Difficult Diagnosis between B Cell Lymphoma and Classical Hodgkin's Lymphoma.

PubMed

Rentas Torres, Yaixa; Rodríguez-López, Joshua L; Valentin, Maria; Silva, Hector

2015-01-01

Although primary mediastinal large B-cell lymphoma and classic Hodgkin lymphoma of nodular sclerosis type are distinct disease, they share several clinical characteristics and biologic features. However, there are mediastinal lymphomas that not fit in either category. These types of lymphomas are recognized as mediastinal gray zone lymphomas. Gray zone lymphomas are lymphatic tumors that cannot be assigned to a defined lymphoma entity due to morphological, clinical, or genetic reasons. In this report, we present a case of a 22 year-old-Hispanic-female diagnosed with B-cell lymphoma, unclassifiable, with features intermediate between diffuse large B-cell lymphoma and Hodgkin lymphoma.

Psoriasis or not? Review of 51 clinically confirmed cases reveals an expanded histopathologic spectrum of psoriasis.

PubMed

Chau, Thinh; Parsi, Kory K; Ogawa, Toru; Kiuru, Maija; Konia, Thomas; Li, Chin-Shang; Fung, Maxwell A

2017-12-01

Psoriasis is usually diagnosed clinically, so only non-classic or refractory cases tend to be biopsied. Diagnostic uncertainty persists when dermatopathologists encounter features regarded as non-classic for psoriasis. Define and document classic and non-classic histologic features in skin biopsies from patients with clinically confirmed psoriasis. Minimal clinical diagnostic criteria were informally validated and applied to a consecutive series of biopsies histologically consistent with psoriasis. Clinical confirmation required 2 of the following criteria: (1) classic morphology, (2) classic distribution, (3) nail pitting, and (4) family history, with #1 and/or #2 as 1 criterion in every case RESULTS: Fifty-one biopsies from 46 patients were examined. Classic features of psoriasis included hypogranulosis (96%), club-shaped rete ridges (96%), dermal papilla capillary ectasia (90%), Munro microabscess (78%), suprapapillary plate thinning (63%), spongiform pustules (53%), and regular acanthosis (14%). Non-classic features included irregular acanthosis (84%), junctional vacuolar alteration (76%), spongiosis (76%), dermal neutrophils (69%), necrotic keratinocytes (67%), hypergranulosis (65%), neutrophilic spongiosis (61%), dermal eosinophils (49%), compact orthokeratosis (37%), papillary dermal fibrosis (35%), lichenoid infiltrate (25%), plasma cells (16%), and eosinophilic spongiosis (8%). Psoriasis exhibits a broader histopathologic spectrum. The presence of some non-classic features does not necessarily exclude the possibility of psoriasis. © 2017 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

Meta-analysis of diagnostic test data: a bivariate Bayesian modeling approach.

PubMed

Verde, Pablo E

2010-12-30

In the last decades, the amount of published results on clinical diagnostic tests has expanded very rapidly. The counterpart to this development has been the formal evaluation and synthesis of diagnostic results. However, published results present substantial heterogeneity and they can be regarded as so far removed from the classical domain of meta-analysis, that they can provide a rather severe test of classical statistical methods. Recently, bivariate random effects meta-analytic methods, which model the pairs of sensitivities and specificities, have been presented from the classical point of view. In this work a bivariate Bayesian modeling approach is presented. This approach substantially extends the scope of classical bivariate methods by allowing the structural distribution of the random effects to depend on multiple sources of variability. Meta-analysis is summarized by the predictive posterior distributions for sensitivity and specificity. This new approach allows, also, to perform substantial model checking, model diagnostic and model selection. Statistical computations are implemented in the public domain statistical software (WinBUGS and R) and illustrated with real data examples. Copyright © 2010 John Wiley & Sons, Ltd.

Effectiveness of plasma lyso-Gb3 as a biomarker for selecting high-risk patients with Fabry disease from multispecialty clinics for genetic analysis.

PubMed

Maruyama, Hiroki; Miyata, Kaori; Mikame, Mariko; Taguchi, Atsumi; Guili, Chu; Shimura, Masaru; Murayama, Kei; Inoue, Takeshi; Yamamoto, Saori; Sugimura, Koichiro; Tamita, Koichi; Kawasaki, Toshihiro; Kajihara, Jun; Onishi, Akifumi; Sugiyama, Hitoshi; Sakai, Teiko; Murata, Ichijiro; Oda, Takamasa; Toyoda, Shigeru; Hanawa, Kenichiro; Fujimura, Takeo; Ura, Shigehisa; Matsumura, Mimiko; Takano, Hideki; Yamashita, Satoshi; Matsukura, Gaku; Tazawa, Ryushi; Shiga, Tsuyoshi; Ebato, Mio; Satoh, Hiroshi; Ishii, Satoshi

2018-03-15

PurposePlasma globotriaosylsphingosine (lyso-Gb3) is a promising secondary screening biomarker for Fabry disease. Here, we examined its applicability as a primary screening biomarker for classic and late-onset Fabry disease in males and females.MethodsBetween 1 July 2014 and 31 December 2015, we screened 2,360 patients (1,324 males) referred from 169 Japanese specialty clinics (cardiology, nephrology, neurology, and pediatrics), based on clinical symptoms suggestive of Fabry disease. We used the plasma lyso-Gb3 concentration, α-galactosidase A (α-Gal A) activity, and analysis of the α-Gal A gene (GLA) for primary and secondary screens, respectively.ResultsOf 8 males with elevated lyso-Gb3 levels (≥2.0 ng ml -1 ) and low α-Gal A activity (≤4.0 nmol h -1  ml -1 ), 7 presented a GLA mutation (2 classic and 5 late-onset). Of 15 females with elevated lyso-Gb3, 7 displayed low α-Gal A activity (5 with GLA mutations; 4 classic and 1 late-onset) and 8 exhibited normal α-Gal A activity (1 with a classic GLA mutation and 3 with genetic variants of uncertain significance).ConclusionPlasma lyso-Gb3 is a potential primary screening biomarker for classic and late-onset Fabry disease probands.Genet Med advance online publication, 15 March 2018; doi:10.1038/gim.2018.31.

Classic Kaposi's sarcoma presenting in the oral cavity of two HIV-negative Quechua patients.

PubMed

Mohanna, Salim; Bravo, Francisco; Ferrufino, Juan Carlos; Sanchez, Juvenal; Gotuzzo, Eduardo

2007-09-01

Traditionally, classic KS lesions have a general distribution, often involving the skin of the feet and legs, and to a lesser extent, that of the hands, arms, and trunk. Oral involvement is a rare manifestation. Initial oral involvement is an even rarer occurrence. We report two unusual cases of classic KS presenting in the oral cavity of two patients from indigenous origin; the first patient with primary oral KS lesion on the hard palate, with no other signs of the condition in any other region of the body; the second patient with generalized dermal KS lesions with lymph node and lower lip involvement. In conclusion, clinicians and pathologists should be aware of the typical clinical, gross, and histologic features of KS. Moreover, we would like to emphasize that oral KS may affect patients without AIDS or exposure to immunosuppression. The awareness of oral classic KS as a diagnostic possibility is important in the work-up of vascular lesions in the oral cavity of non-immunosuppressed individuals.

Tracking Silent Hypersensitivity Reactions to Asparaginase during Leukemia Therapy Using Single-Chip Indirect Plasmonic and Fluorescence Immunosensing.

PubMed

Charbonneau, David M; Breault-Turcot, Julien; Sinnett, Daniel; Krajinovic, Maja; Leclerc, Jean-Marie; Masson, Jean-François; Pelletier, Joelle N

2017-12-22

Microbial asparaginase is an essential component of chemotherapy for the treatment of childhood acute lymphoblastic leukemia (cALL). Silent hypersensitivity reactions to this microbial enzyme need to be monitored accurately during treatment to avoid adverse effects of the drug and its silent inactivation. Here, we present a dual-response anti-asparaginase sensor that combines indirect SPR and fluorescence on a single chip to perform ELISA-type immunosensing, and correlate measurements with classical ELISA. Analysis of serum samples from children undergoing cALL therapy revealed a clear correlation between single-chip indirect SPR/fluorescence immunosensing and ELISA used in clinical settings (R 2 > 0.9). We also report that the portable SPR/fluorescence system had a better sensitivity than classical ELISA to detect antibodies in clinical samples with low antigenicity. This work demonstrates the reliability of dual sensing for monitoring clinically relevant antibody titers in clinical serum samples.

Acute dysphagia in an octogenarian: an unusual case of tetanus.

PubMed

Giordano, Mauro; Ciarambino, Tiziana; Di Bella, Olimpia; Finelli, Angelo; Ferrara, Nicola; Paolisso, Giuseppe

2014-06-01

Tetanus is a major worldwide health problem, and its global incidence has been estimated to be approximately 1 million cases per year. In particular, tetanus is more frequent in the elderly as compared with adults. We report a case of an octogenarian who presented with dysphagia and tremors as the only clinical symptoms. During hospitalization, the patient's clinical conditions worsened rapidly, and, although in absence of the classic clinical presentation (trisma, nuchal rigidity, and opisthotonus), a diagnosis of tetanus was suspected. Thus, the patient underwent a tetanus immunoglobulin immunization and antibiotic therapy with excellent clinical recovery.

Novel cystathionine β-synthase gene mutations in a Filipino patient with classic homocystinuria.

PubMed

Silao, Catherine Lynn T; Fabella, Terence Diane F; Rama, Kahlil Izza D; Estrada, Sylvia C

2015-10-01

Classic homocystinuria due to cystathionine β-synthase (CBS) deficiency is an autosomal recessive disorder of sulfur metabolism. Clinical manifestations include mental retardation, dislocation of the optic lens (ectopia lentis), skeletal abnormalities and a tendency to thromboembolic episodes. We present the first mutational analysis of CBS in a Filipino patient with classic homocystinuria. Genomic DNA was extracted from peripheral blood collected from a diagnosed Filipino patient with classic homocystinuria. The entire coding region of CBS (17 exons) was amplified using polymerase chain reaction and bidirectionally sequenced using standard protocols. The patient was found to be compound heterozygous for two novel mutations, g.13995G>A [c.982G>A; p.D328K] and g.15860-15868dupGCAGGAGCT [c.1083-1091dupGCAGGAGCT; p. Q362-L364dupQEL]. Four known single-nucleotide polymorphisms (rs234706, rs1801181, rs706208 and rs706209) were also detected in the present patient's CBS. The patient was heterozygous for all the identified alleles. This is the first mutational analysis of CBS done in a Filipino patient with classic homocystinuria who presented with a novel duplication mutation and a novel missense mutation. Homocystinuria due to CBS deficiency is a heterogeneous disorder at the molecular level. © 2015 Japan Pediatric Society.

Jejunal perforation after abdominal liposuction, bilateral breast augmentation and facial fat grafting

PubMed Central

Coronado-Malagón, Martin; Tauffer-Carrion, Luis Tomas

2012-01-01

A 54-year-old woman presented to the emergency department 24 h after undergoing abdominal liposuction, bilateral breast augmentation and facial fat grafting at a private plastic surgery clinic. She presented with the classic evolution of a bowel perforation secondary to abdominal liposuction. A computed tomography (CT) scan found free air in her abdominal cavity. Based on the CT scan and the persistent pain experienced by the patient, an abdominal laparatomy was urgently performed. A jejunum perforation was found and was treated with a resection of the affected segment followed by intestinal anastomosis. The patient had a successful recovery and was discharged seven days later. The present article also reviews the classical presentation of a bowel perforation following abdominal liposuction. PMID:23997589

Jejunal perforation after abdominal liposuction, bilateral breast augmentation and facial fat grafting.

PubMed

Coronado-Malagón, Martin; Tauffer-Carrion, Luis Tomas

2012-01-01

A 54-year-old woman presented to the emergency department 24 h after undergoing abdominal liposuction, bilateral breast augmentation and facial fat grafting at a private plastic surgery clinic. She presented with the classic evolution of a bowel perforation secondary to abdominal liposuction. A computed tomography (CT) scan found free air in her abdominal cavity. Based on the CT scan and the persistent pain experienced by the patient, an abdominal laparatomy was urgently performed. A jejunum perforation was found and was treated with a resection of the affected segment followed by intestinal anastomosis. The patient had a successful recovery and was discharged seven days later. The present article also reviews the classical presentation of a bowel perforation following abdominal liposuction.

Risk of complications in coeliac patients depends on age at diagnosis and type of clinical presentation.

PubMed

Biagi, Federico; Schiepatti, Annalisa; Maiorano, Gregorio; Fraternale, Giacomo; Agazzi, Simona; Zingone, Fabiana; Ciacci, Carolina; Volta, Umberto; Caio, Giacomo; Tortora, Raffaella; Klersy, Catherine; Corazza, Gino R

2018-06-01

Coeliac disease is characterised by an increased mortality mostly due to its complications. To study the risk of developing complications according to clinical presentation and age at diagnosis, a combined retrospective-prospective longitudinal study was performed in three Italian centres. Incidence of complications and mortality rates were calculated using type and age at diagnosis of coeliac disease, sex, and centre of diagnosis as predictors. Patients referred after being found to suffer from coeliac disease elsewhere were excluded. Between 01/1999 and 06/2015, 2225 adult coeliac patients were directly diagnosed in our centres. 17 of them developed a complication and 29 died. In patients older than 60 years at diagnosis of coeliac disease, the risk of complication is 18 times higher than in patients diagnosed at 18-40 years and 9 times higher than in patients diagnosed at 40-60 years. Classical presentation increases the risk of complications by 7 times compared to non-classical presentation; in asymptomatic patients the risk of complication is virtually absent. The risk of developing complications in coeliac patients is linked to age at diagnosis of coeliac disease and type of clinical presentation. Follow-up methods of coeliac patients should be tailored according to these parameters. Copyright © 2017. Published by Elsevier Ltd.

Wilson's Disease: a challenge of diagnosis. The 5-year experience of a tertiary centre.

PubMed

Gheorghe, Liana; Popescu, Irinel; Iacob, Speranta; Gheorghe, Cristian; Vaidan, Roxana; Constantinescu, Alexandra; Iacob, Razvan; Becheanu, Gabriel; Angelescu, Corina; Diculescu, Mircea

2004-09-01

Because molecular diagnosis is considered impractical and no patognomonic features have been described, diagnosis of Wilson's disease (WD) using clinical and biochemical findings is still challenging. We analysed predictive factors for the diagnosis in 55 patients with WD diagnosed in our centre between 1st January 1999 and 1st April 2004. All patients presented predominant liver disease classified as: 1) asymptomatic, found incidentally, 2) chronic hepatitis or cirrhosis, or 3) fulminant hepatic failure. Diagnosis was considered as classic (two out of the three following criteria: 1) serum ceruloplasmin < 20 mg/dl, 2) the presence of Kayser-Fleischer rings and/or 3) hepatic copper > 250 mg/g dry weight liver tissue), and non-classic (clinical manifestations plus laboratory parameters suggesting impaired copper metabolism). The association between the predictive factors and non-classic diagnosis was assessed based on the level of statistical significance (p value<0.05) associated with the chi-squared test in contingency tables. Multivariate analysis was performed by logistic regression using SPSS 10. There were 31 males (56.3%) and 24 females (43.7%) with the mean age at diagnosis of 20.92 +/- 9.97 years (4-52 years); 51 patients (92.7%) were younger than 40 years. Asymptomatic WD was diagnosed in 14 patients (25.4%), chronic liver disease due to WD in 29 patients (52.8%) and fulminant hepatic failure in 12 patients (21.8%). The classic diagnosis was made in 32 patients (58.18%). In the univariate analysis the non-classic diagnosis was associated with: age>18 years (p=0.03), increased copper excretion (p<0.0001), Coombs-negative hemolysis (p=0.03), absence of neurological manifestations (p<0.0001). Multivariate analysis identified age over 18 years, increased urinary copper, and isolated hepatic involvement as independent predictors. In clinical practice, WD should be considered also in patients who do not fulfil classic criteria. Independent factors associated with non-classic diagnosis were age over 18 years, increased cupruresis and isolated liver disease.

MRI and clinical features of maple syrup urine disease: preliminary results in 10 cases

PubMed Central

Cheng, Ailan; Han, Lianshu; Feng, Yun; Li, Huimin; Yao, Rong; Wang, Dengbin; Jin, Biao

2017-01-01

PURPOSE We aimed to evaluate the magnetic resonance imaging (MRI) and clinical features of maple syrup urine disease (MSUD). METHODS This retrospective study consisted of 10 MSUD patients confirmed by genetic testing. All patients underwent brain MRI. Phenotype, genotype, and areas of brain injury on MRI were retrospectively reviewed. RESULTS Six patients (60%) had the classic form of MSUD with BCKDHB mutation, three patients (30%) had the intermittent form (two with BCKDHA mutations and one with DBT mutation), and one patient (10%) had the thiamine-responsive form with DBT mutation. On diffusion-weighted imaging, nine cases presented restricted diffusion in myelinated areas, and one intermittent case with DBT mutation was normal. The classic form of MSUD involved the basal ganglia in six cases; the cerebellum, mesencephalon, pons, and supratentorial area in five cases; and the thalamus in four cases, respectively. The intermittent form involved the cerebellum, pons, and supratentorial area in two cases. The thiamine-responsive form involved the basal ganglia and supratentorial area. CONCLUSION Our preliminary results indicate that patients with MSUD presented more commonly in classic form with BCKDHB mutation and displayed extensive brain injury on MRI. PMID:28830848

Clinical presentation and genetic analysis of a five generation Chinese family with isolated left ventricular noncompaction.

PubMed

Xia, Shudong; Wang, Hongxia; Zhang, Xiaoliang; Zhu, Jianhua; Tang, Xiaoli

2008-01-01

Isolated left ventricular noncompaction (ILVNC) is a rare congenital cardiomyopathy characterized by numerous excessive trabeculations and deep intertrabecular recesses. To date, the clinical features and genetic causes of ILVNC remain unclear. Here, we report the clinical presentation and genetic analysis of a five generation Chinese family with ILVNC. For this study, 21 living family members were recruited. Each individual underwent a detailed clinical examination for ILVNC. Peripheral blood samples were collected for direct gene sequencing to determine any mutations in the known disease-causing genes of ILVNC, which include the genes TAZ, DTNA, LDB3, LMNA and FKBP12. Classic echocardiographic presentation of ILVNC was identified in the proband who had his first onset of heart failure at age 52. His 28-year-old son and 26-year-old daughter showed similar heart anomalies as their father. Although they had no symptoms to date, depressed ventricular systolic function was noted in both of them. Pedigree analysis suggested an autosomal domain mode of inheritance. DNA sequencing found no mutation in the known disease-causing genes of ILVNC. Interestingly, two other members of the family, the proband's wife (also his first cousin) and her sister had classic echocardiographic presentation of hypertrophic cardiomyopathy (HCM). A single Chinese family with ILVNC associated with HCM is reported; no mutations in TAZ, DTNA, LDB3, LMNA and FKBP12 was found.

[Dandy-Walker complex: a clinicopathologic study of 9 cases].

PubMed

Zhang, Xiao-bo; Gu, Yi-qun; Sun, Xiao-fei; Wang, Ying-nan; Wang, Ai-chun

2013-12-01

To investigate the etiology, pathogenesis, clinicopathologic characteristics, clinical prognosis and treatment of Dandy-Walker syndrome. Nine cases of Dandy-Walker syndrome were included in the study. The autopsy findings and clinical history were evaluated along with review of the literature. The causes, pathogenetic mechanism, pathologic features and prognosis of Dandy-Walker syndrome were analyzed. Among 9 Dandy-Walker syndrome cases, six patients presented with variants of Dandy-Walker complex and 3 cases had classic Dandy-Walker malformation. In addition, 4 patients presented with combined lateral ventricle expansion and multiple malformations were seen in 7 cases. Combined umbilical cord abnormality was noted in 4 patients with variant of Dandy-Walker complex and combined placental abnormality was seen in one classic Dandy-Walker syndrome. Dandy-Walker syndrome is a rare disease. In addition to complex pathogenesis with possible genetic and environmental antigenic etiologies, placental and umbilical cord abnormality may be also related to its development.

REVIEW OF CELIAC DISEASE PRESENTATION IN A PEDIATRIC TERTIARY CENTRE.

PubMed

Oliveira, Gracinda Nogueira; Mohan, Rajiv; Fagbemi, Andrew

2018-01-01

Celiac disease is an immune-mediated disorder with a multiform presentation and therefore a challenging diagnosis. Our purpose is to identify the epidemiological, clinical, laboratory and histologic characteristics of children with celiac disease at diagnosis and on follow-up. Children with previously established or newly diagnosed celiac disease, admitted in a tertiary centre in a two-year period (2014-2016) were recruited. Data was collected retrospectively from electronic medical records and clinical notes, and subsequently analysed with SPSS version 20.0. A total of 159 patients, out of 312, were included. Age ranged from 1 to 17 years (mean ± SD: 8.5±4.5 years, 69% girls). Disease presentation was classical in 60%, non-classical in 25%, subclinical in 10% and 5% classified as potential celiac disease. Non-classical and subclinical profiles had a higher mean age at presentation but not statistically significant (P-value 0.24). The most frequent gastrointestinal features at presentation were abdominal pain (58%), diarrhea (43%) and bloating (27%). A positive family history for celiac disease was present in 24% (n=35). We found anaemia in 23%, low ferritin in 63% and a moderate to severe deficiency of 25-hydroxyvitamin D in 62%. celiac disease -specific serologic testing and esophagogastroduodenoscopy were performed in 99%. Histology revealed modified Marsh 2 or 3 enteropathy in 94%, the remaining had normal histology but positive human leukocyte antigen typing. Clinical improvement at 12 months of gluten-free diet was complete in 51% and partial in 49%. IgA tTG normalized after 12-30 months of gluten-free diet in 45%. On growth assessment at diagnosis and after 12-28 months of gluten-free diet, 100% had height increase (mean ±SD: 7.11±4.43 cm) and 96% weight gain (mean ±SD: 5.60±4.91 kg). Our findings outline the diverse clinical presentations of pediatric celiac disease that should be considered irrespective of age. Increased clinician's awareness will enable an early diagnosis and treatment, with subsequent symptom and nutritional status improvement.

New and old roles of the peripheral and brain renin-angiotensin-aldosterone system (RAAS): Focus on cardiovascular and neurological diseases.

PubMed

Mascolo, A; Sessa, M; Scavone, C; De Angelis, A; Vitale, C; Berrino, L; Rossi, F; Rosano, G; Capuano, A

2017-01-15

It is commonly accepted that the renin-angiotensin-aldosterone system (RAAS) is a cardiovascular circulating hormonal system that plays also an important role in the modulation of several patterns in the brain. The pathway of the RAAS can be divided into two classes: the traditional pathway of RAAS, also named classic RAAS, and the non-classic RAAS. Both pathways play a role in both cardiovascular and neurological diseases through a peripheral or central control. In this regard, renewed interest is growing in the last years for the consideration that the brain RAAS could represent a new important therapeutic target to regulate not only the blood pressure via central nervous control, but also neurological diseases. However, the development of compounds able to cross the blood-brain barrier and to act on the brain RAAS is challenging, especially if the metabolic stability and the half-life are taken into consideration. To date, two drug classes (aminopeptidase type A inhibitors and angiotensin IV analogues) acting on the brain RAAS are in development in pre-clinical or clinical stages. In this article, we will present an overview of the biological functions played by peripheral and brain classic and non-classic pathways of the RAAS in several clinical conditions, focusing on the brain RAAS and on the new pharmacological targets of the RAAS. Copyright © 2016 Elsevier Ireland Ltd. All rights reserved.

Euthanasia: an overview and the jewish perspective.

PubMed

Gesundheit, Benjamin; Steinberg, Avraham; Glick, Shimon; Or, Reuven; Jotkovitz, Alan

2006-10-01

End-of-life care poses fundamental ethical problems to clinicians. Defining euthanasia is a difficult and complex task, which causes confusion in its practical clinical application. Over the course of history, abuse of the term has led to medical atrocities. Familiarity with the relevant bioethical issues and the development of practical guidelines might improve clinical performance. To define philosophical concepts, to present historical events, to discuss the relevant attitudes in modern bioethics and law that may be helpful in elaborating practical guidelines for clinicians regarding euthanasia and end-of-life care. Concepts found in the classic sources of Jewish tradition might shed additional light on the issue and help clinicians in their decision-making process. An historical overview defines the concepts of active versus passive euthanasia, physician-assisted suicide and related terms. Positions found in classical Jewish literature are presented and analyzed with their later interpretations. The relevance and application in modern clinical medicine of both the general and Jewish approaches are discussed. The overview of current bioethical concepts demonstrates the variety of approaches in western culture and legal systems. Philosophically and conceptually, there is a crucial distinction between active and passive euthanasia. The legitimacy of active euthanasia has been the subject of major controversy in recent times in various countries and religious traditions. The historical overview and the literature review demonstrate the need to provide clearer definitions of the concepts relating to euthanasia, for in the past the term has led to major confusion and uncontrolled abuse. Bioethical topics should, therefore, be included in medical training and continuing education. There are major debates and controversies regarding the current clinical and legal approaches. We trust that classical Jewish sources might contribute to the establishment of clinical definitions, meaningful approaches and practical guidelines for clinicians.

Understanding Bartter syndrome and Gitelman syndrome.

PubMed

Fremont, Oliver T; Chan, James C M

2012-02-01

We aim to review the clinical features of two renal tubular disorders characterized by sodium and potassium wasting: Bartter syndrome and Gitelman syndrome. Selected key references concerning these syndromes were analyzed, together with a PubMed search of the literature from 2000 to 2011. The clinical features common to both conditions and those which are distinct to each syndrome were presented. The new findings on the genetics of the five types of Bartter syndrome and the discrete mutations in Gitelman syndrome were reviewed, together with the diagnostic workup and treatment for each condition. Patients with Bartter syndrome types 1, 2 and 4 present at a younger age than classic Bartter syndrome type 3. They present with symptoms, often quite severe in the neonatal period. Patients with classic Bartter syndrome type 3 present later in life and may be sporadically asymptomatic or mildly symptomatic. The severe, steady-state hypokalemia in Bartter syndrome and Gitelman syndrome may abruptly become life-threatening under certain aggravating conditions. Clinicians need to be cognizant of such renal tubular disorders, and promptly treat at-risk patients.

Performance of the commercially available SERION ELISA classic Echinococcus IgG test for the detection of cystic echinococcosis in clinical practice.

PubMed

Sarink, M J; Koelewijn, R; Slingerland, B C G C; Tielens, A G M; van Genderen, P J J; van Hellemond, J J

2018-06-28

Diagnosis of cystic echinococcosis (CE) is at present mainly based on imaging techniques. Serology has a complementary role, partly due to the small number of standardized and commercially available assays. Therefore we examined the clinical performance of the SERION ELISA classic Echinococcus IgG test. Using 10 U/ml as a cut-off point, and serum samples from 50 CE patients and 105 healthy controls, the sensitivity and specificity were 98.0% and 96.2%, respectively. If patients with other infectious diseases were used as negative controls, the specificity decreased to 76.9%, which causes poor positive predictive values. However, if results between 10 and 15 U/ml are classified as indecisive, the specificity of positive results (≥15 U/ml) increased to 92.5% without greatly affecting the sensitivity (92.0%). Using this approach in combination with imaging studies, the SERION ELISA classic Echinococcosis IgG test can be a useful aid in the diagnosis of CE.

Psychopathology of catatonic speech disorders and the dilemma of catatonia: a selective review.

PubMed

Ungvari, G S; White, E; Pang, A H

1995-12-01

Over the past decade there has been an upsurge of interest in the prevalence, nosological position, treatment response and pathophysiology of catatonia. However, the psychopathology of catatonia has received only scant attention. Once the hallmark of catatonia, speech disorders--particularly logorrhoea, verbigeration and echolalia--seem to have been neglected in modern literature. The aims of the present paper are to outline the conceptual history of catatonic speech disorders and to follow their development in contemporary clinical research. The English-language psychiatric literature for the last 60 years on logorrhoea, verbigeration and echolalia was searched through Medline and cross-referencing. Kahlbaum, Wernicke, Jaspers, Kraepelin, Bleuler, Kleist and Leonhard's oft cited classical texts supplemented the search. In contrast to classical psychopathological sources, very few recent papers were found on catatonic speech disorders. Current clinical research failed to incorporate the observations of traditional descriptive psychopathology. Modern catatonia research operates with simplified versions of psychopathological terms devised and refined by generations of classical writers.

A case of hairy cell leukemia variant.

PubMed

Găman, Amelia Maria; Dobrea, Camelia Marioara; Găman, Mihnea Alexandru

2015-01-01

Hairy cell leukemia variant (HCLv) is a rare B-cell chronic lymphoproliferative disorder with features of the classic HCL but presenting some particularities, a poor response to conventional therapy of classic HCL and a more aggressive course of disease with shorter survival than classic HCL. We present a case of a 52-year-old man hospitalized in July 2012 in the Clinic of Hematology of Craiova, Romania, having splenomegaly, leukocytosis with lymphocytosis, anemia and thrombocytopenia, without monocytopenia, which exposed, in the peripheral blood and bone marrow cells, intermediate morphology between hairy cells and prolymphocytes and immunophenotype of mature B-cell phenotype CD19, CD20, CD22, CD11c, CD103, low positive for CD25 and negative for CD3, diagnosed with HCL variant, with no response to conventional chemotherapy and interferon-alpha, an aggressive course of disease and a survival of less than a year from diagnosis.

Objective Dysphonia Quantification in Vocal Fold Paralysis: Comparing Nonlinear with Classical Measures

PubMed Central

Little, Max A.; Costello, Declan A. E.; Harries, Meredydd L.

2010-01-01

Summary Clinical acoustic voice-recording analysis is usually performed using classical perturbation measures, including jitter, shimmer, and noise-to-harmonic ratios (NHRs). However, restrictive mathematical limitations of these measures prevent analysis for severely dysphonic voices. Previous studies of alternative nonlinear random measures addressed wide varieties of vocal pathologies. Here, we analyze a single vocal pathology cohort, testing the performance of these alternative measures alongside classical measures. We present voice analysis pre- and postoperatively in 17 patients with unilateral vocal fold paralysis (UVFP). The patients underwent standard medialization thyroplasty surgery, and the voices were analyzed using jitter, shimmer, NHR, nonlinear recurrence period density entropy (RPDE), detrended fluctuation analysis (DFA), and correlation dimension. In addition, we similarly analyzed 11 healthy controls. Systematizing the preanalysis editing of the recordings, we found that the novel measures were more stable and, hence, reliable than the classical measures on healthy controls. RPDE and jitter are sensitive to improvements pre- to postoperation. Shimmer, NHR, and DFA showed no significant change (P > 0.05). All measures detect statistically significant and clinically important differences between controls and patients, both treated and untreated (P < 0.001, area under curve [AUC] > 0.7). Pre- to postoperation grade, roughness, breathiness, asthenia, and strain (GRBAS) ratings show statistically significant and clinically important improvement in overall dysphonia grade (G) (AUC = 0.946, P < 0.001). Recalculating AUCs from other study data, we compare these results in terms of clinical importance. We conclude that, when preanalysis editing is systematized, nonlinear random measures may be useful for monitoring UVFP-treatment effectiveness, and there may be applications to other forms of dysphonia. PMID:19900790

Hallerman-Streiff-like syndrome presenting with laterality and cardiac defects.

PubMed

Morice-Picard, Fanny; Marlin, Sandrine; Rooryck, Caroline; Fayon, Mickael; Thambo, Jeao-Benoît; Demarquez, Jean-Louis; Fauroux, Brigitte; Denoyelle, Francoise; Lacombe, Didier

2009-04-01

We report two patients considered to have an atypical presentation of Hallerman-Streiff syndrome (HSS) associated with laterality and cardiac defects. Clinical features include typical facial gestalt, atrophy of the skin, and hypotrichosis. Ophthalmologic abnormalities, normally present in HSS, are only found in one of the two patients. Both of them have respiratory problems secondary to the classical narrow upper airway described in this syndrome. Both these patients have laterality defects and one has additional structural cardiac malformations. Cardiac defects have occasionally been reported in the HSS literature, but are not considered as a classical feature of the syndrome. Situs inversus has never been reported in this syndrome. Almost all HSS cases have been sporadic and their origin and inheritance pattern remain unknown.

RAACFDb: Rheumatoid arthritis ayurvedic classical formulations database.

PubMed

Mohamed Thoufic Ali, A M; Agrawal, Aakash; Sajitha Lulu, S; Mohana Priya, A; Vino, S

2017-02-02

In the past years, the treatment of rheumatoid arthritis (RA) has undergone remarkable changes in all therapeutic modes. The present newfangled care in clinical research is to determine and to pick a new track for better treatment options for RA. Recent ethnopharmacological investigations revealed that traditional herbal remedies are the most preferred modality of complementary and alternative medicine (CAM). However, several ayurvedic modes of treatments and formulations for RA are not much studied and documented from Indian traditional system of medicine. Therefore, this directed us to develop an integrated database, RAACFDb (acronym: Rheumatoid Arthritis Ayurvedic Classical Formulations Database) by consolidating data from the repository of Vedic Samhita - The Ayurveda to retrieve the available formulations information easily. Literature data was gathered using several search engines and from ayurvedic practitioners for loading information in the database. In order to represent the collected information about classical ayurvedic formulations, an integrated database is constructed and implemented on a MySQL and PHP back-end. The database is supported by describing all the ayurvedic classical formulations for the treatment rheumatoid arthritis. It includes composition, usage, plant parts used, active ingredients present in the composition and their structures. The prime objective is to locate ayurvedic formulations proven to be quite successful and highly effective among the patients with reduced side effects. The database (freely available at www.beta.vit.ac.in/raacfdb/index.html) hopefully enables easy access for clinical researchers and students to discover novel leads with reduced side effects. Copyright © 2016 Elsevier Ireland Ltd. All rights reserved.

Epidemiology and genetic diversity of classic human astrovirus among hospitalized children with acute gastroenteritis in Uruguay.

PubMed

Lopez, Fernando; Lizasoain, Andrés; Victoria, Matías; Papalardo, Cecilia; Castro, Sebastian; Arreseigor, Edit; López, Patricia; Colina, Rodney

2017-10-01

Classic Human Astrovirus (Classic HAstV) are one of the most important causes of pediatric acute gastroenteritis (AGE), after rotaviruses and arguably caliciviruses. The aim of this study was to determine the molecular epidemiology of Classic HAstV from 175 clinical samples, being 153 stools and 22 vomits, collected from pediatric hospitalized patients with AGE in Salto city, Uruguay, from January 2011 to December 2012. Classic HAstV were detected and genotyped by using a qualitative Retro Transcription-Polimerase Chain Reaction (RT-PCR) directed to the Open Reading Frame-2 (ORF2) region C. Amplicons were sequenced and phylogenetic analyses were carried out in order to determine genotypes and lineages. Classic HAstV were detected in 18 out of 175 analyzed samples (10.3%) and 14 of them (78.0%) were successfully sequenced being 6 (42.8%) classified as HAstV-1 (1a lineage), 4 (28.6%) as HAstV-2 (2c lineage), and 4 (28.6%) as HAstV-3 (3c lineage). A higher detection of Classic HAstV infections was observed in autumn for both years of surveillance, and the majority of the positive cases were observed in 2011. The group of children between 2 and 5 years old presented the higher percentage of infections. To our knowledge, the present study represents the first report of astrovirus from acute gastroenteritis cases in Uruguay, evidencing its role as a relevant etiologic agent in severe cases of this disease. © 2017 Wiley Periodicals, Inc.

The effects of diseases, drugs, and chemicals on the creativity and productivity of famous sculptors, classic painters, classic music composers, and authors.

PubMed

Wolf, Paul L

2005-11-01

Many myths, theories, and speculations exist as to the exact etiology of the diseases, drugs, and chemicals that affected the creativity and productivity of famous sculptors, classic painters, classic music composers, and authors. To emphasize the importance of a modern clinical chemistry laboratory and hematology coagulation laboratory in interpreting the basis for the creativity and productivity of various artists. This investigation analyzed the lives of famous artists, including classical sculptor Benvenuto Cellini; classical sculptor and painter Michelangelo Buonarroti; classic painters Ivar Arosenius, Edvard Munch, and Vincent Van Gogh; classic music composer Louis Hector Berlioz; and English essayist Thomas De Quincey. The analysis includes their illnesses, their famous artistic works, and the modern clinical chemistry, toxicology, and hematology coagulation tests that would have been important in the diagnosis and treatment of their diseases. The associations between illness and art may be close and many because of both the actual physical limitations of the artists and their mental adaptation to disease. Although they were ill, many continued to be productive. If modern clinical chemistry, toxicology, and hematology coagulation laboratories had existed during the lifetimes of these various well-known individuals, clinical laboratories might have unraveled the mysteries of their afflictions. The illnesses these people endured probably could have been ascertained and perhaps treated. Diseases, drugs, and chemicals may have influenced their creativity and productivity.

Therapeutic Applications of Classic Hallucinogens.

PubMed

Bogenschutz, Michael P; Ross, Stephen

2018-01-01

This chapter reviews what is known about the therapeutic uses of the serotonergic or classic hallucinogens, i.e., psychoactive drugs such as LSD and psilocybin that exert their effects primarily through agonist activity at serotonin 2A (5HT2A) receptors. Following a review of the history of human use and scientific study of these drugs, the data from clinical research are summarized, including extensive work on the use of classic hallucinogens in the treatment of alcoholism and other addictions, studies of the use of LSD and psilocybin to relieve distress concerning death, particularly in patients with advanced or terminal cancer, and more limited data concerning the use of classic hallucinogens to treat mood and anxiety disorders. A survey of possible mechanisms of clinically relevant effects is provided. The well-established safety of classic hallucinogens is reviewed. To provide a clinical perspective, case summaries are provided of two individuals who received treatment in recent controlled trials of psilocybin: one being treated for alcoholism, the other suffering from anxiety and depression related to fear of death due to a cancer diagnosis. Although promising early phase research conducted from the 1950s through the early 1970s was discontinued before firm conclusions could be reached concerning the efficacy of any of the classic hallucinogens for any clinical condition, the research that was conducted in that era strongly suggests that classic hallucinogens have clinically relevant effects, particularly in the case of LSD treatment of alcoholism. In the past decade, clinical trials have resumed investigating the effects of classic hallucinogens in the treatment of existential distress in the face of cancer, and in the treatment of addictions including alcoholism and nicotine addiction. The studies that have been completed to date are not sufficient to establish efficacy, but the outcomes have been very encouraging, and larger trials, up to and including phase 3, are now underway or being planned. Although research has elucidated many of the acute neurobiological and psychological effects of classic hallucinogens on humans, animals, and in vitro systems, the mechanisms of clinically relevant persisting effects remain poorly understood.

Atypical Cutaneous Manifestations in Syphilis.

PubMed

Ivars Lleó, M; Clavo Escribano, P; Menéndez Prieto, B

2016-05-01

Although the diversity of the clinical manifestations of syphilis is well-known, atypical presentations can also occur. Such atypical presentations are associated with a high risk of transmission as a result of diagnostic confusion and treatment delays owing to the disease's ability to mimic other common skin diseases, deviate from classic clinical presentations, and adopt unique forms. Cases of atypical syphilis have been described most frequently in patients with concomitant human immunodeficiency virus (HIV) infection. Because the incidence of syphilis has been growing over recent years -particularly in patients with HIV co-infection- dermatologists need to be familiar with the less well-known clinical presentations of this venereal disease. Copyright © 2015 AEDV. Published by Elsevier España, S.L.U. All rights reserved.

Evaluation of anterior knee pain in a PS total knee arthroplasty: the role of patella-friendly femoral component and patellar size.

PubMed

Atzori, F; Sabatini, L; Deledda, D; Schirò, M; Lo Baido, R; Baido, R L; Massè, A

2015-04-01

Total knee arthroplasty gives excellent objective results. Nevertheless, the subjective findings do not match the normal knee perception: Often, it depends on patellar pain onset. In this study, we analyzed clinical and radiological items that can affect resurfaced patellar tracking, and role of a patella-friendly femoral component and patellar size on patellar pain onset. Thirty consecutive patients were implanted using the same-cemented posterior-stabilized TKA associated with patella resurfacing. Fifteen patients were implanted using a classical femoral component, while another 15 patients were implanted using a patella-friendly femoral component. The statistical analysis was set to detect a significant difference (p < 0.05) in clinical and radiological outcomes related to several surgical parameters. Clinical and functional outcomes were recorded using the Knee Society Scoring System (KSS) and patellar pain with the Burnett questionnaire. Mean follow-up was 25 months. KSS results were excellent in both groups. Group 2 (patella-friendly femoral model) reached a higher percentage of 100 points in the clinical and functional KSS, but there was no statistical difference. Also, no statistical differences for Burnett Questionnaire results were recorded. We had one case of patellar clunk syndrome in the standard femoral component group and one poor result in the second group. Postoperative radiographic measurements evidenced no statistical differences in both groups. In group 1 (classical femoral component), better significant result (p < 0.05) war recorded at clinical evaluation according to the Knee Society Scoring System (KSS) in case of wider patellar component resurfaced. The present study reveals no statistically significant difference in the incidence of anterior knee pain between classical and "patella-friendly" femoral components. With the particular type of implant design utilized in this study, when the classical femoral component is used, bigger patellar implant sizes (38 and 41 mm) showed superior clinical outcome.

Sebaceous hyperplasia of the vulva: a series of cases reporting no association with the Muir-Torre syndrome.

PubMed

Roma, Andres A; Barry, Jessica; Pai, Rish K; Billings, Steven D

2014-07-01

Sebaceous gland hyperplasia is a common skin condition, very rarely reported in the female genital region. We present 13 cases from 12 patients, the first case series of sebaceous gland hyperplasia of the vulva. Differences in age at presentation and clinical presentation compared with classic sebaceous gland hyperplasia from the head and neck region were noted. Also, it was rarely included in the clinical differential diagnosis. Immunohistochemical studies to determine any possible association with the Muir-Torre syndrome were performed and mismatch repair protein loss was not identified.

Hepatocellular carcinoma with both fibrolamellar and classical components: an unusual morphological pattern.

PubMed

Castro-Villabón, Diana; Barrera-Herrera, Luis E; Rodríguez-Urrego, Paula A; Hudacko, Rachel; Vera, Alonso; Álvarez, Johanna; Andrade, Rafael; López, Rocío

2015-01-01

Fibrolamellar carcinoma (FLC) is an uncommon form of primary liver malignancy with unique clinical, histological, and biological characteristics. It is usually seen in young adults without underlying liver disease. Histologically, it shows large cells with abundant eosinophilic cytoplasm, large vesicular nuclei, prominent nucleoli, and lamellar type fibrosis. In contrast, classical hepatocellular carcinoma (HCC) is typically present in elderly male patients with cirrhosis. It is the most common histological subtype, and it is characterized by its resemblance to the normal liver, both in its growth pattern and its cytology. The unusual case of a liver carcinoma that presented with histological features of both FLC and classical HCC is herein reported. This was the case of a 37-year-old female complaining of diffuse abdominal discomfort and epigastric pain for two months. She was referred to us for further management after she was diagnosed with HCC in a noncirrhotic liver. She underwent a left-sided hepatectomy. A yellow nodular mass with well-defined borders and a necrotic center was present in the resection specimen. The morphological features and immunohistochemical studies were consistent with a diagnosis of FLC mixed with classical HCC. The patient was followed up for five months, and no signs of recurrence were evident.

FLUCTUATING JAUNDICE IN THE ADENOCARCINOMA OF THE AMPULLA OF VATER: a classic sign or an exception?

PubMed

Alves, José Roberto; Amico, Enio Campos; Souza, Dyego Leandro Bezerra de; Oliveira, Patrick Vanttinny Vieira de; Maranhão, Ícaro Godeiro de Oliveira

2015-01-01

Some authors consider the fluctuating jaundice as a classic sign of the adenocarcinoma of the ampulla of Vater. Assessing the frequency of fluctuating jaundice in their forms of its depiction in the patients with adenocarcinoma of the ampulla of Vater. Observational and retrospective study, conducted through analyses of medical records from patients subjected to pancreatic cephalic resections between February 2008 and July 2013. The pathological examination of the surgical specimen was positive to adenocarcinoma of the ampulla of Vater. Concepts and differences on clinical and laboratory fluctuating jaundice were standardized. It was subdivided into type A and type B laboratory fluctuating jaundice. Twenty patients were selected. One of them always remained anicteric, 11 patients developed progressive jaundice, 2 of them developed clinical and laboratory fluctuating jaundice, 5 presented only laboratory fluctuating jaundice and one did not present significant variations on total serum bilirubin levels. Among the seven patients with fluctuating jaundice, two were classified as type A, one as type B and four were not classified due to lack information. Finally, progressive jaundice was the prevailing presentation form in these patients (11 cases). This series of cases suggested that clinical fluctuating jaundice is a uncommon signal in adenocarcinoma of the ampulla of Vater.

Wound Healing Finally Enters the Age of Molecular Diagnostic Medicine

PubMed Central

Tatum, Owatha L.; Dowd, Scot E.

2012-01-01

Background Many wounds are difficult to heal because of the large, complex community of microbes present within the wound. The Problem Classical laboratory culture methods do not provide an accurate picture of the microbial interactions or representation of microorganisms within a wound. There is an inherent bias in diagnosis based upon classical culture stemming from the ability of certain organisms to thrive in culture while others are underrepresented or fail to be identified in culture altogether. Chronic wounds also contain polymicrobial infections existing as a cooperative community that is resistant to antibiotic therapy. Basic/Clinical Science Advances New methods in molecular diagnostic medicine allow the identification of nearly all organisms present in a wound irrespective of the ability of these organisms to be grown in culture. Advances in DNA analyses allow absolute identification of microorganisms from very small clinical specimens. These new methods also provide a quantitative representation of all microorganisms contributing to these polymicrobial infections. Clinical Care Relevance Technological advances in laboratory diagnostics can significantly shorten the time required to heal chronic wounds. Identification of the genetic signatures of organisms present within a wound allows clinicians to identify and treat the primary organisms responsible for nonhealing wounds. Conclusion Advanced genetic technologies targeting the specific needs of wound care patients are now accessible to all wound care clinicians. PMID:24527290

Previously undiagnosed hereditary spherocytosis in a patient with jaundice and pyelonephritis: a case report.

PubMed

Tateno, Yuki; Suzuki, Ryoji; Kitamura, Yukihiro

2016-12-01

Hereditary spherocytosis is autosomal dominant inherited extravascular hemolytic disorder and is the commonest cause of inherited hemolysis in northern Europe and the United States. The classical clinical features of hereditary spherocytosis are anemia, jaundice, and splenomegaly. However, all of these classical features are not always revealed in the case of mild hemolysis or when hemolysis is well compensated. Patients with hereditary spherocytosis may remain undiagnosed for years if their hemolysis is mild. A 42-year-old Asian woman presented to our clinic with a sudden onset of high fever with shaking chills and jaundice, suggesting septicemia; however, following detailed investigation, the patient was diagnosed with pyelonephritis and accelerated hemolysis of hereditary spherocytosis due to infection. It is important to note that transient anemia or jaundice can sometimes be the only initial presenting symptoms in cases of undiagnosed latent hereditary spherocytosis. This case also highlights the fact that physicians should consider concomitant hemolytic disease in patients in whom jaundice and infections that rarely cause jaundice coexist.

Guillain-Barré Syndrome, variants & forms fruste: Reclassification with new criteria.

PubMed

Hiew, Fu Liong; Ramlan, Rahmansah; Viswanathan, Shanthi; Puvanarajah, Santhi

2017-07-01

This study aimed to evaluate the clinical and electrophysiological characteristics of various distinctive classical and localised Guillain-Barré syndrome (GBS) subtypes. Clinical characteristics and electrophysiological data of sixty-one consecutive patients admitted between 2012 and 2015 were systematically analysed and reclassified according to the new GBS clinical classification. Neurophysiology was evaluated with Hadden et al.'s vs recently proposed Rajabally et al.'s criteria. Functional severity and clinical outcome of various GBS subtypes were ascertained. All patients initially identified as GBS or related disorders can be sub-classified into having classical GBS (41, 67%), classic Miller-Fisher Syndrome (MFS) (6, 10%), Pharyngeal-cervical-brachial (PCB) (3, 5%), paraparetic GBS (4, 7%), bifacial weakness with paresthesia (3, 5%), acute ophthalmoparesis (AO) (1, 2%) and overlap syndrome (3, 5%): one (2%) with GBS/Bickerstaff brainstem encephalitis overlap and 2 (3%) with GBS/MFS overlap. Greater proportion of axonal classical GBS (67% vs 55%, p=0.372) seen with Rajabally et al.'s criteria and a predominantly axonal form of paraparetic variant (75%) independent of electrodiagnostic criteria were more representative of Asian GBS cohort. Classical GBS patients had lowest admission and discharge Medical Research Council Sum Score (MRCSS), greater functional disability and longest length of in-patient stay. Twenty (20/21, 95%) patients who needed mechanical ventilation had classical GBS. Patients required repeated dose of intravenous immunoglobulin (5/6, 3%) or plasma exchange (4/4, 100%) more frequently had axonal form of classical GBS. Phenotype recognition based on new GBS clinical classification, supported by electrodiagnostic study permits more precise clinical subtypes determination and outcome prognostication. Copyright © 2017 Elsevier B.V. All rights reserved.

JAG1 mutations are found in approximately one third of patients presenting with only one or two clinical features of Alagille syndrome.

PubMed

Guegan, K; Stals, K; Day, M; Turnpenny, P; Ellard, S

2012-07-01

Alagille syndrome is a multisystem disorder characterized by highly variable expressivity, most frequently caused by heterozygous JAG1 gene mutations. Classic diagnostic criteria combine the presence of bile duct paucity on liver biopsy with three of five systems affected; liver, heart, skeleton, eye and dysmorphic facies. The aim of this study was to determine the prevalence and distribution of JAG1 mutations in patients referred for routine clinical diagnostic testing. Clinical data were available for 241 patients from 135 families. The index cases were grouped according to the number of systems affected (heart, liver, skeletal, eye and facies) and the mutation frequency calculated for each group. JAG1 mutations were identified in 59/135 (44%) probands. The highest mutation detection rates were observed in patients with the most frequent presenting features of Alagille syndrome; ranging from 20% (one system) to 86% (five systems). The overall mutation pick-up rate in a clinical diagnostic setting was lower than in previous research studies. Identification of a JAG1 gene mutation is particularly useful for those patients with atypical or mild Alagille syndrome who do not meet classic diagnostic criteria as it provides a definite molecular diagnosis and allows accurate genetic counselling for the family. © 2011 John Wiley & Sons A/S.

Primary intraosseous squamous cell carcinoma arising in an odontogenic keratocyst previously treated with marsupialization: case report and immunohistochemical study.

PubMed

Martínez-Martínez, Marisol; Mosqueda-Taylor, Adalberto; Delgado-Azañero, Wilson; Rumayor-Piña, Alicia; de Almeida, Oslei Paes

2016-04-01

A rare case of primary intraosseous squamous cell carcinoma arising in an odontogenic keratocyst (OKC) is presented here, with the clinical and histologic features of the first biopsy showing characteristics of OKC and the second biopsy disclosing a squamous cell carcinoma. Immunoprofile of this case was compared with five cases of classical OKC by using cytokeratins CK5, CK14, and CK19, CD138, p63, Ki-67, p53, and bcl-2. Classic OKCs showed expected positivity, mainly in the basal and/or suprabasal layers with most antibodies, except for p53, which was negative, whereas the present case showed irregular positivity in all layers, indicating that this can be useful for differential diagnosis and suggesting a possible role in malignant transformation into primary intraosseous squamous cell carcinoma. In conclusion, immunohistochemical differences between the first biopsy of the present case and classic OKC suggest that immunohistochemistry can be helpful in cases with areas of subtle initial malignant transformation. Copyright © 2016 Elsevier Inc. All rights reserved.

Novel and classical human astroviruses in stool and cerebrospinal fluid: comprehensive screening in a tertiary care hospital, Switzerland.

PubMed

Cordey, Samuel; Vu, Diem-Lan; Zanella, Marie-Celine; Turin, Lara; Mamin, Aline; Kaiser, Laurent

2017-09-20

Classical human astroviruses (HAstV) are the third most common cause of non-bacterial acute gastroenteritis. Due to the lack of routine molecular assays, novel HAstV are underdiagnosed and the magnitude of their contribution to clinical disease remains unknown. To better understand their prevalence and the susceptible patient profile, we conducted a comprehensive screening of novel and classical HAstV in stool and cerebrospinal fluid (CSF) samples collected for clinical care in a tertiary care hospital using a specially designed rRT-PCR panel for the detection of novel (MLB1-3 and VA1-4) and classical HAstV. Of the 654 stool samples, 20 were positive for HAstV, and the novel (n=10; 3 MLB1, 4 MLB2; 3 VA2) and classical (n=10) serotypes were equally prevalent. None of the 105 CSF samples were positive. Investigating the patient profile, we found a higher prevalence (P=0.0002) of both novel and classical HAstV in pediatric stool samples (3.4% and 3%, respectively) compared with adult stool samples (0.5% and 0.7%, respectively). Furthermore, all novel and classical HAstV-positive pediatric subjects were ≤four years old, demonstrating similar susceptible populations. Forty-five percent of positive patients were immunocompromised (novel: 40%, classical: 50%). A comparison of novel and classical HAstV-positive cases showed a lower viral load for novel HAstV (P=0.0007) with significantly more upper respiratory symptoms (70% of subjects; P=0.02); this observation may suggest a unique pathogenic pathway. This study confirms the clinical and epidemiological relevance of novel HAstV and identifies a target population in which routine screening may yield clinically valuable information.

Clinical practice guidelines for the diagnosis and management of melanoma: melanomas that lack classical clinical features.

PubMed

Mar, Victoria J; Chamberlain, Alex J; Kelly, John W; Murray, William K; Thompson, John F

2017-10-16

A Cancer Council Australia multidisciplinary working group is currently revising and updating the 2008 evidence-based clinical practice guidelines for the management of cutaneous melanoma. While there have been many recent improvements in treatment options for metastatic melanoma, early diagnosis remains critical to reducing mortality from the disease. Improved awareness of the atypical presentations of this common malignancy is required to achieve this. A chapter of the new guidelines was therefore developed to aid recognition of atypical melanomas. Main recommendations: Because thick, life-threatening melanomas may lack the more classical ABCD (asymmetry, border irregularity, colour variegation, diameter > 6 mm) features of melanoma, a thorough history of the lesion with regard to change in morphology and growth over time is essential. Any lesion that is changing in morphology or growing over a period of more than one month should be excised or referred for prompt expert opinion. Changes in management as a result of the guidelines: These guidelines provide greater emphasis on improved recognition of the atypical presentations of melanoma, in particular nodular, desmoplastic and acral lentiginous subtypes, with particular awareness of hypomelanotic and amelanotic lesions.

Retrospective study of intravascular large B-cell lymphoma cases diagnosed in Quebec: A retrospective study of 29 case reports.

PubMed

Brunet, Vanessa; Marouan, Sofia; Routy, Jean-Pierre; Hashem, Mohamed Amin; Bernier, Vincent; Simard, Raynald; Petrella, Tony; Lamarre, Louis; Théorêt, Gilles; Carrier, Christian; Knecht, Hans; Fleury, Isabelle; Pavic, Michel

2017-02-01

Intravascular large B-cell lymphoma (IVL) is an extremely rare malignancy, mainly studied through European and Asian series. Due to the low incidence of this condition, our understanding of the clinical presentation as well as the management of IVL relies on a limited number of patients.We report the largest North American study to date on IVL with 29 cases from Quebec hospital diagnosed between 1990 and 2016. The aim of our study is to describe the clinical presentations, diagnostic and staging procedures, therapeutic management and clinical outcomes of IVL patients in our population and compare the disease phenotype to European and Asian series reported.In our cohort, all patients had stage IV IVL at diagnosis, with a median age of 66.7 years (range 47.2-90.8). Clinical presentation was characterized by constitutional symptoms (100%), poor ECOG-PS (100% ≥ 2), cytopenias (93% anemia), and elevated lactate dehydrogenase (97%) and C-reactive protein (96%). Our cohort presented with mainly cutaneous and neurological symptoms. However, neurological involvement (75.9%) was predominant and no "cutaneous variant" was observed; this differs from European literature, where "classical" IVL is reported with mainly cutaneous involvement. Two of our Caucasian patients presented "Asian variant" IVL; this observation is not unusual, as cases of "classical" IVL have been reported in Asians and "Asian variant" IVL has been reported in Europeans. All patients were classified according to their immunophenotypic features in 3 different subgroups (CD5 or CD5CD10, CD5CD10, CD5CD10) with no difference in outcome. Finally, 62% of our cohort received anthracycline-based chemotherapy and 53% of them achieved a complete response. After a median follow-up of 328 days, OS at 3 years was 42.7% for the entire cohort and 47.4% for the cases with in vivo diagnosis. Unlike European studies on "classical" IVL, our study showed that the French Canadian presentation of this subtype of IVL is more frequently observed with neurological rather than cutaneous involvement. Finally, an early diagnosis is of primary importance since almost a quarter of patients receive a post-mortem diagnosis. A prompt diagnosis allows the introduction of an early treatment, associated with a CR in 53% of patients.

Neurofibromatosis and Schwannomatosis.

PubMed

Plotkin, Scott R; Wick, Antje

2018-02-01

Neurofibromatosis 1, neurofibromatosis 2, and schwannomatosis are a group of related classically inherited but often times sporadic tumor suppressor syndromes. Neuro-oncologists should recognize these syndromes, initiate necessary tests in patients with a clinical suspicion, and support genetic counseling of patients and families. In this review, clinical presentation, diagnostic criteria, day-to-day management including supportive care as well as updates on genetics, and experimental treatment strategies are discussed. Thieme Medical Publishers 333 Seventh Avenue, New York, NY 10001, USA.

Sorting out pestiviral phylogeny: A tale of viral swarms, red herrings, and sons of Bs

USDA-ARS?s Scientific Manuscript database

Initially three species, border disease virus (BDV), bovine viral diarrhea virus (BVDV), and classical swine fever virus (CSFV), were recognized in the pestivirus genus. These three species were defined by their host of origin, and to a lesser extent by clinical presentation. Subsequently, attempts ...

Neuropsychiatric Systemic Lupus Erythematosus Involvement: Towards a Tailored Approach to Our Patients?

PubMed Central

Faria, Raquel; Gonçalves, João; Dias, Rita

2017-01-01

Neuropsychiatric involvement in systemic lupus erythematosus (NPSLE) is a complex condition that remains poorly understood, and includes heterogeneous manifestations involving both the central and peripheral nervous system, with disabling effects. There are several models to improve NPSLE diagnosis when a neurological syndrome is present. In the last couple of years, the growing knowledge of the role of cytokines and antibodies in NPSLE, as well as the development of new functional imaging techniques, has brought some insights into the physiopathology of the disease, but their validation for clinical use remains undetermined. Furthermore, besides the classic clinical approach, a new tool for screening the 19 NPSLE syndromes has also been developed. Regarding NPSLE therapeutics, there is still no evidence-based treatment approach, but some data support the safety of biological medication when classic treatment fails. Despite the tendency to reclassify SLE patients in clinical and immunological subsets, we hope that these data will inspire medical professionals to approach NPSLE in a manner more tailored to the individual patient. PMID:28178431

Neuropsychiatric Systemic Lupus Erythematosus Involvement: Towards a Tailored Approach to Our Patients?

PubMed

Faria, Raquel; Gonçalves, João; Dias, Rita

2017-01-30

Neuropsychiatric involvement in systemic lupus erythematosus (NPSLE) is a complex condition that remains poorly understood, and includes heterogeneous manifestations involving both the central and peripheral nervous system, with disabling effects. There are several models to improve NPSLE diagnosis when a neurological syndrome is present. In the last couple of years, the growing knowledge of the role of cytokines and antibodies in NPSLE, as well as the development of new functional imaging techniques, has brought some insights into the physiopathology of the disease, but their validation for clinical use remains undetermined. Furthermore, besides the classic clinical approach, a new tool for screening the 19 NPSLE syndromes has also been developed. Regarding NPSLE therapeutics, there is still no evidence-based treatment approach, but some data support the safety of biological medication when classic treatment fails. Despite the tendency to reclassify SLE patients in clinical and immunological subsets, we hope that these data will inspire medical professionals to approach NPSLE in a manner more tailored to the individual patient.

Classic hallucinogens in the treatment of addictions.

PubMed

Bogenschutz, Michael P; Johnson, Matthew W

2016-01-04

Addictive disorders are very common and have devastating individual and social consequences. Currently available treatment is moderately effective at best. After many years of neglect, there is renewed interest in potential clinical uses for classic hallucinogens in the treatment of addictions and other behavioral health conditions. In this paper we provide a comprehensive review of both historical and recent clinical research on the use of classic hallucinogens in the treatment of addiction, selectively review other relevant research concerning hallucinogens, and suggest directions for future research. Clinical trial data are very limited except for the use of LSD in the treatment of alcoholism, where a meta-analysis of controlled trials has demonstrated a consistent and clinically significant beneficial effect of high-dose LSD. Recent pilot studies of psilocybin-assisted treatment of nicotine and alcohol dependence had strikingly positive outcomes, but controlled trials will be necessary to evaluate the efficacy of these treatments. Although plausible biological mechanisms have been proposed, currently the strongest evidence is for the role of mystical or other meaningful experiences as mediators of therapeutic effects. Classic hallucinogens have an excellent record of safety in the context of clinical research. Given our limited understanding of the clinically relevant effects of classic hallucinogens, there is a wealth of opportunities for research that could contribute important new knowledge and potentially lead to valuable new treatments for addiction. Copyright © 2015 Elsevier Inc. All rights reserved.

[Discussion on six errors of formulas corresponding to syndromes in using the classic formulas].

PubMed

Bao, Yan-ju; Hua, Bao-jin

2012-12-01

The theory of formulas corresponding to syndromes is one of the characteristics of Treatise on Cold Damage and Miscellaneous Diseases (Shanghan Zabing Lun) and one of the main principles in applying classic prescriptions. It is important to take effect by following the principle of formulas corresponding to syndromes. However, some medical practitioners always feel that the actual clinical effect is far less than expected. Six errors in the use of classic prescriptions as well as the theory of formulas corresponding to syndromes are the most important causes to be considered, i.e. paying attention only to the local syndromes while neglecting the whole, paying attention only to formulas corresponding to syndromes while neglecting the pathogenesis, paying attention only to syndromes while neglecting the pulse diagnosis, paying attention only to unilateral prescription but neglecting the combined prescriptions, paying attention only to classic prescriptions while neglecting the modern formulas, and paying attention only to the formulas but neglecting the drug dosage. Therefore, not only the patients' clinical syndromes, but also the combination of main syndrome and pathogenesis simultaneously is necessary in the clinical applications of classic prescriptions and the theory of prescription corresponding to syndrome. In addition, comprehensive syndrome differentiation, modern formulas, current prescriptions, combined prescriptions, and drug dosage all contribute to avoid clinical errors and improve clinical effects.

Newly diagnosed T1 diabetes presenting with hypoglycemia due to simultaneous co-existence of Addison disease.

PubMed

Glynn, Nigel; Bashir, Mohammed; Smith, Diarmuid; Thompson, Christopher J

2014-09-01

Type 1 diabetes mellitus (TIDM) classically presents with symptomatic hyperglycemia and many patients develop diabetic ketoacidosis prior to their diagnosis. However, non-classical presentation or co-presentation with associated diseases may delay diagnosis or lead to challenges in acute, clinical management. An 18-yr-old girl presented to hospital with severe, symptomatic hypoglycemia. Clinical history and serum electrolyte concentrations suggested a diagnosis of adrenal insufficiency. She remained hypoglycemic until glucocorticoid replacement was commenced, at which point she developed persistent hyperglycemia requiring insulin therapy. Subsequent follow up confirmed the diagnosis of Addison's disease (AD), the treatment of which unmasked co-existing type 1 diabetes. Autoimmune diseases often cluster together in affected patients and first-degree relatives. Approximately 1 in 200 patients with T1DM develop AD. However, months or more commonly years usually elapse between the presentation of different autoimmune conditions. The co-diagnosis T1DM and AD in the acute setting is rare. Moreover, the first presentation of T1DM with severe hypoglycemia is even more exceptional. This case highlights the need for vigilance during the acute, emergency management of patients with autoimmune conditions and, in particular, to consider the possibility of concurrent antibody-mediated diseases which may need to be addressed during resuscitation. © 2014 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

Unusual Clinical Presentation of Hemobilia with Recurrent Vasovagal Episodes.

PubMed

Tiwari, Abhinav; Hammad, Tariq; Sharma, Himani; Qamar, Khola; Khan, Mohammad Saud; Khan, Zubair; Nawras, Ali; Sodeman, Thomas

2017-01-01

Hemobilia is caused by the abnormal connection between a blood vessel and the bile duct, which is usually iatrogenic and caused by hepatobiliary procedures. The classic triad of hemobilia includes biliary colic, obstructive jaundice, and gastrointestinal bleeding. We present the case of an 80-year-old man who had laparoscopic cholecystectomy complicated by hemobilia. He had an unusual presentation of hemobilia in the form of transient vasovagal episodes in addition to abdominal pain and hematochezia.

[Sudden cardiac death in the youth. Is the new subcutaneous implantable cardioverter defibrillator S-ICD an alternative solution?].

PubMed

Roche, N-C; Stefuriac, M; Dumitrescu, N; Charbonnel, A; Godreuil, C; Bonnevie, L

2015-02-01

Implantable cardioverter defibrillator (ICD) is well-recognized therapy to prevent sudden cardiac death. Classic ICD need the use of permanent endocavitary leads, which may cause serious troubles (lead dislodgement, ventricular perforation, lead infections, etc.). The subcutaneous implantable cardioverter defibrillator (S-ICD) is a new device provided by only a subcutaneous lead. It has been developed for the last five years and it is becoming at present a real alternative to classic ICD. We report a clinical case of a 34 y.o. woman who presented a sudden cardiac death and who benefited the implantation of this new technology. This paper deals with the potential indications, usefulness benefits, and problems of the S-ICD. Copyright © 2014 Elsevier Masson SAS. All rights reserved.

Clinical presentation resembling mucosal disease associated with 'HoBi'-like pestivirus in a field outbreak

USDA-ARS?s Scientific Manuscript database

The genus Pestivirus of the family Flaviviridae consists of four recognized species: Bovine viral diarrhea virus 1 (BVDV-1), Bovine viral diarrhea virus 2 (BVDV-2), Classical swine fever virus (CSFV) And Border disease virus (BDV). Recently, atypical pestiviruses (‘HoBi’-like pestiviruses) were iden...

Melorheostosis of the ulna.

PubMed

Abdullah, Shalimar; Pang, Gerry M H; Mohamed-Haflah, Nor Hazla; Sapuan, Jamari

2011-10-01

Melorheostosis is a rare osteosclerotic bone dysplasia. It is usually characterized by dull and aching pain, reduced joint motion and contractures. Classic radiograph findings are of undulating cortical hyperostosis along the length of the bone, simulating a "dripping candlewax appearance". We report two cases of melorheostosis of the ulna bone, diagnosed 6 years apart in two different females in their early 20s. Both the patients presented with the characteristic features of dull and aching pain in the forearm and were treated conservatively. However, we misdiagnosed the first case as bone malignancy and subjected the patient to a biopsy. For the second case, with hindsight we made the correct diagnosis based only on the classic clinical history and radiographs. We believe that the discussion of a misdiagnosed case of melorheostosis with salient findings may be important for clinicians and orthopedicians in day-to-day clinical practice. Copyright © 2011. Published by Elsevier B.V.

Classic Bartter syndrome: a rare cause of failure to thrive in a child.

PubMed

Vieira, Helena; Mendes, Leonor; Mendes, Patricia; da Silva, José Esteves

2012-06-28

Bartter syndrome is a group of rare autosomal-recessive disorders caused by a defect in distal tubule transport of sodium and chloride. Blood gases and plasma electrolytes raise suspicion of this diagnosis and the definitive diagnosis is made by genetic study. Early treatment improves prognosis. The authors present the case of an 11-month-old child with early failure to thrive and severe regurgitation. Blood gases revealed hypochloraemic metabolic alkalosis, hyponatraemia and hypokalaemia. Blood pressure was normal and polyuria was documented. She began therapy with potassium chloride supplementation and indomethacin. There was clinical improvement and plasma potassium and bicarbonate normalised. The molecular study confirmed it was the classic form of Bartter syndrome. Despite being rare in clinical practice, which may lead to unnecessary medical investigation and diagnosis delay, in a child with failure to thrive, hypochloraemic metabolic alkalosis and hypokalaemia, this diagnosis must be considered.

Classic Bartter syndrome: a rare cause of failure to thrive in a child

PubMed Central

Vieira, Helena; Mendes, Leonor; Mendes, Patricia; da Silva, José Esteves

2012-01-01

Bartter syndrome is a group of rare autosomal-recessive disorders caused by a defect in distal tubule transport of sodium and chloride. Blood gases and plasma electrolytes raise suspicion of this diagnosis and the definitive diagnosis is made by genetic study. Early treatment improves prognosis. The authors present the case of an 11-month-old child with early failure to thrive and severe regurgitation. Blood gases revealed hypochloraemic metabolic alkalosis, hyponatraemia and hypokalaemia. Blood pressure was normal and polyuria was documented. She began therapy with potassium chloride supplementation and indomethacin. There was clinical improvement and plasma potassium and bicarbonate normalised. The molecular study confirmed it was the classic form of Bartter syndrome. Despite being rare in clinical practice, which may lead to unnecessary medical investigation and diagnosis delay, in a child with failure to thrive, hypochloraemic metabolic alkalosis and hypokalaemia, this diagnosis must be considered. PMID:22744244

Vaccine development for emerging virulent infectious diseases.

PubMed

Maslow, Joel N

2017-10-04

The recent outbreak of Zaire Ebola virus in West Africa altered the classical paradigm of vaccine development and that for emerging infectious diseases (EIDs) in general. In this paper, the precepts of vaccine discovery and advancement through pre-clinical and clinical assessment are discussed in the context of the recent Ebola virus, Middle East Respiratory Syndrome coronavirus (MERS-CoV), and Zika virus outbreaks. Clinical trial design for diseases with high mortality rates and/or high morbidity in the face of a global perception of immediate need and the factors that drive design in the face of a changing epidemiology are presented. Vaccines for EIDs thus present a unique paradigm to standard development precepts. Copyright © 2017 Elsevier Ltd. All rights reserved.

Not as skinny as we used to think: Body mass index in children and adolescents at diagnosis of type 1 diabetes mellitus.

PubMed

Manyanga, Taru; Sellers, Elizabeth A C; Wicklow, Brandy A; Doupe, Malcolm; Fransoo, Randall

2016-03-01

This retrospective analysis of clinical data for children (2-18 years old) with incident T1D found surprisingly low (9%) prevalence of underweight, and high (15% overweight; 8% obesity) respectively at diagnosis. These results suggests a need to rethink the classic clinical teaching surrounding skinnier presentation at diagnosis, and importantly, the corresponding expectation of weight gain after insulin therapy initiation. Copyright © 2016 Elsevier Inc. All rights reserved.

Clinical manifestations of primary hyperthyroidism in the elderly patients at the out-patient clinic of Srinagarind Hospital.

PubMed

Limpawattana, Panita; Sawanyawisut, Kittisak; Mahankanukrau, Ajanee; Wongwipaporn, Chaiyasit

2006-02-01

The authors reviewed the outpatient charts diagnosed as hyperthyroidism at Srinagarind Hospital from June 1998-June 2004. The objective was to compare the clinical features of hyperthyroidism in patients older and younger than 60 years old. There were 922 cases enrolled, 84 cases (9.11%) were 60 years old and above. The female: male ratio was 3.4:1 and 4:1 and the mean ages were 64.2 +/- 3.7 and 37.4 +/- 11.2 years old in the elder and younger group, respectively. The common presentations were dyspnea (94.1, 96.5%), weight loss (93.8, 87.9%) and palpitation (83.3, 93.1%) in the elder and younger, respectively. The more significant clinical presentations in the elder group were atrial fibrillation, weakness and anorexia whereas exophthalmos, goiter, heat intolerance and hyperhidrosis were not as frequent. Thus, the classic presentations often lacked in the elder group. Therefore, unexplained AF, weakness and anorexia should not exclude hyperthyroidism even with paucity of typical clinical features.

Growth hormone deficiency with advanced bone age: phenotypic interaction between GHRH receptor and CYP21A2 mutations diagnosed by sanger and whole exome sequencing.

PubMed

Correa, Fernanda A; França, Marcela M; Fang, Qing; Ma, Qianyi; Bachega, Tania A; Rodrigues, Andresa; Ozel, Bilge A; Li, Jun Z; Mendonca, Berenice B; Jorge, Alexander A L; Carvalho, Luciani R; Camper, Sally A; Arnhold, Ivo J P

2017-12-01

Isolated growth hormone deficiency (IGHD) is the most common pituitary hormone deficiency and, clinically, patients have delayed bone age. High sequence similarity between CYP21A2 gene and CYP21A1P pseudogene poses difficulties for exome sequencing interpretation. A 7.5 year-old boy born to second-degree cousins presented with severe short stature (height SDS -3.7) and bone age of 6 years. Clonidine and combined pituitary stimulation tests revealed GH deficiency. Pituitary MRI was normal. The patient was successfully treated with rGH. Surprisingly, at 10.8 years, his bone age had advanced to 13 years, but physical exam, LH and testosterone levels remained prepubertal. An ACTH stimulation test disclosed a non-classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency explaining the bone age advancement and, therefore, treatment with cortisone acetate was added. The genetic diagnosis of a homozygous mutation in GHRHR (p.Leu144His), a homozygous CYP21A2 mutation (p.Val282Leu) and CYP21A1P pseudogene duplication was established by Sanger sequencing, MLPA and whole-exome sequencing. We report the unusual clinical presentation of a patient born to consanguineous parents with two recessive endocrine diseases: non-classic congenital adrenal hyperplasia modifying the classical GH deficiency phenotype. We used a method of paired read mapping aided by neighbouring mis-matches to overcome the challenges of exome-sequencing in the presence of a pseudogene.

An unusual case of primary spontaneous tension pneumothorax in a jamaican female.

PubMed

Johnson, M; French, S; Cornwall, D

2014-06-01

Spontaneous pneumothorax is a well-recognized entity with a classical presentation of acute onset chest pain and shortness of breath. It may be complicated by the development of a tension pneumothorax or a haemopneumothorax. We report an interesting case of a spontaneous tension haemopneumothorax which presented atypically and was diagnosed on computed tomography (CT) scan of the chest. The clinical and pathophysiological characteristics and treatment of this unusual entity is discussed.

The Rat Model in Microsurgery Education: Classical Exercises and New Horizons

PubMed Central

Shurey, Sandra; Akelina, Yelena; Legagneux, Josette; Malzone, Gerardo; Jiga, Lucian

2014-01-01

Microsurgery is a precise surgical skill that requires an extensive training period and the supervision of expert instructors. The classical training schemes in microsurgery have started with multiday experimental courses on the rat model. These courses have offered a low threat supervised high fidelity laboratory setting in which students can steadily and rapidly progress. This simulated environment allows students to make and recognise mistakes in microsurgery techniques and thus shifts any related risks of the early training period from the operating room to the lab. To achieve a high level of skill acquisition before beginning clinical practice, students are trained on a comprehensive set of exercises the rat model can uniquely provide, with progressive complexity as competency improves. This paper presents the utility of the classical rat model in three of the earliest microsurgery training centres and the new prospects that this versatile and expansive training model offers. PMID:24883268

Five classic articles in somatic cell reprogramming.

PubMed

Park, In-Hyun

2010-09-01

Research on somatic cell reprogramming has progressed significantly over the past few decades, from nuclear transfer into frogs' eggs in 1952 to the derivation of human-induced pluripotent stem (iPS) cells in the present day. In this article, I review five landmark papers that have laid the foundation for current efforts to apply somatic cell reprogramming in the clinic.

Treatment of a Disorder of Self through Functional Analytic Psychotherapy

ERIC Educational Resources Information Center

Ferro-Garcia, Rafael; Lopez-Bermudez, Miguel Angel; Valero-Aguayo, Luis

2012-01-01

This paper presents a clinical case study of a depressed female, treated by means of Functional Analytic Psychotherapy (FAP) based on the theory and techniques for treating an "unstable self" (Kohlenberg & Tsai, 1991), instead of the classic treatment for depression. The client was a 20-year-old college student. The trigger for her problems was a…

Ultrasound Findings in Tension Pneumothorax: A Case Report.

PubMed

Inocencio, Maxine; Childs, Jeannine; Chilstrom, Mikaela L; Berona, Kristin

2017-06-01

Delayed recognition of tension pneumothorax can lead to a mortality of 31% to 91%. However, the classic physical examination findings of tracheal deviation and distended neck veins are poorly sensitive in the diagnosis of tension pneumothorax. Point-of-care ultrasound is accurate in identifying the presence of pneumothorax, but sonographic findings of tension pneumothorax are less well described. We report the case of a 21-year-old man with sudden-onset left-sided chest pain. He was clinically stable without hypoxia or hypotension, and the initial chest x-ray study showed a large pneumothorax without mediastinal shift. While the patient was awaiting tube thoracostomy, a point-of-care ultrasound demonstrated findings of mediastinal shift and a dilated inferior vena cava (IVC) concerning for tension physiology, even though the patient remained hemodynamically stable. WHY SHOULD AN EMERGENCY PHYSICIAN BE AWARE OF THIS?: This case demonstrates a unique clinical scenario of ultrasound evidence of tension physiology in a clinically stable patient. Although this patient was well appearing without hypotension, respiratory distress, tracheal deviation, or distended neck veins, point-of-care ultrasound revealed mediastinal shift and a plethoric IVC. Given that the classic clinical signs of tension pneumothorax are not uniformly present, this case shows how point-of-care ultrasound may diagnose tension pneumothorax before clinical decompensation. Published by Elsevier Inc.

Tuberculous otitis in infants: temporal bone histopathology and clinical extrapolation.

PubMed

Nicolau, Yamileth; Northrop, Clarinda; Eavey, Roland

2006-08-01

The study of infant temporal bones with tuberculosis (TB) of the middle ear and mastoid could provide information to assist with clinical diagnosis in this population. The TB pandemic has become a critical global public health problem. With the rising incidence of the disease, otolaryngologists might encounter an increased frequency of otologic TB. Pediatric temporal bone reports of TB are rare. Light microscopic examination was performed on both temporal bones from an infant who died as a result of miliary TB. The tympanic membranes were thickened with dilated blood vessels, yet were intact without perforations. Purulence, granulation tissue, and classic tubercles were observed in the middle ears and mastoids. Serous labyrinthitis and inflammatory cells surrounding the Cranial Nerve VIII in the internal auditory canal were observed in the inner ear. The histological findings suggest that a clinical presentation of infantile tuberculous otitis media and mastoiditis could be a patient with otoscopic findings consistent with common otitis media with an intact tympanic membrane, likely in conjunction with inner ear symptoms. Lacking the classic finding of multiple tympanic membrane perforations, tuberculous otitis might be underappreciated in this population.

Clozapine-induced systemic lupus erythematosus.

PubMed

Rami, Abu Fanne; Barkan, Daniel; Mevorach, Dror; Leitersdorf, Eran; Caraco, Yoseph

2006-05-01

To report a case of classic clozapine-induced systemic lupus erythematosus that also developed on rechallenge. A 32-year-old white woman diagnosed with schizophrenia presented in 1996 with clinical characteristics and laboratory markers consistent with drug-induced lupus (DIL). Clozapine, started 1 year prior, was withdrawn, with complete biological and clinical remission within 3 months. In 2004, 1 week after rechallenge with clozapine for uncontrolled schizophrenia, the patient developed clinical and biological signs and symptoms consistent with the diagnosis of DIL. Again, discontinuation of clozapine was followed by full remission within 2-3 months. DIL was first described more than 50 years ago, with multiple drugs implicated in the causation. Clozapine-induced lupus was reported recently, but does not meet the usual criteria for a diagnosis of DIL. We report a classic case of clozapine-induced lupus that, according to the Naranjo probability scale, demonstrates a highly probable relationship between DIL and clozapine. DIL demands a high index of suspicion for diagnosis. Although clozapine has an extensive safety profile, DIL must be considered as one of its serious adverse effects.

Is tapentadol different from classical opioids? A review of the evidence

PubMed Central

Langford, Richard M; Knaggs, Roger; Farquhar-Smith, Paul; Dickenson, Anthony H

2016-01-01

Tapentadol is a single molecule able to deliver analgesia by two distinct mechanisms, a feature which differentiates it from many other analgesics. Pre-clinical data demonstrate two mechanisms of action: mu-opioid receptor agonist activity and noradrenaline re-uptake inhibition. From these, one may predict that tapentadol would be applicable across a broad spectrum of pain from nociceptive to neuropathic. The evidence in animal models suggests that norepinephrine re-uptake inhibition (NRI) is a key mechanism and may even predominate over opioid actions in chronic (and especially neuropathic) pain states, reinforcing that tapentadol is different to classical opioids and may, therefore, be an a priori choice for the treatment of neuropathic and mixed pain. The clinical studies and subsequent practice experience and surveillance support the concept of opioid and non-opioid mechanisms of action. The reduced incidence of some of the typical opioid-induced side effects, compared to equianalgesic doses of classical opioids, supports the hypothesis that tapentadol analgesia is only partially mediated by opioid agonist mechanisms. Both the pre-clinical and clinical profiles appear to be differentiated from those of classical opioids. PMID:27867511

Is tapentadol different from classical opioids? A review of the evidence.

PubMed

Langford, Richard M; Knaggs, Roger; Farquhar-Smith, Paul; Dickenson, Anthony H

2016-11-01

Tapentadol is a single molecule able to deliver analgesia by two distinct mechanisms, a feature which differentiates it from many other analgesics. Pre-clinical data demonstrate two mechanisms of action: mu-opioid receptor agonist activity and noradrenaline re-uptake inhibition. From these, one may predict that tapentadol would be applicable across a broad spectrum of pain from nociceptive to neuropathic. The evidence in animal models suggests that norepinephrine re-uptake inhibition (NRI) is a key mechanism and may even predominate over opioid actions in chronic (and especially neuropathic) pain states, reinforcing that tapentadol is different to classical opioids and may, therefore, be an a priori choice for the treatment of neuropathic and mixed pain. The clinical studies and subsequent practice experience and surveillance support the concept of opioid and non-opioid mechanisms of action. The reduced incidence of some of the typical opioid-induced side effects, compared to equianalgesic doses of classical opioids, supports the hypothesis that tapentadol analgesia is only partially mediated by opioid agonist mechanisms. Both the pre-clinical and clinical profiles appear to be differentiated from those of classical opioids.

Pruritus is a common feature in sheep infected with the BSE agent

PubMed Central

Konold, Timm; Bone, Gemma; Vidal-Diez, Alberto; Tortosa, Raul; Davis, Andrew; Dexter, Glenda; Hill, Peter; Jeffrey, Martin; Simmons, Marion M; Chaplin, Melanie J; Bellworthy, Susan J; Berthelin-Baker, Christine

2008-01-01

Background The variability in the clinical or pathological presentation of transmissible spongiform encephalopathies (TSEs) in sheep, such as scrapie and bovine spongiform encephalopathy (BSE), has been attributed to prion protein genotype, strain, breed, clinical duration, dose, route and type of inoculum and the age at infection. The study aimed to describe the clinical signs in sheep infected with the BSE agent throughout its clinical course to determine whether the clinical signs were as variable as described for classical scrapie in sheep. The clinical signs were compared to BSE-negative sheep to assess if disease-specific clinical markers exist. Results Forty-seven (34%) of 139 sheep, which comprised 123 challenged sheep and 16 undosed controls, were positive for BSE. Affected sheep belonged to five different breeds and three different genotypes (ARQ/ARQ, VRQ/VRQ and AHQ/AHQ). None of the controls or BSE exposed sheep with ARR alleles were positive. Pruritus was present in 41 (87%) BSE positive sheep; the remaining six were judged to be pre-clinically infected. Testing of the response to scratching along the dorsum of a sheep proved to be a good indicator of clinical disease with a test sensitivity of 85% and specificity of 98% and usually coincided with weight loss. Clinical signs that were displayed significantly earlier in BSE positive cases compared to negative cases were behavioural changes, pruritic behaviour, a positive scratch test, alopecia, skin lesions, teeth grinding, tremor, ataxia, loss of weight and loss of body condition. The frequency and severity of each specific clinical sign usually increased with the progression of disease over a period of 16–20 weeks. Conclusion Our results suggest that BSE in sheep presents with relatively uniform clinical signs, with pruritus of increased severity and abnormalities in behaviour or movement as the disease progressed. Based on the studied sheep, these clinical features appear to be independent of breed, affected genotype, dose, route of inoculation and whether BSE was passed into sheep from cattle or from other sheep, suggesting that the clinical phenotype of BSE is influenced by the TSE strain more than by other factors. The clinical phenotype of BSE in the genotypes and breed studied was indistinguishable from that described for classical scrapie cases. PMID:18445253

A descriptive analysis of 14 cases of progressive-psuedorheumatoid-arthropathy of childhood from south India: review of literature in comparison with juvenile idiopathic arthritis.

PubMed

Ekbote, Alka V; Danda, Debashish; Kumar, Sathish; Danda, Sumita; Madhuri, Vrisha; Gibikote, Sridhar

2013-06-01

Progressive-psuedorheumatoid-arthropathy of childhood (PPAC) is an autosomal recessive single gene skeletal dysplasia involving joints. The gene attributed to its cause is WNT1-inducible-signaling pathway protein3 (WISP3). To study the clinical and radiographic presentation of PPAC in Indian patients and to compare with described features of PPAC and Juvenile Idiopathic Arthritis (JIA) from published literature. All cases (n = 14) of PPAC seen in the Rheumatology and Clinical Genetics outpatient clinic between 2008 and 2011 with classical, clinical, and radiological features were studied. The demographic and clinical data were obtained from medical records of the outpatient visits. Slight female preponderance (57%) and history of consanguinity in parents (43%) was observed in this group. The median age at onset was 4.5 years (range from birth to 9 years of age). Early presentation below the age of 3 years was seen in 3/14 patients (21%) in this group. The growth of all the patients fell below the 3rd percentile for the age. Historically, hip joint involvement was the most common presenting feature; however, elbow, wrist, knees, feet, spine, shoulder joints and small joints, namely proximal interphalangeal (PIP), distal interphalangeal (DIP), metacarpophalangeal (MCP), metatarsophalangeal joints (MTP), and interphalangeal joints (IP) of the feet, were also involved, either clinically or radiologically in varying proportions. Platyspondyly was noted in all. Molecular analysis of the WISP3 gene identified mutations in all the 5 individuals in whom it was done. This descriptive case series of PPAC from India reports distinctly differentiating clinical, radiological, and molecular markers in contrast with classically described features of JIA, its mimic. Early presentation (age of onset below 3 years) with involvement of interphalangeal joints seen in three patients (21%) was a unique finding, with missense WISP3 gene mutations in all of them. Timely diagnosis of this entity can spare the patient from unnecessary investigations and toxic medications. Copyright © 2013 Elsevier Inc. All rights reserved.

Clinical presentation of children with pulmonary tuberculosis: 25 years of experience in Lima, Peru.

PubMed

Del Castillo-Barrientos, H; Centeno-Luque, G; Untiveros-Tello, A; Simms, B; Lecca, L; Nelson, A K; Lastimoso, C; Shin, S

2014-09-01

To describe clinical presentation across age groups in 2855 children with pulmonary tuberculosis (TB) attending the Children's Hospital, Lima, Peru, to improve the diagnosis, treatment and care of childhood TB. Children aged 0-14 years admitted between 1 January 1973 and 31 December 1997 with active pulmonary TB were enrolled. Demographic information, history, physical examination data, laboratory and microbiological results, chest radiograph data, disease classification, treatment and adverse effect data, and outcome at the time of discharge were recorded by pulmonologists using detailed chart abstractions. Of the 2855 enrollees, 47% were malnourished and 56% had a household contact. Older children presented with classic TB symptoms, while weight loss and anorexia were rare in children aged <5 years. Microbiological or pathologic confirmation was obtained in 71% of children aged 10-14 years compared with 34% of children aged <2 years; however, severe extra-pulmonary TB was most common among children aged <2 years (41%). Classic TB symptoms should be considered when making a diagnosis; however, systematic symptoms among young children are also important. In high-burden settings, clinicians should have a low threshold to diagnose and treat children for TB across all ages, even in the context of a negative tuberculin skin test result and lack of micro-pathological confirmation.

Blood volume analysis: a new technique and new clinical interest reinvigorate a classic study.

PubMed

Manzone, Timothy A; Dam, Hung Q; Soltis, Daniel; Sagar, Vidya V

2007-06-01

Blood volume studies using the indicator dilution technique and radioactive tracers have been performed in nuclear medicine departments for over 50 y. A nuclear medicine study is the gold standard for blood volume measurement, but the classic dual-isotope blood volume study is time-consuming and can be prone to technical errors. Moreover, a lack of normal values and a rubric for interpretation made volume status measurement of limited interest to most clinicians other than some hematologists. A new semiautomated system for blood volume analysis is now available and provides highly accurate results for blood volume analysis within only 90 min. The availability of rapid, accurate blood volume analysis has brought about a surge of clinical interest in using blood volume data for clinical management. Blood volume analysis, long a low-volume nuclear medicine study all but abandoned in some laboratories, is poised to enter the clinical mainstream. This article will first present the fundamental principles of fluid balance and the clinical means of volume status assessment. We will then review the indicator dilution technique and how it is used in nuclear medicine blood volume studies. We will present an overview of the new semiautomated blood volume analysis technique, showing how the study is done, how it works, what results are provided, and how those results are interpreted. Finally, we will look at some of the emerging areas in which data from blood volume analysis can improve patient care. The reader will gain an understanding of the principles underlying blood volume assessment, know how current nuclear medicine blood volume analysis studies are performed, and appreciate their potential clinical impact.

Hyperthyroidism in adults: variable clinical presentations and approaches to diagnosis.

PubMed

Knudson, P B

1995-01-01

Hyperthyroidism is a disease that has various symptoms and can present in many ways. In the elderly patient hyperthyroidism often is not expressed in the classical manner. A case report of a middle-aged man who had hyperthyroidism with only one symptom is detailed. A literature review utilizing MEDLINE files from 1988 to the present, as well as current textbooks of medicine and endocrinology, was used to prepare this report. Keywords for the search were "hyperthyroidism," "symptoms," "unintentional weight loss," and "differential diagnosis." The clinical presentation of hyperthyroidism can vary from almost asymptomatic to apathetic in appearance to a marked hyperdynamic physiologic response. Family physicians must be well informed of this variation in disease expression. Overlooking the diagnosis of this relatively easily treated condition can be detrimental to patient care and expensive.

[Essential thrombocythemia: baseline characteristics and risk factors for survival and thrombosis in a series of 214 patients].

PubMed

Angona, Anna; Alvarez-Larrán, Alberto; Bellosillo, Beatriz; Martínez-Avilés, Luz; Garcia-Pallarols, Francesc; Longarón, Raquel; Ancochea, Àgueda; Besses, Carles

2015-03-15

Two prognostic models to predict overall survival and thrombosis-free survival have been proposed: International Prognostic Score for Essential Thrombocythemia (IPSET) and IPSET-Thrombosis, respectively, based on age, leukocytes count, history of previous thrombosis, the presence of cardiovascular risk factors and the JAK2 mutational status. The aim of the present study was to assess the clinical and biological characteristics at diagnosis and during evolution in essential thrombocythemia (ET) patients as well as the factors associated with survival and thrombosis and the usefulness of these new prognostic models. We have evaluated the clinical data and the mutation status of JAK2, MPL and calreticulin of 214 ET patients diagnosed in a single center between 1985 and 2012, classified according to classical risk stratification, IPSET and IPSET-Thrombosis. With a median follow-up of 6.9 years, overall survival was not associated with any variable by multivariate analysis. Thrombotic history and leukocytes>10×10(9)/l were associated with thrombosis-free survival (TFS). In our series, IPSET prognostic systems of survival and thrombosis did not provide more clinically relevant information regarding the classic risk of thrombosis stratification. Thrombotic history and leukocytosis>10×10(9)/l were significantly associated with lower TFS, while the prognostic IPSET-Thrombosis system did not provide more information than classical thrombotic risk assessment. Copyright © 2014 Elsevier España, S.L.U. All rights reserved.

Natural history of the classical form of primary growth hormone (GH) resistance (Laron syndrome).

PubMed

Laron, Z

1999-04-01

A description of the clinical, biochemical and endocrinological features of the classical form of the syndrome of primary growth hormone (GH) resistance (Laron syndrome) is presented including the progressive changes during follow-up from infancy into adulthood. The main diagnostic features are: severe growth retardation, acromicria, small gonads and genitalia, and obesity. Serum GH levels are elevated and insulin-like growth factor-I (IGF-I) values are low and do not rise upon stimulation by exogenous hGH. The pathogenesis of this syndrome is due to various molecular defects from exon deletion to nonsense, frameshift, splice and missense mutations in the GH receptor (GH-R) gene or in its post-receptor pathways.

Overview of Classical Swine Fever (Hog Cholera, Classical Swine fever)

USDA-ARS?s Scientific Manuscript database

Classical swine fever is a contagious often fatal disease of pigs clinically characterized by high body temperature, lethargy, yellowish diarrhea, vomits and purple skin discoloration of ears, lower abdomen and legs. It was first described in the early 19th century in the USA. Later, a condition i...

Ciguatera poisoning in the Cook Islands.

PubMed

Bailey, Stephanie; Withers, Tristan

2014-06-25

This case report presents two British medical students who contracted ciguatera poisoning while on elective in the Cook Islands. Thirty-six hours after consuming two reef fish they developed paraesthesia of the mouth, hands and feet, myalgia, pruritis and cold allodynia. Neurological examination was normal. Diagnosis of ciguatera poisoning was made on history of reef fish consumption and classical clinical presentation. Management was symptomatic (antihistamines) and both students made a full recovery within 10 weeks. 2014 BMJ Publishing Group Ltd.

Ciguatera poisoning in the Cook Islands

PubMed Central

Bailey, Stephanie; Withers, Tristan

2014-01-01

This case report presents two British medical students who contracted ciguatera poisoning while on elective in the Cook Islands. Thirty-six hours after consuming two reef fish they developed paraesthesia of the mouth, hands and feet, myalgia, pruritis and cold allodynia. Neurological examination was normal. Diagnosis of ciguatera poisoning was made on history of reef fish consumption and classical clinical presentation. Management was symptomatic (antihistamines) and both students made a full recovery within 10 weeks. PMID:24966268

Aggressive Angioimmunoblastic T Cell Lymphomas (AITL) with Soft Tissue Extranodal Mass Varied Histopathological Patterns with Peripheral Blood, Bone Marrow, and Splenic Involvement and Review of Literature.

PubMed

Mukherjee, Tanushri; Dutta, Rajat; Pramanik, S

2018-03-01

Angioimmunoblastic T cell lymphoma (AITL) is a peripheral T cell non-Hodgkin lymphoma with an aggressive fatal course and it has varied clinical presentation with an uncommon presentation when they present as soft tissue masses or when there is spill in the peripheral blood or there are composite lymphomas that are rare presentations. Common presentations include lymphadenopathy, fever and systemic symptoms, hemolytic anemias, skin rashes, and rheumatoid arthritis. The classical histopathology is absence of follicles in lymph nodes with presence of high endothelial venules and the tumor cells of small to medium-sized lymphocytes with pale cytoplasm mixed with reactive T cells. On immunohistochemistry, the cells are positive for CD3, CD4, CD10, BCL2, and CXCL13. In this observational study, the clinicopathologic presentation and the immunohistochemical profile of five cases who initially presented with a soft tissue mass which is an extremely rare presentation of this rare type of non-Hodgkin lymphoma that was diagnosed at our center with peripheral blood and bone marrow involvement and the clinicopathologic presentation, immunohistochemical profile, and response to treatment on follow-up are correlated with the literature review. One case had a fulminant and aggressive course and was fatal within 2 months of diagnosis. The rest of the four cases are on regular chemotherapy and follow-up. Our five cases had presented with soft tissue masses, two in the axillary regio,n two in the hand, and one in the scapular region with an extranodal presentation, and there was associated lymphadenopathy which developed subsequently with classic histomorphology and immunohistochemical findings. The age range was 46-54 years and all five cases were males. Three cases were with anemia (hemoglobin range 6.5-8.0 mg/dl) and all five cases were having peripheral blood plasmacytosis. Histopathology was classic with paracortical involvement with polymorphous population of cells with neoplastic lymphocytes of small and large sizes with numerous arborizing blood vessels which correspond to high endothelial venules. Microscopically, three architectural patterns; pattern I was seen in three cases (60%) and then pattern II and III in one case each (20% each). Immunohistochemistry revealed CD4+, CD8-, CXCL13+, CD10+, BCL6+, CD19, CD20, CD1a, Tdt, CD21, and CD23+ in follicular dendritic cells. AITL is a rare and aggressive non-Hodgkin lymphoma with varied clinical presentation with classic histomorphology with various patterns which may cause diagnostic dilemma and immunophenotypic findings, and prompt and early diagnosis is mandatory for institution of therapy.

Paternal inheritance of classic X-linked bilateral periventricular nodular heterotopia.

PubMed

Kasper, Burkhard S; Kurzbuch, Katrin; Chang, Bernard S; Pauli, Elisabeth; Hamer, Hajo M; Winkler, Jürgen; Hehr, Ute

2013-06-01

Periventricular nodular heterotopia (PNH) is a developmental disorder of the central nervous system, characterized by heterotopic nodules of gray matter resulting from disturbed neuronal migration. The most common form of bilateral PNH is X-linked dominant inherited, caused by mutations in the Filamin A gene (FLNA) and associated with a wide variety of other clinical findings including congenital heart disease. The typical patient with FLNA-associated PNH is female and presents with difficult to treat seizures. In contrast, hemizygous FLNA loss of function mutations in males are reported to be perinatally lethal. In X-linked dominant traits like FLNA-associated PNH the causal mutation is commonly inherited from the mother. Here, we present an exceptional family with paternal transmission of classic bilateral FLNA-associated PNH from a mildly affected father with somatic and germline mosaicism for a c.5686G>A FLNA splice mutation to both daughters with strikingly variable clinical manifestation and PNH extent in cerebral MR imaging. Our observations emphasize the importance to consider in genetic counseling and risk assessment the rare genetic constellation of paternal transmission for families with X-linked dominant inherited FLNA-associated PNH. Copyright © 2013 Wiley Periodicals, Inc.

Actinic prurigo of the lip: Two case reports

PubMed Central

Miranda, Ana MO; Ferrari, Thiago M; Werneck, Juliana T; Junior, Arley Silva; Cunha, Karin S; Dias, Eliane P

2014-01-01

Actinic prurigo is a photodermatosis that can affect the skin, conjunctiva and lips. It is caused by an abnormal reaction to sunlight and is more common in high-altitude living people, mainly in indigenous descendants. The diagnosis of actinic prurigo can be challenging, mainly when lip lesions are the only manifestation, which is not a common clinical presentation. The aim of this article is to report two cases of actinic prurigo showing only lip lesions. The patients were Afro-American and were unaware of possible Indian ancestry. Clinical exam, photographs, videoroscopy examination and biopsy were performed, and the diagnosis of actinic prurigo was established. Topical corticosteroid and lip balm with ultraviolet protection were prescribed with excellent results. The relevance of this report is to show that although some patients may not demonstrate the classical clinical presentation of actinic prurigo, the associated clinical and histological exams are determinants for the correct diagnosis and successful treatment of this disease. PMID:25133153

A New Clinical Sign of Lumbrical Plus Finger.

PubMed

Schuind, Frédéric A; Moungondo, Fabian; Van Wetter, Pierre

2018-06-01

Paradoxical finger extension is the classical clinical presentation of the lumbrical plus syndrome. We report a new additional sign, increased metacarpophalangeal flexion of the involved finger when the patient tries to make a fist. Three cases of lumbrical tightness are discussed, illustrating this new sign in 3 different clinical settings. The new sign was present in all 3 cases. Lumbrical tenotomy corrected the paradoxical interphalangeal extension and partly the increased metacarpophalangeal flexion. The lumbrical tendon has a relatively high moment arm relative to the metacarpophalangeal joint, which could explain the basis of this clinical sign. This new physical examination sign may help in diagnosing the lumbrical plus syndrome, a subtle complication of flexor digitorum profundus lesions that is not easily diagnosed but which is easily addressed. Copyright © 2018 American Society for Surgery of the Hand. Published by Elsevier Inc. All rights reserved.

[Prostatic localization revealing an acute myeloid leukemia. Apropos of a case].

PubMed

Smaoui, S; Lecomte, M J; Peraldi, R; Pernin, F

1998-09-01

The authors report an original case of acute myeloid leukaemia (AML) presenting in the form of acute urinary retention, confirmed by prostatic biopsy, with complete absence of any non-urological clinical features. Prostatic sites of leukaemia are frequent and classically reported, but often occur during the course of known leukaemia, and are rarely symptomatic, justifying biopsies in the presence of any prostatic symptoms. Immunolabelling represents the key to the diagnosis in the presence of undifferentiated cells demonstrated on prostatic biopsies. The outcome was fatal in this case, despite early chemotherapy. The clinical features, clinical course and therapeutic aspects of prostatic leukaemia are discussed.

Clinical and immunological studies of 49 cases of various types of intercellular IgA dermatosis and 13 cases of classical subcorneal pustular dermatosis examined at Kurume University.

PubMed

Hashimoto, T; Teye, K; Ishii, N

2017-01-01

Intercellular IgA dermatosis (IAD) is a subset of autoimmune bullous disease exclusively with IgA antikeratinocyte cell-surface antibodies. The classification and pathogenesis of this condition are still obscure. To classify IAD and study its pathogenesis. From our cohort of 5402 cases of autoimmune bullous disease, we selected 49 cases of various types of intercellular IgA dermatosis (IAD) and 13 cases of classical subcorneal pustular dermatosis (SPD), for which sera and information were available. We studied these cases clinically and immunologically. There were 17 SPD-type IAD, 12 intraepidermal neutrophilic IgA dermatosis (IEN)-type IAD, two IgA-pemphigus vegetans, four IgA-pemphigus foliaceus, six IgA-pemphigus vulgaris and eight unclassified IAD cases. There was no sex predominance, and the average age at disease onset was 45·9 years. Clinically, bullous and pustular skin lesions developed on various sites, particularly intertriginous areas. Histopathology showed intraepidermal blisters or pustules at the upper epidermis in the SPD-type and at the midepidermis in the IEN-type. Immunological studies revealed that direct immunofluorescence, indirect immunofluorescence of normal human skin and enzyme-linked immunosorbent assays (ELISAs) of recombinant proteins of desmogleins and desmocollins frequently showed positive results, although no antigens were detected in many cases. All cases of classical SPD, which showed no positive immunological results, were indistinguishable clinically and histopathologically from SPD-type IAD. The present study of the largest cohort of cases of IAD showed that the major subtypes are SPD and IEN, and that the combination of indirect immunofluorescence and ELISAs of desmogleins and desmocollins, in addition to direct immunofluorescence, was useful for the diagnosis of IAD and its subtypes. © 2016 British Association of Dermatologists.

Classic form of eosinophilic pustular folliculitis in an immunocompetent girl: rapid and complete resolution after low-dose oral indomethacin treatment.

PubMed

Monastirli, Alexandra; Antoniades, George; Kapranos, Nikiforos; Pasmatzi, Efstathia; Badavanis, George; Tsambaos, Dionysios

2017-11-15

Eosinophilic pustular folliculitis (EPF) is a rare noninfectious pruritic dermatosis, first described by Ise and Ofuji in 1965. We report the case of a 15-year oldimmunocompetent girl that presented with a widespread papulopustular eruption four days after her arrival in Japan. The clinical diagnosis of the classicform of EPF was confirmed by histological examination of the lesional skin that revealed an intense, mainly eosinophilic, dermal infiltrate within and aroundpilosebaceous units. Oral administration of lowdose indomethacin (25 mg/day) led to a complete resolution of the eruption within 6 weeks without causing any side effects. The patient is presently completing a 15-month follow-up and remains free ofrelapses. To the best of our knowledge, it is the first time that low-dose oral indomethacin is reported to be capable of causing a rapid and complete resolutionof the classic form of EPF.

Studying the effects of classic hallucinogens in the treatment of alcoholism: rationale, methodology, and current research with psilocybin.

PubMed

Bogenschutz, Michael P

2013-03-01

Recent developments in the study of classic hallucinogens, combined with a re-appraisal of the older literature, have led to a renewal of interest in possible therapeutic applications for these drugs, notably their application in the treatment of addictions. This article will first provide a brief review of the research literature providing direct and indirect support for the possible therapeutic effects of classic hallucinogens such as psilocybin and lysergic acid diethylamide (LSD) in the treatment of addictions. Having provided a rationale for clinical investigation in this area, we discuss design issues in clinical trials using classic hallucinogens, some of which are unique to this class of drug. We then discuss the current status of this field of research and design considerations in future randomized trials.

Clinical presentation and diagnostic workup for community-acquired pneumonia: the Gulf Corporation Council CAP Working Group consensus statement.

PubMed

Memish, Z A; Arabi, Y M; Ahmed, Q A; Al Jahdali, H; Shibl, A M; Niederman, M S

2007-10-01

Community-acquired pneumonia (CAP) is diagnosed on the basis of a suggestive history and compatible physical findings and new infiltrates on a chest radiograph. No criteria or combination of criteria based on history and physical examination have been found to be gold standard. With the rise in elderly Gulf Cooperation Council (GCC) residents, CAP is likely to present with non-classical manifestations such as somnolence, new anorexia, and confusion and carries a worse outcome than CAP in their younger counterparts. Tuberculosis should be considered in the differential diagnosis of unresolving CAP in the GCC region. Diagnostic work up depends on severity of CAP, clinical course and underlying risk factors.

Unilateral RS3PE in a Patient of Seronegative Rheumatoid Arthritis.

PubMed

Varshney, Ankur Nandan; Kumar, Nilesh; Tiwari, Ashutosh; Anand, Ravi; Prasad, Sashi Ranjan; Anand, Arvind; Mishra, Abhinandan; Singh, N K

2013-01-01

Remitting seronegative symmetrical synovitis with pitting edema (RS3PE) is a rare but well-reported clinical entity. It is classically described as symmetrical involvement of both upper extremities. Asymmetrical involvement had also been reported, but unilateral presentation is very rare. We hereby report a case of unilateral RS3PE in a patient of seronegative rheumatoid arthritis which was initially misdiagnosed as cellulitis and was given high dose antibiotics without any significant improvement. Later a rheumatologic consultation leads to a prompt diagnosis, and treatment with steroids leads to dramatic reversal of symptoms. This case demonstrates the rare presentation of this rare clinical entity and highlights the necessity of awareness regarding unilateral disease to clinicians.

Molluscum-like lesions in a patient with sporotrichosis.

PubMed

Schechtman, Regina Casz; Crignis, Giselly Silva Neto De; Pockstaller, Mercedes Prates; Azulay-Abulafia, Luna; Quintella, Leonardo Pereira; Belo, Márcia

2011-01-01

Sporotrichosis is a subcutaneous fungal infection caused by Sporothrix schenckii and acquired by direct inoculation. Although the majority of cases consist of the classic lymphocutaneous presentation, the frequency of atypical and severe clinical forms of the disease has increased progressively. Systemic and disseminated cutaneous sporotrichosis constitute rare variants and such cases are generally associated with cellular immunodeficiency or debilitated states. The present paper describes the first published case of molluscum-like lesions in disseminated mucocutaneous sporotrichosis. Direct mycological examination and histopathology revealed numerous yeast cells.

Modification of hormonal secretion in clinically silent pituitary adenomas.

PubMed

Daems, Tania; Verhelst, Johan; Michotte, Alex; Abrams, Pascale; De Ridder, Dirk; Abs, Roger

2009-01-01

Silent pituitary adenomas are a subtype of adenomas characterized by positive immunoreactivity for one or more hormones classically secreted by normal pituitary cells but without clinical expression, although in some occasions enhanced or changed secretory activity can develop over time. Silent corticotroph adenomas are the classical example of this phenomenon. A series of about 500 pituitary adenomas seen over a period of 20 years were screened for modification in hormonal secretion. Biochemical and immunohistochemical data were reviewed. Two cases were retrieved, one silent somatotroph adenoma and one thyrotroph adenoma, both without specific clinical features or biochemical abnormalities, which presented 20 years after initial surgery with evidence of acromegaly and hyperthyroidism, respectively. While the acromegaly was controlled by a combination of somatostatin analogs and growth hormone (GH) receptor antagonist therapy, neurosurgery was necessary to manage the thyrotroph adenoma. Immunohistochemical examination demonstrated an increase in the number of thyroid stimulating hormone (TSH)-immunoreactive cells compared to the first tissue. Apparently, the mechanisms responsible for the secretory modifications are different, being a change in secretory capacity in the silent somatotroph adenoma and a quantitative change in the silent thyrotroph adenoma. These two cases, one somatotroph and one thyrotroph adenoma, are an illustration that clinically silent pituitary adenomas may in rare circumstances evolve over time and become active, as previously demonstrated in silent corticotroph adenomas.

Intrahepatic cholestasis of pregnancy: When should you look further?

PubMed Central

Hardikar, Winita; Kansal, Shivani; Elferink, Ronald P J Oude; Angus, Peter

2009-01-01

Pruritis with abnormal liver function tests is the classical presentation of intrahepatic cholestasis of pregnancy (ICP), a condition associated with significant fetal complications. Although the etiology of ICP is unclear in many cases, certain features of the clinical presentation should alert the practitioner to the possibility of an underlying metabolic defect, which may not only affect subsequent pregnancies, but may be an indicator of more serious subsequent liver disease. We report a kindred of Anglo-Celtic descent, among whom many members present with ICP, gallstones or cholestasis related to use of oral contraception. Genetic studies revealed a novel mutation in the ABCB4 gene, which codes for a phospholipid transport protein. The clinical significance of this mutation and the importance of identifying such patients are discussed. PMID:19266607

Atypical scrapie in sheep from a UK research flock which is free from classical scrapie

PubMed Central

Simmons, Hugh A; Simmons, Marion M; Spencer, Yvonne I; Chaplin, Melanie J; Povey, Gill; Davis, Andrew; Ortiz-Pelaez, Angel; Hunter, Nora; Matthews, Danny; Wrathall, Anthony E

2009-01-01

Background In the wake of the epidemic of bovine spongiform encephalopathy the British government established a flock of sheep from which scrapie-free animals are supplied to laboratories for research. Three breeds of sheep carrying a variety of different genotypes associated with scrapie susceptibility/resistance were imported in 1998 and 2001 from New Zealand, a country regarded as free from scrapie. They are kept in a purpose-built Sheep Unit under strict disease security and are monitored clinically and post mortem for evidence of scrapie. It is emphasised that atypical scrapie, as distinct from classical scrapie, has been recognised only relatively recently and differs from classical scrapie in its clinical, neuropathological and biochemical features. Most cases are detected in apparently healthy sheep by post mortem examination. Results The occurrence of atypical scrapie in three sheep in (or derived from) the Sheep Unit is reported. Significant features of the affected sheep included their relatively high ages (6 y 1 mo, 7 y 9 mo, 9 y 7 mo respectively), their breed (all Cheviots) and their similar PRNP genotypes (AFRQ/AFRQ, AFRQ/ALRQ, and AFRQ/AFRQ, respectively). Two of the three sheep showed no clinical signs prior to death but all were confirmed as having atypical scrapie by immunohistochemistry and Western immunoblotting. Results of epidemiological investigations are presented and possible aetiologies of the cases are discussed. Conclusion By process of exclusion, a likely explanation for the three cases of atypical scrapie is that they arose spontaneously and were not infected from an exterior source. If correct, this raises challenging issues for countries which are currently regarded as free from scrapie. It would mean that atypical scrapie is liable to occur in flocks worldwide, especially in older sheep of susceptible genotypes. To state confidently that both the classical and atypical forms of scrapie are absent from a population it is necessary for active surveillance to have taken place. PMID:19208228

A case of methylene chloride poisoning due to ingestion of home-distilled alcohol and potential new treatment with ethanol infusion.

PubMed

Vetro, Joseph; Koutsogiannis, Zeff; Jones, Daryl A; Canestra, Jane

2012-03-01

We describe a case of a 51-year-old man who ingested methylene chloride and presented with the classical clinical features. He developed an acute abdomen that required repeated laparotomy. The effect of an ethanol infusion on carboxyhaemoglobin concentrations in this case was also of interest and could potentially be a new treatment modality.

Sclerosing cholangitis and intracranial lymphoma in a child with classical Wiskott-Aldrich syndrome.

PubMed

Vignesh, Pandiarajan; Suri, Deepti; Rawat, Amit; Lau, Yu Lung; Bhatia, Anmol; Das, Ashim; Srinivasan, Anirudh; Dhandapani, Sivashanmugam

2017-01-01

Patients with Wiskott-Aldrich syndrome (WAS) are predisposed to malignancy and autoimmunity in addition to infections. We report a male child with WAS, who had presented with recurrent pneumonia, eczema, thrombocytopenia, autoimmune hemolytic anemia, and vasculitic skin lesions. Genetic analysis revealed a classical genotype WAS 155C>T; R41X. At 2 years of follow-up, he developed persistent headache and progressive hepatomegaly. Brain imaging showed a mass in the right frontal region, which on histopathology was shown to be high-grade non-Hodgkin lymphoma. Magnetic resonance cholangiopancreatography showed features of sclerosing cholangitis. This report extends the clinical spectrum and highlights unusual manifestations of sclerosing cholangitis and intracranial lymphoma in a patient with WAS. © 2016 Wiley Periodicals, Inc.

First detection, isolation and molecular characterization of infectious salmon anaemia virus associated with clinical disease in farmed Atlantic salmon (Salmo salar) in Chile

PubMed Central

Godoy, Marcos G; Aedo, Alejandra; Kibenge, Molly JT; Groman, David B; Yason, Carmencita V; Grothusen, Horts; Lisperguer, Angelica; Calbucura, Marlene; Avendaño, Fernando; Imilán, Marcelo; Jarpa, Miguel; Kibenge, Frederick SB

2008-01-01

Background Infectious salmon anaemia (ISA) is a viral disease of marine-farmed Atlantic salmon (Salmo salar) caused by ISA virus (ISAV), which belongs to the genus Isavirus, family Orthomyxoviridae. The virus is considered to be carried by marine wild fish and for over 25 years has caused major disease outbreaks in marine-farmed Atlantic salmon in the Northern hemisphere. In the Southern hemisphere, ISAV was first detected in Chile in 1999 in marine-farmed Coho salmon (Oncorhynchus kisutch). In contrast to the classical presentation of ISA in Atlantic salmon, the presence of ISAV in Chile until now has only been associated with a clinical condition called Icterus Syndrome in Coho salmon and virus isolation has not always been possible. During the winter of 2007, unexplained mortalities were registered in market-size Atlantic salmon in a grow-out site located in Chiloé in Region X of Chile. We report here the diagnostic findings of the first significant clinical outbreak of ISA in marine-farmed Atlantic salmon in Chile and the first characterization of the ISAV isolated from the affected fish. Results In mid-June 2007, an Atlantic salmon marine farm site located in central Chiloé Island in Region X of Chile registered a sudden increase in mortality following recovery from an outbreak of Pisciricketsiosis, which rose to a cumulative mortality of 13.6% by harvest time. Based on the clinical signs and lesions in the affected fish, and laboratory tests performed on the fish tissues, a confirmatory diagnosis of ISA was made; the first time ISA in its classical presentation and for the first time affecting farmed Atlantic salmon in Chile. Rapid sequencing of the virus-specific RT-PCR products amplified from the fish tissues identified the virus to belong to the European genotype (Genotype I) of the highly polymorphic region (HPR) group HPR 7b, but with an 11-amino acid insert in the fusion glycoprotein, and ability to cause cytopathic effects (CPE) in CHSE-214 cell line, characteristics which make it distinct from common European Genotype ISAV isolates from Europe and North America. Conclusion In conclusion, the present work constitutes the first report of a case of ISA in farmed Atlantic salmon in Chile. The clinical signs and lesions are consistent with the classical descriptions of the disease in marine-farmed Atlantic salmon in the Northern hemisphere. The outbreak was caused by ISAV of European genotype (or Genotype I) of HPR 7b but distinct from common European Genotype ISAV isolates. PMID:18680586

First detection, isolation and molecular characterization of infectious salmon anaemia virus associated with clinical disease in farmed Atlantic salmon (Salmo salar) in Chile.

PubMed

Godoy, Marcos G; Aedo, Alejandra; Kibenge, Molly J T; Groman, David B; Yason, Carmencita V; Grothusen, Horts; Lisperguer, Angelica; Calbucura, Marlene; Avendaño, Fernando; Imilán, Marcelo; Jarpa, Miguel; Kibenge, Frederick S B

2008-08-04

Infectious salmon anaemia (ISA) is a viral disease of marine-farmed Atlantic salmon (Salmo salar) caused by ISA virus (ISAV), which belongs to the genus Isavirus, family Orthomyxoviridae. The virus is considered to be carried by marine wild fish and for over 25 years has caused major disease outbreaks in marine-farmed Atlantic salmon in the Northern hemisphere. In the Southern hemisphere, ISAV was first detected in Chile in 1999 in marine-farmed Coho salmon (Oncorhynchus kisutch). In contrast to the classical presentation of ISA in Atlantic salmon, the presence of ISAV in Chile until now has only been associated with a clinical condition called Icterus Syndrome in Coho salmon and virus isolation has not always been possible. During the winter of 2007, unexplained mortalities were registered in market-size Atlantic salmon in a grow-out site located in Chiloé in Region X of Chile. We report here the diagnostic findings of the first significant clinical outbreak of ISA in marine-farmed Atlantic salmon in Chile and the first characterization of the ISAV isolated from the affected fish. In mid-June 2007, an Atlantic salmon marine farm site located in central Chiloé Island in Region X of Chile registered a sudden increase in mortality following recovery from an outbreak of Pisciricketsiosis, which rose to a cumulative mortality of 13.6% by harvest time. Based on the clinical signs and lesions in the affected fish, and laboratory tests performed on the fish tissues, a confirmatory diagnosis of ISA was made; the first time ISA in its classical presentation and for the first time affecting farmed Atlantic salmon in Chile. Rapid sequencing of the virus-specific RT-PCR products amplified from the fish tissues identified the virus to belong to the European genotype (Genotype I) of the highly polymorphic region (HPR) group HPR 7b, but with an 11-amino acid insert in the fusion glycoprotein, and ability to cause cytopathic effects (CPE) in CHSE-214 cell line, characteristics which make it distinct from common European Genotype ISAV isolates from Europe and North America. In conclusion, the present work constitutes the first report of a case of ISA in farmed Atlantic salmon in Chile. The clinical signs and lesions are consistent with the classical descriptions of the disease in marine-farmed Atlantic salmon in the Northern hemisphere. The outbreak was caused by ISAV of European genotype (or Genotype I) of HPR 7b but distinct from common European Genotype ISAV isolates.

TU-AB-207-03: Tomosynthesis: Clinical Applications

DOE Office of Scientific and Technical Information (OSTI.GOV)

Maidment, A.

2015-06-15

Digital Tomosynthesis (DT) is becoming increasingly common in breast imaging and many other applications. DT is a form of computed tomography in which a limited set of projection images are acquired over a small angular range and reconstructed into a tomographic data set. The angular range and number of projections is determined both by the imaging task and equipment manufacturer. For example, in breast imaging between 9 and 25 projections are acquired over a range of 15° to 60°. It is equally valid to treat DT as the digital analog of classical tomography - for example, linear tomography. In fact,more » the name “tomosynthesis” is an acronym for “synthetic tomography”. DT shares many common features with classical tomography, including the radiographic appearance, dose, and image quality considerations. As such, both the science and practical physics of DT systems is a hybrid between CT and classical tomographic methods. This lecture will consist of three presentations that will provide a complete overview of DT, including a review of the fundamentals of DT, a discussion of testing methods for DT systems, and a description of the clinical applications of DT. While digital breast tomosynthesis will be emphasized, analogies will be drawn to body imaging to illustrate and compare tomosynthesis methods. Learning Objectives: To understand the fundamental principles behind tomosynthesis, including the determinants of image quality and dose. To learn how to test the performance of tomosynthesis imaging systems. To appreciate the uses of tomosynthesis in the clinic and the future applications of tomosynthesis.« less

Cushing Syndrome in Carney Complex: Clinical, Pathologic, and Molecular Genetic Findings in the 17 Affected Mayo Clinic Patients.

PubMed

Lowe, Kathleen M; Young, William F; Lyssikatos, Charalampos; Stratakis, Constantine A; Carney, J Aidan

2017-02-01

Carney complex (CNC) is a rare dominantly inherited multiorgan tumoral disorder that includes Cushing syndrome (CS). To establish the Mayo Clinic experience with the CS component, including its clinical, laboratory, and pathologic findings, we performed a retrospective search of the patient and pathologic databases of Mayo Clinic in Rochester, MN, for patients with CNC and clinical or laboratory findings of CS. Thirty-seven patients with CNC were identified. Twenty-nine had clinical, pathologic, or laboratory evidence of an adrenocortical disorder. Seventeen had classic CS; 15 underwent bilateral, subtotal, or partial unilateral adrenalectomy, and 2 had no treatment. Pathologically, the glands were normal sized or slightly enlarged with multiple small (1 to 4 mm), brown, black, and yellow micronodules (primary pigmented nodular adrenocortical disease; PPNAD). Three glands each had a mass: a 2 cm adenoma, a 1.5 cm macronodule, and an unencapsulated 1.8 cm myelolipoma. Fourteen of the patients were alive at follow-up, and 3 were deceased; 2 of the latter had PPNAD at autopsy, and the third had PPNAD at surgery. Twelve patients without clinical features of classic CS had abnormal adrenocortical testing results; none developed classic CS during follow-up (mean, 10 y). Autopsy findings in 1 showed bilateral vacuolated cell cortical hyperplasia.

Athlete's foot and onychomycosis caused by Hendersonula toruloidea.

PubMed

Abramson, C

1990-08-01

Fungi other than the dermatophytes can cause infections of the foot, toes and toenails that simulate classic "athlete's foot." Unless diagnosed culturally and morphologically by the clinical laboratory, treatment failures may occur. The saprophyte Hendersonula toruloidea as well as other fungi and yeasts reported to cause such infections have been shown to be clinically indistinguishable from classic dermatophytic "athlete's foot." The clinical and laboratory diagnosis of these types of foot infections caused by Hendersonula toruloidea are described. Specific transport media required for laboratory diagnosis and therapeutic alternatives are reviewed.

Parinaud syndrome: a 25-year (1991-2016) review of 40 consecutive adult cases.

PubMed

Shields, Melissa; Sinkar, Swati; Chan, WengOnn; Crompton, John

2017-12-01

To characterize the clinical features, aetiology and management of ophthalmic symptoms in adult patients with Parinaud syndrome. This is a retrospective, non-comparative observational case series. We reviewed 40 consecutive charts of adult patients with the clinical diagnosis of Parinaud syndrome at the Royal Adelaide Hospital Department of Ophthalmology in Adelaide, South Australia, between 1991 and 2016. Charts were reviewed for the following: (1) demographic information, (2) clinical presentation, (3) neuro-ophthalmology signs, (4) aetiology of Parinaud syndrome, and (5) management. Examination findings were collected at initial evaluation, throughout the course of follow-up, and at last follow-up. All the cases were assessed by one of the authors (JLC). The commonest presenting symptoms were diplopia (67.5%) and blurred vision (25%) followed by visual field defect (12.5%), ataxia (7.5%) and manifest squint (7.5%). The commonest presenting signs were vertical gaze palsy (100%), convergence-retraction nystagmus (87.5%) and light-near dissociation (65.0%). Only 65.0% patients had the classical triad of vertical gaze palsy, convergence-retraction nystagmus and light-near dissociation. Midbrain pathologies including haemorrhage (30.0%), infarction (20.0%) and tumour (15.0%) were the commonest aetiology. Pineal region tumours accounted for 30.0% of presentations. Symptoms were managed conservatively in 45% of cases with temporary occlusion, prisms or refractive correction, and observation in 42.5% of cases. Surgical intervention for refractory diplopia was required in 12.5% of cases, of which 80% reported symptom resolution following surgery. Our series highlights the variable clinical presentation of Parinaud syndrome. The classic triad of conjugate upgaze paralysis, convergence-retraction nystagmus and light-near dissociation was only present in 65% of cases. Pineal neoplasms remain an important aetiological consideration; however, primary midbrain pathology including infarction and haemorrhage constituted the majority of our cases and should be considered in all patients. Conservative management approaches for ocular symptoms are sufficient in most cases although surgical treatment of upgaze palsy can be a useful option in refractory cases. © 2016 Acta Ophthalmologica Scandinavica Foundation. Published by John Wiley & Sons Ltd.

Changes in Presentation of Celiac Disease in Ireland From the 1960s to 2015.

PubMed

Dominguez Castro, Patricia; Harkin, Grace; Hussey, Mary; Christopher, Brian; Kiat, Clifford; Liong Chin, Jun; Trimble, Valerie; McNamara, Deirdre; MacMathuna, Padraic; Egan, Brian; Ryan, Barbara; Kevans, David; Farrell, Richard; Byrnes, Valerie; Mahmud, Nasir; McManus, Ross

2017-06-01

Celiac disease is an immune-mediated enteropathy characterized with high heterogeneity in presentation among genetically predisposed individuals. In recent years, a change in the phenotypic presentation of celiac disease has been reported. We studied clinical presentation, from 1960 through 2015, in Ireland, which has a high incidence of celiac disease. We performed a retrospective analysis of medical charts from patients diagnosed with celiac disease at 5 secondary referral centers in Ireland from 1960 through 2015 (n = 749; median age, 56 years; age range, 18-91 years). The cohort was divided into 5 groups based on year of diagnosis (≤1985, 1986-1995, 1996-2005, 2006-2010, or 2011 and later). We collected findings from clinical presentation at diagnosis; serology tests; small intestinal biopsy analyses; and patients' demographic, clinical, and family data. Presentations at diagnosis were classified according to the Oslo criteria as follows: classical (patients presenting with malabsorption), nonclassical (no signs or symptoms of malabsorption at presentation), or subclinical (below the threshold of clinical detection). The primary outcome was change in clinical presentation of celiac disease over time. Of the 749 patients studied, 512 were female and 237 were male (ratio of 2.2:1). Female patients were diagnosed at younger ages than male patients (42 vs 47 years, respectively; P = .004), and had more immune-mediated conditions than male patients (35.7% for female patients vs 21.5% for male patients; P < .001). For patients diagnosed as adults (after the age of 18 years), the median age of diagnosis increased from 34.0 years during the period ≤1985 to median ages of 44-46 years after 1985 (P < .002). A smaller proportion of patients presented with classical features of celiac disease after 2010 (48.4%) than ≤1985 (85.2%); the proportion of patients with nonclassical or subclinical celiac disease increased from 14.8% ≤1985 to 51.6% after 2010 (P = .006 for each). Biopsies categorized as Marsh 3c decreased, from 52.2% in the period 1996-2005 to 22.5% in the period after 2010 (P = .003). The prevalence of associated thyroid disease has decreased during the study period, from 36.6% ≤1985 to 17.1% after 2010 (P = .039), whereas body mass index at diagnosis increased from 21.5 kg/m 2 ≤1985 to 24.8 kg/m 2 after 2010 (P < .001). We found the clinical presentation of celiac disease changed significantly in Ireland from 1960 through 2015. The age of presentation in adulthood increased over this time period, as did the proportions of patients with nonclassical or subclinical disease. Copyright © 2017 AGA Institute. Published by Elsevier Inc. All rights reserved.

The genetics of Hodgkin lymphoma: an overview and clinical implications.

PubMed

Borchmann, Sven; Engert, Andreas

2017-09-01

The goal of this review is to give an overview of the genetics of classical Hodgkin lymphoma. Copy number changes, somatic mutations, genome-wide association studies, changes in gene expression, familial classical Hodgkin lymphoma and epigenetic changes will be reviewed. In doing so, special focus is placed on the way recent discoveries have influenced clinical research, diagnostics, treatment and remission monitoring. Furthermore, emphasis is put on how these advances can help to advance the treatment of elderly patients who have a markedly worse prognosis than younger patients. Frequent amplifications of the 9p24.1 locus in classical Hodgkin lymphoma could be the basis for the success of immune checkpoint inhibitors targeting PD-1 or PD-L1 in this disease. The same amplification also affects the JAK/STAT pathway, which has also been targeted in recent clinical trials. Hodgkin lymphoma-specific copy number alterations and mutations have recently been found to be detectable in cell-free DNA. This could provide the basis for advances in the detection of residual disease during treatment and while monitoring patients in remission. The advent of new technologies such as massive parallel sequencing has improved our understanding of the genetics of classical Hodgkin lymphoma. Some of these discoveries are now being translated into clinical research in the form of new diagnostics and treatments.

Methamphetamine use can mimic testicular torsion.

PubMed

Doherty, Michael H; Gerscovich, Eugenio O; Corwin, Michael T; Wilkendorf, Stephen R

2013-09-01

We report the case of a patient presenting with the classic clinical appearance of testicular torsion. Ultrasound showed testicular ischemia supporting the clinical diagnosis, but the lack of visualization of spermatic cord torsion was of concern. An attempt of clinical detorsion was considered unsuccessful and the patient was explored. No torsion was found. On postoperative review of the patient's medical history, we found methamphetamine use, with a positive urine test at the time of his emergent consultation for the scrotal pain episode. The use of amphetamines has been previously reported as the cause of ischemia of multiple organs, but we could not find previous reports of involvement of the testis mimicking torsion. Copyright © 2013 Wiley Periodicals, Inc.

Arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome: from molecular genetics to clinical features.

PubMed

Zhou, Yaoyao; Zhang, Junfeng

2014-09-20

Arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome is a rare but fatal autosomal recessive multisystem disorder caused by mutations in the VPS33B or VIPAR gene. The classical presentation of ARC includes congenital joint contractures, renal tubular dysfunction, and cholestasis. Additional features include ichthyosis, central nervous system malformation, platelet anomalies, and severe failure to thrive. Diagnosis of ARC syndrome relies on clinical features, organ biopsy, and mutational analysis. However, no specific treatment currently exists for this syndrome. This is an overview of the latest knowledge regarding the genetic features and clinical manifestations of ARC syndrome. Greater awareness and understanding of this syndrome should allow more timely intervention with potential for improving long-term outcome.

Unilateral RS3PE in a Patient of Seronegative Rheumatoid Arthritis

PubMed Central

Varshney, Ankur Nandan; Kumar, Nilesh; Tiwari, Ashutosh; Anand, Ravi; Prasad, Sashi Ranjan; Anand, Arvind; Mishra, Abhinandan; Singh, N. K.

2013-01-01

Remitting seronegative symmetrical synovitis with pitting edema (RS3PE) is a rare but well-reported clinical entity. It is classically described as symmetrical involvement of both upper extremities. Asymmetrical involvement had also been reported, but unilateral presentation is very rare. We hereby report a case of unilateral RS3PE in a patient of seronegative rheumatoid arthritis which was initially misdiagnosed as cellulitis and was given high dose antibiotics without any significant improvement. Later a rheumatologic consultation leads to a prompt diagnosis, and treatment with steroids leads to dramatic reversal of symptoms. This case demonstrates the rare presentation of this rare clinical entity and highlights the necessity of awareness regarding unilateral disease to clinicians. PMID:23662237

[Lymphogranuloma venereum. An old disease in a new dress].

PubMed

de Roche, M; Sawatzki, M; Degen, L; Itin, P; Flückiger, U; Frei, R; Goldenberger, D

2011-05-01

Lymphogranuloma venereum is a sexually transmitted disease caused by Chlamydia trachomatis, serotypes L1, L2 and L3. The classical clinical manifestation is a painful inguinal lymphadenopathy, resulting without treatment in severe complications. Over the last years, however, the emergence of massive ulcerative proctitis has been observed, especially in men who have sex with men. Because the clinical symptoms are unspecific, Chlamydia trachomatis should actively be looked for. Reliable and rapid molecular tests have now been established to diagnose lymphogranuloma venereum. The therapeutic recommendation is tetracycline for 3 weeks. We present 5 cases to illustrate this disease.

Organophosphate poisoning in Rhodesia. A study of the clinical features and management of 105 patients.

PubMed

Hayes, M M; van der Westhuizen, N G; Gelfand, M

1978-08-05

A series of 105 patients with organophosphate poisoning admitted to Harari Hospital during the past 4 years is described. Poisoning with organophosphate compounds is being seen more frequently in hospital practice in Rhodesia. Many of the cases are attempted suicides, but frequently there is no positive history of contact with the poison. The majority of patients exhibit the classic clinical features of parasympathetic overactivity, but diagnosis may be obscured by atypical presentation. Rapid diagnosis and utilization of the treatment regimen outlined in this article should reduce the mortality to less than 15%.

Is there still a role for the classical Cox-Maze III?

PubMed

Yap, Cheng-Hon; Prior, David; Kenny, James; Zimmet, Adam; Chao, Victor; Mooney, Donald; Yii, Michael

2006-05-01

The incidence of surgery for atrial fibrillation (AF) is rising, paralleled by an increase in the types of lesion sets and energy sources used. These alternate energy sources have simplified the surgery at the expense of increased cost of consumables. The classical Cox-Maze III is the gold standard therapy with a proven efficacy in curing AF. Our complete experience with this procedure is presented. All 28 patients undergoing the classical Cox-Maze III procedure at our institution underwent preoperative assessment and were followed prospectively. Twenty-eight patients underwent the Cox-Maze III procedure between January 2001 and May 2003. Their mean age was 65 years (range, 44-80 years). Twenty-five patients had concomitant cardiac procedures. Mean duration of AF was 8.3 years. Permanent AF was present in 82%. Mean follow-up time was 15 +/- 8 months (range, 4-30 months). There were no perioperative or late deaths, or thromboembolic events. Sixty-one per cent had early (<3 months) atrial arrhythmia. Freedom from AF at most recent clinical follow up was 93%. Freedom from late atrial arrhythmia was 82%. Freedom from late AF or atrial flutter by pacemaker interrogation or Holter assessment was 77%. Anti-arrhythmic medication use was reduced. New York Heart Association class improved from an average of 2.8 preoperatively to 1.3 postoperatively. The result of the present study shows the safety and efficacy of the classical Cox-Maze III procedure. With the advantage of proven long-term efficacy, demonstrable safety and avoidance of costly technology, the Cox-Maze III should not be discounted as a treatment option in patients because of its perceived complexity.

Primary Sjogren's syndrome with central nervous system involvement.

PubMed

Alhomoud, Iftetah A; Bohlega, Saeed A; Alkawi, Mohammed Z; Alsemari, Abdulaziz M; Omer, Saleh M; Alsenani, Fahmi M

2009-08-01

To describe the clinical, laboratory, and radiological features of Primary Sjogren's syndrome (PSS) with central nervous system (CNS) involvement. A retrospective case series of 12 female patients with PSS and CNS involvement at King Faisal Specialist Hospital and Research Center, Riyadh, Kingdom of Saudi Arabia from 1991-2009. The diagnosis of PSS is defined by the American-European Diagnostic Criteria. We analyzed the clinical, radiological, and immunological features. The mean age was 40 years (range 16-58 years); all patient were females and presented with active neurological symptoms. The neurological involvement preceded the classic sicca symptoms (33%). Eight patients (66%) presented with myelopathy, 9 patients (75%) had optic neuritis, and the rest had variable neurological signs. Immunological tests (anti-Sjogren's syndrome A and anti-Sjogren's syndrome B) were high in 7 patients (58%). Minor salivary gland biopsy revealed inflammatory cell infiltrate in 11 patients (92%). Brain MRI showed scattered white matter changes in 7 patients (58%). Spine MRI showed multiple foci of hyperintensity in T2-weighted image in 6 patients (50%), and long segment of hyperintensity at the cervical spinal cord in 2 patients (16%). Our findings demonstrate that CNS involvements in PSS have great clinical variability and could precede the classic sicca symptoms by years. Primary Sjogren's syndrome can mimic multiple sclerosis (primary progressive multiple sclerosis or relapsing remitting multiple sclerosis), therefore a screening test for PSS should be considered in suspected cases. A well-defined management protocol awaits studies with larger case numbers.

The management of dermatomyositis: current treatment options.

PubMed

Sontheimer, Richard D

2004-05-01

Dermatomyositis is traditionally classified as one of the idiopathic inflammatory myopathies. The traditional approach to the management of patients with dermatomyositis focuses predominantly on end points related to the systemic manifestations of this disorder, especially proximal muscle weakness resulting from myositis. However, the primary and secondary skin changes that are characteristic of dermatomyositis can, in themselves, produce significant morbidity and disability. This article presents a dermatological perspective on the management of dermatomyositis. As dermatological management approaches can vary between countries, an effort has been made to present a consensus dermatological view concerning this subject. A US dermatologist is most likely to see patients having dermatomyositis skin lesions in the following four clinical settings: soon after the onset of dermatomyositis skin disease activity before the appearance of clinically-evident muscle disease (i.e., 'pre-myopathic' dermatomyositis); during the course of clinically-amyopathic dermatomyositis; during co-management of classical dermatomyositis with other physicians; and for recrudescent skin disease activity in classical dermatomyositis patients after their symptomatic muscle inflammation has been fully suppressed by systematic immunosuppressive/immunomodulatory treatment (i.e., 'postmyopathic' dermatomyositis). Both topical and systemic therapies for dermatomyositis skin lesions encountered in these various settings will be discussed. In addition to specific approaches to the treatment of dermatomyositis skin lesions, broader management issues that dermatologists must be aware of when caring for dermatomyositis patients are included in this discussion (e.g., patient education, risk of associated systemic disease, such as myositis and interstitial lung disease, risk for occult malignancy, and prognosis counselling).

Ocular myasthenia gravis: A review

PubMed Central

Nair, Akshay Gopinathan; Patil-Chhablani, Preeti; Venkatramani, Devendra V; Gandhi, Rashmin Anilkumar

2014-01-01

Myasthenia gravis (MG) is a disease that affects the neuro-muscular junction resulting in classical symptoms of variable muscle weakness and fatigability. It is called the great masquerader owing to its varied clinical presentations. Very often, a patient of MG may present to the ophthalmologist given that a large proportion of patients with systemic myasthenia have ocular involvement either at presentation or during the later course of the disease. The treatment of ocular MG involves both the neurologist and ophthalmologist. Thus, the aim of this review was to highlight the current diagnosis, investigations, and treatment of ocular MG. PMID:25449931

[Research and development strategies in classical herbal formulae].

PubMed

Chen, Chang; Cheng, Jin-Tang; Liu, An

2017-05-01

As an outstanding representative of traditional Chinese medicine prescription, classical herbal formulae are the essence of traditional Chinese medicine great treasure. To support the development of classical herbal formulae, the state and relevant administrative departments have successively promulgated the relevant encouraged policies.But some key issues of classic herbal formulae in the development process have not reached a unified consensus and standard, and these problems were discussed in depth here.The authors discussed the registration requirements of classical herbal formulae, proposed the screening specific indicators of classical herbal formulae, determination basis of prescription and dosage,screening method of production process, and the basic principle of clinical localization, in order to bring out valuable opinions and provide a reference for classical herbal formulae development and policy formulation. Copyright© by the Chinese Pharmaceutical Association.

Clinical and oral findings in an Afro-Brazilian family with Gorlin-Goltz syndrome: case series and literature review.

PubMed

da Silva Pierro, Viviane Santos; Marins, Marcello Roter; Borges de Oliveira, Renata Cabral; Cortezzi, Wladimir; Janini, Maria Elisa; Maia, Lucianne Cople

2015-01-01

Gorlin-Goltz syndrome (GGS) seems to be unusual in black persons. The authors present an Afro-Brazilian family case report of GGS. The main complaint of the index case was a painless swelling of the left mandible, which was diagnosed as an odontogenic keratocyst. Further classical features of the Syndrome were present in this patient. Other two family members were diagnosed as cases of GGS and one of them presented 11 clinical findings characteristic of the syndrome. From the three cases reported, two of them presented five major diagnostic criteria for the GGS, and the diagnosis was only made because of an oral complaint. This case series emphasizes the importance of carefully examining the patient and close relatives for signs of GGS, even if they belong to an ethnic group in which this diagnosis is unusual. © 2014 Special Care Dentistry Association and Wiley Periodicals, Inc.

Diffuse Lewy body disease: clinical features in 15 cases.

PubMed Central

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

1989-01-01

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 PMID:2545827

Traditional Chinese Medicine as a Basis for Treating Psychiatric Disorders: A Review of Theory with Illustrative Cases

PubMed Central

Aung, Steven K.H.; Fay, Heather

2013-01-01

Abstract Background: Integrative medicine is becoming increasingly accepted in the global scheme of health care. Traditional Chinese Medicine (TCM) is often included among integrative medicine modalities. Objective: This article provides a background for integration of acupuncture and other TCM-derived approaches to managing psychiatric conditions. Methods: Classical theories of TCM that pertain to psychiatric conditions are reviewed, focusing on concepts of energetic imbalance, the implications of mind–body–spirit connections, and treatment strategies that involve TCM modalities. An example of correlation between TCM patterns of disharmony and the Western diagnosis of generalized anxiety disorder (GAD) is given, along with an illustrative case in which counseling, medications, and acupuncture were combined in treatment. TCM principles are incorporated in certain energy psychology modalities, such as Emotional Freedom Technique (EFT). A case is presented demonstrating the integration of energy psychology with acupuncture, Qigong and hypnosis as an avenue for releasing pathogenic emotions. In classical TCM theory, assessing and treating spiritual disharmonies is fundamental for dealing with emotional disorders. Practical application in a clinical case is described. Conclusions: TCM offers a cogent theoretical basis for assessing and clinically managing patients presenting with mental health issues. TCM principles integrate well with other systems, including Western medicine. PMID:24761185

Ptosis, extraocular motility disorder, and myopia as features of pompe disease.

PubMed

Slingerland, Niki W R; Polling, Jan Roelof; van Gelder, Catharina M; van der Ploeg, Ans T; Bleyen, Isabel

2011-03-01

The assets of this report are a thorough description of new clinical findings, namely the combination of ptosis, extraocular motility disorder and myopia, in consequence of prolonged survival in classic infantile-onset Pompe disease through enzyme therapy. Single case description. This manuscript describes a combination of ptosis, extraocular motility disorder and myopia in a 4.5-year-old patient with classic infantile-onset Pompe disease, who survived through enzyme therapy. This patient was treated with a bilateral frontalis suspension (modified Crawford technique) using prolene 3-0 sutures. The combination of ptosis, extraocular motility disorder and myopia, is a new clinical finding in children with classic infantile-onset Pompe disease.

‘Bobo-Newton syndrome’: An unwanted gift from man’s best friend

PubMed Central

Popiel, Kristin Y; Vinh, Donald C

2013-01-01

Capnocytophaga canimorsus is a facultative Gram-negative bacillus that is typically a constituent of the oral flora of dogs and cats. It was first isolated by Bobo and Newton in 1976 from a man presenting with meningitis following a dog bite. Transmission to humans follows various animal-related injuries, which may be gross or subtle. C canimorsus can cause a spectrum of syndromes ranging from skin and soft tissue infection to invasive disease such as meningitis or endocarditis. The present article reports a case of C canimorsus meningitis in a patient with the classic risk factor of alcoholic liver cirrhosis. Clinical suspicion was confirmed by culture and genetic identification of the blood isolate. The present article reviews the Capnocytophaga genus, the clinical syndromes most commonly associated with this zoonotic organism, its laboratory identification and treatment. PMID:24489563

Acute Motor Axonal Neuropathy in a Child With Atypical Presentation

PubMed Central

Lee, Kyung Soo; Han, Seung Hoon

2015-01-01

Abstract Acute motor axonal neuropathy (AMAN) is a variant of Guillain–Barre syndrome. It has been reported to have no sensory symptoms and is diagnosed by typical electrophysiological findings of low-amplitude or unobtainable compound muscle action potentials with normal sensory nerve action potentials. However, the authors experienced atypical case of general electrophysiological findings of AMAN with pain and paresthesia and presented it. This case implies that clinician should be on the alert to atypical sensory symptoms from the classical presentation of AMAN even if the patient is diagnosed with AMAN electrophysiologically and should consider proper treatment options based on clinical presentations. PMID:25621680

Redefined clinical features and diagnostic criteria in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy

PubMed Central

Ferre, Elise M.N.; Rose, Stacey R.; Rosenzweig, Sergio D.; Burbelo, Peter D.; Romito, Kimberly R.; Niemela, Julie E.; Rosen, Lindsey B.; Break, Timothy J.; Gu, Wenjuan; Hunsberger, Sally; Browne, Sarah K.; Hsu, Amy P.; Rampertaap, Shakuntala; Swamydas, Muthulekha; Collar, Amanda L.; Kong, Heidi H.; Chascsa, David; Simcox, Thomas; Pham, Angela; Bondici, Anamaria; Natarajan, Mukil; Monsale, Joseph; Kleiner, David E.; Quezado, Martha; Alevizos, Ilias; Moutsopoulos, Niki M.; Yockey, Lynne; Frein, Cathleen; Soldatos, Ariane; Calvo, Katherine R.; Adjemian, Jennifer; Similuk, Morgan N.; Lang, David M.; Stone, Kelly D.; Uzel, Gulbu; Bishop, Rachel J.; Holland, Steven M.; Olivier, Kenneth N.; Fleisher, Thomas A.; Heller, Theo; Winer, Karen K.

2016-01-01

Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) is a rare primary immunodeficiency disorder typically caused by homozygous AIRE mutations. It classically presents with chronic mucocutaneous candidiasis and autoimmunity that primarily targets endocrine tissues; hypoparathyroidism and adrenal insufficiency are most common. Developing any two of these classic triad manifestations establishes the diagnosis. Although widely recognized in Europe, where nonendocrine autoimmune manifestations are uncommon, APECED is less defined in patients from the Western Hemisphere. We enrolled 35 consecutive American APECED patients (33 from the US) in a prospective observational natural history study and systematically examined their genetic, clinical, autoantibody, and immunological characteristics. Most patients were compound heterozygous; the most common AIRE mutation was c.967_979del13. All but one patient had anti–IFN-ω autoantibodies, including 4 of 5 patients without biallelic AIRE mutations. Urticarial eruption, hepatitis, gastritis, intestinal dysfunction, pneumonitis, and Sjögren’s-like syndrome, uncommon entities in European APECED cohorts, affected 40%–80% of American cases. Development of a classic diagnostic dyad was delayed at mean 7.38 years. Eighty percent of patients developed a median of 3 non-triad manifestations before a diagnostic dyad. Only 20% of patients had their first two manifestations among the classic triad. Urticarial eruption, intestinal dysfunction, and enamel hypoplasia were prominent among early manifestations. Patients exhibited expanded peripheral CD4+ T cells and CD21loCD38lo B lymphocytes. In summary, American APECED patients develop a diverse syndrome, with dramatic enrichment in organ-specific nonendocrine manifestations starting early in life, compared with European patients. Incorporation of these new manifestations into American diagnostic criteria would accelerate diagnosis by approximately 4 years and potentially prevent life-threatening endocrine complications. PMID:27588307

Electrocardiogram voltage discordance: Interpretation of low QRS voltage only in the precordial leads.

PubMed

Kim, Diana H; Verdino, Ralph J

To define clinical correlates of low voltage isolated to precordial leads on the surface electrocardiogram (ECG). Low voltage (V) on the ECG is defined as QRS V<5mm in all limb leads and <10mm in all precordial leads. The diagnostic use of ECGs with low voltage isolated to the precordial leads with normal limb lead voltages is unclear. Twelve-lead ECGs with QRS V>5mm in one or more limb leads and <10mm in all precordial leads were collected. Associated clinical conditions were determined from clinical data, echocardiograms, and chest radiographs. Low precordial voltage was found in 256 of 150,000 ECGs (~0.2%). 50.4% of patients had discordant ECGs that correlated with classic etiologies, with a higher incidence of LV dilation in those with classic etiologies than those without. Low precordial voltage is associated with classic etiologies and LV dilation. Copyright © 2017 Elsevier Inc. All rights reserved.

Citation classics in periodontology: a controlled study.

PubMed

Nieri, Michele; Saletta, Daniele; Guidi, Luisa; Buti, Jacopo; Franceschi, Debora; Mauro, Saverio; Pini-Prato, Giovanpaolo

2007-04-01

The aims of this study were to identify the most cited articles in Periodontology published from January 1990 to March 2005; and to analyse the differences between citation Classics and less cited articles. The search was carried out in four international periodontal journals: Journal of Periodontology, Journal of Clinical Periodontology, International Journal of Periodontics and Restorative Dentistry and Journal of Periodontal Research. The Classics, that are articles cited at least 100 times, were identified using the Science Citation Index database. From every issue of the journals that contained a Classic, another article was randomly selected and used as a Control. Fifty-five Classics and 55 Controls were identified. Classic articles were longer, used more images, had more authors, and contained more self-references than Controls. Moreover Classics had on the average a bigger sample size, often dealt with etiopathogenesis and prognosis, but were rarely controlled or randomized studies. Classic articles play an instructive role, but are often non-Controlled studies.

[Multiple sclerosis associated with antiphospholipid syndrome: diagnostic and therapeutic difficulties].

PubMed

Ahbeddou, N; Ait Ben Haddou, E; Hammi, S; Slimani, C; Regragui, W; Benomar, A; Yahyaoui, M

2012-01-01

Strokes are the main neurological manifestation of antiphospholipid syndrome. Other clinical presentations are possible and may mimic classic symptoms of multiple sclerosis (MS). A 46-year-old woman, with a history of two miscarriages, presented four subacute neurological episodes (optic neuritis, right facial paralysis, paraparesis of the thigh, and right brachial monoparesis). Using McDonald criteria, the diagnosis of multiple sclerosis was retained. Because of the occurrence of thrombocytopenia during a final relapse, we reconsidered the diagnosis of MS. Search for antiphospholipid antibodies was positive. All clinical manifestations and complementary tests were compatible with the diagnosis of antiphospholipid syndrome associated with multiple sclerosis. Given the great similarity of clinical, radiological and biological findings in the two diseases, non-thrombotic neurological manifestations of antiphospholipid syndrome can be difficult to distinguish from MS associated with antiphospholipid syndrome. Copyright © 2011 Elsevier Masson SAS. All rights reserved.

Cutaneous sarcoidosis masquerading as chronic cutaneous lupus erythematosus - case report.

PubMed

Vatanchi, Marjon; Sobhani, Kaivon; Fisher, Valerie T; Meffert, Jeffrey J

2016-09-20

Sarcoidosis is a multisystemic granulomatous disease of unknown origin. Chronic cutaneous lupus erythematosus (CCLE) is an autoimmune disease that is associated with autoantibody production and T-cell dysfunction. Cutaneous manifestations of sarcoidosis may mimic CCLE and vice versa making it difficult to reach a diagnosis clinically. We present a case of a 57-year-old woman with long-standing sarcoidosis who presented to clinic with diffuse painful plaques that were very distinct and suggestive of CCLE. She had a family history of both sarcoidosis and CCLE. The patient was immediately started on topical corticosteroids and oral hydroxychloroquine. Skin biopsy and the absence of direct immunofluorescence confirmed a skin manifestation of her previously diagnosed sarcoidosis, despite the clinical morphology favoring classic CCLE. Sarcoidosis may have diverse manifestations and may mimic other disease processes. A detailed history along with a low threshold for biopsy is important for determining a diagnosis.

Management of epilepsy in patients with Rett syndrome: perspectives and considerations.

PubMed

Krajnc, Natalija

2015-01-01

Rett syndrome (RTT) is a common neurodevelopmental disorder that appears in infancy with regression of acquired motor skills, loss of purposeful activity, hand stereotypies, loss of acquired spoken language, and seizures. Epilepsy affects the majority of patients in a specific clinical stage of the disease and is drug resistant in approximately one-third of cases. The association of epilepsy and even drug-resistant epilepsy has been reported in certain genotypes of the methyl-CpG-binding protein 2 mutation, which is present in a majority of patients with classical RTT. The evolution of electroencephalographic abnormalities accompanying the clinical development of the syndrome is well described, but much less is known about the seizure semiology and the effectiveness of specific antiepileptic drugs. The aim of this review is to present the clinical and electrophysiological aspects of epilepsy in RTT and the current treatment approach.

Endpoints and cutpoints in head and neck oncology trials: methodical background, challenges, current practice and perspectives.

PubMed

Hezel, Marcus; von Usslar, Kathrin; Kurzweg, Thiemo; Lörincz, Balazs B; Knecht, Rainald

2016-04-01

This article reviews the methodical and statistical basics of designing a trial, with a special focus on the process of defining and choosing endpoints and cutpoints as the foundations of clinical research, and ultimately that of evidence-based medicine. There has been a significant progress in the treatment of head and neck cancer in the past few decades. Currently available treatment options can have a variety of different goals, depending e.g. on tumor stage, among other factors. The outcome of a specific treatment in clinical trials is measured using endpoints. Besides classical endpoints, such as overall survival or organ preservation, other endpoints like quality of life are becoming increasingly important in designing and conducting a trial. The present work is based on electronic research and focuses on the solid methodical and statistical basics of a clinical trial, on the structure of study designs and on the presentation of various endpoints.

Is undifferentiated spondyloarthritis a discrete entity? A debate.

PubMed

Deodhar, Atul; Miossec, Pierre; Baraliakos, Xenofon

2018-01-01

The concept of undifferentiated spondyloarthritis has been introduced recently to describe a clinical setting where the classical features of spondyloarthritis (SpA) are not fully present. Whether this is a discrete entity was the basis of a debate during the 4th International Congress on Controversies in Rheumatology & Autoimmunity held in Bologna, Italy 9-11 March 2017. The pro and con aspects of the debate are presented. The implications of the debate are important ranging from diagnostic aspects to consequences for the society and the payers. Copyright © 2017 Elsevier B.V. All rights reserved.

Infiltrating Ductal Carcinoma Co-Existing with Intraductal Papillary Carcinoma of Male Breast: A Rare Case Report.

PubMed

Kumar, Mayank; Pottipati, Bhaswanth; Arakeri, Surekha U; Javalgi, Anita P

2017-06-01

Male breast carcinomas are rare tumours, accounting for less than 1% of all malignancies in men. Intracystic Papillary Carcinoma (IPC) in males is a very rare entity, representing 5-7.5% of all male breast carcinomas. It lacks the classical clinical, radiological and cytological features of malignancy and usually presents as a benign-appearing lump. We report a case of Infiltrating Ductal Carcinoma (IDC) co-existing with intracystic papillary carcinoma in a 53-year-old male who presented with lump in the right breast.

Infiltrating Ductal Carcinoma Co-Existing with Intraductal Papillary Carcinoma of Male Breast: A Rare Case Report

PubMed Central

Pottipati, Bhaswanth; Arakeri, Surekha U.; Javalgi, Anita P.

2017-01-01

Male breast carcinomas are rare tumours, accounting for less than 1% of all malignancies in men. Intracystic Papillary Carcinoma (IPC) in males is a very rare entity, representing 5-7.5% of all male breast carcinomas. It lacks the classical clinical, radiological and cytological features of malignancy and usually presents as a benign-appearing lump. We report a case of Infiltrating Ductal Carcinoma (IDC) co-existing with intracystic papillary carcinoma in a 53-year-old male who presented with lump in the right breast. PMID:28764176

Eosinophilic fasciitis associated with hypereosinophilia, abnormal bone-marrow karyotype and inversion of chromosome 5.

PubMed

Ferguson, J S; Bosworth, J; Min, T; Mercieca, J; Holden, C A

2014-03-01

We report the case of a male patient presenting with eosinophilia, pulmonary oedema and eosinophilic fasciitis (EF). He had the classic clinical appearance and magnetic resonance imaging of EF. Cytogenetic analysis of the bone marrow revealed a previously undescribed pericentric inversion of chromosome 5. Overall, the presentation was consistent with a diagnosis of chronic eosinophilic leukaemia, not otherwise specified (CEL-NOS). Dermatologists should consult a haematologist in cases of EF, in order to rule out possible haematological malignancies. © 2013 British Association of Dermatologists.

[Asymptomatic classical hereditary xanthinuria type 1].

PubMed

Yakubov, Renata; Nir, Vered; Kassem, Eiass; Klein-Kremer, Adi

2012-06-01

We report on a girl who was diagnosed with classical hereditary xanthinuria due to an incidental finding of extremely low Levels of uric acid in the blood. The girl is compLetely asymptomatic. Hereditary xanthinuria is a rare autosomal recessive disease that usually causes early urolithiasis but may cause rheumatoid arthritis-like disease and even be associated with defects in the formation of bone, hair and teeth. In Israel it has mostly been described in patients of Bedouin origin. Throughout the world, only about 150 cases have been described; about two thirds of these patients were asymptomatic. Since the clinical presentation and age of symptom appearance are diverse, the case raises questions as to the required follow-up of these patients and as to whether a low oxalate diet should be initiated.

Are Randomized Controlled Trials the (G)old Standard? From Clinical Intelligence to Prescriptive Analytics.

PubMed

Van Poucke, Sven; Thomeer, Michiel; Heath, John; Vukicevic, Milan

2016-07-06

Despite the accelerating pace of scientific discovery, the current clinical research enterprise does not sufficiently address pressing clinical questions. Given the constraints on clinical trials, for a majority of clinical questions, the only relevant data available to aid in decision making are based on observation and experience. Our purpose here is 3-fold. First, we describe the classic context of medical research guided by Poppers' scientific epistemology of "falsificationism." Second, we discuss challenges and shortcomings of randomized controlled trials and present the potential of observational studies based on big data. Third, we cover several obstacles related to the use of observational (retrospective) data in clinical studies. We conclude that randomized controlled trials are not at risk for extinction, but innovations in statistics, machine learning, and big data analytics may generate a completely new ecosystem for exploration and validation.

Are Randomized Controlled Trials the (G)old Standard? From Clinical Intelligence to Prescriptive Analytics

PubMed Central

2016-01-01

Despite the accelerating pace of scientific discovery, the current clinical research enterprise does not sufficiently address pressing clinical questions. Given the constraints on clinical trials, for a majority of clinical questions, the only relevant data available to aid in decision making are based on observation and experience. Our purpose here is 3-fold. First, we describe the classic context of medical research guided by Poppers’ scientific epistemology of “falsificationism.” Second, we discuss challenges and shortcomings of randomized controlled trials and present the potential of observational studies based on big data. Third, we cover several obstacles related to the use of observational (retrospective) data in clinical studies. We conclude that randomized controlled trials are not at risk for extinction, but innovations in statistics, machine learning, and big data analytics may generate a completely new ecosystem for exploration and validation. PMID:27383622

The variable presentations of glycogen storage disease type IV: a review of clinical, enzymatic and molecular studies.

PubMed

Moses, Shimon W; Parvari, Ruti

2002-03-01

Glycogen storage disease type IV (GSD-IV), also known as Andersen disease or amylopectinosis (MIM 23250), is a rare autosomal recessive disorder caused by a deficiency of glycogen branching enzyme (GBE) leading to the accumulation of amylopectin-like structures in affected tissues. The disease is extremely heterogeneous in terms of tissue involvement, age of onset and clinical manifestations. The human GBE cDNA is approximately 3-kb in length and encodes a 702-amino acid protein. The GBE amino acid sequence shows a high degree of conservation throughout species. The human GBE gene is located on chromosome 3p14 and consists of 16 exons spanning at least 118 kb of chromosomal DNA. Clinically the classic Andersen disease is a rapidly progressive disorder leading to terminal liver failure unless liver transplantation is performed. Several mutations have been reported in the GBE gene in patients with classic phenotype. Mutations in the GBE gene have also been identified in patients with the milder non-progressive hepatic form of the disease. Several other variants of GSD-IV have been reported: a variant with multi-system involvement including skeletal and cardiac muscle, nerve and liver; a juvenile polysaccharidosis with multi-system involvement but normal GBE activity; and the fatal neonatal neuromuscular form associated with a splice site mutation in the GBE gene. Other presentations include cardiomyopathy, arthrogryposis and even hydrops fetalis. Polyglucosan body disease, characterized by widespread upper and lower motor neuron lesions, can present with or without GBE deficiency indicating that different biochemical defects could result in an identical phenotype. It is evident that this disease exists in multiple forms with enzymatic and molecular heterogeneity unparalleled in the other types of glycogen storage diseases.

Autosomal-dominant GTPCH1-deficient DRD: clinical characteristics and long-term outcome of 34 patients.

PubMed

Trender-Gerhard, I; Sweeney, M G; Schwingenschuh, P; Mir, P; Edwards, M J; Gerhard, A; Polke, J M; Hanna, M G; Davis, M B; Wood, N W; Bhatia, K P

2009-08-01

An autosomal dominantly inherited defect in the GCH1 gene that encodes guanosine triphosphate cyclohydrolase 1 (GTPCH1) is the most common cause of dopa-responsive dystonia (DRD). A classic phenotype of young-onset lower-limb dystonia, diurnal fluctuations and excellent response to levodopa has been well recognised in association with GCH1 mutations, and rare atypical presentations have been reported. However, a number of clinical issues remain unresolved including phenotypic variability, long-term response to levodopa and associated non-motor symptoms, and there are limited data on long-term follow-up of genetically proven cases. A detailed clinical evaluation of 34 patients (19 women, 15 men), with confirmed mutations in the GCH1 gene, is presented. The classic phenotype was most frequent (n = 23), with female predominance (F:M = 16:7), and early onset (mean 4.5 years) with involvement of legs. However, a surprisingly large number of patients developed craniocervical dystonia, with spasmodic dysphonia being the predominant symptom in two subjects. A subset of patients, mainly men, presented with either a young-onset (mean 6.8 years) mild DRD variant not requiring treatment (n = 4), or with an adult-onset (mean 37 years) Parkinson disease-like phenotype (n = 4). Two siblings were severely affected with early hypotonia and delay in motor development, associated with compound heterozygous GCH1 gene mutations. The study also describes a number of supplementary features including restless-legs-like symptoms, influence of female sex hormones, predominance of tremor or parkinsonism in adult-onset cases, initial reverse reaction to levodopa, recurrent episodes of depressive disorder and specific levodopa-resistant symptoms (writer's cramp, dysphonia, truncal dystonia). Levodopa was used effectively and safely in 20 pregnancies, and did not cause any fetal abnormalities.

Pediatric nodal marginal zone lymphoma may develop in the adult population.

PubMed

Gitelson, Elena; Al-Saleem, Tahseen; Robu, Valentin; Millenson, Michael M; Smith, Mitchell R

2010-01-01

Pediatric nodal marginal zone lymphoma (NMZL) is described as a separate variant of NMZL in the most recent WHO classification of tumors of hematologic and lymphoid tissues. It has distinctive morphology and clinical presentation and stands out as an indolent disease with remarkably better overall prognosis compared to classic NMZL. Here we report two adult patients with NMZL with clinical and morphologic features consistent with pediatric NMZL (pNMZL) and review available literature describing the clinical and histologic presentation of pNMZL. Two men, ages 44 and 18 years, each presented with localized cervical lymphadenopathy, both demonstrated florid proliferation of the marginal zone and disruption of reactive germinal centers, progressive transformation of germinal centers-like morphologic features typical for pNMZL and clonal disease with immunophenotype consistent with NMZL. This is the first report of pNMZL in a middle-aged person. Distinct histologic features and characteristic benign clinical course will help to distinguish this rare variant from other NMZL in the adults. Clinically, recognition is important to understand the true incidence of this rare form in the adult population and to avoid unnecessary overtreatment of this indolent form.

Cognitive impairment in a young marmoset reveals lateral ventriculomegaly and a mild hippocampal atrophy: a case report

PubMed Central

Sadoun, A.; Strelnikov, K.; Bonté, E.; Fonta, C.; Girard, P.

2015-01-01

The number of studies that use the common marmoset (Callithrix jacchus) in various fields of neurosciences is increasing dramatically. In general, animals enter the study when their health status is considered satisfactory on the basis of classical clinical investigations. In behavioral studies, variations of score between individuals are frequently observed, some of them being considered as poor performers or outliers. Experimenters rarely consider the fact that it could be related to some brain anomaly. This raises the important issue of the reliability of such classical behavioral approaches without using complementary imaging, especially in animals lacking striking external clinical signs. Here we report the case of a young marmoset which presented a set of cognitive impairments in two different tasks compared to other age-matched animals. Brain imaging revealed a patent right lateral ventricular enlargement with a mild hippocampal atrophy. This abnormality could explain the cognitive impairments of this animal. Such a case points to the importance of complementing behavioral studies by imaging explorations to avoid experimental bias. PMID:26527211

MRI Superresolution Using Self-Similarity and Image Priors

PubMed Central

Manjón, José V.; Coupé, Pierrick; Buades, Antonio; Collins, D. Louis; Robles, Montserrat

2010-01-01

In Magnetic Resonance Imaging typical clinical settings, both low- and high-resolution images of different types are routinarily acquired. In some cases, the acquired low-resolution images have to be upsampled to match with other high-resolution images for posterior analysis or postprocessing such as registration or multimodal segmentation. However, classical interpolation techniques are not able to recover the high-frequency information lost during the acquisition process. In the present paper, a new superresolution method is proposed to reconstruct high-resolution images from the low-resolution ones using information from coplanar high resolution images acquired of the same subject. Furthermore, the reconstruction process is constrained to be physically plausible with the MR acquisition model that allows a meaningful interpretation of the results. Experiments on synthetic and real data are supplied to show the effectiveness of the proposed approach. A comparison with classical state-of-the-art interpolation techniques is presented to demonstrate the improved performance of the proposed methodology. PMID:21197094

Predicting fear of heights, snakes, and public speaking from multimodal classical conditioning events.

PubMed

Wu, Ning Ying; Conger, Anthony J; Dygdon, Judith A

2006-04-01

Two hundred fifty one men and women participated in a study of the prediction of fear of heights, snakes, and public speaking by providing retrospective accounts of multimodal classical conditioning events involving those stimuli. The fears selected for study represent those believed by some to be innate (i.e., heights), prepared (i.e., snakes), and purely experientially learned (i.e., public speaking). This study evaluated the extent to which classical conditioning experiences in direct, observational, and verbal modes contributed to the prediction of the current level of fear severity. Subjects were asked to describe their current level of fear and to estimate their experience with fear response-augmenting events (first- and higher-order aversive pairings) and fear response-moderating events (first- and higher-order appetitive pairings, and pre- and post-conditioning neutral presentations) in direct, observational, and verbal modes. For each stimulus, fear was predictable from direct response-augmenting events and prediction was enhanced by the inclusion of response-moderating events. Furthermore, for each fear, maximum prediction was attained by the addition of variables tapping experiences in the observational and/or verbal modes. Conclusions are offered regarding the importance of including response-augmenting and response-moderating events in all three modes in both research and clinical applications of classical conditioning.

Current situation and perspectives of clinical study in integrative medicine in china.

PubMed

Wang, Jie; Xiong, Xingjiang

2012-01-01

Integrative medicine is not only an innovative China model in clinical practice, but also the bridge for TCM toward the world. In the past thirty years, great achievements have been made in integrative medicine researches, especially in clinical practice. The clinical achievements mainly include the following three: innovating methodology of disease-syndrome combination, excavating the classical theory in traditional Chinese medicine (TCM), preventing and curing refractory diseases. The development ideas and strategies of integrative medicine for future mainly include (a) standing on frontier field of international medicine and improving the capability of preventing and curing refractory diseases; (b) moving prevention and control strategy forward and improving the curative effect of common and frequent disease; (c) excavating the classical theory of TCM and broadening the treatment system of modern medicine; (d) improving the innovation level of new high effective drugs on the basis of classical prescriptions and herbs in TCM; (e) rerecognizing the theory of formula corresponding to syndrome in TCM and enhancing the level of clinical research evidence based on evidence-based medicine. Integrative medicine will do obtain greater achievements in creating new medicine and pharmacology and make more tremendous contributions for the great rejuvenation of the Chinese nation and human health care.

Atypical favic invasion of the scalp by Microsporum canis: report of a case and review of reported cases caused by Microsporum species.

PubMed

Krunic, Aleksandar L; Cetner, Aaron; Tesic, Vera; Janda, William M; Worobec, Sophie

2007-03-01

Favus is an uncommon pattern of dermatophytic infection of the scalp, glabrous skin and nails. We report the first documented case of favus of the scalp caused by Microsporum canis in an immunocompetent 8-year-old girl. The classic and various atypical clinical presentations of favus are discussed, as well as a brief review of the literature given.

CYP21A2 mutation update: Comprehensive analysis of databases and published genetic variants.

PubMed

Simonetti, Leandro; Bruque, Carlos D; Fernández, Cecilia S; Benavides-Mori, Belén; Delea, Marisol; Kolomenski, Jorge E; Espeche, Lucía D; Buzzalino, Noemí D; Nadra, Alejandro D; Dain, Liliana

2018-01-01

Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders of adrenal steroidogenesis. Disorders in steroid 21-hydroxylation account for over 95% of patients with CAH. Clinically, the 21-hydroxylase deficiency has been classified in a broad spectrum of clinical forms, ranging from severe or classical, to mild late onset or non-classical. Known allelic variants in the disease causing CYP21A2 gene are spread among different sources. Until recently, most variants reported have been identified in the clinical setting, which presumably bias described variants to pathogenic ones, as those found in the CYPAlleles database. Nevertheless, a large number of variants are being described in massive genome projects, many of which are found in dbSNP, but lack functional implications and/or their phenotypic effect. In this work, we gathered a total of 1,340 GVs in the CYP21A2 gene, from which 899 variants were unique and 230 have an effect on human health, and compiled all this information in an integrated database. We also connected CYP21A2 sequence information to phenotypic effects for all available mutations, including double mutants in cis. Data compiled in the present work could help physicians in the genetic counseling of families affected with 21-hydroxylase deficiency. © 2017 Wiley Periodicals, Inc.

Symptomatic Thoracic Spinal Cord Herniation: Case Series and Technical Report

PubMed Central

Hawasli, Ammar H.; Ray, Wilson Z.; Wright, Neill M.

2014-01-01

Background and Importance Idiopathic spinal cord herniation (ISCH) is an uncommon condition located predominantly in the thoracic spine and often associated with a remote history of a major traumatic injury. ISCH has an incompletely described presentation and unknown etiology. There is no consensus on treatment algorithm and surgical technique, and there is little data on clinical outcomes. Clinical Presentation In this case series and technical report, we describe the atypical myelopathy presentation, remote history of traumatic injury, radiographic progression, treatment, and outcomes of 5 patients treated at Washington University for symptomatic ISCH. A video showing surgical repair is presented. In contrast to classic compressive myelopathy symptomology, ISCH patients presented with an atypical myelopathy, characterized by asymmetric motor and sensory deficits and early-onset urinary incontinence. Clinical deterioration correlated with progressive spinal cord displacement and herniation observed on yearly spinal imaging in a patient imaged serially due to multiple sclerosis. Finally compared to compressive myelopathy in the thoracic spine, surgical treatment of ISH led to rapid improvement despite long duration of symptoms. Conclusion Symptomatic ISCH presents with atypical myelopathy and slow temporal progression and can be successfully managed with surgical repair. PMID:24871148

Application of Bayesian Approach in Cancer Clinical Trial

PubMed Central

Bhattacharjee, Atanu

2014-01-01

The application of Bayesian approach in clinical trials becomes more useful over classical method. It is beneficial from design to analysis phase. The straight forward statement is possible to obtain through Bayesian about the drug treatment effect. Complex computational problems are simple to handle with Bayesian techniques. The technique is only feasible to performing presence of prior information of the data. The inference is possible to establish through posterior estimates. However, some limitations are present in this method. The objective of this work was to explore the several merits and demerits of Bayesian approach in cancer research. The review of the technique will be helpful for the clinical researcher involved in the oncology to explore the limitation and power of Bayesian techniques. PMID:29147387

Clinical application of the basic definition of malnutrition proposed by the European Society for Clinical Nutrition and Metabolism (ESPEN): Comparison with classical tools in geriatric care.

PubMed

Sánchez-Rodríguez, Dolores; Annweiler, Cédric; Ronquillo-Moreno, Natalia; Tortosa-Rodríguez, Andrea; Guillén-Solà, Anna; Vázquez-Ibar, Olga; Escalada, Ferran; Muniesa, Josep M; Marco, Ester

Malnutrition is a prevalent condition related to adverse outcomes in older people. Our aim was to compare the diagnostic capacity of the malnutrition criteria of the European Society of Parenteral and Enteral Nutrition (ESPEN) with other classical diagnostic tools. Cohort study of 102 consecutive in-patients ≥70 years admitted for postacute rehabilitation. Patients were considered malnourished if their Mini-Nutritional Assessment-Short Form (MNA-SF) score was ≤11 and serum albumin <3 mg/dL or MNA-SF ≤ 11, serum albumin <3 mg/dL, and usual clinical signs and symptoms of malnutrition. Sensitivity, specificity, positive and negative predictive values, accuracy likelihood ratios, and kappa values were calculated for both methods: and compared with ESPEN consensus. Of 102 eligible in-patients, 88 fulfilled inclusion criteria and were identified as "at risk" by MNA-SF. Malnutrition diagnosis was confirmed in 11.6% and 10.5% of the patients using classical methods,whereas 19.3% were malnourished according to the ESPEN criteria. Combined with low albumin levels, the diagnosis showed 57.9% sensitivity, 64.5% specificity, 85.9% negative predictive value,0.63 accuracy (fair validity, low range), and kappa index of 0.163 (poor ESPEN agreement). The combination of MNA-SF, low albumin, and clinical malnutrition showed 52.6% sensitivity, 88.3% specificity, 88.3%negative predictive value, and 0.82 accuracy (fair validity, low range), and kappa index of 0.43 (fair ESPEN agreement). Malnutrition was almost twice as prevalent when diagnosed by the ESPEN consensus, compared to classical assessment methods: Classical methods: showed fair validity and poor agreement with the ESPEN consensus in assessing malnutrition in geriatric postacute care. Copyright © 2018 Elsevier B.V. All rights reserved.

Treatment of the motor and non-motor symptoms in Parkinson's disease according to cluster symptoms presentation.

PubMed

Lauretani, Fulvio; Saginario, Antonio; Ceda, Gian Paolo; Galuppo, Laura; Ruffini, Livia; Nardelli, Anna; Maggio, Marcello

2014-01-01

The term Parkinson's disease has been changed in 'Parkinson's diseases' to describe different clinical entities observed in several studies investigating the existence of PD subtypes. PD patients could be grouped based on clinical features. By considering only motor symptoms, we can classically distinguish two groups: " the tremorigen-form" and "akinetic- rigidity-form" where resting tremor and akinesia/bradikynesia and rigidity are the most motor predominant symptoms, respectively. Non-motor symptoms (NMSs) are practically always present during the course of the disease and some of them (constipation, depressive status, hyposmia and anxiety) could even exist before the onset of classical motor symptoms. Many other NMSs and in particular hallucinations, cognitive impairment, sleep disorders and difficulty in swallowing strongly affect the advanced stage of disease, and represent a real therapeutic challenge when these symptoms are simultaneously present with different severity. If not adequately treated, they can increase the risk of hospitalization and admissions in nursing home, and profoundly and negatively influence the quality of life and participation in social activity of these patients. PD subtypes according to the combination of motor and non-motor symptoms have been recently proposed. This classification derives from cluster analysis which permits to identify statistically distinct subtypes of Parkinsonian patients according to the relevance of both motor and non-motor symptoms. In this point of view, we propose a schematic therapeutic approach of motor and non-motor symptoms in Parkinson's disease according to cluster symptoms presentation (motor and non-motor symptoms) and using medications that act on multiple domains of PD symptoms.

Differences in clinical presentation and pregnancy outcomes in antepartum preeclampsia and new-onset postpartum preeclampsia: Are these the same disorder?

PubMed

Vilchez, Gustavo; Hoyos, Luis R; Leon-Peters, Jocelyn; Lagos, Moraima; Argoti, Pedro

2016-11-01

New-onset postpartum preeclampsia is a poorly defined condition that accounts for a significant percentage of eclampsia cases. It is unclear whether new-onset postpartum preeclampsia is a different disorder from or belongs to the same spectrum of classic antepartum preeclampsia. The objective of this study was to compare the clinical presentation and pregnancy outcomes of antepartum preeclampsia and new-onset postpartum preeclampsia. A retrospective study including 92 patients with antepartum preeclampsia and 92 patients with new-onset postpartum preeclampsia was performed. Clinical presentation and pregnancy outcomes were compared. Chi-square test was used to analyze categorical variables, and independent t -test and Mann-Whitney U -test for numerical variables. P -values of <0.05 were used to indicate statistical signifi cance. Patients with antepartum preeclampsia and new-onset postpartum preeclampsia differ significantly in profile, symptoms at presentation, laboratory markers and pregnancy outcomes. New-onset postpartum preeclampsia has a distinct patient profile and clinical presentation than antepartum preeclampsia, suggesting they may represent different disorders. Characterization of a patient profile with increased risk of developing this condition will help clinicians to identify patients at risk and provide early and targeted interventions to decrease the morbidity associated with this condition.

Overuse Injuries in Professional Ballet

PubMed Central

Sobrino, Francisco José; de la Cuadra, Crótida; Guillén, Pedro

2015-01-01

Background Despite overuse injuries being previously described as the most frequent in ballet, there are no studies on professional dancers providing the specific clinical diagnoses or type of injury based on the discipline. Hypothesis Overuse injuries are the most frequent injuries in ballet, with differences in the type and frequency of injuries based on discipline. Study Design Cross-sectional study; Level of evidence, 3. Methods This was a descriptive cross-sectional study performed between January 1, 2005, and October 10, 2010, on injuries occurring in professional dancers from leading Spanish dance companies who practiced disciplines such as classical, neoclassical, contemporary, and Spanish ballet. Data, including type of injury, were obtained from specialized medical services at the Trauma Service, Fremap, Madrid, Spain. Results A total of 486 injuries were evaluated, a significant number of which were overuse disorders (P < .0001), especially in the most technically demanding discipline of classical ballet (82.60%). Injuries were more frequent among female dancers (75.90%) and classical ballet (83.60%). A statistically significant prevalence of patellofemoral pain syndrome was found in the classical discipline (P = .007). Injuries of the adductor muscles of the thigh (P = .001) and of the low back facet (P = .02) in the Spanish ballet discipline and lateral snapping hip (P = .02) in classical and Spanish ballet disciplines were significant. Conclusion Overuse injuries were the most frequent injuries among the professional dancers included in this study. The prevalence of injuries was greater for the most technically demanding discipline (classical ballet) as well as for women. Patellofemoral pain syndrome was the most prevalent overuse injury, followed by Achilles tendinopathy, patellar tendinopathy, and mechanical low back pain. Clinical Relevance Specific clinical diagnoses and injury-based differences between the disciplines are a key factor in ballet. PMID:26665100

Recommendations for initiation and cessation of enzyme replacement therapy in patients with Fabry disease: the European Fabry Working Group consensus document.

PubMed

Biegstraaten, Marieke; Arngrímsson, Reynir; Barbey, Frederic; Boks, Lut; Cecchi, Franco; Deegan, Patrick B; Feldt-Rasmussen, Ulla; Geberhiwot, Tarekegn; Germain, Dominique P; Hendriksz, Chris; Hughes, Derralynn A; Kantola, Ilkka; Karabul, Nesrin; Lavery, Christine; Linthorst, Gabor E; Mehta, Atul; van de Mheen, Erica; Oliveira, João P; Parini, Rossella; Ramaswami, Uma; Rudnicki, Michael; Serra, Andreas; Sommer, Claudia; Sunder-Plassmann, Gere; Svarstad, Einar; Sweeb, Annelies; Terryn, Wim; Tylki-Szymanska, Anna; Tøndel, Camilla; Vujkovac, Bojan; Weidemann, Frank; Wijburg, Frits A; Woolfson, Peter; Hollak, Carla E M

2015-03-27

Fabry disease (FD) is a lysosomal storage disorder resulting in progressive nervous system, kidney and heart disease. Enzyme replacement therapy (ERT) may halt or attenuate disease progression. Since administration is burdensome and expensive, appropriate use is mandatory. We aimed to define European consensus recommendations for the initiation and cessation of ERT in patients with FD. A Delphi procedure was conducted with an online survey (n = 28) and a meeting (n = 15). Patient organization representatives were present at the meeting to give their views. Recommendations were accepted with ≥75% agreement and no disagreement. For classically affected males, consensus was achieved that ERT is recommended as soon as there are early clinical signs of kidney, heart or brain involvement, but may be considered in patients of ≥16 years in the absence of clinical signs or symptoms of organ involvement. Classically affected females and males with non-classical FD should be treated as soon as there are early clinical signs of kidney, heart or brain involvement, while treatment may be considered in females with non-classical FD with early clinical signs that are considered to be due to FD. Consensus was achieved that treatment should not be withheld from patients with severe renal insufficiency (GFR < 45 ml/min/1.73 m(2)) and from those on dialysis or with cognitive decline, but carefully considered on an individual basis. Stopping ERT may be considered in patients with end stage FD or other co-morbidities, leading to a life expectancy of <1 year. In those with cognitive decline of any cause, or lack of response for 1 year when the sole indication for ERT is neuropathic pain, stopping ERT may be considered. Also, in patients with end stage renal disease, without an option for renal transplantation, in combination with advanced heart failure (NYHA class IV), cessation of ERT should be considered. ERT in patients who are non-compliant or fail to attend regularly at visits should be stopped. The recommendations can be used as a benchmark for initiation and cessation of ERT, although final decisions should be made on an individual basis. Future collaborative efforts are needed for optimization of these recommendations.

Fat embolism syndrome.

PubMed

Dhar, Dinesh

2012-12-01

Nearly all patients following fractures of bones develop sub-clinical form of fat embolism but the classical form of fat embolism syndrome (FES) presents with triad of respiratory, neurologic and dermal manifestations. Non-traumatic conditions can also have fat embolism, but the incidence is very low. The diagnosis is mainly clinical supported by laboratory and radiological finding. Treatment is mainly supportive with early stabilization of fractured bones. In most cases, prognosis is good if the condition is detected and treated early. High index of suspicion in polytrauma patient is the key to early diagnosis of this condition. This report describes two cases of FES, the second case being fulminant fat embolism with added mortality.

The trigeminal trophic syndrome: an unusual cause of nasal ulceration.

PubMed

Monrad, Seetha U; Terrell, Jeffrey E; Aronoff, David M

2004-06-01

Trigeminal trophic syndrome (TTS) is an unusual complication after peripheral or central damage to the trigeminal nerve, characterized by anesthesia, paresthesias, and ala nasi ulceration. We describe a patient with classic TTS after trigeminal rhizotomy who underwent several extensive evaluations for nasal ulceration and received prolonged immunosuppressive therapy for a presumed autoimmune disorder before the correct diagnosis was made. An understanding of the predisposing factors and clinical presentation of TTS is important to ensure a timely diagnosis of this difficult-to-treat illness. Differentiation of TTS from malignancy, infection, or vasculitis is possible on the basis of clinical history, tissue biopsy, and serologic evaluation.

Single oral paracoccidioidomycosis mimicking other lesions: report of eight cases.

PubMed

de Oliveira Gondak, Rogério; Mariano, Fernanda Viviane; dos Santos Silva, Alan Roger; Vargas, Pablo Agustin; Lopes, Márcio Ajudarte

2012-01-01

Paracoccidioidomycosis is a fungal infection caused by Paracoccidioides brasiliensis. It is an endemic disease, representing a serious health problem in Latin American countries. This infection primarily affects the lungs and is acquired by inhalation of the fungus. It can spread to other organs and tissues, mainly the oral cavity affecting more adult men from 30 to 50 years of age. On clinical presentation, several signs associated with impaired general and nutritional conditions can be noted. Oral manifestation is more common in the soft palate, gingiva, lower lip, buccal mucosa, and tongue. The classical clinical presentation is a superficial ulcer with granular appearance and hemorrhagic points. Usually, the oral lesion is extensive and generalized. Although uncommon, when the oral manifestation is single, others lesions, particularly squamous cell carcinoma, must be included in the differential diagnosis. In this article, the authors discuss the unusual presentation of eight cases of single oral paracoccidioidomycosis and its diagnostic importance.

Celiac disease and obesity: need for nutritional follow-up after diagnosis.

PubMed

Valletta, E; Fornaro, M; Cipolli, M; Conte, S; Bissolo, F; Danchielli, C

2010-11-01

More than 20 years of serological approach to diagnosis of celiac disease (CD) has deeply changed the classical clinical presentation of the disease, and some reports indicate that CD and obesity can coexist in both childhood and adolescence. We reviewed clinical records of 149 children with CD followed in our institution between 1991 and 2007, considering weight, height and body mass index (BMI), both at diagnosis and after at least 12 months of gluten-free diet (GFD). In all, 11% of patients had BMI z-score >+1 and 3% were obese (z-score >+2) at presentation. In our population, there was a significant (P=0.008) increase in BMI z-score after GFD and the percentage of overweight (z-score >+1) subjects almost doubled (11 vs 21%, P=0.03). Our data suggest the need for a careful follow-up of nutritional status after diagnosis of CD, especially addressing those who are already overweight at presentation.

A case series of patients diagnosed with orofacial granulomatosis presenting primarily with dense infiltrates and severe periorbital edema.

PubMed

Sabet-Peyman, Esfandiar J; Woodward, Julie A

2014-01-01

Orofacial granulomatosis is a relapsing nonnecrotizing granulomatous syndrome that classically presents with lip and perioral swelling. Over the years, several patients have been referred to the Duke Eye Center Oculoplastics Department for severe, progressive, recurrent eyelid swelling interfering with both their functional vision and their appearance. In this IRB approved retrospective case series, we describe the clinical course of 5 such patients, including their presenting symptoms, diagnosis, and response to treatment. We hope that oculoplastics specialists will consider this entity in the differential diagnosis of periorbital edema and consider initiating localized anti-inflammatory treatment once the diagnosis has been made.

Alveolar hemorrhage in a case of fat embolism syndrome: A case report with short systemic review.

PubMed

Dash, Sananta Kumar; Bansal, Avdesh; Wankhade, Bhushan Sudhakar; Sharma, Rakesh

2013-04-01

Fat embolism and fat embolism syndrome (FES) are well-known complications of long bone fracture and surgery involving manipulation of skeletal elements. Many non-traumatic causes of FES have been suggested but they constitute only a small portion. FES presents with classical symptoms of petechiae, hypoxemia, central nervous system symptoms along with other features such as tachycardia and pyrexia. Diagnosis of FES relies on clinical judgment rather than objective findings such as emboli present in the retinal vessels on fundoscopy, fat globules present in urine and sputum, a sudden inexplicable drop in hematocrit or platelet values, increasing erythrocyte sedimentation rate.

Longitudinal course of epilepsy in Rett syndrome and related disorders

PubMed Central

Tarquinio, Daniel C; Hou, Wei; Berg, Anne; Kaufmann, Walter E; Lane, Jane B; Skinner, Steven A; Motil, Kathleen J; Neul, Jeffrey L; Percy, Alan K; Glaze, Daniel G

2017-01-01

Abstract Epilepsy is common in Rett syndrome, an X-linked dominant disorder caused by mutations in the MECP2 gene, and in Rett-related disorders, such as MECP2 duplication. However, neither the longitudinal course of epilepsy nor the patterns of seizure onset and remission have been described in Rett syndrome and related conditions. The present study summarizes the findings of the Rett syndrome Natural History study. Participants with clinical Rett syndrome and those with MECP2 mutations without the clinical syndrome were recruited through the Rett Natural History study from 2006 to 2015. Clinical details were collected, and cumulative lifetime prevalence of epilepsy was determined using the Kaplan-Meier estimator. Risk factors for epilepsy were assessed using Cox proportional hazards models. Of 1205 participants enrolled in the study, 922 had classic Rett syndrome, and 778 of these were followed longitudinally for 3939 person-years. The diagnosis of atypical Rett syndrome with a severe clinical phenotype was associated with higher prevalence of epilepsy than those with classic Rett syndrome. While point prevalence of active seizures ranged from 30% to 44%, the estimated cumulative lifetime prevalence of epilepsy using Kaplan-Meier approached 90%. Specific MECP2 mutations were not significantly associated with either seizure prevalence or seizure severity. In contrast, many clinical features were associated with seizure prevalence; frequency of hospitalizations, inability to walk, bradykinesia, scoliosis, gastrostomy feeding, age of seizure onset, and late age of diagnosis were independently associated with higher odds of an individual having epilepsy. Aggressive behaviour was associated with lower odds. Three distinct patterns of seizure prevalence emerged in classic Rett syndrome, including those who did not have seizures throughout the study, those who had frequent relapse and remission, and those who had relentless seizures. Although 248 of those with classic Rett syndrome and a history of seizures were in terminal remission at last contact, only 74 (12% of those with a history of epilepsy) were seizure free and off anti-seizure medication. When studied longitudinally, point prevalence of active seizures is relatively low in Rett syndrome, although lifetime risk of epilepsy is higher than previously reported. While daily seizures are uncommon in Rett syndrome, prolonged remission is less common than in other causes of childhood onset epilepsy. Complete remission off anti-seizure medications is possible, but future efforts should be directed at determining what factors predict when withdrawal of medications in those who are seizure free is propitious. PMID:28007990

Spectrum and management of complement immunodeficiencies (excluding hereditary angioedema) across Europe.

PubMed

Turley, A J; Gathmann, B; Bangs, C; Bradbury, M; Seneviratne, S; Gonzalez-Granado, L I; Hackett, S; Kutukculer, N; Alachkar, H; Hambleton, S; Ritterbusch, H; Kralickova, P; Marodi, L; Seidel, M G; Dueckers, G; Roesler, J; Huissoon, A; Baxendale, H; Litzman, J; Arkwright, P D

2015-02-01

Complement immunodeficiencies (excluding hereditary angioedema and mannose binding lectin deficiency) are rare. Published literature consists largely of case reports and small series. We collated data from 18 cities across Europe to provide an overview of primarily homozygous, rather than partial genotypes and their impact and management. Patients were recruited through the ESID registry. Clinical and laboratory information was collected onto standardized forms and analyzed using SPSS software. Seventy-seven patients aged 1 to 68 years were identified. 44 % presented in their first decade of life. 29 % had C2 deficiency, defects in 11 other complement factors were found. 50 (65 %) had serious invasive infections. 61 % of Neisseria meningitidis infections occurred in patients with terminal pathway defects, while 74 % of Streptococcus pneumoniae infections occurred in patients with classical pathway defects (p < 0.001). Physicians in the UK were more likely to prescribe antibiotic prophylaxis than colleagues on the Continent for patients with classical pathway defects. After diagnosis, 16 % of patients suffered serious bacterial infections. Age of the patient and use of prophylactic antibiotics were not associated with subsequent infection risk. Inflammatory/autoimmune diseases were not seen in patients with terminal pathway, but in one third of patients classical and alternative pathway defects. The clinical phenotypes of specific complement immunodeficiencies vary considerably both in terms of the predominant bacterial pathogen, and the risk and type of auto-inflammatory disease. Appreciation of these phenotypic differences should help both immunologists and other specialists in their diagnosis and management of these rare and complex patients.

Biochemical and molecular characteristics of patients with organic acidaemias and urea cycle disorders identified through newborn screening.

PubMed

Barends, M; Pitt, J; Morrissy, S; Tzanakos, N; Boneh, A

2014-01-01

In recent years it has become clear that newborn screening (NBS) programmes using tandem mass spectrometry identify "patients" with "classical" inborn errors of metabolism who are asymptomatic. This observation raises issues regarding medicalization of "non-diseases," potentially unnecessary treatment and unnecessary anxiety to parents. This study aims to identify possible markers that may assist in predicting the need for treatment of infants with "classical" organic acidaemias (OA) and urea cycle disorders (UCD) diagnosed through NBS. Medical records of all patients with classical OA and UCD detected through the Victorian NBS programme from February 2002 to January 2014, or diagnosed clinically between 1990 and January 2002 were retrospectively reviewed. Neonatal presentation did not always predict the need for on-going strict treatment. Blood concentrations of amino acids and acyl-carnitines and the changes thereof in follow-up samples correlated with severity in citrullinaemia-I, possibly isovaleric acidaemia but not in argininosuccinic aciduria or propionic acidaemia. Some specific mutations correlate with "attenuated" citrullinaemia-I. Gender may affect clinical outcome in propionic acidaemia. Changes in blood concentration of certain metabolites (amino acids, acyl-carnitines) in the first weeks of life may be predictive of the need for treatment in some disorders but not in others. Mutation analysis may be predictive in some disorders but whether or not this should be considered as second-tier testing in NBS should be discussed separately. Copyright © 2014 Elsevier Inc. All rights reserved.

Management strategies for Janu Sandhigata Vata vis-a-vis osteoartheritis of knee: A narrative review.

PubMed

Sharma, Ahalya; Shalini, T V; Sriranjini, S J; Venkatesh, B A

2016-01-01

Ayurveda has described about the pathogenesis and the treatment of various disorders, the incidence of some of which have increased in the present scenario. Janu Sandhigata Vata correlated with osteoarthritis (OA) of the knee joint is one such chronic, degenerative, inflammatory disease which has a great impact on the quality of the life of an individual. Different modalities of treatment have been explained in the classics to tackle the condition effectively. In the present study, an attempt has been made to review the various clinical research works done in the management of OA of the knee, which are registered in various research portal. In AYUSH Research Portal using the keywords Ayurveda-clinical research-musculoskeletal disorders-osteoarthrosis of knee- Janu Sandhigata Vata and in PubMed using clinical research - Ayurveda-OA. The studies reviewed were categorized depending on the treatment used in the management of the condition. Fifty three research works were registered under AYUSH Research Portal with 34 full papers. There were 12 research papers in PubMed, out of which 6 papers which dealt with OA of the knee were reviewed. Among these six, three already existed in AYUSH Research Portal. The results were discussed by categorizing the studies as per the treatment used. Among the papers reviewed, most of them dealt with few modalities of treatment rather than the complete classical line of the treatment. The evidence-based research involving multimodality treatment with long-term follow-up covering various aspects of prevention and cure has to be conducted which is the need of the hour.

Effects of foot massage applied in two different methods on symptom control in colorectal cancer patients: Randomised control trial.

PubMed

Uysal, Neşe; Kutlutürkan, Sevinç; Uğur, Işıl

2017-06-01

This randomized controlled clinical study aimed to determine the effect of 2 foot massage methods on symptom control in people with colorectal cancer who received chemoradiotherapy. Data were collected between June 16, 2015, and February 10, 2016, in the Department of Radiation Oncology of an oncology training and research hospital. The sample comprised 60 participants. Data were collected using an introductory information form, common terminology criteria for adverse events and European Organization for Research and Treatment of Cancer Quality of Life Questionnaires C30 and CR29. Participants were randomly allocated to 3 groups: classical foot massage, reflexology, and standard care control. The classical massage group received foot massage using classical massage techniques, and the reflexology group received foot reflexology focusing on symptom-oriented reflexes twice a week during a 5-week chemoradiotherapy treatment schedule. The control group received neither classical massage nor reflexology. All patients were provided with the same clinic routine care. The classical massage was effective in reducing pain level and distension incidence while foot reflexology was effective in reducing pain and fatigue level, lowering incidence of distension and urinary frequency and improving life quality. © 2017 John Wiley & Sons Australia, Ltd.

A clinical review on megalencephaly

PubMed Central

Pavone, Piero; Praticò, Andrea Domenico; Rizzo, Renata; Corsello, Giovanni; Ruggieri, Martino; Parano, Enrico; Falsaperla, Raffaele

2017-01-01

Abstract Megalencephaly and macrocephaly present with a head circumference measurement 2 standard deviations above the age-related mean. However, even if pathologic events resulting in both megalencephaly and macrocephaly may coexist, a distinction between these two entities is appropriate, as they represent clinical expression of different disorders with a different approach in clinical work-up, overall prognosis, and treatment. Megalencephaly defines an increased growth of cerebral structures related to dysfunctional anomalies during the various steps of brain development in the neuronal proliferation and/or migration phases or as a consequence of postnatal abnormal events. The disorders associated with megalencephaly are classically defined into 3 groups: idiopathic or benign, metabolic, and anatomic. In this article, we seek to underline the clinical aspect of megalencephaly, emphasizing the main disorders that manifest with this anomaly in an attempt to properly categorize these disorders within the megalencephaly group. PMID:28658095

Maple syrup urine disease (MSUD)--clinical profile of 47 Filipino patients.

PubMed

Lee, J Y; Chiong, M A; Estrada, S C; Cutiongco-De la Paz, E M; Silao, C L T; Padilla, C D

2008-12-01

Maple syrup urine disease (MSUD) is a very rare disorder of branched-chain amino acid metabolism. However, it is the most common inborn error of metabolism in the Philippines. We present a retrospective review of 21 patients diagnosed with MSUD between 1999 and 2004. The patients presented clinically between 2 and 14 days of life (mean 5 days) and the diagnosis of MSUD was established between 6 days and 11 months of age (mean 39 days). The classical burnt sugar odour was noted in the majority of patients (81%). The diagnosis of MSUD was initially based on clinical suspicion and confirmed biochemically by measurement of leucine/isoleucine levels by thin-layer chromatography. The acute management included removal of accumulated branched-chain amino acids by peritoneal dialysis in 62% of the patients. Mortality rate of this group of patients was 24% and follow-up rate was 87%. We compared this series with a previously reported series of 26 patients to determine whether diagnosis and the management of MSUD improved over the two periods. Four cases have been diagnosed early since 1992, the majority of whom had the classic form of MSUD with the onset of symptoms in the first two weeks of life. A small subset of patients with early nonspecific symptoms was diagnosed much later owing to a low-level clinical suspicion among clinicians. Overall, however, there appears to be a small but general trend towards earlier diagnosis, reduced mortality and long-term follow up in the later series. Although we are able to diagnose and manage MSUD in the Philippines, we recognize that the clinical outcome remains poor and is due mainly to late referral of cases and inadequate long-term management. In the Philippines, we recommend that all newborns who are considered to be septic, have feeding difficulties, fail to regain their birth weight or present with any other symptoms suggestive of MSUD be evaluated in the first instance by analysis of urine for ketones and if they are positive have blood collected and sent to our laboratory for leucine/isoleucine measurement.

Supernovae in Binary Systems: An Application of Classical Mechanics.

ERIC Educational Resources Information Center

Mitalas, R.

1980-01-01

Presents the supernova explosion in a binary system as an application of classical mechanics. This presentation is intended to illustrate the power of the equivalent one-body problem and provide undergraduate students with a variety of insights into elementary classical mechanics. (HM)

Clinical, cognitive and anatomical evolution from nonfluent progressive aphasia to corticobasal syndrome: a case report.

PubMed

Gorno-Tempini, Maria Luisa; Murray, Ryan C; Rankin, Katherine P; Weiner, Michael W; Miller, Bruce L

2004-12-01

Recent clinical and pathological studies have suggested that frontotemporal lobar degeneration (FTLD) and corticobasal syndrome (CBS) show clinical and pathological overlap. We present four years of longitudinal clinical, cognitive and anatomical data in the case of a 56-year-old woman, AS, whose clinical picture evolved from FTLD to CBS. For the first three years, AS showed a progressive speech and language disorder compatible with a diagnosis of the nonfluent aphasia variant of FTLD. At year four, 10 years after her first symptom, AS developed the classical clinical signs of CBS, including alien limb phenomenon and dystonia. Voxel-based morphometry (VBM) applied to AS's four annual scans showed progression of atrophy from the inferior posterior frontal gyrus, to the left insula and finally to the medial frontal lobe. This case demonstrates the clinical overlap between FTLD and CBS and shows that the two can appear in the same patient at different stages of the disease in relation to the progression of anatomical damage.

Female genital tuberculosis cases with distinct clinical symptoms: Four case reports

PubMed Central

Aslan, Gonul; Ulger, Mahmut; Ulger, Seda Tezcan; Durukan, Huseyin; Yazici, Faik Gurkan; Emekdas, Gurol

2018-01-01

Background: Tuberculosis (TB) is an infectious disease caused by Mycobacterium tuberculosis. Genital TB (GTB) is a form of extrapulmonary TB that occurs more frequently in women, in whom it classically presents in association with menstrual irregularity, pregnancy loss and short and long-term sequelae especially infertility in infected women. Patients with GTB are usually young women diagnosed during workup for infertility. GTB is rare in postmenopausal women and responsible for only approximately 1% of postmenopausal bleeding. In this study, we aimed to evaluate the laboratory, clinical and demographic characteristics of female GTB cases. Case: We presented four female GTB cases with distinct clinical symptoms. All patients have no history of TB, and no acid-fast bacilli were seen in smears prepared from the clinical materials of the patients. Histopathological examinations revealed granulomatous inflammation in all patients. Conclusion: In the light of the clinical features of these cases we aimed to emphasize that, female GTB must be taken into account in the patients with different clinical symptoms like postmenopausal bleeding, menometrorrhagia, infertility, and menstrual irregularities. We believe that these symptoms will be helpful for the diagnosis and treatment of female GTB. PMID:29675489

Posterior segment involvement in cat-scratch disease: A case series.

PubMed

Tolou, C; Mahieu, L; Martin-Blondel, G; Ollé, P; Matonti, F; Hamid, S; Benouaich, X; Debard, A; Cassagne, M; Soler, V

2015-12-01

Cat-scratch disease (CSD) is a systemic infectious disease. The most well-known posterior segment presentation is neuroretinitis with a macular star. In this study, we present a case series emphasising the heterogeneity of the disease and the various posterior segment manifestations. A retrospective case series of consecutive patients presenting with posterior segment CSD, over a 5-year period (2010 to 2015), at two ophthalmological centres in Midi-Pyrénées. Twelve patients (17 eyes) were included, of whom 11 (92%) presented with rapidly decreasing visual acuity, with 6 of these (50%) extremely abrupt. CSD was bilateral in 5 (42% of all patients). Posterior manifestations were: 12 instances of optic nerve edema (100%), 8 of focal chorioretinitis (67%) and only 6 of the classic macular edema with macular star (25% at first examination, but 50% later). Other ophthalmological complications developed in three patients; one developed acute anterior ischemic optic neuropathy, one a retrohyaloid hemorrhage and one a branch retinal artery occlusion, all secondary to occlusive focal vasculitis adjacent to focal chorioretinitis. Classical neuroretinitis with macular star is not the only clinical presentation of CSD. Practitioners should screen for Bartonella henselae in all patients with papillitis or focal chorioretinitis. Copyright © 2015 Elsevier Masson SAS. All rights reserved.

Neurocysticercosis in Wisconsin: 3 cases and a review of the literature.

PubMed

Naddaf, Elie; Seeger, Susanne K; Stafstrom, Carl E

2014-04-01

Neurocysticercosis is the most common parasitic infection of the brain. Endemic in many regions of the world, neurocysticercosis is now showing up in nonendemic areas such as Wisconsin. We present 3 patients that illustrate features typical for neurocysticercosis in anon-endemic area, including immigrant/travel status, presentation with focal seizures, classic magnetic resonance imaging features of single enhancing lesions, and good response to treatment with anticonvulsants, anti-inflammatory agents, and cysticidal drugs. It behooves physicians involved in the care of at-risk populations to be aware of the clinical features, radiographic signs, diagnostic tests, and general principles for treating neurocysticercosis.

Is Multiple Sclerosis an Autoimmune Disease?

PubMed Central

Wootla, Bharath; Eriguchi, Makoto; Rodriguez, Moses

2012-01-01

Multiple sclerosis (MS) is an inflammatory demyelinating disease of the central nervous system (CNS) with varied clinical presentations and heterogeneous histopathological features. The underlying immunological abnormalities in MS lead to various neurological and autoimmune manifestations. There is strong evidence that MS is, at least in part, an immune-mediated disease. There is less evidence that MS is a classical autoimmune disease, even though many authors state this in the description of the disease. We show the evidence that both supports and refutes the autoimmune hypothesis. In addition, we present an alternate hypothesis based on virus infection to explain the pathogenesis of MS. PMID:22666554

Polycythemia and Thrombocytosis.

PubMed

Parnes, Aric; Ravi, Arvind

2016-12-01

Myeloproliferative neoplasms (MPNs) are diseases of excess cell proliferation from bone marrow precursors. Two classic MPNs, polycythemia vera (PV) and essential thrombocytosis (ET), are conditions of excess proliferation of red blood cells and platelets, respectively. Although PV and ET involve different cells in the myeloid lineage, their clinical presentations have shared features, consistent with overlapping mutations in growth factor signaling. The management of both diseases involves minimizing the risk of thrombotic and hemorrhagic complications. Both PV and ET can progress to myelofibrosis or acute myeloid leukemia, portending a poor prognosis. MPNs can also present as primary myelofibrosis. Copyright © 2016 Elsevier Inc. All rights reserved.

Descriptive analysis of breast cancer in African-American women at Howard University Hospital, 1960-1987.

PubMed

Williams, R; Laing, A E; Demenais, F; Kissling, G; Gause, B L; Chen, V; Bonney, G

1993-11-01

This article describes breast cancer cases seen at the Howard University Hospital from 1960 through 1987 using information from the database of the Tumor Registry, established in 1960. Clinical information at presentation is presented as well as a description of reproductive and demographic characteristics. Pre- and postmenopausal women are compared, revealing differences in reproductive experience. This may contribute to the increasing incidence of breast cancer seen among younger women in recent years. This is of particular interest because the classic excess of nulliparous women among breast cancer cases is not seen among the population described here.

Extensive clinical experience: relative prevalence of different androgen excess disorders in 950 women referred because of clinical hyperandrogenism.

PubMed

Carmina, E; Rosato, F; Jannì, A; Rizzo, M; Longo, R A

2006-01-01

We undertook this study to estimate the prevalence of the various androgen excess disorders using the new criteria suggested for the diagnosis of polycystic ovary syndrome (PCOS). The study was performed at two endocrine departments at the University of Palermo (Palermo, Italy). The records of all patients referred between 1980 and 2004 for evaluation of clinical hyperandrogenism were reevaluated. All past diagnoses were reviewed using the actual diagnostic criteria. To be included in this study, the records of the patients had to present the following available data: clinical evaluation of hyperandrogenism, body weight and height, testosterone (T), free T, dehydroepiandrosterone sulfate, 17-hydroxyprogesterone, progesterone, and pelvic sonography. A total of 1226 consecutive patients were seen during the study period, but only the scores of 950 patients satisfied all criteria and were reassessed for the diagnosis. The prevalence of androgen excess disorders was: PCOS, 72.1% (classic anovulatory patients, 56.6%; mild ovulatory patients, 15.5%), idiopathic hyperandrogenism, 15.8%; idiopathic hirsutism, 7.6%; 21-hydroxylase-deficient nonclassic adrenal hyperplasia, 4.3%; and androgen-secreting tumors, 0.2%. Compared with other androgen excess disorders, patients with PCOS had increased body weight whereas nonclassic adrenal hyperplasia patients were younger and more hirsute and had higher serum levels of T, free T, and 17-hydroxyprogesterone. Classic PCOS is the most common androgen excess disorder. However, mild androgen excess disorders (ovulatory PCOS and idiopathic hyperandrogenism) are also common and, in an endocrine setting, include about 30% of patients with clinical hyperandrogenism.

Efficacy and tolerability of rasagiline in daily clinical use--a post-marketing observational study in patients with Parkinson's disease.

PubMed

Reichmann, H; Jost, W H

2010-09-01

The MAO-B inhibitor rasagiline is indicated for the treatment of idiopathic Parkinson's disease (PD), and its use is supported by evidence from large-scale, controlled clinical studies. The post-marketing observational study presented here investigated the efficacy and tolerability of rasagiline treatment (monotherapy or combination therapy) in daily clinical practice. The study included patients with idiopathic PD who received rasagiline (recommended dose 1 mg, once daily) as monotherapy or combination therapy. The treatment and observation period was approximately 4 months. Outcome measures included the change from baseline in the Columbia University Rating Scale (CURS), the Unified PD Rating Scale fluctuation subscale, daily OFF time (patient home diaries) and the PD Questionnaire-39. Adverse drug reactions/adverse events (ADRs/AEs) and the physician's global judgement of tolerability and efficacy were also examined. Overall, 754 patients received rasagiline during the study. Patients treated with rasagiline (monotherapy or combination therapy) showed significant improvements from baseline in symptom severity (including classical motor and non-classical motor/non-motor symptoms) and quality of life (QoL). Patients receiving combination therapy also experienced significant reductions in daily OFF time. Tolerability was rated as good/very good in over 90% of patients. In daily clinical practice, monotherapy or combination therapy with rasagiline is able to improve PD symptoms, reduce OFF time, and improve QoL, whilst demonstrating favourable tolerability. In addition, rasagiline has a simple dosing schedule of one tablet, once daily, with no titration. These results are consistent with the pivotal rasagiline clinical studies (TEMPO, LARGO and PRESTO).

Influence of Lewy Pathology on Alzheimer's Disease Phenotype: A Retrospective Clinico-Pathological Study.

PubMed

Roudil, Jennifer; Deramecourt, Vincent; Dufournet, Boris; Dubois, Bruno; Ceccaldi, Mathieu; Duyckaerts, Charles; Pasquier, Florence; Lebouvier, Thibaud

2018-01-01

Studies have shown the frequent coexistence of Lewy pathology (LP) in Alzheimer's Disease (AD). The aim of this study was to determine the influence of LP on the clinical and cognitive phenotype in a cohort of patients with a neuropathological diagnosis of AD. We reviewed neuropathologically proven AD cases, reaching Braak stages V and VI in the brain banks of Lille and Paris between 1993 and 2016, and classified them according to LP extension (amygdala, brainstem, limbic, or neocortical). We then searched patient files for all available clinical and neuropsychiatric features and neuropsychological data. Thirty-three subjects were selected for this study, among which 16 were devoid of LP and 17 presented AD with concomitant LP. The latter were stratified into two subgroups according to LP distribution: 7 were AD with amygdala LP and 10 were AD with 'classical' (brainstem, limbic or neocortical) LP. When analyzing the incidence of each clinical feature at any point during the disease course, we found no significant difference in symptom frequency between the three groups. However, fluctuations appeared significantly earlier in patients with classical LP (2±3.5 years) than in patients without LP (7±1.7 years) or with amygdala LP (8±2.8 years; p < 0.01). There was no significant difference in cognitive profiles. Our findings suggest that the influence of LP on the clinical phenotype of AD is subtle. Core features of dementia with Lewy bodies do not allow clinical diagnosis of a concomitant LP on a patient-to-patient basis.

Primary transmission of chronic wasting disease versus scrapie prions from small ruminants to transgenic mice expressing ovine or cervid prion protein.

PubMed

Madsen-Bouterse, Sally A; Schneider, David A; Zhuang, Dongyue; Dassanayake, Rohana P; Balachandran, Aru; Mitchell, Gordon B; O'Rourke, Katherine I

2016-09-01

Development of mice expressing either ovine (Tg338) or cervid (TgElk) prion protein (PrP) have aided in characterization of scrapie and chronic wasting disease (CWD), respectively. Experimental inoculation of sheep with CWD prions has demonstrated the potential for interspecies transmission but, infection with CWD versus classical scrapie prions may be difficult to differentiate using validated diagnostic platforms. In this study, mouse bioassay in Tg338 and TgElk was utilized to evaluate transmission of CWD versus scrapie prions from small ruminants. Mice (≥5 per homogenate) were inoculated with brain homogenates from clinically affected sheep or goats with naturally acquired classical scrapie, white-tailed deer with naturally acquired CWD (WTD-CWD) or sheep with experimentally acquired CWD derived from elk (sheep-passaged-CWD). Survival time (time to clinical disease) and attack rates (brain accumulation of protease resistant PrP, PrPres) were determined. Inoculation with classical scrapie prions resulted in clinical disease and 100 % attack rates in Tg338, but no clinical disease at endpoint (>300 days post-inoculation, p.i.) and low attack rates (6.8 %) in TgElk. Inoculation with WTD-CWD prions yielded no clinical disease or brain PrPres accumulation in Tg338 at endpoint (>500 days p.i.), but rapid onset of clinical disease (~121 days p.i.) and 100 % attack rate in TgElk. Sheep-passaged-CWD resulted in transmission to both mouse lines with 100 % attack rates at endpoint in Tg338 and an attack rate of ~73 % in TgElk with some culled due to clinical disease. These primary transmission observations demonstrate the potential of bioassay in Tg338 and TgElk to help differentiate possible infection with CWD versus classical scrapie prions in sheep and goats.

Incipient nonarteritic anterior ischemic optic neuropathy.

PubMed

Hayreh, Sohan Singh; Zimmerman, M Bridget

2007-09-01

To describe the clinical entity of incipient nonarteritic anterior ischemic optic neuropathy (NAION). Cohort study. Fifty-four patients (60 eyes) seen in our clinic from 1973 through 2000. At their first visit to our clinic, all patients gave a detailed ophthalmic and medical history and underwent a comprehensive ophthalmic evaluation, color fundus photography, and fluorescein fundus angiography. At each follow-up visit (of 49 patients [55 eyes]), the same ophthalmic evaluation was performed, except for fluorescein fundus angiography. Clinical features of incipient NAION. Mean age (+/- standard deviation) of the patients was 58.7+/-15.9 years. Median follow-up time was 6.3 years (interquartile range [IQR], 2.1-8.5). At initial visit, all had optic disc edema (ODE) without any visual loss attributable to NAION. In 55%, the fellow eye had classic NAION; in 25%, incipient progressed to classic NAION (after a median time of 5.8 weeks [IQR, 3.2-10.1]); and in 20%, classic NAION developed after resolution of the first episode of incipient NAION. Patients with incipient, compared with classic, NAION had a greater prevalence of diabetes mellitus (P<0.0001) and lower prevalence of ischemic heart disease (P = 0.046). Patients who progressed to classic NAION versus those who did not were significantly younger (P = 0.025), and their visual acuity worsened in 31% and 0%, respectively, and remained stable in 62% and 98%, respectively; in the eyes with progression, central (in 31%) and peripheral (in 77%) visual fields worsened compared with only 1 eye and 2 eyes, respectively, that did not (P = 0.01 and P<0.0001, respectively); and median time to resolution of ODE in the progressed group was 5.8 weeks (IQR, 4.6-8.7) versus 9.6 weeks (IQR, 6.0-17.7) in those who did not progress. The results show that incipient NAION is a distinct clinical entity, with asymptomatic ODE and no visual loss attributable to NAION. When a patient seeks treatment with asymptomatic ODE, incipient NAION must be borne in mind as a strong possibility in those who have had classic NAION in the fellow eye, in diabetics of all ages, and in those with high risk factors for NAION; this can avoid unnecessary and expensive investigations.

Role of Nutraceuticals in Hypolipidemic Therapy.

PubMed

Barbagallo, Carlo M; Cefalù, Angelo Baldassare; Noto, Davide; Averna, Maurizio R

2015-01-01

Nutraceuticals are food components or active ingredients present in foods and used in therapy. This article analyzes the characteristics of the molecules with a lipid-lowering effect. The different nutraceuticals may have different mechanisms of action: inhibition of cholesterol synthesis primarily through action on the enzyme HMG-CoA reductase (policosanol, polyphenols, garlic and, above all, red yeast rice), increase in LDL receptor activity (berberine), reduction of intestinal cholesterol absorption (garlic, plant sterols, probiotics), and also the ability to interfere with bile metabolism (probiotics, guggul). Based on the different mechanisms of action, some nutraceuticals are then able to enhance the action of statins. Nutraceuticals are often used without relevant evidence: mechanisms of action are not clearly confirmed; most of clinical data are derived from small, uncontrolled studies, and finally, except for fermented red rice, there are no clinical trials which may document the relationship between these interventions and the reduction of clinical events. Therefore, among all nutraceuticals, it is necessary to extrapolate those having a really documentable efficacy. However, these kinds of treatments are usually well-tolerated by patients. Overall, subjects with a middle or low cardiovascular risk are the best indication of nutraceuticals, but they may also be useful for patients experiencing side effects during classical therapies. Finally, in consideration of the additive effect of some nutraceuticals, a combination therapy with classical drugs may improve the achievement of clinical targets. Thus, nutraceuticals may be a helpful alternative in hypolipidemic treatment and, if properly used, might represent a valid strategy of cardiovascular prevention.

Role of Nutraceuticals in Hypolipidemic Therapy

PubMed Central

Barbagallo, Carlo M.; Cefalù, Angelo Baldassare; Noto, Davide; Averna, Maurizio R.

2015-01-01

Nutraceuticals are food components or active ingredients present in foods and used in therapy. This article analyzes the characteristics of the molecules with a lipid-lowering effect. The different nutraceuticals may have different mechanisms of action: inhibition of cholesterol synthesis primarily through action on the enzyme HMG-CoA reductase (policosanol, polyphenols, garlic and, above all, red yeast rice), increase in LDL receptor activity (berberine), reduction of intestinal cholesterol absorption (garlic, plant sterols, probiotics), and also the ability to interfere with bile metabolism (probiotics, guggul). Based on the different mechanisms of action, some nutraceuticals are then able to enhance the action of statins. Nutraceuticals are often used without relevant evidence: mechanisms of action are not clearly confirmed; most of clinical data are derived from small, uncontrolled studies, and finally, except for fermented red rice, there are no clinical trials which may document the relationship between these interventions and the reduction of clinical events. Therefore, among all nutraceuticals, it is necessary to extrapolate those having a really documentable efficacy. However, these kinds of treatments are usually well-tolerated by patients. Overall, subjects with a middle or low cardiovascular risk are the best indication of nutraceuticals, but they may also be useful for patients experiencing side effects during classical therapies. Finally, in consideration of the additive effect of some nutraceuticals, a combination therapy with classical drugs may improve the achievement of clinical targets. Thus, nutraceuticals may be a helpful alternative in hypolipidemic treatment and, if properly used, might represent a valid strategy of cardiovascular prevention. PMID:26664894

[Use of the reliable change index to evaluate the effectiveness of clinical interventions: Application of an asthma training program].

PubMed

Montero, Mikel; Iraurgi, Ioseba; Matellanes, Begoña; Montero, José Manuel

2015-12-01

To compare two methods for the evaluation of outcomes to assess effectiveness of a therapeutic intervention of a professional education program on asthma control. A naturalistic, intervention study in which asthmatic patients were attended by clinicians (IG group) who Had taken part in a special education program and a control group (CG) that received medical assistance from clinicians still waiting to be trained. Five urban Primary Care Health Centres of the same region. From an initial sample of 100 patients, 76 formed the final sample for analysis. The study included 37 males and 39 females, aged between 18 and 65 years (M=41.2 years). The two study groups were found to be homogeneous except for the sex variable. Training program for clinical treatment adherence. Peak flow as spirometric index, and structured interview. The results were initially analysed using classical techniques based on robust ANOVA models, and then by calculating the Reliable Change Index (RCI). ANOVA models, conducted separately for each sex, showed no significant differences, due to sample size. RCI methodology showed significant differences in the percentage of patients improved in both groups, as well as clinically relevant changes being observed individually. The RCI method is presented as an attractive alternative as regards the classical methods of analysis that can help in the clinical decision. Copyright © 2014 Elsevier España, S.L.U. All rights reserved.

Lymphogranuloma Venereum 2015: Clinical Presentation, Diagnosis, and Treatment.

PubMed

Stoner, Bradley P; Cohen, Stephanie E

2015-12-15

Lymphogranuloma venereum (LGV) has emerged as an important cause of proctitis and proctocolitis in men who have sex with men; classical inguinal presentation is now increasingly uncommon. We report summary findings of an extensive literature review on LGV clinical presentation, diagnosis, and treatment that form the evidence base for the 2015 Centers for Disease Control and Prevention treatment guidelines for sexually transmitted diseases. Proctitis and proctocolitis are now the most commonly reported clinical manifestations of LGV, with symptoms resembling those of inflammatory bowel disease. Newer molecular tests to confirm LGV infection are sensitive and specific, but are generally restricted to research laboratory or public health settings. Doxycycline (100 mg twice daily for 21 days) remains the treatment of choice for LGV. Patients with rectal chlamydial infection and signs or symptoms of proctitis should be tested for LGV, or if confirmatory testing is not available, should be treated empirically with a recommended regimen to cover LGV infection. © The Author 2015. Published by Oxford University Press on behalf of the Infectious Diseases Society of America. All rights reserved. For Permissions, please e-mail: journals.permissions@oup.com.

Pelizaeus-Merzbacher disease in patients with molecularly confirmed diagnosis.

PubMed

Mierzewska, H; Jamroz, E; Mazurczak, T; Hoffman-Zacharska, D; Szczepanik, E

2016-01-01

Pelizaeus-Merzbacher disease (PMD) is X-linked hypomyelinating leukodystrophy caused by mutations of the PLP1 gene, which codes the proteolipid protein 1. The result of mutations is abnormal myelination - hypomyelination and dysmyelination of cerebral white matter, and in some form of the disease hypomyelinating peripheral neuropathy. DNA samples from 68 patients suspected of PMD due to the clinical course and hypomyelination at magnetic resonance imaging (MRI) were analyzed. Medical history and detailed clinical course of PMD patients were also analyzed. Different mutations of the PLP1 gene were detected in 14 boys from 11 families (~20%). Amongst the molecularly confirmed patients, 13 presented classical PMD forms but clinical phenotypes varied in the severity even amongst siblings. One patient presented a severe connatal form. One mother, obligate carrier, presented complicated SPG2 (spastic paraparesis). There was no phenotype-genotype correlation in our material. In many cases PMD was suspected with a delay of many years, sometimes only after birth of another affected child in the family. Pelizaeus-Merzbacher disease was most frequently misdiagnosed as cerebral palsy.

[Mitochondrial leukoencephalopathy of infancy: is it an early expression of Leigh syndrome?].

PubMed

Rouco Axpe, I; Garaizar Axpe, C; Labairu Echevarría, M; Sanjurjo Crespo, P; Aldamiz Echevarría, L; Prats Viñas, J M

2003-06-01

Leigh syndrome is probably the most frequent metabolic disorder in infancy and childhood. The classic form of the disease is characterized by bilateral lesions of basal ganglia and brainstem. The extensive involvement of white matter, without radiological basal ganglia abnormalities, is an unusual manifestation of the disease. Four patients who presented the disease during the first year of life are described. The four patients presented a stereotyped clinical picture, consisting of regression of already acquired psychomotor abilities and very prominent pyramidal signs. These clinical manifestations and results of neuroimaging studies suggested a primary leukodystrophy. Increased values of lactic and piruvic acids suggested a mitochondrial disorder. Enzymatic studies confirmed a mitochondrial respiratory chain deficiency in two patients, and a pyruvate dehydrogenase complex defect in the remaining two patients. The pathological findings in the latter two sisters were consistent with the characteristic microscopic lesions of Leigh syndrome, but with atypical distribution. Diagnosis of Leigh syndrome must be taken into consideration in infants presenting with a leukodystrophic clinical and radiological pattern, despite the lack of basal ganglia involvement.

Only complementary voices tell the truth: a reevaluation of validity in multi-informant approaches of child and adolescent clinical assessments.

PubMed

Kaurin, Aleksandra; Egloff, Boris; Stringaris, Argyris; Wessa, Michèle

2016-08-01

Multi-informant approaches are thought to be key to clinical assessment. Classical theories of psychological measurements assume that only convergence among different informants' reports allows for an estimate of the true nature and causes of clinical presentations. However, the integration of multiple accounts is fraught with problems because findings in child and adolescent psychiatry do not conform to the fundamental expectation of convergence. Indeed, reports provided by different sources (self, parents, teachers, peers) share little variance. Moreover, in some cases informant divergence may be meaningful and not error variance. In this review, we give an overview of conceptual and theoretical foundations of valid multi-informant assessment and discuss why our common concepts of validity need revaluation.

Atypical Ewing sarcoma breakpoint region 1 fluorescence in-situ hybridization signal patterns in bone and soft tissue tumours: diagnostic experience with 135 cases.

PubMed

Vargas, A Cristina; Selinger, Christina I; Satgunaseelan, Laveniya; Cooper, Wendy A; Gupta, Ruta; Stalley, Paul; Brown, Wendy; Soper, Judy; Schatz, Julie; Boyle, Richard; Thomas, David M; Tattersall, Martin H N; Bhadri, Vivek A; Maclean, Fiona; Bonar, S Fiona; Scolyer, Richard A; Karim, Rooshdiya Z; McCarthy, Stanley W; Mahar, Annabelle; O'Toole, Sandra A

2016-12-01

Recurrent Ewing sarcoma breakpoint region 1 (EWSR1) gene rearrangements characterize a select group of bone and soft tissue tumours. In our routine diagnostic practice with fluorescence in-situ hybridization (FISH), we have occasionally observed EWSR1 gene rearrangements in tumours not associated classically with EWSR1 translocations. This study aimed to review our institutional experience of this phenomenon and also to highlight the occurrence of unusual EWSR1 FISH signals (i.e. 5' centromeric region or 3' telomeric region signals) that do not fulfil the published diagnostic criteria for rearrangements. Using an EWSR1 break-apart probe, we performed FISH assays on formalin-fixed paraffin-embedded tissue sections from 135 bone and soft tissue specimens as part of their routine diagnostic work-up. EWSR1 gene rearrangements were identified in 51% of cases, 56% of which also showed an abnormal FISH signal pattern (in addition to classically rearranged signals). However, atypical FISH signals were present in 45% of the non-rearranged cases. In addition, we observed tumours unrelated to those described classically as EWSR1-associated that were technically EWSR1-rearranged in 6% of cases. Borderline levels of rearrangement (affecting 10-30% of lesional cells) were present in an additional 17% of these cases. While our study confirmed that FISH is a sensitive and specific tool in the diagnosis of EWSR1-associated tumours, atypical FISH signals and classical rearrangement in entities other than EWSR1-associated tumours can occur. Therefore, it is essential that the FISH result not be used as an isolated test, but must be evaluated in the context of clinical features, imaging, pathological and immunohistochemical findings. © 2016 John Wiley & Sons Ltd.

[Geographic expansion of hantavirus pulmonary syndrome in Argentina. The southernest case report].

PubMed

Bellomo, Carla; Nudelman, Julio; Kwaszka, Roberto; Vazquez, Gabriela; Cantoni, Gustavo; Weinzettel, Barbara; Larrieu, Edmundo G; Padula, Paula

2009-01-01

Since 1995 more than 1000 cases of hantavirus pulmonary syndrome (HPS) were reported in Argentina, a severe disease and often fatal to humans. Most cases were associated with Andes virus (AND) that caused few events of person-to-person transmission. Several lineages of pathogenic AND viruses have been described, including AND South, hosted by the rodent Oligoryzomys longicaudatus which affects the Patagonian region of Argentina and Chile. We studied the clinical and epidemiological characteristics of a HPS case. The objective was to describe the clinical presentation of the case, its epidemiology, the likely site of infection, the viral variant implicated and its relationship with the closest reported cases. We carried out the clinical follow up, serological and molecular diagnosis and the epidemiological research, including a rodent reservoir study. The clinical presentation of the case was the classical and moderate, caused by AND South virus. Its viral nucleotide sequence was compared with cases from Southern Argentina and Chile. This case was found to be the most Southern (48 degrees 46' 1.2'' S; 70 degrees 15' O) case reported and involved a new Argentinean province.

Maple syrup urine disease: mechanisms and management.

PubMed

Blackburn, Patrick R; Gass, Jennifer M; Vairo, Filippo Pinto E; Farnham, Kristen M; Atwal, Herjot K; Macklin, Sarah; Klee, Eric W; Atwal, Paldeep S

2017-01-01

Maple syrup urine disease (MSUD) is an inborn error of metabolism caused by defects in the branched-chain α-ketoacid dehydrogenase complex, which results in elevations of the branched-chain amino acids (BCAAs) in plasma, α-ketoacids in urine, and production of the pathognomonic disease marker, alloisoleucine. The disorder varies in severity and the clinical spectrum is quite broad with five recognized clinical variants that have no known association with genotype. The classic presentation occurs in the neonatal period with developmental delay, failure to thrive, feeding difficulties, and maple syrup odor in the cerumen and urine, and can lead to irreversible neurological complications, including stereotypical movements, metabolic decompensation, and death if left untreated. Treatment consists of dietary restriction of BCAAs and close metabolic monitoring. Clinical outcomes are generally good in patients where treatment is initiated early. Newborn screening for MSUD is now commonplace in the United States and is included on the Recommended Uniform Screening Panel (RUSP). We review this disorder including its presentation, screening and clinical diagnosis, treatment, and other relevant aspects pertaining to the care of patients.

Maple syrup urine disease: mechanisms and management

PubMed Central

Farnham, Kristen M; Atwal, Herjot K; Macklin, Sarah; Klee, Eric W; Atwal, Paldeep S

2017-01-01

Maple syrup urine disease (MSUD) is an inborn error of metabolism caused by defects in the branched-chain α-ketoacid dehydrogenase complex, which results in elevations of the branched-chain amino acids (BCAAs) in plasma, α-ketoacids in urine, and production of the pathognomonic disease marker, alloisoleucine. The disorder varies in severity and the clinical spectrum is quite broad with five recognized clinical variants that have no known association with genotype. The classic presentation occurs in the neonatal period with developmental delay, failure to thrive, feeding difficulties, and maple syrup odor in the cerumen and urine, and can lead to irreversible neurological complications, including stereotypical movements, metabolic decompensation, and death if left untreated. Treatment consists of dietary restriction of BCAAs and close metabolic monitoring. Clinical outcomes are generally good in patients where treatment is initiated early. Newborn screening for MSUD is now commonplace in the United States and is included on the Recommended Uniform Screening Panel (RUSP). We review this disorder including its presentation, screening and clinical diagnosis, treatment, and other relevant aspects pertaining to the care of patients. PMID:28919799

Monogenic Autoinflammatory Diseases: Concept And Clinical Manifestations

PubMed Central

De Jesus, Adriana Almeida; Goldbach-Mansky, Raphaela

2013-01-01

The objectives of this review are to describe the clinical manifestations of the growing spectrum of monogenic autoinflammatory diseases including recently described syndromes. The autoinflammatory diseases can be grouped based on clinical findings: 1. the three classic hereditary “periodic fever syndromes”, familial Mediterranean Fever (FMF); TNF receptor associated periodic syndrome (TRAPS); and mevalonate kinase deficiency/hyperimmunoglobulinemia D and periodic fever syndrome (HIDS); 2. the cryopyrin associated periodic syndromes (CAPS), comprising familial cold autoinflammatory syndrome (FCAS), Muckle-Wells syndrome (MWS) and neonatal-onset multisystem inflammatory disease (NOMID) or CINCA, and; 3. pediatric granulomatous arthritis (PGA); 4. disorders presenting with skin pustules, including deficiency of interleukin 1 receptor antagonist (DIRA); Majeed syndrome; pyogenic arthritis, pyoderma gangrenosum and acne (PAPA) syndrome; deficiency of interleukin 36 receptor antagonist (DITRA); CARD14 mediated psoriasis (CAMPS), and early-onset inflammatory bowel diseases (EO-IBD); 5. inflammatory disorders caused by mutations in proteasome components, the proteasome associated autoinflammatory syndromes (PRAAS) 6. very rare conditions presenting with autoinflammation and immunodeficiency. PMID:23711932

From genotype to phenotype; clinical variability in Lesch-Nyhan disease. The role of epigenetics.

PubMed

Trigueros Genao, M; Torres, R J

2014-11-01

Lesch-Nyhan disease is a rare genetic disease characterized by a deficiency in the function of the enzyme hypoxanthine-guanine phosphoribosyltransferase (HGPRT). Patients affected by this disease experience hyperuricemia, motor disorders, mental retardation and, in the most severe cases, self-mutilation. Its clinical manifestations depend on the enzymatic activity of HGPRT, which is classically linked to the type of alteration in the HGPRT gene. More than 400 mutations of this gene have been found. At present, one of the controversial aspects of the disease is the relationship between the genotype and phenotype; cases have been described lacking a mutation, such as the patient presented in this article, as well as families who despite sharing the same genetic defect show disorders with differing severity. Epigenetic processes, which modify the genetic expression without changing the sequence of the deoxyribonucleic acid (DNA), could explain the clinical variability observed in this disease. Copyright © 2014 Elsevier España, S.L.U. All rights reserved.

Clinical relevance of cytogenetics to pediatric practice. Postnatal findings of Patau syndrome - Review of 5 cases.

PubMed

Plaiasu, Vasilica; Ochiana, Diana; Motei, Gabriela; Anca, Ioana; Georgescu, Adrian

2010-07-01

Patau syndrome (trisomy 13) is one of the most common chromosomal anomalies clinically characterized by the presence of numerous malformations with a limited survival rate for most cases. Babies are usually identified at birth and the diagnosis is confirmed with genetic testing. In this review we outline the clinical and cytogenetic aspects of trisomy 13 and associated phenotypes for 5 cases analyzed in the last 3 years, referred to our Clinical Genetics Department. For each child cytogenetic analysis was performed to determine the genetic variant; also, the patients were investigated for other associated malformations (cardiac, cerebral, renal, ocular anomalies). All 5 cases presented multiple malformations, including some but not all signs of the classical clinical triad suggestive of Patau syndrome. The cytogenetic investigation confirmed for each case the suspected diagnosis and also indicated the specific genetic variant, this being a valuable information for the genetic counselling of the families. The application of genetic analysis can increase diagnosis and prognosis accuracy and have an impact on clinical management.

Report of the Colloquium on the Classics in Education, 1965.

ERIC Educational Resources Information Center

Else, Gerald F., Ed.

This is the report of an international meeting on the Classics, conducted August 1965 in London, England. Resolutions adopted by the Colloquium, minutes of group sessions, papers, and national reports on the state of classical education are presented. Group sessions discuss the teaching of classical languages, classical literatures, and ancient…

Melanocytoma-like melanoma may be the missing link between benign and malignant uveal melanocytic lesions in humans and dogs: a comparative study.

PubMed

Zoroquiain, Pablo; Mayo-Goldberg, Erin; Alghamdi, Sarah; Alhumaid, Sulaiman; Perlmann, Eduardo; Barros, Paulo; Mayo, Nancy; Burnier, Miguel N

2016-12-01

The cutoff presented in the current classification of canine melanocytic lesions by Wilcock and Pfeiffer is based on the clinical outcome rather than morphological concepts. Classification of tumors based on morphology or molecular signatures is the key to identifying new therapies or prognostic factors. Therefore, the aim of this study was to analyze morphological findings in canine melanocytic lesions based on classic malignant morphologic principles of neoplasia and to compare these features with human uveal melanoma (HUM) samples. In total, 64 canine and 111 human morphologically malignant melanocytic lesions were classified into two groups (melanocytoma-like or classic melanoma) based on the presence or absence of M cells, respectively. Histopathological characteristics were compared between the two groups using the χ-test, t-test, and multivariate discriminant analysis. Among the 64 canine tumors, 28 (43.7%) were classic and 36 (56.3%) were melanocytoma-like melanomas. Smaller tumor size, a higher degree of pigmentation, and lower mitotic activity distinguished melanocytoma-like from classic tumors with an accuracy of 100% for melanocytoma-like lesions. From the human series, only one case showed melanocytoma-like features and had a low risk for metastasis characteristics. Canine uveal melanoma showed a morphological spectrum with features similar to the HUM counterpart (classic melanoma) and overlapped features between uveal melanoma and melanocytoma (melanocytoma-like melanoma). Recognition that the subgroup of melanocytoma-like melanoma may represent the missing link between benign and malignant lesions could help explain the progression of uveal melanoma in dogs; these findings can potentially be translated to HUM.

[Clinical forms of secondary syphilis in Cameroun].

PubMed

Koueke, P; Mvele, E D

1978-01-01

Clinical lesions of Secondary Syphilis in Negroes are similar to classical descriptions which confirm what Montel postulated (1972) according to which "Syphilis is almost the same all over"; the essential difference we discovered lies in the frequencies of clinical forms met.

Solitary Fibrous Tumors of the Orbit and Central Nervous System: A Case Series Analysis

PubMed Central

Brum, Marisa; Nzwalo, Hipólito; Oliveira, Edson; Pelejão, Maria Rita; Pereira, Pedro; Farias, João Paulo; Pimentel, José

2018-01-01

Introduction: Solitary fibrous tumor (SFT) is rarely diagnosed in clinical practice. Since its initial descriptions in the central nervous system (CNS) and the orbits, very few case reports and small case series have expanded their clinical and pathological characterization. We sought to describe a cases series of SFT from a single laboratory of neuropathology belonging to a tertiary university hospital. Methods: Retrospective clinical and histopathological description of eight cases of CNS and orbital SFT diagnosed over a 21-year period of time. Results: Median age was 47.3 years and four were males. Clinical presentation was related to local mass effect in all. Tumors occurred in the orbits (5/62.5%), intracranial dura attached (2), and the spinal medulla (1). The neuropathology showed the presence of hemangiopericytoma type (2), classic type (3), and mixed type (3). Histological anaplasia was present in two cases. Widespread/total immunoreactivity for vimentin, CD34, and Bcl-2 was present in all. Gross total removal was conducted in the majority (6/75%) and subtotal removal in 2 (25%). Three patients were submitted to adjuvant treatment (radiosurgery and radiotherapy). Recurrence occurred in four patients, 13–120 months after surgical intervention. Anaplasia was present in one case of recurrence. Conclusion: Our case series confirms the clinical and neuropathological diversity of CNS and orbital SFTs. Studies with longer follow-up periods are necessary to better understand the clinical behavior and prognosis of the SFT in the CNS and orbits. PMID:29682031

Three cases of subcutaneous granuloma annulare of the penis: a rare presentation of a common disease.

PubMed

Toepfer, Nicholas J; Wessner, Scott R; Elston, Dirk M; Simmons, Jennifer; Sumfest, Joel M

2011-09-01

To describe three patients who presented to a single institution within four years of each other with isolated granuloma annulare of the penis. Granuloma annulare is an inflammatory disease of the dermis that can affect men of any age including childhood. Granuloma annulare of the penis is a remarkably uncommon presentation with only 12 cases previously reported. A retrospective review of pathologic records was conducted confirming three cases of penile granuloma annulare diagnosed at our institution. The three cases are described in detail including the history, presentation, histological findings and treatment of each patient. The clinical variants, characteristic histology, classic clinical presentation, differential diagnosis and recurrence following surgery of granuloma annulare are reviewed. We describe three individuals from a single institution with isolated granuloma annulare of the penis suggesting this condition is more common than previously thought. Patients with penile granuloma annulare may present to practicing urologists and it is important to be familiar with this idiopathic subcutaneous disorder in order to avoid unnecessary aggressive surgery. Copyright © 2011 Elsevier Inc. All rights reserved.

Biotype-specific tcpA genes in Vibrio cholerae.

PubMed

Iredell, J R; Manning, P A

1994-08-01

The tcpA gene, encoding the structural subunit of the toxin-coregulated pilus, has been isolated from a variety of clinical isolates of Vibrio cholerae, and the nucleotide sequence determined. Strict biotype-specific conservation within both the coding and putative regulatory regions was observed, with important differences between the El Tor and classical biotypes. V. cholerae O139 Bengal strains appear to have El Tor-type tcpA genes. Environmental O1 and non-O1 isolates have sequences that bind an El Tor-specific tcpA DNA probe and that are weakly and variably amplified by tcpA-specific polymerase chain reaction primers, under conditions of reduced stringency. The data presented allow the selection of primer pairs to help distinguish between clinical and environmental isolates, and to distinguish El Tor (and Bengal) biotypes from classical biotypes of V. cholerae. While the role of TcpA in cholera vaccine preparations remains unclear, the data strongly suggest that TcpA-containing vaccines directed at O1 strains need include only the two forms of TcpA, and that such vaccines directed at (O139) Bengal strains should include the TcpA of El Tor biotype.

Diagnosing and treating Diamond Blackfan anaemia: results of an international clinical consensus conference

PubMed Central

Vlachos, Adrianna; Ball, Sarah; Dahl, Niklas; Alter, Blanche P; Sheth, Sujit; Ramenghi, Ugo; Meerpohl, Joerg; Karlsson, Stefan; Liu, Johnson M; Leblanc, Thierry; Paley, Carole; Kang, Elizabeth M; Leder, Eva Judmann; Atsidaftos, Eva; Shimamura, Akiko; Bessler, Monica; Glader, Bertil; Lipton, Jeffrey M

2008-01-01

Diamond Blackfan anaemia (DBA) is a rare, genetically and clinically heterogeneous, inherited red cell aplasia. Classical DBA affects about seven per million live births and presents during the first year of life. However, as mutated genes have been discovered in DBA, non-classical cases with less distinct phenotypes are being described in adults as well as children. In caring for these patients it is often difficult to have a clear understanding of the treatment options and their outcomes because of the lack of complete information on the natural history of the disease. The purpose of this document is to review the criteria for diagnosis, evaluate the available treatment options, including corticosteroid and transfusion therapies and stem cell transplantation, and propose a plan for optimizing patient care. Congenital anomalies, mode of inheritance, cancer predisposition, and pregnancy in DBA are also reviewed. Evidence-based conclusions will be made when possible; however, as in many rare diseases, the data are often anecdotal and the recommendations are based upon the best judgment of experienced clinicians. The recommendations regarding the diagnosis and management described in this report are the result of deliberations and discussions at an international consensus conference. PMID:18671700

Cholinergic and dopaminergic activities in senile dementia of Lewy body type.

PubMed

Perry, E K; Marshall, E; Perry, R H; Irving, D; Smith, C J; Blessed, G; Fairbairn, A F

1990-01-01

Analyses of brain tissue in a recently identified group of elderly demented patients suggest a neurochemical basis for some of the clinical features. Senile dementia of the Lewy body type (SDLT) can be distinguished from classical Alzheimer disease (AD) clinically by its acute presentation with confusion frequently accompanied by visual hallucinations, and neuropathologically by the presence of Lewy bodies and senile plaques (but not generally neurofibrillary tangles) in the cerebral cortex. Reductions in the cortical cholinergic enzyme choline acetyltransferase were more pronounced in individuals with (80%) compared to those without (50%) hallucinations and correlated strongly with mental test scores in the group as a whole. In the caudate nucleus, dopamine levels were related to the number of neurons in the substantia nigra, there being a 40-60% loss of both in SDLT--probably accounting for mild extrapyramidal features in some of these cases--compared with an 80% loss in Parkinson disease and no change in AD. The cholinergic correlates of mental impairment in SDLT together with the relative absence of cortical neurofibrillary tangles and evidence for postsynaptic cholinergic receptor compensation raise the question of whether this type of dementia may be more amenable to cholinotherapy than classical AD.

An unexpected knock on Corrigan's secret door.

PubMed

Woywodt, Alexander

2010-10-01

Corrigan's secret door describes a metaphorical escape route for busy physicians. The term was derived from the successful and exceptionally busy professional life of Irish physician Dominic John Corrigan (1802-80). It is claimed that Corrigan's outpatient clinic was so busy that he required a secret door in his consulting rooms to escape from the ever-growing queue of eager patients. The origins of this charming story are unknown, and the door may have never existed. However, at present, Corrigan's secret door is often quoted when busy physicians have their own little ways in surviving a stressful professional life. Generations of British-trained doctors have grown up with Corrigan's secret door, as it was featured in the introduction of the Oxford Handbook of Clinical Medicine. Accordingly, trainees as well as more senior doctors are often reminded that having a 'secret door' is vital in surviving in the medical profession. My own escape is through classical music and the violoncello, in particular. As the name implies, my own secret door is normally invisible to colleagues and patients. This little article is about a patient who found me out, and a reflection on the role of classical music and the cello in my professional life.

Towards a new paradigm of microscopic colitis: Incomplete and variant forms

PubMed Central

Guagnozzi, Danila; Landolfi, Stefania; Vicario, Maria

2016-01-01

Microscopic colitis (MC) is a chronic inflammatory bowel disease that has emerged in the last three decades as a leading cause of chronic watery diarrhoea. MC classically includes two main subtypes: lymphocytic colitis (LC) and collagenous colitis (CC). Other types of histopathological changes in the colonic mucosa have been described in patients with chronic diarrhoea, without fulfilling the conventional histopathological criteria for MC diagnosis. Whereas those unclassified alterations remained orphan for a long time, the use of the term incomplete MC (MCi) is nowadays universally accepted. However, it is still unresolved whether CC, LC and MCi should be considered as one clinical entity or if they represent three related conditions. In contrast to classical MC, the real epidemiological impact of MCi remains unknown, because only few epidemiological studies and case reports have been described. MCi presents clinical characteristics indistinguishable from complete MC with a good response to budesonide and cholestiramine. Although a number of medical treatments have been assayed in MC patients, currently, there is no causal treatment approach for MC and MCi, and only empirical strategies have been performed. Further studies are needed in order to identify their etiopathogenic mechanisms, and to better classify and treat MC. PMID:27784958

Phosphorus Necrosis of the Jaw: A Present-day Study

PubMed Central

Hughes, J. P. W.; Baron, R.; Buckland, D. H.; Cooke, M. A.; Craig, J. D.; Duffield, D. P.; Grosart, A. W.; Parkes, P. W. J.; Porter, A.

1962-01-01

A historical note on the aetiology of phossy jaw shows that present-day knowledge is little greater than it was a century ago. The varied clinical course of the disease is described together with a report of 10 classical cases not previously reported. Six cases, not amounting to true necrosis but in which healing after dental extraction was delayed, and described, and mention is made of the noticeable differences in the oral state and appearances of tartar of healthy workmen exposed to phosphorus compared with healthy workmen not exposed. But no systematic differences of any kind were found in the incidence of general infections, fractures of bones, haematological findings, and biochemical studies of blood and urine in two groups of healthy men most exposed and least exposed to phosphorous in the same factory. An intensive study in hospital of a case of classical necrosis showed no departure from normal, except delayed healing following bone biopsy from the iliac crest, and a reversed polymorphonuclear/lymphocyte ratio. In the discussion the time of onset of necrosis after first exposure to phosphorus, clinical and radiological diagnosis, the organisms present, personal susceptibility, the appearance of the sequestra, and regeneration of bone are considered. An up-to-date note on prevention of the disease is given, although this has met with only partial success. Some persons are highly susceptible and, whilst complete protection is impossible in the light of our present knowledge, early diagnosis and modern treatment have robbed the disease of its terrible manifestations of Victorian times and turned it into a minor, although often uncomfortable complaint, with little or no resulting disability. Images PMID:14449812

Sporotrichosis in Rio de Janeiro, Brazil: Sporothrix brasiliensis is associated with atypical clinical presentations.

PubMed

Almeida-Paes, Rodrigo; de Oliveira, Manoel Marques Evangelista; Freitas, Dayvison Francis Saraiva; do Valle, Antônio Carlos Francesconi; Zancopé-Oliveira, Rosely Maria; Gutierrez-Galhardo, Maria Clara

2014-09-01

There have been several recent changes in the taxonomy of Sporothrix schenckii as well as new observations regarding the clinical aspects of sporotrichosis. In this study, we determined the identification of the Sporothrix species associated with both classic and unusual clinical aspects of sporotrichosis observed in the endemic area of sporotrichosis in Rio de Janeiro, Brazil. To verify whether S. brasiliensis is associated with clinical manifestations of sporotrichosis, a cross-sectional study was performed in which Sporothrix isolates from 50 patients with different clinical manifestations were analyzed and their isolates were studied by phenotypic and genotypic methods. Data from these patients revealed a distinct clinical picture and therapeutic response in infections caused by Sporothrix brasiliensis (n = 45) compared to patients with S. schenckii sensu stricto (n = 5). S. brasiliensis was associated with disseminated cutaneous infection without underlying disease, hypersensitivity reactions, and mucosal infection, whereas patients with S. schenckii presented with less severe and more often localized disease, similar to the majority of previously described sporotrichosis cases. Interestingly, S. brasiliensis-infected patients overall required shorter durations of itraconazole (median 16 weeks) compared to the individuals with S. schenckii (median 24 weeks). These findings suggest that Sporothrix species are linked to different clinical manifestations of sporotrichosis and that S. brasiliensis is effectively treated with oral itraconazole.

Myriad presentations of penile fracture: report of three cases and review of literature

PubMed Central

Faridi, M. S.; Agarwal, Nitin; Saini, Pradeep; Kaur, Navneet; Gupta, Arun

2015-01-01

Penile fracture is an unusual though not a rare condition but underreported. It is defined classically as the disruption of the tunica albuginea with rupture of the corpus cavernosum. Penile fracture can be misdiagnosed with rupture of corpus spongiosum clinically. Therefore, we are presenting three cases due to its varied clinical presentation and management. In first patient, there was a tear in the corpus spongiosum and a partial tear in the ventral urethra. Both defects were repaired with interrupted sutures. In the second patient, there was a rupture of corpus cavernosum, which was primarily repaired. After 1-year of primary surgery, patient again came with similar complaints, and diagnosis of scar dehiscence was made. Patient was treated conservatively with satisfactory results on follow-up. Third patient came with a history of 1-week. Intra-operative findings revealed only hematoma without any defect in corpora cavernosum, corpus spongiosum, and urethra. Only evacuation of hematoma was done. Early surgical treatment of penile fracture is advantageous. In recurrent penile fracture, if no penile deformity or any reasonable clinical and radiological evidence, then conservative management is advocated. Even when presentation is delayed up to 1-week, operative management has shown good results. PMID:25949981

Myriad presentations of penile fracture: report of three cases and review of literature.

PubMed

Faridi, M S; Agarwal, Nitin; Saini, Pradeep; Kaur, Navneet; Gupta, Arun

2015-01-01

Penile fracture is an unusual though not a rare condition but underreported. It is defined classically as the disruption of the tunica albuginea with rupture of the corpus cavernosum. Penile fracture can be misdiagnosed with rupture of corpus spongiosum clinically. Therefore, we are presenting three cases due to its varied clinical presentation and management. In first patient, there was a tear in the corpus spongiosum and a partial tear in the ventral urethra. Both defects were repaired with interrupted sutures. In the second patient, there was a rupture of corpus cavernosum, which was primarily repaired. After 1-year of primary surgery, patient again came with similar complaints, and diagnosis of scar dehiscence was made. Patient was treated conservatively with satisfactory results on follow-up. Third patient came with a history of 1-week. Intra-operative findings revealed only hematoma without any defect in corpora cavernosum, corpus spongiosum, and urethra. Only evacuation of hematoma was done. Early surgical treatment of penile fracture is advantageous. In recurrent penile fracture, if no penile deformity or any reasonable clinical and radiological evidence, then conservative management is advocated. Even when presentation is delayed up to 1-week, operative management has shown good results.

Myeloproliferative Neoplasms in Children.

PubMed

Hofmann, Inga

2015-09-01

Myeloproliferative neoplasms (MPN) are a group of clonal hematopoietic stem cell disorders characterized by aberrant proliferation of one or more myeloid lineages often with increased immature cells in the peripheral blood. The three classical BCR-ABL-negative MPNs are: 1) polycythemia vera (PV), 2) essential thrombocythemia (ET), and 3) primary myelofibrosis (PMF), which are typically disorders of older adults and are exceedingly rare in children. The diagnostic criteria for MPNs remain largely defined by clinical, laboratory and histopathology assessments in adults, but they have been applied to the pediatric population. The discovery of the JAK2 V617F mutation, and more recently, MPL and CALR mutations, are major landmarks in the understanding of MPNs. Nevertheless, they rarely occur in children, posing a significant diagnostic challenge given the lack of an objective, clonal marker. Therefore, in pediatric patients, the diagnosis must rely heavily on clinical and laboratory factors, and exclusion of secondary disorders to make an accurate diagnosis of MPN. This review focuses on the clinical presentation, diagnostic work up, differential diagnosis, treatment and prognosis of the classical BCR-ABL-negative MPNs (PV, ET and PMF) in children and highlights key differences to the adult diseases. Particular attention will be given to pediatric PMF, as it is the only disorder of this group that is observed in infants and young children, and in many ways appears to be a unique entity compared to adult PMF.

Elephantiasis nostras verrucosa on the buttocks and sacrum of two immobile men.

PubMed

Setyadi, Hedy G; Iacco, Megan Reif; Shwayder, Tor A; Ormsby, Adrian

2011-02-15

Though typically involving the lower extremities, elephantiasis nostras verrucosa (ENV) can occur in any area affected by lymphedema. Here we report two cases of ENV: one is a biopsy-proven case and the other is a clinically diagnosed case. Both occurred on the buttocks and sacrum of immobile, morbidly obese men who were persistently in the supine or seated position. Whereas classic ENV is not uncommon, this striking presentation on these unusual areas is quite rare.

The Many Faces of Meningococcal Disease: A Case Series and Review of Presentations and Treatment Options

DTIC Science & Technology

2004-01-01

United States. Classic findings include headache, fevers , and a petechial rash that begins on the lower extremities with a predilection for areas of...cough and sore throat, but no headache or fevers . He reported to the medical clinic at 9:00 a.m., 6 hours after the rash began. He was in acute...meningitidis septicemia (meningococcemia). Case 2 A 22-year-old active-duty female developed fevers , headaches, confusion, and a rash on her

Pseudomyopia in a patient with blocked ventriculo-peritoneal shunt--a case report.

PubMed

Voon, L W; Goh, K Y; Lim, T H; Tan, K K; Yong, V S

1997-03-01

Accommodative spasm usually encompasses a classical triad of pseudomyopia, esodeviation and pupillary constriction. Accommodative spasm is most often psychogenic in nature; however, it may be associated with other organic diseases of which a rare cause is that of intracranial catheter complications. We report a case of dorsal midbrain syndrome with pseudomyopia in a patient with a blocked ventriculo-peritoneal shunt inserted for aqueductal stenosis. Clinical presentation was unusual in this patient as pseudomyopia occurred with exodeviation and without pupillary constriction.

Dyskeratosis congenita--two siblings with a new missense mutation in the DKC1 gene.

PubMed

Coelho, Joana Dias; Lestre, Sara; Kay, Teresa; Lopes, Maria João Paiva; Fiadeiro, Teresa; Apetato, Margarida

2011-01-01

Dyskeratosis congenital is reported in two siblings. They presented with the classic triad of mucocutaneous features: leukoplakia of the tongue, dystrophic nails, and a widespread reticulate pigmentation on the neck and upper chest. A genetic analysis was performed and a new missense mutation S356P, hemizygous, was identified in the DKC1 gene in both patients. Acitretin was started at a low-dose in both patients, resulting in clinical improvement and important, positive psychosocial effects. © 2011 Wiley Periodicals, Inc.

[Internal pancreatic fistula. Presentation of a new case].

PubMed

Pampin, J L; López, A; Rivera, A; VanderEyden, A; Terrón, F

1989-09-01

Internal pancreatic fistulas are a well-known complication of chronic pancreatitis and should be added to the classic complications of malabsorption, diabetes, pain and pseudocyst. The fact that it is an infrequent complication (Bradley compiled about 200 reported cases in 1982) motivated us to make this clinical report. The importance of total parenteral nutrition (NPT), which leads to cure in 50% of these patients, and the usefulness of endoscopic retrograde cholangiopancreatography (ERCP) are evaluated in the cases in which surgery is contemplated.

Lethal Progressive Thoracic Insufficiency in a Neonate Due to Jarcho Levin Syndrome

PubMed Central

Bhutia, Euden; Maria, Arti; Verma, Arushi; Sethi, Sidharth Kumar

2014-01-01

A rare case of Jarcho Levin syndrome (JLS) presenting as a lethal progressive respiratory insufficiency in early neonatal period is reported. The neonate had classical features of this syndrome including vertebral segmentation defects, typical costo-vertebral fusion defects and scoliosis resulting in small thoracic volume and limited chest expansion; all consistent with a clinical diagnosis of JLS with thoracic insufficiency. In addition, our case had a rare association of dextrocardia and acyanotic congenital heart disease. PMID:24741543

Older subjects with hyperthyroidism present with a paucity of symptoms and signs: a large cross-sectional study.

PubMed

Boelaert, K; Torlinska, B; Holder, R L; Franklyn, J A

2010-06-01

The absence of classical symptoms and signs of hyperthyroidism often results in delayed diagnosis and treatment. The objective of the study was to determine the prevalence of symptoms and signs of hyperthyroidism according to patients' age and gender as well as severity and type of hyperthyroidism. This was a cross-sectional study of 3049 consecutive patients with hyperthyroidism presenting to a single secondary/tertiary care clinic. Calculation of adjusted odds ratios for presence/absence of symptoms/signs of hyperthyroidism simultaneously analyzing the influence of patients' age/gender, disease etiology/severity, symptom duration, and smoking. The majority of patients older than 61 yr had two or more symptoms. The lowest proportion of subjects reporting five or more symptoms was found in those older than 61 yr. Increasing age was associated with reduced adjusted odds ratio for the presence of most classical symptoms except for weight loss and shortness of breath, independent of disease severity. Those with more severe hyperthyroidism and smokers had increased odds ratios for most symptoms. Older age, higher serum free T(4) concentrations at diagnosis, male gender, and toxic nodular hyperthyroidism were independently associated with risk of atrial fibrillation. Signs of ophthalmopathy were associated with increasing age, smoking, longer symptom duration, and female gender. Classical symptoms and signs of hyperthyroidism are significantly less prevalent in older patients and more prevalent in smokers and subjects with higher free T(4) concentrations. We propose a lower threshold for performing thyroid function tests in patients older than 60 yr, especially in those presenting with atrial fibrillation, weight loss, or shortness of breath.

[Heavy particle radiation therapy].

PubMed

Lozares, S; Mañeru, F; Pellejero, S

2009-01-01

The characteristics of radiation formed by heavy particles make it a highly useful tool for therapeutic use. Protons, helium nuclei or carbon ions are being successfully employed in radiotherapy installations throughout the world. This article sets out the physical and technological foundations that make these radiation particles suitable for attacking white volume, as well as the different ways of administering treatment. Next, the main clinical applications are described, which show the therapeutic advantages in some of the pathologies most widely employed in proton and hadron therapy centres at present. Under continuous study, the clinical use of heavy particles appears to be an enormously promising path of advance in comparison with classical technologies, both in tumour coverage and in reducing dosages in surrounding tissue.

Effect of lullaby and classical music on physiologic stability of hospitalized preterm infants: a randomized trial.

PubMed

Amini, E; Rafiei, P; Zarei, K; Gohari, M; Hamidi, M

2013-01-01

Music is considered a subset of developmental supportive care. It may act as a suitable auditory stimulant in preterm infants. Also, it may reduce stress responses in autonomic, motor and state systems. To assess and compare the influence of lullaby and classical music on physiologic parameters. This is a randomized clinical trial with cross-over design. A total of 25 stable preterm infants with birth weight of 1000-2500 grams were studied for six consecutive days. Each infant was exposed to three phases: lullaby music, classical music, and no music (control) for two days each. The sequence of these phases was assigned randomly to each subject. Babies were continuously monitored for heart rate, respiratory rate, and oxygen saturation and changes between phases were analyzed. Lullaby reduced heart rate (p < 0.001) and respiratory rate (p = 0.004). These effects extended in the period after the exposure (p < .001 and p = 0.001, respectively). Classical music reduced heart rate (p = 0.018). The effects of classical music disappeared once the music stopped. Oxygen saturation did not change during intervention. Music can affect vital signs of preterm infants; this effect can possibly be related to the reduction of stress during hospitalization. The implications of these findings on clinical and developmental outcomes need further study.

[Haemorrhagic septicaemia in a pig caused by extraintestinal pathogenic Escherichia coli (ExPEC) as a differential diagnosis in classical swine fever--case report and review of the literature].

PubMed

Reiner, Gerald; von Berg, Stephan; Hillen, Sonja; Clemens, Nina; Huisinger, Maike; Burkhardt, Eberhard; Weiss, Reinhardt; Reinacher, Manfred

2010-01-01

Domestic pig herds in some regions of Germany are permanently threatened by Classical Swine Fever. In the case of suspicion, a series of infectious and non infectious causes has to be excluded. The present paper describes a case of Escherichia coli septicaemia, with clinical and pathological symptoms that could not be differentiated from European or African Swine Fever. The E. coli strain could not be classified by standard serotyping. Virulence factors common for ETEC (enterotoxic E. coli) or EDEC (edema-disease E. coli) were not detected. Instead, we found P-fimbriae and aerobactin, thus characterising this strain as an extraintestinal pathogenic strain. Such strains have sporadicly been reported as the cause of septicaemia in piglets or weaners, but the present case is the first report of an E. coli-associated septicaemia in an adult pig. This case shows that extraintestinal pathogenic E. coli can be the cause of severe septicaemia and haemorrhagia. They thus have to be considered as a further differential diagnosis in swine fever.

Towards a New Functional Anatomy of Language

ERIC Educational Resources Information Center

Poeppel, David; Hickok, Gregory

2004-01-01

The classical brain-language model derived from the work of Broca, Wernicke, Lichtheim, Geschwind, and others has been useful as a heuristic model that stimulates research and as a clinical model that guides diagnosis. However, it is now uncontroversial that the classical model is (i) empirically wrong in that it cannot account for the range of…

[Atypical antipsychotic-induced weight gain].

PubMed

Godlewska, Beata R; Olajossy-Hilkesberger, Luiza; Marmurowska-Michałowska, Halina; Olajossy, Marcin; Landowski, Jerzy

2006-01-01

Introduction of a new group of antipsychotic drugs, called atypical because of the proprieties differing them from classical neuroleptics, gave hope for the beginning of a new era in treatment of psychoses, including schizophrenia. Different mechanisms of action not only resulted in a broader spectrum of action and high efficacy but also in a relative lack of extrapiramidal symptoms. However, atypical neuroleptics are not totally free from adverse effects. Symptoms such as sedation, metabolic changes and weight gain, often very quick and severe - present also in the case of classical drugs, but put to the background by extrapiramidal symptoms--have become prominent. Weight gain is important both from the clinical and subjective point of view--as associated with serious somatic consequences and as a source of enormous mental distress. These problems are addressed in this review, with the focus on weight gain associated with the use of specific atypical neuroleptics.

A value-based medicine analysis of ranibizumab for the treatment of subfoveal neovascular macular degeneration.

PubMed

Brown, Melissa M; Brown, Gary C; Brown, Heidi C; Peet, Jonathan

2008-06-01

To assess the conferred value and average cost-utility (cost-effectiveness) for intravitreal ranibizumab used to treat occult/minimally classic subfoveal choroidal neovascularization associated with age-related macular degeneration (AMD). Value-based medicine cost-utility analysis. MARINA (Minimally Classic/Occult Trial of the Anti-Vascular Endothelial Growth Factor Antibody Ranibizumab in the Treatment of Neovascular AMD) Study patients utilizing published primary data. Reference case, third-party insurer perspective, cost-utility analysis using 2006 United States dollars. Conferred value in the forms of (1) quality-adjusted life-years (QALYs) and (2) percent improvement in health-related quality of life. Cost-utility is expressed in terms of dollars expended per QALY gained. All outcomes are discounted at a 3% annual rate, as recommended by the Panel on Cost-effectiveness in Health and Medicine. Data are presented for the second-eye model, first-eye model, and combined model. Twenty-two intravitreal injections of 0.5 mg of ranibizumab administered over a 2-year period confer 1.039 QALYs, or a 15.8% improvement in quality of life for the 12-year period of the second-eye model reference case of occult/minimally classic age-related subfoveal choroidal neovascularization. The reference case treatment cost is $52652, and the cost-utility for the second-eye model is $50691/QALY. The quality-of-life gain from the first-eye model is 6.4% and the cost-utility is $123887, whereas the most clinically simulating combined model yields a quality-of-life gain of 10.4% and cost-utility of $74169. By conventional standards and the most commonly used second-eye and combined models, intravitreal ranibizumab administered for occult/minimally classic subfoveal choroidal neovascularization is a cost-effective therapy. Ranibizumab treatment confers considerably greater value than other neovascular macular degeneration pharmaceutical therapies that have been studied in randomized clinical trials.

A novel HRM assay for differentiating classical strains and highly pathogenic strains of type 2 porcine reproductive and respiratory syndrome virus.

PubMed

Sun, Junying; Bingga, Gali; Liu, Zhicheng; Zhang, Chunhong; Shen, Haiyan; Guo, Pengju; Zhang, Jianfeng

2018-06-01

Differentiation of classical strains and highly pathogenic strains of porcine reproductive and respiratory syndrome virus is crucial for effective vaccination programs and epidemiological studies. We used nested PCR and high resolution melting curve analysis with unlabeled probe to distinguish between the classical and the highly pathogenic strains of this virus. Two sets of primers and a 20 bp unlabeled probe were designed from the NSP3 gene. The unlabeled probe included two mutations specific for the classical and highly pathogenic strains of the virus. An additional primer set from the NSP2 gene of the highly pathogenic vaccine strain JXA1-R was used to detect its exclusive single nucleotide polymorphism. We tested 107 clinical samples, 21 clinical samples were positive for PRRSV (consistent with conventional PCR assay), among them four were positive for the classical strain with the remainder 17 for the highly pathogenic strain. Around 10 °C difference between probe melting temperatures showed the high discriminatory power of this method. Among highly pathogenic positive samples, three samples were determined as positive for JXA1-R vaccine-related strain with a 95% genotype confidence percentage. All these genotyping results using the high resolution melting curve assay were confirmed with DNA sequencing. This unlabeled probe method provides an alternative means to differentiate the classical strains from the highly pathogenic porcine reproductive and respiratory syndrome virus strains rapidly and accurately. Copyright © 2018. Published by Elsevier Ltd.

SU-D-BRB-05: Quantum Learning for Knowledge-Based Response-Adaptive Radiotherapy

DOE Office of Scientific and Technical Information (OSTI.GOV)

El Naqa, I; Ten, R

Purpose: There is tremendous excitement in radiotherapy about applying data-driven methods to develop personalized clinical decisions for real-time response-based adaptation. However, classical statistical learning methods lack in terms of efficiency and ability to predict outcomes under conditions of uncertainty and incomplete information. Therefore, we are investigating physics-inspired machine learning approaches by utilizing quantum principles for developing a robust framework to dynamically adapt treatments to individual patient’s characteristics and optimize outcomes. Methods: We studied 88 liver SBRT patients with 35 on non-adaptive and 53 on adaptive protocols. Adaptation was based on liver function using a split-course of 3+2 fractions with amore » month break. The radiotherapy environment was modeled as a Markov decision process (MDP) of baseline and one month into treatment states. The patient environment was modeled by a 5-variable state represented by patient’s clinical and dosimetric covariates. For comparison of classical and quantum learning methods, decision-making to adapt at one month was considered. The MDP objective was defined by the complication-free tumor control (P{sup +}=TCPx(1-NTCP)). A simple regression model represented state-action mapping. Single bit in classical MDP and a qubit of 2-superimposed states in quantum MDP represented the decision actions. Classical decision selection was done using reinforcement Q-learning and quantum searching was performed using Grover’s algorithm, which applies uniform superposition over possible states and yields quadratic speed-up. Results: Classical/quantum MDPs suggested adaptation (probability amplitude ≥0.5) 79% of the time for splitcourses and 100% for continuous-courses. However, the classical MDP had an average adaptation probability of 0.5±0.22 while the quantum algorithm reached 0.76±0.28. In cases where adaptation failed, classical MDP yielded 0.31±0.26 average amplitude while the quantum approach averaged a more optimistic 0.57±0.4, but with high phase fluctuations. Conclusion: Our results demonstrate that quantum machine learning approaches provide a feasible and promising framework for real-time and sequential clinical decision-making in adaptive radiotherapy.« less

TU-AB-207-01: Introduction to Tomosynthesis

DOE Office of Scientific and Technical Information (OSTI.GOV)

Sechopoulos, I.

2015-06-15

Digital Tomosynthesis (DT) is becoming increasingly common in breast imaging and many other applications. DT is a form of computed tomography in which a limited set of projection images are acquired over a small angular range and reconstructed into a tomographic data set. The angular range and number of projections is determined both by the imaging task and equipment manufacturer. For example, in breast imaging between 9 and 25 projections are acquired over a range of 15° to 60°. It is equally valid to treat DT as the digital analog of classical tomography - for example, linear tomography. In fact,more » the name “tomosynthesis” is an acronym for “synthetic tomography”. DT shares many common features with classical tomography, including the radiographic appearance, dose, and image quality considerations. As such, both the science and practical physics of DT systems is a hybrid between CT and classical tomographic methods. This lecture will consist of three presentations that will provide a complete overview of DT, including a review of the fundamentals of DT, a discussion of testing methods for DT systems, and a description of the clinical applications of DT. While digital breast tomosynthesis will be emphasized, analogies will be drawn to body imaging to illustrate and compare tomosynthesis methods. Learning Objectives: To understand the fundamental principles behind tomosynthesis, including the determinants of image quality and dose. To learn how to test the performance of tomosynthesis imaging systems. To appreciate the uses of tomosynthesis in the clinic and the future applications of tomosynthesis.« less

TU-AB-207-00: Digital Tomosynthesis

DOE Office of Scientific and Technical Information (OSTI.GOV)

NONE

2015-06-15

Digital Tomosynthesis (DT) is becoming increasingly common in breast imaging and many other applications. DT is a form of computed tomography in which a limited set of projection images are acquired over a small angular range and reconstructed into a tomographic data set. The angular range and number of projections is determined both by the imaging task and equipment manufacturer. For example, in breast imaging between 9 and 25 projections are acquired over a range of 15° to 60°. It is equally valid to treat DT as the digital analog of classical tomography - for example, linear tomography. In fact,more » the name “tomosynthesis” is an acronym for “synthetic tomography”. DT shares many common features with classical tomography, including the radiographic appearance, dose, and image quality considerations. As such, both the science and practical physics of DT systems is a hybrid between CT and classical tomographic methods. This lecture will consist of three presentations that will provide a complete overview of DT, including a review of the fundamentals of DT, a discussion of testing methods for DT systems, and a description of the clinical applications of DT. While digital breast tomosynthesis will be emphasized, analogies will be drawn to body imaging to illustrate and compare tomosynthesis methods. Learning Objectives: To understand the fundamental principles behind tomosynthesis, including the determinants of image quality and dose. To learn how to test the performance of tomosynthesis imaging systems. To appreciate the uses of tomosynthesis in the clinic and the future applications of tomosynthesis.« less

TU-AB-207-02: Testing of Body and Breast Tomosynthesis Sytems

DOE Office of Scientific and Technical Information (OSTI.GOV)

Jones, A.

2015-06-15

Digital Tomosynthesis (DT) is becoming increasingly common in breast imaging and many other applications. DT is a form of computed tomography in which a limited set of projection images are acquired over a small angular range and reconstructed into a tomographic data set. The angular range and number of projections is determined both by the imaging task and equipment manufacturer. For example, in breast imaging between 9 and 25 projections are acquired over a range of 15° to 60°. It is equally valid to treat DT as the digital analog of classical tomography - for example, linear tomography. In fact,more » the name “tomosynthesis” is an acronym for “synthetic tomography”. DT shares many common features with classical tomography, including the radiographic appearance, dose, and image quality considerations. As such, both the science and practical physics of DT systems is a hybrid between CT and classical tomographic methods. This lecture will consist of three presentations that will provide a complete overview of DT, including a review of the fundamentals of DT, a discussion of testing methods for DT systems, and a description of the clinical applications of DT. While digital breast tomosynthesis will be emphasized, analogies will be drawn to body imaging to illustrate and compare tomosynthesis methods. Learning Objectives: To understand the fundamental principles behind tomosynthesis, including the determinants of image quality and dose. To learn how to test the performance of tomosynthesis imaging systems. To appreciate the uses of tomosynthesis in the clinic and the future applications of tomosynthesis.« less

Adult classical homocystinuria requiring parenteral nutrition: Pitfalls and management.

PubMed

Tran, Christel; Bonafé, Luisa; Nuoffer, Jean-Marc; Rieger, Julie; Berger, Mette M

2017-07-25

Homocystinuria due to cystathionine beta synthase (CBS) deficiency presents with a wide clinical spectrum. Treatment by the enteral route aims at reducing homocysteine levels by using vitamin B6, possibly methionine-restricted diet, betaine and/or folate and vitamin B 12 supplementation. Currently no nutritional guidelines exist regarding parenteral nutrition (PN) under acute conditions. Exhaustive literature search was performed, in order to identify the relevant studies describing the pathogenesis and nutritional intervention of adult classical homocystinuria requiring PN. Description of an illustrative case of an adult female with CBS deficiency and intestinal perforation, who required total PN due to contraindication to enteral nutrition. Nutritional management of decompensated classical homocystinuria is complex and currently no recommendation exists regarding PN composition. Amino acid profile and monitoring of total homocysteine concentration are the main tools enabling a precise assessment of the severity of metabolic alterations. In case of contraindication to enteral nutrition, compounded PN will be required, as described in this paper, to ensure adequate low amounts of methionine and others essential amino acids and avoid potentially fatal toxic hypermethioninemia. By reviewing the literature and reporting successful nutritional management of a decompensated CBS deficiency using tailored PN with limited methionine intake and n-3 PUFA addition, we would like to underscore the fact that standard PN solutions are not adapted for CBS deficient critical ill patients: new solutions are required. High methionine levels (>800 μmol/L) being potentially neurotoxic, there is an urgent need to improve our knowledge of acute nutritional therapy. Copyright © 2017 Elsevier Ltd and European Society for Clinical Nutrition and Metabolism. All rights reserved.

Non-classical and potential symmetry analysis of Richard's equation for moisture flow in soil

NASA Astrophysics Data System (ADS)

Wiltshire, Ron; El-Kafri, Manal

2004-01-01

This paper focuses upon the derivation of the non-classical symmetries of Bluman and Cole as they apply to Richard's equation for water flow in an unsaturated uniform soil. It is shown that the determining equations for the non-classical case lead to four highly non-linear equations which have been solved in five particular cases. In each case the corresponding similarity ansatz has been derived and Richard's equation is reduced to an ordinary differential equation. Explicit solutions are produced when possible. Richard's equation is also expressed as a potential system and in reviewing the classical Lie solutions a new symmetry is derived together with its similarity ansatz. Determining equations are then produced for the potential system using the non-classical algorithm. This results in an under-determined set of equations and an example symmetry that reveals a missing classical case is presented. An example of a classical and a non-classical symmetry reduction applied to the infiltration of moisture in soil is presented. The condition for surface invariance is used to demonstrate the equivalence of a classical Lie and a potential symmetry.

The UK MRC Mitochondrial Disease Patient Cohort Study: clinical phenotypes associated with the m.3243A>G mutation--implications for diagnosis and management.

PubMed

Nesbitt, Victoria; Pitceathly, Robert D S; Turnbull, Doug M; Taylor, Robert W; Sweeney, Mary G; Mudanohwo, Ese E; Rahman, Shamima; Hanna, Michael G; McFarland, Robert

2013-08-01

Population-based studies suggest the m.3243A>G mutation in MTTL1 is the most common disease-causing mtDNA mutation, with a carrier rate of 1 in 400 people. The m.3243A>G mutation is associated with several clinical syndromes including mitochondrial encephalopathy lactic acidosis and stroke-like episodes (MELAS), maternally inherited deafness and diabetes (MIDD) and progressive external ophthalmoplegia (PEO). Many patients affected by this mutation exhibit a clinical phenotype that does not fall within accepted criteria for the currently recognised classical mitochondrial syndromes. We have defined the phenotypic spectrum associated with the m.3243A>G mtDNA mutation in 129 patients, from 83 unrelated families, recruited to the Mitochondrial Disease Patient Cohort Study UK. 10% of patients exhibited a classical MELAS phenotype, 30% had MIDD, 6% MELAS/MIDD, 2% MELAS/chronic PEO (CPEO) and 5% MIDD/CPEO overlap syndromes. 6% had PEO and other features of mitochondrial disease not consistent with another recognised syndrome. Isolated sensorineural hearing loss occurred in 3%. 28% of patients demonstrated a panoply of clinical features, which were not consistent with any of the classical syndromes associated with the m.3243A>G mutation. 9% of individuals harbouring the mutation were clinically asymptomatic. Following this study we propose guidelines for screening and for the management of confirmed cases.

Team building: electronic management-clinical translational research (eM-CTR) systems.

PubMed

Cecchetti, Alfred A; Parmanto, Bambang; Vecchio, Marcella L; Ahmad, Sjarif; Buch, Shama; Zgheib, Nathalie K; Groark, Stephen J; Vemuganti, Anupama; Romkes, Marjorie; Sciurba, Frank; Donahoe, Michael P; Branch, Robert A

2009-12-01

Classical drug exposure: response studies in clinical pharmacology represent the quintessential prototype for Bench to Bedside-Clinical Translational Research. A fundamental premise of this approach is for a multidisciplinary team of researchers to design and execute complex, in-depth mechanistic studies conducted in relatively small groups of subjects. The infrastructure support for this genre of clinical research is not well-handled by scaling down of infrastructure used for large Phase III clinical trials. We describe a novel, integrated strategy, whose focus is to support and manage a study using an Information Hub, Communication Hub, and Data Hub design. This design is illustrated by an application to a series of varied projects sponsored by Special Clinical Centers of Research in chronic obstructive pulmonary disease at the University of Pittsburgh. In contrast to classical informatics support, it is readily scalable to large studies. Our experience suggests the culture consequences of research group self-empowerment is not only economically efficient but transformative to the research process.

Symptomatic thoracic spinal cord herniation: case series and technical report.

PubMed

Hawasli, Ammar H; Ray, Wilson Z; Wright, Neill M

2014-09-01

Idiopathic spinal cord herniation (ISCH) is an uncommon condition located predominantly in the thoracic spine and often associated with a remote history of a major traumatic injury. ISCH has an incompletely described presentation and unknown etiology. There is no consensus on the treatment algorithm and surgical technique, and there are few data on clinical outcomes. In this case series and technical report, we describe the atypical myelopathy presentation, remote history of traumatic injury, radiographic progression, treatment, and outcomes of 5 patients treated at Washington University for symptomatic ISCH. A video showing surgical repair is presented. In contrast to classic compressive myelopathy symptomatology, ISCH patients presented with an atypical myelopathy, characterized by asymmetric motor and sensory deficits and early-onset urinary incontinence. Clinical deterioration correlated with progressive spinal cord displacement and herniation observed on yearly spinal imaging in a patient imaged serially because of multiple sclerosis. Finally, compared with compressive myelopathy in the thoracic spine, surgical treatment of ISCH led to rapid improvement despite a long duration of symptoms. Symptomatic ISCH presents with atypical myelopathy and slow temporal progression and can be successfully managed with surgical repair.

Spectrum of Celiac disease in Paediatric population: Experience of Tertiary Care Center from Pakistan.

PubMed

Aziz, Danish Abdul; Kahlid, Misha; Memon, Fozia; Sadiq, Kamran

2017-01-01

To determine clinical features and relevant laboratory investigations of patient with celiac disease (CD) and comparing classical celiac disease (CCD) with Non-diarrheal celiac disease (NDCD). This is a five years retrospective study conducted at The Aga Khan University Hospital Karachi, Pakistan from January 2010 to December 2015, enrolling children from one year to 15 years of either gender diagnosed as celiac disease in accordance with revised ESPGHAN criteria. Biopsy samples with grade 2 or more on Modified Marsh Classification were considered as consistent with celiac disease. Celiac patients were categorized into Classical celiac disease (with Chronic Diarrhea) and non-diarrheal celiac disease (Atypical celiac) and their clinical features and relevant laboratory investigations were documented. Total 66 patients were selected with celiac disease according to inclusion criteria, 39 (59.09%) patients were labeled as CCD and 27 (40.91%) patients were labeled as NDCD. Marsh grading 3a and above were more marked in CCD as compared to NDCD. Mean titer for Tissue transglutaminase antibodies (TTG) were higher in CCD group in comparison to NDCD group. In CCD, the most common clinical presentations were abdominal distension whereas in NDCD, the most remarkable features were recurrent abdominal pain (62.9%). Frequency of failure to thrive is significantly high in CCD (82.05%) but patients merely with short stature were more common in NDCD (33.3%). Refractory anemia was present in 66.6% patients in NDCD group and 41.1% patients in CCD group. 74.3% patients in CCD group were vitamin D deficient whereas 85% patient had vitamin D deficiency in NDCD group (p= 0.03). NDCD is not uncommon in our population. Recurrent abdominal pain, failure to thrive or patients only with short stature and refractory anemia are prominent features in NCDC group whereas abdominal distension, failure to thrive and recurrent abdominal pain were noticeable features in CCD. High grade histopathology and raised antibodies titer is hallmark of CCD. Vitamin D deficiency is almost equally present in both groups.

Aesthetic Diagnosis in Gestalt Therapy †

PubMed Central

Roubal, Jan; Francesetti, Gianni; Gecele, Michela

2017-01-01

The diagnostic process in psychotherapy using the aesthetic evaluation is described in this article. Unlike the classical diagnostic process, which presents a result of comparing clinicians´ observations with a diagnostic system (DSM, ICD, etc.), the aesthetic evaluation is a pre-reflexive, embodied, and preverbal process. A Gestalt Therapy theoretical frame is used to introduce a concept of the aesthetic diagnostic process. During this process, the clinicians use their own here-and-now presence, which takes part in the co-creation of the shared relational field during the therapeutic session. A specific procedure of the aesthetic evaluation is introduced. The clinical work with depressed clients is presented to illustrate this perspective. PMID:29039752

Cantharidin poisoning due to "Blister beetle" ingestion.

PubMed

Tagwireyi, D; Ball, D E; Loga, P J; Moyo, S

2000-12-01

Cantharidin, the active ingredient of "Spanish Fly", is contained in a number of insects collectively called blister beetles and is a well known toxin and vesicant. We report on a case of ingestion of Mylabris dicincta ("Blister beetle") in Zimbabwe by a 4 year old girl. The ingested beetles were probably mistaken for the edible Eulepida mashona. She presented with many of the classic signs and symptoms of cantharidin poisoning including haematuria and abdominal pains. This was recognised only after consultation with the drug information centre. She was managed conservatively, recovered and was discharged after 9 days. A overview of the clinical effects of cantharidin toxicity and its treatment is presented.

Descriptive analysis of breast cancer in African-American women at Howard University Hospital, 1960-1987.

PubMed Central

Williams, R.; Laing, A. E.; Demenais, F.; Kissling, G.; Gause, B. L.; Chen, V.; Bonney, G.

1993-01-01

This article describes breast cancer cases seen at the Howard University Hospital from 1960 through 1987 using information from the database of the Tumor Registry, established in 1960. Clinical information at presentation is presented as well as a description of reproductive and demographic characteristics. Pre- and postmenopausal women are compared, revealing differences in reproductive experience. This may contribute to the increasing incidence of breast cancer seen among younger women in recent years. This is of particular interest because the classic excess of nulliparous women among breast cancer cases is not seen among the population described here. PMID:8107157

Benefits of object-oriented models and ModeliChart: modern tools and methods for the interdisciplinary research on smart biomedical technology.

PubMed

Gesenhues, Jonas; Hein, Marc; Ketelhut, Maike; Habigt, Moriz; Rüschen, Daniel; Mechelinck, Mare; Albin, Thivaharan; Leonhardt, Steffen; Schmitz-Rode, Thomas; Rossaint, Rolf; Autschbach, Rüdiger; Abel, Dirk

2017-04-01

Computational models of biophysical systems generally constitute an essential component in the realization of smart biomedical technological applications. Typically, the development process of such models is characterized by a great extent of collaboration between different interdisciplinary parties. Furthermore, due to the fact that many underlying mechanisms and the necessary degree of abstraction of biophysical system models are unknown beforehand, the steps of the development process of the application are iteratively repeated when the model is refined. This paper presents some methods and tools to facilitate the development process. First, the principle of object-oriented (OO) modeling is presented and the advantages over classical signal-oriented modeling are emphasized. Second, our self-developed simulation tool ModeliChart is presented. ModeliChart was designed specifically for clinical users and allows independently performing in silico studies in real time including intuitive interaction with the model. Furthermore, ModeliChart is capable of interacting with hardware such as sensors and actuators. Finally, it is presented how optimal control methods in combination with OO models can be used to realize clinically motivated control applications. All methods presented are illustrated on an exemplary clinically oriented use case of the artificial perfusion of the systemic circulation.

Congenital adrenal hyperplasia clinical characteristics and genotype in newborn, childhood and adolescence.

PubMed

Pasqualini, Titania; Alonso, Guillermo; Tomasini, Rosangela; Galich, Ana Maria; Buzzalino, Noemi; Fernandez, Cecilia; Minutolo, Carolina; Alba, Liliana; Dain, Liliana

2007-01-01

Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency is a disorder which can adopt three clinical expressions: two classical forms -salt-wasting (SW), with residual enzymatic activity (EA) < or = 1% and simple virilizing (SV), with EA 1-2%- and a mild late onset or nonclassical (NC) form, with EA 10-60%. Our objective is to describe clinical characteristics, growth, and bone mass in a group of patients affected by 21-hydroxylase deficiency. Besides, molecular genetics studies were performed in patients, and also when available in their parents and siblings. Nine patients with neonatal diagnosis and 8 with pre or postpubertal diagnosis were studied. Analyses of 10-point mutations in the CYP21A2 gene were performed. We found that all the patients with the classical expression, except one with a de novo mutation R356W in one allele, were fully genotyped with predictive < 2% EA mutations. Signs of hyperandrogenism were present in 5/6 NC patients; one was diagnosed by searching for mutations in asymptomatic siblings. All the NC patients were compound heterozygotes carrying V281L mutation in one allele and a predictive low EA in the other, except for one not yet determined. In patients with neonatal diagnosis, mean height was low at one year of age, though it showed a significant increase before the onset of puberty. We conclude that neonatal diagnosis of classical CAH allows an adequate follow up enhancing growth. Molecular analyses of all members of an affected family may disclose asymptomatic patients. The presence of de novo mutations, as well as, the presence of mutations with low predicted EA in NC patients reinforces the importance of genotyping for appropriate genetic counseling. In fully genotyped NC patients, the lowest value of ACTH-stimulated 17OHP was 14 ng/ml. Lower cut-off values might overestimate the diagnosis of the NC form.

Codon 141 polymorphisms of the ovine prion protein gene affect the phenotype of classical scrapie transmitted from goats to sheep.

PubMed

Konold, Timm; Phelan, Laura J; Donnachie, Ben R; Chaplin, Melanie J; Cawthraw, Saira; González, Lorenzo

2017-05-04

A study to investigate transmission of classical scrapie via goat milk was carried out in sheep: firstly, lambs were challenged orally with goat scrapie brain homogenate to confirm transmission of scrapie from goats to sheep. In the second study phase, milk from scrapie-infected goats was fed to lambs. Lambs were selected according to their prion protein gene (PRNP) genotype, which was either VRQ/VRQ or ARQ/ARQ, with or without additional polymorphisms at codon 141 (FF 141 , LF 141 or LL 141 ) of the ovine PRNP. This report describes the clinical, pathological and molecular phenotype of goat scrapie in those sheep that progressed to clinical end-stage. Ten sheep (six VRQ/VRQ and four ARQ/ARQ, of which three FF 141 and one LL 141 ) challenged with one of two scrapie brain homogenates, and six pairs of sheep (ARQ, of which five LL 141 and seven LF 141 ) fed milk from six different goats, developed clinical disease, which was characterised by a pruritic (all VRQ/VRQ and LL 141 sheep) or a non-pruritic form (all LF 141 and FF 141 sheep). Immunohistochemical (IHC) examination revealed that the pattern of intra- and extracellular accumulation of disease-associated prion protein in the brain was also dependent on PRNP polymorphisms at codon 141, which was similar in VRQ and LL 141 sheep but different from LF 141 and FF 141 sheep. The influence of codon 141 was also seen in discriminatory Western blot (WB), with LF 141 and FF 141 sheep showing a bovine spongiform encephalopathy-like profile (diminished reactivity with P4 antibody) on brain tissue. However, discriminatory WB in lymphoid tissues, and IHC pattern and profile both in lymphoid and brain tissue was consistent with classical scrapie in all sheep. This study provided further evidence that the clinical presentation and the pathological and molecular phenotypes of scrapie in sheep are influenced by PRNP polymorphisms, particularly at codon 141. Differences in the truncation of disease-associated prion protein between LL 141 sheep and those carrying the F 141 allele may be responsible for these observations.

Surfer’s myelopathy: a rare presentation in a non-surfing setting and review of the literature

PubMed Central

Phan, Kevin; Hariswamy, Soumya; Rao, Prashanth J.

2016-01-01

Background Surfers myelopathy can be a rapidly devastating disease and little is known surrounding the pathophysiology of the condition. Although the classical pattern of illness has been well reported, it has never been observed in a non-surfing setting. Methods A 51-year-old demolition worker presented with acute non-traumatic myelopathy. Clinical examination revealed sensory loss to the level of L2. T2-MRI and MRI-DWI revealed a hyperintense signal suggestive of an ischaemic event. A diagnosis of surfer’s myelopathy was made and he was commenced on steroid therapy. Results Following steroid therapy and fluid management the patient was discharged after 6 days with minor anaethesia but significant overall neurological improvement. Conclusions Diagnosis of SM requires a thorough history, clinical examination and imaging (MRI, MRI-DWI). The patient should be admitted early and investigated. The use of rehabilitation services may be useful if available. PMID:27757436

Surfer's myelopathy: a rare presentation in a non-surfing setting and review of the literature.

PubMed

Maharaj, Monish M; Phan, Kevin; Hariswamy, Soumya; Rao, Prashanth J

2016-09-01

Surfers myelopathy can be a rapidly devastating disease and little is known surrounding the pathophysiology of the condition. Although the classical pattern of illness has been well reported, it has never been observed in a non-surfing setting. A 51-year-old demolition worker presented with acute non-traumatic myelopathy. Clinical examination revealed sensory loss to the level of L2. T2-MRI and MRI-DWI revealed a hyperintense signal suggestive of an ischaemic event. A diagnosis of surfer's myelopathy was made and he was commenced on steroid therapy. Following steroid therapy and fluid management the patient was discharged after 6 days with minor anaethesia but significant overall neurological improvement. Diagnosis of SM requires a thorough history, clinical examination and imaging (MRI, MRI-DWI). The patient should be admitted early and investigated. The use of rehabilitation services may be useful if available.

[Ulcerative contact dermitis caused by premixed concrete (cement burns)].

PubMed

Ancona Alayón; Aranda Martínez, J G

1978-01-01

Cement dermatitis manifests clinically as a chronic dermatitis of irritative character, due to its alkaline nature and as allergic contact dermatitis produced by sensitization to chromium and cobalt occurring as trace elements. the present report deals with a mason without previous dermatitis, presenting bullae, ulcers and necrosis in lower limbs, short time after incidental contact at work, with premixed concrete. The clinical manifestations, such as short evolution, clear limitation to sites in close contact with concrete, negativity to standard patch testing and good prognosis with early treatment, are mentioned. The acute irritant nature of the disease is clear, in opposition to the classical manifestations of cement dermatitis. The need of studies of the chemical properties of this material including pH, alkalinity and the possible roll of additives employed, is part of the strategy for prevention of occupational dermatitis in the building trade, which should include also, information of hazards and proper training in their trade.

Is isoproterenol really required during electrophysiological study in patients with Wolff-Parkinson-White syndrome?

PubMed

Pauriah, Maheshwar; Cismaru, Gabriel; Sellal, Jean-Marc; De Chillou, Christian; Brembilla-Perrot, Béatrice

2013-01-01

We have studied the results of electrophysiological study (EPS) in patients with Wolff-Parkinson-White syndrome (WPW) and spontaneous adverse clinical presentation and determined whether isoproterenol added incremental value. EPS was performed in 63 patients with WPW and adverse clinical presentation at baseline. EPS was repeated after infusion of isoproterenol in 37 patients, including 25 without criteria for a malignant form at baseline. Atrioventricular orthodromic tachycardia was induced 44%, antidromic tachycardia in 11%, atrial fibrillation (AF) in 68% at baseline. At baseline EPS, criteria for a malignant form (AF induction and shortest CL <250 ms) were noted in 60%; tachycardia was not inducible in 16%. All the patients met the criteria for a malignant form after isoproterenol. EPS at baseline missed 16% of patients at risk of life-threatening arrhythmias who had no inducible tachyarrhythmia and 40% without classical criteria for malignant form. Copyright © 2013 Elsevier Inc. All rights reserved.

Submicroscopic deletions at 22q11.2: Variability of the clinical picture and delineation of a commonly deleted region

DOE Office of Scientific and Technical Information (OSTI.GOV)

Lindsay, E.A.; Shaffer, L.G.; Greenberg, F.

DiGeorge anomaly (DGA) and velo-cardio-facial syndrome (VCFS) are frequently associated with monosomy of chromosome region 22q11. Most patients have a submicroscopic deletion, recently estimated to be at least 1-2 Mb. It is not clear whether individuals who present with only some of the features of these conditions have the deletion, and if so, whether the size of the deletion varies from those with more classic phenotypes. We have used fluorescence in situ hybridization (FISH) to assess the deletion status of 85 individuals referred to us for molecular analysis, with a wide range of DGA-like or VCFS-like clinical features. The testmore » probe used was the cosmid sc11.1, which detects two loci about 2 Mb apart in 22q11.2. Twenty-four patients carried the deletion. Of the deleted patients, most had classic DGA or VCFS phenotypes, but 6 deleted patients had mild phenotypes, including 2 with minor facial anomalies and velopharyngeal incompetence as the only presenting signs. Despite the great phenotypic variability among the deleted patients, none had a deletion smaller than the 2-Mb region defined by sc11.1. Smaller deletions were not detected in patients with particularly suggestive phenotypes who were not deleted for sc11.1, even when tested with two other probes from the DGA/VCFS region. 24 refs., 2 figs., 2 tabs.« less

Clinical Interpretations of Patient Experience in a Trial of Psilocybin-Assisted Psychotherapy for Alcohol Use Disorder.

PubMed

Bogenschutz, Michael P; Podrebarac, Samantha K; Duane, Jessie H; Amegadzie, Sean S; Malone, Tara C; Owens, Lindsey T; Ross, Stephen; Mennenga, Sarah E

2018-01-01

After a hiatus of some 40 years, clinical research has resumed on the use of classic hallucinogens to treat addiction. Following completion of a small open-label feasibility study, we are currently conducting a double-blind placebo-controlled clinical trial of psilocybin-assisted treatment of alcohol use disorder. Although treatment effects cannot be analyzed until the study is complete, descriptive case studies provide a useful window into the therapeutic process of psychedelic-assisted treatment of addiction. Here we describe treatment trajectories of three participants in the ongoing trial to illustrate the range of experiences and persisting effects of psilocybin treatment. Although it is difficult to generalize from a few cases, several qualitative conclusions can be drawn from the data presented here. Although participants often find it difficult to describe much of their psilocybin experience, pivotal moments tend to be individualized, extremely vivid, and memorable. Often, the qualitative content extends beyond the clinical problem that is being addressed. The participants discussed in this paper experienced acute and lasting alterations in their perceptions of self, in the quality of their baseline consciousness, and in their relationship with alcohol and drinking. In these cases, experiences of catharsis, forgiveness, self-compassion, and love were at least as salient as classic mystical content. Finally, feelings of increased "spaciousness" or mindfulness, and increased control over choices and behavior were reported following the drug administration sessions. Ultimately, psilocybin-assisted treatment appears to elicit experiences that are extremely variable, yet seem to meet the particular needs of the individual.

Clinical Interpretations of Patient Experience in a Trial of Psilocybin-Assisted Psychotherapy for Alcohol Use Disorder

PubMed Central

Bogenschutz, Michael P.; Podrebarac, Samantha K.; Duane, Jessie H.; Amegadzie, Sean S.; Malone, Tara C.; Owens, Lindsey T.; Ross, Stephen; Mennenga, Sarah E.

2018-01-01

After a hiatus of some 40 years, clinical research has resumed on the use of classic hallucinogens to treat addiction. Following completion of a small open-label feasibility study, we are currently conducting a double-blind placebo-controlled clinical trial of psilocybin-assisted treatment of alcohol use disorder. Although treatment effects cannot be analyzed until the study is complete, descriptive case studies provide a useful window into the therapeutic process of psychedelic-assisted treatment of addiction. Here we describe treatment trajectories of three participants in the ongoing trial to illustrate the range of experiences and persisting effects of psilocybin treatment. Although it is difficult to generalize from a few cases, several qualitative conclusions can be drawn from the data presented here. Although participants often find it difficult to describe much of their psilocybin experience, pivotal moments tend to be individualized, extremely vivid, and memorable. Often, the qualitative content extends beyond the clinical problem that is being addressed. The participants discussed in this paper experienced acute and lasting alterations in their perceptions of self, in the quality of their baseline consciousness, and in their relationship with alcohol and drinking. In these cases, experiences of catharsis, forgiveness, self-compassion, and love were at least as salient as classic mystical content. Finally, feelings of increased “spaciousness” or mindfulness, and increased control over choices and behavior were reported following the drug administration sessions. Ultimately, psilocybin-assisted treatment appears to elicit experiences that are extremely variable, yet seem to meet the particular needs of the individual. PMID:29515439

Statistical analysis of 4 types of neck whiplash injuries based on classical meridian theory.

PubMed

Chen, Yemeng; Zhao, Yan; Xue, Xiaolin; Li, Hui; Wu, Xiuyan; Zhang, Qunce; Zheng, Xin; Wang, Tianfang

2015-01-01

As one component of the Chinese medicine meridian system, the meridian sinew (Jingjin, (see text), tendino-musculo) is specially described as being for acupuncture treatment of the musculoskeletal system because of its dynamic attributes and tender point correlations. In recent decades, the therapeutic importance of the sinew meridian has become revalued in clinical application. Based on this theory, the authors have established therapeutic strategies of acupuncture treatment in Whiplash-Associated Disorders (WAD) by categorizing four types of neck symptom presentations. The advantage of this new system is to make it much easier for the clinician to find effective acupuncture points. This study attempts to prove the significance of the proposed therapeutic strategies by analyzing data collected from a clinical survey of various WAD using non-supervised statistical methods, such as correlation analysis, factor analysis, and cluster analysis. The clinical survey data have successfully verified discrete characteristics of four neck syndromes, based upon the range of motion (ROM) and tender point location findings. A summary of the relationships among the symptoms of the four neck syndromes has shown the correlation coefficient as having a statistical significance (P < 0.01 or P < 0.05), especially with regard to ROM. Furthermore, factor and cluster analyses resulted in a total of 11 categories of general symptoms, which implies syndrome factors are more related to the Liver, as originally described in classical theory. The hypothesis of meridian sinew syndromes in WAD is clearly supported by the statistical analysis of the clinical trials. This new discovery should be beneficial in improving therapeutic outcomes.

Novel evidences of atypical manifestations in cryopyrin-associated periodic syndromes.

PubMed

Bujan-Rivas, Segundo; Basagaña, Maria; Sena, Francisca; Méndez, Maria; Dordal, Maria Teresa; Gonzalez-Roca, Eva; Ruiz-Ortiz, Estibaliz; Mensa-Vilaró, Anna; Plaza, Susana; Modesto, Consuelo; Ordi-Ros, Josep; Yagüe, Jordi; Martínez-Valle, Ferrán; Aróstegui, Juan Ignacio

2017-01-01

Cryopyrin-associated periodic syndromes (CAPS) usually start during infancy as an urticarial-like rash and a marked acute phase response, with additional manifestations appearing during its evolution. The aim of this study was to expand the clinical diversity of CAPS by the description of novel atypical features. Clinical data were collected from patients' medical charts. Sanger sequencing analyzed NLRP3. Response to anti-IL-1 blockade was evaluated by clinical assessments and by measurements of laboratory parameters. Seventeen patients from two families (A and B), carrying the p.Ala439Thr and p.Arg260Trp NLRP3 mutations respectively, were enrolled. The disease was unexpectedly atypical in all members of Family A, with a 16-year-old asymptomatic carrier, and onset in adulthood associated with absence of skin lesions in four affected members. Surprisingly, one patient from each family suffered from severe haemorrhagic cystitis due to AA amyloidosis in the urinary bladder. Members of Family B displayed a classical phenotype, with two patients suffering from olfactive disorders. Our evidence suggests that CAPS may occasionally be presented as a late-onset, recurrent inflammatory disease without urticarial-like rash. In some patients, AA amyloidosis in strange locations like urinary bladder may complicate the clinical course. The response to IL-1 blockade in these atypical CAPS was similar to that described in classical forms. Consequently, we suggest that CAPS should be included in the differential diagnosis of adult patients with unexplained, recurrent inflammatory diseases, and once confirmed, the early initiation of anti-IL-1 blockade will probably prevent the development of life-threatening complications.

Gastrointestinal Diagnosis of Classical Whipple Disease: Clinical, Endoscopic, and Histopathologic Features in 191 Patients

PubMed Central

Günther, Ute; Moos, Verena; Offenmüller, Gabriel; Oelkers, Gerrit; Heise, Walther; Moter, Annette; Loddenkemper, Christoph; Schneider, Thomas

2015-01-01

Abstract Classic Whipple disease (CWD) is a systemic infection caused by Tropheryma whipplei. Different diagnostic tools have been developed over the last decades: periodic acid-Schiff (PAS) staining, T whipplei-specific polymerase chain reaction (PCR), and T whipplei-specific immunohistochemistry (IHC). Despite all these advances, CWD is still difficult to diagnose because of a variety of clinical symptoms and possibly a long time span between first unspecific symptoms and the full-blown clinical picture of the disease. Herein, we report an observational cohort study summarizing epidemiologic data, clinical manifestations, and diagnostic parameters of 191 patients with CWD collected at our institution. Gastrointestinal manifestations are the most characteristic symptoms of CWD affecting 76% of the cohort. Although the small bowel was macroscopically conspicuous in only 27% of cases, 173 (91%) patients presented with characteristic histological changes in small bowel biopsies (in 2 patients, these changes were only seen within the ileum). However, 18 patients displayed normal small bowel histology without typical PAS staining. In 9 of these patients, alternative test were positive from their duodenal specimens (ie, T whipplei-specific PCR and/or IHC). Thus, in 182 patients (95%) a diagnostic hint toward CWD was obtained from small bowel biopsies. Only 9 patients (5%) were diagnosed solely based on positive T whipplei-specific PCR and/or IHC of extraintestinal fluids (eg, cerebrospinal fluid, synovial fluid) or extraintestinal tissue (eg, lymph node, synovial tissue), respectively. Thus, despite efforts to diagnose CWD from alternative specimens, gastroscopy with duodenal biopsy and subsequent histological and molecular–biological examination is the most reliable diagnostic tool for CWD. PMID:25881849

Rett syndrome: EEG presentation.

PubMed

Robertson, R; Langill, L; Wong, P K; Ho, H H

1988-11-01

Rett syndrome, a degenerative neurological disorder of girls, has a classical presentation and typical EEG findings. The electroencephalograms (EEGs) of 7 girls whose records have been followed from the onset of symptoms to the age of 5 or more are presented. These findings are tabulated with the Clinical Staging System of Hagberg and Witt-Engerström (1986). The records show a progressive deterioration in background rhythms in waking and sleep. The abnormalities of the background activity may only become evident at 4-5 years of age or during stage 2--the Rapid Destructive Stage. The marked contrast between waking and sleep background may not occur until stage 3--the Pseudostationary Stage. In essence EEG changes appear to lag behind clinical symptomatology by 1-3 years. An unexpected, but frequent, abnormality was central spikes seen in 5 of 7 girls. They appeared to be age related and could be evoked by tactile stimulation in 2 patients. We hypothesize that the prominent 'hand washing' mannerism may be self-stimulating and related to the appearance of central spike discharges.

DOE Office of Scientific and Technical Information (OSTI.GOV)

Khrennikov, Andrei

We present fundamentals of a prequantum model with hidden variables of the classical field type. In some sense this is the comeback of classical wave mechanics. Our approach also can be considered as incorporation of quantum mechanics into classical signal theory. All quantum averages (including correlations of entangled systems) can be represented as classical signal averages and correlations.

Fano Interference in Classical Oscillators

ERIC Educational Resources Information Center

Satpathy, S.; Roy, A.; Mohapatra, A.

2012-01-01

We seek to illustrate Fano interference in a classical coupled oscillator by using classical analogues of the atom-laser interaction. We present an analogy between the dressed state picture of coherent atom-laser interaction and a classical coupled oscillator. The Autler-Townes splitting due to the atom-laser interaction is analogous to the…

Molecular basis and clinical presentation of classic galactosemia in a Croatian population.

PubMed

Ramadža, Danijela Petković; Sarnavka, Vladimir; Vuković, Jurica; Fumić, Ksenija; Krželj, Vjekoslav; Lozić, Bernarda; Pušeljić, Silvija; Pereira, Hana; Silva, Maria João; Tavares de Almeida, Isabel; Barić, Ivo; Rivera, Isabel

2018-01-26

Classic galactosemia is an autosomal recessive disorder of galactose metabolism caused by severely decreased activity of galactose-1-phosphate uridylyltransferase (GALT) due to pathogenic mutations in the GALT gene. To date more than 330 mutations have been described, with p.Q188R and p.K285N being the most common in Caucasian populations. Although acute manifestations can be fully avoided by a galactose-restricted diet, chronic complications, such as neurological ones, cannot be prevented in a significant number of patients despite compliance with the dietary treatment. A cohort of 16 galactosemic Croatian patients, including one pair of siblings, was studied. Molecular characterization was performed by direct sequence analysis of the GALT gene. Sixteen patients were analyzed and only four different mutations were detected. As expected, p.Q188R and p.K285N were common, accounting for 40% and 37% of unrelated alleles, respectively. The third mutation accounting for 20% of mutant alleles was p.R123X causing a premature stop codon, is thus considered to be severe, which is in accordance with the phenotype presented by the homozygous patient described here. The fourth mutation p.E271D was found in a single allele. More than half of our patients manifested some chronic neurological complications. This is the first report on mutational and phenotypic spectra of classic galactosemia in Croatia that expands the knowledge on the mutational map of the GALT gene across Europe and reveals the genetic homogeneity of the Croatian population.

Tuberculous otitis media: a difficult diagnosis and report of four cases.

PubMed

Vital, Victor; Printza, Athanasia; Zaraboukas, Thomas

2002-01-01

Tuberculous otitis media is a rare disease. Due to the condition's rarity and its usually indolent course, the diagnosis is often delayed. This can lead to irreversible complications, such as permanent hearing loss or facial nerve paralysis. Tuberculosis of the middle ear cleft, as this disease's first presentation, is indeed very rare. Surgery may be carried out prior to diagnosis occasionally, i.e., middle ear exploration for chronic middle ear disease. We present four cases of tuberculous otitis media which occurred as the first presentation of the disease. The patients did not present with the classic symptoms of middle ear tuberculosis. The diagnosis was based on the histology following middle ear exploration for chronic middle ear disease. None of the patients presented any other systemic involvement. We present a review of this disease's clinical symptoms and the diagnostic tests available.

[Comparison of efficacy of heel ulcer prevention between classic padded bandage and polyurethane heel in a medium-stay hospital: randomized controlled trial].

PubMed

Ferrer Solà, Marta; Espaulella Panicot, Joan; Altimires Roset, Jacint; Ylla-Català Borè, Elisenda; Moreno Susi, María

2013-01-01

The aim of the study is to determine the incidence of heel pressure ulcers (UPPT) and to compare the two systems for UPPT prevention: classic padded bandage and polyurethane heel. Prospective intervention study in a medium-long hospital stay of all people admitted that had no UPPT but had a risk of UPPT according to the Braden Scale or clinical judgment. The patients were randomized to prevention with classic padded bandage or polyurethane heel. The outcome variable was the incidence of UPPT for each study group, which was recorded every 15 days or when there were clinical changes. Of the 940 patients evaluated, 409 with a mean age of 80.5 years and 59.1% women,were included in the study. Of these, 78% had Barthel score ≤30; 28.6% dementia; delirium 37.6%; 27.6% diabetes; and 19.6% other UPP. The overall incidence was 2.9% UPPT; 2.49% in the classic padded bandage and 3.37% in the polyurethane heel group (p=0.82). No statistically significant differences were observed between the group with the classical dressing and the group with the polyurethane heel dressing. The use of multiple measures to prevent UPPT achieved a low incidence of these. Copyright © 2011 SEGG. Published by Elsevier Espana. All rights reserved.

Classical Galactosaemia in Ireland: incidence, complications and outcomes of treatment.

PubMed

Coss, K P; Doran, P P; Owoeye, C; Codd, M B; Hamid, N; Mayne, P D; Crushell, E; Knerr, I; Monavari, A A; Treacy, E P

2013-01-01

Newborn screening for the inborn error of metabolism, classical galactosaemia prevents life-threatening complications in the neonatal period. It does not however influence the development of long-term complications and the complex pathophysiology of this rare disease remains poorly understood. The objective of this study was to report the development of a healthcare database (using Distiller Version 2.1) to review the epidemiology of classical galactosaemia in Ireland since initiation of newborn screening in 1972 and the long-term clinical outcomes of all patients attending the National Centre for Inherited Metabolic Disorders (NCIMD). Since 1982, the average live birth incidence rate of classical galactosaemia in the total Irish population was approximately 1:16,476 births. This reflects a high incidence in the Irish 'Traveller' population, with an estimated birth incidence of 1:33,917 in the non-Traveller Irish population. Despite early initiation of treatment (dietary galactose restriction), the long-term outcomes of classical galactosaemia in the Irish patient population are poor; 30.6 % of patients ≥ 6 yrs have IQs <70, 49.6 % of patients ≥ 2.5 yrs have speech or language impairments and 91.2 % of females ≥ 13 yrs suffer from hypergonadotrophic hypogonadism (HH) possibly leading to decreased fertility. These findings are consistent with the international experience. This emphasizes the requirement for continued clinical research in this complex disorder.

"Difficult" Colorectal Polyps - Therapeutic Approach.

PubMed

Alecu, M; Simion, L; Ionescu, S; Brătucu, E; Straja, N D

2015-01-01

Endoscopic polypectomy is the gold standard in the treatment of colorectal polyps. The importance of polypectomy rests primarily on the fact that polyp-type lesions present a high risk of malignant degeneration, colorectal polyps being able, if left unattended therapeutically, to generate a colorectal cancer (CRC) - a lesion with a far more negative prognosis. Although preferable, endoscopic polypectomy of colorectal polyps is not always possible, multiple factors generating difficulties in performing this therapeutic measure. We performed a retrospective study in the First Surgical Clinic of the "Prof. Dr. Alexandu Trestioreanu" Bucharest Oncology Institute, spanning a period of 3 years (2008-2011), in which time 224 patients were diagnosed by colonoscopy with colorectal polyps, of whom 222 patients benefited from endoscopic polypectomy. The aim of the study was to identify "difficult" polyps and to identify the criteria for endoscopic surgery versus classic surgery as a therapeutic indication. Presence of "difficult" polyps was observed in 37.56% of the patients diagnosed with colorectal polyps. In over 88% of cases endoscopic polypectomy was possible, and for the remaining patients classic surgery was the therapeutic solution opted for. Presence of "difficult" polyps generates inconveniences in performing endoscopic polypectomy, increasing the risk of postoperative complication occurrence, as well as the duration of the operation. If the criteria for characterizing polyps as "difficult" are relatively well-established, the choice between endoscopic and classic surgery as a therapeutic measure is left at the free will of the operating surgeon, with the exception of situations in which classic surgery is resorted to for oncological reasons. Celsius.

Minimally invasive procedures in severe acute pancreatitis treatment – assessment of benefits and possibilities of use

PubMed Central

Jackowski, Marek

2014-01-01

Introduction Acute pancreatitis (AP) consists of an extremely varied complex of pathological symptoms and clinical conditions, ranging from mild gastric complaints to multi-organ failure resulting in death. Aim To present the authors’ own experience regarding surgical treatment for pancreatic necrosis complicated by infection using different methods, including classic and laparoscopic methods as well as those combined with percutaneous techniques. Material and methods In the period 2007–2010, 34 patients with the diagnosis of severe AP were treated at the Department of General, Gastroenterological and Oncological Surgery, Collegium Medicum, Nicolaus Copernicus University. In 7 patients classic necrosectomy with repeated peritoneal flushing was performed (type 1), in 5 patients laparotomy with active drainage (type 2), in 12 video-assisted retroperitoneal debridement (type 3), and in 10 only percutaneous drainage methods (type 4). Results Total duration of hospitalisation was from 10 to 192 days. The highest death rate was observed for type 1 procedures. Significant differences with regard to the absolute number of postoperative complications between different groups were not observed; however, their quality varied. Classic methods were used in patients whose general and local condition was more severe. Conclusions When AP and its complications are diagnosed, a suitable method of surgical treatment has to be selected extremely precisely and in an individualised way. Minimally invasive methods used in selected patients provide better outcomes and higher safety superseding classic, open techniques of surgical treatment. PMID:25097683

Using Classic Mystery Stories in Teaching.

ERIC Educational Resources Information Center

Sheldon, Stephen H.; Noronha, Peter A.

1990-01-01

One third-year clinical clerkship in pediatrics has included Sherlock Holmes mysteries in its introductory curriculum, providing students with a model clinical problem-solving process and a list of issues on which they will need information. The nonclinical cases provide an effective and entertaining vehicle for learning clinical reasoning. (MSE)

Adrenal rest tissue in gonads of patients with classical congenital adrenal hyperplasia: multicenter study of 45 French male patients.

PubMed

Pierre, Peggy; Despert, François; Tranquart, François; Coutant, Régis; Tardy, Véronique; Kerlan, Véronique; Sonnet, Emmanuel; Baron, Sabine; Lorcy, Yannick; Emy, Philippe; Delavierre, Dominique; Monceaux, Françoise; Morel, Yves; Lecomte, Pierre

2012-12-01

Several cases of testicular adrenal rest tumours have been reported in men with congenital adrenal hyperplasia (CAH) due to the classical form of 21-hydroxylase deficiency but the prevalence has not been established. The aims of this report were to evaluate the frequency of testicular adrenal rest tissue in this population in a retrospective multicentre study involving eight endocrinology centres, and to determine whether treatment or genetic background had an impact on the occurrence of adrenal rest tissue. Testicular adrenal rest tissue (TART) was sought clinically and with ultrasound examination in forty-five males with CAH due to the classical form of 21-hydroxylase deficiency. When the diagnosis of testicular adrenal rest tumours was sought, good observance of treatment was judged on biological concentrations of 17-hydroxyprogesterone (17OHP), delta4-androstenedione, active renin and testosterone. The results of affected and non-affected subjects were compared. TART was detected in none of the 18 subjects aged 1 to 15years but was detected in 14 of the 27 subjects aged more than 15years. Five patients with an abnormal echography result had no clinical signs. Therapeutic control evaluated at diagnosis of TART seemed less effective when diagnosis was made in patients with adrenal rest tissue compared to TART-free subjects. Various genotypes were observed in patients with or without TART. Due to the high prevalence of TART in classical CAH and the delayed clinical diagnosis, testicular ultrasonography must be performed before puberty and thereafter regularly during adulthood even if the clinical examination is normal. Copyright © 2012 Elsevier Masson SAS. All rights reserved.

Fabry Disease in Families With Hypertrophic Cardiomyopathy: Clinical Manifestations in the Classic and Later-Onset Phenotypes.

PubMed

Adalsteinsdottir, Berglind; Palsson, Runolfur; Desnick, Robert J; Gardarsdottir, Marianna; Teekakirikul, Polakit; Maron, Martin; Appelbaum, Evan; Neisius, Ulf; Maron, Barry J; Burke, Michael A; Chen, Brenden; Pagant, Silvere; Madsen, Christoffer V; Danielsen, Ragnar; Arngrimsson, Reynir; Feldt-Rasmussen, Ulla; Seidman, Jonathan G; Seidman, Christine E; Gunnarsson, Gunnar Th

2017-08-01

The screening of Icelandic patients clinically diagnosed with hypertrophic cardiomyopathy resulted in identification of 8 individuals from 2 families with X-linked Fabry disease (FD) caused by GLA (α-galactosidase A gene) mutations encoding p.D322E (family A) or p.I232T (family B). Familial screening of at-risk relatives identified mutations in 16 family A members (8 men and 8 heterozygotes) and 25 family B members (10 men and 15 heterozygotes). Clinical assessments, α-galactosidase A (α-GalA) activities, glycosphingolipid substrate levels, and in vitro mutation expression were used to categorize p.D322E as a classic FD mutation and p.I232T as a later-onset FD mutation. In vitro expression revealed that p.D322E and p.I232T had α-GalA activities of 1.4% and 14.9% of the mean wild-type activity, respectively. Family A men had markedly decreased α-GalA activity and childhood-onset classic manifestations, except for angiokeratoma and cornea verticillata. Family B men had residual α-GalA activity and developed FD manifestations in adulthood. Despite these differences, all family A and family B men >30 years of age had left ventricular hypertrophy, which was mainly asymmetrical, and had similar late gadolinium enhancement patterns. Ischemic stroke and severe white matter lesions were more frequent among family A men, but neither family A nor family B men had overt renal disease. Family A and family B heterozygotes had less severe or no clinical manifestations. Men with classic or later-onset FD caused by GLA missense mutations developed prominent and similar cardiovascular disease at similar ages, despite markedly different α-GalA activities. © 2017 American Heart Association, Inc.

The core learning objectives education model: an approach to the teaching of core concepts in the clinical clerkship.

PubMed

Rapp, David E; Lyon, Mark B; Orvieto, Marcelo A; Zagaja, Gregory P

2005-10-01

The classical approach to the undergraduate medical clerkship has several limitations, including variability of clinical exposure and method of examination. As a result, the clerkship experience does not ensure exposure to and reinforcement of the fundamental concepts of a given specialty. This article reviews the classic approach to clerkship education within the undergraduate medical education. Specific attention is placed on clinical exposure and clerkship examination. We describe the introduction of the Core Learning Objective (CLO) educational model at the University of Chicago Section of Urology. This model is designed to provide an efficient exposure to and evaluation of core clerkship learning objectives. The CLO model has been successfully initiated, focusing on both technical and clinical skill sets. The proposed model has been introduced with positive initial results and should allow for an efficient approach to the teaching and evaluation of core objectives in clerkship education.

Risk stratification of prostate cancer: integrating multiparametric MRI, nomograms and biomarkers

PubMed Central

Watson, Matthew J; George, Arvin K; Maruf, Mahir; Frye, Thomas P; Muthigi, Akhil; Kongnyuy, Michael; Valayil, Subin G; Pinto, Peter A

2016-01-01

Accurate risk stratification of prostate cancer is achieved with a number of existing tools to ensure the identification of at-risk patients, characterization of disease aggressiveness, prediction of cancer burden and extrapolation of treatment outcomes for appropriate management of the disease. Statistical tables and nomograms using classic clinicopathological variables have long been the standard of care. However, the introduction of multiparametric MRI, along with fusion-guided targeted prostate biopsy and novel biomarkers, are being assimilated into clinical practice. The majority of studies to date present the outcomes of each in isolation. The current review offers a critical and objective assessment regarding the integration of multiparametric MRI and fusion-guided prostate biopsy with novel biomarkers and predictive nomograms in contemporary clinical practice. PMID:27400645

Infantile bilateral glaucoma in a child with ectodermal dysplasia.

PubMed

Callea, Michele; Vinciguerra, Agatino; Willoughby, Colin E; Deroma, Laura; Clarich, Gabriella

2013-01-01

Ectodermal dysplasia is a rare disease which affects at least two ectodermal-derived structures such as hair, nails, skin, sweat glands and teeth. Approximately 200 different conditions have been classified as an ectodermal dysplasia and X-linked hypohidrotic ectodermal dysplasia (XHED) represents the commonest form. Clinically, XHED is characterized by hypotrichosis, hypohidrosis and hypodontia. A variety of ocular manifestations have been reported in XHED, the most common being dryness of eyes due to tear deficiency and instability of the film secondary to the absence of meibomian gland function. Here we report a child with the distinctive clinical features of XHED confirmed with molecular diagnosis who presented with infantile bilateral glaucoma, in addition to the classical ocular involvement in XHED.

Severe neurologic manifestations of fat embolism syndrome in a polytrauma patient.

PubMed

Makarewich, Chris A; Dwyer, Kevin W; Cantu, Robert V

2015-01-01

Fat embolism syndrome (FES) is most commonly diagnosed when the classic triad of respiratory difficulty, neurologic abnormalities, and petechial rash are present in the appropriate clinical setting. Neurologic manifestations can range from headache, confusion, and agitation to stupor and, less commonly, coma. This article describes a case of FES with severe neurologic sequelae without typical pulmonary involvement in a polytrauma patient with proximal humerus and L1 compression fractures. The case highlights the importance of considering FES in the patient with deteriorating mental status in the setting of multiple fractures, particularly in the absence of other characteristic clinical findings. Early recognition allows for the anticipation of other complications, such as respiratory distress and the potential need for mechanical ventilation.

Intermittent maple syrup urine disease: two case reports.

PubMed

Axler, Olof; Holmquist, Peter

2014-02-01

The presenting symptoms and clinical course of 2 cases of intermittent maple syrup urine disease (MSUD) are described. Intermittent MSUD is a potentially life-threatening metabolic disorder caused by a deficiency of branched-chain α-keto acid dehydrogenase, the enzyme complex that decarboxylates the 3 branched-chain amino acids. In contrast to classic MSUD, children with the intermittent form show normal development with normal intelligence and, when asymptomatic, normal levels of branched-chain amino acids. Symptoms usually appear between 5 months and 2 years of age, when a trivial infection such as otitis media or viral gastroenteritis triggers catabolism of muscle protein. Intermittent MSUD should be suspected in cases of common infections with a clinically atypical course, especially in children displaying ataxia or marked drowsiness.

Annular Lichenoid Dermatitis of Youth: A Report of 2 Cases and a Review of the Literature.

PubMed

Vázquez-Osorio, I; González-Sabín, M; Gonzalvo-Rodríguez, P; Rodríguez-Díaz, E

2016-01-01

Annular lichenoid dermatitis of youth is a lichenoid dermatosis of unknown etiology. It mostly affects children and adolescents and has well-defined clinical and histological characteristics that permit a diagnosis. We present 2 new cases of annular lichenoid dermatitis of youth with classical clinical features in 2 girls, aged 2 and 4 years. The histologic findings, however, differed from those reported in the literature in that the lichenoid inflammatory infiltrate was located primarily at the top of the dermal papillae and not at the tips of the rete ridges. In both cases, the lesions regressed spontaneously without treatment. Copyright © 2016 AEDV. Published by Elsevier España, S.L.U. All rights reserved.

Nephropathic Cystinosis Mimicking Bartter Syndrome: a Novel Mutation.

PubMed

Bastug, Funda; Nalcacioglu, Hulya; Ozaltin, Fatih; Korkmaz, Emine; Yel, Sibel

2018-01-01

Cystinosis is a rare autosomal recessive disorder resulting from defective lysosomal transport of cystine due to mutations in the cystinosin lysosomal cystine transporter (CTNS) gene. The clinical phenotype of nephropathic cystinosis is characterized by renal tubular Fanconi syndrome and development of end-stage renal disease during the first decade. Although metabolic acidosis is the classically prominent finding of the disease, a few cases may present with hypokalemic metabolic alkalosis mimicking Bartter syndrome. Bartter-like presentation may lead to delay in diagnosis and initiation of specific treatment for cystinosis. We report a case of a 6-year-old girl initially presenting with the features of Bartter syndrome that was diagnosed 2 years later with nephropathic cystinosis and a novel CTNS mutation.

Severe pediculosis capitus: a case of "crusted lice" with autoeczematization.

PubMed

Connor, Cody J; Selby, John C; Wanat, Karolyn A

2016-03-16

Pediculosis humanus capitus infestations are common and classically present with intense pruritus of the scalp. Although many treatment options are available, lice are becoming more resistant to conventional therapies and severe clinical presentations are bound to become more prevalent. We present a case of treatment-resistant pediculosis capitus resulting in diffuse autoeczematization of the torso and extremities and severe crusting and scaling of the scalp, which we called "crusted lice." This eruption differs from the well-described id reaction known as "pediculid" and represents a more dramatic manifestation of rampant infestation. This paper provides an up-to-date review of treatment options available for pediculosis humanus capitus, including newer medications like the ones that eventually led to resolution of our patient's extreme infestation.

Relationship between islet autoantibody status and the clinical characteristics of children and adults with incident type 1 diabetes in a UK cohort.

PubMed

Bravis, Vassiliki; Kaur, Akaal; Walkey, Helen C; Godsland, Ian F; Misra, Shivani; Bingley, Polly J; Williams, Alistair J K; Dunger, David B; Dayan, Colin M; Peakman, Mark; Oliver, Nick S; Johnston, Desmond G

2018-04-04

To describe the characteristics of children and adults with incident type 1 diabetes in contemporary, multiethnic UK, focusing on differences between the islet autoantibody negative and positive. Observational cohort study. 146 mainly secondary care centres across England and Wales. 3312 people aged ≥5 years were recruited within 6 months of a clinical diagnosis of type 1 diabetes via the National Institute for Health Research Clinical Research Network. 3021 were of white European ethnicity and 291 (9%) were non-white. There was a small male predominance (57%). Young people <17 years comprised 59%. Autoantibody status and characteristics at presentation. The majority presented with classical osmotic symptoms, weight loss and fatigue. Ketoacidosis was common (42%), especially in adults, and irrespective of ethnicity. 35% were overweight or obese. Of the 1778 participants who donated a blood sample, 85% were positive for one or more autoantibodies against glutamate decarboxylase, islet antigen-2 and zinc transporter 8. Presenting symptoms were similar in the autoantibody-positive and autoantibody-negative participants, as was the frequency of ketoacidosis (43%vs40%, P=0.3). Autoantibody positivity was less common with increasing age (P=0.0001), in males compared with females (82%vs90%, P<0.0001) and in people of non-white compared with white ethnicity (73%vs86%, P<0.0001). Body mass index was higher in autoantibody-negative adults than autoantibody-positive adults (median, IQR 25.5, 23.1-29.2vs23.9, 21.4-26.7 kg/m 2 ; P=0.0001). Autoantibody-negative participants were more likely to have a parent with diabetes (28%vs16%, P<0.0001) and less likely to have another autoimmune disease (4%vs8%, P=0.01). Most people assigned a diagnosis of type 1 diabetes presented with classical clinical features and islet autoantibodies. Although indistinguishable at an individual level, autoantibody-negative participants as a group demonstrated features more typically associated with other diabetes subtypes. ISRCTN66496918; Pre-results. © Article author(s) (or their employer(s) unless otherwise stated in the text of the article) 2018. All rights reserved. No commercial use is permitted unless otherwise expressly granted.

Aggressive Angiomyolipomas: the Clandestine Epithelioid Variant

PubMed Central

Maré, Anton; Wickramasinghe, Shehan; Ilie, Victor; Mulcahy, Maurice

2016-01-01

Epithelioid angiomyolipoma is a rare mesenchymal derived neoplasm of the kidney. Thought to be a variant of classical angiomyolipoma, a benign tumour, its malignant potential has been highlighted by case reports of loco-regional and distant metastasis. Given the potentially adverse clinical course associated with epithelioid angiomyolipoma compared to classical angiomyolipoma, the distinction and comprehensive histological characterisation of this rare entity is essential. PMID:26989374

Aggressive Angiomyolipomas: the Clandestine Epithelioid Variant.

PubMed

Maré, Anton; Wickramasinghe, Shehan; Ilie, Victor; Mulcahy, Maurice

2016-02-01

Epithelioid angiomyolipoma is a rare mesenchymal derived neoplasm of the kidney. Thought to be a variant of classical angiomyolipoma, a benign tumour, its malignant potential has been highlighted by case reports of loco-regional and distant metastasis. Given the potentially adverse clinical course associated with epithelioid angiomyolipoma compared to classical angiomyolipoma, the distinction and comprehensive histological characterisation of this rare entity is essential.

Sporotrichosis in Rio de Janeiro, Brazil: Sporothrix brasiliensis Is Associated with Atypical Clinical Presentations

PubMed Central

Almeida-Paes, Rodrigo; de Oliveira, Manoel Marques Evangelista; Freitas, Dayvison Francis Saraiva; do Valle, Antônio Carlos Francesconi; Zancopé-Oliveira, Rosely Maria; Gutierrez-Galhardo, Maria Clara

2014-01-01

Background There have been several recent changes in the taxonomy of Sporothrix schenckii as well as new observations regarding the clinical aspects of sporotrichosis. In this study, we determined the identification of the Sporothrix species associated with both classic and unusual clinical aspects of sporotrichosis observed in the endemic area of sporotrichosis in Rio de Janeiro, Brazil. Methodology/Principal Findings To verify whether S. brasiliensis is associated with clinical manifestations of sporotrichosis, a cross-sectional study was performed in which Sporothrix isolates from 50 patients with different clinical manifestations were analyzed and their isolates were studied by phenotypic and genotypic methods. Data from these patients revealed a distinct clinical picture and therapeutic response in infections caused by Sporothrix brasiliensis (n = 45) compared to patients with S. schenckii sensu stricto (n = 5). S. brasiliensis was associated with disseminated cutaneous infection without underlying disease, hypersensitivity reactions, and mucosal infection, whereas patients with S. schenckii presented with less severe and more often localized disease, similar to the majority of previously described sporotrichosis cases. Interestingly, S. brasiliensis-infected patients overall required shorter durations of itraconazole (median 16 weeks) compared to the individuals with S. schenckii (median 24 weeks). Conclusions/Significance These findings suggest that Sporothrix species are linked to different clinical manifestations of sporotrichosis and that S. brasiliensis is effectively treated with oral itraconazole. PMID:25233227

False fracture of the penis: Different pathology but similar clinical presentation and management.

PubMed

Kurkar, Adel; Elderwy, Ahmad A; Orabi, Hazem

2014-01-01

Penile fracture is the most common presentation of acute penis. Rupture of the superficial dorsal penile vein (s) may mimic penile fractures with similar clinical presentation but with intact corporeal bodies. Our aim of the study is to highlight superficial dorsal penile vein (s) injury as true emergency with better prognosis. Sixty-eight patients with suspected penile fractures presented to our hospital between June 2007 and January 2013. Out of these, 11 patients showed intact tunica albuginea on exploration with injured dorsal penile vein (s) identified. Records of such 11 cases were reviewed regarding age, etiology, symptoms, physical signs, findings of surgical exploration and post-operative erectile function. All 11 patients were injured during sexual intercourse and presented with penile swelling and ecchymosis and gradual detumescence. Mild penile pain was encountered in 5 cases and the "snap" sound was noted in 2 cases. Examination revealed no localized tenderness, or tunical defect. All the patients regained penile potency without deformity after surgical ligation of the severed vessels. One patient developed penile hypoesthesia. Although the classic "snap" sound and immediate detumescence are usually lacking in the symptomology of dorsal penile vein rupture, its clinical presentation can be indistinguishable from true penile fracture. Surgical exploration is still required to avoid missing tunical tear with possible future complications. The long-term outcome and prognosis are excellent.

False fracture of the penis: Different pathology but similar clinical presentation and management

PubMed Central

Kurkar, Adel; Elderwy, Ahmad A.; Orabi, Elderwy

2014-01-01

Introduction: Penile fracture is the most common presentation of acute penis. Rupture of the superficial dorsal penile vein (s) may mimic penile fractures with similar clinical presentation but with intact corporeal bodies. Our aim of the study is to highlight superficial dorsal penile vein (s) injury as true emergency with better prognosis. Subjects and Methods: Sixty-eight patients with suspected penile fractures presented to our hospital between June 2007 and January 2013. Out of these, 11 patients showed intact tunica albuginea on exploration with injured dorsal penile vein (s) identified. Records of such 11 cases were reviewed regarding age, etiology, symptoms, physical signs, findings of surgical exploration and post-operative erectile function. Results: All 11 patients were injured during sexual intercourse and presented with penile swelling and ecchymosis and gradual detumescence. Mild penile pain was encountered in 5 cases and the “snap” sound was noted in 2 cases. Examination revealed no localized tenderness, or tunical defect. All the patients regained penile potency without deformity after surgical ligation of the severed vessels. One patient developed penile hypoesthesia. Conclusion: Although the classic “snap” sound and immediate detumescence are usually lacking in the symptomology of dorsal penile vein rupture, its clinical presentation can be indistinguishable from true penile fracture. Surgical exploration is still required to avoid missing tunical tear with possible future complications. The long-term outcome and prognosis are excellent. PMID:24669117

[Clinical features and prognostic factors of meningococcal disease: a case series study in Chile during the 2012-2013 outbreak].

PubMed

Matute, Isabel; Olea, Andrea; López, Darío; Loayza, Sergio; Nájera, Manuel; González, Claudia; Poffald, Lucy; Hirmas, Macarena; Delgado, Iris; Pedroni, Elena; Alfaro, Tania; Gormaz, Ana María; Sanhueza, Gabriel; Vial, Pablo; Dabanch, Jeannette; Gallegos, Doris; Aguilera, Ximena

2015-10-01

Meningococcal disease (MD) is a major global problem because of its case fatality rate and sequels. Since 2012 cases of serogroup W have increased in Chile, with nonspecific clinical presentation, high case fatality rate and serious consequences. To characterize the evolution and outcome of MD cases between January 2012 and March 2013 in Chile. Case series considering 149 MD cases of 7 regions. A questionnaire was applied and clinical records were reviewed, including individual, agent, clinical course and healthcare process variables. The analysis allowed to obtain estimates of the OR as likelihood of dying. 51.5% was meningococcemia, the case fatality rate reached 27%, prevailing serogroup W (46.6%). Factors that increased the probability of dying: > age, belonging to indigenous people, having lived a stressful event, having diarrhea, impaired consciousness, cardiovascular symptoms, low oxygen saturation and low Glasgow coma scale score. The case fatality rate exceeded normal levels and was higher in serogroup W. Increasing in this serogroup, associated to the increased presence of nonspecific symptoms or rapid progression to septicemia, hit a health system accustomed to more classic meningococcal disease presentation, which could partly explain the observed increased fatality rate.

Modern Radiotherapy Concepts and the Impact of Radiation on Immune Activation

PubMed Central

Deloch, Lisa; Derer, Anja; Hartmann, Josefin; Frey, Benjamin; Fietkau, Rainer; Gaipl, Udo S.

2016-01-01

Even though there is extensive research carried out in radiation oncology, most of the clinical studies focus on the effects of radiation on the local tumor tissue and deal with normal tissue side effects. The influence of dose fractionation and timing particularly with regard to immune activation is not satisfactorily investigated so far. This review, therefore, summarizes current knowledge on concepts of modern radiotherapy (RT) and evaluates the potential of RT for immune activation. Focus is set on radiation-induced forms of tumor cell death and consecutively the immunogenicity of the tumor cells. The so-called non-targeted, abscopal effects can contribute to anti-tumor responses in a specific and systemic manner and possess the ability to target relapsing tumor cells as well as metastases. The impact of distinct RT concepts on immune activation is outlined and pre-clinical evidence and clinical observations on RT-induced immunity will be discussed. Knowledge on the radiosensitivity of immune cells as well as clinical evidence for enhanced immunity after RT will be considered. While stereotactic ablative body radiotherapy seem to have a beneficial outcome over classical RT fractionation in pre-clinical animal models, in vitro model systems suggest an advantage for classical fractionated RT for immune activation. Furthermore, the optimal approach may differ based on the tumor site and/or genetic signature. These facts highlight that clinical trials are urgently needed to identify whether high-dose RT is superior to induce anti-tumor immune responses compared to classical fractionated RT and in particular how the outcome is when RT is combined with immunotherapy in selected tumor entities. PMID:27379203

Standing of nucleic acid testing strategies in veterinary diagnosis laboratories to uncover Mycobacterium tuberculosis complex members

PubMed Central

Costa, Pedro; Botelho, Ana; Couto, Isabel; Viveiros, Miguel; Inácio, João

2014-01-01

Nucleic acid testing (NAT) designate any molecular approach used for the detection, identification, and characterization of pathogenic microorganisms, enabling the rapid, specific, and sensitive diagnostic of infectious diseases, such as tuberculosis. These assays have been widely used since the 90s of the last century in human clinical laboratories and, subsequently, also in veterinary diagnostics. Most NAT strategies are based in the polymerase chain reaction (PCR) and its several enhancements and variations. From the conventional PCR, real-time PCR and its combinations, isothermal DNA amplification, to the nanotechnologies, here we review how the NAT assays have been applied to decipher if and which member of the Mycobacterium tuberculosis complex is present in a clinical sample. Recent advances in DNA sequencing also brought new challenges and have made possible to generate rapidly and at a low cost, large amounts of sequence data. This revolution with the high-throughput sequencing (HTS) technologies makes whole genome sequencing (WGS) and metagenomics the trendiest NAT strategies, today. The ranking of NAT techniques in the field of clinical diagnostics is rising, and we provide a SWOT (Strengths, Weaknesses, Opportunities, and Threats) analysis with our view of the use of molecular diagnostics for detecting tuberculosis in veterinary laboratories, notwithstanding the gold standard being still the classical culture of the agent. The complementary use of both classical and molecular diagnostics approaches is recommended to speed the diagnostic, enabling a fast decision by competent authorities and rapid tackling of the disease. PMID:25988157

Standing of nucleic acid testing strategies in veterinary diagnosis laboratories to uncover Mycobacterium tuberculosis complex members.

PubMed

Costa, Pedro; Botelho, Ana; Couto, Isabel; Viveiros, Miguel; Inácio, João

2014-01-01

Nucleic acid testing (NAT) designate any molecular approach used for the detection, identification, and characterization of pathogenic microorganisms, enabling the rapid, specific, and sensitive diagnostic of infectious diseases, such as tuberculosis. These assays have been widely used since the 90s of the last century in human clinical laboratories and, subsequently, also in veterinary diagnostics. Most NAT strategies are based in the polymerase chain reaction (PCR) and its several enhancements and variations. From the conventional PCR, real-time PCR and its combinations, isothermal DNA amplification, to the nanotechnologies, here we review how the NAT assays have been applied to decipher if and which member of the Mycobacterium tuberculosis complex is present in a clinical sample. Recent advances in DNA sequencing also brought new challenges and have made possible to generate rapidly and at a low cost, large amounts of sequence data. This revolution with the high-throughput sequencing (HTS) technologies makes whole genome sequencing (WGS) and metagenomics the trendiest NAT strategies, today. The ranking of NAT techniques in the field of clinical diagnostics is rising, and we provide a SWOT (Strengths, Weaknesses, Opportunities, and Threats) analysis with our view of the use of molecular diagnostics for detecting tuberculosis in veterinary laboratories, notwithstanding the gold standard being still the classical culture of the agent. The complementary use of both classical and molecular diagnostics approaches is recommended to speed the diagnostic, enabling a fast decision by competent authorities and rapid tackling of the disease.

Colorectal adenomatous polyposis syndromes: Genetic determinism, clinical presentation and recommendations for care.

PubMed

Buecher, Bruno

2016-02-01

Colorectal adenomatous polyposis constitutes a diverse group of disorders with different modes of inheritance. Molecular diagnosis of this condition has become more complex. In fact, somatic mosaicism for APC mutations now appears to be more frequent than previously thought and rare germline alterations of this gene may be implicated in patients tested negative for "classical" APC mutations (point mutations and large genomic rearrangements). Moreover, the knowledge concerning several aspects of the MUTYH-associated polyposis has improved since its first description in 2002 and germline mutations in new genes have recently been implicated in some cases of unexplained adenomatous polyposis. Genetic testing in probands and their relatives should be conducted in the context of pre- and post-test genetic counseling. The recent advent of New Generation Sequencing (NGS) techniques affords the opportunity to rapidly screen patients for a comprehensive panel of colorectal cancer susceptibility genes in a cost-effective fashion. This type of approach will probably replace the classical sequential approach based on clinical presumptive diagnoses in the near future. The risk of colorectal cancer is very high in affected patients in the absence of appropriate care. Clinical management is complex and should be provided in centers with special expertise in these diseases. This review focuses on the various colorectal adenomatous polyposis syndromes with special attention to more innovative and important aspects. Copyright © 2015 Société Française du Cancer. Published by Elsevier Masson SAS. All rights reserved.

Fungal infections of the mucous membrane.

PubMed

Marques, Silvio Alencar

2010-01-01

A clinical review of three potentially severe fungal diseases, which are characterized in many cases by mucosal involvement, is presented. They are paracoccidioidomycosis, histoplasmosis, and mucormycosis. Mucosal involvement for paracoccidioidomycosis and rhinocerebral mucormycosis is frequent. Thus, oral involvement may provide early clue for diagnosis. In paracoccidioidomycosis, the mucosal lesion classically shows superficial ulcers with granular appearance and hemorrhagic points, usually on lips, palate, and jugal mucosa. In mucormycosis, necrosis of the palate followed for purulent discharge is a hallmark of rhinocerebral disease. Treatment with amphotericin B desoxycholate or the new second-generation triazoles is highly efficacious.

Osteosclerotic myeloma with polyneuropathy and hypocalcemia.

PubMed

Ludescher, C; Grünewald, K; Fend, F; Dietze, O; Thaler, J; Schmid, K W

1989-04-01

A case is presented of a 46-year-old man with multifocal osteosclerotic bone lesions, peripheral polyneuropathy and hypocalcemia. Histologic examination of a bone marrow biopsy disclosed a multiple myeloma. Immunoelectrophoresis revealed a small M-component identified as IgG-lambda. Osteosclerotic myeloma lacking any osteolytic lesions seems to be very rare and shows several different features as compared with classical myeloma. A review of the current literature suggests that multiple myeloma is not a uniform disease but rather a group of clinical syndromes characterized by the special properties of their proliferating plasma cell clones.

[Diagnostic categories and gender: two examples in contemporary Spanish medicine, chlorosis and neurasthenia (1877-1936)].

PubMed

Bernabeu-Mestre, Josep; Santos, Ana Paula Cid; Pellicer, Josep Xavier Esplugues; Galiana-Sánchez, María Eugenia

2008-01-01

Chlorosis and Neurasthenia are two classical examples of pathological dissociations and the difficulties involved in approaching their diagnosis using scientific-naturalistic criteria. In the realm of those difficulties, the study examines the androcentric viewpoint and the ideological perspective of Contemporary Spanish Medicine when addressing the feminine nature and women's pathologies. Moreover, based on the similarities with present-day pain and fatigue syndromes, the study underlines the need to review the clinical approach to these illnesses by attempting to overcome the existing biomedical limitations.

[A new hypothesis for the treatment of amblyopia: the flicker stimulator].

PubMed

Parrozzani, A; Fedriga, P; Ferrari, E; De Vincentiis, L

1984-01-01

A variety of cells are involved in the pathogenesis of amblyopia : ON, OFF, ON-OFF cells, postsynaptic cells, neurons of striate cortex and the select interest of the macula. The need for stimulation of these cells in treating amblyopia forms the theoretical basis of the Flicker stimulator with red monochromatic light (LED, 655 nm). The authors present a clinical investigation on 35 subjects with anisometropic or strabismic amblyopia, before extensive treatment with classic anti-amblyopic techniques without satisfactory improvement obtaining significant statistical results (p less than 0,001).

Word-finding difficulty: a clinical analysis of the progressive aphasias

PubMed Central

Rohrer, Jonathan D.; Knight, William D.; Warren, Jane E.; Fox, Nick C.; Rossor, Martin N.; Warren, Jason D.

2008-01-01

The patient with word-finding difficulty presents a common and challenging clinical problem. The complaint of ‘word-finding difficulty’ covers a wide range of clinical phenomena and may signify any of a number of distinct pathophysiological processes. Although it occurs in a variety of clinical contexts, word-finding difficulty generally presents a diagnostic conundrum when it occurs as a leading or apparently isolated symptom, most often as the harbinger of degenerative disease: the progressive aphasias. Recent advances in the neurobiology of the focal, language-based dementias have transformed our understanding of these processes and the ways in which they breakdown in different diseases, but translation of this knowledge to the bedside is far from straightforward. Speech and language disturbances in the dementias present unique diagnostic and conceptual problems that are not fully captured by classical models derived from the study of vascular and other acute focal brain lesions. This has led to a reformulation of our understanding of how language is organized in the brain. In this review we seek to provide the clinical neurologist with a practical and theoretical bridge between the patient presenting with word-finding difficulty in the clinic and the evidence of the brain sciences. We delineate key illustrative speech and language syndromes in the degenerative dementias, compare these syndromes with the syndromes of acute brain damage, and indicate how the clinical syndromes relate to emerging neurolinguistic, neuroanatomical and neurobiological insights. We propose a conceptual framework for the analysis of word-finding difficulty, in order both better to define the patient's complaint and its differential diagnosis for the clinician and to identify unresolved issues as a stimulus to future work. PMID:17947337

surrosurv: An R package for the evaluation of failure time surrogate endpoints in individual patient data meta-analyses of randomized clinical trials.

PubMed

Rotolo, Federico; Paoletti, Xavier; Michiels, Stefan

2018-03-01

Surrogate endpoints are attractive for use in clinical trials instead of well-established endpoints because of practical convenience. To validate a surrogate endpoint, two important measures can be estimated in a meta-analytic context when individual patient data are available: the R indiv 2 or the Kendall's τ at the individual level, and the R trial 2 at the trial level. We aimed at providing an R implementation of classical and well-established as well as more recent statistical methods for surrogacy assessment with failure time endpoints. We also intended incorporating utilities for model checking and visualization and data generating methods described in the literature to date. In the case of failure time endpoints, the classical approach is based on two steps. First, a Kendall's τ is estimated as measure of individual level surrogacy using a copula model. Then, the R trial 2 is computed via a linear regression of the estimated treatment effects; at this second step, the estimation uncertainty can be accounted for via measurement-error model or via weights. In addition to the classical approach, we recently developed an approach based on bivariate auxiliary Poisson models with individual random effects to measure the Kendall's τ and treatment-by-trial interactions to measure the R trial 2 . The most common data simulation models described in the literature are based on: copula models, mixed proportional hazard models, and mixture of half-normal and exponential random variables. The R package surrosurv implements the classical two-step method with Clayton, Plackett, and Hougaard copulas. It also allows to optionally adjusting the second-step linear regression for measurement-error. The mixed Poisson approach is implemented with different reduced models in addition to the full model. We present the package functions for estimating the surrogacy models, for checking their convergence, for performing leave-one-trial-out cross-validation, and for plotting the results. We illustrate their use in practice on individual patient data from a meta-analysis of 4069 patients with advanced gastric cancer from 20 trials of chemotherapy. The surrosurv package provides an R implementation of classical and recent statistical methods for surrogacy assessment of failure time endpoints. Flexible simulation functions are available to generate data according to the methods described in the literature. Copyright © 2017 Elsevier B.V. All rights reserved.

Thermal and mechanical characteristics of stainless steel, titanium-molybdenum, and nickel-titanium archwires.

PubMed

Kusy, Robert P; Whitley, John Q

2007-02-01

In recent years, nickel-titanium (Ni-Ti) archwires have been developed that undergo thermal transitions. Before the practitioner can fully utilize these products, the effect of those transitions within the clinical application must be understood. The transitional temperatures and mechanical stiffnesses of 3 archwire alloys--stainless steel, beta-titanium, and Ni-Ti--were investigated were for 7 products. Among the nickel-titanium alloys, 2 were thought to represent classic Ni-Ti products and 3 copper (Cu)-Ni-Ti products. By using 2 techniques, differential scanning calorimetry to measure heat flow and dynamic mechanical analysis to measure storage modulus, transition temperatures were evaluated from -30 degrees C to +80 degrees C. With regard to the first technique, no transitions were observed for the stainless steel alloy, the beta-titanium alloy, and 1 of the 2 classic Ni-Ti products. For the other classic Ni-Ti product, however, a martensitic-austenitic transition was suggested on heating, and a reverse transformation was suggested on cooling. As expected, the Cu-Ni-Ti 27, 35, and 40 products manifested austenitic finish temperatures of 29.3 degrees C, 31.4 degrees C, and 37.3 degrees C, respectively, as the enthalpy increased from 2.47 to 3.18 calories per gram. With regard to the second technique, the storage modulus at a low frequency of 0.1 Hz paralleled static mechanical tests for the stainless steel alloy (183 gigapascal [GPa]), the beta-titanium alloy (64 GPa), and the Nitinol Classic (3M Unitek, Monrovia, Calif) product that represented a stable martensitic phase (41 GPa). The remaining 4 Ni-Ti products generally varied from 20 to 35 GPa when the low-temperature or martensitic phase was present and from 60 to 70 GPa after the high-temperature or austenitic phase had formed. From the clinical viewpoint, the Orthonol (Rocky Mountain Orthodontics, Denver, Colo), Cu-Ni-Ti 27, Cu-Ni-Ti 35, and Cu-Ni-Ti 40 (SDS/Ormco, Glendora, Calif) products increased at least twofold in stiffness as temperature increased, best emulating the stiffness of Nitinol Classic below the transformational temperature and the stiffness of TMA (SDS/Ormco, Glendora, Calif) above the transformational temperature. Of the 3 Cu-Ni-Ti products, the least differences were found between Cu-Ni-Ti 27 and Cu-Ni-Ti 35, thereby questioning the justification for 3 similar products.

Clinical relevance of cytogenetics to pediatric practice. Postnatal findings of Patau syndrome – Review of 5 cases

PubMed Central

PLAIASU, Vasilica; OCHIANA, Diana; MOTEI, Gabriela; ANCA, Ioana; GEORGESCU, Adrian

2010-01-01

ABSTRACT Introduction: Patau syndrome (trisomy 13) is one of the most common chromosomal anomalies clinically characterized by the presence of numerous malformations with a limited survival rate for most cases. Babies are usually identified at birth and the diagnosis is confirmed with genetic testing. Materials and methods: In this review we outline the clinical and cytogenetic aspects of trisomy 13 and associated phenotypes for 5 cases analyzed in the last 3 years, referred to our Clinical Genetics Department. For each child cytogenetic analysis was performed to determine the genetic variant; also, the patients were investigated for other associated malformations (cardiac, cerebral, renal, ocular anomalies). Discussion: All 5 cases presented multiple malformations, including some but not all signs of the classical clinical triad suggestive of Patau syndrome. The cytogenetic investigation confirmed for each case the suspected diagnosis and also indicated the specific genetic variant, this being a valuable information for the genetic counselling of the families. Conclusion: The application of genetic analysis can increase diagnosis and prognosis accuracy and have an impact on clinical management. PMID:21977150

Myasthenia Gravis: Unusual Presentations and Diagnostic Pitfalls.

PubMed

Rodolico, Carmelo; Parisi, Daniela; Portaro, Simona; Biasini, Fiammetta; Sinicropi, Stefano; Ciranni, Annamaria; Toscano, Antonio; Messina, Sonia; Musumeci, Olimpia; Vita, Giuseppe; Girlanda, Paolo

2016-08-30

Myasthenia gravis (MG) is an autoimmune disorder presenting with fluctuating, fatigable muscle weakness. Initial symptoms classically involve ocular and proximal limb muscles. Rarely, MG may onset with unusual features, so it can be misdiagnosed with other neuromuscular diseases. To describe unusual and atypical presentations of MG in a large cohort of patients, considering and discussing diagnostic difficulties and pitfalls. We report on 21 out of 508 MG patients, coming to our department in the last 27 years and presenting with atypical or unusual features. The diagnosis was achieved performing a careful clinical examination, a proper neurophysiological assessment, the neostigmine test, the AChR and MuSK antibodies assay and chest CT-scan. Patients with atypical/unusual MG onset were the 4.4% of all MG patients population. We describe seven different clinical categories: asymmetric distal upper limbs weakness, foot drop, isolated triceps brachii weakness and foot drop, post exertional axial weakness with dropped head, acute facial dyplegia, limb-girdle MG and MG with sudden lower limbs weakness and recurrent falls. Atypical and unusual presentations may increase the risk to misdiagnose or delay MG diagnosis. Isolated limb-girdle presentation is the most frequent atypical form in our series.

Two homozygous mutations in the exon 5 of BCKDHB gene that may cause the classic form of maple syrup urine disease.

PubMed

Su, Ling; Lu, Zhikun; Li, Fatao; Shao, Yongxian; Sheng, Huiying; Cai, Yanna; Liu, Li

2017-06-01

Maple syrup urine disease (MSUD) is a rare autosomal recessive genetic disorder caused by defects in the catabolism of the branched-chain amino acids (BCAAs). Classic form of MSUD (CMSUD) is caused by mutations in BCKDHA, BCKDHB, DBT genes mostly. In this study, we analyzed the clinical and genetic characteristics of two patients with CMSUD. Two homozygous mutations, c.517G > T (p.Asp173Tyr) and c.503G > A (p.Arg168His), both in the exon 5 of BCKDHB were detected respectively. The novel mutation p.Asp173Tyr of patient A, inherited from his parents, is predicted to affect conformation of protein by computer analysis. The reported mutation p.Arg168His observed in patient B seemed to occur in a maternal uniparental disomy inheritance manner. Review of related literature revealed that most missense mutations in exon 5 of BCKDHB in homozygous genotype often result in CMSUD because of its incorrect conformation, and exon 5 of BCKDHB might be a susceptible region. Thus the novel homozygous mutation p.Asp173Tyr and the founder homozygous mutation p.Arg168His may be responsible for the clinical presentation of the two CMSUD patients, facilitating the future genetic counselling and prenatal diagnosis.

An unexpected knock on Corrigan’s secret door

PubMed Central

Woywodt, Alexander

2010-01-01

Corrigan’s secret door describes a metaphorical escape route for busy physicians. The term was derived from the successful and exceptionally busy professional life of Irish physician Dominic John Corrigan (1802–80). It is claimed that Corrigan’s outpatient clinic was so busy that he required a secret door in his consulting rooms to escape from the ever-growing queue of eager patients. The origins of this charming story are unknown, and the door may have never existed. However, at present, Corrigan’s secret door is often quoted when busy physicians have their own little ways in surviving a stressful professional life. Generations of British-trained doctors have grown up with Corrigan’s secret door, as it was featured in the introduction of the Oxford Handbook of Clinical Medicine. Accordingly, trainees as well as more senior doctors are often reminded that having a ‘secret door’ is vital in surviving in the medical profession. My own escape is through classical music and the violoncello, in particular. As the name implies, my own secret door is normally invisible to colleagues and patients. This little article is about a patient who found me out, and a reflection on the role of classical music and the cello in my professional life. PMID:25984078

Classical swine fever in pigs: recent developments and future perspectives.

PubMed

Chander, Vishal; Nandi, S; Ravishankar, C; Upmanyu, V; Verma, Rishendra

2014-06-01

Classical swine fever (CSF) is one of the most devastating epizootic diseases of pigs, causing high morbidity and mortality worldwide. The diversity of clinical signs and similarity in disease manifestations to other diseases make CSF difficult to diagnose with certainty. The disease is further complicated by the presence of a number of different strains belonging to three phylogenetic groups. Advanced diagnostic techniques allow detection of antigens or antibodies in clinical samples, leading to implementation of proper and effective control programs. Polymerase chain reaction (PCR)-based methods, including portable real-time PCR, provide diagnosis in a few hours with precision and accuracy, even at the point of care. The disease is controlled by following a stamping out policy in countries where vaccination is not practiced, whereas immunization with live attenuated vaccines containing the 'C' strain is effectively used to control the disease in endemic countries. To overcome the problem of differentiation of infected from vaccinated animals, different types of marker vaccines, with variable degrees of efficacy, along with companion diagnostic assays have been developed and may be useful in controlling and even eradicating the disease in the foreseeable future. The present review aims to provide an overview and status of CSF as a whole with special reference to swine husbandry in India.

Identification and validation of multiple cell surface markers of clinical-grade adipose-derived mesenchymal stromal cells as novel release criteria for good manufacturing practice-compliant production.

PubMed

Camilleri, Emily T; Gustafson, Michael P; Dudakovic, Amel; Riester, Scott M; Garces, Catalina Galeano; Paradise, Christopher R; Takai, Hideki; Karperien, Marcel; Cool, Simon; Sampen, Hee-Jeong Im; Larson, A Noelle; Qu, Wenchun; Smith, Jay; Dietz, Allan B; van Wijnen, Andre J

2016-08-11

Clinical translation of mesenchymal stromal cells (MSCs) necessitates basic characterization of the cell product since variability in biological source and processing of MSCs may impact therapeutic outcomes. Although expression of classical cell surface markers (e.g., CD90, CD73, CD105, and CD44) is used to define MSCs, identification of functionally relevant cell surface markers would provide more robust release criteria and options for quality control. In addition, cell surface expression may distinguish between MSCs from different sources, including bone marrow-derived MSCs and clinical-grade adipose-derived MSCs (AMSCs) grown in human platelet lysate (hPL). In this work we utilized quantitative PCR, flow cytometry, and RNA-sequencing to characterize AMSCs grown in hPL and validated non-classical markers in 15 clinical-grade donors. We characterized the surface marker transcriptome of AMSCs, validated the expression of classical markers, and identified nine non-classical markers (i.e., CD36, CD163, CD271, CD200, CD273, CD274, CD146, CD248, and CD140B) that may potentially discriminate AMSCs from other cell types. More importantly, these markers exhibit variability in cell surface expression among different cell isolates from a diverse cohort of donors, including freshly prepared, previously frozen, or proliferative state AMSCs and may be informative when manufacturing cells. Our study establishes that clinical-grade AMSCs expanded in hPL represent a homogeneous cell culture population according to classical markers,. Additionally, we validated new biomarkers for further AMSC characterization that may provide novel information guiding the development of new release criteria. Use of Autologous Bone Marrow Aspirate Concentrate in Painful Knee Osteoarthritis (BMAC): Clinicaltrials.gov NCT01931007 . Registered August 26, 2013. MSC for Occlusive Disease of the Kidney: Clinicaltrials.gov NCT01840540 . Registered April 23, 2013. Mesenchymal Stem Cell Therapy in Multiple System Atrophy: Clinicaltrials.gov NCT02315027 . Registered October 31, 2014. Efficacy and Safety of Adult Human Mesenchymal Stem Cells to Treat Steroid Refractory Acute Graft Versus Host Disease. Clinicaltrials.gov NCT00366145 . Registered August 17, 2006. A Dose-escalation Safety Trial for Intrathecal Autologous Mesenchymal Stem Cell Therapy in Amyotrophic Lateral Sclerosis. Clinicaltrials.gov NCT01609283 . Registered May 18, 2012.

The MECP2 variant c.925C>T (p.Arg309Trp) causes intellectual disability in both males and females without classic features of Rett syndrome.

PubMed

Schönewolf-Greulich, B; Tejada, M-I; Stephens, K; Hadzsiev, K; Gauthier, J; Brøndum-Nielsen, K; Pfundt, R; Ravn, K; Maortua, H; Gener, B; Martínez-Bouzas, C; Piton, A; Rouleau, G; Clayton-Smith, J; Kleefstra, T; Bisgaard, A-M; Tümer, Z

2016-06-01

Missense MECP2 variants can have various phenotypic effects ranging from a normal phenotype to typical Rett syndrome (RTT). In females, the phenotype can also be influenced by the X-inactivation pattern. In this study, we present detailed clinical descriptions of six patients with a rare base-pair substitution affecting Arg309 at the C-terminal end of the transcriptional repression domain (TRD). All patients have intellectual disability and present with some RTT features, but they do not fulfill the clinical criteria for typical or atypical RTT. Most of the patients also have mild facial dysmorphism. Intriguingly, the mother of an affected male patient is an asymptomatic carrier of this variant. It is therefore likely that the p.(Arg309Trp) variation does not necessarily lead to male lethality, and it results in a wide range of clinical features in females, probably influenced by different X-inactivation patterns in target tissues. © 2016 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

Branchial sinus of the piriform fossa: reappraisal of third and fourth branchial anomalies.

PubMed

James, Adrian; Stewart, Craig; Warrick, Paul; Tzifa, Constance; Forte, Vito

2007-11-01

The objective of this study was to review clinical and embryologic aspects of third and fourth branchial anomalies. Retrospective study. We reviewed the institutional and departmental databases at our institution to identify all cases of third and fourth branchial anomalies encountered from 1992 to 2006. All patient records were examined with respect to demographics, clinical history, and radiologic and pathologic reports. We identified 17 cases of third and fourth branchial anomalies, the largest series of its kind reported to date. The lesions were predominantly left sided, all presenting with neck infection. Fistula formation was iatrogenic, secondary to incision and drainage. Preoperative direct laryngoscopy always revealed a pit within the apex of the piriform fossa. Surgical excision involved ipsilateral thyroidectomy as the lesion passed through the thyroid gland. No lesions following the classical course of a either a third or fourth branchial anomaly were identified. The clinical presentation of branchial sinuses arising from the piriform fossa is more in keeping with derivation from the thymopharyngeal duct (of the third pouch) than the hypothetical course of third and fourth branchial fistulae.

Public classical communication in quantum cryptography: Error correction, integrity, and authentication

DOE Office of Scientific and Technical Information (OSTI.GOV)

Timofeev, A. V.; Pomozov, D. I.; Makkaveev, A. P.

2007-05-15

Quantum cryptography systems combine two communication channels: a quantum and a classical one. (They can be physically implemented in the same fiber-optic link, which is employed as a quantum channel when one-photon states are transmitted and as a classical one when it carries classical data traffic.) Both channels are supposed to be insecure and accessible to an eavesdropper. Error correction in raw keys, interferometer balancing, and other procedures are performed by using the public classical channel. A discussion of the requirements to be met by the classical channel is presented.

Clinical presentations of X-linked retinoschisis in Taiwanese patients confirmed with genetic sequencing

PubMed Central

Liu, Laura; Chen, Ho-Min; Tsai, Shawn; Chang, Tsong-Chi; Tsai, Tzu-Hsun; Yang, Chung-May; Chao, An-Ning; Chen, Kuan-Jen; Kao, Ling-Yuh; Yeung, Ling; Yeh, Lung-Kun; Hwang, Yih-Shiou; Wu, Wei-Chi; Lai, Chi-Chun

2015-01-01

Purpose To investigate the clinical characteristics of X-linked retinoschisis (XLRS) and identify genetic mutations in Taiwanese patients with XLRS. Methods This study included 23 affected males from 16 families with XLRS. Fundus photography, spectral domain optical coherent tomography (SD-OCT), fundus autofluorescence (FAF), and full-field electroretinograms (ERGs) were performed. The coding regions of the RS1 gene that encodes retinoschisin were sequenced. Results The median age at diagnosis was 18 years (range 4–58 years). The best-corrected visual acuity ranged from no light perception to 20/25. The typical spoke-wheel pattern in the macula was present in 61% of the patients (14/23) while peripheral retinoschisis was present in 43% of the patients (10/23). Four eyes presented with vitreous hemorrhage, and two eyes presented with leukocoria that mimics Coats’ disease. Macular schisis was identified with SD-OCT in 82% of the eyes (31/38) while foveal atrophy was present in 18% of the eyes (7/38). Concentric area of high intensity was the most common FAF abnormality observed. Seven out of 12 patients (58%) showed electronegative ERG findings. Sequencing of the RS1 gene identified nine mutations, six of which were novel. The mutations are all located in exons 4–6, including six missense mutations, two nonsense mutations, and one deletion-caused frameshift mutation. Conclusions XLRS is a clinically heterogeneous disease with profound phenotypic inter- and intrafamiliar variability. Genetic sequencing is valuable as it allows a definite diagnosis of XLRS to be made without the classical clinical features and ERG findings. This study showed the variety of clinical features of XLRS and reported novel mutations. PMID:25999676

Carcinoma of the small intestine and colon as a complication of Crohn disease: radiologic manifestation

DOE Office of Scientific and Technical Information (OSTI.GOV)

Kerber, G.W.; Frank, P.H.

1984-03-01

Barium examinations of the large and small bowel were analyzed in six of seven patients who had adenocarcinoma in areas of the intestine affected with Crohn disease; radiographic changes were correlated with clinical, surgical, and pathologic findings. Radiographic examinations were available in five of these patients at the time of diagnosis of tumor. Two of the five patients demonstrated classic radiographic changes associated with carcinoma. In the other three cases, the radiographic changes were atypical for carcinoma and demonstrated progression of disease over time to include more portions of the bowel and presence of fistulas, strictures, and obstruction. The mostmore » frequent clinical presentation of adenocarcinoma in these patients was a recrudescence of symptoms after a long quiescent period. In patients with long-standing Crohn disease plus these clinical features and the above radiographic findings, the diagnosis of a coexisting carcinoma should be considered.« less

Hereditary neuropathy with liability to pressure palsy: two cases of difficult diagnosis.

PubMed

Beydoun, Said R; Cho, Justin

2013-09-01

Hereditary neuropathy with liability to pressure palsies (HNPP) is an inherited autosomal dominant disorder that causes a polyneuropathy with predisposition for involvement at sites of compression and is often underdiagnosed or misdiagnosed due to its heterogeneity in clinical and electrophysiological presentation. We report 2 cases of HNPP, which were initially diagnosed and treated as either an acquired demyelinating disorder or alternative inherited demyelinating disorder. Thorough evaluation of repeat electrodiagnostic studies and genetic testing confirmed the diagnosis of HNPP in both cases. One case showed the classic peripheral myelin protein 22 (PMP22) deletion and the other case showed a previously reported single base pair deletion at Leu145 causing a frameshift mutation at the PMP22 gene. These cases underscore the difficulty of diagnosing HNPP, because of the variations in clinical and electrophysiological findings and reinforce the importance of a combination high index of clinical suspicion, electrodiagnostic testing, and genetic testing to make the diagnosis.

[Traumatic fat embolism syndrome: a case report].

PubMed

Ozyurt, Yaman; Erkal, Hakan; Ozay, Kemal; Arikan, Zuhal

2006-07-01

Fat embolism syndrome (FES) is a known complication of traumatology, especially in long bone fractures. Fat embolic events are most often clinically insignificant and difficult to recognize since clinical manifestations are varied and there is no routine laboratory or radiographic diagnostic tool. Classically, FES presents with the triad of pulmonary distress, mental status changes, and petechial rash 24 to 48 hours after long-bone fracture. We report the intensive care management of a 16-year-old female patient who developed traumatic fat embolism syndrome. Traumatic fat embolism was diagnosed, based on suggestive clinical manifestations, radiographic and laboratory findings and confirmed by the demonstration of arterial hypoxemia in the absence of other disorders. Admission to the intensive care unit, mechanical ventilatory support with positive end-expiratory pressure and supportive therapy leaded to the patient's improvement and she was discharged with planned open reduction and internal fixation.

Clinical aspects of eosinophilic meningitis and meningoencephalitis caused by Angiostrongylus cantonensis, the rat lungworm.

PubMed

Murphy, Gerald S; Johnson, Stuart

2013-06-01

Angiostrongylus Eosinophilic Meningitis is caused by human infection with larvae of the rat lungworm, Angiostrongylus cantonensis. The clinical presentation includes a spectrum of disease, from meningitis through radiculitis, cranial nerve abnormalities, ataxia, encephalitis, coma, and rarely death. The condition is diagnosed by recognizing the triad of: the clinical syndrome, eosinophils in the cerebrospinal fluid or blood, and exposure history. A history of eating raw or poorly cooked snails is classic, but ingestion of other intermediate hosts or unwashed produce (such as lettuce) harboring hosts is not uncommon. Several serologic tests exist but none has yet been fully validated. There is good evidence that a 2 week course of high dose corticosteroids shortens the duration and severity of symptoms. There is somewhat weaker evidence that albendazole reduces symptoms. The combination of prednisolone and albendazole is being used more commonly for treatment. Some suggestions for future research are given.

Angiotensin II type 1 receptor antagonists in the treatment of hypertension in elderly patients: focus on patient outcomes

PubMed Central

Tadevosyan, Artavazd; MacLaughlin, Eric J; Karamyan, Vardan T

2011-01-01

Hypertension in the elderly is one of the main risk factors of cardiovascular and cerebrovascular diseases. Knowledge regarding the mechanisms of hypertension and specific considerations in managing hypertensive elderly through pharmacological intervention(s) is fundamental to improving clinical outcomes. Recent clinical studies in the elderly have provided evidence that angiotensin II type 1 (AT1) receptor antagonists can improve clinical outcomes to a similar or, in certain populations, an even greater extent than other classical arterial blood pressure-lowering agents. This newer class of antihypertensive agents presents several benefits, including potential for improved adherence, excellent tolerability profile with minimal first-dose hypotension, and a low incidence of adverse effects. Thus, AT1 receptor antagonists represent an appropriate option for many elderly patients with hypertension, type 2 diabetes, heart failure, and/or left ventricular dysfunction. PMID:22915967

Semi-quantum Dialogue Based on Single Photons

NASA Astrophysics Data System (ADS)

Ye, Tian-Yu; Ye, Chong-Qiang

2018-02-01

In this paper, we propose two semi-quantum dialogue (SQD) protocols by using single photons as the quantum carriers, where one requires the classical party to possess the measurement capability and the other does not have this requirement. The security toward active attacks from an outside Eve in the first SQD protocol is guaranteed by the complete robustness of present semi-quantum key distribution (SQKD) protocols, the classical one-time pad encryption, the classical party's randomization operation and the decoy photon technology. The information leakage problem of the first SQD protocol is overcome by the classical party' classical basis measurements on the single photons carrying messages which makes him share their initial states with the quantum party. The security toward active attacks from Eve in the second SQD protocol is guaranteed by the classical party's randomization operation, the complete robustness of present SQKD protocol and the classical one-time pad encryption. The information leakage problem of the second SQD protocol is overcome by the quantum party' classical basis measurements on each two adjacent single photons carrying messages which makes her share their initial states with the classical party. Compared with the traditional information leakage resistant QD protocols, the advantage of the proposed SQD protocols lies in that they only require one party to have quantum capabilities. Compared with the existing SQD protocol, the advantage of the proposed SQD protocols lies in that they only employ single photons rather than two-photon entangled states as the quantum carriers. The proposed SQD protocols can be implemented with present quantum technologies.

Characterization and Genetic Variation of Vibrio cholerae Isolated from Clinical and Environmental Sources in Thailand.

PubMed

Siriphap, Achiraya; Leekitcharoenphon, Pimlapas; Kaas, Rolf S; Theethakaew, Chonchanok; Aarestrup, Frank M; Sutheinkul, Orasa; Hendriksen, Rene S

2017-01-01

Cholera is still an important public health problem in several countries, including Thailand. In this study, a collection of clinical and environmental V. cholerae serogroup O1, O139, and non-O1/non-O139 strains originating from Thailand (1983 to 2013) was characterized to determine phenotypic and genotypic traits and to investigate the genetic relatedness. Using a combination of conventional methods and whole genome sequencing (WGS), 78 V. cholerae strains were identified. WGS was used to determine the serogroup, biotype, virulence, mobile genetic elements, and antimicrobial resistance genes using online bioinformatics tools. In addition, phenotypic antimicrobial resistance was determined by the minimal inhibitory concentration (MIC) test. The 78 V. cholerae strains belonged to the following serogroups O1: (n = 44), O139 (n = 16) and non-O1/non-O139 (n = 18). Interestingly, we found that the typical El Tor O1 strains were the major cause of clinical cholera during 1983-2000 with two Classical O1 strains detected in 2000. In 2004-2010, the El Tor variant strains revealed genotypes of the Classical biotype possessing either only ctxB or both ctxB and rstR while they harbored tcpA of the El Tor biotype. Thirty O1 and eleven O139 clinical strains carried CTXϕ (Cholera toxin) and tcpA as well four different pathogenic islands (PAIs). Beside non-O1/non-O139, the O1 environmental strains also presented chxA and Type Three Secretion System (TTSS). The in silico MultiLocus Sequence Typing (MLST) discriminated the O1 and O139 clinical strains from other serogroups and environmental strains. ST69 was dominant in the clinical strains belonging to the 7th pandemic clone. Non-O1/non-O139 and environmental strains showed various novel STs indicating genetic variation. Multidrug-resistant (MDR) strains were observed and conferred resistance to ampicillin, azithromycin, nalidixic acid, sulfamethoxazole, tetracycline, and trimethoprim and harboured variants of the SXT elements. For the first time since 1986, the presence of V. cholerae O1 Classical was reported causing cholera outbreaks in Thailand. In addition, we found that V. cholerae O1 El Tor variant and O139 were pre-dominating the pathogenic strains in Thailand. Using WGS and bioinformatic tools to analyze both historical and contemporary V. cholerae circulating in Thailand provided a more detailed understanding of the V. cholerae epidemiology, which ultimately could be applied for control measures and management of cholera in Thailand.

Characterization and Genetic Variation of Vibrio cholerae Isolated from Clinical and Environmental Sources in Thailand

PubMed Central

Siriphap, Achiraya; Leekitcharoenphon, Pimlapas; Kaas, Rolf S.; Theethakaew, Chonchanok; Aarestrup, Frank M.; Sutheinkul, Orasa; Hendriksen, Rene S.

2017-01-01

Cholera is still an important public health problem in several countries, including Thailand. In this study, a collection of clinical and environmental V. cholerae serogroup O1, O139, and non-O1/non-O139 strains originating from Thailand (1983 to 2013) was characterized to determine phenotypic and genotypic traits and to investigate the genetic relatedness. Using a combination of conventional methods and whole genome sequencing (WGS), 78 V. cholerae strains were identified. WGS was used to determine the serogroup, biotype, virulence, mobile genetic elements, and antimicrobial resistance genes using online bioinformatics tools. In addition, phenotypic antimicrobial resistance was determined by the minimal inhibitory concentration (MIC) test. The 78 V. cholerae strains belonged to the following serogroups O1: (n = 44), O139 (n = 16) and non-O1/non-O139 (n = 18). Interestingly, we found that the typical El Tor O1 strains were the major cause of clinical cholera during 1983–2000 with two Classical O1 strains detected in 2000. In 2004–2010, the El Tor variant strains revealed genotypes of the Classical biotype possessing either only ctxB or both ctxB and rstR while they harbored tcpA of the El Tor biotype. Thirty O1 and eleven O139 clinical strains carried CTXϕ (Cholera toxin) and tcpA as well four different pathogenic islands (PAIs). Beside non-O1/non-O139, the O1 environmental strains also presented chxA and Type Three Secretion System (TTSS). The in silico MultiLocus Sequence Typing (MLST) discriminated the O1 and O139 clinical strains from other serogroups and environmental strains. ST69 was dominant in the clinical strains belonging to the 7th pandemic clone. Non-O1/non-O139 and environmental strains showed various novel STs indicating genetic variation. Multidrug-resistant (MDR) strains were observed and conferred resistance to ampicillin, azithromycin, nalidixic acid, sulfamethoxazole, tetracycline, and trimethoprim and harboured variants of the SXT elements. For the first time since 1986, the presence of V. cholerae O1 Classical was reported causing cholera outbreaks in Thailand. In addition, we found that V. cholerae O1 El Tor variant and O139 were pre-dominating the pathogenic strains in Thailand. Using WGS and bioinformatic tools to analyze both historical and contemporary V. cholerae circulating in Thailand provided a more detailed understanding of the V. cholerae epidemiology, which ultimately could be applied for control measures and management of cholera in Thailand. PMID:28103259

The Warthin-Like Variant of Papillary Thyroid Carcinoma: A Comparison with Classic Type in the Patients with Coexisting Hashimoto's Thyroiditis.

PubMed

Yeo, Min-Kyung; Bae, Ja Seong; Lee, Sohee; Kim, Min-Hee; Lim, Dong-Jun; Lee, Youn Soo; Jung, Chan Kwon

2015-01-01

Background. The Warthin-like variant of papillary thyroid (WLPTC) is a rare subtype of papillary thyroid carcinoma (PTC) resembling Warthin tumors of the salivary glands. Due to its rarity, the clinicopathologic and molecular features of WLPTC remain unclear. Methods. Of the 2,139 patients who underwent surgical treatment for PTC from 2012 to 2013, 40 patients with WLPTC were identified and compared to 200 consecutive patients with classic PTC. BRAF mutation was tested with pyrosequencing. Results. There were no significant differences in age, predilection for women, multifocality, extrathyroidal extension, or lymph node metastasis between WLPTC and classic PTC. However, WLPTCs were more commonly associated with Hashimoto's thyroiditis than classic PTCs (93% versus 36%, resp., P < 0.001) and showed significantly lower rate of BRAF mutation when compared to classic PTCs (65% versus 84%, resp., P = 0.007). In classic PTC, the frequency of BRAF mutations was negatively correlated with coexisting Hashimoto's thyroiditis. When we compared WLPTC and classic PTC in the patients with coexisting Hashimoto's thyroiditis, there were no significant differences in clinicopathologic characteristics or the BRAF mutational rate between the two groups. Conclusions. Patients with WLPTC have similar demographic, clinical, pathologic, and molecular characteristics to those with classic PTC coexisting with Hashimoto's thyroiditis.

The Warthin-Like Variant of Papillary Thyroid Carcinoma: A Comparison with Classic Type in the Patients with Coexisting Hashimoto's Thyroiditis

PubMed Central

Yeo, Min-kyung; Bae, Ja Seong; Lim, Dong-Jun; Lee, Youn Soo

2015-01-01

Background. The Warthin-like variant of papillary thyroid (WLPTC) is a rare subtype of papillary thyroid carcinoma (PTC) resembling Warthin tumors of the salivary glands. Due to its rarity, the clinicopathologic and molecular features of WLPTC remain unclear. Methods. Of the 2,139 patients who underwent surgical treatment for PTC from 2012 to 2013, 40 patients with WLPTC were identified and compared to 200 consecutive patients with classic PTC. BRAF mutation was tested with pyrosequencing. Results. There were no significant differences in age, predilection for women, multifocality, extrathyroidal extension, or lymph node metastasis between WLPTC and classic PTC. However, WLPTCs were more commonly associated with Hashimoto's thyroiditis than classic PTCs (93% versus 36%, resp., P < 0.001) and showed significantly lower rate of BRAF mutation when compared to classic PTCs (65% versus 84%, resp., P = 0.007). In classic PTC, the frequency of BRAF mutations was negatively correlated with coexisting Hashimoto's thyroiditis. When we compared WLPTC and classic PTC in the patients with coexisting Hashimoto's thyroiditis, there were no significant differences in clinicopathologic characteristics or the BRAF mutational rate between the two groups. Conclusions. Patients with WLPTC have similar demographic, clinical, pathologic, and molecular characteristics to those with classic PTC coexisting with Hashimoto's thyroiditis. PMID:25983754

Novel syndrome of cataracts, retinitis pigmentosa, late onset deafness and sperm abnormalities: a new Usher syndrome subtype with X-linked inheritance?

PubMed

Malekpour, Mahdi; Shahidi, Arash; Khorsandi Ashtiani, Mohammad Taghi; Motasaddi Zarandy, Masoud

2007-07-15

Tissues of the auditory, ocular and reproductive systems have some similarities in their protein families and structures. Consequently, syndromes comprising these systems are described. Hearing loss alone is a component of more than 400 known syndromes and is a common nonsyndromic congenital disorder. Here we describe a syndrome in five brothers with the distinctive presentation of late-onset progressive hearing loss, cataracts, retinitis pigmentosa, sperm motility and shape problems in a family from the Kurdish population in Iran. The clinical findings of these patients are presented in detail and compared to the classical Usher syndromes. (c) 2007 Wiley-Liss, Inc

A 27-Year-Old Severely Immunosuppressed Female with Misleading Clinical Features of Disseminated Cutaneous Sporotrichosis

PubMed Central

Patel, Atiyah; Mudenda, Victor; Lakhi, Shabir; Ngalamika, Owen

2016-01-01

Sporotrichosis is a subacute or chronic granulomatous mycosis caused by fungus of the Sporothrix schenckii complex. It is considered to be a rare condition in most parts of the world. It mostly causes cutaneous infection but can also cause multisystemic disease. Unlike most deep cutaneous mycoses which have a primary pulmonary focus, it is usually caused by direct inoculation of the fungus into the skin causing a classical linear, lymphocutaneous nodular eruption. However, atypical presentations of the condition can occur especially in immunosuppressed individuals. We report the case of a severely immunosuppressed female who presented with disseminated cutaneous sporotrichosis which was initially diagnosed and treated as disseminated cutaneous Kaposi's sarcoma. PMID:26881148

A case discussion on presbyacusis.

PubMed

Angadi, Savita S; Kotrannavar, Vijaykumar S

2013-01-01

Presbyacusis is one among the many socio-medical problems, which is considered as a hidden disability. The hearing impairment in elderly people is described as presbyacusis. Hearing problem among elderly people is a major issue and a person with hearing loss may be unable to hear doorbells and alarms, to respond while talking with anyone, etc. All this can make them feel frustrated, lonely, and depressed. It is the third most common chronic condition after arthritis and hypertensive diseases among elders. Hearing loss can be improved by using the hearing aids. Hearing aids work well for some while for others; it may not be a perfect solution due to many reasons such as some people do not buy aids that meet their needs, incorrect amplification adjustments, low custom design, etc. In classics of Ayurveda this ailment has been described as karnabaadhirya under the heading of ear diseases. Karnapurana (Instillation of medicated oil into the external auditory canal) is one of the major treatments for ear diseases explained in classics. Clinical observation has shown its effectiveness in the management of presbyacusis. A case report of 75-year-old male who presented with complaints of reduced hearing and tinnitus in both ears has been presented here.

A case discussion on presbyacusis

PubMed Central

Angadi, Savita S.; Kotrannavar, Vijaykumar S.

2013-01-01

Presbyacusis is one among the many socio-medical problems, which is considered as a hidden disability. The hearing impairment in elderly people is described as presbyacusis. Hearing problem among elderly people is a major issue and a person with hearing loss may be unable to hear doorbells and alarms, to respond while talking with anyone, etc. All this can make them feel frustrated, lonely, and depressed. It is the third most common chronic condition after arthritis and hypertensive diseases among elders. Hearing loss can be improved by using the hearing aids. Hearing aids work well for some while for others; it may not be a perfect solution due to many reasons such as some people do not buy aids that meet their needs, incorrect amplification adjustments, low custom design, etc. In classics of Ayurveda this ailment has been described as karnabaadhirya under the heading of ear diseases. Karnapurana (Instillation of medicated oil into the external auditory canal) is one of the major treatments for ear diseases explained in classics. Clinical observation has shown its effectiveness in the management of presbyacusis. A case report of 75-year-old male who presented with complaints of reduced hearing and tinnitus in both ears has been presented here. PMID:23741163

Overuse Injuries in Professional Ballet: Injury-Based Differences Among Ballet Disciplines.

PubMed

Sobrino, Francisco José; de la Cuadra, Crótida; Guillén, Pedro

2015-06-01

Despite overuse injuries being previously described as the most frequent in ballet, there are no studies on professional dancers providing the specific clinical diagnoses or type of injury based on the discipline. Overuse injuries are the most frequent injuries in ballet, with differences in the type and frequency of injuries based on discipline. Cross-sectional study; Level of evidence, 3. This was a descriptive cross-sectional study performed between January 1, 2005, and October 10, 2010, on injuries occurring in professional dancers from leading Spanish dance companies who practiced disciplines such as classical, neoclassical, contemporary, and Spanish ballet. Data, including type of injury, were obtained from specialized medical services at the Trauma Service, Fremap, Madrid, Spain. A total of 486 injuries were evaluated, a significant number of which were overuse disorders (P < .0001), especially in the most technically demanding discipline of classical ballet (82.60%). Injuries were more frequent among female dancers (75.90%) and classical ballet (83.60%). A statistically significant prevalence of patellofemoral pain syndrome was found in the classical discipline (P = .007). Injuries of the adductor muscles of the thigh (P = .001) and of the low back facet (P = .02) in the Spanish ballet discipline and lateral snapping hip (P = .02) in classical and Spanish ballet disciplines were significant. Overuse injuries were the most frequent injuries among the professional dancers included in this study. The prevalence of injuries was greater for the most technically demanding discipline (classical ballet) as well as for women. Patellofemoral pain syndrome was the most prevalent overuse injury, followed by Achilles tendinopathy, patellar tendinopathy, and mechanical low back pain. Specific clinical diagnoses and injury-based differences between the disciplines are a key factor in ballet.

Laterality Defects Other Than Situs Inversus Totalis in Primary Ciliary Dyskinesia

PubMed Central

Davis, Stephanie D.; Ferkol, Thomas; Dell, Sharon D.; Rosenfeld, Margaret; Olivier, Kenneth N.; Sagel, Scott D.; Milla, Carlos; Zariwala, Maimoona A.; Wolf, Whitney; Carson, Johnny L.; Hazucha, Milan J.; Burns, Kimberlie; Robinson, Blair; Knowles, Michael R.; Leigh, Margaret W.

2014-01-01

BACKGROUND: Motile cilia dysfunction causes primary ciliary dyskinesia (PCD), situs inversus totalis (SI), and a spectrum of laterality defects, yet the prevalence of laterality defects other than SI in PCD has not been prospectively studied. METHODS: In this prospective study, participants with suspected PCD were referred to our multisite consortium. We measured nasal nitric oxide (nNO) level, examined cilia with electron microscopy, and analyzed PCD-causing gene mutations. Situs was classified as (1) situs solitus (SS), (2) SI, or (3) situs ambiguus (SA), including heterotaxy. Participants with hallmark electron microscopic defects, biallelic gene mutations, or both were considered to have classic PCD. RESULTS: Of 767 participants (median age, 8.1 years, range, 0.1-58 years), classic PCD was defined in 305, including 143 (46.9%), 125 (41.0%), and 37 (12.1%) with SS, SI, and SA, respectively. A spectrum of laterality defects was identified with classic PCD, including 2.6% and 2.3% with SA plus complex or simple cardiac defects, respectively; 4.6% with SA but no cardiac defect; and 2.6% with an isolated possible laterality defect. Participants with SA and classic PCD had a higher prevalence of PCD-associated respiratory symptoms vs SA control participants (year-round wet cough, P < .001; year-round nasal congestion, P = .015; neonatal respiratory distress, P = .009; digital clubbing, P = .021) and lower nNO levels (median, 12 nL/min vs 252 nL/min; P < .001). CONCLUSIONS: At least 12.1% of patients with classic PCD have SA and laterality defects ranging from classic heterotaxy to subtle laterality defects. Specific clinical features of PCD and low nNO levels help to identify PCD in patients with laterality defects. TRIAL REGISTRY: ClinicalTrials.gov; No.: NCT00323167; URL: www.clinicaltrials.gov PMID:24577564

Autoimmune acute liver failure: proposed clinical and histological criteria.

PubMed

Stravitz, R Todd; Lefkowitch, Jay H; Fontana, Robert J; Gershwin, M Eric; Leung, Patrick S C; Sterling, Richard K; Manns, Michael P; Norman, Gary L; Lee, William M

2011-02-01

Identifying autoimmune hepatitis as the etiology of acute liver failure (ALF) is potentially important, because administering corticosteroids might avoid the need for liver transplantation. However, clinical and histological criteria of autoimmune ALF (AI-ALF) have not been defined. Liver sections (biopsies and explants) from a 72-patient subset of the ALF Study Group Registry with indeterminate ALF were reviewed by a pathologist blinded to all clinical data and were diagnosed with probable AI-ALF based on four features suggestive of an autoimmune pathogenesis: distinctive patterns of massive hepatic necrosis (present in 42% of sections), presence of lymphoid follicles (32%), a plasma cell-enriched inflammatory infiltrate (63%), and central perivenulitis (65%). Forty-two sections (58%) were considered probable for AI-ALF; this group demonstrated higher serum globulins (3.7 ± 0.2 g/dL versus 3.0 ± 0.2 g/dL; P = 0.037) and a higher prevalence of antinuclear and/or anti-smooth muscle antibodies (73% versus 48%; P = 0.034) compared to those without histology suggestive of probable AI-ALF. Thirty patients concordant for autoantibodies and probable AI-ALF upon histological analysis were more likely to have the classical autoimmune hepatitis phenotype (female predominance [72% versus 48%; P < 0.05], higher globulins [3.9 ± 0.2 g/dL versus 3.0 ± 0.2 g/dL; P < 0.005], and higher incidence of chronic hepatitis in long-term follow-up [67% versus 17%, P = 0.019]) compared to the population without concordant AI-ALF histology and autoantibodies. Patients with indeterminate ALF often have features of autoimmune disease by histological analysis, serological testing, and clinical recurrence during follow-up. In contrast to classical autoimmune hepatitis, histological features of AI-ALF predominate in the centrilobular zone. Copyright © 2010 American Association for the Study of Liver Diseases.

[Choroidal neovascularization followed in a patient with "Multiple Evanescent White Dot Syndrome" (MEWDS) -- a case report].

PubMed

Löw, U; Palmowski, A M; Weich, C-M; Ruprecht, K W

2004-12-01

Since the description of the "multiple evanescent white dot syndrome" (MEWDS) by Jampol et al, choroiditis has been in the focus of interest. But the classical type of MEWDS was an exceptional case in clinical routine. A 48-year-old female presented to our hospital with a sudden unilateral visual acuity decrease and an extension of the blind spot. Ophthalmoscopy and fluorescein angiography revealed typical multiple grey-white chorioretinal patches of the same stage with lesion areas of about 100 - 200 microm compatible with the diagnose of MEWDS. Although visual acuity increased continuously the patient developed a classical choroidal neovascularization within 4 weeks. She was treated with PDT and visual acuity as well as the ophthalmoscopic diagnosis remained stable. In spite of visual improvement in MEWDS, regular control is recommended. In addition we propose to consider the diagnosis of MEWDS if an enlargement of the blind spot and CNV without lesions of the retinal pigment epithelium are diagnosed.

FUS GENE MUTATIONS IN FAMILIAL AND SPORADIC AMYOTROPHIC LATERAL SCLEROSIS

PubMed Central

Rademakers, Rosa; Stewart, Heather; DeJesus-Hernandez, Mariely; Krieger, Charles; Graff-Radford, Neill; Fabros, Marife; Briemberg, Hannah; Cashman, Neil; Eisen, Andrew; Mackenzie, Ian R. A.

2010-01-01

Introduction Mutations in the fused in sarcoma (FUS) gene have recently been found to cause familial amyotrophic lateral sclerosis (FALS). Methods We screened FUS in a cohort of 200 ALS patients [32 FALS and 168 sporadic ALS (SALS)]. Results In one FALS proband, we identified a mutation (p.R521C) that was also present in her affected daughter. Their clinical phenotype was remarkably similar and atypical of classic ALS, with symmetric proximal pelvic and pectoral weakness. Distal weakness and upper motor neuron features only developed late. Neuropathological examination demonstrated FUS-immunoreactive neuronal and glial inclusions in the spinal cord and many extramotor regions, but no TDP-43 pathology. We also identified a novel mutation (p.G187S) in one SALS patient. Overall, FUS mutations accounted for 3% of our non-SOD1, non-TARDBP FALS cases and 0.6% of SALS. Discussion This study demonstrates that the phenotype with FUS mutations extends beyond classical ALS. It suggests there are specific clinicogenetic correlations and provides the first detailed neuropathological description. PMID:20544928

Spinal Neurofibromatosis without Café-au-Lait Macules in Two Families with Null Mutations of the NF1 Gene

PubMed Central

Kaufmann, Dieter; Müller, Ralf; Bartelt, Britta; Wolf, Michael; Kunzi-Rapp, Karin; Hanemann, Clemens Oliver; Fahsold, Raimund; Hein, Christian; Vogel, Walther; Assum, Günter

2001-01-01

Spinal neurofibromatosis (SNF) is considered to be an alternative form of neurofibromatosis, showing multiple spinal tumors and café-au-lait macules. Involvement of the neurofibromatosis type 1 (NF1) locus has been demonstrated, by linkage analysis, for three families with SNF. In one of them, a cosegregating frameshift mutation in exon 46 of the NF1 gene was identified. In the present study, we report four individuals from two families who carry NF1 null mutations that would be expected to cause NF1. Three patients have multiple spinal tumors and no café-au-lait macules, and the fourth has no clinical signs of NF1. In the first family, a missense mutation (Leu2067Pro) in NF1 exon 33 was found, and, in the second, a splice-site mutation (IVS31-5A→G) enlarging exon 32 by 4 bp at the 5′ end was found. The latter mutation has also been observed in an unrelated patient with classical NF1. Both NF1 mutations cause a reduction in neurofibromin of ∼50%, with no truncated protein present in the cells. This demonstrates that typical NF1 null mutations can result in a phenotype that is distinct from classical NF1, showing only a small spectrum of the NF1 symptoms, such as multiple spinal tumors, but not completely fitting the current clinical criteria for SNF. We speculate that this phenotype is caused by an unknown modifying gene that compensates for some, but not all, of the effects caused by neurofibromin deficiency. PMID:11704931

Tropheryma whipplei Infection (Whipple Disease) in the USA.

PubMed

Hujoel, Isabel A; Johnson, David H; Lebwohl, Benjamin; Leffler, Daniel; Kupfer, Sonia; Wu, Tsung-Teh; Murray, Joseph A; Rubio-Tapia, Alberto

2018-03-23

Whipple disease (WD) is an infection caused by the bacterium Tropheryma whipplei (TW). Few cases have been reported in the USA. To report on the demographics, clinical manifestations, diagnostic findings, treatment, and outcomes of TW infection. Cases of TW infection diagnosed from 1995 to 2010 were identified in three US referral centers and from 1995 to 2015 in one. Definite classic WD was defined by positive periodic acid-Schiff (PAS) staining and probable WD by specific positive TW polymerase chain reaction (PCR) of intestinal specimens. Localized infections were defined by a positive TW PCR result from samples of other tissues/body fluids. Among the 33 cases of TW infections, 27 (82%) were male. Median age at diagnosis was 53 years (range 11-75). Diagnosis was supported by a positive TW PCR in 29 (88%) and/or a positive PAS in 16 (48%) patients. Classic WD was the most frequent presentation (n = 18, 55%), with 14 definite and 4 probable cases. Localized infections (n = 15, 45%) affected the central nervous system (n = 7), joints (n = 4), heart (n = 2), eye (n = 1), and skeletal muscle (n = 1). Blood PCR was negative in 9 of 17 (53%) cases at diagnosis. Ceftriaxone intravenously followed by trimethoprim and sulfamethoxazole orally was the most common regimen (n = 23, 70%). Antibiotic therapy resulted in clinical response in 24 (73%). TW infection can present as intestinal or localized disease. Negative small bowel PAS and PCR do not exclude the diagnosis of TW infection, and blood PCR is insensitive for active infection.

Clinical presentation and treatment of septic arthritis in children.

PubMed

Moro-Lago, I; Talavera, G; Moraleda, L; González-Morán, G

The aim of this study is to determine the epidemiological features, clinical presentation, and treatment of children with septic arthritis. A retrospective review was conducted on a total of 141 children with septic arthritis treated in Hospital Universitario La Paz (Madrid) between the years 2000 to 2013. The patient data collected included, the joint affected, the clinical presentation, the laboratory results, the appearance, Gram stain result, and the joint fluid culture, as well as the imaging tests and the treatment. Most (94%) of the patients were less than 2 years-old. The most common location was the knee (52%), followed by the hip (21%). The septic arthritis was confirmed in 53%. No type of fever was initially observed in 49% of them, and 18% had an ESR (mm/h) or CRP (mg/l) less than 30 in the initial laboratory analysis. The joint fluid was purulent in 45% and turbid in 12%. The Gram stain showed bacteria in 4%. The fluid culture was positive in 17%. Staphylococcus aureus was the most common pathogen found, followed by Streptococcus agalactiae, Streptococcus pneumoniae, and Kingella kingae. Antibiotic treatment was intravenous administration for 7 days, followed by 21 days orally. Surgery was performed in 18% of cases. The diagnosis was only confirmed in 53% of the patients. Some of the confirmed septic arthritis did not present with the classical clinical/analytical signs, demonstrating that the traumatologist or paediatrician requires a high initial level of clinical suspicion of the disease. Copyright © 2017 SECOT. Publicado por Elsevier España, S.L.U. All rights reserved.

Development of Bioethics and Clinical Ethics in Bulgaria.

PubMed

Aleksandrova-Yankulovska, Silviya S

2017-03-01

Bioethics and clinical ethics emerged from the classical medical ethics in the 1970s of the 20th century. Both fields are new for the Bulgarian academic tradition. The aims of this paper were to demarcate the subject fields of medical ethics, bioethics, and clinical ethics, to present the developments in the field of medical ethics in Bulgaria, to delineate the obstacles to effective ethics education of medical professionals, and to present the results of the application of an adapted bottom-up methodology for clinical ethics consultation in several clinical units in Bulgaria. Extended literature review and application of an adapted METAP methodology for clinical ethics consultation in six clinical units in the Northern Bulgaria between May 2013 and December 2014. Teaching of medical ethics in Bulgaria was introduced in the 1990s and still stands mainly as theoretical expertise without sufficient dilemma training in clinical settings. Earlier studies revealed need of clinical ethics consultation services in our country. METAP methodology was applied in 69 ethics meetings. In 31.9% of them non-medical considerations affected the choice of treatment and 34.8% resulted in reaching consensus between the team and the patient. Participants' opinion about the meetings was highly positive with 87.7% overall satisfaction. Development of bioethics in Bulgaria follows recent worldwide trends. Several ideas could be applied towards increasing the effectiveness of ethics education. Results of the ethics meetings lead to the conclusion that it is a successful and well accepted approach for clinical ethics consultation with a potential for wider introduction in our medical practice.

RNA isolation from bloodstains collected on FTA cards - application in clinical and forensic genetics.

PubMed

Skonieczna, Katarzyna; Styczyński, Jan; Krenska, Anna; Wysocki, Mariusz; Jakubowska, Aneta; Grzybowski, Tomasz

2016-01-01

Aim of the study: In recent years, RNA analysis has been increasingly used in clinical and forensic genetics. Nevertheless, a major limitation of RNA-based applications is very low RNA stability in biological material, due to the RNAse activity. This highlights the need for improving the methods of RNA collection and storage. Technological approaches such as FTA Classic Cards (Whatman) could provide a solution for the problem of RNA degradation. However, different methods of RNA isolation from FTA cards could have diverse effects on RNA quantity and quality. The purpose of this research was to analyze the utility of three different methods of RNA isolation from peripheral blood collected on FTA Classic Cards (Whatman). The study also aimed at assessing RNA stability in bloodstains deposited on FTA cards. Material and methods: The study was performed on peripheral bloodstains collected from 59 individuals on FTA Classic Cards (Whatman). RNA was isolated with High Pure RNA Isolation Kit (Roche Diagnostics), Universal RNA/miRNA Purification (EURx) and TRIzol Reagent (Life Technologies). RNA was subjected to quantitative analysis followed by reverse transcription and Real - Time PCR reaction. Results: The study has shown that FTA Classic Cards (Whatman) are useful tools for storing bloodstains at room temperature for RNA analysis. Moreover, the method of RNA extraction employing TRIzol Reagent (Life Technologies) provides the highest efficiency and reproducibility for samples stored for no more than 2 years. Conclusions: The FTA cards are suitable for collecting and storing bloodstains for RNA analysis in clinical and forensic genetics.

Factitious Disorder Presenting with Attempted Simulation of Fournier's Gangrene.

PubMed

Tseng, Joseph; Poullos, Peter

2016-09-01

Fournier's gangrene is a severe polymicrobial necrotizing fasciitis of the perineal, genital, or perianal regions. The classic presentation is severe pain and swelling with systemic signs. Crepitus and cutaneous necrosis are often seen. Characteristic CT findings include subcutaneous gas and inflammatory stranding. Unless treated aggressively, patients can rapidly become septic and die. Factitious Disorder is the falsification of one's own of medical or psychological signs and symptoms. Many deceptive methods have been described, from falsely reporting physical or psychological symptoms, to manipulating lab tests, or even injecting or ingesting foreign substances in order to induce illness. We present a case of a 35-year-old man with factitious disorder who attempted to simulate Fournier's gangrene by injecting his scrotum with air and fluid. We will review the clinical presentation and diagnosis of Factitious Disorder, as well as Fournier's gangrene.

Neurological Complications in a Polynesian Traveler with Dengue.

PubMed

Doi, Maegan Lm; Tatsuno, Sydney Y; Singh, Gurdev; Tatsuno, Eric M; Mau, Marjorie M

2017-10-01

In recent times, there has been an increased focus on mosquito-borne Flaviviruses, in particular dengue and Zika. With the reappearance of dengue in Hawai'i and the mainland United States (US), clinicians should be aware of both the common presentations of dengue, as well as other less common complications associated with the disease. Dengue can result in neurologic disorders such as encephalopathy, encephalitis, immune-mediated syndromes, neuromuscular dysfunction, and neuro-ophthalmologic disorders. We present an interesting case of dengue that initially presented with classic symptoms (arthropathy, biphasic fever, and rash) and subsequently developed into a neurologic movement disorder with muscle tightening and twitching of the face, chest, and extremities. We review and update the epidemiology, biology, the clinical presentations including the neurologic complications associated with dengue, as well as their management and areas of future study in this field.

Clinical Strategy for Optimal Traditional Chinese Medicine (TCM) Herbal Dose Selection in Disease Therapeutics: Expert Consensus on Classic TCM Herbal Formula Dose Conversion.

PubMed

Zha, Lin-Hua; He, Li-Sha; Lian, Feng-Mei; Zhen, Zhong; Ji, Hang-Yu; Xu, Li-Peng; Tong, Xiao-Lin

2015-01-01

The clinical therapeutics of traditional Chinese medicine (TCM) constitutes a complicated process which involves theory, diagnosis, and formula prescription with specific herbal dosage. Zhang Zhong-Jing's classic work, Treatise on Febrile and Miscellaneous Diseases, has been influencing TCM practice for almost 2000 years. However, during this extended period of time in Chinese history, the Chinese weight measurement system experienced noticeable changes. This change in the weight measurement system inevitably, and perhaps even negatively, affected TCM herbal dosage determination and treatment outcome. Thus, in modern society, a full understanding of the accuracy of herbal dose selection has a critical importance in the TCM daily practice of delivering the best treatment to the patients suffering from different illnesses. In the 973 Project of the Chinese National Basic Research Program, expert consensus on classic TCM formula dose conversion has been reached based on extensive literature review and discussion on the dose-effect relationship of classic TCM formulas. One "liang" in classic TCM formulas is equivalent to 13.8 g. However, based on many TCM basic and clinical studies of variable herbal formula prescriptions and herbal drug preparations, the rule of one liang equals 13.8 g should be adjusted according to different disease conditions. Recommended by the committee on TCM formula dose-effect relationship of the China Association of Chinese Medicine and the World Federation of Chinese Medicine Societies, the following expert consensus has been reached: (i) One liang converts to 6-9 g for the severely and critically ill patients. (ii) One liang converts to 3-6 g for the patients suffering from chronic diseases. (iii) One liang converts to 1-3 g in preventive medicine. The above conversions should be used as a future TCM practice guideline. Using this recommended guideline should enhance the effectiveness of daily TCM practice.

Recurrent Fevers for the Pediatric Immunologist: It's Not All Immunodeficiency.

PubMed

Broderick, Lori

2016-01-01

Autoinflammatory diseases are disorders of the innate immune system, characterized by systemic inflammation independent of infection and autoreactive antibodies or antigen-specific T cells. Similar to immunodeficiencies, these immune dysregulatory diseases have unique presentations, genetics, and available therapies. Given the presentation of fevers, rashes, and mucosal symptoms in many of the disorders, the allergist/immunologist is the appropriate medical home for these patients: to appropriately rule out immunodeficiencies, evaluate for allergic disease, and diagnose and treat recurrent fever disorders. However, many practicing physicians are unfamiliar with the clinical presentation, diagnosis, and treatment of autoinflammatory disorders. This review will focus on understanding the signs and symptoms of classic autoinflammatory disorders, introduce newly described monogenic and polygenic disorders, and address the approach to the patient with recurrent fevers to distinguish autoinflammation from immunodeficiency and autoimmunity.

Primary intestinal and thoracic lymphangiectasia: a response to antiplasmin therapy.

PubMed

MacLean, Joanna E; Cohen, Eyal; Weinstein, Michael

2002-06-01

Lymphangiectasia is a congenital or acquired disorder characterized by abnormal, dilated lymphatics with a variable age of presentation. We describe a case of lymphangiectasia with intestinal and pulmonary involvement in an adolescent female, who presented with many of the classic features including chylous pleural effusions, lymphopenia, hypogammaglobinemia, and a protein-losing enteropathy. She also presented with recurrent lower gastrointestinal bleeding, which is infrequently described. The patient did not improve with bowel rest and a low-fat medium-chain triglyceride diet and had little improvement with octreotide acetate therapy. However, she had a clinical response to antiplasmin therapy, trans-4-aminothylcyclohexamine carboxylic acid (tranexamic acid) in terms of serum albumin and gastrointestinal bleeding. She continues to have exacerbations of her condition, as well as persistent lymphopenia and chronic pleural effusions.

Granulomatous lobular mastitis: report of a case with previously undescribed histopathological abnormalities.

PubMed

Axelsen, R A; Reasbeck, P

1988-10-01

A 41-yr-old multiparous woman presented with a discrete breast lump which proved histologically to be an example of granulomatous lobular mastitis. The clinical and histological features were similar to those noted in previous reports. Additional histological features in the present case were an intense mononuclear cell infiltration of lobular and ductal epithelium, associated with nuclear fragments morphologically suggestive of apoptosis. These appearances, which have not previously been described, are illustrated, together with the more classical features of the condition well demonstrated by the present case. The novel histological features noted here suggest that the development of granulomatous lobular mastitis may be at least in part immunologically mediated, and that the cellular infiltrates seen may be a manifestation of cell-mediated destruction of mammary epithelium.

Two cases of granulomatosis polyangiitis presenting with Strawberry gingivitis and a review of the literature.

PubMed

Thompson, Grace; Benwell, Nicola; Hollingsworth, Peter; McLean-Tooke, Andrew

2018-02-01

Hyperplastic gingivitis is a rare manifestation of granulomatosis with polyangiitis (GPA). This gingivitis has a very distinctive clinical appearance (so-called Strawberry gingivitis) and when seen is virtually pathognomic for GPA. Gingivitis often precedes other organ involvement therefore making awareness of this manifestation particularly important to aid early diagnosis and treatment. Furthermore, histopathological findings of gingival specimens rarely reveal necrotizing granulomatous vasculitis, which is classically seen at other sites of involvement. As a result a delay in diagnosis is not uncommon. GPA if left untreated has a high mortality rate and early immunosuppressive treatment is associated with an improved prognosis. We present two cases of patients with GPA presenting with characteristic strawberry gingivitis and review the reported cases. Copyright © 2018 Elsevier Inc. All rights reserved.

[The language disorders in schizophrenia in neurolinguistic and psycholinguistic perspectives].

PubMed

Piovan, Cristiano

2012-01-01

The descriptive psychopathology has classically equated the language with the formal aspects of thought. Recent developments in experimental and clinical research have emphasized the study of the language as a specific communicative ability. Within the framework of cognitive neuropsychology, the development of innovative research models, such as those based on the mentalizing ability, has allowed to formulate new hypotheses on the pathogenetic aspects of schizophrenia. Furthermore, mentalizing ability appears to be a basic skill for the pragmatic dimension of language. The author, after a brief description of the methods of investigation of neurolinguistics and psycholinguistics, presents a review of recent studies obtained by consulting the PubMed and PsycINFO databases. Finally, he focuses on the relationship between research findings and issues related to clinical practice.

Multiorgan failure and antiphospholipid antibodies: the catastrophic antiphospholipid (Asherson's) syndrome.

PubMed

Asherson, Ronald A

2005-01-01

A review of 250 patients with the catastrophic antiphospholipid (Asherson's) syndrome (CAPS) taken from the web site organized by the Europhospholipid Group (http://www.med.ub.es/MIMMUN/FORUM/CAPS.HTM) is presented in this paper. A short historical overview of the antiphospholipid syndrome (APS) is followed by a description of the "triggering" factors, associated autoimmune diseases, clinical presentation, presumed pathogenesis, prognosis, mode of death and suggested therapies. Triggering factors are present in approximately 50% of patients and consist predominantly of infections, trauma, including minor surgical procedures such as biopsies, obstetric-related multiorgan failure and malignancy-associated CAPS. The patients present mainly with multiorgan failure resulting from predominantly small vessel occlusions affecting mainly intra-abdominal organs such as bowel, liver, pancreas, and adrenals, although large vessel occlusions do occur and comprise mainly deep vein thromboses (DVT) of the veins of the lower limbs and arterial occlusions causing strokes and peripheral gangrene. They do not however dominate the clinical picture. The condition differs considerably from the simple/classic APS in several respects, viz. the rapid development of multiorgan failure following the above-mentioned identifiable precipitating factors, the involvement of unusual organs such as bowel, reproductive organs, and bone marrow, complicating features of disseminated intravascular coagulation in 20% of cases, the acute (adult) respiratory distress syndrome (ARDS) in one third of patients, and severe thrombocytopenia; these not being encountered in the simple/classic APS. Treatment consisting of regular and repeated plasma exchanges using fresh frozen plasma, and IV immunoglobulins in addition to parenteral steroids and anticoagulation are necessary to improve the survival in a condition where the mortality is still of the order of 50%. Treatment may have to be continued for several weeks. Parenteral antibiotics may be indicated where an underlying infection is suspected. Antifungal therapy may also be indicated with prolonged treatment and the use of the monoclonal anti-CD20 molecule, Rituximab, has proven useful in those patients where thrombocytopenia poses a major risk of hemorrhage.

Fundamental theories of waves and particles formulated without classical mass

NASA Astrophysics Data System (ADS)

Fry, J. L.; Musielak, Z. E.

2010-12-01

Quantum and classical mechanics are two conceptually and mathematically different theories of physics, and yet they do use the same concept of classical mass that was originally introduced by Newton in his formulation of the laws of dynamics. In this paper, physical consequences of using the classical mass by both theories are explored, and a novel approach that allows formulating fundamental (Galilean invariant) theories of waves and particles without formally introducing the classical mass is presented. In this new formulation, the theories depend only on one common parameter called 'wave mass', which is deduced from experiments for selected elementary particles and for the classical mass of one kilogram. It is shown that quantum theory with the wave mass is independent of the Planck constant and that higher accuracy of performing calculations can be attained by such theory. Natural units in connection with the presented approach are also discussed and justification beyond dimensional analysis is given for the particular choice of such units.

Iatrogenic hypervitaminosis D as an unusual cause of persistent vomiting: a case report.

PubMed

Bansal, Rinkesh Kumar; Tyagi, Pankaj; Sharma, Praveen; Singla, Vikas; Arora, Veronica; Bansal, Naresh; Kumar, Ashish; Arora, Anil

2014-02-26

Vitamin D is increasingly recognized to have several beneficial effects. Vitamin D deficiency is widely prevalent. Physicians often treat patients with high doses of vitamin D for various ailments without any monitoring for adverse effects and the prescribed doses often far exceed requirements resulting in toxicity. We present here a classic case of iatrogenic hypervitaminosis D, which presented with persistent vomiting and acute renal failure. Here we present a case of a 45-year-old Asian Indian woman who presented to us with persistent vomiting the cause of which was iatrogenic hypervitaminosis D. She was treated with intravenous fluid, diuretics and calcitonin and had clinical improvement. We suggest that in any patient presenting with persistent vomiting and hypercalcemia, particularly in the presence of normal parathyroid hormone, a diagnosis of overdose of vitamin D should be suspected. Its treatment not only alleviates symptoms but also prevents ongoing acute kidney injury.

[Dehydration and metabolic alkalosis: an unusual presentation of cystic fibrosis in an infant].

PubMed

Aranzamendi, Roberto J; Breitman, Fanny; Asciutto, Carolina; Delgado, Norma; Castaños, Claudio

2008-10-01

Cystic fibrosis (CF) may present during neonatal period with classic clinic symptoms related to the disease. The severity of the disease is multifactorial, one of the factors depends on the level of activity of the CFTR protein, which is related with the mutation type that affects the patient. An infant is presented who developed recurrent episodes of vomiting, anorexia, weight loss, dehydration and electrolyte abnormalities, such as metabolic alkalosis, hyponatremia, hypokalemia and hypochloremia. CF was diagnosed after the third episode showing an unusual and not very publicized presentation of the disease. Mutations !F 508 and 2789+5G-A were found. CF should be considered in patients of any age, but particularly in infants, presenting with anorexia, vomiting, failure to thrive, that are associated with recurrent episodes of hyponatremic hypochloremic, dehydration with metabolic alkalosis unexplained by other causes, even in the absence of respiratory or gastrointestinal symptoms or failure to thrive.

Diagnosis and management of primary hyperparathyroidism--a scientific statement from the Department of Bone Metabolism, the Brazilian Society for Endocrinology and Metabolism.

PubMed

Bandeira, Francisco; Griz, Luiz; Chaves, Narriane; Carvalho, Nara Crispim; Borges, Lívia Maria; Lazaretti-Castro, Marise; Borba, Victoria; Castro, Luiz Cláudio de; Borges, João Lindolfo; Bilezikian, John

2013-08-01

To conduct a literature review on the diagnosis and management of primary hyperparathyroidism including the classical hipercalcemic form as well as the normocalcemic variant. This scientific statement was generated by a request from the Brazilian Medical Association (AMB) to the Brazilian Society for Endocrinology as part of its Clinical Practice Guidelines program. Articles were identified by searching in PubMed and Cochrane databases as well as abstracts presented at the Endocrine Society, Brazilian Society for Endocrinology Annual Meetings and the American Society for Bone and Mineral Research Annual Meeting during the last 5 years. Grading quality of evidence and strength of recommendation were adapted from the first report of the Oxford Centre for Evidence-based Medicine. All grades of recommendation, including "D", are based on scientific evidence. The differences between A, B, C and D, are due exclusively to the methods employed in generating evidence. We present a scientific statement on primary hyperparathyroidism providing the level of evidence and the degree of recommendation regarding causes, clinical presentation as well as surgical and medical treatment.

Xanthogranulomatous pyelonephritis presenting as acute pleuritic chest pain: a case report.

PubMed

Chow, Justin; Kabani, Rameez; Lithgow, Kirstie; Sarna, Magdalena A

2017-04-12

Xanthogranulomatous pyelonephritis is a rare and serious manifestation of chronic kidney inflammation that can be life-threatening if not recognized and treated appropriately, often with antibiotics and surgery. Affected patients are most commonly females in their fifth or sixth decade of life with a background of obstructive uropathy, nephrolithiasis, or recurrent urinary tract infections who present with vague nonspecific symptoms. A 43-year-old woman of Russian ethnicity with a history of nephrolithiasis presented to our emergency department with new left-sided pleuritic chest pain amid a 6-week history of constitutional symptoms including fevers, night sweats, and 7 kg of weight loss. Workup for acute coronary syndrome and pulmonary embolism in our emergency department was negative. Given that she was clinically unwell, she was admitted to internal medicine to expedite workup for the cause of her symptoms. A broad differential diagnosis for various infectious, inflammatory/autoimmune, and neoplastic processes was considered. Based on classic radiographic and histopathologic findings, she was ultimately diagnosed with xanthogranulomatous pyelonephritis of her left kidney, which was a direct consequence of chronic inflammation. This inflammation exhibited spread to local tissues and across her left hemidiaphragm, resulting in a unilateral pleural effusion which explained her chest discomfort. She was treated with antibiotics administered intravenously and urgent total nephrectomy with a good functional outcome. Our case illustrates an uncommon but clinically important do-not-miss diagnosis that underlies a common clinical presentation of pleuritic chest pain. The case underscores the importance of maintaining a broad differential diagnosis and organized approach when treating patients with undifferentiated clinical presentations.

Classical and quantum communication without a shared reference frame.

PubMed

Bartlett, Stephen D; Rudolph, Terry; Spekkens, Robert W

2003-07-11

We show that communication without a shared reference frame is possible using entangled states. Both classical and quantum information can be communicated with perfect fidelity without a shared reference frame at a rate that asymptotically approaches one classical bit or one encoded qubit per transmitted qubit. We present an optical scheme to communicate classical bits without a shared reference frame using entangled photon pairs and linear optical Bell state measurements.

Driven topological systems in the classical limit

NASA Astrophysics Data System (ADS)

Duncan, Callum W.; Öhberg, Patrik; Valiente, Manuel

2017-03-01

Periodically driven quantum systems can exhibit topologically nontrivial behavior, even when their quasienergy bands have zero Chern numbers. Much work has been conducted on noninteracting quantum-mechanical models where this kind of behavior is present. However, the inclusion of interactions in out-of-equilibrium quantum systems can prove to be quite challenging. On the other hand, the classical counterpart of hard-core interactions can be simulated efficiently via constrained random walks. The noninteracting model, proposed by Rudner et al. [Phys. Rev. X 3, 031005 (2013), 10.1103/PhysRevX.3.031005], has a special point for which the system is equivalent to a classical random walk. We consider the classical counterpart of this model, which is exact at a special point even when hard-core interactions are present, and show how these quantitatively affect the edge currents in a strip geometry. We find that the interacting classical system is well described by a mean-field theory. Using this we simulate the dynamics of the classical system, which show that the interactions play the role of Markovian, or time-dependent disorder. By comparing the evolution of classical and quantum edge currents in small lattices, we find regimes where the classical limit considered gives good insight into the quantum problem.

Rare presentation of a treatable disorder: glutaric aciduria type 1.

PubMed

Badve, Monica S; Bhuta, Sandeep; Mcgill, Jim

2015-02-20

A 32-year-old female patient presented with migraine and a bipolar disorder with frontal lobe dysfunction and bilateral pyramidal tract signs on examination. MRI brain revealed confluent bilateral symmetric white matter signal abnormality on T2 and FLAIR images with mild cerebral atrophy. Classic widening of Sylvian fissures and CSF space anterior to temporal lobes was seen. In view of the clinical and radiologic findings suggestive of a leukodystrophy, she was investigated for the same. Her investigations revealed an high level of urinary glutaric acid 857 mmol/mol creatinine (normal <4mmol/mol creatinine) and 3-hydroxyglutaric acid 44 mmol/mol creatinine (normal <1 mmol/mol creatinine) and plasma glutaryl carnitine 1.2 micromol/L; (normal <0.34 micromol/L). This was diagnostic of glutaric aciduria type 1. She was started on L-carnitine with which she showed clinical improvement. Testing for urinary organic acids is important when looking for treatable metabolic disorders (such as glutaric aciduria type I) in patients with leukodystrophy.

[On classification of changes in necrotizing lesions of the midface].

PubMed

Szyfter, W; Wierzbicka, M

1996-01-01

Lethal midline granuloma syndrome (LMG) describes lesions of the midface and is characterized by a progressive and often fatal ulceration and destruction of the upper air way involving the nose, the paranasal sinuses, the palate and the soft tissues of the face. Under the term LMG we distinguish four entities: idiopathic midline destructive disease (IMDD), polymorphic reticulosis (PR), non Hodkin's lymphoma and Wegener's granulomatosis (WG). Review of the literature allows to present the differential diagnosis making use of latest technological achievements in clinical immunology and immunohistochemistry. First of all the LMG must be discriminated from localized WG occurring in the midface. The clinical, serological and histopathological findings in WG are described. Literature review is carried out and recent concepts of it's etiology and pathogenesis are presented. Autoantibodies directed against cytoplasmic antigens of neutrophils (ANCA) with specificity for proteinase 3 (PR 3) are valuable marker for differential diagnosis and specificity are discussed. We make a comparison between the "limited" or "non renal" WG and "classical" or "renal" form of the disease.

Telangiectatic oncocytoma: a previously undescribed variant of renal oncocytoma.

PubMed

Xiao, Guang-Qian; Ko, Huai-Bin Mabel; Unger, Pamela

2013-07-01

To identify, describe, and investigate the clinical, radiologic, and pathologic features of 8 cases of telangiectatic oncocytoma. Fifty-three consecutive renal oncocytomas were reviewed for the telangiectatic pathologic features that were subsequently correlated with the demographic, clinical, and radiographic findings. Telangiectatic oncocytoma accounted for 15% of the 53 renal oncocytomas collected in the past 7 years in our institution. On radiology, almost all presented as an enhancing mass and were suspicious for or consistent with a renal malignant tumor. Grossly, the tumors ranged from 2.4 to 6.0 cm (mean, 3.5 cm) and macroscopically were hemorrhagic spongy or multicystic masses without a central stellate scar. Microscopically, they were characterized by variably sized blood-distended spaces (<0.1-mm to 2- to 3-mm blood lakes) lined by typical oncocytoma cells and without evidence of degenerative changes. With its unique radiologic and pathologic presentations in comparison with classic renal oncocytoma, it is important to recognize this new variant of renal oncocytoma.

When Fathering Fails: Violence, Narcissism, and the Father Function in Ancient Tales and Clinical Analysis.

PubMed

Diamond, Michael J

2018-02-01

Manifestations of failures in both symbolic and actual flesh-and-blood fathering reveal the inescapable role played by the father's unconscious transmissions in the ever present triadic matrix. Perelberg's crucial distinction between the murdered narcissistic father and the dead symbolic father suggests the problematic internalizations that fail to uphold the paternal law required for oedipal resolution. Three father-child narratives derived from classical literature and mythology are presented in order to elucidate significant unconscious paternal fantasies pertaining to lethal rivalry and neglect of the child's otherness. These narratives suggest how the father's insufficient management of rivalrous, envious, and murderously aggressive impulses-as well as narcissistic needs that fail to take into account the child's alterity-combine with the child's intrapsychic propensities to constrict triangular space and restrict development. Consequently, unavoidable father-child rivalries, absences, neglect, and desires often make it vital to recover the "missing" paternal function in analytic space. A clinical example illustrates the impact of this absence on the analyst's countertransference.

The oculo-dento-digital syndrome: male-to-male transmission and variable expression in a family.

PubMed

Ioan, D M; Dumitriu, L; Belengeariu, V; Fryns, J P

1997-01-01

We report two siblings--a 5 1/2 year old female and her 4 1/2 year old brother, both presenting the classical clinical findings of oculo-dento-digital dysplasia (ODD). 1. Digital anomalies: bilateral complete cutaneous syndactyly of fingers IV-V (III-IV-V at the left hand of the boy) and camptodactyly IV. 2. Facial and ocular anomalies: microphtalamos-epicanthal folds, small midfacies, thin nose with hypoplastic alae nasi and small nares. 3. Dental anomalies with partial dental agenesis and enamel hypoplasia. Examination of the parents showed a bilateral cutaneous syndactyly IV-V in the father as the sole partial manifestation of ODD. The findings in the present family confirm the autosomal dominant inheritance of ODD with great variability in clinical expression. Moreover, the facial morphology (thin, hypoplastic nose) observed in several ODD patients suggests nosological overlap with the Hallerman-Streiff syndrome and could indicate that both syndromes are variable expressions of a contiguous gene deletion syndrome.

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

PubMed

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

2013-08-01

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. © 2013 International Society for Neurochemistry.

21-Hydroxylase deficiency: an exemplary model of the contribution of molecular biology in the understanding and management of the disease.

PubMed

Forest, M G; Tardy, V; Nicolino, M; David, M; Morel, Y

2005-06-01

Congenital adrenal hyperplasia (CAH) is a family of autosomal recessive disorders caused by mutations in genes encoding the enzymes involved in one of the various steps of adrenal steroid synthesis. Steroid 21-hydroxylase deficiency (21-OHD) is responsible for over 95% of the 5 forms of CAH, and results due to enzymatic defect owing to mutation in the CYP21 gene. The disease has two major clinical presentations. The "classical" form is severe, and divided into a salt wasting (SW) and simple virilizing (SV) subgroups. In both, affected female fetuses undergo virilization of the external genitalia prenatally and present at birth with sexual ambiguity. In addition, in both sexes infants with SW CAH are at risk of life-threatening adrenal crisis without treatment. This is why it is so important to make a diagnosis and to counsel the families. The diagnosis is easy by measuring the plasma levels of 17-hydroxyprogesterone (17-OHP) in antenatal (amniotic fluid), or perinatal samples (peripheral blood). Confirmation by molecular genetic analysis is advised. The second form of 21-OHD is called "non classical" because the presentation is much less severe and the onset of clinical expression occurs long after birth, often in the peripubertal period, as non-specific symptoms of hyperandrogeny. The unambiguous diagnosis of the latter requires a simple short ACTH test, with the measurement of 17-OHP at 60 min. In both forms, the mutations on the gene CYP21 responsible for the disease are now well known and can be identified by molecular biology techniques. There is a good correlation between phenotypes and genotypes, due to variable amount of the 21-hydroxylase-enzyme activity left (null to 50-60%). SW, SV and NC forms are associated with distinct mutations or combination of mutations. Nowadays, by combining hormonal and molecular tests, it is possible to predict the clinical form of the disease in a given family in the context of a prenatal diagnosis, which can lead to a prenatal treatment. Therefore, 21-OHD genotyping also appears essential for a new approach of genetic counseling, prediction of clinical form after postnatal screening and to define the post-ACTH 17-OHP values indicating the cut-off lines between NC, heterozygote and normal subjects.

Automation of Classical QEEG Trending Methods for Early Detection of Delayed Cerebral Ischemia: More Work to Do.

PubMed

Wickering, Ellis; Gaspard, Nicolas; Zafar, Sahar; Moura, Valdery J; Biswal, Siddharth; Bechek, Sophia; OʼConnor, Kathryn; Rosenthal, Eric S; Westover, M Brandon

2016-06-01

The purpose of this study is to evaluate automated implementations of continuous EEG monitoring-based detection of delayed cerebral ischemia based on methods used in classical retrospective studies. We studied 95 patients with either Fisher 3 or Hunt Hess 4 to 5 aneurysmal subarachnoid hemorrhage who were admitted to the Neurosciences ICU and underwent continuous EEG monitoring. We implemented several variations of two classical algorithms for automated detection of delayed cerebral ischemia based on decreases in alpha-delta ratio and relative alpha variability. Of 95 patients, 43 (45%) developed delayed cerebral ischemia. Our automated implementation of the classical alpha-delta ratio-based trending method resulted in a sensitivity and specificity (Se,Sp) of (80,27)%, compared with the values of (100,76)% reported in the classic study using similar methods in a nonautomated fashion. Our automated implementation of the classical relative alpha variability-based trending method yielded (Se,Sp) values of (65,43)%, compared with (100,46)% reported in the classic study using nonautomated analysis. Our findings suggest that improved methods to detect decreases in alpha-delta ratio and relative alpha variability are needed before an automated EEG-based early delayed cerebral ischemia detection system is ready for clinical use.

Clinical characteristics and public health management of invasive meningococcal group W disease in the East Midlands region of England, United Kingdom, 2011 to 2013.

PubMed

Bethea, Jane; Makki, Sophia; Gray, Steve; MacGregor, Vanessa; Ladhani, Shamez

2016-06-16

In England and Wales, meningococcal disease caused by group W has historically been associated with outbreaks of disease among travellers to high-risk countries. Following a large outbreak associated with travel to the Hajj in 2000, the number of cases declined and, in 2008, only 19 laboratory-confirmed cases were identified nationally. In 2013, in the East Midlands region of England, eight cases of meningococcal disease caused by this serogroup were recorded, compared with six from 2011 to 2012. To explore this further, data for all cases with a date of onset between 1 January 2011 and 31 December 2013 were collected. Data collected included geographical location, clinical presentation and outcome. Fourteen cases were identified; two died as a result of their illness and two developed long-term health problems. No commonality in terms of geographical location, shared space or activities was identified, suggesting that group W is circulating endemically with local transmission. Clinical presentation was variable. Half presented with symptoms not typical of a classical meningococcal disease, including two cases of cellulitis, which may have implications for clinicians, in terms of timely identification and treatment, and public health specialists, for offering timely antibiotic chemoprophylaxis to close contacts. This article is copyright of The Authors, 2016.

An international registry for primary ciliary dyskinesia.

PubMed

Werner, Claudius; Lablans, Martin; Ataian, Maximilian; Raidt, Johanna; Wallmeier, Julia; Große-Onnebrink, Jörg; Kuehni, Claudia E; Haarman, Eric G; Leigh, Margaret W; Quittner, Alexandra L; Lucas, Jane S; Hogg, Claire; Witt, Michal; Priftis, Kostas N; Yiallouros, Panayiotis; Nielsen, Kim G; Santamaria, Francesca; Ückert, Frank; Omran, Heymut

2016-03-01

Primary ciliary dyskinesia (PCD) is a rare autosomal recessive disorder leading to chronic upper and lower airway disease. Fundamental data on epidemiology, clinical presentation, course and treatment strategies are lacking in PCD. We have established an international PCD registry to realise an unmet need for an international platform to systematically collect data on incidence, clinical presentation, treatment and disease course.The registry was launched in January 2014. We used internet technology to ensure easy online access using a web browser under www.pcdregistry.eu. Data from 201 patients have been collected so far. The database is comprised of a basic data form including demographic and diagnostic information, and visit forms designed to monitor the disease course.To establish a definite PCD diagnosis, we used strict diagnostic criteria, which required two to three diagnostic methods in addition to classical clinical symptoms. Preliminary analysis of lung function data demonstrated a mean annual decline of percentage predicted forced expiratory volume in 1 s of 0.59% (95% CI 0.98-0.22).Here, we present the development of an international PCD registry as a new promising tool to advance the understanding of this rare disorder, to recruit candidates for research studies and ultimately to improve PCD care. Copyright ©ERS 2016.

The Classic Approach to Diagnosis of Vulvovaginitis: A Critical Analysis

PubMed Central

Lakovsky, Yaniv; Lavi, Idit; Bar-Am, Amiram; Abramovici, Haim

2001-01-01

Objective: To correlate the symptoms, signs and clinical diagnosis in women with vaginal discharge, based on the combined weight of the character of the vaginal discharge and bedside tests, with the laboratory diagnosis. Methods: Women presenting consecutively to the women's health center with vaginal discharge were interviewed and examined for assessment of the quantity and color of the discharge. One drop of the material was then examined for pH and the whiff test was done; a wet mount in saline and in 10% KOH was examined microscopically. The clinical diagnosis was based on the results of these assessments. Gram stain and cultures of the discharge were sent to the microbiology laboratory. Results: One hundred and fifty-threewomen with vaginal discharge with a clinical diagnosis of vulvovaginitis participated in the study. Fifty-five (35.9%) had normal flora and the other 98 (64.1%) had true infectious vulvovaginitis (k agreement = 18%). According to the laboratory, the principal infectious micro-organism causing the vulvovaginitis was Candida species. Candida infection was associated with pH levels of less than 4.5 (p < 0.0001, odds ratio = 4.74, 95% confidence interval: 2.35–9.5, positive predictive value 68.4%). The whiff test was positive in only a small percentage of bacterial vaginosis (BV) (p = not significant (NS)). Clue cells were documented in 53.3% of patients with a laboratory diagnosis of BV (p < 0.02, positive predictive value 26.7%). Conclusions: The current approach to the diagnosis of vulvovaginitis should be further studied. The classical and time-consuming assessments were shown not to be reliable diagnostic measures. PMID:11495550

Effectiveness and risks of combining antipsychotic drugs with electroconvulsive treatment.

PubMed

Sanz-Fuentenebro, Francisco Javier; Vidal Navarro, Ignacio; Ballesteros Sanz, Daniel; Verdura Vizcaíno, Ernesto

2011-01-01

The simultaneous application of electroconvulsive therapy (ECT) and psychotropic drugs is based on sparse data. Despite this, and the restrictive approach of the Guidelines and Consensus is widespread in the usual care, it is widely practiced in routine clinical. We reviewed the results of search on the topic in MEDLINE, PsychINFO, EMBASE and Cochrane, and the main guidelines on the subject and analyzed for drug groups. Except some reservation with regard to classical MAOIs, antidepressants are safe and effective enhancers of the TEC. It is desirable to discontinuation of BZD whenever clinically possible before the course of ECT for risk of interference, if not possible will have to use proper technique to ensure effective incentives. It is advisable to stop or reduce the dose of lithium prior to ECT based on a cost-benefit analysis of the risk of relapse, if maintained will be adjusted lower levels and cognitive effects minimizing techniques. The combination with "classic" and "atypical" antipsychotics power positive clinical effects and the risk of combined use is low. The positive data are collected with clozapine and ECT-resistant psychosis, with little presence of effects of the decrease of seizure threshold by clozapine, and important effect of empowerment, but of limited duration. Although it is strictly necessary to identify situations in terms of drugs, patient and ECT technique, and care necessary to develop tests that provide methodologically sound data, the combined use of ECT and psychotropic drugs in general presents an acceptable risk level and efficacy data by encouraging empowerment. Copyright © 2010 SEP y SEPB. Published by Elsevier Espana. All rights reserved.

High-impact articles in hand surgery.

PubMed

Eberlin, Kyle R; Labow, Brian I; Upton, Joseph; Taghinia, Amir H

2012-06-01

There have been few attempts to identify classic papers within the hand surgery literature. This study used citation analysis to identify and characterize the top 50 highly cited hand surgery articles published in six peer-reviewed journals. The 50 most highly cited hand surgery articles were identified in the Journal of Bone and Joint Surgery (JBJS) American, JBJS British, Plastic and Reconstructive Surgery, Journal of Hand Surgery (JHS) American, JHS British/European, and Hand. Articles were evaluated for citations per year, surgical/anatomical topic, and type of study. Clinical studies were further sub-categorized by level of evidence. The distribution of topics was compared with all indexed hand surgery articles. The educational relevance was assessed via comparison with lists of "classic" papers. The most common subjects were distal radius fracture, carpal tunnel syndrome, and flexor tendon repair. There was moderate correlation between the distribution of these topics and all indexed hand surgery articles (rho = 0.71). There were 31 clinical studies, of which 16 were therapeutic, ten were prognostic, and five were diagnostic. These articles assessed the outcomes of an intervention, described an anatomical/functional observation, introduced an innovation, presented a discovery/classification, or validated a questionnaire. There were only three randomized trials. Using citations per year to control for the influence of time since publication, 36 articles were consistently highly cited. Twenty-three articles were on Stern's Selected Readings in Hand Surgery, considered important in education. The top 50 highly cited articles in hand surgery reflect the most common clinical, scientific, and educational efforts of the field.

Constitutional trisomy 8 mosaicism syndrome: case report and review

PubMed Central

Udayakumar, Achandira M.; Al-Kindy, Adila

2013-01-01

Trisomy 8 mosaicism (Warkany syndrome) is a rare viable condition with variable phenotypes, ranging from mild dysmorphic features to severe malformations. Karyotyping and fluorescence in-situ hybridization potentially help detecting this low mosaic clone to confirm the diagnosis of patients with classical and unusual clinical presentations. This report reviews few previous cases to describe our case - a boy who had trisomy 8 mosaicism with severe dysmorphic features, born to a consanguineous Arabic couple. This study concludes that careful cytogenetic diagnoses of trisomy 8 mosaicism is essential for appropriate management and follow up of this rare disorder. PMID:27625859

Constitutional trisomy 8 mosaicism syndrome: case report and review.

PubMed

Udayakumar, Achandira M; Al-Kindy, Adila

2013-12-01

Trisomy 8 mosaicism (Warkany syndrome) is a rare viable condition with variable phenotypes, ranging from mild dysmorphic features to severe malformations. Karyotyping and fluorescence in-situ hybridization potentially help detecting this low mosaic clone to confirm the diagnosis of patients with classical and unusual clinical presentations. This report reviews few previous cases to describe our case - a boy who had trisomy 8 mosaicism with severe dysmorphic features, born to a consanguineous Arabic couple. This study concludes that careful cytogenetic diagnoses of trisomy 8 mosaicism is essential for appropriate management and follow up of this rare disorder.

Osteosarcoma: a comprehensive review

PubMed Central

Misaghi, Amirhossein; Goldin, Amanda; Awad, Moayd; Kulidjian, Anna A

2018-01-01

Osteosarcoma (OS) is a relatively rare tumor of bone with a worldwide incidence of 3.4 cases per million people per year. For most of the twentieth century, five-year survival rates for classic OS were very low. In the 1970s, the introduction of adjuvant chemotherapy in the treatment of OS increased survival rates dramatically. The current article reviews the various types of OS and analyzes the clinical and histological features. We also examine historical and current literature to present a succinct review of methods for diagnosis and staging, as well as treatment, and we also discuss some of the future directions of treatment. PMID:29629690

A novel missense mutation of COL5A2 in a patient with Ehlers-Danlos syndrome.

PubMed

Watanabe, Miki; Nakagawa, Ryuji; Naruto, Takuya; Kohmoto, Tomohiro; Suga, Ken-Ichi; Goji, Aya; Kagami, Shoji; Masuda, Kiyoshi; Imoto, Issei

2016-01-01

Ehlers-Danlos syndrome (EDS) is a group of inherited connective tissue disorders characterized by hyperextensible skin, joint hypermobility and soft tissue fragility. For molecular diagnosis, targeted exome sequencing was performed on a 9-year-old male patient who was clinically suspected to have EDS. The patient presented with progressive kyphoscoliosis, joint hypermobility and hyperextensible skin without scars. Ultimately, classical EDS was diagnosed by identifying a novel, mono-allelic mutation in COL5A2 [NM_000393.3(COL5A2_v001):c.682G>A, p.Gly228Arg].

A novel missense mutation of COL5A2 in a patient with Ehlers–Danlos syndrome

PubMed Central

Watanabe, Miki; Nakagawa, Ryuji; Naruto, Takuya; Kohmoto, Tomohiro; Suga, Ken-ichi; Goji, Aya; Kagami, Shoji; Masuda, Kiyoshi; Imoto, Issei

2016-01-01

Ehlers–Danlos syndrome (EDS) is a group of inherited connective tissue disorders characterized by hyperextensible skin, joint hypermobility and soft tissue fragility. For molecular diagnosis, targeted exome sequencing was performed on a 9-year-old male patient who was clinically suspected to have EDS. The patient presented with progressive kyphoscoliosis, joint hypermobility and hyperextensible skin without scars. Ultimately, classical EDS was diagnosed by identifying a novel, mono-allelic mutation in COL5A2 [NM_000393.3(COL5A2_v001):c.682G>A, p.Gly228Arg]. PMID:27656288

False fracture of the penis.

PubMed

Shah, Darshan K; Paul, Elliot M; Meyersfield, Sanford A; Schoor, Richard A

2003-06-01

Penile fracture is an uncommon, but well-described, entity that requires emergent treatment. The classic, "text-book" history, a blow to the erect penis accompanied by a "snap," pain, and immediate detumescence, is not universally present. We report 2 cases of "false" penile fracture, a condition that closely mimics "true" penile fracture. Perhaps the most distinguishing symptoms are the absence of the "snap" and gradual detumescence, both of which suggest false fracture but are not specific. It is our intention to bring this condition to the attention of general urologists who may see it in clinical practice and to guide them in its management.

Gingival squamous cell carcinoma masquerading as an aphthous ulcer

PubMed Central

Kumari, Prathypaty Santha; Kumar, Gudi Pavan; Bai, Yendluri Durga; Reddy, Eragam Yella Reddy Balaji Naveen

2013-01-01

Gingival squamous cell carcinoma (GSCC) is an uncommon condition of the oral cavity. It is seldom associated with classic risk factors of oral cancer and shows a predilection for females. It's close clinical resemblances to various lesions of the oral cavity may make it go unnoticed. This may lead to diagnosis at advanced stages and coupled with the proximity to underlying alveolar bone may result in subsequent morbidity and mortality. A case of GSCC camouflaged as an aphthous ulcer in a middle aged woman is presented. The article highlights the importance of early diagnosis resulting in conservative treatment approaches. PMID:24174737

Classical Rhetoric, Modern Rhetoric, and Contemporary Discourse Studies.

ERIC Educational Resources Information Center

Lunsford, Andrea A.; Ede, Lisa S.

1984-01-01

Reviews the conventional presentation of classical rhetoric by those advocating a new rhetoric, demonstrates the inaccuracy of their view by offering an alternative interpretation of Aristotelian rhetoric, sets forth three similar assumptions that underlie both classical and modern rhetoric, and suggests that these assumptions inform a number of…

The Statistical Interpretation of Classical Thermodynamic Heating and Expansion Processes

ERIC Educational Resources Information Center

Cartier, Stephen F.

2011-01-01

A statistical model has been developed and applied to interpret thermodynamic processes typically presented from the macroscopic, classical perspective. Through this model, students learn and apply the concepts of statistical mechanics, quantum mechanics, and classical thermodynamics in the analysis of the (i) constant volume heating, (ii)…

Incidentally diagnosed Peyronie's disease in men presenting with erectile dysfunction.

PubMed

Kadioglu, A; Oktar, T; Kandirali, E; Kendirci, M; Sanli, O; Ozsoy, C

2004-12-01

The aim of this study was to analyze characteristics of patients with Peyronie's disease (PD) diagnosed during a standard evaluation for erectile dysfunction (ED) and compare them with patients presenting with the classical complaints of PD. During a 10-y period, a total of 448 patients were evaluated at our two outpatient clinics, directed by the same author (AK). They were divided into two groups: group I consisted of patients, who presented with only ED and were unaware of their penile deformity, and group II consisted of patients with the classical features of the disease. The clinical characteristics, penile deformities, erectile status and the presence of comorbidities were determined in the two groups. Of 448 Peyronie's patients, 16% (n=71) were detected during diagnostic work-up for ED. In this group of patients, ED was the presenting symptom for a mean period of 31.3+/-9.7 months. The mean age of men was 57.54+/-8.75 and 52.21+/-10.27 y in groups I and II, respectively (P=0.0001). The mean degree of deformity was 31.5+/-12.66 degrees in group I and 41.16+/-19.14 degrees in group II (P=0.0001). In group I (n=71), 69% (n=49) of the patients had a poor erectile response to the combined injection and stimulation (CIS) test. Also, in this group, the mean degrees of deformity in CIS-positive and -negative patients were 27.05+/-12.50 and 33.80+/-12.03 degrees , respectively (P=0.033). Diabetes mellitus (40%) was the leading comorbidity in group I, while at least one comorbidity was observed in 73% of the cases (P=0.001). A remarkable percent of Peyronie's patients (16%) were detected during a standard evaluation for ED. This study analyzed, for the first time, the frequency and the characteristics of incidentally diagnosed Peyronie's patients who presented with only ED. Our data indicate that one should always consider the possibility of PD in older patients with diabetes, presenting with only ED.

Pre-Clinical Evaluation of a Real-Time PCR Assay on a Portable Instrument as a Possible Field Diagnostic Tool: Experiences from the Testing of Clinical Samples for African and Classical Swine Fever Viruses.

PubMed

Liu, L; Luo, Y; Accensi, F; Ganges, L; Rodríguez, F; Shan, H; Ståhl, K; Qiu, H-J; Belák, S

2017-10-01

African swine fever (ASF) and classical swine fever (CSF) are two highly infectious transboundary animal diseases (TADs) that are serious threats to the pig industry worldwide, including in China, the world's largest pork producer. In this study, a duplex real-time PCR assay was developed for the rapid detection and differentiation of African swine fever virus (ASFV) and classical swine fever virus (CSFV). The assay was performed on a portable, battery-powered PCR thermocycler with a low sample throughput (termed as 'T-COR4 assay'). The feasibility and reliability of the T-COR4 assay as a possible field method was investigated by testing clinical samples collected in China. When evaluated with reference materials or samples from experimental infections, the assay performed in a reliable manner, producing results comparable to those obtained from stationary PCR platforms. Of 59 clinical samples, 41 had results identical to a two-step CSFV real-time PCR assay. No ASFV was detected in these samples. The T-COR4 assay was technically easy to perform and produced results within 3 h, including sample preparation. In combination with a simple sample preparation method, the T-COR4 assay provides a new tool for the field diagnosis and differentiation of ASF and CSF, which could be of particular value in remote areas. © 2016 Blackwell Verlag GmbH.

Leaky GFD problems

NASA Astrophysics Data System (ADS)

Chumakova, Lyubov; Rzeznik, Andrew; Rosales, Rodolfo R.

2017-11-01

In many dispersive/conservative wave problems, waves carry energy outside of the domain of interest and never return. Inside the domain of interest, this wave leakage acts as an effective dissipation mechanism, causing solutions to decay. In classical geophysical fluid dynamics problems this scenario occurs in the troposphere, if one assumes a homogeneous stratosphere. In this talk we present several classic GFD problems, where we seek the solution in the troposphere alone. Assuming that upward propagating waves that reach the stratosphere never return, we demonstrate how classic baroclinic modes become leaky, with characteristic decay time-scales that can be calculated. We also show how damping due to wave leakage changes the classic baroclinic instability problem in the presence of shear. This presentation is a part of a joint project. The mathematical approach used here relies on extending the classical concept of group velocity to leaky waves with complex wavenumber and frequency, which will be presented at this meeting by A. Rzeznik in the talk ``Group Velocity for Leaky Waves''. This research is funded by the Royal Soc. of Edinburgh, Scottish Government, and NSF.

Any Ontological Model of the Single Qubit Stabilizer Formalism must be Contextual

NASA Astrophysics Data System (ADS)

Lillystone, Piers; Wallman, Joel J.

Quantum computers allow us to easily solve some problems classical computers find hard. Non-classical improvements in computational power should be due to some non-classical property of quantum theory. Contextuality, a more general notion of non-locality, is a necessary, but not sufficient, resource for quantum speed-up. Proofs of contextuality can be constructed for the classically simulable stabilizer formalism. Previous proofs of stabilizer contextuality are known for 2 or more qubits, for example the Mermin-Peres magic square. In the work presented we extend these results and prove that any ontological model of the single qubit stabilizer theory must be contextual, as defined by R. Spekkens, and give a relation between our result and the Mermin-Peres square. By demonstrating that contextuality is present in the qubit stabilizer formalism we provide further insight into the contextuality present in quantum theory. Understanding the contextuality of classical sub-theories will allow us to better identify the physical properties of quantum theory required for computational speed up. This research was supported by CIFAR, the Government of Ontario, and the Government of Canada through NSERC and Industry Canada.

Clinical severity and quality of life in children and adolescents with Rett syndrome

PubMed Central

Lane, J.B.; Lee, H.-S.; Smith, L.W.; Cheng, P.; Glaze, D.G.; Neul, J.L.; Motil, K.J.; Barrish, J.O.; Skinner, S.A.; Annese, F.; McNair, L.; Graham, J.; Khwaja, O.; Barnes, K.; Krischer, J.P.

2011-01-01

Objective: The clinical features and genetics of Rett syndrome (RTT) have been well studied, but examination of quality of life (QOL) is limited. This study describes the impact of clinical severity on QOL among female children and adolescents with classic RTT. Methods: Cross-sectional and longitudinal analyses were conducted on data collected from an NIH-sponsored RTT natural history study. More than 200 participants from 5 to 18 years of age with classic RTT finished their 2-year follow-up at the time of analysis. Regression models after adjustment for their MECP2 mutation type and age at enrollment were used to examine the association between clinical status and QOL. Results: Severe clinical impairment was highly associated with poor physical QOL, but worse motor function and earlier age at onset of RTT stereotypies were associated with better psychosocial QOL; conversely, better motor function was associated with poorer psychosocial QOL. Conclusions: Standard psychosocial QOL assessment for children and adolescents with RTT differs significantly with regard to their motor function severity. As clinical trials in RTT emerge, the Child Health Questionnaire 50 may represent one of the important outcome measures. PMID:22013176

Autoimmune bullous skin diseases. Part 1: Clinical manifestations.

PubMed

Kneisel, Andrea; Hertl, Michael

2011-10-01

Autoimmune bullous skin diseases are characterized by autoantibodies against adhesion molecules of the skin. Pemphigus is a disorder with an intraepidermal loss of adhesion and is characterized by fragile blisters and erosions. Pemphigus vulgaris often shows extensive lesions of the oral mucosa, while pemphigus foliaceus is commonly restricted to cutaneous involvement with puff pastry-like scale formation. Paraneoplastic pemphigus is obligatorily associated with malignancies and often presents as hemorrhagic stomatitis with multiforme-like exanthems. IgA pemphigus typically presents with pustules and annular plaques but not with mucosal involvement. The clinical spectrum of the pemphigoids includes tense blisters, urticarial plaques, and prurigo- like eczematous lesions. Pemphigoid gestationis mostly occurs during the last trimester of pregnancy and mucous membrane pemphigoid primarily involves the oral mucosa and conjunctivae and leads to scarring. Linear IgA bullous dermatosis manifests with tense blisters in a "cluster of jewels"-like pattern in childhood and is more heterogeneous in adulthood. Classical epidermolysis bullosa acquisita shows extensive skin fragility. Dermatitis herpetiformis is associated with gluten-sensitive enteropathy and manifests clinically with severe itching and papulovesicles on the extensor surfaces of the extremities and the lumbosacral area. The intention of the review is to demonstrate the heterogeneous clinical spectrum of autoimmune bullous disorders. © The Authors • Journal compilation © Blackwell Verlag GmbH, Berlin.

Central Nervous System Histoplasmosis in Acquired Immunodeficiency Syndrome.

PubMed

Nyalakonda, Harita; Albuerne, Marisol; Suazo Hernandez, Lia Patricia; Sarria, Juan C

2016-02-01

Involvement of the central nervous system (CNS) by Histoplasma capsulatum in AIDS is uncommon and not easily recognized. CNS histoplasmosis cases from our institution were identified by a retrospective chart review from 2004-2014. A thorough literature search was performed for additional cases and their characteristics were compared. Clinical findings, treatment and outcomes are discussed. A total of 5 cases from our institution were identified. They had a clinical presentation that included classic signs of meningitis, often with evidence of disseminated involvement, and was typically severe with important neurological impairment. These cases were treated with antifungal agents, including a lipid amphotericin B formulation and azole drugs, but eventually 3 experienced nonresolution of their disease likely because of lack of adherence to therapy and died from their infection. The clinical presentation, treatment and outcome of these cases did not significantly differ from cases found in the review of the literature. Clinicians practicing in endemic areas should be aware of this rare but serious form of histoplasmosis. The recognition of 5 cases of CNS histoplasmosis in AIDS patients from a single institution suggests that histoplasmosis should be included in the differential diagnosis of the CNS complications of AIDS. Copyright © 2016 Southern Society for Clinical Investigation. Published by Elsevier Inc. All rights reserved.

Clinical, pathological, and molecular features of classical and L-type atypical-BSE in goats

PubMed Central

D’Angelo, Antonio; Mazza, Maria; Meloni, Daniela; Baioni, Elisa; Maurella, Cristiana; Colussi, Silvia; Martinelli, Nicola; Lo Faro, Monica; Favole, Alessandra; Grifoni, Silvia; Gallo, Marina; Lombardi, Guerino; Iulini, Barbara; Casalone, Cristina; Corona, Cristiano

2018-01-01

Monitoring of small ruminants for transmissible spongiform encephalopathies (TSEs) has recently become more relevant after two natural scrapie suspected cases of goats were found to be positive for classical BSE (C-BSE). C-BSE probably established itself in this species unrecognized, undermining disease control measures. This opens the possibility that TSEs in goats may remain an animal source for human prion diseases. Currently, there are no data regarding the natural presence of the atypical BSE in caprines. Here we report that C-BSE and L-type atypical BSE (L-BSE) isolates from bovine species are intracerebrally transmissible to goats, with a 100% attack rate and a significantly shorter incubation period and survival time after C-BSE than after L-BSE experimental infection, suggesting a lower species barrier for classical agentin goat. All animals showed nearly the same clinical features of disease characterized by skin lesions, including broken hair and alopecia, and abnormal mental status. Histology and immunohistochemistry showed several differences between C-BSE and L-BSE infection, allowing discrimination between the two different strains. The lymphoreticular involvement we observed in the C-BSE positive goats argues in favour of a peripheral distribution of PrPSc similar to classical scrapie. Western blot and other currently approved screening tests detected both strains in the goats and were able to classify negative control animals. These data demonstrate that active surveillance of small ruminants, as applied to fallen stock and/or healthy slaughter populations in European countries, is able to correctly identify and classify classical and L-BSE and ultimately protect public health. PMID:29795663

Effect of different types of classical music played at a veterinary hospital on dog behavior and owner satisfaction.

PubMed

Engler, Whitney J; Bain, Melissa

2017-07-15

OBJECTIVE To determine the effect of different types of classical music played during a veterinary visit on dog behavior and owner satisfaction. DESIGN Prospective randomized controlled study. ANIMALS 74 dogs examined at a veterinary teaching hospital. PROCEDURES Dogs examined for a wellness visit, presurgical health evaluation, or nonurgent illness were exposed to 1 of 3 treatments (modified classical music, the same music in its original format, and no music [control]) while in the examination room. Owners completed a standardized survey regarding the dog's behavior and their satisfaction with the visit. Clinicians completed a separate standardized survey regarding the dog's behavior. Information regarding monetary charges, procedures performed, diagnoses, and physiologic variables was obtained from the electronic medical record after the appointment. RESULTS Owners rated their dog's anxiety level in the waiting room greater than that in the examination room regardless of treatment. Mean anxiety and aggression scores of dogs during the physical examination as rated by owners were significantly greater than those assigned by clinicians. Visit satisfaction for owners exposed to original classical music was significantly greater than that for owners not exposed to music. CONCLUSIONS AND CLINICAL RELEVANCE Results suggested placing a pet and its owner into an examination room instead of a waiting room immediately after clinic arrival may ameliorate pet anxiety during the veterinary visit. Playing classical music at a low volume can be a simple and cost-effective way to improve owner satisfaction with the veterinary visit. Further research is necessary to determine the effects of music on pet anxiety.

Koopman-von Neumann formulation of classical Yang-Mills theories: I

NASA Astrophysics Data System (ADS)

Carta, P.; Gozzi, E.; Mauro, D.

2006-03-01

In this paper we present the Koopman-von Neumann (KvN) formulation of classical non-Abelian gauge field theories. In particular we shall explore the functional (or classical path integral) counterpart of the KvN method. In the quantum path integral quantization of Yang-Mills theories concepts like gauge-fixing and Faddeev-Popov determinant appear in a quite natural way. We will prove that these same objects are needed also in this classical path integral formulation for Yang-Mills theories. We shall also explore the classical path integral counterpart of the BFV formalism and build all the associated universal and gauge charges. These last are quite different from the analog quantum ones and we shall show the relation between the two. This paper lays the foundation of this formalism which, due to the many auxiliary fields present, is rather heavy. Applications to specific topics outlined in the paper will appear in later publications.

Streptococcus pneumoniae urinary tract infection in pedeatrics.

PubMed

Pougnet, Richard; Sapin, Jeanne; De Parscau, Loïc; Pougnet, Laurence

2017-06-01

Streptococcus pneumoniae infections in children are most often lung infections or meningitis. Urinary tract infections are much rarer. We present the case of a urinary tract infection with Streptococcus pneumoniae. The clinical picture was classical. The urine culture showed the presence of Streptococcus pneumoniae in urine (10 4 UFC/mL; with 2 × 10 4 leucocytes/mL). The literature mentions a few cases of such infections. In some studies, the prevalence of Streptococcus pneumoniae in urine of children is less than 1%. Those children mostly present abnormalities of urinary tract. In our case, urinary ultrasound scan have shown the presence of an ectopic kidney in this child. The discussion between the clinician and the biologist has contributed to the discovery of this renal anomaly.

Lemierre's Syndrome – A rare cause of disseminated sepsis requiring multi-organ support

PubMed Central

Misselbrook, Katie

2017-01-01

Lemierre's syndrome is a rare complication of acute pharyngitis characterised by septicaemia with infective thrombophlebitis of the internal jugular vein, most commonly due to Fusobacterium necrophorum. It characteristically affects healthy young adults causing persistent pyrexia and systemic sepsis presenting several days after an initial pharyngitis. Septic emboli seed via the bloodstream to distant sites including the lung, joints, skin, liver, spleen and brain. Prolonged antimicrobial therapy is required and admission to intensive care common. This once rare condition is increasing in incidence but awareness amongst clinicians is low. We present a classic case in a young man who developed multi-organ failure requiring intensive care support and describe the epidemiology, pathophysiology, microbiology, clinical features and management of the disease. PMID:29123565

Rotation Flaps-Principles and Locations.

PubMed

LoPiccolo, Matteo C

2015-10-01

The rotation flap is a classic method of tissue rearrangement. It is a simple yet effective tool for recruiting tissue from areas of laxity and redirecting vectors of tension to reconstruct wounds not amenable to primary closure. This article presents the basic design principles and specific applications of the rotation flap in dermatologic surgery. A Medline search of articles describing rotation flaps published prior to April 1, 2015 was performed, and several prominent texts in dermatologic surgery were reviewed. Information gathered from the above sources is combined with the clinical experience of the author and editors to present surgeons with a guide for planning and executing various rotation flaps. Mastering the technique of the rotation flap will allow a surgeon to repair a wide variety of cutaneous defects.

Neonatal Marfan Syndrome: Report of a Case with an Inherited Splicing Mutation outside the Neonatal Domain

PubMed Central

Le Gloan, Laurianne; Hauet, Quentin; David, Albert; Hanna, Nadine; Arfeuille, Chloé; Arnaud, Pauline; Boileau, Catherine; Romefort, Bénédicte; Benbrik, Nadir; Gournay, Véronique; Joram, Nicolas; Baron, Olivier; Isidor, Bertrand

2016-01-01

We report a child and her mother affected by Marfan syndrome. The child presented with a phenotype of neonatal Marfan syndrome, revealed by acute and refractory heart failure, finally leading to death within the first 4 months of life. Her mother had a common clinical presentation. Genetic analysis revealed an inherited FBN1 mutation. This intronic mutation (c.6163+3_6163+6del), undescribed to date, leads to exon 49 skipping, corresponding to in-frame deletion of 42 amino acids (p.Ile2014_Asp2055del). FBN1 next-generation sequencing did not show any argument for mosaicism. Association in the same family of severe neonatal and classical Marfan syndrome illustrates the intrafamilial phenotype variability. PMID:27022329

Neonatal Marfan Syndrome: Report of a Case with an Inherited Splicing Mutation outside the Neonatal Domain.

PubMed

Le Gloan, Laurianne; Hauet, Quentin; David, Albert; Hanna, Nadine; Arfeuille, Chloé; Arnaud, Pauline; Boileau, Catherine; Romefort, Bénédicte; Benbrik, Nadir; Gournay, Véronique; Joram, Nicolas; Baron, Olivier; Isidor, Bertrand

2016-02-01

We report a child and her mother affected by Marfan syndrome. The child presented with a phenotype of neonatal Marfan syndrome, revealed by acute and refractory heart failure, finally leading to death within the first 4 months of life. Her mother had a common clinical presentation. Genetic analysis revealed an inherited FBN1 mutation. This intronic mutation (c.6163+3_6163+6del), undescribed to date, leads to exon 49 skipping, corresponding to in-frame deletion of 42 amino acids (p.Ile2014_Asp2055del). FBN1 next-generation sequencing did not show any argument for mosaicism. Association in the same family of severe neonatal and classical Marfan syndrome illustrates the intrafamilial phenotype variability.

Splenic abscess in cancer chemotherapy.

PubMed

Ismail, Essadi; El Barni, Rachid; Lahkim, Mohamed; Rokhsi, Redouane; Atmane, Elmehdi; El Fikri, Abdelghani; Bouchama, Rachid; Achour, Abdessamad; Zyani, Mohamed

2015-11-11

Splenic abcess is an uncommon complication for cancer treatment. It occurs more frequently in immunocompromised patients. They are characterized by high mortality. The classic triad (fever, pain of the left hypochondrium, and sensitive mass left) is only present in one-third of cases the clinical spectrum ranging from no symptoms to events such as fever, nausea, vomiting, weight loss, abdominal pain left, splenomegaly. Treatment options are limited, but must be discussed and adapted to the patient profile. We report the case of a 62-year-old Arabic male, diagnosed with metastatic lung adenocarcinoma, who, after several cycles of chemotherapy, presented symptoms and signs of splenic abcess. Splenic abcess is rare situation, which must be actively researched, to have access to an optimal therapeutic approach.

Massive ovarian edema, due to adjacent appendicitis.

PubMed

Callen, Andrew L; Illangasekare, Tushani; Poder, Liina

2017-04-01

Massive ovarian edema is a benign clinical entity, the imaging findings of which can mimic an adnexal mass or ovarian torsion. In the setting of acute abdominal pain, identifying massive ovarian edema is a key in avoiding potential fertility-threatening surgery in young women. In addition, it is important to consider other contributing pathology when ovarian edema is secondary to another process. We present a case of a young woman presenting with subacute abdominal pain, whose initial workup revealed marked enlarged right ovary. Further imaging, diagnostic tests, and eventually diagnostic laparoscopy revealed that the ovarian enlargement was secondary to subacute appendicitis, rather than a primary adnexal process. We review the classic ultrasound and MRI imaging findings and pitfalls that relate to this diagnosis.

The unique entity of nodular lymphocyte-predominant Hodgkin lymphoma: current approaches to diagnosis and management.

PubMed

Hawkes, Eliza A; Wotherspoon, Andrew; Cunningham, David

2012-03-01

Nodular lymphocyte-predominant Hodgkin lymphoma (NLPHL) is a rare disease constituting only 3-8% of all Hodgkin lymphoma. It has a distinct histological and clinical presentation as well as significantly different natural history compared to the classical form of Hodgkin lymphoma. Presenting most often as early-stage disease, NLPHL is characterized by frequent relapses, but paradoxically an overall good prognosis. The approach to management should therefore reflect this pattern and focus on attaining prolonged remissions, with long-term follow-up paramount. Due to the rarity of the disease, few prospective data exist. Options for treatment include radiotherapy, chemotherapy or combined chemotherapy plus radiotherapy and targeted anti-CD20 antibody therapy, as well as observation in selected patients.

Case Report of a 21-Year-Old Man With Epidermolysis Bullosa Acquisita.

PubMed

Cyr, Janelle; Liu, Annie; Ghazarian, Danny; Siddha, Sanjay

Epidermolysis bullosa acquisita (EBA) is a rare acquired type of mechanobullous disease affecting the dermal-epidermal junction (DEJ) of trauma prone acral surfaces. It manifests as tense vesicles, bullae, and milia and typically heals as atrophic hypo- or hyperpigmented scars. Classic noninflammatory mechanobullous EBA typically presents at a mean age of 48 years. A 21-year-old man presented with a 2-year history of nonpainful papular-vesicular lesions on his hands, knees, and toes after minor trauma to these areas. Physical exam revealed postinflammatory hypopigmented scarring and milia to the bilateral dorsal hands and bilateral extensor elbows and knees, with tense blisters on the dorsal hand and patella regions. Direct immunofluorescence revealed strong linear IgG and IgM with weak focal positivity for IgA and C3 at the DEJ. Blood work revealed an increased diffuse gamma region of 71 g/L (6-13 g/L) on serum protein electrophoresis. Pathology showed a fibrotic underlying dermis, with subepidermal bullae and separation and no significant inflammation. The patient was started on colchicine. This case showcases an unusual early age of presentation for mechanobullous EBA and illustrates the importance of interpreting pathology in the context of clinical findings and maintaining a high index of suspicion for EBA in younger patients who present with classic findings. This case is unique as it is the first report of an association between EBA and polyclonal gammopathy and could be suggestive of chronic inflammation, which would fit with our patient's chronic history of EBA.

Specific barriers to the conduct of randomised clinical trials on medical devices.

PubMed

Neugebauer, Edmund A M; Rath, Ana; Antoine, Sunya-Lee; Eikermann, Michaela; Seidel, Doerthe; Koenen, Carsten; Jacobs, Esther; Pieper, Dawid; Laville, Martine; Pitel, Séverine; Martinho, Cecilia; Djurisic, Snezana; Demotes-Mainard, Jacques; Kubiak, Christine; Bertele, Vittorio; Jakobsen, Janus C; Garattini, Silvio; Gluud, Christian

2017-09-13

Medical devices play an important role in the diagnosis, prevention, treatment and care of diseases. However, compared to pharmaceuticals, there is no rigorous formal regulation for demonstration of benefits and exclusion of harms to patients. The medical device industry argues that the classical evidence hierarchy cannot be applied for medical devices, as randomised clinical trials are impossible to perform. This article aims to identify the barriers for randomised clinical trials on medical devices. Systematic literature searches without meta-analysis and internal European Clinical Research Infrastructure Network (ECRIN) communications taking place during face-to-face meetings and telephone conferences from 2013 to 2017 within the context of the ECRIN Integrating Activity (ECRIN-IA) project. In addition to the barriers that exist for all trials, we identified three major barriers for randomised clinical trials on medical devices, namely: (1) randomisation, including timing of assessment, acceptability, blinding, choice of the comparator group and considerations on the learning curve; (2) difficulties in determining appropriate outcomes; and (3) the lack of scientific advice, regulations and transparency. The present review offers potential solutions to break down the barriers identified, and argues for applying the randomised clinical trial design when assessing the benefits and harms of medical devices.

R248G cystic fibrosis transmembrane conductance regulator mutation in three siblings presenting with recurrent acute pancreatitis and reproductive issues: a case series.

PubMed

Villalona, Seiichi; Glover-López, Guillermo; Ortega-García, Juan Antonio; Moya-Quiles, Rosa; Mondejar-López, Pedro; Martínez-Romero, Maria C; Rigabert-Montiel, Mariano; Pastor-Vivero, María D; Sánchez-Solís, Manuel

2017-02-15

Mutational combinations of the cystic fibrosis transmembrane conductance regulator, CFTR, gene have different phenotypic manifestations at the molecular level with varying clinical consequences for individuals possessing such mutations. Reporting cystic fibrosis transmembrane conductance regulator mutations is important in understanding the genotype-phenotype correlations and associated clinical presentations in patients with cystic fibrosis. Understanding the effects of mutations is critical in developing appropriate treatments for individuals affected with cystic fibrosis, non-classic cystic fibrosis, or cystic fibrosis transmembrane conductance regulator-related disorders. This is the first report of related individuals possessing the R248G missense cystic fibrosis transmembrane conductance regulator mutation and we present their associated clinical histories. All three patients are of Spanish descent. Deoxyribonucleic acid analysis revealed that all three siblings possessed a novel c.742A>G mutation, resulting in a p.Arg248Gly (R248G) amino acid change in exon 6 in trans with the known N1303K mutant allele. Case 1 patient is a 39-year-old infertile man presenting with congenital unilateral absence of the vas deferens and recurrent episodes of epigastric pain. Case 2 patient is a 32-year-old woman presenting with periods of infertility, two previous spontaneous abortions, recurrent epigastric pain, and recurrent pancreatitis. Case 3 patient is a 29-year-old woman presenting with recurrent pancreatitis and epigastric pain. We report the genotype-phenotype correlations and clinical manifestations of a novel R248G cystic fibrosis transmembrane conductance regulator mutation: congenital unilateral absence of the vas deferens in males, reduced female fertility, and recurrent acute pancreatitis. In addition, we discuss the possible functional consequences of the mutations at the molecular level.

Modified locally weighted--partial least squares regression improving clinical predictions from infrared spectra of human serum samples.

PubMed

Perez-Guaita, David; Kuligowski, Julia; Quintás, Guillermo; Garrigues, Salvador; Guardia, Miguel de la

2013-03-30

Locally weighted partial least squares regression (LW-PLSR) has been applied to the determination of four clinical parameters in human serum samples (total protein, triglyceride, glucose and urea contents) by Fourier transform infrared (FTIR) spectroscopy. Classical LW-PLSR models were constructed using different spectral regions. For the selection of parameters by LW-PLSR modeling, a multi-parametric study was carried out employing the minimum root-mean square error of cross validation (RMSCV) as objective function. In order to overcome the effect of strong matrix interferences on the predictive accuracy of LW-PLSR models, this work focuses on sample selection. Accordingly, a novel strategy for the development of local models is proposed. It was based on the use of: (i) principal component analysis (PCA) performed on an analyte specific spectral region for identifying most similar sample spectra and (ii) partial least squares regression (PLSR) constructed using the whole spectrum. Results found by using this strategy were compared to those provided by PLSR using the same spectral intervals as for LW-PLSR. Prediction errors found by both, classical and modified LW-PLSR improved those obtained by PLSR. Hence, both proposed approaches were useful for the determination of analytes present in a complex matrix as in the case of human serum samples. Copyright © 2013 Elsevier B.V. All rights reserved.

AB073. Classic infantile-onset Pompe disease: phenotypes and outcomes of 5 Vietnamese patients receiving enzyme replacement therapy

PubMed Central

Nguyen, Khanh Ngoc; Do, Mai Thi Thanh; Can, Ngoc Thi Bich; Hwu, Wuh-Liang; Vu, Dung Chi

2017-01-01

Background Pompe disease (PD) or glycogen storage disease type II is a lysosomal storage disorder, caused by mutations of GAA gene which results in deficiency of acid alpha-glucosidase (GAA) enzyme that involves in metabolism of glycogen in the lysosomes. Its incidence is 1/14,000–1/100,000. PD is divided into three types: classic infantile onset, non-classic infantile onset, and late onset. Early enzyme replacement therapy (ERT) before developing respiratory distress may lead to good outcome. Since 2013, we have identified 16 cases with classic infantile-onset and 5 cases were treated with ERT. Herein, we describe phenotypes and outcomes of five infantile-onset PD patients who received ERT. Methods GAA enzyme assay was done at National Taiwan University Hospital. Results Ages of diagnosis were 12, 38 and 70 days, 5 and 9 months of age. Clinical presentations included macroglossia (5/5), hypertrophic cardiomyopathy (5/5), failure to thrive (5/5), facial weakness and hypotonia (3 patients diagnosed after 70 days of age), respiratory failure (1 patient diagnosed at 9 months of age). All patients had mildly elevated plasma CK (270–380 UI/L) and transaminase (60–260 UI/l). Ages at starting ERT were 28 and 58 days, 3, 6 and 10 months. The time intervals from diagnosis to starting ERT were between 14 days and 1 month. The durations of ERT were 4–22 months. The outcomes were good. All patients had improvement of cardiac functions shown on echocardiography, respiratory status, and motor development. The patient who first received ERT at 10 months of age was reportedly dead at home due to food obstruction at 18 months of age. Current ages of the survivors were 5–24 months. Conclusions Patients with classic infantile-onset PD will have good outcomes if ERT is started early. Newborn screening for this disease is necessary to yield an early diagnosis.

[Functional bowel disorders: impact and limitations of evidence-based medicine].

PubMed

de Saussure, P; Bertolini, D

2006-09-06

Although tremendous efforts have been carried out to explore the physiopathology, classification and therapeutic modalities of functional bowels disorders, these conditions still elude the classical anatomical-clinical approach. This article summarizes recent advances in the field, discusses critically their impact on daily clinical practice and provides some practical recommendations.

The Value of Item Response Theory in Clinical Assessment: A Review

ERIC Educational Resources Information Center

Thomas, Michael L.

2011-01-01

Item response theory (IRT) and related latent variable models represent modern psychometric theory, the successor to classical test theory in psychological assessment. Although IRT has become prevalent in the measurement of ability and achievement, its contributions to clinical domains have been less extensive. Applications of IRT to clinical…

[Anti-Ma2-associated encephalitis and paraneoplastic limbic encephalitis].

PubMed

Yamamoto, Tomotaka; Tsuji, Shoji

2010-08-01

Anti-Ma2-associated encephalitis (or anti-Ma2 encephalitis) is a paraneoplastic neurological syndrome (PNS) characterized by isolated or combined limbic, diencephalic, or brainstem dysfunction. Anti-Ma2 antibodies detected in the serum or cerebrospinal fluid of patients are highly specific for this disease entity and belong to a group of well-characterized onconeuronal antibodies (or classical antibodies). The corresponding antigen, Ma2 is selectively expressed intracellularly in neurons and tumors as is the case with other onconeuronal antigens targeted by classical antibodies. However, in most cases the clinical pictures are different from those of classical PNS and this creates a potential risk of underdiagnosis. Although limbic dysfunction is the most common manifestation in patients with anti-Ma2 encephalitis which is one of the major causes of paraneoplastic limbic encephalitis (LE), it has been reported that less than 30% of the patients with anti-Ma2 LE exhibit clinical presentations typical of the classical description of LE. Of the remaining, many exhibit excessive daytime sleepiness, vertical ophthalmoparesis, or both associated with LE, because of frequent involvement of the diencephalon and/or upper brainstem. Anti-Ma2 LE can also be manifested as a pure psychiatric disturbance such as obsessive-compulsive disorder in a few cases. Some patients develop mesodiencephalic encephalitis with minor involvement of the limbic system, and some may manifest severe hypokinesis. About 40% of the patients with anti-Ma2 antibodies also have antibodies against different epitopes on Ma1, a homologue of Ma2. These patients may have predominant cerebellar and/or brainstem dysfunctions due to more extensive involvement of subtentorial structures. Anti-Ma2 encephalitis is outstanding among other PNS associated with classical antibodies in that the response rate to treatment is relatively high. While it can cause severe neurological deficits or death in a substantial proportion of the patients, approximately one-third show neurological improvement and another 20 - 40% stabilize in response to treatment, including immunotherapy and/or tumor treatment. Patients who have limited CNS involvement and testicular tumors with complete response to therapy are more likely to show neurological improvement. This fact emphasizes the importance of early diagnosis and prompt initiation of therapy. However, it should be noted that even carcinoma in situ, which is difficult to detect can cause severe neurological disorders. In this respect, it is useful to highlight that anti-Ma2 encephalitis is almost always associated with testicular germ cell tumors in men younger than 50 years. We experienced a 40-year-old patient with severe hypokinesis caused by anti-Ma2 encephalitis associated with bilateral intratubular germ-cell neoplasm of the testes. In older men and women, non-small-cell lung cancer is most common but various types of cancers are reported to be associated. In this study,in addition to reviewing the above case we have reviewed the significance of anti-Ma2 antibodies in the diagnosis of anti-Ma2 encephalitis and the clinical features of this disease.

Use of Tc-99 m thyroid scans in borderline congenital hypothyroidism.

PubMed

Oren, Asaf; Wang, Michael Ke; Brnjac, Lori; Mahmud, Farid H; Palmert, Mark R

2016-03-01

Mild or borderline congenital hypothyroidism [often referred to as mild neonatal hyperthyrotropinemia (MNH)] is characterized by an abnormal newborn screen (NBS), followed by mildly elevated TSH and normal FT4 on confirmatory testing. This condition is increasingly observed, but data regarding optimal management are limited. Examine the use of routine technetium thyroid scanning (TS) in the management of MNH. Retrospective study of infants with MNH between 2000 and 2011. We assessed the clinical course of infants with MNH according to TS results; as a comparator, infants with classic congenital hypothyroidism (CH) were analysed in parallel. We identified 69 infants (52% boys) with MNH and 164 (34% boys) with classic CH. TS results were divided into four subgroups: no uptake in 7% of MNH vs 24% of classic CH (P < 0·01), decreased uptake/anatomical abnormalities in 39% vs 46% (p = NS), increased uptake in 35% vs 26% (p = NS) and normal uptake in 19% vs 4% (P < 0·01). In MNH, neither NBS-TSH, confirmatory TSH and FT4, mean LT-4 treatment doses and number of dose escalations, nor post-treatment FT4 and TSH differed among the four subgroups. In contrast, clinical features in infants with classic CH differed among the subgroups. Among MNH infants who reached 3 years of age, trial-off treatment was successful in 6 of 11 (55%) with no apparent difference in success rates among TS subgroups. The information provided by TS during evaluation of MNH does not predict clinical course; obtaining these scans in infants with MNH may not be an effective use of healthcare resources. © 2015 John Wiley & Sons Ltd.

Co-expression of Erns and E2 genes of classical swine fever virus by replication-defective recombinant adenovirus completely protects pigs against virulent challenge with classical swine fever virus.

PubMed

Sun, Yongke; Yang, Yuai; Zheng, Huanli; Xi, Dongmei; Lin, Mingxing; Zhang, Xiaomin; Yang, Linfu; Yan, Yulin; Chu, Xiaohui; Bi, Baoliang

2013-04-01

The objective of this study was to construct a recombinant adenovirus for future CSFV vaccines used in the pig industry for the reduction of losses involved in CSF outbreaks. The Erns and E2 genes of classical swine fever virus (CSFV), which encode the two main protective glycoproteins from the "Shimen" strain of CSFV, were combined and inserted into the replication-defective human adenovirus type-5 and named the rAd-Erns-E2. Nine pigs were randomly assigned to three treatment groups (three pigs in each group) including the rAd-Erns-E2, hAd-CMV control and DMEM control. Intramuscular vaccination with 2×10(6) TCID(50) of the rAd-Erns-E2 was administered two times with an interval of 21 days. At 42 days post inoculation, pigs in all groups were challenged with a lethal dose of 1×10(3) TCID(50) CSFV "Shimen" strain. Observation of clinical signs was made and the existence of CSFV RNA was detected. Animals in the hAd-CMV and DMEM groups showed severe clinical CSF symptoms and were euthanized from 7 to 10 days after the challenge. However, no adverse clinical CSF signs were observed in vaccinated pigs after the administration of rAd-Erns-E2 and even after CSFV challenge. Neither CSFV RNA nor pathological changes were detected in the tissues of interest of the above vaccinated pigs. These results implied that the recombination adenovirus carrying the Erns-E2 genes could be used to prevent swine from classical swine fever. Copyright © 2012 Elsevier Ltd. All rights reserved.

Drug resistance in leishmaniasis: current drug-delivery systems and future perspectives.

PubMed

Yasinzai, Masoom; Khan, Momin; Nadhman, Akhtar; Shahnaz, Gul

2013-10-01

Leishmaniasis is a complex of diseases with numerous clinical manifestations for instance harshness from skin lesions to severe disfigurement and chronic systemic infection in the liver and spleen. So far, the most classical leishmaniasis therapy, despite its documented toxicities, remains pentavalent antimonial compounds. The arvailable therapeutic modalities for leishmaniasis are overwhelmed with resistance to leishmaniasis therapy. Mechanisms of classical drug resistance are often related with the lower drug uptake, increased efflux, the faster drug metabolism, drug target modifications and over-expression of drug transporters. The high prevalence of leishmaniasis and the appearance of resistance to classical drugs reveal the demand to develop and explore novel, less toxic, low cost and more promising therapeutic modalities. The review describes the mechanisms of classical drug resistance and potential drug targets in Leishmania infection. Moreover, current drug-delivery systems and future perspectives towards Leishmaniasis treatment are also covered.

Achondroplasia with 47, xxy karyotype: a case report of the neonatal diagnosis of an extremely unusual association

PubMed Central

2012-01-01

Background The association of achondroplasia and Klinefelter syndrome is extremely rare. To date, five cases have been previously reported, all of them diagnosed beyond the postnatal period, and only one was molecularly characterized. We describe the first case of this unusual association diagnosed in the neonatal period, the clinical findings and the molecular studies undertaken. Case presentation The boy was born at term with clinical and radiological features indicating the diagnosis of achondroplasia or hypochondroplasia combined with the prenatal karyotype of Klinefelter syndrome (47,XXY). Neonatal FGFR3 mutation screening showed that the newborn was heterozygous for the classic achondroplasia G340R mutation. Microsatellite marker analysis showed that the sex chromosome aneuploidy had arisen from a non-disjunction error in paternal meiosis I, with a recombination event in the pseudoautosomal region 1 (PAR1). Conclusion Specific mutation analysis is appropriate to confirm the clinical diagnosis of achondroplasia for appropriate diagnosis, prognosis, and genetic counseling, especially when the karyotype does not explain the abnormal prenatal sonographic findings. In the present case, a recombination event was observed in the PAR1 region, although recombinational events in paternally derived Klinefelter syndrome cases are much rarer than expected. PMID:22747519

The prevalence of endocrinopathies among Lebanese women presenting with hirsutism to an endocrine clinic.

PubMed

Zreik, R S; Nasrallah, Mona P

2014-01-01

Hirsutism is a common condition in women characterized by excessive growth of terminal hair in a male pattern distribution. It may be a manifestation of underlying pathologies. Since there is no data published about the prevalence of endocrinopathies among hirsute women in Lebanon, this study's aim was to reveal the most common etiologies of hirsutism in this population. The study is a descriptive review of cases of 160 females with hirsutism presenting to a single endocrinologist clinic. Data about history, physical exam, blood tests and imaging results were collected after review of medical charts. Out of the 160 cases reviewed, 14 females (8.8%) were left undiagnosed. Out of 146 subjects diagnosed, 72.6% were found to have polycystic ovary syndrome (PCOS), 18.5% idiopathic hirsutism (IH), 4.6% non-classic congenital adrenal hyperplasia, 2.6% hyperprolactinemia, 0.6% Cushing's syndrome and 0.6% hypothyroidism. A higher percentage of irregular menses and a trend for overweight were found among the PCOS group. PCOS remains the most common cause of hirsutism in an endocrine referral clinic, similar to other populations. A low threshold for diagnostic workup is in order, especially when there is associated menstrual irregularity or overweight.

Factitious Disorder Presenting with Attempted Simulation of Fournier’s Gangrene

PubMed Central

Tseng, Joseph; Poullos, Peter

2016-01-01

Fournier’s gangrene is a severe polymicrobial necrotizing fasciitis of the perineal, genital, or perianal regions. The classic presentation is severe pain and swelling with systemic signs. Crepitus and cutaneous necrosis are often seen. Characteristic CT findings include subcutaneous gas and inflammatory stranding. Unless treated aggressively, patients can rapidly become septic and die. Factitious Disorder is the falsification of one’s own of medical or psychological signs and symptoms. Many deceptive methods have been described, from falsely reporting physical or psychological symptoms, to manipulating lab tests, or even injecting or ingesting foreign substances in order to induce illness. We present a case of a 35-year-old man with factitious disorder who attempted to simulate Fournier’s gangrene by injecting his scrotum with air and fluid. We will review the clinical presentation and diagnosis of Factitious Disorder, as well as Fournier’s gangrene. PMID:27761196

Varicella Zoster Virus Necrotizing Retinitis in Two Patients with Idiopathic CD4 Lymphocytopenia.

PubMed

Gupta, Meenakashi; Jardeleza, Maria Stephanie R; Kim, Ivana; Durand, Marlene L; Kim, Leo; Lobo, Ann-Marie

2016-10-01

Progressive outer retinal necrosis (PORN) associated with varicella zoster virus (VZV) is usually diagnosed in HIV positive or immunosuppressed patients. We report two cases of immunocompetent patients with necrotizing viral retinitis found to have idiopathic CD4 lymphocytopenia. Clinical presentation, examination, imaging, and laboratory testing of two patients with VZV retinitis are presented. An HIV negative patient with history of herpes zoster presented with rapid loss of vision and examination consistent with PORN. PCR testing confirmed VZV. Lymphocytopenia was noted with a CD4 count of 25/mm(3). A second HIV negative patient presented with blurred vision and lid swelling and was found to have peripheral VZV retinitis confirmed by PCR. Laboratory workup revealed lymphocytopenia with a CD4 count of 133/mm(3). VZV necrotizing retinitis classic for PORN can occur in HIV negative patients. Idiopathic CD4 lymphocytopenia should be considered healthy patients who develop ocular infections seen in the immunocompromised.

Hirayama disease.

PubMed

Kieser, David C; Cox, P J; Kieser, S C J

2018-06-01

Hirayama disease is an initially progressive disease caused by cervical neck flexion compressing the anterior horns of the lower cervical spinal cord. It is primarily seen in young males of Indian or Asian descent. With increasing dispersion of these populations this condition is increasingly being encountered internationally. This grand round reviews this rare but increasingly recognized condition. We present a classic case of a young Indian male with progressive hand and forearm weakness. We discuss the typical clinical presentation, appropriate investigations and management of this condition. Our patient presented with oblique amyotrophy and underwent a diagnostic flexion MRI scan which revealed anterior translation of the posterior dura with compression of the anterior horns of the lower cervical cord. He has been successfully treated in a cervical collar. This case illustrates the typical presentation, diagnostic investigations and treatment of Hirayama syndrome. It is hoped that this review will alert clinicians of this condition and optimize the management of affected individuals.

Influences on and Limitations of Classical Test Theory Reliability Estimates.

ERIC Educational Resources Information Center

Arnold, Margery E.

It is incorrect to say "the test is reliable" because reliability is a function not only of the test itself, but of many factors. The present paper explains how different factors affect classical reliability estimates such as test-retest, interrater, internal consistency, and equivalent forms coefficients. Furthermore, the limits of classical test…

Why Chinese People Play Western Classical Music: Transcultural Roots of Music Philosophy

ERIC Educational Resources Information Center

Huang, Hao

2012-01-01

This paper addresses the complex relationship between Confucian values and music education in East Asia, particularly its history in China. How does one account for the present "cultural fever" of Western classical music that has infected more than 100 million Chinese practitioners? It is proposed that Western classical music finds…

Milgram's Obedience Study: A Contentious Classic Reinterpreted

ERIC Educational Resources Information Center

Griggs, Richard A.

2017-01-01

Given the many older criticisms of Milgram's obedience study and the more damning recent criticisms based on analyses of materials available in the Milgram archives at Yale, this study has become a contentious classic. Yet, current social psychology textbooks present it as an uncontentious classic, with no coverage of the recent criticisms and…

Efficient classical simulation of the Deutsch-Jozsa and Simon's algorithms

NASA Astrophysics Data System (ADS)

Johansson, Niklas; Larsson, Jan-Åke

2017-09-01

A long-standing aim of quantum information research is to understand what gives quantum computers their advantage. This requires separating problems that need genuinely quantum resources from those for which classical resources are enough. Two examples of quantum speed-up are the Deutsch-Jozsa and Simon's problem, both efficiently solvable on a quantum Turing machine, and both believed to lack efficient classical solutions. Here we present a framework that can simulate both quantum algorithms efficiently, solving the Deutsch-Jozsa problem with probability 1 using only one oracle query, and Simon's problem using linearly many oracle queries, just as expected of an ideal quantum computer. The presented simulation framework is in turn efficiently simulatable in a classical probabilistic Turing machine. This shows that the Deutsch-Jozsa and Simon's problem do not require any genuinely quantum resources, and that the quantum algorithms show no speed-up when compared with their corresponding classical simulation. Finally, this gives insight into what properties are needed in the two algorithms and calls for further study of oracle separation between quantum and classical computation.

Classical Swine Fever-An Updated Review.

PubMed

Blome, Sandra; Staubach, Christoph; Henke, Julia; Carlson, Jolene; Beer, Martin

2017-04-21

Classical swine fever (CSF) remains one of the most important transboundary viral diseases of swine worldwide. The causative agent is CSF virus, a small, enveloped RNA virus of the genus Pestivirus. Based on partial sequences, three genotypes can be distinguished that do not, however, directly correlate with virulence. Depending on both virus and host factors, a wide range of clinical syndromes can be observed and thus, laboratory confirmation is mandatory. To this means, both direct and indirect methods are utilized with an increasing degree of commercialization. Both infections in domestic pigs and wild boar are of great relevance; and wild boars are a reservoir host transmitting the virus sporadically also to pig farms. Control strategies for epidemic outbreaks in free countries are mainly based on classical intervention measures; i.e., quarantine and strict culling of affected herds. In these countries, vaccination is only an emergency option. However, live vaccines are used for controlling the disease in endemically infected regions in Asia, Eastern Europe, the Americas, and some African countries. Here, we will provide a concise, updated review on virus properties, clinical signs and pathology, epidemiology, pathogenesis and immune responses, diagnosis and vaccination possibilities.

On quantum effects in a theory of biological evolution.

PubMed

Martin-Delgado, M A

2012-01-01

We construct a descriptive toy model that considers quantum effects on biological evolution starting from Chaitin's classical framework. There are smart evolution scenarios in which a quantum world is as favorable as classical worlds for evolution to take place. However, in more natural scenarios, the rate of evolution depends on the degree of entanglement present in quantum organisms with respect to classical organisms. If the entanglement is maximal, classical evolution turns out to be more favorable.

On Quantum Effects in a Theory of Biological Evolution

PubMed Central

Martin-Delgado, M. A.

2012-01-01

We construct a descriptive toy model that considers quantum effects on biological evolution starting from Chaitin's classical framework. There are smart evolution scenarios in which a quantum world is as favorable as classical worlds for evolution to take place. However, in more natural scenarios, the rate of evolution depends on the degree of entanglement present in quantum organisms with respect to classical organisms. If the entanglement is maximal, classical evolution turns out to be more favorable. PMID:22413059

Sociology Dismissing Religion? The Presentation of Religious Change in Introductory Sociology Textbooks

ERIC Educational Resources Information Center

Featherstone, Richard; Sorrell, Katie L.

2007-01-01

This paper explores whether the field of sociology harbors a dismissive attitude towards religion. Specifically it examines whether introductory sociology textbooks present the classic secularization theory over the more recent religious economies explanation of religious change. The classical secularization thesis suggests that religion is…

Genomic analysis of bone marrow failure and myelodysplastic syndromes reveals phenotypic and diagnostic complexity

PubMed Central

Zhang, Michael Y.; Keel, Siobán B.; Walsh, Tom; Lee, Ming K.; Gulsuner, Suleyman; Watts, Amanda C.; Pritchard, Colin C.; Salipante, Stephen J.; Jeng, Michael R.; Hofmann, Inga; Williams, David A.; Fleming, Mark D.; Abkowitz, Janis L.; King, Mary-Claire; Shimamura, Akiko

2015-01-01

Accurate and timely diagnosis of inherited bone marrow failure and inherited myelodysplastic syndromes is essential to guide clinical management. Distinguishing inherited from acquired bone marrow failure/myelodysplastic syndrome poses a significant clinical challenge. At present, diagnostic genetic testing for inherited bone marrow failure/myelodysplastic syndrome is performed gene-by-gene, guided by clinical and laboratory evaluation. We hypothesized that standard clinically-directed genetic testing misses patients with cryptic or atypical presentations of inherited bone marrow failure/myelodysplastic syndrome. In order to screen simultaneously for mutations of all classes in bone marrow failure/myelodysplastic syndrome genes, we developed and validated a panel of 85 genes for targeted capture and multiplexed massively parallel sequencing. In patients with clinical diagnoses of Fanconi anemia, genomic analysis resolved subtype assignment, including those of patients with inconclusive complementation test results. Eight out of 71 patients with idiopathic bone marrow failure or myelodysplastic syndrome were found to harbor damaging germline mutations in GATA2, RUNX1, DKC1, or LIG4. All 8 of these patients lacked classical clinical stigmata or laboratory findings of these syndromes and only 4 had a family history suggestive of inherited disease. These results reflect the extensive genetic heterogeneity and phenotypic complexity of bone marrow failure/myelodysplastic syndrome phenotypes. This study supports the integration of broad unbiased genetic screening into the diagnostic workup of children and young adults with bone marrow failure and myelodysplastic syndromes. PMID:25239263

Genetic analysis in Bartter syndrome from India.

PubMed

Sharma, Pradeep Kumar; Saikia, Bhaskar; Sharma, Rachna; Ankur, Kumar; Khilnani, Praveen; Aggarwal, Vinay Kumar; Cheong, Hae

2014-10-01

Bartter syndrome is a group of inherited, salt-losing tubulopathies presenting as hypokalemic metabolic alkalosis with normotensive hyperreninemia and hyperaldosteronism. Around 150 cases have been reported in literature till now. Mutations leading to salt losing tubulopathies are not routinely tested in Indian population. The authors have done the genetic analysis for the first time in the Bartter syndrome on two cases from India. First case was antenatal Bartter syndrome presenting with massive polyuria and hyperkalemia. Mutational analysis revealed compound heterozygous mutations in KCNJ1(ROMK) gene [p(Leu220Phe), p(Thr191Pro)]. Second case had a phenotypic presentation of classical Bartter syndrome however, genetic analysis revealed only heterozygous novel mutation in SLC12A gene p(Ala232Thr). Bartter syndrome is a clinical diagnosis and genetic analysis is recommended for prognostication and genetic counseling.

Strong correlation of elastin deletions, detected by FISH, with Williams syndrome: Evaluation of 235 patients

DOE Office of Scientific and Technical Information (OSTI.GOV)

Lowery, M.C.; Brothman, L.J.; Leonard, C.O.

1995-07-01

Williams syndrome (WS) is generally characterized by mental deficiency, gregarious personality, dysmorphic facies, supravalvular aortic stenosis, and idiopathic infantile hypercalcemia. Patients with WS show allelic loss of elastin (ELN), exhibiting a submicroscopic deletion, at 7q11.23, detectable by FISH. Hemizygosity is likely the cause of vascular abnormalities in WS patients. A series of 235 patients was studied, and molecular cytogenetic deletions were seen in 96% of patients with classic WS. Patients included 195 solicited through the Williams Syndrome Association (WSA), plus 40 clinical cytogenetics cases referred by primary-care physicians. Photographs and medical records of most WSA subjects were reviewed, and patientsmore » were identified as {open_quotes}classic{open_quotes} (n = 114) or{open_quotes}uncertain{close_quotes} (n = 39). An additional 42 WSA patients were evaluated without clinical information. FISH was performed with biotinylated ELN cosmids on metaphase cells from immortalized lymphoblastoid lines from WSA patients and after high-resolution banding analysis on clinical referral patients. An alpha-satellite probe for chromosome 7 was included in hybridizations, as an internal control. Ninety-six percent of the patients with classic WS showed a deletion in one ELN allele; four of these did not show a deletion. Of the uncertain WS patients, only 3 of 39 showed a deletion. Of the 42 who were not classified phenotypically, because of lack of clinical information, 25 patients (60%) showed a deletion. Thirty-eight percent (15/40) of clinical cytogenetics cases showed an ELN deletion and no cytogenetic deletion by banded analysis. These results support the usefulness of FISH for the detection of elastin deletions as an initial diagnostic assay for WS. 14 refs., 2 figs., 4 tabs.« less

Classic and nonclassic HLA class I expression in penile cancer and relation to HPV status and clinical outcome.

PubMed

Djajadiningrat, Rosa S; Horenblas, Simon; Heideman, Daniëlle A M; Sanders, Joyce; de Jong, Jeroen; Jordanova, Ekaterina S

2015-04-01

Loss of expression of HLA class I is a mechanism of immune evasion in various cancers that is often associated with a worse patient outcome. We analyzed HLA expression in a large cohort with penile cancer in relation to clinical outcome. We used penile cancer tissue blocks from 168 patients who underwent surgical resection between 2000 and 2009 to construct tissue microarrays. Immunohistochemical staining was done with antibodies directed against classic and nonclassic HLA molecules. HLA expression was scored semiquantitatively, divided into 3 expression groups and correlated with clinicopathological variables, including HPV and survival. Survival analysis was performed using the Kaplan-Meier method and Cox proportional hazards models. Complete and partial loss of total classic HLA class I was observed in 32% and 50% of cases, and up-regulation of HLA-E and G in 16% and 13%, respectively. When corrected for relevant clinical parameters, partial HLA-A loss was significantly associated with decreased survival overall (HR 2.3, 95% CI 1.1-4.6) and in HPV negative patients alone (HR 3.4, 95% CI 1.4-8.4). Abnormal HLA-B/C, E or G expression levels were not associated with survival. To our knowledge this is the first study to describe a link between HLA expression and the clinical outcome of penile cancer. HLA down-regulation occurs frequently and partial loss of HLA-A is an independent predictor of poor survival in HPV negative patients. Complete understanding of the mechanisms and relevance of HLA down-regulation and immune evasion in regard to the clinical outcome will contribute to the future design of immunotherapy interventions. Copyright © 2015 American Urological Association Education and Research, Inc. Published by Elsevier Inc. All rights reserved.

An 11-year retrospective experience of antibodies against the voltage-gated potassium channel (VGKC) complex from a tertiary neurological centre.

PubMed

Huda, S; Wong, S H; Pettingill, P; O'Connell, D; Vincent, A; Steiger, M

2015-02-01

Acquired diseases classically associated with VGKC-complex antibodies include peripheral nerve hyperexcitability (PNH), Morvan's syndrome, limbic encephalitis (LE), and epilepsy. However, not all such patients have VGKC-complex antibodies and antibodies have been reported in patients without a defined immune-mediated syndrome. To analyse the clinical relevance of positive VGKC-complex antibodies requested on the basis of initial clinical suspicion. We retrospectively analysed patients with positive VGKC-complex antibodies (>100 pM) referred to our institution between 2001 and 2011. 1,614 VGKC-complex assays were performed in 1,298 patients. Titres >100 pM were detected in 57/1,298 (4 %) patients. A classic VGKC-complex channelopathy (60 %) was associated with VGKC-complex antibody titres >400 pM (p = 0.0004). LGI1 or CASPR2 antibodies were only detected in classic VGKC-complex channelopathies (LE; n = 3/4 and PNH; n = 1/5). VGKC-complex antibody titres <400 pM were seen with PNH (n = 15/22; 68 %) but also a heterogeneous range of central and/or peripheral nervous system disorders. Electromyography was supportive of PNH in 65 % of cases and symptomatic treatment was beneficial in 46 % of patients. Irrespective of titre, the rate of malignancy in patients with VGKC-complex antibodies was higher than the age-matched national incidence of malignancy (OR 19.9, 95 % CI 8.97-44.0 p<0.0001). Clinical phenotyping and antibody titres >400 pM can help determine VGKC-complex antibody relevance. Antibody titres <400 pM are associated with PNH but also a more heterogeneous clinical spectrum. The antibody association in the latter is of doubtful clinical relevance. The rate of malignancy was significantly higher than the national incidence irrespective of titre.

Long-Lasting Complete Responses in Patients with Metastatic Melanoma after Adoptive Cell Therapy with Tumor-Infiltrating Lymphocytes and an Attenuated IL2 Regimen.

PubMed

Andersen, Rikke; Donia, Marco; Ellebaek, Eva; Borch, Troels Holz; Kongsted, Per; Iversen, Trine Zeeberg; Hölmich, Lisbet Rosenkrantz; Hendel, Helle Westergren; Met, Özcan; Andersen, Mads Hald; Thor Straten, Per; Svane, Inge Marie

2016-08-01

Adoptive cell transfer therapy (ACT) based on autologous tumor-infiltrating lymphocytes (TIL) has achieved impressive clinical results in several phase I and II trials performed outside of Europe. Although transient, the toxicities associated with high-dose (HD) bolus IL2 classically administered together with TILs are severe. To further scrutinize whether similar results can be achieved with lower doses of IL2, we have carried out a phase I/II trial of TIL transfer after classical lymphodepleting chemotherapy followed by an attenuated IL2 regimen. Twenty-five patients with progressive treatment-refractory metastatic melanoma, good clinical performance, age < 70 years, and at least one resectable metastasis were eligible. TIL infusion was preceded by standard lymphodepleting chemotherapy and followed by attenuated doses of IL2 administered in an intravenous, continuous decrescendo regimen (ClinicalTrials.gov Identifier: NCT00937625). Classical IL2-related toxicities were observed but patients were manageable in a general oncology ward without the need for intervention from the intensive care unit. RECIST 1.0 evaluation displayed three complete responses and seven partial responses (ORR 42%). Median overall survival was 21.8 months. Tumor regression was associated with a higher absolute number of infused tumor-reactive T cells. Moreover, induction and persistence of antimelanoma T-cell responses in the peripheral blood was strongly correlated to clinical response to treatment. TIL-ACT with a reduced IL2 decrescendo regimen results in long-lasting complete responses in patients with treatment-refractory melanoma. Larger randomized trials are needed to elucidate whether clinical efficacy is comparable with TIL-ACT followed by HD bolus IL2. Clin Cancer Res; 22(15); 3734-45. ©2016 AACR. ©2016 American Association for Cancer Research.

Megalencephalic leukoencephalopathy with subcortical cysts: Characterization of disease variants.

PubMed

Hamilton, Eline M C; Tekturk, Pinar; Cialdella, Fia; van Rappard, Diane F; Wolf, Nicole I; Yalcinkaya, Cengiz; Çetinçelik, Ümran; Rajaee, Ahmad; Kariminejad, Ariana; Paprocka, Justyna; Yapici, Zuhal; Bošnjak, Vlatka Mejaški; van der Knaap, Marjo S

2018-04-17

To provide an overview of clinical and MRI characteristics of the different variants of the leukodystrophy megalencephalic leukoencephalopathy with subcortical cysts (MLC) and identify possible differentiating features. We performed an international multi-institutional, cross-sectional observational study of the clinical and MRI characteristics in patients with genetically confirmed MLC. Clinical information was obtained by questionnaires for physicians and retrospective chart review. We included 204 patients with classic MLC, 187 of whom had recessive mutations in MLC1 (MLC1 variant) and 17 in GLIALCAM (MLC2A variant) and 38 patients with remitting MLC caused by dominant GLIALCAM mutations (MLC2B variant). We observed a relatively wide variability in neurologic disability among patients with classic MLC. No clinical differences could be identified between patients with MLC1 and MLC2A. Patients with MLC2B invariably had a milder phenotype with preservation of motor function, while intellectual disability and autism were relatively frequent. Systematic MRI review revealed no MRI features that distinguish between MLC1 and MLC2A. Radiologic improvement was observed in all patients with MLC2B and also in 2 patients with MLC1. In MRIs obtained in the early disease stage, absence of signal abnormalities of the posterior limb of the internal capsule and cerebellar white matter and presence of only rarefied subcortical white matter instead of true subcortical cysts were suggestive of MLC2B. Clinical and MRI features did not distinguish between classic MLC with MLC1 or GLIALCAM mutations. Absence of signal abnormalities of the internal capsule and cerebellar white matter are MRI findings that point to the remitting phenotype. Copyright © 2018 The Author(s). Published by Wolters Kluwer Health, Inc. on behalf of the American Academy of Neurology.

Virus load in pigs affected with different clinical forms of classical swine fever.

PubMed

Rout, M; Saikumar, G

2012-04-01

Classical swine fever (CSF) is an endemic disease in India, but the real magnitude of the problem is not known as only outbreaks of acute CSF are reported and many cases of chronic and clinically inapparent forms of the disease, which manifest a confusing clinical picture, remain undiagnosed. The real status of classical swine fever virus (CSFV) infection can only be known by testing pigs with highly specific and sensitive diagnostic assays. To obtain the baseline prevalence of CSFV infection among pigs in an endemic region where no vaccination was being performed, a real-time PCR assay was used to detect viral genetic material in tissue samples collected from a slaughterhouse in the northern state of Uttar Pradesh in India. In total, 1120 slaughtered pigs were examined for the presence of CSF suggestive pathological lesions and tissues from suspected cases were tested for the presence of CSFV antigen and nucleic acids by indirect immuno-peroxidase test and real-time PCR, respectively. Based on the detection of viral genetic material in the tonsils, the prevalence of CSFV infection among slaughtered pigs was found to be 7.67%. Pigs detected positive for viral genome by quantitative real-time PCR assay when categorized into different forms of CSF, depending upon the pathological lesions observed, the viral load in the tonsils of some of the pigs with chronic or clinically inapparent form of the disease was similar to that detected in pigs with acute CSF. The results of the study suggested that the risk posed by pigs with chronic disease or those infected but showing no clinical disease may be relatively higher as they can transmit the virus to new susceptible hosts over a longer period of time. © 2011 Blackwell Verlag GmbH.

Enhanced auditory temporal gap detection in listeners with musical training.

PubMed

Mishra, Srikanta K; Panda, Manas R; Herbert, Carolyn

2014-08-01

Many features of auditory perception are positively altered in musicians. Traditionally auditory mechanisms in musicians are investigated using the Western-classical musician model. The objective of the present study was to adopt an alternative model-Indian-classical music-to further investigate auditory temporal processing in musicians. This study presents that musicians have significantly lower across-channel gap detection thresholds compared to nonmusicians. Use of the South Indian musician model provides an increased external validity for the prediction, from studies on Western-classical musicians, that auditory temporal coding is enhanced in musicians.

Privacy protection for clinical and genomic data. The use of privacy-enhancing techniques in medicine.

PubMed

Claerhout, B; DeMoor, G J E

2005-03-01

Privacy includes the right of individuals and organisations to determine for themselves when, how and to what extent information about them is communicated to others. The growing need of managing large amounts of both clinical and genetic data raises important legal and ethical challenges. This paper introduces some of the privacy-protection problems related to classical and genomic medicine, and highlights the relevance of trusted third parties and of privacy-enhancing techniques (PETs) in the context of data collection, e.g., for research. Practical approaches based on two pseudonymisation models, for both batch data collection and interactive data storage, are presented. The actual application of the described techniques today proves the possible benefits for medicine that innovative privacy-enhancing techniques can provide. Technical PET solutions can unlock valuable data sources, otherwise not available.

Elephantiasis nostras verrucosa or "mossy foot lesions" in lymphedema praecox: report of a case.

PubMed

Duckworth, Amy L; Husain, Jugnoo; Deheer, Patrick

2008-01-01

Elephantiasis nostras verrucosa is a rare disorder that results from chronic obstructive lymphedema. It is characterized clinically by deforming, nonpitting edema; malodorous hyperkeratosis with generalized lichenification; cobblestoned papules; and verrucous changes, that often result in extreme enlargement of the involved body part. Although elephantiasis nostras verrucosa is striking in clinical appearance, biopsy reveals only moderately abnormal findings: pseudoepitheliomatous hyperplasia with dilated lymphatic spaces in the dermis, accompanied by chronic inflammation and fibroblast proliferation. The term elephantiasis nostras (nostras means "from our region") has traditionally been used to differentiate temperate zone disease from the classic disease process, elephantiasis tropica, which is defined by chronic filarial lymphatic obstruction caused by Wuchereria bancrofti, Wuchereria malayi, or Wuchereria pacifica. We present a case report of elephantiasis nostras verrucosa arising as a result of lymphedema praecox.

[Child sexual abuse: clinical perspectives and ethico-legal dilemmas].

PubMed

Franco, Alvaro; Ramírez, Luis

2016-01-01

In the review of the current literature, the main causing factors of the related conditions with child sexual abuse are the ethical dilemmas and legal implications. A review was conducted on the classic literature on this topic. In this articlesome difficult paradigmatic cases are presented in which the hypothetical dilemmas were solved. The main characteristics of child sexual abuse enable us to have a better argument to address these situations. Taking into account the literature reviewed and predictable courses of action, it is concluded that it is important to take into account each individual each case and its circumstances, and that prudence and clinical objectivity, as well as knowledge of the law, become essential requirements for proper action. Copyright © 2015 Asociación Colombiana de Psiquiatría. Publicado por Elsevier España. All rights reserved.

Mechanical ventilation in acute respiratory distress syndrome: The open lung revisited.

PubMed

Amado-Rodríguez, L; Del Busto, C; García-Prieto, E; Albaiceta, G M

2017-12-01

Acute respiratory distress syndrome (ARDS) is still related to high mortality and morbidity rates. Most patients with ARDS will require ventilatory support. This treatment has a direct impact upon patient outcome and is associated to major side effects. In this regard, ventilator-associated lung injury (VALI) is the main concern when this technique is used. The ultimate mechanisms of VALI and its management are under constant evolution. The present review describes the classical mechanisms of VALI and how they have evolved with recent findings from physiopathological and clinical studies, with the aim of analyzing the clinical implications derived from them. Lastly, a series of knowledge-based recommendations are proposed that can be helpful for the ventilator assisted management of ARDS at the patient bedside. Copyright © 2017 Elsevier España, S.L.U. y SEMICYUC. All rights reserved.

Unexplained Dyspnea in a Young Adult with Epstein-Barr Virus Infectious Mononucleosis: Pulmonary Involvement or Co-Infection with Mycoplasma pneumoniae Pneumonia?

PubMed

Cunha, Burke A; Herrarte Fornos, Scarlet

2017-09-04

Clinically, in young immunocompetent adults, Epstein-Barr virus (EBV) usually manifests as infectious mononucleosis (IM). Typical clinical findings of EBV IM include fever, profound fatigue, pharyngitis, bilateral posterior cervical adenopathy, and splenomegaly. Respiratory involvement with EBV IM may occur, but is distinctly rare. We present a case of a 20 year old female who with classic EBV IM, but was inexplicably dyspneic and hypoxemic. Further diagnostic testing confirmed co-infection with Mycoplasma pneumoniae . As a non-zoonotic atypical community-acquired pneumonia (CAP), M. pneumoniae may rarely be accompanied by severe hypoxemia and even acute respiratory distress syndrome. She represented a diagnostic dilemma regarding the cause of her hypoxemia, i.e., due to EBV IM with pulmonary involvement or severe M. pneumoniae CAP. The patient slowly recovered with respiratory quinolone therapy.

Clinical and genetic characterization of classical forms of familial adenomatous polyposis: a Spanish population study.

PubMed

Rivera, B; González, S; Sánchez-Tomé, E; Blanco, I; Mercadillo, F; Letón, R; Benítez, J; Robledo, M; Capellá, G; Urioste, M

2011-04-01

Classical familial adenomatous polyposis (FAP) is characterized by the appearance of >100 colorectal adenomas. We screened the APC and MUTYH genes for mutations and evaluated the genotype-phenotype correlation in 136 Spanish classical FAP families. APC/MUTYH mutations were detected in 107 families. Sixty-four distinct APC point mutations were detected in 95 families of which all were truncating mutations. A significant proportion (39.6%) had not been previously reported. Mutations were spread over the entire coding region and great rearrangements were identified in six families. Another six families exhibited biallelic MUTYH mutations. No APC or MUTYH mutations were detected in 29 families. These APC/MUTYH-negative families showed clinical differences with the APC-positive families. A poor correlation between phenotype and mutation site was observed. Our results highlight that a broad approach in the genetic study must be considered for classical FAP due to involvement of both APC and MUTYH and the heterogeneous spectrum of APC mutations observed in this Spanish population. The scarcely consistent genotype-phenotype correlation does not allow making specific recommendations regarding screening and management. Differences observed in APC/MUTYH-negative families may reflect a genetic basis other than mutations in APC and MUTYH genes for FAP predisposition. © The Author 2010. Published by Oxford University Press on behalf of the European Society for Medical Oncology.

Splenic infarction: an update on William Osler's observations.

PubMed

Lawrence, Yaacov R; Pokroy, Russell; Berlowitz, Daniel; Aharoni, Dvora; Hain, Daniel; Breuer, Gabriel S

2010-06-01

Osler taught that splenic infarction presents with left upper abdominal quadrant pain, tenderness and swelling accompanied by a peritoneal friction rub. Splenic infarction is classically associated with bacterial endocarditis and sickle cell disease. To describe the contemporary experience of splenic infarction. We conducted a chart review of inpatients diagnosed with splenic infarction in a Jerusalem hospital between 1990 and 2003. We identified 26 cases with a mean age of 52 years. Common causes were hematologic malignancy (six cases) and intracardiac thrombus (five cases). Only three cases were associated with bacterial endocarditis. In 21 cases the splenic infarction brought a previously undiagnosed underlying disease to attention. Only half the subjects complained of localized left-sided abdominal pain, 36% had left-sided abdominal tenderness; 31% had no signs or symptoms localized to the splenic area, 36% had fever, 56% had leukocytosis and 71% had elevated lactate dehydrogenase levels. One splenectomy was performed and all patients survived to discharge. A post hoc analysis demonstrated that single infarcts were more likely to be associated with fever (20% vs. 63%, p < 0.05) and leukocytosis (75% vs. 33%, P = 0.06) The clinical presentation of splenic infarction in the modern era differs greatly from the classical teaching, regarding etiology, signs and symptoms. In patients with unexplained splenic infarction, investigation frequently uncovers a new underlying diagnosis.

Clinical Validation of the Nursing Outcome "Swallowing Status" in People with Stroke: Analysis According to the Classical and Item Response Theories.

PubMed

Oliveira-Kumakura, Ana Railka de Souza; de Araujo, Thelma Leite; Costa, Alice Gabrielle de Sousa; Cavalcante, Tahissa Frota; Lopes, Marcos Venícios de Oliveira; Carvalho, Emilia Campos

2017-09-19

To validate clinically the nursing outcome "Swallowing status". The adjustment of the nursing outcome was investigated according to the Classical and Item Response Theories. The models were compared regarding information loss, goodness-of-fit, and differential item functioning. Stability and internal consistency were examined. The nursing outcome has the best fit in the generalized partial credit model with different discrimination parameters. Strong correlations among the scores of each indicator were observed. There was no differential item functioning of the outcome indicators. The scale presented high internal consistency (Cronbach's α = .954) and stability (and > .800). This study presents a valid nursing outcome. Most accurate monitoring of sensitivity to an intervention. Validar clinicamente o resultado de enefermagem "Estado da Deglutição". MÉTODOS: O ajustamento do resultado foi investigado de acordo com as teorias Clássica e de Resposta ao Item. Os modelos foram comparados assumindo parâmetros de itens cruzados de igual discriminação. Investigaram-se as propriedades de bondade do ajuste, funcionamento diferencial dos itens, estabilidade e consistência interna. O resultado se ajustou melhor a partir do Modelo de crédito parcial generalizado, o qual demonstrou unidimensionalidade do resultado e forte correlação entre os escores de cada indicador. Não houve funcionamento diferencial dos indicadores. A consistência interna para a escala global (Cronbach's α = .954) e a estabilidade (>.800) mantiveram-se elevadas. CONCLUSÃO: O estudo apresenta um resultado de enfermagem válido. RELEVÂNCIA PARA A PRÁTICA CLÍNICA: Maior acurácia para monitorar a sensibilidade da intervenção. © 2017 NANDA International, Inc.

'Unconventional' experiments in biology and medicine with optimized design based on quantum-like correlations.

PubMed

Beauvais, Francis

2017-02-01

In previous articles, a description of 'unconventional' experiments (e.g. in vitro or clinical studies based on high dilutions, 'memory of water' or homeopathy) using quantum-like probability was proposed. Because the mathematical formulations of quantum logic are frequently an obstacle for physicians and biologists, a modified modeling that rests on classical probability is described in the present article. This modeling is inspired from a relational interpretation of quantum physics that applies not only to microscopic objects, but also to macroscopic structures, including experimental devices and observers. In this framework, any outcome of an experiment is not an absolute property of the observed system as usually considered but is expressed relatively to an observer. A team of interacting observers is thus described from an external view point based on two principles: the outcomes of experiments are expressed relatively to each observer and the observers agree on outcomes when they interact with each other. If probability fluctuations are also taken into account, correlations between 'expected' and observed outcomes emerge. Moreover, quantum-like correlations are predicted in experiments with local blind design but not with centralized blind design. No assumption on 'memory' or other physical modification of water is necessary in the present description although such hypotheses cannot be formally discarded. In conclusion, a simple modeling of 'unconventional' experiments based on classical probability is now available and its predictions can be tested. The underlying concepts are sufficiently intuitive to be spread into the homeopathy community and beyond. It is hoped that this modeling will encourage new studies with optimized designs for in vitro experiments and clinical trials. Copyright © 2017 The Faculty of Homeopathy. Published by Elsevier Ltd. All rights reserved.

Pre-diagnostic Clinical Presentations and Medical History Prior to the Diagnosis of Inflammatory Bowel Disease in Children.

PubMed

Kwon, Yong Hoon; Kim, Yong Joo

2013-09-01

The clinical presentations of inflammatory bowel disease (IBD) prior to diagnosis are so diverse or vague that many of them waste time before final diagnosis. This study was undertaken to know the medical history of the pediatric patients until the final diagnosis could be reached. The medical records of all pediatric patients who were diagnosed with IBD (Crohn's disease [CD] in 14 children, ulcerative colitis [UC] in 17) during the last 13 years were reviewed. We investigated the length of the diagnostic time lag, chief clinical presentation, and any useful laboratory predictor among the routinely performed examinations. Indeterminate colitis was not included. The mean ages of children at the final diagnosis was similar in both diseases. As for the pre-clinical past history of bowel symptoms in CD patients, 5 were previously healthy, 9 had had 1-3 gastrointestinal (GI) symptoms, weight loss, bloody stool, anemia and rectal prolapse. With UC, 9 were previously healthy, 8 had had 1-3 GI symptoms, bloody stool, anorexia. The average diagnostic time lag with CD was 3.36 months, and with UC 2.2 months. Body mass index (BMI) and the initial basic laboratory data (white blood cell, hemoglobin, mean corpuscular volume, serum albumin, and serum total protein) were lower in CD, statistically significant only in BMI. IBD shows diverse clinical symptoms before its classical features, making the patients waste time until diagnosis. It is important to concern possibility of IBD even in the mildly sick children who do not show the characteristic symptoms of IBD.

Umbral orthogonal polynomials

DOE Office of Scientific and Technical Information (OSTI.GOV)

Lopez-Sendino, J. E.; del Olmo, M. A.

2010-12-23

We present an umbral operator version of the classical orthogonal polynomials. We obtain three families which are the umbral counterpart of the Jacobi, Laguerre and Hermite polynomials in the classical case.

Poster — Thur Eve — 46: Monte Carlo model of the Novalis Classic 6MV stereotactic linear accelerator using the GATE simulation platform

DOE Office of Scientific and Technical Information (OSTI.GOV)

Wiebe, J; Department of Physics and Astronomy, University of Calgary, Calgary, AB; Ploquin, N

2014-08-15

Monte Carlo (MC) simulation is accepted as the most accurate method to predict dose deposition when compared to other methods in radiation treatment planning. Current dose calculation algorithms used for treatment planning can become inaccurate when small radiation fields and tissue inhomogeneities are present. At our centre the Novalis Classic linear accelerator (linac) is used for Stereotactic Radiosurgery (SRS). The first MC model to date of the Novalis Classic linac was developed at our centre using the Geant4 Application for Tomographic Emission (GATE) simulation platform. GATE is relatively new, open source MC software built from CERN's Geometry and Tracking 4more » (Geant4) toolkit. The linac geometry was modeled using manufacturer specifications, as well as in-house measurements of the micro MLC's. Among multiple model parameters, the initial electron beam was adjusted so that calculated depth dose curves agreed with measured values. Simulations were run on the European Grid Infrastructure through GateLab. Simulation time is approximately 8 hours on GateLab for a complete head model simulation to acquire a phase space file. Current results have a majority of points within 3% of the measured dose values for square field sizes ranging from 6×6 mm{sup 2} to 98×98 mm{sup 2} (maximum field size on the Novalis Classic linac) at 100 cm SSD. The x-ray spectrum was determined from the MC data as well. The model provides an investigation into GATE'S capabilities and has the potential to be used as a research tool and an independent dose calculation engine for clinical treatment plans.« less

Systematic Epstein-Barr virus-positive T-cell lymphoproliferative disease presenting as a persistent fever and cough: a case report.

PubMed

Ameli, Fereshteh; Ghafourian, Firouzeh; Masir, Noraidah

2014-08-27

Systemic Epstein-Barr virus-positive T-cell lymphoproliferative childhood disease is an extremely rare disorder and classically arises following primary acute or chronic active Epstein-Barr virus infection. It is characterized by clonal proliferation of Epstein-Barr virus-infected T-cells with an activated cytotoxic phenotype. This disease has a rapid clinical course and is more frequent in Asia and South America, with relatively few cases being reported in Western countries. The clinical and pathological features of the disease overlap with other conditions including infectious mononucleosis, chronic active Epstein-Barr virus infection, hemophagocytic lymphohistiocytosis and natural killer cell malignancies. We describe the rare case of systemic Epstein-Barr virus-positive T-cell lymphoproliferative childhood disease in a 16-year-old Malay boy. He presented with a six-month history of fever and cough, with pulmonary and mediastinal lymphadenopathy and severe pancytopenia. Medium- to large-sized, CD8+ and Epstein-Barr virus-encoded RNA-positive atypical lymphoid cells were present in the bone marrow aspirate. He subsequently developed fatal virus-associated hemophagocytic syndrome and died due to sepsis and multiorgan failure. Although systemic Epstein-Barr virus-positive T-cell lymphoproliferative childhood disease is a disorder which is rarely encountered in clinical practice, our case report underlines the importance of a comprehensive diagnostic approach in the management of this disease. A high level of awareness of the disease throughout the diagnosis process for young patients who present with systemic illness and hemophagocytic syndrome may be of great help for the clinical diagnosis of this disease.

Colorectal Cancer Classification and Cell Heterogeneity: A Systems Oncology Approach

PubMed Central

Blanco-Calvo, Moisés; Concha, Ángel; Figueroa, Angélica; Garrido, Federico; Valladares-Ayerbes, Manuel

2015-01-01

Colorectal cancer is a heterogeneous disease that manifests through diverse clinical scenarios. During many years, our knowledge about the variability of colorectal tumors was limited to the histopathological analysis from which generic classifications associated with different clinical expectations are derived. However, currently we are beginning to understand that under the intense pathological and clinical variability of these tumors there underlies strong genetic and biological heterogeneity. Thus, with the increasing available information of inter-tumor and intra-tumor heterogeneity, the classical pathological approach is being displaced in favor of novel molecular classifications. In the present article, we summarize the most relevant proposals of molecular classifications obtained from the analysis of colorectal tumors using powerful high throughput techniques and devices. We also discuss the role that cancer systems biology may play in the integration and interpretation of the high amount of data generated and the challenges to be addressed in the future development of precision oncology. In addition, we review the current state of implementation of these novel tools in the pathological laboratory and in clinical practice. PMID:26084042

[Iron deficiency anaemia: clinical presentation, biological diagnosis and management].

PubMed

Espanel, C; Kafando, E; Hérault, B; Petit, A; Herault, O; Binet, C

2007-05-01

The iron deficiency is the first cause of anaemia. In healthy young adult, anemia is well tolerated because of its progressive installation. The most common symptoms of anemia are pallor, fatigue and dyspnea. In biological exams, anemia is classically associated with microcytosis and hypochromia. The origins of microcytic anemia are iron deficiency, inflammatory aetiologies, thalassemia and sideroblastic anaemia. The iron-deficiency diagnosis includes two explorations: biological and clinical. The biological exploration is based on interpretation of serum biologics tests as blood iron, ferritin, transferrin with saturation, total iron-binding capacity and its soluble receptors. This interpretation is simple if it is not associated with clinical disorders influencing the internal iron cycle. The clinical exploration must always be followed by a careful assessment of the underlying cause as blood loss. The most common causes in women of reproductive age are gynaecologic. In men and menopausal women, the gastrointestinal tract bleeding is source of anemia. Therapeutic management of anemia is oral iron therapy. Etiological diagnostic of microcytosis is essential before iron therapy. If not, the treatment could be inefficient or it could mask or delay the etiological diagnostic.

Psychotherapy research needs theory. Outline for an epistemology of the clinical exchange.

PubMed

Salvatore, Sergio

2011-09-01

This paper provides an analysis of a basic assumption grounding the clinical research: the ontological autonomy of psychotherapy-based on the idea that the clinical exchange is sufficiently distinguished from other social objects (i.e. exchange between teacher and pupils, or between buyer and seller, or interaction during dinner, and so forth). A criticism of such an assumption is discussed together with the proposal of a different epistemological interpretation, based on the distinction between communicative dynamics and the process of psychotherapy-psychotherapy is a goal-oriented process based on the general dynamics of human communication. Theoretical and methodological implications are drawn from such a view: It allows further sources of knowledge to be integrated within clinical research (i.e. those coming from other domains of analysis of human communication); it also enables a more abstract definition of the psychotherapy process to be developed, leading to innovative views of classical critical issues, like the specific-nonspecific debate. The final part of the paper is devoted to presenting a model of human communication--the Semiotic Dialogical Dialectic Theory--which is meant as the framework for the analysis of psychotherapy.

A case of infantile osteopetrosis: The radioclinical features with literature update.

PubMed

El-Sobky, Tamer Ahmed; Elsobky, Ezzat; Sadek, Ismaiel; Elsayed, Solaf M; Khattab, Mohamed Fawzy

2016-06-01

Osteopetrosis is a rare hereditary metabolic bone disorder characterized by generalized skeletal sclerosis caused by a defect in bone resorption and remodelling. Infantile autosomal recessive osteopetrosis is one of three subtypes of osteopetrosis and the most severe form. The correct and early diagnosis of infantile osteopetrosis is important for management of complications and for future genetic counselling. Diagnosis is largely based on clinical and radiographic evaluation, confirmed by gene testing where applicable. Therefore, in this case study the classical clinical and radiological signs of a boy with infantile osteopetrosis will be presented with a comprehensive literature update. The differentiating signs from other causes of hereditary osteosclerosing dysplasias are discussed. This case study and review of available literature show that there tends to be a highly unique clinical and skeletal radiographic pattern of affection in infantile osteopetrosis. Although tremendous advances have been made in the elucidation of the genetic defect of osteopetrosis over the past years, the role of accurate clinical and radiological assessment remains an important contributor to the diagnosis of infantile osteopetrosis.

Satisfaction with Life Scale (SWLS) in Caregivers of Clinically-Referred Youth: Psychometric Properties and Mediation Analysis

PubMed Central

Athay, M. Michele

2012-01-01

This paper presents the psychometric evaluation of the Satisfaction with Life Scale (SWLS; Diener, Emmons, Larson & Griffen, 1985) used with a large sample (N = 610) of caregivers for youth receiving mental health services. Methods from classical test theory, factor analysis and item response theory are utilized. Additionally, this paper investigates whether caregiver strain mediates the effect of youth symptom severity on caregiver life satisfaction (N = 356). Bootstrapped confidence intervals are used to determine the significance of the mediated effects. Results indicate that the SWLS is a psychometrically sound instrument to be used with caregivers of clinically-referred youth. Mediation analyses found that the effect of youth symptom severity on caregiver life satisfaction is mediated by caregiver strain but that the mediation effect differs based on the type of youth symptoms. Caregiver strain is a partial mediator when externalizing symptoms are measured and a full mediator when internalizing symptoms are measured. Implications for future research and clinical practice are discussed. PMID:22407554

Diagnostic Value of Positive Findings of Toxoplasma gondii-Specific Immunoglobulin M Serum Antibody in Uveitis Patients to Confirm Ocular Toxoplasmosis.

PubMed

Park, Sung Who; Kim, So Hee; Kwon, Han Jo; Lee, Seung Min; Byon, Ik Soo; Lee, Ji Eun

2018-03-07

To assess the value of positive immunoglobulin (Ig) M serum antibody (Ab) findings in uveitis patients. We reviewed medical records of patients who had a positive serological test for Toxoplasma gondii-specific IgM Ab. Their clinical data, including history, demographic characteristics, laboratory findings, clinical findings, treatment outcomes, and recurrences, were reviewed retrospectively. Of 2919 uveitis patients who underwent a serological test for suspected ocular toxoplasmosis (OT), 18 presented with positive Ig M results. All 18 patients (100.0% specificity) were clinically diagnosed with OT. None had any retinochoroidal scar at the initial visit, indicating the OT was a recent and primary infection. However, 15 patients (83.3%) had no history suspected to account for the Toxoplasma transmission. The T. gondii IgM serum Ab is a specific biomarker for diagnosis of primary OT. Epidemiological studies are warranted to investigate the non-classic transmission routes of T. gondii in OT.

The development and organizing function of perversion: the example of transvestism.

PubMed

Meyer, Jon

2011-04-01

Perversion had been viewed as oedipally determined and in a reciprocal relationship with neurosis. In our widening scope, however, pre-oedipal and traumatic contributions have been increasingly emphasized. While both perspectives represent aspects of clinical reality, the tendency has been to overlook sexual and aggressive drive derivatives, with their related conflicts, object representations, and symbolic enactments, even though they may make significant contributions to the analytic situation. These latter, 'classical' patients have what I consider 'organized' perversions: complex, evolved, neurotic-level, stable psychopathological formations that may be distinguished from borderline or near psychotic syndromes enlisting perverse mechanisms to ward off disorganization. This paper will review Freud's work, briefly consider some recent trends in conceptualizing perversion and perverse mechanisms, characterize organized perversion, and present clinical material to illustrate its evolution, clinical manifestations, and analysis. Transsexualism, overtly similar to transvestism but not functioning as an organized perversion, will serve as a point of contrast. Copyright © 2011 Institute of Psychoanalysis.

Translating findings from basic fear research to clinical psychiatry in Puerto Rico

PubMed Central

Quirk, Gregory J.; Martinez, Karen G.; Nazario Rodríguez, Lelis L.

2009-01-01

Recent advances in the neuroscience of classical fear conditioning from both rodent and human studies are beginning to be translated to the psychiatry clinic. In particular, our understanding of fear extinction as a form of “safety learning” holds promise for the treatment of anxiety disorders in which extinction learning is thought to be compromised. The Department of Psychiatry at the UPR, School of Medicine promotes the development of innovative strategies for treating mental health problems. Given the burden resulting from anxiety disorders in Puerto Rico, and the lack of evidence-based treatment practices, there is a pressing need for a future center specializing in the treatment of anxiety related disorders. This center would also serve research and training functions, with the ultimate goal of translating extinction research into clinical practice. This review presents the current developments in extinction research and its relationship to anxiety disorders and treatment. We also analyze the available literature on the epidemiology of anxiety disorders and the existing evidence-based treatments for these conditions. PMID:18246959

Long-term Continuous EEG Monitoring in Small Rodent Models of Human Disease Using the Epoch Wireless Transmitter System

PubMed Central

Zayachkivsky, Andrew; Lehmkuhle, Mark J.; Dudek, F. Edward

2015-01-01

Many progressive neurologic diseases in humans, such as epilepsy, require pre-clinical animal models that slowly develop the disease in order to test interventions at various stages of the disease process. These animal models are particularly difficult to implement in immature rodents, a classic model organism for laboratory study of these disorders. Recording continuous EEG in young animal models of seizures and other neurological disorders presents a technical challenge due to the small physical size of young rodents and their dependence on the dam prior to weaning. Therefore, there is not only a clear need for improving pre-clinical research that will better identify those therapies suitable for translation to the clinic but also a need for new devices capable of recording continuous EEG in immature rodents. Here, we describe the technology behind and demonstrate the use of a novel miniature telemetry system, specifically engineered for use in immature rats or mice, which is also effective for use in adult animals. PMID:26274779

Patients with Ehlers Danlos syndrome and CRPS: a possible association?

PubMed

Stoler, Joan M; Oaklander, Anne Louise

2006-07-01

Rare patients are left with chronic pain, vasodysregulation, and other symptoms that define complex regional pain syndrome (CRPS), after limb traumas. The predisposing factors are unknown. Genetic factors undoubtedly contribute, but have not yet been identified. We report four CRPS patients also diagnosed with the classical or hypermobility forms of Ehlers Danlos syndrome (EDS), inherited disorders of connective tissue. These patients had been diagnosed using standard diagnostic criteria for CRPS and for EDS. All had sustained joint injury; in three this had been surgically treated. The association of these two diagnoses leads us to hypothesize that EDS might contribute to the development of CRPS in one or more of the following ways: via stretch injury to nerves traversing hypermobile joints, increased fragility of nerve connective tissue, or nerve trauma from more frequent surgery. We review the clinical presentation of the different Ehlers Danlos syndromes and provide clinical criteria that can be used to screen CRPS patients for EDS for clinical or research purposes.

Clinical Significance and Pathogenesis of Staphylococcal Small Colony Variants in Persistent Infections

PubMed Central

Becker, Karsten; Löffler, Bettina

2016-01-01

SUMMARY Small colony variants (SCVs) were first described more than 100 years ago for Staphylococcus aureus and various coagulase-negative staphylococci. Two decades ago, an association between chronic staphylococcal infections and the presence of SCVs was observed. Since then, many clinical studies and observations have been published which tie recurrent, persistent staphylococcal infections, including device-associated infections, bone and tissue infections, and airway infections of cystic fibrosis patients, to this special phenotype. By their intracellular lifestyle, SCVs exhibit so-called phenotypic (or functional) resistance beyond the classical resistance mechanisms, and they can often be retrieved from therapy-refractory courses of infection. In this review, the various clinical infections where SCVs can be expected and isolated, diagnostic procedures for optimized species confirmation, and the pathogenesis of SCVs, including defined underlying molecular mechanisms and the phenotype switch phenomenon, are presented. Moreover, relevant animal models and suggested treatment regimens, as well as the requirements for future research areas, are highlighted. PMID:26960941

Rasch-family models are more valuable than score-based approaches for analysing longitudinal patient-reported outcomes with missing data.

PubMed

de Bock, Élodie; Hardouin, Jean-Benoit; Blanchin, Myriam; Le Neel, Tanguy; Kubis, Gildas; Bonnaud-Antignac, Angélique; Dantan, Étienne; Sébille, Véronique

2016-10-01

The objective was to compare classical test theory and Rasch-family models derived from item response theory for the analysis of longitudinal patient-reported outcomes data with possibly informative intermittent missing items. A simulation study was performed in order to assess and compare the performance of classical test theory and Rasch model in terms of bias, control of the type I error and power of the test of time effect. The type I error was controlled for classical test theory and Rasch model whether data were complete or some items were missing. Both methods were unbiased and displayed similar power with complete data. When items were missing, Rasch model remained unbiased and displayed higher power than classical test theory. Rasch model performed better than the classical test theory approach regarding the analysis of longitudinal patient-reported outcomes with possibly informative intermittent missing items mainly for power. This study highlights the interest of Rasch-based models in clinical research and epidemiology for the analysis of incomplete patient-reported outcomes data. © The Author(s) 2013.

Diagrammar in classical scalar field theory

DOE Office of Scientific and Technical Information (OSTI.GOV)

Cattaruzza, E., E-mail: Enrico.Cattaruzza@gmail.com; Gozzi, E., E-mail: gozzi@ts.infn.it; INFN, Sezione di Trieste

2011-09-15

In this paper we analyze perturbatively a g{phi}{sup 4}classical field theory with and without temperature. In order to do that, we make use of a path-integral approach developed some time ago for classical theories. It turns out that the diagrams appearing at the classical level are many more than at the quantum level due to the presence of extra auxiliary fields in the classical formalism. We shall show that a universal supersymmetry present in the classical path-integral mentioned above is responsible for the cancelation of various diagrams. The same supersymmetry allows the introduction of super-fields and super-diagrams which considerably simplifymore » the calculations and make the classical perturbative calculations almost 'identical' formally to the quantum ones. Using the super-diagrams technique, we develop the classical perturbation theory up to third order. We conclude the paper with a perturbative check of the fluctuation-dissipation theorem. - Highlights: > We provide the Feynman diagrams of perturbation theory for a classical field theory. > We give a super-formalism which links the quantum diagrams to the classical ones. > We check perturbatively the fluctuation-dissipation theorem.« less

A descriptive study of facial acanthosis nigricans and its association with body mass index, waist circumference and insulin resistance using HOMA2 IR.

PubMed

Verma, Shyam; Vasani, Resham; Joshi, Rajiv; Phiske, Meghana; Punjabi, Pritesh; Toprani, Tushar

2016-01-01

The term facial acanthosis nigricans (FAN) lacks definition of precise clinical and histopathological features. We present a descriptive study of patients with FAN to define pigmentary patterns and estimate the prevalence of obesity and insulin resistance in these cases. It is a prospective study that included all patients with classical AN of the neck and/or other areas with facial acanthosis nigricans described as brown-to-black macular pigmentation with blurred ill-defined margins, found on the zygomatic and malar areas. The body mass index (BMI) and waist circumference (WC) of the included patients were used as parameters of obesity. Homeostatic Model of Assessment of Insulin Resistance (HOMA2 IR) was used as a parameter to evaluate insulin resistance. Histopathological features of the 6 skin biopsies that were possible were reviewed. Among the 102 included individuals, the patterns of facial pigmentation seen in addition to the classic pattern involving zygomatic and malar areas were a hyperpigmented band on the forehead in 59.80%, periorbital darkening in 17.64%, perioral darkening in 12.74%, and generalized darkening in 9.8% of cases. 85.29% of the males and 100% of the females were found to be obese. Varying degrees of insulin resistance was noted in 82.34% of the individuals. Six biopsies available for evaluation showed changes such as mild epidermal hyperplasia with prominent basal melanin, however, without the typical papillomatosis seen in AN of the flexures. We document an increased prevalence of obesity and insulin resistance in patients presenting with FAN and its presentations in addition to the classical description. We propose that FAN can be considered a cutaneous marker of insulin resistance and that HOMA2 IR can serve as a parameter of insulin resistance in such cases.

A descriptive study of facial acanthosis nigricans and its association with body mass index, waist circumference and insulin resistance using HOMA2 IR

PubMed Central

Verma, Shyam; Vasani, Resham; Joshi, Rajiv; Phiske, Meghana; Punjabi, Pritesh; Toprani, Tushar

2016-01-01

Introduction: The term facial acanthosis nigricans (FAN) lacks definition of precise clinical and histopathological features. We present a descriptive study of patients with FAN to define pigmentary patterns and estimate the prevalence of obesity and insulin resistance in these cases. Materials and Methods: It is a prospective study that included all patients with classical AN of the neck and/or other areas with facial acanthosis nigricans described as brown-to-black macular pigmentation with blurred ill-defined margins, found on the zygomatic and malar areas. The body mass index (BMI) and waist circumference (WC) of the included patients were used as parameters of obesity. Homeostatic Model of Assessment of Insulin Resistance (HOMA2 IR) was used as a parameter to evaluate insulin resistance. Histopathological features of the 6 skin biopsies that were possible were reviewed. Results: Among the 102 included individuals, the patterns of facial pigmentation seen in addition to the classic pattern involving zygomatic and malar areas were a hyperpigmented band on the forehead in 59.80%, periorbital darkening in 17.64%, perioral darkening in 12.74%, and generalized darkening in 9.8% of cases. 85.29% of the males and 100% of the females were found to be obese. Varying degrees of insulin resistance was noted in 82.34% of the individuals. Six biopsies available for evaluation showed changes such as mild epidermal hyperplasia with prominent basal melanin, however, without the typical papillomatosis seen in AN of the flexures. Conclusion: We document an increased prevalence of obesity and insulin resistance in patients presenting with FAN and its presentations in addition to the classical description. We propose that FAN can be considered a cutaneous marker of insulin resistance and that HOMA2 IR can serve as a parameter of insulin resistance in such cases. PMID:27990384

PROgnosticating COeliac patieNts SUrvivaL: the PROCONSUL score.

PubMed

Biagi, Federico; Schiepatti, Annalisa; Malamut, Georgia; Marchese, Alessandra; Cellier, Christophe; Bakker, Sjoerd F; Mulder, Chris J J; Volta, Umberto; Zingone, Fabiana; Ciacci, Carolina; D'Odorico, Anna; Andrealli, Alida; Astegiano, Marco; Klersy, Catherine; Corazza, Gino R

2014-01-01

It has been shown that mortality rates of coeliac patients correlate with age at diagnosis of coeliac disease, diagnostic delay for coeliac disease, pattern of clinical presentation and HLA typing. Our aim was to create a tool that identifies coeliac patients at higher risk of developing complications. To identify predictors of complications in patients with coeliac disease, we organised an observational multicenter case-control study based on a retrospective collection of clinical data. Clinical data from 116 cases (patients with complicated coeliac disease) and 181 controls (coeliac patients without any complications) were collected from seven European centres. For each case, one or two controls, matched to cases according to the year of assessment, gender and age, were selected. Diagnostic delay, pattern of clinical presentation, HLA typing and age at diagnosis were used as predictors. Differences between cases and controls were detected for diagnostic delay and classical presentation. Conditional logistic models based on these statistically different predictors allowed the development of a score system. Tertiles analysis showed a relationship between score and risk of developing complications. A score that shows the risk of a newly diagnosed coeliac patient developing complications was devised for the first time. This will make it possible to set up the follow-up of coeliac patients with great benefits not only for their health but also for management of economic resources. We think that our results are very encouraging and represent the first attempt to build a prognostic score for coeliac patients.

PROgnosticating COeliac patieNts SUrvivaL: The PROCONSUL Score

PubMed Central

Biagi, Federico; Schiepatti, Annalisa; Malamut, Georgia; Marchese, Alessandra; Cellier, Christophe; Bakker, Sjoerd F.; Mulder, Chris J. J.; Volta, Umberto; Zingone, Fabiana; Ciacci, Carolina; D’Odorico, Anna; Andrealli, Alida; Astegiano, Marco; Klersy, Catherine; Corazza, Gino R.

2014-01-01

Introduction It has been shown that mortality rates of coeliac patients correlate with age at diagnosis of coeliac disease, diagnostic delay for coeliac disease, pattern of clinical presentation and HLA typing. Our aim was to create a tool that identifies coeliac patients at higher risk of developing complications. Methods To identify predictors of complications in patients with coeliac disease, we organised an observational multicenter case-control study based on a retrospective collection of clinical data. Clinical data from 116 cases (patients with complicated coeliac disease) and 181 controls (coeliac patients without any complications) were collected from seven European centres. For each case, one or two controls, matched to cases according to the year of assessment, gender and age, were selected. Diagnostic delay, pattern of clinical presentation, HLA typing and age at diagnosis were used as predictors. Results Differences between cases and controls were detected for diagnostic delay and classical presentation. Conditional logistic models based on these statistically different predictors allowed the development of a score system. Tertiles analysis showed a relationship between score and risk of developing complications. Discussion A score that shows the risk of a newly diagnosed coeliac patient developing complications was devised for the first time. This will make it possible to set up the follow-up of coeliac patients with great benefits not only for their health but also for management of economic resources. Conclusions We think that our results are very encouraging and represent the first attempt to build a prognostic score for coeliac patients. PMID:24392112

Evolutionary Effect on the Embodied Beauty of Landscape Architectures.

PubMed

Zhang, Wei; Tang, Xiaoxiang; He, Xianyou; Chen, Guangyao

2018-01-01

According to the framework of evolutionary aesthetics, a sense of beauty is related to environmental adaptation and plasticity of human beings, which has adaptive value and biological foundations. Prior studies have demonstrated that organisms derive benefits from the landscape. In this study, we investigated whether the benefits of landscape might elicit a stronger sense of beauty and what the nature of this sense of beauty is. In two experiments, when viewing classical landscape and nonlandscape architectures photographs, participants rated the aesthetic scores (Experiment 1) and had a two-alternative forced choice aesthetic judgment by pressing the reaction button located near to (15 cm) or far from (45 cm) the presenting stimuli (Experiment 2). The results showed that reaction of aesthetic ratings for classical landscape architectures was faster than those of classical nonlandscape architectures. Furthermore, only the reaction of beautiful judgment of classical landscape architecture photograph was significantly faster when the reaction button was in the near position to the presenting photograph than those in the position of far away from the presenting photograph. This finding suggests a facilitated effect for the aesthetic perception of classical landscape architectures due to their corresponding components including water and green plants with strong evolutionary implications. Furthermore, this sense of beauty for classical landscape architectures might be the embodied approach to beauty based on the viewpoint of evolutionary aesthetics and embodied cognition.

Critical evaluation of a specific ELISA and two enzymatic assays of pancreatic lipases in human sera.

PubMed

Grandval, Philippe; De Caro, Alain; De Caro, Josiane; Sias, Barbara; Carrière, Frédéric; Verger, Robert; Laugier, René

2004-01-01

Human pancreatic lipases (HPL) include the classical HPL, and two related proteins known as pancreatic lipase-related proteins 1 and 2 (HPLRP1 and 2). The aim of this study was to develop an ELISA for specifically quantifying the classical-HPL level in sera of patients with and without pancreatic disorders. The specific activity of various human (including classical-HPL) and microbial lipases was measured using Lipa Vitros and potentiometric (pH-stat) assays. A double sandwich ELISA was also set up, using an anti-classical-HPL polyclonal antibody and a biotinylated monoclonal antibody (mAb 146-40) specific to the classical-HPL. Sera (n = 53) were collected from patients with and without pancreatic disorders. The lipase concentration was deduced from the measured lipolytic activity and compared with the corresponding classical-HPL concentration, measured with the ELISA. Both the purified HPLRP2 and 3 lipases of microbial origin were found to have a significant and unexpected lipolytic activity under the standard Lipa Vitros assay, whereas the ELISA test developed in the present study was found to be specific for the classical-HPL, due to the absence of cross-reactivity between mAb 146-40, HPLRP1 and HPLRP2. The efficiency of the ELISA was assessed in terms of its reproducibility and accuracy. The lower detection limit of classical-HPL was found to be 0.03 microg/l. A good correlation was found to exist between the lipase concentrations obtained in the ELISA, pH-stat and Lipa Vitros tests, in both the control and pathological groups. This is the first time a specific method of measuring classical-HPL in human serum has been proposed. Using this ELISA, we established with the 53 sera selected in the present study, that the Lipa Vitros assay as well as the pH-stat assay were mostly detecting classical pancreatic lipase. However, it is possible that other lipases such as HPLRP2 or lipases of microbial origin, present in some pathological sera, may well interfere with the Lipa Vitros assay. Copyright 2004 S. Karger AG, Basel and IAP.

Classic Bartter syndrome complicated with profound growth hormone deficiency: a case report

PubMed Central

2013-01-01

Introduction Classic Bartter syndrome is a salt-wasting tubulopathy caused by mutations in the CLCNKB (chloride channel Kb) gene. Although growth hormone deficiency has been suggested as a cause for persistent growth failure in patients with classic Bartter syndrome, in our opinion the diagnoses of growth hormone deficiency has been unconvincing in some reports. Moreover, Gitelman syndrome seems to have been confused with Bartter syndrome in some cases in the literature. In the present work, we describe a new case with CLCNKB gene mutations and review the reported cases of classic Bartter syndrome associated with growth hormone deficiency. Case presentation Our patient was a Japanese boy diagnosed as having classic Bartter syndrome at eight months of age. The diagnosis of Bartter syndrome was confirmed by CLCNKB gene analysis, which revealed compound heterozygous mutations with deletion of exons 1 to 3 (derived from his mother) and ΔL130 (derived from his father). His medical therapy consisted of potassium (K), sodium chloride, spironolactone, and anti-inflammatory agents; this regime was started at eight months of age. Our patient was very short (131.1cm, -4.9 standard deviation) at 14.3 years and showed profoundly impaired growth hormone responses to pharmacological stimulants: 0.15μg/L to insulin-induced hypoglycemia and 0.39μg/L to arginine. His growth response to growth hormone therapy was excellent. Conclusions The present case strengthens the association between classic Bartter syndrome and growth hormone deficiency. We propose that growth hormone status should be considered while treating children with classic Bartter syndrome. PMID:24377430

Classical and Quantum-Mechanical State Reconstruction

ERIC Educational Resources Information Center

Khanna, F. C.; Mello, P. A.; Revzen, M.

2012-01-01

The aim of this paper is to present the subject of state reconstruction in classical and in quantum physics, a subject that deals with the experimentally acquired information that allows the determination of the physical state of a system. Our first purpose is to explain a method for retrieving a classical state in phase space, similar to that…

Classic of the Month. [Columns Compiled from Three Issues of "Notes Plus," September 1983 to January 1984.

ERIC Educational Resources Information Center

Notes Plus, 1984

1984-01-01

Three installments of "Classic of the Month," a regular feature of the National Council of Teachers of English publication, "Notes Plus," are presented in this compilation. Each installment of this feature is intended to provide teaching ideas related to a "classic" novel. The first article offers a variety of…

Media Habits of American Youth: Findings from the 1990 Youth Attitude Tracking Study

DTIC Science & Technology

1993-02-01

NIGHT Q596. What types of radio programming do you usually listen to? 0 = NO MENTION 6 =SPORTS I I = NEWS 7 = TALK 2 = CLASSICAL 8 = CLASSIC /SOFT ROCK 3...by Program Category 3 Table 2.6 displays respondent radio listening habits by program category. " Classic /Soft Rock" generated the highest reach of all...section). _j Table 2.7 presents radio listening habits in terms of estimated listening hours by 3 program type. Rock ( Classic /Soft/Hard/Heavy Metal

Media Habits of American Youth: Findings From the 1990 Youth Attitude Tracking Study

DTIC Science & Technology

1993-02-01

you usually listen to’? U = NO MENTION 6 = SPORTS I = NEWS 7 = TALK I Ŗ = CLASSICAL 8 = CLASSIC /SOFT ROCK I = EASY LISTENING 9 = RAP = POP 10 = HARD...categoric, as des~rihd in the Table 2.7 presents radio listening habits in terms of estimated listening hours by I program type. Rock ( Classic /Soft/Hard...Heavy Metal) accounted for nearly half of all male 3 listening hours. Females listened to " Classic /Soft Rock" a nearly equivalent percentage of the

Changing the Paradigm for the Treatment and Development of New Therapies for FSGS

PubMed Central

Spino, Cathie; Jahnke, Jordan S.; Selewski, David T.; Massengill, Susan; Troost, Jonathan; Gipson, Debbie S.

2016-01-01

Focal segmental glomerulosclerosis (FSGS) is a renal pathology finding that represents a constellation of rare kidney diseases, which manifest as proteinuria, edema nephrotic syndrome, hypertension, and increased risk for kidney failure. Therapeutic options for FSGS are reviewed displaying the expected efficacy from 25 to 69% depending on specific therapy, patient characteristics, cost, and common side effects. This variability in treatment response is likely caused, in part, by the heterogeneity in the etiology and active molecular mechanisms of FSGS. Clinical trials in FSGS have been scant in number and slow to recruit, which may stem, in part, from reliance on classic clinical trial design paradigms. Traditional clinical trial designs based on the “learn and confirm” paradigm may not be appropriate for rare diseases, such as FSGS. Future drug development and testing will require novel approaches to trial designs that have the capacity to enrich study populations and adapt the trial in a planned way to gain efficiencies in trial completion timelines. A clinical trial simulation is provided that compares a classical and more modern design to determine the maximum tolerated dose in FSGS. PMID:27047908

Constructivized Calculus in College Mathematics

ERIC Educational Resources Information Center

Lawrence, Barbara Ann

2012-01-01

The purpose of this study is to present some of the classical concepts, definitions, and theorems of calculus from the constructivists' point of view in the spirit of the philosophies of L.E.J. Brouwer and Errett Bishop. This presentation will compare the classical statements to the constructivized statements. The method focuses on giving…

On the thermal efficiency of power cycles in finite time thermodynamics

NASA Astrophysics Data System (ADS)

Momeni, Farhang; Morad, Mohammad Reza; Mahmoudi, Ashkan

2016-09-01

The Carnot, Diesel, Otto, and Brayton power cycles are reconsidered endoreversibly in finite time thermodynamics (FTT). In particular, the thermal efficiency of these standard power cycles is compared to the well-known results in classical thermodynamics. The present analysis based on FTT modelling shows that a reduction in both the maximum and minimum temperatures of the cycle causes the thermal efficiency to increase. This is antithetical to the existing trend in the classical references. Under the assumption of endoreversibility, the relation between the efficiencies is also changed to {η }{{Carnot}}\\gt {η }{{Brayton}}\\gt {η }{{Diesel}}\\gt {η }{{Otto}}, which is again very different from the corresponding classical results. The present results benefit a better understanding of the important role of irreversibility on heat engines in classical thermodynamics.

Classic hippocampal sclerosis and hippocampal-onset epilepsy produced by a single “cryptic” episode of focal hippocampal excitation in awake rats

PubMed Central

Norwood, Braxton A.; Bumanglag, Argyle V.; Osculati, Francesco; Sbarbati, Andrea; Marzola, Pasquina; Nicolato, Elena; Fabene, Paolo F.; Sloviter, Robert S.

2010-01-01

In refractory temporal lobe epilepsy, seizures often arise from a shrunken hippocampus exhibiting a pattern of selective neuron loss called “classic hippocampal sclerosis.” No single experimental injury has reproduced this specific pathology, suggesting that hippocampal atrophy might be a progressive “endstage” pathology resulting from years of spontaneous seizures. We posed the alternate hypothesis that classic hippocampal sclerosis results from a single excitatory event that has never been successfully modeled experimentally because convulsive status epilepticus, the insult most commonly used to produce epileptogenic brain injury, is too severe and necessarily terminated before the hippocampus receives the needed duration of excitation. We tested this hypothesis by producing prolonged hippocampal excitation in awake rats without causing convulsive status epilepticus. Two daily 30-minute episodes of perforant pathway stimulation in Sprague-Dawley rats increased granule cell paired-pulse inhibition, decreased epileptiform afterdischarge durations during 8 hours of subsequent stimulation, and prevented convulsive status epilepticus. Similarly, one 8-hour episode of reduced-intensity stimulation in Long-Evans rats, which are relatively resistant to developing status epilepticus, produced hippocampal discharges without causing status epilepticus. Both paradigms immediately produced the extensive neuronal injury that defines classic hippocampal sclerosis, without giving any clinical indication during the insult that an injury was being inflicted. Spontaneous hippocampal-onset seizures began 16–25 days post-injury, before hippocampal atrophy developed, as demonstrated by sequential magnetic resonance imaging. These results indicate that classic hippocampal sclerosis is uniquely produced by a single episode of clinically “cryptic” excitation. Epileptogenic insults may often involve prolonged excitation that goes undetected at the time of injury. PMID:20575073

Iatrogenic hypervitaminosis D as an unusual cause of persistent vomiting: a case report

PubMed Central

2014-01-01

Introduction Vitamin D is increasingly recognized to have several beneficial effects. Vitamin D deficiency is widely prevalent. Physicians often treat patients with high doses of vitamin D for various ailments without any monitoring for adverse effects and the prescribed doses often far exceed requirements resulting in toxicity. We present here a classic case of iatrogenic hypervitaminosis D, which presented with persistent vomiting and acute renal failure. Case presentation Here we present a case of a 45-year-old Asian Indian woman who presented to us with persistent vomiting the cause of which was iatrogenic hypervitaminosis D. She was treated with intravenous fluid, diuretics and calcitonin and had clinical improvement. Conclusions We suggest that in any patient presenting with persistent vomiting and hypercalcemia, particularly in the presence of normal parathyroid hormone, a diagnosis of overdose of vitamin D should be suspected. Its treatment not only alleviates symptoms but also prevents ongoing acute kidney injury. PMID:24571630

Delay in the Diagnosis of Adult-Onset Still’s Disease

PubMed Central

Pham, Cindy

2017-01-01

Adult-onset Still’s disease (AOSD) is a systemic autoinflammatory disease characterized by symptoms including spiking fever, arthralgia, myalgia, maculopapular rash, and pharyngitis. The lack of diagnostic biomarker, non-specific clinical presentation, and the rarity of AOSD often result in a significant delay in diagnosis and treatment. While the average time of initial presentation to diagnosis is four months, we present a case of AOSD diagnosis three years after initial onset of classical symptoms. By reporting the case of delayed diagnosis for AOSD, we hope to raise awareness in our medical community about the diagnostic difficulty in AOSD. The present case describes an otherwise healthy male who presented with typical symptoms of AOSD, but the diagnosis of AOSD was missed during his first presentation. In the second flaring episode, the diagnosis of AOSD was established. He had an excellent therapeutic response to anakinra and prednisone during the acute flaring episode. He is currently in complete remission on methotrexate as maintenance therapy. PMID:28690954

Achondroplasia among ancient populations of mesoamerica and South America: Iconographic and Archaeological Evidence.

PubMed

Rodríguez, Carlos A; Isaza, Carolina; Pachajoa, Harry

2012-07-01

Achondroplasia is the most frequent form of short-limb dwarfism. Affected individuals exhibit short stature caused by rhizomelic shortening of the limbs, characteristic facies with frontal bossing and mid-face hypoplasia, genu varum, and trident hand. Although the etiology of this disease was reported in 1994, evidence of this disease in ancient populations has been found in populations of ancient Egypt (2500 BC) and it has been documented in ancient American populations. To analyze the presence of individuals with achondroplasia in the Mayan state society of Mexico and Guatemala, during the Classical (100- 950 AC ) and Post-Classical (950 - 1519 AC ) periods; likewise, in the hierarchical-chieftain society of Tumaco-la Tolita (300 BC - 600 AC ) from the Colombia-Ecuador Pacific coast, and the Moche state society (100 - 600 AC ) from the northern coast of Peru. Iconographic and clinical-morphological studies of some of the most important artistic representations of individuals of short stature in these three cultures. We present the hypothesis that the individuals with short stature were somehow associated with the political and religious power elite.

Achondroplasia among ancient populations of mesoamerica and South America: Iconographic and Archaeological Evidence.

PubMed Central

Isaza, Carolina; Pachajoa, Harry

2012-01-01

Introduction: Achondroplasia is the most frequent form of short-limb dwarfism. Affected individuals exhibit short stature caused by rhizomelic shortening of the limbs, characteristic facies with frontal bossing and mid-face hypoplasia, genu varum, and trident hand. Although the etiology of this disease was reported in 1994, evidence of this disease in ancient populations has been found in populations of ancient Egypt (2500 BC) and it has been documented in ancient American populations. Objective: To analyze the presence of individuals with achondroplasia in the Mayan state society of Mexico and Guatemala, during the Classical (100- 950 AC ) and Post-Classical (950 - 1519 AC ) periods; likewise, in the hierarchical-chieftain society of Tumaco-la Tolita (300 BC - 600 AC ) from the Colombia-Ecuador Pacific coast, and the Moche state society (100 - 600 AC ) from the northern coast of Peru. Methods: Iconographic and clinical-morphological studies of some of the most important artistic representations of individuals of short stature in these three cultures. Conclusion: We present the hypothesis that the individuals with short stature were somehow associated with the political and religious power elite. PMID:24893194

Integrating Genetic and Functional Genomic Data to Elucidate Common Disease Tra

NASA Astrophysics Data System (ADS)

Schadt, Eric

2005-03-01

The reconstruction of genetic networks in mammalian systems is one of the primary goals in biological research, especially as such reconstructions relate to elucidating not only common, polygenic human diseases, but living systems more generally. Here I present a statistical procedure for inferring causal relationships between gene expression traits and more classic clinical traits, including complex disease traits. This procedure has been generalized to the gene network reconstruction problem, where naturally occurring genetic variations in segregating mouse populations are used as a source of perturbations to elucidate tissue-specific gene networks. Differences in the extent of genetic control between genders and among four different tissues are highlighted. I also demonstrate that the networks derived from expression data in segregating mouse populations using the novel network reconstruction algorithm are able to capture causal associations between genes that result in increased predictive power, compared to more classically reconstructed networks derived from the same data. This approach to causal inference in large segregating mouse populations over multiple tissues not only elucidates fundamental aspects of transcriptional control, it also allows for the objective identification of key drivers of common human diseases.

Classical swine fever virus infection modulates serum levels of INF-α, IL-8 and TNF-α in 6-month-old pigs.

PubMed

von Rosen, T; Lohse, L; Nielsen, J; Uttenthal, Å

2013-12-01

Several studies have highlighted the important role of cytokines in disease development of classical swine fever virus (CSFV) infection. In the present study, we examined the kinetics of 7 porcine cytokines in serum from pigs infected with 3 different CSFV strains. Based on the clinical picture in 6-month-old Danish pigs, the strains used for inoculation were classified as being of low (Bergen), low to moderate (Eystrup) and moderate to high (Lithuania) virulence. The cytokines interferon-alpha (INF-α), interleukin-8 (IL-8) and tumor necrosis factor-alpha (TNF-α) showed increased levels after CSFV infection with more or less comparable course in the 3 groups. However, the cytokine level peaked with a 2-3 days delay in pigs infected with the low virulent strain compared to those infected with a moderately or highly virulent strain. These findings may indicate that INF-α, IL-8 and TNF-α are involved in the immune response during CSFV infection with strains of different virulence. Copyright © 2013 Elsevier Ltd. All rights reserved.

Expression and phylogenetic analyses reveal paralogous lineages of putatively classical and non-classical MHC-I genes in three sparrow species (Passer).

PubMed

Drews, Anna; Strandh, Maria; Råberg, Lars; Westerdahl, Helena

2017-06-26

The Major Histocompatibility Complex (MHC) plays a central role in immunity and has been given considerable attention by evolutionary ecologists due to its associations with fitness-related traits. Songbirds have unusually high numbers of MHC class I (MHC-I) genes, but it is not known whether all are expressed and equally important for immune function. Classical MHC-I genes are highly expressed, polymorphic and present peptides to T-cells whereas non-classical MHC-I genes have lower expression, are more monomorphic and do not present peptides to T-cells. To get a better understanding of the highly duplicated MHC genes in songbirds, we studied gene expression in a phylogenetic framework in three species of sparrows (house sparrow, tree sparrow and Spanish sparrow), using high-throughput sequencing. We hypothesize that sparrows could have classical and non-classical genes, as previously indicated though never tested using gene expression. The phylogenetic analyses reveal two distinct types of MHC-I alleles among the three sparrow species, one with high and one with low level of polymorphism, thus resembling classical and non-classical genes, respectively. All individuals had both types of alleles, but there was copy number variation both within and among the sparrow species. However, the number of highly polymorphic alleles that were expressed did not vary between species, suggesting that the structural genomic variation is counterbalanced by conserved gene expression. Overall, 50% of the MHC-I alleles were expressed in sparrows. Expression of the highly polymorphic alleles was very variable, whereas the alleles with low polymorphism had uniformly low expression. Interestingly, within an individual only one or two alleles from the polymorphic genes were highly expressed, indicating that only a single copy of these is highly expressed. Taken together, the phylogenetic reconstruction and the analyses of expression suggest that sparrows have both classical and non-classical MHC-I genes, and that the evolutionary origin of these genes predate the split of the three investigated sparrow species 7 million years ago. Because only the classical MHC-I genes are involved in antigen presentation, the function of different MHC-I genes should be considered in future ecological and evolutionary studies of MHC-I in sparrows and other songbirds.

Clinical and Histologic Mimickers of Celiac Disease.

PubMed

Kamboj, Amrit K; Oxentenko, Amy S

2017-08-17

Celiac disease is an autoimmune disorder of the small bowel, classically associated with diarrhea, abdominal pain, and malabsorption. The diagnosis of celiac disease is made when there are compatible clinical features, supportive serologic markers, representative histology from the small bowel, and response to a gluten-free diet. Histologic findings associated with celiac disease include intraepithelial lymphocytosis, crypt hyperplasia, villous atrophy, and a chronic inflammatory cell infiltrate in the lamina propria. It is important to recognize and diagnose celiac disease, as strict adherence to a gluten-free diet can lead to resolution of clinical and histologic manifestations of the disease. However, many other entities can present with clinical and/or histologic features of celiac disease. In this review article, we highlight key clinical and histologic mimickers of celiac disease. The evaluation of a patient with serologically negative enteropathy necessitates a carefully elicited history and detailed review by a pathologist. Medications can mimic celiac disease and should be considered in all patients with a serologically negative enteropathy. Many mimickers of celiac disease have clues to the underlying diagnosis, and many have a targeted therapy. It is necessary to provide patients with a correct diagnosis rather than subject them to a lifetime of an unnecessary gluten-free diet.

A National Strategy to Develop Pragmatic Clinical Trials Infrastructure

PubMed Central

Guise, Jeanne‐Marie; Dolor, Rowena J.; Meissner, Paul; Tunis, Sean; Krishnan, Jerry A.; Pace, Wilson D.; Saltz, Joel; Hersh, William R.; Michener, Lloyd; Carey, Timothy S.

2014-01-01

Abstract An important challenge in comparative effectiveness research is the lack of infrastructure to support pragmatic clinical trials, which compare interventions in usual practice settings and subjects. These trials present challenges that differ from those of classical efficacy trials, which are conducted under ideal circumstances, in patients selected for their suitability, and with highly controlled protocols. In 2012, we launched a 1‐year learning network to identify high‐priority pragmatic clinical trials and to deploy research infrastructure through the NIH Clinical and Translational Science Awards Consortium that could be used to launch and sustain them. The network and infrastructure were initiated as a learning ground and shared resource for investigators and communities interested in developing pragmatic clinical trials. We followed a three‐stage process of developing the network, prioritizing proposed trials, and implementing learning exercises that culminated in a 1‐day network meeting at the end of the year. The year‐long project resulted in five recommendations related to developing the network, enhancing community engagement, addressing regulatory challenges, advancing information technology, and developing research methods. The recommendations can be implemented within 24 months and are designed to lead toward a sustained national infrastructure for pragmatic trials. PMID:24472114

Parkinson's disease in China.

PubMed

Tian, You-yong; Tang, Cui-ju; Wu, Jie; Zhou, Jun-shan

2011-02-01

Paralysis agitans was first documented in 1817 by James Parkinson, and therefore the syndrome was named Parkinson's disease (PD). In fact, as early as more than 2000 years ago, the clinical manifestations of this disease have been described in Chinese medicine classics, such as the "Huangdi Neijing (Yellow Emperor's Internal Classic)" and "Zhong Zang Jing (Hua's Zhong Zang Classic)." In recent years, especially in the past 30 years after reform and opening-up, PD has drawn a lot of attention by Chinese scholars. Although great progress in the studies of PD has been made in recent years, the gap between China and western countries still exists. In this review, we concentrate on the main progress made in epidemic characteristics, etiology, diagnosis and management of PD in China.

Spectrum of purpura fulminans: report of three classical prototypes and review of management strategies.

PubMed

Talwar, Ankur; Kumar, Sharath; Gopal, M G; Nandini, A S

2012-01-01

Purpura fulminans is a rare syndrome of intravascular thrombosis and hemorrhagic infarction of the skin that is rapidly progressive and is accompanied by vascular collapse and disseminated intravascular coagulation. It usually occurs in children, but this syndrome has also been noted in adults. The three forms of this disease are classified by the triggering mechanisms. We describe three classical cases of purpura fulminans of the three classical prototypes treated at our center and their varied clinical outcomes. We also describe a case of acute infectious purpura fulminans secondary to systemic leptospirosis which to our best knowledge is the first reported case in world literature. The various treatment options for purpura fulminans have also been reviewed.

[Conditioning mechanisms and psychoneuroimmunology].

PubMed

Stockhorst, Ursula; Klosterhalfen, Sibylle

2005-01-01

This chapter deals with the role of conditioning principles in psychoneuroimmunology (PNI). We will first describe the paradigms of classical and instrumental conditioning and classify immune parameters that are subject to conditioning (chapter 1). So far, PNI research mainly uses classical (or Pavlovian) conditioning. We will summarize some of the paradigmatic studies, mainly animal studies (chapter 2) and also describe studies that support the clinical relevance of classical conditioning, i. e., in the pharmacological treatment of autoimmune diseases, transplantation and tumor chemotherapy (chapter 3). A study of our group on anticipatory immunomodulation in pediatric cancer patients is reported. Mechanisms mediating conditioned immunomodulation are summarized (chapter 4). We also describe studies that analyze the impact of instrumental conditioning contingencies on immune functioning (chapter 5). Finally, research perspectives are summarized (chapter 6).

The Blue Bottle Revisited.

ERIC Educational Resources Information Center

Vandaveer, Walter R., IV; Mosher, Mel

1997-01-01

Presents a modification of the classic Blue Bottle demonstration that involves the alkaline glucose reduction of methylene blue. Uses other indicators in the classic Blue Bottle to produce a rainbow of colors. (JRH)

Citation classics in pediatric orthopaedics.

PubMed

Varghese, Ranjit A; Dhawale, Arjun A; Zavaglia, Bogard C; Slobogean, Bronwyn L; Mulpuri, Kishore

2013-09-01

The purpose of this study was to identify the clinical pediatric orthopaedic articles with at least 100 citations published in all orthopaedic journals and to examine their characteristics. All journals dedicated to orthopaedics and its subspecialties were selected from the Journal Citation Report 2001 under the subject category "orthopedics." Articles cited 100 times or more were identified using the database of the Science Citation Index Expanded (SCI-EXPANDED, 1900 to present). The articles were ranked in a comprehensive list. Two authors independently reviewed the full text of each article and applied the inclusion and exclusion criteria to the list of articles. The 2 lists were then compared. All disagreements were resolved by consensus with input from the senior author. The final list of pediatric orthopaedic articles was then compiled. There were a total of 49 journals under the search category "orthopedics." Five journals were excluded as they were non-English journals. The remaining 44 journals were screened for articles with at least 100 citations. A total of 135 clinical pediatric orthopaedic articles cited at least 100 times were included. The most cited article was cited 692 times. The mean number of citations per article was 159 (95% confidence interval, 145-173). All the articles were published between 1949 and 2001, with 1980 and 1989 producing the most citation classics (34). The majority (90) originated from the United States, followed by the United Kingdom (12) and Canada (11). Scoliosis/kyphosis was the most common topic with 26 papers. The second most common subject was hip disorders (24). Therapeutic studies were the most common study type (71). Ninety-seven papers were assigned a 4 for level of evidence. The list of citation classics in pediatric orthopaedic articles is useful for several reasons. It identifies important contributions to the field of pediatric orthopaedics and their originators; it facilitates the understanding and discourse of modern pediatric orthopaedic history and reveals trends in pediatric orthopaedics.

Actinic cheilitis: aesthetic and functional comparative evaluation of vermilionectomy using the classic and W-plasty techniques.

PubMed

Rossoe, Ed Wilson Tsuneo; Tebcherani, Antonio José; Sittart, José Alexandre; Pires, Mario Cezar

2011-01-01

Chronic actinic cheilitis is actinic keratosis located on the vermilion border. Treatment is essential because of the potential for malignant transformation. To evaluate the aesthetic and functional results of vermilionectomy using the classic and W-plasty techniques in actinic cheilitis. In the classic technique, the scar is linear and in the W-plasty one, it is a broken line. 32 patients with clinical and histopathological diagnosis of actinic cheilitis were treated. Out of the 32 patients, 15 underwent the W-plasty technique and 17 underwent the classic one. We evaluated parameters such as scar retraction and functional changes. A statistically significant association between the technique used and scar retraction was found, which was positive when using the classic technique (p = 0.01 with Yates' correction). The odds ratio was calculated at 11.25, i.e., there was a greater chance of retraction in patients undergoing the classic technique. Both techniques revealed no functional changes. We evaluated postoperative complications such as the presence of crusts, dry lips, paresthesia, and suture dehiscence. There was no statistically significant association between complications and the technique used (p = 0.69). We concluded that vermilionectomy using the W-plasty technique shows better cosmetic results and similar complication rates.

Colors of Inner Disk Classical Kuiper Belt Objects

NASA Astrophysics Data System (ADS)

Romanishin, W.; Tegler, S. C.; Consolmagno, G. J.

2010-07-01

We present new optical broadband colors, obtained with the Keck 1 and Vatican Advanced Technology telescopes, for six objects in the inner classical Kuiper Belt. Objects in the inner classical Kuiper Belt are of interest as they may represent the surviving members of the primordial Kuiper Belt that formed interior to the current position of the 3:2 resonance with Neptune, the current position of the plutinos, or, alternatively, they may be objects formed at a different heliocentric distance that were then moved to their present locations. The six new colors, combined with four previously published, show that the ten inner belt objects with known colors form a neutral clump and a reddish clump in B-R color. Nonparametric statistical tests show no significant difference between the B-R color distribution of the inner disk objects compared to the color distributions of Centaurs, plutinos, or scattered disk objects. However, the B-R color distribution of the inner classical Kuiper Belt Objects does differ significantly from the distribution of colors in the cold (low inclination) main classical Kuiper Belt. The cold main classical objects are predominately red, while the inner classical belt objects are a mixture of neutral and red. The color difference may reveal the existence of a gradient in the composition and/or surface processing history in the primordial Kuiper Belt, or indicate that the inner disk objects are not dynamically analogous to the cold main classical belt objects.

COLORS OF INNER DISK CLASSICAL KUIPER BELT OBJECTS

DOE Office of Scientific and Technical Information (OSTI.GOV)

Romanishin, W.; Tegler, S. C.; Consolmagno, G. J., E-mail: wromanishin@ou.ed, E-mail: Stephen.Tegler@nau.ed, E-mail: gjc@specola.v

2010-07-15

We present new optical broadband colors, obtained with the Keck 1 and Vatican Advanced Technology telescopes, for six objects in the inner classical Kuiper Belt. Objects in the inner classical Kuiper Belt are of interest as they may represent the surviving members of the primordial Kuiper Belt that formed interior to the current position of the 3:2 resonance with Neptune, the current position of the plutinos, or, alternatively, they may be objects formed at a different heliocentric distance that were then moved to their present locations. The six new colors, combined with four previously published, show that the ten innermore » belt objects with known colors form a neutral clump and a reddish clump in B-R color. Nonparametric statistical tests show no significant difference between the B-R color distribution of the inner disk objects compared to the color distributions of Centaurs, plutinos, or scattered disk objects. However, the B-R color distribution of the inner classical Kuiper Belt Objects does differ significantly from the distribution of colors in the cold (low inclination) main classical Kuiper Belt. The cold main classical objects are predominately red, while the inner classical belt objects are a mixture of neutral and red. The color difference may reveal the existence of a gradient in the composition and/or surface processing history in the primordial Kuiper Belt, or indicate that the inner disk objects are not dynamically analogous to the cold main classical belt objects.« less

Quasi-Static Analysis of Round LaRC THUNDER Actuators

NASA Technical Reports Server (NTRS)

Campbell, Joel F.

2007-01-01

An analytic approach is developed to predict the shape and displacement with voltage in the quasi-static limit of round LaRC Thunder Actuators. The problem is treated with classical lamination theory and Von Karman non-linear analysis. In the case of classical lamination theory exact analytic solutions are found. It is shown that classical lamination theory is insufficient to describe the physical situation for large actuators but is sufficient for very small actuators. Numerical results are presented for the non-linear analysis and compared with experimental measurements. Snap-through behavior, bifurcation, and stability are presented and discussed.

Quasi-Static Analysis of LaRC THUNDER Actuators

NASA Technical Reports Server (NTRS)

Campbell, Joel F.

2007-01-01

An analytic approach is developed to predict the shape and displacement with voltage in the quasi-static limit of LaRC Thunder Actuators. The problem is treated with classical lamination theory and Von Karman non-linear analysis. In the case of classical lamination theory exact analytic solutions are found. It is shown that classical lamination theory is insufficient to describe the physical situation for large actuators but is sufficient for very small actuators. Numerical results are presented for the non-linear analysis and compared with experimental measurements. Snap-through behavior, bifurcation, and stability are presented and discussed.

Celiac disease: From pathophysiology to treatment

PubMed Central

Parzanese, Ilaria; Qehajaj, Dorina; Patrinicola, Federica; Aralica, Merica; Chiriva-Internati, Maurizio; Stifter, Sanja; Elli, Luca; Grizzi, Fabio

2017-01-01

Celiac disease, also known as “celiac sprue”, is a chronic inflammatory disorder of the small intestine, produced by the ingestion of dietary gluten products in susceptible people. It is a multifactorial disease, including genetic and environmental factors. Environmental trigger is represented by gluten while the genetic predisposition has been identified in the major histocompatibility complex region. Celiac disease is not a rare disorder like previously thought, with a global prevalence around 1%. The reason of its under-recognition is mainly referable to the fact that about half of affected people do not have the classic gastrointestinal symptoms, but they present nonspecific manifestations of nutritional deficiency or have no symptoms at all. Here we review the most recent data concerning epidemiology, pathogenesis, clinical presentation, available diagnostic tests and therapeutic management of celiac disease. PMID:28573065

Unexpected metastatic pheochromocytoma - an unusual presentation.

PubMed

Birrenbach, Tanja; Stanga, Zeno; Cottagnoud, Philippe; Stucki, Armin

2008-01-01

The classic triad of pheochromocytoma consists of episodic headache, sweating, and tachycardia. General clinicians should be aware, however, that this rare entity might present with a wide spectrum of clinical symptoms. We recently observed a noteworthy case of malignant pheochromocytoma where there was a lack of specific symptoms despite an advanced tumor stage. Malignancy is an important cause of mortality. Reliable diagnosis of malignancy depends upon evidence of local invasion, distant metastases, or recurrence. As in our case, new scintigraphic methods, such as 111-In-pentetreotide scintigraphy (Octreoscan), may occasionally reveal 123-I-metaiodobenzylguanidine-negative distant metastases and help to establish an early diagnosis of malignancy. Tumor size, and perhaps even biochemical profile, may be factors increasing the likelihood of a malignant process and may contribute to early identification of patients at risk.

Juvenile Spring Eruption: A Variant of Perniosis?

PubMed

Nabatian, Adam S; Rosman, Ilana S; Sturza, Jeffrey; Jacobson, Mark

2015-09-01

Juvenile spring eruption (JSE) is a unique condition that typically affects the helices of the ears of boys and young men. The classical clinical picture of JSE includes the abrupt onset of lesions after spending time outdoors in the early spring. Because of the papulovesicular nature of the rash and the history of sun exposure, JSE is considered a variant of polymorphous light eruption. In addition to the term "juvenile spring eruption," this entity has also been described under other less common terms such as "perniosis juvenilis vernalis aurium" or "spring perniosis," which emphasizes the onset in the spring and the possible pathogenic role of cold weather. We present a case of likely JSE with histopathologic features more consistent with perniosis than polymorphous light eruption and present a review the literature.

Exclusion of 22q11 deletion in Noonan syndrome with Tetralogy of Fallot

DOE Office of Scientific and Technical Information (OSTI.GOV)

Digilio, M.C.; Marino, B.; Giannotti, A.

We read with interest the report of Robin et al. [1995] published in recent issue of the Journal. The authors described 6 patients with Noonan syndrome (NS) who underwent molecular evaluation for submicroscopic deletion of chromosome band 22q11. None of those patients presented with conotruncal heart defects. Evidence for 22q11 hemizygosity was demonstrated in only one patient. This patient had NS-like manifestations without clinical manifestations of DiGeorge (DG) or velo-cardio-facial (VCF) syndromes. The molecular results obtained in the other 5 patients led the authors to conclude that classical NS is not due to del(22)(q11), even if some patients with del(22)(q11)more » may present NS-like manifestations. 12 refs., 1 tab.« less

[Wernicke-Korsakoff syndrome secondary to cytomegalovirus encephalitis: A case report].

PubMed

Uribe, Luis Guillermo; Pérez, María Alejandra; Lara, Camilo Andrés; Rueda, Natalia; Hernández, Javier Augusto

2017-12-01

Cytomegalovirus (CMV) is one of the opportunistic microorganisms with the highest prevalence in immunocompromised patients. Reactivation has decreased after the introduction of highly active antiretroviral therapy (HAART). Encephalitis has been reported in the coinfection as one of the most frequent presentations.We present the case of a young adult patient with HIV infection and rapid neurological deterioration due to classic clinical symptoms and signs of the Wernicke-Korsakoff syndrome, with no risk factors for thiamine deficiency, with images by nuclear magnetic resonance typical of the syndrome, and identification of cytomegalovirus in cerebrospinal fluid. The specific treatment for CMV managed to control the symptoms with neurological sequelae in progression towards improvement.This is one of the few cases reported in the literature of Wernicke syndrome secondary to cytomegalovirus encephalitis.

Rat Bite Fever and Streptobacillus moniliformis

PubMed Central

Elliott, Sean P.

2007-01-01

Rat bite fever, caused by Streptobacillus moniliformis, is a systemic illness classically characterized by fever, rigors, and polyarthralgias. If left untreated, it carries a mortality rate of 10%. Unfortunately, its nonspecific initial presentation combined with difficulties in culturing its causative organism produces a significant risk of delay or failure in diagnosis. The increasing popularity of rats and other rodents as pets, together with the risk of invasive or fatal disease, demands increased attention to rat bite fever as a potential diagnosis. The clinical and biological features of rat bite fever and Streptobacillus moniliformis are reviewed, providing some distinguishing features to assist the clinician and microbiologist in diagnosis. PMID:17223620

[A case of 63,X/64,XX mosaicism in a subfertile pony mare].

PubMed

Pieńkowska-Schelling, A; Handler, J; Neuhauser, S; Schelling, C

2016-04-01

The present case report describes a 6-year old subfertile pony mare, which became pregnant after the eleventh artificial insemination. The examination of the ovaries and the uterus did not reveal any abnormal clinical findings and the mare showed a regular oestrous cycle. Based on cytogenetic and molecular genetic analyses it became possible to elucidate the observed subfertility. The mosaic karyotype of the mare consisted of 63,X (20%) and 64,XX (80%) cells. A PCR analysis failed to amplify sequences from the equine SRY gene. The observed classic 63,X/64,XX mosaicism is a plausible explanation for the subfertility of the mare.

Histiocytoid Sweet's syndrome presenting with annular erythematous plaques*

PubMed Central

Marcarini, Renata; de Araujo, Raquel Nardelli; Nóbrega, Monisa Martins; Medeiros, Karina Bittencourt; Gripp, Alexandre Carlos; Maceira, Juan Manuel Piñeiro

2016-01-01

Histiocytoid Sweet's Syndrome is a rare inflammatory disease described in 2005 as a variant of the classical Sweet's Syndrome (SS). Histopathologically, the dermal inflammatory infiltrate is composed mainly of mononuclear cells that have a histiocytic appearance and represent immature myeloid cells. We describe a case of Histiocytoid Sweet's Syndrome in an 18-year-old man. Although this patient had clinical manifestations compatible with SS, the cutaneous lesions consisted of erythematous annular plaques, which are not typical for this entity and have not been described in histiocytic form so far. The histiocytic subtype was confirmed by histopathological analysis that showed positivity for myeloperoxidase in multiple cells with histiocytic appearance. PMID:28300927

Senile myoclonic epilepsy in Down syndrome: a video and EEG presentation of two cases.

PubMed

De Simone, Roberto; Daquin, Géraldine; Genton, Pierre

2006-09-01

Myoclonic epilepsy is being increasingly recognized as a late-onset complication in middle-aged or elderly patients with Down syndrome, in association with cognitive decline. We show video and EEG recordings of two patients, both aged 56 years, diagnosed with this condition. At onset, myoclonic epilepsy in elderly DS patients may resemble, in its clinical expression, the classical juvenile myoclonic epilepsy with the characteristic occurrence of jerks on awakening. It is clearly associated with an Alzheimer-type dementia, and may also occur in non-DS patients with Alzheimer's disease: hence the possible denomination of "senile myoclonic epilepsy". [Published with video sequences].

Molecular mechanisms of multidrug resistance in cancer chemotherapy.

PubMed

Nooter, K; Stoter, G

1996-07-01

The occurrence of multidrug resistance (MDR) is one of the main obstacles in the successful chemotherapeutic treatment of cancer. MDR cell lines are resistant to the so-called naturally occurring anti-cancer drugs, such as anthracyclines, Vinca alkaloids and epipodophyllotoxins, but are not cross-resistant to alkylating agents, antimetabolites and cisplatin. So far, three separate forms of MDR have been characterized in more detail: classical MDR, non-Pgp MDR and atypical MDR. Although all three MDR phenotypes have much in common with respect to cross-resistance patterns, the underlying mechanisms certainly differ. Atypical MDR is associated with quantitative and qualitative alterations in topoisomerase II alpha, a nuclear enzyme that actively participates in the lethal action of cytotoxic drugs. Atypical MDR cells do not overexpress P-glycoprotein, and are unaltered in their ability to accumulate drugs. In this review we will focus on classical and non-Pgp MDR. The molecular mechanism of classical and non-Pgp MDR is transcriptional activation of membrane-bound transport proteins. These transport proteins belong to the ATP-binding cassette (ABC) superfamily of transport systems. The classical MDR phenotype is characterized by a reduced ability to accumulate drugs, due to activity of an energy-dependent uni-directional, membrane-bound, drug-efflux pump with broad substrate specificity. The classical MDR drug pump is composed of a transmembrane glycoprotein (P-glyco-protein-Pgp) with a molecular weight of 170 kD, and is, in man, encoded by the so-called multidrug resistance (MDR1) gene. Typically, non-Pgp MDR has no P-gly-coprotein expression, yet has about the same cross-resistance pattern as classical MDR. This non-Pgp MDR phenotype is caused by overexpression of the multidrug resistance-associated protein (MRP) gene, which encodes a 190 kD membrane-bound glycoprotein (MRP). MRP probably works by direct extrusion of cytotoxic drugs from the cell and/or by mediating sequestration of the drugs into intracellular compartments, both leading to a reduction in effective intracellular drug concentrations. For the classical MDR phenotype, evidence is accumulating that it plays a role indeed, in clinical drug resistance, especially in some hematological malignancies (acute myeloid leukemia, multiple myeloma and non-Hodgkin's lymphoma) and solid tumors (soft tissue sarcomas and neuroblastoma). The association of MRP with clinical drug resistance has not been elaborated, yet, and studies on MRP expression in human cancer have just begun. We found that overexpression of MRP, as determined by RNase protection assay as well as by immunohistochemistry, occurs in several human cancers, among which are cancer of the lung, esophagus, breast and ovary, and leukemias. Further studies are indicated to establish whether elevated MRP expression at diagnosis is an unfavorable prognostic factor for clinical outcome of chemotherapy.

Proliferation of Observables and Measurement in Quantum-Classical Hybrids

NASA Astrophysics Data System (ADS)

Elze, Hans-Thomas

2012-01-01

Following a review of quantum-classical hybrid dynamics, we discuss the ensuing proliferation of observables and relate it to measurements of (would-be) quantum mechanical degrees of freedom performed by (would-be) classical ones (if they were separable). Hybrids consist in coupled classical (CL) and quantum mechanical (QM) objects. Numerous consistency requirements for their description have been discussed and are fulfilled here. We summarize a representation of quantum mechanics in terms of classical analytical mechanics which is naturally extended to QM-CL hybrids. This framework allows for superposition, separable, and entangled states originating in the QM sector, admits experimenter's "Free Will", and is local and nonsignaling. Presently, we study the set of hybrid observables, which is larger than the Cartesian product of QM and CL observables of its components; yet it is smaller than a corresponding product of all-classical observables. Thus, quantumness and classicality infect each other.

Early presentation of primary glioblastoma.

PubMed

Faguer, R; Tanguy, J-Y; Rousseau, A; Clavreul, A; Menei, P

2014-08-01

Clinical and neuroimaging findings of glioblastomas (GBM) at an early stage have rarely been described and those tumors are most probably under-diagnosed. Furthermore, their genetic alterations, to our knowledge, have never been previously reported. We report the clinical as well as neuroimaging findings of four early cases of patients with GBM. In our series, early stage GBM occurred at a mean age of 57 years. All patients had seizures as their first symptom. In all early stages, MRI showed a hyperintense signal on T2-weighted sequences and an enhancement on GdE-T1WI sequences. A hyperintense signal on diffusion sequences with a low ADC value was also found. These early observed occurrences of GBM developed rapidly and presented the MRI characteristics of classic GBM within a few weeks. The GBM size was multiplied by 32 in one month. Immunohistochemical analysis indicated the de novo nature of these tumors, i.e. absence of mutant IDH1 R132H protein expression, which is a diagnostic marker of low-grade diffuse glioma and secondary GBM. A better knowledge of early GBM presentation would allow a more suitable management of the patients and may improve their prognosis. Copyright © 2014 Elsevier Masson SAS. All rights reserved.

Advances in the Diagnosis and Treatment of PCOS.

PubMed

Carmina, Enrico; Guastella, Ettore; Longo, Rosa Alba

2016-01-01

While the Rotterdam criteria look simple and easy to follow, in clinical practice diagnosis of PCOS may be problematic because of the use of inaccurate commercial androgen assays. Progresses in ovarian ultrasound and in AMH measurement have modified the way to make the diagnosis of PCOS and an update of Rotterdam criteria may be necessary. In classic severe form of PCOS, ovarian follicle count is a very reliable diagnostic criterion but AMH measurement may also present high diagnostic specificity and sensitivity. This finding is particularly important when no clinical signs of androgen excess are present and only commercial assays for androgen measurement are available. At the contrary, in mild PCOS phenotypes, sensitivity of AMH measurement is too low whileFNPO count maintains a high diagnostic sensitivity. However, at least in ovulatory hyperandrogenic PCOS phenotype, increased AMH values in association with enlarged ovarian size permit the diagnosis of ovulatory PCOS in 85% of these patients. Treatment of PCOS women has to be directed to get fertility or in patients not seeking fertility to solve or attenuate the psychological implications of androgen excess and of irregular menses and the risk of endometrial hyperplasia. The therapeutic protocols that are used in our department are presented.

Trends in the incidence, clinical presentation, and management of traumatic rupture of the corpus cavernosum.

PubMed

Ekwere, Paul D; Al Rashid, Mohammed

2004-02-01

Recent observations in our hospital of apparent increase in frequency prompted a revisit to the subject of fracture of penis. In a retrospective review, patients' age, marital status, and causal activities; clinical presentations; methods of management; operative findings; and postoperative complications were analyzed for changing trends. Literature was also reviewed briefly. Nineteen episodes of penile fracture in 18 patients exceed the previous incidence by more than 58%. Most were due to noncoital causes (73.7%); more unmarried people (31.6%) were affected. Most presented with the classic symptoms/signs, and tears were repaired by degloving through subcoronal incisions; one was treated conservatively. The higher morbidity observed was attributed to higher rates of hematoma and wound infections, probably enhanced by poor hemostasis and early persistent, postoperative erections. Painful erections, painful coitus, and deformities, however subsided within weeks, with no long-term ill effects. The incidence of penile fracture, postoperative hematoma, and infections has increased; about 32% of the patients were unmarried. The prominence of masturbation as a cause of penile fracture and increased ratio of noncoital to coital causes are highlighted. Degloving through subcoronal incisions remains an acceptable method of approach for repair in line with cultural practices in Saudi Arabia.

Tropheryma whipplei tricuspid endocarditis: a case report and review of the literature

PubMed Central

2010-01-01

Introduction The main clinical manifestations of Whipple's disease are weight loss, arthropathy, diarrhea and abdominal pain. Cardiac involvement is frequently described. However, endocarditis is rare and is not usually the initial presentation of the disease. To the best of our knowledge, this is the first reported case of a patient with Tropheryma whipplei tricuspid endocarditis without any other valve involved and not presenting signs of arthralgia and abdominal involvement. Case presentation We report a case of a 50-year-old Caucasian man with tricuspid endocarditis caused by Tropheryma whipplei, showing signs of severe shock and an absence of other more classic clinical signs of Whipple's disease, such as arthralgia, abdominal pain and diarrhea. Tropheryma whipplei was documented by polymerase chain reaction of the blood and pleural fluid. The infection was treated with a combined treatment of doxycycline, hydroxychloroquine and sulfamethoxazole-trimethoprim for one year. Conclusion Tropheryma whipplei infectious endocarditis should always be considered when facing a blood-culture negative endocarditis particularly in right-sided valves. Although not standardized yet, treatment of Tropheryma whipplei endocarditis should probably include a bactericidal antibiotic (such as doxycycline) and should be given over a prolonged period of time (a minimum of one year). PMID:20684779

Scabies masquerading as bullous pemphigoid: scabies surrepticius

PubMed Central

Cohen, Philip R

2017-01-01

Scabies, a parasitic infestation caused by the mite Sarcoptes scabiei, is diagnosed by observing either the mite, its ova, or its excrement. The mite tracts, known as burrows and a characteristic presentation of the pruritic condition, are typically found on the web spaces between the fingers. Other cutaneous lesions include excoriated papules, pustules, and vesicles. However, atypical clinical variants of scabies, such as bullous, crusted, hidden, incognito, nodular, and scalp forms of the parasitic infestation, mimic the morphologic features of other non-parasitic dermatoses. A 76-year-old man presented with pruritic blisters and urticarial plaques that demonstrated not only pathology changes, but direct immunofluorescence also showed findings of bullous pemphigoid. His condition improved, but did not resolve, with topical corticosteroid cream for the management of the primary autoimmune blistering disorder. When other family members subsequently developed scabies, the correct diagnosis for his condition, bullous scabies, was established by demonstrating mites, ova, and scybala on a mineral oil preparation from a skin scraping of a newly appearing burrow. Bullous scabies can masquerade not only clinically, but also both pathologically and immunologically as bullous pemphigoid. Scabies serrupticius is introduced as a unifying term to designate all of the non-classic presentations of S. scabiei mite infestation. PMID:28883737

Characterization of Classical and Nonclassical Fabry Disease: A Multicenter Study

PubMed Central

Wanner, Christoph; Hughes, Derralynn; Mehta, Atul; Oder, Daniel; Watkinson, Oliver T.; Elliott, Perry M.; Linthorst, Gabor E.; Wijburg, Frits A.; Biegstraaten, Marieke; Hollak, Carla E.

2017-01-01

Fabry disease leads to renal, cardiac, and cerebrovascular manifestations. Phenotypic differences between classically and nonclassically affected patients are evident, but there are few data on the natural course of classical and nonclassical disease in men and women. To describe the natural course of Fabry disease stratified by sex and phenotype, we retrospectively assessed event-free survival from birth to the first clinical visit (before enzyme replacement therapy) in 499 adult patients (mean age 43 years old; 41% men; 57% with the classical phenotype) from three international centers of excellence. We classified patients by phenotype on the basis of characteristic symptoms and enzyme activity. Men and women with classical Fabry disease had higher event rate than did those with nonclassical disease (hazard ratio for men, 5.63, 95% confidence interval, 3.17 to 10.00; P<0.001; hazard ratio for women, 2.88, 95% confidence interval, 1.54 to 5.40; P<0.001). Furthermore, men with classical Fabry disease had lower eGFR, higher left ventricular mass, and higher plasma globotriaosylsphingosine concentrations than men with nonclassical Fabry disease or women with either phenotype (P<0.001). In conclusion, before treatment with enzyme replacement therapy, men with classical Fabry disease had a history of more events than men with nonclassical disease or women with either phenotype; women with classical Fabry disease were more likely to develop complications than women with nonclassical disease. These data may support the development of new guidelines for the monitoring and treatment of Fabry disease and studies on the effects of intervention in subgroups of patients. PMID:27979989