outcome by follow-up. Methods All cases were accompanied by appropriate radiography and were confirmed by histopathology. Results The clinical and conventional radiological presentations, differential diagnoses and outcomes of follow-up of five consecutive OOCs were reviewed. There were two males and three females. All affected the posterior sextant. The mean age at first presentation was 33.5 years. The mean of their period of prior awareness was 0.11 years. Swelling was the most frequent presenting symptom. All presented as well-defined corticated radiolucencies; three were unilocular and two were multilocular and all displayed expansion. This resulted in displacement and erosion of the lower border of the mandible in one case and the downward displacement past the lower border of a lateral cortex in two others. The inferior dental canal in each mandibular case exhibited both displacement and absence. The antrum was affected in a sole maxillary case. Four patients were followed up for a mean of 8.5 years. The fifth patient discharged himself shortly after surgery. No lesions recurred. Conclusions OOCs in this community displayed an expansile character, but did not recur after moderately long follow-up. The time between the prior awareness of their disease and their presentation for diagnosis and treatment was, so far, the shortest for any lesion affecting the jaw in this Hong Kong Chinese community.

MacDonald-Jankowski, D S; Li, T K



Clinical features and outcomes of autoimmune hemolytic anemia: a retrospective analysis of 32 cases  

PubMed Central

Background There has been no report on the clinical features or natural history of autoimmune hemolytic anemia (AIHA) in the Korean adult population. This study retrospectively analyzed the clinical characteristics and long-term outcomes of AIHA in the Korean adults. Methods Patients newly diagnosed with AIHA between January 1994 and December 2010 at Chungnam National University Hospital were enrolled. Patient characteristics at diagnosis, response to treatment, and the natural course of the disease were documented. Results Thirty-two patients (31 females and 1 male) with a median age of 48 years (range, 17-86) were enrolled. Of these, 21.9% were initially diagnosed with secondary AIHA. Thirteen patients (40.6%) were initially diagnosed with Evans' syndrome. Of the 29 patients who were placed on therapy, 27 (93.1%) showed a partial response or better. Nevertheless, 1 year after initiating treatment, 80% of the patients were still treatment-dependent. During follow-up (median length 14 months; range, 0.5-238), 14 of 25 patients (56.0%) who were initially diagnosed with primary warm antibody AIHA were found to have systemic lupus erythematosus (SLE). Median time to conversion to SLE was 8.0 months (95% CI, 4.3-11.7), and the probabilities of conversion at 12 and 24 months were 63% and 91%, respectively. Younger age (<60 years) and a positive fluorescent anti-nuclear antibody test were associated with a higher probability of SLE conversion (P=0.01 and P<0.001, respectively). Conclusion Primary AIHA is rare. Regular, vigilant testing for SLE is required in patients initially diagnosed with AIHA.

Baek, Seung-Woo; Lee, Myung-Won; Ryu, Hae-Won; Lee, Kyu-Seop; Song, Ik-Chan; Lee, Hyo-Jin; Yun, Hwan-Jung; Kim, Samyong



Centrilobular necrosis in autoimmune hepatitis: a histological feature associated with acute clinical presentation  

PubMed Central

Aims The characteristic histological feature of autoimmune hepatitis (AIH) is interface hepatitis with predominant portal lymphoplasmacytic necroinflammatory infiltration. Centrilobular necrosis (CN), reminiscent of toxic or circulatory liver injury, has been reported in AIH. The aim of this study was to assess the frequency of CN in patients with AIH and its correlation with laboratory and clinical data. Methods Liver biopsies were obtained from 114 patients (90 women, 24 men, mean (SD) age 45.4 (19.4)?years) with AIH and were evaluated under code by a single pathologist according to the modified Knodell score. Results CN was found in 20 (17.5%) patients with virtually unaffected portal areas in four cases. Patients with AIH with CN had a higher total hepatic activity index (median (range) 11 (6 to 15) v 5 (2 to 10)) and presented less frequently with cirrhosis (10% v 38%). Patients with CN had a higher frequency of acute onset (87% v 32%), higher bilirubin (median (range) 12.0 (0.43 to 40.0) v 1.9 (0.36 to 46)) and higher ALT levels (median (range) 25.6 (2.7 to 63.9) v 7.2 (0.7 to 62.6)), than did patients with AIH without centrizonal injury. Conclusion CN with sparing of the portal areas represents a rare histological pattern in AIH. CN is associated with an acute clinical presentation and might reflect an early lesion preceding portal involvement. Recognition of this particular histological appearance enables early diagnosis of AIH and a timely initiation of immunosuppressive therapy.

Hofer, H; Oesterreicher, C; Wrba, F; Ferenci, P; Penner, E



Epidemiological and Clinical Features of Hepatitis B Virus Genotypes among Immigrants in Southern Italy  

PubMed Central

Background/aims. This study aims to determine the distribution and clinical features of HBV-genotypes in a population of immigrants affected by HBV-infection. Methods. Between 01/2003 and 03/2009, 1623 immigrants were tested for HBV-infection. Biochemical and virological activities were determined in HBsAg-positive patients; HBV-genotypes were determined, by the INNO-LiPA HBV Genotyping, in the subjects with HBV DNA detectable. In every patient we evaluated the stage and classified the infection as inactive carrier, mild or moderate/severe chronic hepatitis, cirrhosis, and/or HCC. Results. Among the tested subjects, 191 (11.7%) resulted HBsAg-positive, and in 144/191 (75.4%) serum HBV-DNA was detectable. The genotype distribution was as follows: 45,13% genotype E, 18,1% genotype D, 15,3% genotype B, 13,2% genotype C, 4,9% genotype A, 3,5% mixed genotypes (A–D). The evaluation of liver disease degree showed that 24.6% patients were inactive carriers of HBV infection, 19.4% presented a immunotolerance phase, 34.5% had mild chronic hepatitis, 13.6% had a moderate/severe chronic hepatitis, 6.3% had cirrhosis, and 1.6% presented HCC. Conclusions. Our study evidences a high prevalence of HBV-infection in immigrants, and the potentiality of migratory flow in the introduction of genotype non-D hepatitis B virus. The Hepatitis B virus genotypes presented significant differences in epidemiological and clinical characteristics.

Scotto, Gaetano; Martinelli, Domenico; Di Tullio, Rocco; Fazio, Vincenzina



Clinical features of hereditary angioedema in Chinese patients: New findings and differences from other populations.  


Background: Hereditary angioedema (HAE), caused by C1 inhibitor deficiency, is characterized by recurrent subcutaneous or submucosal swelling. Because it is rare, data on clinical features, especially in Chinese patients, are not comprehensive. Objective: Our aim was to identify the characteristics of HAE in a Chinese population and enhance clinical knowledge of this disease. Methods: One hundred and fifty-eight symptomatic patients were studied retrospectively. Data were obtained from medical records. Statistical analyses were performed using statistical software package: R version 2.14.0. Results: The majority of patients first experienced attacks during the second (42%) and third (32%) decades: the mean onset of symptoms was at the age of 21.25 years. The percentage of patients having experienced a swelling at least once for the following sites were: extremities (83.54%); pharyngolarynx (58.86%); face (55.06%); gastrointestinal tract (34.17%); trunk (18.35%) and genitalia (15.33%). Rare manifestations included melaena, swollen gastric mucosa inverting into the oesophagus, pleural effusion, dysuria and syncope. For patients who first experienced swelling in pre-adolescence, 41.67% noted intensified attack rates when they entered puberty. In pregnancy, 61.70% did not note a change in HAE attack frequency. Conclusion: Compared with previous studies, the mean age of symptom onset is older. The frequencies of abdominal attacks occurring in patients on the Chinese Mainland, as well as in Taiwan and Japan, appears much lower than in western countries. Ethnic or environmental differences may contribute to this finding. Melaena and gastric mucosa inverting into the oesophagus secondary to edema are first reported here. PMID:24001409

Xu, Ying-Yang; Jiang, Ying; Zhi, Yu-Xiang; Yin, Jia; Wang, Liang-Lu; Wen, Li-Ping; Gu, Jian-Qing; Guan, Kai; Zhang, Hong-Yu



Clinical features and independent predictors in the further development of rheumatoid arthritis in undifferentiated arthritis.  


This study aims to investigate the prognosis of undifferentiated arthritis (UA) and to estimate the putative predictors contributing to predict the development of UA into rheumatoid arthritis (RA); thus, it could improve appropriate medical intervention. A retrospective cohort study of 218 patients with an initial diagnosis of UA and 2-year follow-up monitoring was carried out. The baseline information including demographic variables, clinical features, and laboratory data was collected. A logistic regression model was used for the statistical analysis. After 2 years of follow-up, 20.18 % of UA patients evolved into RA, but 33.03 % remained undifferentiated. Meanwhile, 25.23 % went into remission, and 21.56 % developed into other connective tissue diseases. Univariate and multivariate analysis showed that the titer of antibodies to cyclic citrullinated peptide (anti-CCP), tender joint count and duration of morning stiffness were independent predictors for the development of RA. The area under the curve (AUC) of duration of morning stiffness (0.81) was largest, followed by tender joint count (0.74). The AUC of anti-CCP antibodies (0.68) was higher than that of rheumatoid factor of IgM type (IgM-RF) (0.60), and the combination of these two antibodies was significantly higher than each alone (P < 0.001). In conclusion, UA patients had variable clinical outcomes and prognosis. Only the titer of anti-CCP antibodies, tender joint count, and duration of morning stiffness, instead of IgM-RF, could predict the development of RA. Although the anti-CCP antibody was better than the IgM-RF in predicting RA, a combined detection of them still improved the diagnostic performance. PMID:23835879

Chen, Dongying; Li, Hao; Liang, Liuqin; Xiao, Youjun; Xu, Ting; Qiu, Qian; Lian, Fan; Zhan, Zhongping; Ye, Yujin; Xu, Hanshi; Yang, Xiuyan



Clinical features of patients with non-Hodgkin's lymphoma metastasizing to the pituitary glands  

PubMed Central

It is rare for systemic non-Hodgkin’s lymphoma (NHL) to metastasize to the hypothalamus and pituitary glands. The present study describes two patients with NHL and diabetes insipidus (DI) and 17 patients from the literature in order to analyze the clinical features of patients with NHL metastasizing to the pituitary glands. Diffuse large B cell lymphoma (DLBCL) was observed to be the most common type of NHL involving the hypothalamus-pituitary axis. A total of 11 patients (57.9%) had been diagnosed with DI (post-pituitary involvement), five (26.3%) with anterior hypopituitarism and three (15.8%) with posterior and anterior hypopituitarism. Only two cases exhibited simultaneous endocrine and lymphoma manifestations; the majority of cases (68.4%) exhibited lymphoma manifestations first. To make an etiological diagnosis of NHL with metastases to the pituitary glands, it is necessary to find that NHL exists in other regions of patient’s body. Biopsy of the sellar may have significant meaning, but this examination may difficult to perform. Chemotherapy for NHL relieves pituitary impairment symptoms and improves the overall examination results. Additionally, magnetic resonance imaging (MRI) of the pituitary gland has a certain differential diagnostic value as the T1- and T2-weighted imaging (WI) signals from patients with systemic NHL with pituitary involvement are low.




Olfactory Reference Syndrome: Demographic and Clinical Features of Imagined Body Odor  

PubMed Central

Objective Olfactory reference syndrome (ORS), preoccupation with a false belief that one emits a foul or offensive body odor, has been described around the world for more than a century. However, only a few small studies have systematically assessed ORS’s clinical features. Method Twenty patients with ORS were systematically assessed using semi-structured measures. Results Subjects’ mean age was 33.4 ± 14.1; 60% were female. Preoccupation most often focused on the mouth (75%), armpits (60%), and genitals (35%). Bad breath (75%) and sweat (65%) were the most common odor descriptions. Currently, 85% of subjects had delusional ORS beliefs, 77% had referential thinking, and 85% reported actually smelling the odor. Ninety-five percent of subjects reported performing one or more ORS-related repetitive behaviors (e.g., excessive showering). Forty percent had been housebound for at least one week because of ORS symptoms, 68% had a history of suicidal ideation, 32% had attempted suicide, and 53% had been psychiatrically hospitalized. Forty four percent of subjects had sought non-psychiatric medical, surgical, or dental treatment for the perceived odor, and one third had received such treatment, which was ineffective in all cases. Conclusion ORS appears to be characterized by high morbidity and seeking of non-psychiatric treatment.

Phillips, Katharine A.; Menard, William



Hemizygosity at the elastin locus and clinical features of Williams syndrome  

SciTech Connect

Williams syndrome is a recognizable syndrome characterized by distinctive facial appearance, gregarious personality, mental retardation, congenital heart defect, particularly supravalvular aortic stenosis (SVAS), and joint limitation. SVAS is an autosomal vascular disorder and the elastin gene was disrupted in patients with SVAS. Ewat et al. reported that hemizygosity at the elastin locus was detected in four familial and five sporadic cases of Williams syndrome. However, three patients did not have SVAS. We reconfirmed hemizygosity at the elastin locus in five patients with typical clinical features of Williams syndrome. Hemizygosity was detected in four cases with SVAS. However, one patient with distinctive facial appearance and typical Williams syndrome personality had two alleles of the elastin gene, but he did not have the congenital heart anomaly. Williams syndrome is thought to be a contiguous gene disorder. Thus, our data suggest that the elastin gene is responsible for the vascular defect in patients with Williams syndrome, and flanking genes are responsible for characteristic facial appearance and personality.

Morimoto, Y; Kuwano, A. [Ehime Univ. School of Medicine (Japan); Kuwajima, K. [Ibaraki Perfectural Handicap Children`s Hopsital (Japan)] [and others



Clinical features and prognostic factors in patients with carcinomatous meningitis secondary to breast cancer.  


Prognosis in patients with carcinomatous meningitis (CM) is poor, and numerous prognostic factors for response and survival have been described, but remain controversial. In general, series are small and involve a heterogeneous type of solid neoplasms. The purpose of this study was to describe a series of patients with breast cancer-associated CM to determine the clinical features and prognostic factors associated with survival. We conducted a retrospective study on 49 patients diagnosed between January 2003 and December 2007 at the Instituto Nacional de Cancerología in Mexico City. CSF cytopathology samples were re-reviewed to confirm the diagnosis. Overall survival (OS) for patients with breast cancer with CM was 7 weeks. Factors independently associated with better OS included absence of encephalopathy at diagnosis (11 weeks versus 1 week; p?=?.036), low CSF protein content (15 versus 5 weeks; p?= .022), and nontriple-negative receptor status in the primary breast cancer tumor (13 versus 3 weeks; p?=?.015). According to multivariate analysis, patients were divided into favorable and poor prognostic groups, with OS of 14 weeks and 2 weeks, respectively (p?

Lara-Medina, Fernando; Crismatt, Alejandro; Villarreal-Garza, Cynthia; Alvarado-Miranda, Alberto; Flores-Hernández, Lorena; González-Pinedo, Marcelino; Gamboa-Vignolle, Carlos; Ruiz-González, J D Salvador; Arrieta, Oscar



Primary lymphoma of the liver: clinical and pathological features of 10 patients.  

PubMed Central

Nine out of 10 patients with primary lymphoma of the liver presented in a manner that did not suggest a tumour. The initial diagnoses were chronic active hepatitis in three cases and "granulomatous cholangitis", inflammatory pseudotumour, and anaplastic carcinoma in one case each. Moreover, extensive haemorrhagic necrosis in three cases initially suggested the Budd-Chiari syndrome. All the tumours were diffuse non-Hodgkin's lymphomas like the 50 cases reported previously, but they differed from most of these in that nine were of T cell phenotype. Five were pleomorphic small T cell, two T zone, and two T lymphoblastic lymphomas: only one was centrocytic and of B cell lineage. This report extends the range of clinical manifestations (diffuse hepatomegaly without a tumour), histological appearances (resemblance to chronic inflammatory or vascular liver diseases) and phenotype (of T cell lineage) of primary lymphoma of the liver: these features seemed to be related in this series. Recognition is important as prognosis remains favourable in appropriately treated cases. Although the appearances of the liver biopsy specimens may be difficult to interpret, the destructiveness of the infiltrate is an important clue to the diagnosis. Images

Anthony, P P; Sarsfield, P; Clarke, T



Keratocystic odontogenic tumour in a Hong Kong community: the clinical and radiological features  

PubMed Central

Objectives The aim of this study was to evaluate the clinical and conventional radiological features of a consecutive series of cases of “keratocystic odontogenic tumour” (KCOT) affecting a Hong Kong Chinese community and to determine their outcome by follow-up. Methods All cases were accompanied by appropriate radiography and were histopathologically confirmed. Results 33 consecutive KCOTs were reviewed. 18 patients were male. The mean age at first presentation was 30.6 years. Swelling was the most frequent presenting symptom. Those patients first presenting with pain were significantly older, whereas those first presenting with a maxillary lesion were significantly younger. The maxilla and mandible were affected in 13 and 20 cases, respectively. KCOTs were most frequently confined to the posterior sextants of both jaws. KCOTs affecting the maxilla were mainly unilocular, whereas those affecting the mandible were multilocular. Patients with multilocular KCOTs were significantly older. Patients with KCOTs associated with root resorption were significantly older, whereas patients associated with unerupted teeth were significantly younger. 69% displaced teeth, 41% resorbed them and 56% were associated with unerupted teeth. All but two were followed up for at least 2 years. Three lesions recurred. Conclusions KCOTs in this community displayed some differences from those reported in the literature.

MacDonald-Jankowski, D S; Li, T K



Clinical features, epidemiology, and short-term outcomes of proliferative lupus nephritis in Eastern India  

PubMed Central

Race and ethnicity are important predictors of prognosis in lupus nephritis. This study was conducted to determine the clinical features, epidemiological profile, and short-term outcomes in patients of lupus nephritis from a single center in Eastern India. A total of 86 patients of class III/IV lupus nephritis were studied. Seventy-eight of them received cyclophosphamide for induction and eight of them received mycophenolate. The patients were evaluated for response, estimated glomerular filtration rate (eGFR), and proteinuria at 6 months. About 44% patients had a partial or complete response at 6 months and 64% at 1 year. The factors correlating with response at 6 months were older age at diagnosis, hypertension, activity, and chronicity indices and duration of symptoms prior to therapy. Chronicity index and hypertension were the predictors of response by logistic regression at 6 months. Compared to the Caucasian and African American patients, patients with proliferative lupus in Eastern India presented with a lower eGFR, lower proteinuria, and higher chronicity scores. Older age at diagnosis, hypertension, activity, chronicity indices, and duration of symptoms correlated with response. Short-term outcomes were similar to those described in Caucasian patients.

Sircar, D.; Sircar, G.; Waikhom, R.; Raychowdhury, A.; Pandey, R.



Distribution and clinical features of primary immunodeficiency diseases in Chinese children (2004-2009).  


Two hundred and one patients have been diagnosed with primary immunodeficiency diseases (PIDs) in our center from January 2004 to December 2009. The male-to-female ratio was 5.29:1. Spectrums of PIDs were as follows: predominantly antibody deficiency disease was the most common category (94 patients, 48.2%), followed by other well-defined immunodeficiency syndromes (40 patients, 20.5%), combined T and B cell immunodeficiencies (33 patients, 16.9%), congenital defects of phagocyte number and/or function (21 patients, 10.8%), and diseases of immune dysregulation (six patients, 3.1%). Agammaglobulinemia was the most frequent disease type. The median of diagnosis lag was 18.0 months. Pneumonia was the most common manifestation of PID patients. Some manifestations were prone to concentrate in certain diseases. As for therapy, 99 patients (50.8%) received intravenous immunoglobulin replacement therapy; 13 patients received hematopoietic stem cell transplantation and nine of them were still alive. In this study, we sought to describe and analyze the distribution, clinical features, and therapy methods of PIDs among children diagnosed in our country and to compare with reports from other countries and regions. PMID:21243521

Wang, Lin-Lin; Jin, Ying-Ying; Hao, Yi-Qun; Wang, Juan-Juan; Yao, Chun-Mei; Wang, Xi; Cao, Rui-Ming; Zhang, Hui; Chen, Yi; Chen, Tong-Xin



The relationship between radiological features and clinical manifestation and dental expenses of keratocystic odontogenic tumor  

PubMed Central

Purpose This study was performed to identify correlations between keratocystic odontogenic tumor (KCOT) data from CT sections, and data on the KCOT clinical manifestation and resulting dental expenses. Materials and Methods Following local Institutional Review Board (IRB) approval, a seven-years of retrospective study was performed regarding patients with KCOTs treated at the Seoul National University Dental Hospital. A total of 180 KCOT were included in this study. The following information was collected: age, gender, location and size of the lesion, radiological features, surgical treatment provided and dental expenses. Results There was no significant association between the size of the KCOT and age, gender, and presenting preoperative symptoms. In both jaws, it was unusual to find KCOTs under 10 mm. The correlation between the number of teeth removed and the size of the KCOT in the tooth bearing area was statistically significant in the mandible, whereas in the maxilla, no significant relationship was found. Dental expenses compared with the size of the KCOT were found to be significant in both jaws. Conclusion The size of KCOT was associated with a significant increase in dental expenses for both jaws and the number of teeth removed from the mandible. These findings emphasize the importance of routine examinations and early detection of lesions, which in turn helps preserving anatomical structures and reducing dental expenses.

Min, Jung-Hyun; Huh, Kyung-Hoe; Heo, Min-Suk; Choi, Soon-Chul; Yi, Won-Jin; Bae, Kwang-Hak; Choi, Jin-Woo



Genetic Analysis of Three Korean Patients with Clinical Features of Ehlers-Danlos Syndrome Type IV  

PubMed Central

Ehlers-Danlos syndrome (EDS) is a hereditary disorder of the connective tissue. EDS type IV (EDS IV), the vascular type of the disease, is characterized by easy bruising, thin skin with visible veins, and spontaneous rupture of the large arteries, uterus, or bowel. EDS IV is caused by mutations in the gene for type III procollagen (COL3A1). However, recent studies suggest that the causative mutation of EDS IV is not homogeneous. We report our experience with three patients presenting with clinical features of type IV EDS. A 48-yr-old woman presented with acute aortic dissection (patient 1) and 36-yr-old and 21-yr-old women presented with carotid-cavernous fistula (patients 2 and 3, respectively). All three patients bruised easily. Two patients (patients 1 and 3) had thin transparent skin with visible veins. Genetic analysis of COL3A1 revealed a Gly732Val (c.2195G>T) mutation in patient 1 and a duplication of 15 base pairs (c.3221_3235dup) which resulted in an interposition of five amino acids (p.Gly1074_Pro1078dup) in patient 2. However, no mutations were observed in COL3A1 or transforming growth factor ? receptors 1 and 2 in patients 3, which might be either due to a deletion of single or multiple exons in the COL3A1 gene or due to a genetic heterogeneity. This is the first report of genetically confirmed cases of EDS IV in Korea.

Yang, Jeong Hoon; Lee, Seung-Tae; Kim, Jee-Ah; Kim, Sung Hae; Jang, Shin-Yi; Ki, Chang-Seok



Clinical features of central isolated unilateral foot drop: A case report and review of the literature  

PubMed Central

Background: Intracranial cause of isolated unilateral foot drop is very rare. There may be a delay in the diagnosis of the cause of central foot drop or patients with such lesions might be misdiagnosed and subjected to unnecessary interventions. One of the reasons for the diagnostic uncertainty might be the absence of upper motor neuron (UMN) signs in the initial examination of such patients. Case Description: We present a very rare case of a 78-year-old woman who had presented with a five-year progressive right-sided unilateral isolated foot drop from a left-sided parasagittal tumor. Previously, she had undergone biopsy of an abnormality on the right C7/T1 facet, which was found to be benign. On examination of the patient, she had UMN signs in the ipsilateral foot. On magnetic resonance imaging scan of her head, a 3-cm left parasagittal lesion, consistent with it being a meningioma, was noted. The patient had significant medical history and declined to undergo surgical removal of the lesion. Conclusion: We review the literature on central foot drop from various intracranial pathologies and discern its clinical features. Patients with central foot drop often have UMN signs; however, these may be absent causing diagnostic uncertainty, and physicians should be vigilant of these variations in the presentation.

Narenthiran, Ganesalingam; Leach, Paul; Holland, Jeremy P.



Amitraz poisoning, an emerging problem: epidemiology, clinical features, management, and preventive strategies  

PubMed Central

Background: Amitraz is a pharmaceutical, veterinary, and agricultural product which is used worldwide under numerous generic names as an acaricide and insecticide. Because of its widespread use amitraz poisoning has come emerged as a cause of childhood poisoning during the past decade, particularly more in certain countries such as Turkey. Aims and Methods: To report the clinical features, the management, and the preventive strategies of amitraz poisoning in nine children, and review the previously reported 137 cases in humans. Results: Five male and four female children aged 10 months to 8 years were admitted to our department. The estimated ingested dose ranged between 89.2 and 163 mg/kg and estimated time from ingestion to presentation was 30–120 minutes. The initial signs and symptoms were impaired consciousness, drowsiness, vomiting, disorientation, miosis, mydriasis, hypotension, bradycardia, tachypnoea, hypothermia, and generalised seizures. Hyperglycaemia, glycosuria, and minimal increase in transaminase levels were observed. None required mechanical ventilation. CNS depression resolved spontaneously within 4–28 hours in all. The length of hospital stay was two to three days; all had a good outcome. Conclusion: This review details preventive measures and management strategies of amitraz poisoning, including the importance of following patients closely in the intensive care unit, monitoring their respiratory, cardiovascular, and central nervous systems since they may occasionally experience serious cardiopulmonary side effects.

Yilmaz, H; Yildizdas, D



Early Reconstruction of Orbital Roof Fractures: Clinical Features and Treatment Outcomes  

PubMed Central

Background Orbital roof fractures are frequently associated with a high energy impact to the craniofacial region, and displaced orbital roof fractures can cause ophthalmic and neurologic complications and occasionally require open surgical intervention. The purpose of this article was to investigate the clinical features and treatment outcomes of orbital root fractures combined with neurologic injuries after early reconstruction. Methods Between January 2006 and December 2008, 45 patients with orbital roof fractures were admitted; among them, 37 patients were treated conservatively and 8 patients underwent early surgical intervention for orbital roof fractures. The type of injuries that caused the fractures, patient characteristics, associated fractures, ocular and neurological injuries, patient management, and treatment outcomes were investigated. Results The patients underwent frontal craniotomy and free bone fragment removal, their orbital roofs were reconstructed with titanium micromesh, and associated fractures were repaired. The mean follow up period was 11 months. There were no postoperative neurologic sequelae. Postoperative computed tomography scans showed anatomically reconstructed orbital roofs. Two of the five patients with traumatic optic neuropathy achieved full visual acuity recovery, one patient showed decreased visual acuity, and the other two patients completely lost their vision due to traumatic optic neuropathy. Preoperative ophthalmic symptoms, such as proptosis, diplopia, upper eyelid ptosis, and enophthalmos were corrected. Conclusions Early recognition and treatment of orbital roof fractures can reduce intracranial and ocular complications. A coronal flap with frontal craniotomy and orbital roof reconstruction using titanium mesh provides a versatile method and provides good functional and cosmetic results.

Kim, Jin Woo; Kim, Woo Seob; Kim, Han Koo



High altitude pulmonary edema-clinical features, pathophysiology, prevention and treatment.  


High altitude pulmonary edema (HAPE) is a noncardiogenic pulmonary edema which typically occurs in lowlanders who ascend rapidly to altitudes greater than 2500-3000 m. Early symptoms of HAPE include a nonproductive cough, dyspnoea on exertion and reduced exercise performance. Later, dyspnoea occurs at rest. Clinical features are cyanosis, tachycardia, tachypnoea and elevated body temperature generally not exceeding 38.5°C. Rales are discrete initially and located over the middle lung fields. HAPE mainly occurs due to exaggerated hypoxic pulmonary vasoconstriction and elevated pulmonary artery pressure. It has been observed that HAPE is a high permeability type of edema occurring also due to leaks in the capillary wall ('stress failure'). Slow descent is the most effective method for prevention; in addition, graded ascent and time for acclimatization, low sleeping altitudes, avoidance of alcohol and sleeping pills, and avoidance of exercise are the key to preventing HAPE. Treatment of HAPE consists of immediate improvement of oxygenation either by supplemental oxygen, hyperbaric treatment, or by rapid descent. PMID:23580834

Paralikar, Swapnil J



Chronic and remitting painful diabetic polyneuropathy. Correlations with clinical features and subsequent changes in neurophysiology.  


Twenty-nine diabetic patients (19 men, 10 women) aged 19-71 yr with newly developed painful polyneuropathy were studied prospectively for 12-18 mo. Pain remitted completely in 16 patients within 12 mo, but continued in the other 13 patients. At presentation, no differences were found in the type or prevalence of symptoms or neurophysiological measurements (electrophysiology and cardiovascular autonomic function tests) between the patients whose pain remitted and those whose pain continued. Most electrophysiological measurements improved slightly in remitting patients but deteriorated slightly in those whose pain continued to reveal a significant difference (P less than .05) between the groups on final review. Similarly, abnormal autonomic nerve function improved slightly when pain remitted but worsened or persisted in patients whose pain continued, again revealing a significant difference between the groups (P less than .05) on final review. We also observed that pain remission usually occurred if the onset of symptoms shortly followed some sudden metabolic change (e.g., rapid improvement in glycemic control, ketoacidosis, anorexia nervosa) when the duration of diabetes was relatively short or when considerable weight loss preceded the onset of pain. We suggest that remitting and chronic painful diabetic polyneuropathy have distinctive clinical features at presentation and detectable neurophysiological differences during their symptomatic evolution. PMID:3338378

Young, R J; Ewing, D J; Clarke, B F



Clinical features and outcomes of Hodgkin’s lymphoma in Korea: Consortium for Improving Survival of Lymphoma (CISL)  

Microsoft Academic Search

Ethnic and regional differences in the epidemiology and pathological aspects of Hodgkin’s lymphoma (HL) between Western and\\u000a Asian patients may be associated with differences in clinical features and prognosis. We retrospectively analyzed the clinical\\u000a and histopathological characteristics, therapeutic outcomes, and prognostic factors of 539 HL patients treated at 16 centers\\u000a in Korea. We found that the incidence of histological subtypes

Young-Woong Won; Jung Hye Kwon; Soon Il Lee; Sung Yong Oh; Won Seog Kim; Seok Jin Kim; Jong-Ho Won; Kyoung Ha Kim; Seong Kyu Park; Jin Seok Kim; Cheolwon Suh; Dok Hyun Yoon; Joon Seong Park; Min Kyoung Kim; Hawk Kim; Hye Jin Kang; Yeung-Chul Mun; Jae-Yong Kwak; Hyo Jung Kim; Hyeon-Seok Eom


Pregnancy and Systemic Lupus Erythematosus: Review of Clinical Features and Outcome of 51 Pregnancies at a Single Institution  

Microsoft Academic Search

Systemic lupus erythematosus (SLE) is mainly a disease of fertile women and the coexistence of pregnancy is by no means a\\u000a rare event. How SLE and its treatment affects pregnancy outcome is still a matter of debate. Assessment of the reciprocal\\u000a clinical impact of SLE and pregnancy was investigated in a cohort study. We reviewed the clinical features, treatment, and

Graziela Carvalheiras; Pedro Vita; Susana Marta; Rita Trovão; Fátima Farinha; Jorge Braga; Guilherme Rocha; Isabel Almeida; António Marinho; Teresa Mendonça; Paulo Barbosa; João Correia; Carlos Vasconcelos



Comparative Study of the Clinical Features and Treatment for Right and Left Colonic Diverticulitis  

PubMed Central

Purpose Colonic diverticulitis is an uncommon disease in Korea, but the incidence of the disease is increasing. The right colon is the more preferred site for diverticulitis in Korea, but the incidence of left diverticulitis is increasing. Therefore, comparing the clinical features and treatments for right diverticulitis with those for left diverticulitis may help us to treat the disease more properly. Methods This study was performed retrospectively by reviewing the medical records of 96 patients with colonic diverticulitis, in whom either conservative or operative treatments were performed. Results Eighty-six patients had right diverticulitis (RD), and 10 patients had left diverticulitis (LD). The mean age of the patients was older for LD. Sixteen patients (18.6%) with RD had complications, and 7 patients (8.1%) underwent operations. On the other hand, 4 patients (40%) with LD had complications, and 3 patients (30%) underwent operations. The rates of complications and operations among old-aged patients were higher. The operations for 7 patients with RD who underwent surgery were 6 ileocecectomies and 1 diverticulectomy. On the other hand, the operations for the 3 patients with LD who underwent surgery were 2 resections and anastomoses and 1 diverticulectomy. The reasons for the operations were abscess formation, recurrence, perforation, and development of generalized peritonitis without response to conservative treatment. Conclusion The incidence of LD is lower than that of RD in Korea, but the rate of complications and operations seems higher in LD. Therefore, patients who complain of left lower abdominal pain need to be thoroughly examined for LD.

Kim, Seok Hoon; Cha, Jin Woo; Choi, Seok Ho; Kho, Young Taek; Seo, Dong Yup



[Slowly progressive fluent aphasia--clinical features and an imaging study including MRI, SPECT and PET].  


Three cases of slowly progressive fluent aphasia were presented. In all it began with word amnesia or stuttering, and in one to five years impairment of auditory comprehension, and reading and writing difficulties with kanji (Japanese morphograms) appeared. The neuropsychological and radiological findings were as follows: Case 1: a right-handed 65-year-old man showed severe fluent aphasia (the Western Aphasia Battery profile was rated as corresponding to Wernicke's aphasia but his score on the Token test was too high for Wernicke's aphasia) and memory disturbance. Cortical atrophy was prominent in the left temporal and parietal lobes. Hypoperfusion was evident in the bilateral anterior temporal region, suggesting the diagnosis of Pick's disease. Case 2: a right-handed 42-year-old man presented amnesic aphasia with buccofacial and ideomotor apraxia. The left frontal, temporal and parietal lobes were all atrophic. Hypoperfusion was marked in the left perisylvian and temporo-parietal regions, being similar to the pattern of Mesulam's slowly progressive aphasia. Case 3: a right-handed 55-year-old man with amnesic aphasia. Left-side dominant cortical atrophy involved the frontal, temporal and parietal lobes. The metabolic rate was lower in the left anterior temporal lobe, compatible with the finding in Pick's disease. The common clinical features of these patients were selective deficits in vocabulary, resulting in impairment of confrontation naming, and auditory comprehension. They sometimes could not recognize things even when they were told their names; case 1 could not even point to objects on command, while their syntactic comprehension was well preserved.(ABSTRACT TRUNCATED AT 250 WORDS) PMID:1934763

Sakurai, Y; Momose, T; Watanabe, T; Bando, M; Ishikawa, T; Iwata, M



Clinical features differ substantially between caucasian and asian populations of marfan syndrome.  


Background:?Prevention of aortic dissection and sudden death in patients with Marfan syndrome (MFS) requires accurate diagnosis. MFS is diagnosed by the Ghent criteria, which are primarily based on clinical features of Caucasian MFS populations. We determined whether the Ghent criteria apply to Asian MFS populations. Methods and Results:?In this multicenter study, we included 255 adult MFS patients according to the Ghent criteria of 2010. Patients were excluded if they were neither Caucasian nor Asian. The Asian MFS population (n=49) had a smaller body surface area (BSA: 1.8m² vs. 2.0m², P<0.001), a more severely affected aortic root (absolute aortic diameter: 42.9mm vs. 43.3mm, P=0.802; corrected for BSA: 24.9mm vs. 21.7mm, P<0.001; Z-score: 4.5 vs. 3.6, P=0.013), and more often a positive systemic score (75.5% vs. 60.0%, P=0.045), but less frequently ectopia lentis (24.5% vs. 48.1%, P=0.004) compared with the Caucasian population (n=206). Conclusions:?The Ghent criteria do not necessarily apply to Asian MFS populations, resulting in a more severely affected cardiovascular system. This may be related to under diagnosis of MFS by multiple factors, including the use of Z-score, and genetic and racial differences. The Ghent criteria should be adapted for Asian populations in order to accurately diagnose MFS.??(Circ J?2013; 77: 2793-2798). PMID:23986082

Franken, Romy; den Hartog, Alexander W; van de Riet, Liz; Timmermans, Janneke; Scholte, Arthur J; van den Berg, Maarten P; de Waard, Vivian; Zwinderman, Aeilko H; Groenink, Maarten; Yip, James W; Mulder, Barbara J M



Clinical features of bacteremia caused by methicillin-resistant Staphylococcus aureus in a tertiary hospital.  


Methicillin-resistant Staphylococcus aureus (MRSA) has become a leading cause of infections in both the community and in hospitals. MRSA bacteremia is a serious infection with a very high mortality rate. The aim of this study was to assess the clinical features of MRSA bacteremia and to evaluate predictors of mortality in patients with this infection. The medical records of 83 patients with MRSA bacteremia, who had been admitted to Nagasaki University Hospital between January 2003 and December 2007, were retrospectively reviewed. Underlying disease, presumed source, MRSA sensitivity, Staphylococcal cassette chromosome mec (SCCmec) types, virulence genes and prognosis were evaluated. Of the 83 patients (44 men and 39 women; mean age: 63.7 years) with MRSA bacteremia, 30 (36.1%) had malignancy and 25 (30.1%) had been treated with immunosuppressive drugs. Fifteen patients (18.1%) were intravascular catheter related. SCCmec typeII accounted for 80% of SCCmec types of MRSA isolates. The mortality rate was 39.8% (33/83), which is similar to that of previous reports. The ratio of males to females, the mean age or the body temperature did not differ between survivors and nonsurvivors. Independent predictors associated with mortality in the multivariate analyses are pneumonia (P = 0.016), treatment with VCM (P = 0.039), and transplantation (P = 0.021). We suggest that poor prognosis achieved with VCM is in part due to its low blood concentration and poor tissue penetration. VCM should not be selected when presumed source of MRSA bacteremia is pneumonia. PMID:21551983

Yamada, Koichi; Yanagihara, Katsunori; Hara, Yukiko; Araki, Nobuko; Harada, Yousuke; Morinaga, Yoshitomo; Matsuda, Junichi; Izumikawa, Koichi; Seki, Masafumi; Kakeya, Hiroshi; Yamamoto, Yoshihiro; Kohno, Shigeru; Kamihira, Shimeru



Incidence, Clinical, Microbiological Features and Outcome of Bloodstream Infections in Patients Undergoing Hemodialysis  

PubMed Central

Objectives: Infection is a common cause of death among hemodialysis patients. The study investigated incidence, risk factors, clinical features and outcome of bloodstream infections (BSIs) in haemodialysis patients. Methods: The records of haemodialysis patients from 1999 to 2005 were reviewed. Risk factors were investigated by multivariate analysis. Results: There were identified 148 bacteremic episodes, in 102 patients. The BSI rate was 0.52 per 1000 patient-days. Of the 148 episodes, 34 occurred in patients with permanent fistulae (0.18/1000 patient-days); 19 in patients with grafts (0.39/1000 patient-days); 28 in patients with permanent tunneled central catheters (1.03/1000 patient-days); and 67 in those with temporary-catheter (3.18/1000 patient-days). With fistula as reference, the BSI ratio was 1.84 with arteriovenous graft (P=.029), 4.85 with permanent central venous catheter (P<.001), and 14.88 with temporary catheter (P <.001). Catheter related were 41 episodes (28%). Gram positive organism were responsible for 96 episodes (65%), with S. aureus ( 55%) the most frequent, followed by S. epidermidis (26%) and Gram-negative for 36 (23%), with E. coli (39%) the most frequent. Infection was polymicrobial in 14 (9.5%). Diabetes (p<0.001), low serum albumin (p=0.040) and low hemoglobin (p<0.001) were significant risk factors. During hospitalization 18 patients (18%) died. Septic shock (p<0.001) and polymicrobial infection (p=0.041) were associated with in-hospital mortality. Conclusion: The risk of BSI in patients undergoing hemodialysis is related to the catheter type and vascular access. Septic shock and polymicrobial infection predispose to unfavourable outcome.

Fysaraki, Maria; Samonis, George; Valachis, Antonis; Daphnis, Eugenios; Karageorgopoulos, Drosos E.; Falagas, Matthew E.; Stylianou, Kostas; Kofteridis, Diamantis P.



Pneumonia complicating pandemic (H1N1) 2009: risk factors, clinical features, and outcomes.  


We performed an observational analysis of a prospective cohort of adults hospitalized for pandemic (H1N1) 2009 at 13 Spanish hospitals, from June to November 2009, to determine the risk factors, clinical features, and outcomes of pneumonia. Of 585 patients requiring hospitalization, chest radiography was obtained in 542. A total of 234 (43.1%) patients had pneumonia, of whom 210 underwent bacterial microbiologic studies. Of these patients, 174 (82.8%) had primary viral pneumonia and 36 (17.2%) had concomitant/secondary bacterial pneumonia. Bilateral pneumonia occurred in 48.3% of patients. Streptococcus pneumoniae was the most frequent pathogen among patients with bacterial pneumonia (26 of 36 patients). None of them had received pneumococcal vaccine. Compared with patients without pneumonia, those with pneumonia more frequently had shock during hospitalization (9.8% vs. 1%; p < 0.001), required intensive care unit admission (22.6% vs. 5.8%; p < 0.001), underwent mechanical ventilation (17.9% vs. 3.2%; p < 0.001), and had longer length of hospital stay (median, 7 d vs. 5 d; p < 0.001). In-hospital mortality was higher in patients with pneumonia than in the others (5.2% vs. 0%; p < 0.001). Absence of comorbid conditions (odds ratio [OR], 2.07; 95% confidence interval [CI], 1.32-3.24) was found to be an independent risk factor for pneumonia, whereas early (? 48 h) oseltamivir therapy (OR, 0.29; 95% CI, 0.19-0.46) was a protective factor. In conclusion, pneumonia is a frequent complication among adults hospitalized for pandemic (H1N1) 2009 and causes significant morbidity. Mortality in pandemic (H1N1) 2009 is low, but occurs mainly in patients with pneumonia. Early oseltamivir therapy is a protective factor for this complication. PMID:21862936

Viasus, Diego; Paño-Pardo, José Ramón; Pachón, Jerónimo; Riera, Melchor; López-Medrano, Francisco; Payeras, Antoni; Fariñas, M Carmen; Moreno, Asunción; Rodríguez-Baño, Jesús; Oteo, José Antonio; Martínez-Montauti, Joaquín; Torre-Cisneros, Julián; Segura, Ferrán; Gudiol, Francesc; Carratalà, Jordi



Clinical features of single and repeated globe rupture after penetrating keratoplasty  

PubMed Central

Background In this paper, we report our experience of the clinical features of single and repeated globe rupture after penetrating keratoplasty. Methods We undertook a retrospective analysis of single and repeated globe ruptures following keratoplasty in eight eyes from seven consecutive patients referred to Kanazawa University Hospital over a 10-year period from January 2002 to March 2012. We analyzed their ophthalmic and demographic data, including age at time of globe rupture, incidence, time interval between keratoplasty and globe rupture, cause of rupture, complicated ocular damage, and visual outcome after surgical repair. Results Five patients (71.4%) experienced a single globe rupture and two patients (28.6%) experienced repeated globe ruptures. Patient age at the time of globe rupture was 75.4 ± 6.8 (range 67–83) years. Four of the patients were men and three were women. During the 10-year study period, the incidence of globe rupture following penetrating keratoplasty was 2.8%. The time interval between penetrating keratoplasty and globe rupture was 101 ± 92 months (range 7 months to 23 years). The most common cause of globe rupture in older patients was a fall (n = 5, 79.8 ± 3.7 years, all older than 67 years). Final best-corrected visual acuity was >20/200 in three eyes (37.5%). In all except one eye, globe rupture involved the graft-host junction; in the remaining eye, the rupture occurred after disruption of the extracapsular cataract extraction wound by blunt trauma. Conclusion Preventative measures should be taken to avoid single and repeated ocular trauma following penetrating keratoplasty.

Murata, Noriaki; Yokogawa, Hideaki; Kobayashi, Akira; Yamazaki, Natsuko; Sugiyama, Kazuhisa



Surgical Management of Retinal Detachment Secondary to Acute Retinal Necrosis: Clinical Features, Surgical Techniques, and Long-term Results  

Microsoft Academic Search

Purpose: To describe the clinical features of complicated retinal detachment secondary to acute retinal necrosis (ARN) and to present the long-term results of vitreous surgery in these cases. Methods: A retrospective study was conducted on 16 immunocompetent patients (18 eyes). The average follow-up period was 60 months. Results: Proliferative vitreoretinopathy (PVR) grade C, with the predominance of anterior PVR, and

Hamid Ahmadieh; Masoud Soheilian; Mohsen Azarmina; Mohammad H. Dehghan; Arman Mashayekhi


Anal endosonography for assessment of anal incontinence with a linear probe: relationships with clinical and manometric features  

Microsoft Academic Search

Background and aims: This study determined correlations of clinical and manometric features with those of anal endosonography (AES). Patients and methods: Between 1996 and 1999 we examined 58 patients suffering from anal incontinence (AI) by AES using a linear probe and anorectal manometry following a standardized protocol. Results: Twelve of the 58 patients (21%) had a history of anal surgery.

M. Barthet; P. Bellon; E. Abou; F. Portier; S. Berdah; N. Lesavre; P. Orsoni; M. Bouvier; J. C. Grimaud



High Prevalence of Polycystic Ovaries and Associated Clinical, Endocrine, and Metabolic Features in Women with Previous Gestational Diabetes Mellitus  

Microsoft Academic Search

The prevalence of polycystic ovaries, according to ultrasonography, and associated clinical, endocrine, and metabolic features were in- vestigated in women with previous gestational diabetes mellitus (GDM). Thirty-four women with GDM 3-5 yr before the investigation and 36 controls with uncomplicated pregnancies, selected for similar age, parity, and date of delivery, were investigated. The women with previous GDM showed a higher




Clinical and neuropathological features of a neurodegenerative disorder in the central nervous system with progressive head drooping ( Kubisagari )  

Microsoft Academic Search

The clinical and neuropathological features of a case of a neurodegenerative disorder with pronounced and progressive head drooping, in Japanese Kubisagari, are reported. This female patient died at the age of 72 years after an approximately 20-year history of peculiar posture with progressive head drooping (Kubisagari) and lordosis (bowed posture), parkinsonism, dysphonia and slight muscle wasting of the face, tongue,

Naoki Nakao; Ko Sahashi; Masahiko Takahashi; Tohru Ibi; Yoshio Hashizume



Comparison of the clinical, microbiological, radiological and haematological features of foals with pneumonia caused by Rhodococcus equi and other bacteria  

Microsoft Academic Search

The purpose of this study was to compare the clinical, microbiological, radiological, haematological and cytological features of foals with pneumonia caused by Rhodococcus equi infection and with other bacteria, in order to provide markers for early diagnosis and treatment. A retrospective study of 113 cases of bacterial pneumonia was undertaken.Although there was considerable overlap in the affected populations, foals with

Mathilde Leclere; K. Gary Magdesian; Philip H. Kass; Nicola Pusterla; Diane M. Rhodes



Clinical features of patients with anorexia nervosa: Assessment of factors influencing the duration of in-patient treatment  

Microsoft Academic Search

We investigated that factors affecting the duration of in-patient treatment of patients with anorexia nervosa by comparing pretreatment clinical features with the length of hospitalization in 55 patients. Only patients who had completed the entire course of treatment were included in our analysis. Longer hospitalization was correlated with: poor social adaptation; anxiety and\\/or personality disorders before onset; older age at

Shin-Ichi Nozoe; Yuji Soejima; Mitsuki Yoshioka; Tetsurou Naruo; Akinori Masuda; Nobuatsu Nagai; Hiromitsu Tanaka



Quantitation of Bacteria in Bone Marrow from Patients with Typhoid Fever: Relationship between Counts and Clinical Features  

Microsoft Academic Search

Enteric fever is the only bacterial infection of humans for which bone marrow examination is routinely recommended. A prospective study of the concentrations of bacteria in the bone marrow and their relationship to clinical features was conducted with 120 Vietnamese patients with suspected enteric fever, of whom 89 had confirmed typhoid fever. Ninety-three percent of the Salmonella enterica serovar Typhi

JOHN WAIN; P. V. B. Bay; H. Vinh; N. M. Duong; T. S. Diep; A. L. Walsh; C. M. Parry; R. P. Hasserjian; V. A. Ho; T. T. Hien; J. Farrar; N. J. White; N. P. J. Day



Serum high mobility group box-1 (HMGB1) is closely associated with the clinical and pathologic features of gastric cancer  

Microsoft Academic Search

BACKGROUND: High mobility group box-1 (HMGB1) is a newly recognized factor regulating cancer cell tumorigenesis, expansion and invasion. We investigated the correlation between the serum HMGB1 levels and the clinical and pathologic features of gastric cancer and evaluated the validity of HMGB1 as a potential biomarker for the early diagnosis of gastric cancer. METHODS: A total of 227 subjects were

Hye Won Chung; Sang-Guk Lee; Heejung Kim; Duck Jin Hong; Jae Bock Chung; David Stroncek; Jong-Baeck Lim



Intraductal papillary-mucinous tumors of the pancreas: Clinicopathologic features, outcome, and nomenclature. Members of the Pancreas Clinic, and Pancreatic Surgeons of Mayo Clinic  

Microsoft Academic Search

BACKGROUND & AIMS: Intraductal papillary-mucinous tumor (IPMT) of the pancreatic ducts is increasingly recognized. This study investigated if clinical, imaging, or, histological features predicated outcome, formulated a treatment algorithm, and clarified relationships among IPMT, mucinous cystic neoplasms of the pancreas (MCN), and chronic pancreatitis. METHODS: The medical records, radiographs, and pathological specimens of 15 patients with IPMT (dilated main pancreatic

EV Loftus; BA Olivares-Pakzad; KP Batts; MC Adkins; DH Stephens; MG Sarr; EP DiMagno



Ten patient stories illustrating the extraordinarily diverse clinical features of patients with thrombotic thrombocytopenic purpura and severe ADAMTS13 deficiency.  


Patients with thrombotic thrombocytopenic purpura (TTP) and severe ADAMTS13 deficiency are often considered to have typical clinical features. However, our experience is that there is extraordinary diversity of the presenting features and the clinical courses of these patients. This diversity is illustrated by descriptions of 10 patients. The patients illustrate that ADAMTS13 activity may be normal initially but severely deficient in subsequent episodes. Patients with established diagnoses of systemic infection as the cause of their clinical features may have undetectable ADAMTS13 activity. Patients may have a prolonged prodrome of mild symptoms with only microangiopathic hemolytic anemia and thrombocytopenia or they may have the sudden onset of critical illness with multiple organ involvement. Patients may die rapidly or recover rapidly; they may require minimal treatment or extensive and prolonged treatment. Patients may have acute and severe neurologic abnormalities before microangiopathic hemolytic anemia and thrombocytopenia occur. Patients may have concurrent TTP and systemic lupus erythematosus. Patients may have hereditary ADAMTS13 deficiency as the etiology of their TTP rather than acquired autoimmune ADAMTS13 deficiency. These patients' stories illustrate the clinical spectrum of TTP with ADAMTS13 deficiency and emphasize the difficulties of clinical diagnosis. PMID:22927184

George, James N; Chen, Qiaofang; Deford, Cassie C; Al-Nouri, Zayd



Neurocognitive Features of Attention Deficit Hyperactivity Disorder in a Non-Clinical Adult Sample.  

National Technical Information Service (NTIS)

Cognitive difficulties are frequently documented in clinical Attention Deficit Hyperactivity Disorder (ADHD) samples. Whether these cognitive weaknesses are associated with ADHD symptoms in non-clinical samples is unknown. The current study examined the r...

S. Kim



Characterization of immunoglobulin ? light chain variable region (IGLV) gene and its relationship with clinical features in patients with POEMS syndrome.  


The M protein of POEMS syndrome is essentially ? light chain restricted. Several studies have demonstrated the restrict usage of immunoglobulin ? light chain variable region (IGLV) genes in patients with POEMS syndrome. However, these studies only included a limited number of cases, and it is not clear whether the clinical features are influenced by the IGLV gene in POEMS syndrome. Here we demonstrated that the clonal IGLV genes were strictly derived from IGLV 1-40 (11 patients, 36.7 %) and IGLV 1-44 (19, 63.3 %) gene in 30 patients with POEMS syndrome. We further evaluated the relationship between clinical features and IGLV genes. Our study showed that patients with IGLV 1-44 were older than those with IGLV 1-40, and patients with IGLV 1-40 had more severe neuropathy, hypertrichosis, and papilledema. It was suggested that the IGLV gene influenced clinical characteristics in POEMS syndrome. PMID:22453306

Li, Jian; Huang, Zhen; Duan, Ming-hui; Zhang, Wei; Chen, Miao; Cao, Xin-xin; Guan, Hong-zhi; Tian, Zhuang; Zhou, Dao-bin



MR of CNS Sarcoidosis: Correlation of Imaging Features to Clinical Symptoms and Response to Treatment  

Microsoft Academic Search

BACKGROUND AND PURPOSE: Sarcoidosis is an idiopathic systemic granulomatous dis- ease, recognized in a patient when clinical and radiologic findings are confirmed by histopath- ologic analysis. The objective was to identify a relationship between MR imaging and clinical findings in CNS sarcoidosis. METHODS: The clinical charts of 461 patients with biopsy-proved sarcoidosis were reviewed retrospectively. Criteria for including patients in

Greg A. Christoforidis; Eric M. Spickler; Maria V. Recio; Bharat M. Mehta