Uncommon and Emissive {[Au2(C3H6NS2)2][Au(C3H6NS2)2]2(PF6)2} Mixed Au+ and Au3+ Pseudotetranuclear Crystalline Compound: Synthesis, Structural Characterization, and Optical Properties.

PubMed

Langaro, Ana P; Souza, Ana K R; Morassuti, Claudio Y; Lima, Sandro M; Casagrande, Gleison A; Deflon, Victor M; Nunes, Luiz A O; Da Cunha Andrade, Luis H

2016-11-23

An uncommon emissive pseudotetranuclear compound, {[Au 2 (C 3 H 6 NS 2 ) 2 ][Au(C 3 H 6 NS 2 ) 2 ] 2 (PF 6 ) 2 }, was synthesized and characterized in terms of its structure and optical properties. The synthesis produced a crystalline compound composed of four gold atoms with two different oxidation states (Au + and Au 3+ ) in the same crystalline structure. The title complex belonged to a triclinic crystalline system involving the centrosymmetric P1̅ space group. X-ray diffractometry and vibrational spectroscopy (infrared, Raman, and SERS) were used for structural characterization of the new crystal. The vibrational spectroscopy techniques supported the X-ray diffraction results and confirmed the presence of bonds including Au-Au and Au-S. Optical characterization performed using UV-vis spectroscopy showed that under ultraviolet excitation, the emissive crystalline complex presented characteristic broad luminescent bands centered at 420 and 670 nm.

Celiac Plexus Block as a Predictor of Surgical Outcome for Sympathetically Mediated Abdominal Pain in a Case of Suspected Median Arcuate Ligament Syndrome: A Case Report.

PubMed

Sun, Zhuo; Fritz, David A; Turner, Suzanne; Hardy, David M; Meiler, Steffen E; Martin, Dan C; Dua, Anterpreet

2018-02-14

Median arcuate ligament syndrome (MALS), also known as celiac artery compression syndrome, is an uncommon condition classically characterized by chronic abdominal pain, weight loss, and abdominal bruit. Chronic mesenteric ischemia caused by intermittent compression of the celiac artery by the MAL provokes upper abdominal pain that is sympathetically mediated via the celiac plexus. Because it is a diagnosis of exclusion, diagnosis of MALS in the clinical setting is typically challenging. We present an atypical case which highlights the utility of celiac plexus block as both an assistant diagnostic tool and a predictor of surgical outcomes for suspected MALS.

Case report: Anesthesia management for emergency cesarean section in a patient with dwarfism.

PubMed

Li, Xiaoxi; Duan, Hongjun; Zuo, Mingzhang

2015-04-28

Dwarfism is characterized by short stature. Pregnancy in women with dwarfism is uncommon and cesarean section is generally indicated for delivery. Patients with dwarfism are high-risk population for both general and regional anesthesia, let alone in an emergency surgery. In this case report we present a 27-year-old Chinese puerpera with dwarfism who underwent emergency cesarean section under combined spinal and epidural anesthesia. It is an original case report, which provides instructive significance for anesthesia management especially combined spinal and epidural anesthesia in this rare condition. There was only one former article that reported a puerpera who underwent combined spinal and epidural anesthesia for a selective cesarean section.

Cytotoxicity mechanisms in melanoma cells and UPLC-QTOF/MS2 chemical characterization of two Brazilian stingless bee propolis: Uncommon presence of piperidinic alkaloids.

PubMed

Cisilotto, Júlia; Sandjo, Louis P; Faqueti, Larissa G; Fernandes, Heloísa; Joppi, Débora; Biavatti, Maique W; Creczynski-Pasa, Tânia Beatriz

2018-02-05

The present study characterized propolis extracts produced by Scaptotrigona bipunctata (Tubuna) and Melipona quadrifasciata (Mandaçaia) by LC-MS/MS; their cytotoxicity as well as the mechanism of action in a melanoma cellular model were also assessed. The chemical characterization performed by UPLC-ESI-QTOF/MS 2 analysis revealed uncommon presence of piperidinic alkaloids in Tubuna's propolis extract together with C-glycopyranoside flavonoids. Mandaçaia's propolis collected in the same area rather presented terpenoids and flavonoids. Regarding the mechanism of cytotoxicity, propolis extracts increased the accumulation of reactive oxygen species (ROS), reduced the potential of mitochondrial membrane, induced a decrease in the proteins Bcl-2 and AKT-3 levels, and decreased melanoma cells' migration and invasion. Both propolis extracts induced apoptosis while only Mandaçaia's propolis extract induced cell cycle arrest in G2/M. Copyright © 2017 Elsevier B.V. All rights reserved.

Co-occurrence of chancroid and gonorrhea.

PubMed

Nawaf, Al-Mutairi; Joshi, Arun; Tayeh, Mohammad

2006-01-01

Gonorrhea and chancroid are common sexually transmitted infections in many parts of the world. Still, co-occurrence of these two conditions is uncommonly reported. We present here a patient who presented with painful genital ulcers and urethral discharge simultaneously acquired from a single exposure, which turned out to be chancroid and gonorrhea, respectively. Both conditions responded well to a single intramuscular dose of ceftriaxone 250 mg. This report describes the uncommon occurrence of gonorrhea and chancroid in a patient. Clinical features, relevant investigations, treatment options of these two sexually transmitted infections, and possible implications in view of the human immunodeficiency virus (HIV) pandemic are briefly discussed.

ANAEROBIC BIOTRANSFORMATION OF CONTAMINANTS IN THE SUBSURFACE

EPA Science Inventory

Anaerobic conditions predominate in contaminated aquifers and are not uncommon in noncontaminated areas. Comparatively little is known about degradative processes and nutrient cycling under anaerobic conditions. However, it is apparent these processes are fundamentally differen...

Spinocerebellar Ataxia 27: A Review and Characterization of an Evolving Phenotype

PubMed Central

Groth, Christopher L.; Berman, Brian D.

2018-01-01

Background Spinocerebellar ataxia (SCA) is an uncommon form of progressive cerebellar ataxia with multiple genetic causes and marked variability in phenotypic expression even across patients with identical genetic abnormalities. SCA27 is a recently identified SCA caused by mutations in the Fibroblast Growth Factor 14 gene, with a phenotypic expression that is only beginning to be fully appreciated. We report here a case of a 70-year-old male who presented with slowly worsening tremor and gait instability that began in his early adulthood along with additional features of parkinsonism on examination. Work-up revealed a novel pathogenic mutation in the Fibroblast Growth Factor 14 gene, and symptoms improved with amantadine and levodopa. We also provide a review of the literature in order to better characterize the phenotypic expression of this uncommon condition. Methods Case report and review of the literature. Results Review of the literature revealed a total of 32 previously reported clinical cases of SCA27. Including our case, we found that early-onset tremor (12.1 ± 10.5 years) was present in 95.8%, while gait ataxia tended to present later in life (23.7 ± 16.7 years) and was accompanied by limb ataxia, dysarthria, and nystagmus. Other features of SCA27 that may distinguish it from other SCAs include the potential for episodic ataxia, accompanying psychiatric symptoms, and cognitive impairment. Discussion Testing for SCA27 should be considered in individuals with ataxia who report tremor as an initial or early symptom, as well as those with additional findings of episodic ataxia, neuropsychiatric symptoms, or parkinsonism. PMID:29416937

Reversible cerebral vasoconstriction syndrome: a comprehensive update.

PubMed

Mehdi, Ali; Hajj-Ali, Rula A

2014-09-01

Reversible cerebral vasoconstriction syndrome (RCVS) is a clinico-radiological syndrome characterized by recurrent thunderclap headache, with or without neurologic symptoms, and reversible vasoconstriction of cerebral arteries. RCVS affects patients in various racial and ethnic groups and in all age groups, although most commonly in the fourth decade of life. Many conditions and exposures have been linked to RCVS, including vasoactive drugs and the peripartum period. Disturbance of the cerebral vascular tone is thought to contribute to the disease's pathophysiology. RCVS generally follows a monophasic course. Associated strokes and cerebral hemorrhages are not uncommon. In this review we will attempt to provide a comprehensive overview of RCVS, with emphasis on the controversies in the field and the newest findings in the reported literature.

Successful management of angiolymphoid hyperplasia with eosinophilia in a split-face trial of topical tacrolimus and timolol solution.

PubMed

Chacon, Anna; Mercer, Jessica

2016-08-01

Angiolymphoid hyperplasia with eosinophilia (ALHE) is an uncommon, benign condition characterized by multiple benign angiomatous nodules or plaques. Cutaneous lesions can be painful, pruritic, pulsatile, or potentially disfiguring resulting in significant morbidity. ALHE is a pathologic diagnosis featuring proliferations of capillary-sized vessels with epithelioid endothelial cells surrounded by larger, thick-walled vessels and accompanying eosinophils and lymphocytes. Surgery is generally required, however the skin lesions often recur after excision. ALHE is notoriously difficult to treat and many physicians would prefer a non-invasive treatment of choice. We report a case of ALHE that was successfully treated with the novel use of topical tacrolimus in a split-face trial with topical timolol solution.

Genetics Home Reference: hereditary cerebral amyloid angiopathy

MedlinePlus

... uncommon in individuals with the Iowa type. This type is characterized by memory loss, problems with vocabulary and the production of speech, personality changes, and involuntary muscle twitches (myoclonus). Two types of hereditary cerebral amyloid angiopathy , known as familial ...

A common presentation to an uncommon disease. Penile Mondor's disease: a case report and literature review.

PubMed

Walsh, John C; Poimboeuf, Sabré; Garvin, Daniel S

2014-01-01

Penile Mondor's disease, or superficial thrombophlebitis of the dorsal vein of the penis, is a relatively uncommon but potentially anxiety-inducing self-limiting condition that should be easily recognizable by any primary care practitioner. It typically presents with a cord-like mass and pain to the dorsal penis and has a myriad of causes, including trauma, excessive sexual activity, excessive exercise, or malignancy. Although Penile Mondor's disease is typically a clinical diagnosis, Doppler ultrasound is the initial imaging modality of choice if there is question or doubt about the diagnosis. Accurate diagnosis and reassurance about the condition's benign and self-limiting nature assuages most patients' fears. Treatment is primarily symptomatic but may vary depending on possible underlying disease processes.

Wolf in Sheep's Clothing: Primary Lung Cancer Mimicking Benign Entities.

PubMed

Snoeckx, Annemie; Dendooven, Amélie; Carp, Laurens; Desbuquoit, Damien; Spinhoven, Maarten J; Lauwers, Patrick; Van Schil, Paul E; van Meerbeeck, Jan P; Parizel, Paul M

2017-10-01

Lung cancer is the most common cancer worldwide. On imaging, it typically presents as mass or nodule. Recognition of these typical cases is often straightforward, whereas diagnosis of uncommon manifestations of primary lung cancer is far more challenging. Lung cancer can mimic a variety of benign entities, including pneumonia, lung abscess, postinfectious scarring, atelectasis, a mediastinal mass, emphysema and granulomatous diseases. Correlation with previous history, clinical and biochemical parameters is necessary in the assessment of these cases, but often aspecific and inconclusive. Whereas 18 F-fluorodeoxyglucose ( 18 F-FDG) Positron Emission Tomography is the cornerstone in staging of lung cancer, its role in diagnosis of these uncommon manifestations is less straightforward since benign entities can present with increased 18 F-FDG-uptake and, on the other hand, a number of these uncommon lung cancer manifestations do not exhibit increased uptake. Chest Computed Tomography (CT) is the imaging modality of choice for both lesion detection and characterization. In this pictorial review we present the wide imaging spectrum of CT-findings as well as radiologic-pathologic correlation of these uncommon lung cancer manifestations. Knowledge of the many faces of lung cancer is crucial for early diagnosis and subsequent treatment. A multidisciplinary approach in these cases is mandatory. Copyright © 2017 Elsevier B.V. All rights reserved.

Pyrazinamide induced thrombocytopenia

PubMed Central

Kant, Surya; Verma, Sanjay Kumar; Gupta, Vaibhav; Anand, Sunish C.; Prasad, Rajendra

2010-01-01

Thrombocytopenia is an uncommon but potentially life-threatening complication of certain antitubercular drugs and is characterized by rapid destruction of platelets whenever offending drug is taken by a susceptible person. We report a case of pyrazinamide-induced thrombocytopenia in a patient receiving anti tubercular drugs. PMID:20711377

Von recklinghausen neurofibromatosis-pachydermatocele causing lower limb gigantism: a case report.

PubMed

Rekha, Arcot; Gopalan, T R

2006-03-01

Gigantism of the lower limb can occur because of plexiform neurofibromas. This condition is seen with café au lait patches and multiple neurofibromatosis in this case of von Recklinghausen neurofibromatosis. We report our patient and review literature of this uncommon condition.

Multifocal Tubercular Dactylitis: A Rare Presentation of Skeletal Tuberculosis in an Adult.

PubMed

Thatoi, Pravat; Parida, Manoj; Barik, Rakesh; Das, Bidyut

2017-06-01

Tubercular dactylitis is an uncommon form of osteo-articular tuberculosis seen in children. Multifocal involvement, simultaneously involving hands and feet is extremely uncommon. Here we report an adult patient with tubercular dactylitis involving multiple digits of both hands and second digit of right foot in absence of any risk factors like immunodeficiency or any debilitating condition. The patient was successfully treated with anti-tubercular drugs for six months. Mycobacterium tuberculosis infection of bones and joints can present in an unusual way but early diagnosis and treatment caries a good prognosis.

Carotenemia associated with green bean ingestion.

PubMed

Sale, Tanya A; Stratman, Erik

2004-01-01

Carotenemia is a condition characterized by yellow discoloration of the skin and elevated blood carotene levels. Excessive and prolonged ingestion of carotene-rich, yellow- or orange-colored foods such as carrots and winter squash is the most common cause, but more rarely it may be associated with consumption of other foods as well as with hypothyroidism, diabetes mellitus, anorexia nervosa, liver disease, or kidney disease. Though not uncommon in children, there are few reports in the pediatric literature since its early descriptions in the late 1800s and early 1900s. Awareness of carotenemia can help the provider resolve confusion with jaundice and avoid unnecessary worry and costly tests. Herein we describe carotenemia in an 8-month-old Caucasian girl secondary to increased consumption of commercial infant food green beans.

The Influence of Pseudomonas fluorescens on Corrosion Products of Archaeological Tin-Bronze Analogues

NASA Astrophysics Data System (ADS)

Ghiara, G.; Grande, C.; Ferrando, S.; Piccardo, P.

2018-01-01

In this study, tin-bronze analogues of archaeological objects were investigated in the presence of an aerobic Pseudomonas fluorescens strain in a solution, containing chlorides, sulfates, carbonates and nitrates according to a previous archaeological characterization. Classical fixation protocols were employed in order to verify the attachment capacity of such bacteria. In addition, classical metallurgical analytical techniques were used to detect the effect of bacteria on the formation of uncommon corrosion products in such an environment. Results indicate quite a good attachment capacity of the bacteria to the metallic surface and the formation of the uncommon corrosion products sulfates and sulfides is probably connected to the bacterial metabolism.

Cerebrospinal Fluid HIV Escape from Antiretroviral Therapy.

PubMed

Ferretti, Francesca; Gisslen, Magnus; Cinque, Paola; Price, Richard W

2015-06-01

CNS infection is a nearly constant facet of systemic CNS infection and is generally well controlled by suppressive systemic antiretroviral therapy (ART). However, there are instances when HIV can be detected in the cerebrospinal fluid (CSF) despite suppression of plasma viruses below the clinical limits of measurement. We review three types of CSF viral escape: asymptomatic, neuro-symptomatic, and secondary. The first, asymptomatic CSF escape, is seemingly benign and characterized by lack of discernable neurological deterioration or subsequent CNS disease progression. Neuro-symptomatic CSF escape is an uncommon, but important, entity characterized by new or progressive CNS disease that is critical to recognize clinically because of its management implications. Finally, secondary CSF escape, which may be even more uncommon, is defined by an increase of CSF HIV replication in association with a concomitant non-HIV infection, as a consequence of the local inflammatory response. Understanding these CSF escape settings not only is important for clinical diagnosis and management but also may provide insight into the CNS HIV reservoir.

Australian Paediatric Surveillance Unit : progress report.

PubMed

Morris, A; Ridley, G F; Elliott, E J

2002-02-01

The Australian Paediatric Surveillance Unit (APSU), through active surveillance, collects information on the epidemiology of rare or uncommon childhood conditions. This research resource allows paediatricians to collaborate at State, national and international levels. The APSU sends a monthly report card to all (currently 971) paediatricians in Australia, who in turn indicate whether or not they have seen a patient in the last month with any of the conditions listed (98% response rate in 1999). Study investigators, notified by the APSU of positive case reports, obtain demographic and clinical data on the patient from the reporting doctor by postal questionnaire (90% response rate in 1999). Since 1993, the APSU has monitored 27 conditions, including conditions that are vaccine-preventable, otherwise infectious, genetic, congenital and non-communicable. Information collected is disseminated to paediatricians and other health professionals via an annual report, newsletters and publications and is made available to the International Network of Paediatric Surveillance Units. Information provided by the APSU has raised awareness among paediatricians of rare and uncommon childhood conditions, and has been used by health authorities for planning of prevention and intervention strategies and allocation of health resources.

Percutaneous Management of Systemic Fungal Infection Presenting As Bilateral Renal Fungal Ball

PubMed Central

Shukla, Abhishek; Shrivastava, Nitin; Singh, Chirom Amit

2016-01-01

Abstract Background: Zygomycoses are uncommon, frequently fatal diseases caused by fungi of the class Zygomycetes. The majority of human cases are caused by Mucorales (genus—rhizopus, mucor, and absidia) fungi. Renal involvement is uncommon and urine microscopy, pottasium hydroxide mount, and fungal cultures are frequently negative. Case Presentation: A twenty-one-year-old young unmarried lady presented to our emergency department with bilateral flank pain, fever, nausea, and decreased urine output of one-month duration. She was found to have azotemia with sepsis with bilateral hydronephrosis with a left renal pelvic obstructing stone. Even after nephrostomy drainage and broad spectrum antibiotics, her condition worsened. She developed disseminated fungal infection, and timely systemic antifungal followed by bilateral nephroscopic clearance saved the patient. Conclusion: Although renal fungal infections are uncommon, a high index of suspicion and early antifungal and surgical intervention can give favorable outcomes. PMID:27704055

Percutaneous Management of Systemic Fungal Infection Presenting As Bilateral Renal Fungal Ball.

PubMed

Shukla, Abhishek; Shrivastava, Nitin; Singh, Chirom Amit; Nayak, Brusabhanu

2016-01-01

Background: Zygomycoses are uncommon, frequently fatal diseases caused by fungi of the class Zygomycetes. The majority of human cases are caused by Mucorales (genus-rhizopus, mucor, and absidia) fungi. Renal involvement is uncommon and urine microscopy, pottasium hydroxide mount, and fungal cultures are frequently negative. Case Presentation: A twenty-one-year-old young unmarried lady presented to our emergency department with bilateral flank pain, fever, nausea, and decreased urine output of one-month duration. She was found to have azotemia with sepsis with bilateral hydronephrosis with a left renal pelvic obstructing stone. Even after nephrostomy drainage and broad spectrum antibiotics, her condition worsened. She developed disseminated fungal infection, and timely systemic antifungal followed by bilateral nephroscopic clearance saved the patient. Conclusion: Although renal fungal infections are uncommon, a high index of suspicion and early antifungal and surgical intervention can give favorable outcomes.

Uncommon Caring: Primary Males and Implicit Judgments.

ERIC Educational Resources Information Center

King, James R.

The caring and nurturing of children, which characterize primary education culture, have tended to shape a public perception of primary teaching as "women's work." Several social factors influence men's underrepresentation in the profession of primary education, such as parents not wanting their children exposed to "soft"…

An unusual pathogen in ambulatory care: two cases of Scedosporium soft tissue infections presenting as "unresponsive cellulitis".

PubMed

Misselbrook, Gary Peter; Lillie, Patrick; Thomas, Claire P

2016-01-01

Soft tissue infections with Scedosporium spp. are an uncommon but serious and emerging cause of infection in immunocompromised patients. Acute Medical Units (AMUs) in the UK are increasingly managing patients with cellulitis in an outpatient setting, therefore acute physicians should be aware of some of the more uncommon causes of soft tissue infection, particularly in patients not responding to initial antibiotic therapy. We present two cases of Scedosporium presenting to the AMU as cellulitis not responding to initial antibiotic therapy and outline the assessment and management of this important condition.

[Sciatic nerve intraneural perineurioma].

PubMed

Bonhomme, Benjamin; Poussange, Nicolas; Le Collen, Philippe; Fabre, Thierry; Vital, Anne; Lepreux, Sébastien

2015-12-01

Intraneural perineurioma is a benign tumor developed from the perineurium and responsible for localized nerve hypertrophy. This uncommon tumor is characterized by a proliferation of perineural cells with a "pseudo-onion bulb" pattern. We report a sciatic nerve intraneural perineurioma in a 39-year-old patient. Copyright © 2015 Elsevier Masson SAS. All rights reserved.

Pneumomediastinum

MedlinePlus

Pneumomediastinum is uncommon. The condition can be caused by injury or disease. Most often, it occurs when air leaks from any part of the lung or airways into the mediastinum. Increased pressure in the lungs or airways may be caused ...

A unique TBX5 microdeletion with microinsertion detected in patient with Holt-Oram syndrome.

PubMed

Morine, Mikio; Kohmoto, Tomohiro; Masuda, Kiyoshi; Inagaki, Hidehito; Watanabe, Miki; Naruto, Takuya; Kurahashi, Hiroki; Maeda, Kazuhisa; Imoto, Issei

2015-12-01

Holt-Oram syndrome (HOS) is an autosomal dominant condition characterized by upper limb and congenital heart defects and caused by numerous germline mutations of TBX5 producing preterminal stop codons. Here, we report on a novel and unusual heterozygous TBX5 microdeletion with microinsertion (microindel) mutation (c.627delinsGTGACTCAGGAAACGCTTTCCTGA), which is predicted to synthesize a truncated TBX5 protein, detected in a sporadic patient with clinical features of HOS prenatally diagnosed by ultrasonography. This uncommon and relatively large inserted sequence contains sequences derived from nearby but not adjacent templates on both sense and antisense strands, suggesting two possible models, which require no repeat sequences, causing this complex microindel through the bypass of large DNA adducts via an error-prone DNA polymerase-mediated translesion synthesis. © 2015 Wiley Periodicals, Inc.

Protein characterization of protein bodies from cotyledons of Mucuna pruriens (L.) DC.

PubMed

Bellani, Lorenza; Giglioni, Stefania; Muccifora, Simonetta

2013-03-01

Seeds of Mucuna pruriens (L.) DC. (Fabaceae) were analyzed for protein composition of protein bodies isolated from cotyledons. Protein bodies were successfully separated by Lympholyte and those of dry seeds, observed by scanning electron microscope, were elliptical or spherical in shape with a diameter of 5-12 μm. Protein content in dry seed protein bodies was 10.6 mg/g dry weight. Globulin was the largest protein fraction isolated (62.5 %), followed by albumin (18.3 %), glutelin (15.8 %) and prolamin (3.4 %). The prolamin fraction and high glutelin content are uncommon in legumes. SDS-PAGE of albumins, globulins, prolamins and glutelins provided different band numbers and molecular weights under reducing and non reducing conditions and suggested that the albumin fraction is rich in disulphide bonds.

Takotsubo Cardiomyopathy: Case Series and Literature Review

PubMed Central

Cavayero, Chase; Kar, Pran; Kar, Sunny

2016-01-01

Although originally considered to be uncommon, Takotsubo cardiomyopathy is becoming increasingly visible, annually comprising an increasing portion of suspected diagnoses of acute coronary syndrome. This condition is characterized by reversible left ventricular akinesis without significant coronary artery obstruction. This case study presents five patients diagnosed with Takotsubo cardiomyopathy, as confirmed by echocardiogram and angiography. All of the patients presented with classic myocardial chest pain and elevated troponins. Following diagnosis, they were treated with supportive measures, particularly angiotensin-converting enzyme inhibitors, and beta-blockers. All patients made a full recovery. Though the mechanism of Takotsubo has not been fully elucidated, hypotheses suggest it may be related to excessive catecholamine levels causing either myocardial stunning or coronary vasospasm. Recognition and understanding of this unusual pathology are essential because it can lead to improved clinical management. PMID:27446769

Recurrent parotitis of childhood or juvenile recurrent parotitis--a review and report of two cases.

PubMed

Adeboye, Solape O; Macleod, Iain

2014-01-01

Recurrent parotitis of childhood is an uncommon condition which affects children of variable age. The condition may be misdiagnosed so delaying treatment. These two case reports highlight the variable signs and symptoms of this unusual condition and the value of ultrasound as an aid to diagnosis. This is to improve awareness of recurrent parotitis of childhood and aid early diagnosis.

First isolation of the Stephanoascus ciferrii in feline otitis in Brazil.

PubMed

Gomes, Angelita dos Reis; Cabana, Ângela Leitzke; Osório, Luiza da Gama; Santin, Rosema; Schuch, Isabel Duarte; Serra, Emanoele Figueiredo; Nascente, Patrícia Silva; Meireles, Mário Carlos Araújo

2014-01-01

Ear infections in cats are uncommon, especially involving yeasts. This report describes the first isolation of the Stephanoascus ciferrii, teleomorph of the Candida genus, in a case of feline otitis in Brazil. The identification and characterization of Stephanoascus ciferrii were confirmed by the Vitek2 System (BioMerieux ®).

Learning to spell in a language with transparent orthography: Distributional properties of orthography and whole-word lexical processing.

PubMed

Angelelli, Paola; Marinelli, Chiara Valeria; Putzolu, Anna; Notarnicola, Alessandra; Iaia, Marika; Burani, Cristina

2018-03-01

We examined how whole-word lexical information and knowledge of distributional properties of orthography interact in children's spelling. High- versus low-frequency words, which included inconsistently spelled segments occurring more or less frequently in the orthography, were used in two experiments: (a) word spelling; (b) lexical priming of pseudoword spelling. Participants were 1st-, 2nd-, and 4th-grade Italian children. Word spelling showed sensitivity to the distributional properties of orthography in all children: accuracy in spelling uncommon transcription segments emerged progressively as a function of word frequency and schooling. Lexical priming effects emerged as a function of age. When related primes contained an uncommon segment, 2nd- and 4th-graders preferred uncommon segments than common ones in spelling target pseudowords, thus inverting the response trend found in the control condition. A smaller but significant effect was present in 1st- graders, who, unlike 2nd- and 4th-graders, still preferred common segments, only slightly increasing the use of uncommon ones. A larger priming effect emerged for high-frequency primes than low-frequency ones. Results indicate that children learning to spell in a transparent orthography are sensitive to the distributional properties of the orthography. However, whole-word lexical representations are also used, with larger effects in more skilled pupils.

A Pilot Study of Women’s Affective Responses to Common and Uncommon Forms of Aerobic Exercise

PubMed Central

Stevens, Courtney J.; Smith, Jane Ellen; Bryan, Angela D.

2015-01-01

Objective To test the extent to which participants exposed to an uncommon versus common exercise stimulus would result in more favourable affect at post task. Design Experimental design. Participants, (N = 120) American women aged 18–45 years, were randomly assigned to complete 30-minutes of either the uncommon (HOOP; n = 58) or common (WALK; n = 62) exercise stimulus. Main Outcome Measures Self-reported affect and intentions for future exercise were measured before and after the 30-minute exercise bout. Results Analyses of covariance (ANCOVA) were run to compare post-task affect across the HOOP and WALK conditions. At post-task, participants assigned to HOOP reported more positively valenced affect, higher ratings of positive activated affect, lower ratings of negative deactivated affect, and stronger intentions for future aerobic exercise compared to participants assigned to WALK. Conclusions Participants who completed an uncommon bout of aerobic exercise (HOOP) reported more favourable affect post-exercise, as well as stronger intentions for future exercise, compared to participants who completed a common bout of aerobic exercise (WALK). Future work using a longitudinal design is needed to understand the relationships between familiarity with an exercise stimulus, affective responses to exercise, motivation for future exercise behaviour, and exercise maintenance over time. PMID:26394246

Imaging Review of Skeletal Tumors of the Pelvis Malignant Tumors and Tumor Mimics

PubMed Central

Girish, Gandikota; Finlay, Karen; Fessell, David; Pai, Deepa; Dong, Qian; Jamadar, David

2012-01-01

Malignant lesions of the pelvis are not uncommon and need to be differentiated from benign lesions and tumor mimics. Appearances are sometimes nonspecific leading to consideration of a broad differential diagnosis. Clinical history, anatomic location, and imaging characterization can help narrow the differential diagnosis. The focus of this paper is to demonstrate the imaging features and the role of plain films, computed tomography, and magnetic resonance imaging for detecting and characterizing malignant osseous pelvic lesions and their common mimics. PMID:22593667

Familial florid Cemento-osseous dysplasia - case report and review of literature.

PubMed

Thorawat, Amit; Kalkur, Chaitra; Naikmasur, Venkatesh G; Tarakji, Bassel

2015-12-01

Familial Florid cemento-osseous dysplasia is a very uncommon condition. Cemento-osseous dysplasia is totally asymptomatic in many cases, in those conditions, lesions are detected in a radiograph taken for other purposes. In this report, we describe a family in which mother and daughter exhibited clinical, radiographic, and histologic features of florid cemento-osseous dysplasia.

Genetics Home Reference: autosomal dominant partial epilepsy with auditory features

MedlinePlus

... Twitter Home Health Conditions ADPEAF Autosomal dominant partial epilepsy with auditory features Printable PDF Open All Close ... the expand/collapse boxes. Description Autosomal dominant partial epilepsy with auditory features ( ADPEAF ) is an uncommon form ...

Lobular Carcinoma In Situ (LCIS)

MedlinePlus

Lobular carcinoma in situ (LCIS) Overview Lobular carcinoma in situ (LCIS) is an uncommon condition in which abnormal cells form in the ... of developing invasive breast cancer. Symptoms Lobular carcinoma in situ (LCIS) doesn't cause signs or symptoms. Rather, ...

Intracranial imaging of uncommon diseases is more frequently reported in clinical publications than in radiology publications.

PubMed

Lehman, V T; Doolittle, D A; Hunt, C H; Eckel, L J; Black, D F; Schwartz, K M; Diehn, F E

2014-01-01

Descriptions of uncommon diseases with intracranial imaging abnormalities are often difficult to find in the radiology literature. We hypothesized that reported imaging findings of such conditions in the recent literature were more frequent in clinical compared with radiology journals. PubMed searches from December 1, 2007 to December 1, 2012 were performed for 5 uncommon CNS diseases with intracranial imaging manifestations: 1) Susac syndrome; 2) amyloid β-related angiitis; 3) Parry-Romberg syndrome/en coup de sabre; 4) transient lesion of the splenium of the corpus callosum; and 5) reversible cerebral vasoconstriction syndrome. Articles were classified as a case report, case series, or original research. Journals were categorized as radiology or clinical. The 1- and 5-year Impact Factors of the journals were recorded. Two hundred two articles were identified for the 5 diseases, including 151 (74%) case reports, 26 case series (13%), and 25 original research articles (13%); 179 (89%) were published in nonradiology journals, compared with 23 (11%) in radiology journals. There was no significant difference between the mean 1- and 5-year Impact Factors of the radiology and clinical journals. Recent reports of the selected uncommon diseases with intracranial manifestations are more frequent in clinical journals when compared with dedicated radiology publications. Most publications are case reports. Radiologists should review both radiology and clinical journals when reviewing imaging features of uncommon diseases affecting the brain. Lack of reporting on such disease in the radiology literature may have significant practice, educational, and research implications for the radiology community.

SOX2 anophthalmia syndrome and dental anomalies.

PubMed

Chacon-Camacho, Oscar Francisco; Fuerte-Flores, Bertha Irene; Ricardez-Marcial, Edgar F; Zenteno, Juan Carlos

2015-11-01

SOX2 anophthalmia syndrome is an uncommon autosomal dominant syndrome caused by mutations in the SOX2 gene and clinically characterized by severe eye malformations (anophthalmia/microphthalmia) and extraocular anomalies mainly involving brain, esophagus, and genitalia. In this work, a patient with the SOX2 anophthalmia syndrome and exhibiting a novel dental anomaly is described. SOX2 genotyping in this patient revealed an apparently de novo c.70del20 deletion, a commonly reported SOX2 mutation. A review of the phenotypic variation observed in patients carrying the recurrent SOX2 c.70del20 mutation is presented. Although dental anomalies are uncommonly reported in the SOX2 anophthalmia syndrome, we suggest that a dental examination should be performed in patients with SOX2 mutations. © 2015 Wiley Periodicals, Inc.

Takotsubo cardiomyopathy precipitated by maxillofacial surgery and general anesthesia: a case report and review of literature.

PubMed

Bruckman, Karl C; Taub, Daniel I; McNulty, Stephen E

2013-12-01

Takotsubo cardiomyopathy (TCM) is a syndrome characterized by a transient episode of heart failure. The specific etiology of this condition is widely speculated. The purpose of this case report and literature review was to investigate the incidence of TCM with regard to general anesthesia, especially those cases involving operative procedures within the realm of oral and maxillofacial surgery. It is intended that the present case serve as a guide for fellow surgeons to identify and manage this syndrome. The present case was explained and a review of the literature was performed. PubMed was used to search for articles involving surgical procedures under general anesthesia, including oral and maxillofacial surgery. It was determined that TCM rarely occurs in conjunction with surgical procedures under general anesthesia, especially those of the head and neck region. TCM is an uncommon medical condition with significant morbidity and mortality when managed incorrectly. The occurrence of this syndrome in relation to oral and maxillofacial procedures is also rare, although it is imperative that surgeons be able to recognize and treat this condition appropriately. Copyright © 2013 American Association of Oral and Maxillofacial Surgeons. Published by Elsevier Inc. All rights reserved.

Microbial Existence in Controlled Habitats and Their Resistance to Space Conditions

PubMed Central

Venkateswaran, Kasthuri; La Duc, Myron T.; Horneck, Gerda

2014-01-01

The National Research Council (NRC) has recently recognized the International Space Station (ISS) as uniquely suitable for furthering the study of microbial species in closed habitats. Answering the NRC’s call for the study, in particular, of uncommon microbial species in the ISS, and/or of those that have significantly increased or decreased in number, space microbiologists have begun capitalizing on the maturity, speed, and cost-effectiveness of molecular/genomic microbiological technologies to elucidate changes in microbial populations in the ISS and other closed habitats. Since investigators can only collect samples infrequently from the ISS itself due to logistical reasons, Earth analogs, such as spacecraft-assembly clean rooms, are used and extensively characterized for the presence of microbes. Microbiologists identify the predominant, problematic, and extremophilic microbial species in these closed habitats and use the ISS as a testbed to study their resistance to extreme extraterrestrial environmental conditions. Investigators monitor the microbes exposed to the real space conditions in order to track their genomic changes in response to the selective pressures present in outer space (external to the ISS) and the spaceflight (in the interior of the ISS). In this review, we discussed the presence of microbes in space research-related closed habitats and the resistance of some microbial species to the extreme environmental conditions of space. PMID:25130881

Microbial existence in controlled habitats and their resistance to space conditions.

PubMed

Venkateswaran, Kasthuri; La Duc, Myron T; Horneck, Gerda

2014-09-17

The National Research Council (NRC) has recently recognized the International Space Station (ISS) as uniquely suitable for furthering the study of microbial species in closed habitats. Answering the NRC's call for the study, in particular, of uncommon microbial species in the ISS, and/or of those that have significantly increased or decreased in number, space microbiologists have begun capitalizing on the maturity, speed, and cost-effectiveness of molecular/genomic microbiological technologies to elucidate changes in microbial populations in the ISS and other closed habitats. Since investigators can only collect samples infrequently from the ISS itself due to logistical reasons, Earth analogs, such as spacecraft-assembly clean rooms, are used and extensively characterized for the presence of microbes. Microbiologists identify the predominant, problematic, and extremophilic microbial species in these closed habitats and use the ISS as a testbed to study their resistance to extreme extraterrestrial environmental conditions. Investigators monitor the microbes exposed to the real space conditions in order to track their genomic changes in response to the selective pressures present in outer space (external to the ISS) and the spaceflight (in the interior of the ISS). In this review, we discussed the presence of microbes in space research-related closed habitats and the resistance of some microbial species to the extreme environmental conditions of space.

Dynamic camouflage by Nassau groupers Epinephelus striatus on a Caribbean coral reef.

PubMed

Watson, A C; Siemann, L A; Hanlon, R T

2014-11-01

This field study describes the camouflage pattern repertoire, associated behaviours and speed of pattern change of Nassau groupers Epinephelus striatus at Little Cayman Island, British West Indies. Three basic camouflaged body patterns were observed under natural conditions and characterized quantitatively. The mean speed of pattern change across the entire body was 4.44 s (range = 0.97-9.87 s); the fastest pattern change as well as contrast change within a fixed pattern occurred within 1 s. Aside from apparent defensive camouflage, E. striatus used camouflage offensively to approach crustacean or fish prey, and three successful predation events were recorded. Although animal camouflage is a widespread tactic, dynamic camouflage is relatively uncommon and has been studied rarely in marine teleosts under natural conditions. The rapid changes observed in E. striatus suggest direct neural control of some skin colouration elements, and comparative studies of functional morphology and behaviour of colour change in other coral-reef teleosts are likely to reveal new mechanisms and adaptations of dynamic colouration. © 2014 The Fisheries Society of the British Isles.

[Diabetes insipidus].

PubMed

Krysiak, Robert; Handzlik-Orlik, Gabriela; Okopień, Bogusław

2014-01-01

Diabetes insipidus is an uncommon disorder of water-electrolyte balance characterized by the excretion of abnormally large volumes of diluted urine (polyuria) and increased fluid intake (polydipsia). The disease may result from the insufficient production of vasopressin, its increased degradation, an impaired response of kidneys to vasopressin, or may be secondary to excessive water intake. Patients with severe and uncompensated symptoms may develop marked dehydration, neurologic symptoms and encephalopathy, and therefore diabetes insipidus can be a life-threatening condition if not properly diagnosed and managed. Patients with diabetes insipidus require treatment with desmopressin or drugs increasing sensitivity of the distal nephron to vasopressin, but this treatment may be confusing because of the disorder's variable pathophysiology and side-effects of pharmacotherapy. This review summarizes the current knowledge on different aspects of the pathophysiology, classification, clinical presentation, diagnosis, and management of diabetes insipidus. The reader is also provided with some practical recommendations on dealing with patients suffering from this disease.

Necrotizing fasciitis in a patient with type 2 diabetes mellitus.

PubMed

Kanuck, David M; Zgonis, Thomas; Jolly, Gary Peter

2006-01-01

Necrotizing fasciitis is a soft-tissue infection characterized by extensive necrosis of subcutaneous fat, neurovascular structures, and fascia. In general, fascial necrosis precedes muscle and skin involvement, hence its namesake. Initially, this uncommon and rapidly progressive disease process can present as a form of cellulitis or superficial abscess. However, the high morbidity and mortality rates associated with necrotizing fasciitis suggest a more serious, ominous condition. A delay in diagnosis can result in progressive advancement highlighted by widespread infection, multiple-organ involvement, and, ultimately, death. We present a case of limb salvage in a 52-year-old patient with type 2 diabetes mellitus and progressive fascial necrosis. A detailed review of the literature is presented, and current treatment modalities are described. Aggressive surgical debridement, comprehensive medical management of the sepsis and comorbidities, and timely closure of the resultant wound or wounds are essential for a successful outcome.

Rehabilitation of the Pontine Ataxia-Dysmetria Syndrome.

PubMed

Li, Stephanie; Hartman, Kasondra; Surapaneni, Krishna; Altschuler, Eric L

2017-06-01

We present a case of a patient with significant ataxia and dysmetria following a lacunar pontine infarction and review the literature on this uncommon syndrome. The patient had an excellent clinical course with near resolution of symptoms and signs in less than 3 weeks. We illustrate the patient's ataxia and dysmetria with videos and also use the videos to demonstrate and characterize the features of the dysmetria. Interestingly, the characteristics of the dysmetria appear to be different from those seen in patients with dysmetria arising from a cerebellar or thalamic lesion. We discuss the likely neurophysiologic mechanisms responsible for the condition and recovery. Simple noninvasive study of patients with ataxia and dysmetria secondary to a pontine lacunar infarct may be most helpful in elucidating the contribution of pontocerebellar fibers to motor control. V. Copyright © 2017 American Academy of Physical Medicine and Rehabilitation. Published by Elsevier Inc. All rights reserved.

The Hot Orbit: Orbital Cellulitis

PubMed Central

Chaudhry, Imtiaz A.; Al-Rashed, Waleed; Arat, Yonca O.

2012-01-01

Orbital cellulitis is an uncommon condition previously associated with severe complications. If untreated, orbital cellulitis can be potentially sight and life threatening. It can affect both adults and children but has a greater tendency to occur in the pediatric age group. The infection most commonly originates from sinuses, eyelids or face, retained foreign bodies, or distant soources by hematogenous spread. It is characterized by eyelid edema, erythema, chemosis, proptosis, blurred vision, fever, headache, and double vision. A history of upper respiratory tract infection prior to the onset is very common especially in children. In the era prior to antibiotics, vision loss from orbital cellulitis was a dreaded complication. Currently, imaging studies for detection of orbital abcess, the use of antibiotics and early drainage have mitigated visual morbidity significantly. The purpose of this review is to describe current investigative strategies and management options in the treatment of orbital cellulitis, establish their effectiveness and possible complications due to late intervention. PMID:22346113

Stent Angioplasty of Closed Mesocaval Shunt in a Patient with Budd-Chiari Syndrome

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

Sancak, Tanzer; Karagulle, Ayse Tuba; Bilgic, Sadik

Budd-Chiari syndrome (BCS) is an uncommon disorder caused by hepatic venous outflow obstruction. It is characterized by ascites, hepatomegaly and abdominal pain. Percutaneous intervention shave recently been used for the treatment of BCS. We present a case of BCS with a closed mesocaval shunt which was reopened with a self-expandable metallic stent.

Temporomandibular joint dislocation

PubMed Central

Sharma, Naresh Kumar; Singh, Akhilesh Kumar; Pandey, Arun; Verma, Vishal; Singh, Shreya

2015-01-01

Temporomandibular joint (TMJ) dislocation is an uncommon but debilitating condition of the facial skeleton. The condition may be acute or chronic. Acute TMJ dislocation is common in clinical practice and can be managed easily with manual reduction. Chronic recurrent TMJ dislocation is a challenging situation to manage. In this article, we discuss the comprehensive review of the different treatment modalities in managing TMJ dislocation. PMID:26668447

Peritonitis Following Duodenal Ulcer Perforation in a Newborn: A Case Report.

PubMed

Amouei, Abdolhamid; Ehsani, Fatemeh; Zarch, Mojtaba Babaei; Tabatabaei, Seyed Mostafa; Ghodratipour, Zahra

2016-11-01

Duodenal ulcer is an uncommon condition in children, that is why it is not usually considered as the differential diagnosis unless it presents with complications including perforation and haemorrhage. Moreover, duodenal ulcer perforation is an uncommon entity in paediatric age group. Early diagnosis and treatment is crucial in order to improve survival. A three-day-old male neonate was admitted to our hospital because of abdominal distension. The neonate was lethargic. He underwent laparotomy. There was a perforated ulcer, 5×5mm in size, on the anterior aspect of the first part of the duodenum. The perforated ulcer was closed with a single layer. Six-month follow-up revealed no abnormality.

Epidural mass due to aspergillus flavus causing spinal cord compression--a case report and brief update.

PubMed

Tendolkar, U; Sharma, A; Mathur, M; Ranadive, N; Sachdev, M

2005-07-01

Aspergillus infection of the central nervous system (CNS) is an uncommon disease. Most of the reported cases are of sinocranial spread and cases with contiguous spread to spinal cord from lung and other organs are uncommon. A case of pulmonary aspergillosis with extension to thoracic vertebrae forming a paraspinal mass resulting in neurological deficit due to Aspergillus flavus, is reported. The 43 year old patient did not have any obvious predisposing condition. He presented with loss of motor function and succumbed to the infection despite operative intervention and antifungal therapy. A brief update on CNS aspergillosis is presented along with detailed clinical, radiological and laboratory work up of the patient.

Adder bite: an uncommon cause of compartment syndrome in northern hemisphere

PubMed Central

2010-01-01

Snakebite envenomation is an uncommon condition in the northern hemisphere, but requires high vigilance with regard to both the systemic effects of the venom and the locoregional impact on the soft tissues. Bites from the adder, Vipera Berus, may have serious clinical consequences due to systemic effects. A case of a 44-year-old man is reported. The patient was bitten in the right hand. He developed fasciotomy-requiring compartment syndrome of the upper limb. Recognition of this most seldom complication of an adder bite is vital to save the limb. We recommend that the classical signs and symptoms of compartment syndrome serve as indication for surgical decompression. PMID:20854675

Uncommon presentations of tinea versicolor

PubMed Central

Varada, Sowmya; Dabade, Tushar; Loo, Daniel S.

2014-01-01

Tinea versicolor (TV) is a common cutaneous fungal infection characterized by superficial scaling and a mild disturbance of skin pigmentation. It typically affects the chest, upper back, and shoulders. However, involvement of more unusual regions of the body such as the face and scalp, arms and legs, intertriginous sites, genitalia, areolae, and palms and soles has been reported. This report details two such cases observed at our institution: a 32-year-old woman with involvement of the popliteal fossa and a 16-year-old boy with involvement of the groin. The clinician must be aware of these variations in location and perform the appropriate diagnostic workup when lesions have the characteristic morphology of TV despite an unusual location. The etiology, pathophysiology, and epidemiology of TV are reviewed and current literature describing other instances of TV in uncommon locations is discussed. PMID:25126470

Cavernous hemangioma--uncommon presentation in zygomatic bone.

PubMed

Dhupar, Vikas; Yadav, Sunil; Dhupar, Anita; Akkara, Francis

2012-03-01

Hemangiomas are benign vascular neoplasms characterized by an abnormal proliferation of blood vessels. They may occur in any vascularized tissue including skin, subcutaneous tissue, muscle, and bone. Intraosseous hemangiomas are uncommon, constituting less than 1% of all osseous tumors. The most frequent sites are the calvaria and the vertebral column. Involvement of the facial bones is rare and occurs most commonly in the maxilla, mandible, and nasal bones. In literature, only 20 cases of zygomatic involvement have been reported. We report a case of an intraosseous hemangioma of the zygoma with the history and physical findings of slowly growing, bony, hard tumor causing facial and ocular deformity. The typical clinicopathologic and radiologic findings helped to set up the correct diagnosis. Early recognition and excision are recommended to preserve facial contour. Operative blood loss is minimal, and there is no need for preoperative angiography.

Castleman's disease associated with a cerebellar chordoid meningioma and intestinal lymphangiectasia.

PubMed

Jeon, Chul Jin; Kim, Mi Jin; Lee, Jong Seung; Lee, Ji Hyuk; Kong, Doo-Sik; Shin, Hyung Jin; Suh, Yeon Lim; Kim, Kyoung Mee; Choe, Yon Ho

2010-11-01

Castleman's disease (CD) is a rare nonneoplastic lymphoproliferative disorder of unknown etiology. It is characterized by enlarged hyperplastic lymph nodes, usually presenting as a localized mass. Although an intracranial location is very uncommon, it should be considered in the differential diagnosis of a chordoid meningioma. We describe a pediatric case of CD with a cerebellar chordoid meningioma and intestinal lymphangiectasia.

The Evolution of Adolescence and the Adolescence of Evolution: The Coming of Age of Humans and the Theory about the Forces that Made Them

ERIC Educational Resources Information Center

Hawley, Patricia H.

2011-01-01

Adolescence is a period characterized by well-documented growth and change, including reproductive, social, and cognitive development. Though not unheard of, modern evolutionary approaches to adolescence are still relatively uncommon. Recent treatises in developmental biology, however, have yielded new tools through which to explore human…

Brainstem encephalitis: etiologies, treatment, and predictors of outcome

PubMed Central

Tan, Ik Lin; Mowry, Ellen M.; Steele, Sonya U.; Pardo, Carlos A.; McArthur, Justin C.; Nath, Avindra

2016-01-01

Brainstem encephalitis (BE) is an uncommon condition. We sought to characterize clinical presentations, etiologies, response to treatment, and predictors of outcome. We performed a retrospective review of non–HIV infected patients diagnosed with BE at Johns Hopkins Hospital (January 1997–April 2010). We characterized clinical and paraclinical features, and used regression models to assess associations with poor outcome. BE was diagnosed in 81 patients. An etiology was identified in 58 of 81 (71.6 %) of cases, most of which were confirmed or probable inflammatory/autoimmune conditions. Of the remaining 23 cases in which a specific diagnosis remained undefined, clinical presentation, CSF, neuroimaging studies, and outcomes were similar to the inflammatory/autoimmune group. Brain biopsy identified a specific diagnosis in 7 of 14 patients (50 %). Fifteen patients (18.5 %) either died or had a poor outcome. In multivariate logistic regression models, a higher CSF protein (per 5 mg/dl, OR = 1.11, 95 % CI: 1.03–1.20), a higher CSF glucose (per 5 mg/dl, OR = 1.36, 95 % CI: 1.09–1.70), and higher serum glucose (per 5 mg/dl, OR = 1.27, 95 % CI: 1.06–1.52) were independently associated with increased odds of poor outcome. Inflammatory and non-infectious conditions accounted for most cases of BE. Higher CSF protein and glucose were independently associated with poor outcome. In immunocompetent patients with BE of undefined etiology despite extensive investigation, a trial of immunosuppressive treatment may be warranted, though deterioration clinically or on magnetic resonance imaging should prompt a brain biopsy. PMID:23749332

Uncommon localizations of hydatid cyst. Review of the literature.

PubMed

Salamone, G; Licari, L; Randisi, B; Falco, N; Tutino, R; Vaglica, A; Gullo, R; Porello, C; Cocorullo, G; Gulotta, G

2016-01-01

Hydatid disease is an endemic anthropozoonosis with usual localization in liver and lungs. Rarely it localizes in uncommon sites as spleen, skeleton, kidney, brain, cardiac muscle, peritoneum, sub cutis. Complications of uncommon localizations are the same that for usual ones. Review of the literature on rare and atypical localization of hydatid cysts in soft tissues. Key-words used on Pub-Med [(echinococ OR hydatid) AND (soft tissue OR subcutaneous OR cutaneous)] without time limit. There were found 282 articles; 242 were excluded because of muscular or bone localizations. 40 were coherent. Different variables are taken into account: age, sex, geographic area, anatomic localization of the cyst, dimension, symptoms, signs, mobility, blood exams and specific serological tests, imaging techniques for diagnosis, existing of septa in the structure, treatment, anaesthesia, spillage, neo-adjuvant and adjuvant treatment, follow-up period, recurrent lesions. It would be useful create an homogeneous and standardized collection of data of these rare and potentially life-threatening conditions in order to create guide-line of diagnostic and therapeutic process and create (or adopt) unique classification of the lesions.

Neutrophilic progression in a case of polycytemia vera mimicking chronic neutrophilic leukemia: clinical and molecular characterization.

PubMed

Castelli, Roberto; Cugno, Massimo; Gianelli, Umberto; Pancrazzi, Alessandro; Vannucchi, Alessandro Maria

2015-04-01

In a small subset of polycytemia vera (PV), neutrophilia not secondary to reactive conditions or treatment can develop and persist. Clinical significance and morphogenetic alterations associated with this uncommon phenomenon are not well defined. An 81-year-old Caucasian woman, affected by polycytemia vera lasting 17 years, presented in March 2012 with hyperleukocytosis, absolute neutrophilia, and thrombocytosis despite hydroxyurea treatment. All other laboratory parameters were normal, except for an increased neutrophil alkaline phosphatase and lactate dehydrogenase. Reactive neutrophilia due to infection or neoplasia have been ruled out by a total body computerized tomography scan, and by low levels of C reactive protein. Re-evaluation of bone marrow showed hypercellular smears with expansion of granulopoiesis while immature granulocytes were <10% and myeloblasts were <1%. Bone marrow trephine biopsy showed hypercellular marrow, with panmyelosis, increased myeloid/erithroid ratio, polymorphic clusters of megakaryocytes. A loose network of reticulin fibers with many intersections was identified by means of Gomori's silver impregnation. There were no hybrid BCR/ABL gene transcripts of p210, p190 and p230, no mutations in platelet derived growth factor receptors alpha and beta. Flow cytometry on the aspirate showed that CD34+ CD117+ myeloblasts constituted less than 1% of total marrow nucleated cells, mature granulocytes demonstrated persistent expression of CD33. Mutational analysis of the gene CSF3R by PCR amplification revealed no alterations in exons 14-17, including codons 615 and 618. The case presented here represents a possible evolution of PV, albeit very rare. The condition described here differs from the CNL for the persistence of morphological pictures typical of myeloproliferative diseases, for absence of CSF3R gene mutations and for the hyper expansion of the mature granulopoietic series. The clinical significance and morphogenetic alterations associated with this uncommon phenomenon are not well defined. Copyright © 2014 Elsevier GmbH. All rights reserved.

Aerophagia: an uncommon form of self-injury.

PubMed

Holburn, C S

1986-09-01

Aerophagia is a rarely recognized self-injurious behavior that consists of repetitive air swallowing with consequent belching, flatulence, and abdominal distention. The condition causes serious medical problems and can result in death. Possible causes of aerophagia and some attempts to treat it were reviewed briefly.

Recurrent exercise-induced rhabdomyolysis due to low intensity fitness exercise in a healthy young patient

PubMed Central

Karre, Premnath Reddy; Gujral, Jeetinder

2011-01-01

Rhabdomyolysis is an uncommon but life threatening condition that develops due to breakdown of muscle and release of intracellular components into the circulation. A 24-year-old man otherwise healthy was admitted to our hospital because of muscle aches and weakness as well as cola coloured urine developed 3 days after carrying out the low intensity exercise. Diagnosis of rhabdomyolysis was made with creatine kinase (CK) levels of 214 356 U/l. He was treated for a similar condition at age 21. A muscle biopsy was done and the findings were normal. Rhabdomyolysis can develop with low intensity exercise; thus, it be considered in healthy young people. Young people with recurrent rhabdomyolysis due to low intensity exercise, in the absence of obvious medical and physical causes, should be evaluated further to rule out uncommon metabolic diseases. Our case demonstrates that complications especially renal failure in patients with rhabdomyolysis do not correspond to CK levels. PMID:22700603

Recurrent exercise-induced rhabdomyolysis due to low intensity fitness exercise in a healthy young patient.

PubMed

Karre, Premnath Reddy; Gujral, Jeetinder

2011-04-01

Rhabdomyolysis is an uncommon but life threatening condition that develops due to breakdown of muscle and release of intracellular components into the circulation. A 24-year-old man otherwise healthy was admitted to our hospital because of muscle aches and weakness as well as cola coloured urine developed 3 days after carrying out the low intensity exercise. Diagnosis of rhabdomyolysis was made with creatine kinase (CK) levels of 214 356 U/l. He was treated for a similar condition at age 21. A muscle biopsy was done and the findings were normal. Rhabdomyolysis can develop with low intensity exercise; thus, it be considered in healthy young people. Young people with recurrent rhabdomyolysis due to low intensity exercise, in the absence of obvious medical and physical causes, should be evaluated further to rule out uncommon metabolic diseases. Our case demonstrates that complications especially renal failure in patients with rhabdomyolysis do not correspond to CK levels.

Acute Splenic Sequestration Crisis in Adult Sickle Cell Disease: A Report of 16 Cases.

PubMed

Naymagon, Leonard; Pendurti, Gopichand; Billett, Henny H

2015-01-01

Acute splenic sequestration crisis (ASSC), characterized by rapidly progressive anemia and circulatory compromise in the setting of sudden splenic enlargement, is an uncommon entity among adult sickle cell patients. We reviewed cases of adult ASSC encountered at our institution to generate insight into the recognition, diagnosis, and treatment of the condition. Cases of adult ASSC during a 10-year period were identified retrospectively. Patient charts were reviewed for laboratory and imaging results; demographic data and clinical course were collected and reviewed. Sixteen cases of adult ASSC were identified. Most patients presented with pain crisis; only four of 16 patients presented with abdominal pain. The maximum decreases in hemoglobin (Hb) (42.0%) and platelets (62.1%) occurred at day 2.9, delaying identification and treatment. Hemodynamic instability played a large role in dictating risk stratification. Therapy consisted of transfusion (14/16) and splenectomy (5/16). No recurrences were noted in a mean follow-up time of 5.3 years but review of patients' charts demonstrated that at least one of the patients had two prior episodes. Adult ASSC may present with non specific findings and patients may not deteriorate until several days into a previously uneventful hospital course. Changes in platelet counts may be more reliable markers than changes in Hb level since red cell transfusions may interfere with assessments of the sequestration process. This case series of adult ASSC, the largest reported in the literature to date, highlights common clinical, laboratory, radiological, and pathological features of this uncommon entity and helps to guide recognition, diagnosis, and treatment.

A 1:1 pharmaceutical cocrystal of myricetin in combination with uncommon piracetam conformer: X-ray single crystal analysis and mechanochemical synthesis

NASA Astrophysics Data System (ADS)

Sowa, Michał; Ślepokura, Katarzyna; Matczak-Jon, Ewa

2014-01-01

Combination of two Active Pharmaceutical Ingredients, myricetin and piracetam, yields a 1:1 cocrystal characterized by X-ray single-crystal and powder diffraction, Raman spectroscopy, 1H NMR, thermal analysis (DSC and TG-DTA) methods. Constituents of the cocrystalline phase were also investigated in terms of Hirshfeld surfaces. Compounds in their neutral forms cocrystallize in the Pna21 space group of orthorhombic system. Notably, piracetam adopts an uncommon conformation, not encountered in its cocrystals previously described. In the crystal lattice, a three-dimensional hydrogen-bonded network is observed, including formation of a 2D molecular scaffolding motif. A scale-up procedure is readily available with use of solvent-drop grinding method, in which application of a variety of common solvents leads to formation of the cocrystal, as confirmed by XRPD and Raman spectroscopy.

[Strychnine poisoning: uncommon, but does still happen].

PubMed

van Berlo-van de Laar, Inge R F; Arbouw, Maurits E L; Bles, Carmen M A

2015-01-01

Acute strychnine poisoning is an uncommon form of intoxication, characterized by severe tonic clonic seizures and tetanus-like contractions while the patient is fully conscious. It can result in respiratory failure, leading to death. A 47-year-old man was admitted to the casualty department 2 hours after self-poisoning with strychnine. The clinical picture consisted of persistent seizures, which were treated with midazolam and propofol. The patient went into respiratory failure and asystole, so intubation and cardiac massage were initiated. Other complications were severe metabolic acidosis, hyperthermia and rhabdomyolysis with renal failure. The treatment consisted of cooling, hyperhydration and intravenous administration of sodium bicarbonate. He was discharged to a mental care institution with no persistent symptoms 11 days later. Early aggressive treatment of a strychnine intoxication can be life-saving. Knowledge of the clinical picture and the right treatment is important. Treatment is primarily focussed on stopping the convulsions and securing the airway.

Elongated uvula and diagnostic utility of spirometry in upper airway obstruction

PubMed Central

Paliwal, Rajiv; Patel, Satish; Patel, Purvesh; Soni, Hiren

2010-01-01

Elongated uvula is relatively an uncommon condition. Upper airway obstruction is often a missed complication of such a rare condition. Clinical presentations of upper airway obstruction often mimic asthma. Hence it is very easily mis-diagnosed as asthma. Spirometry offers a very simple test to diagnose upper airway obstruction very early and easily. Once diagnosed, the management of elongated uvula, almost exclusively, is surgical excision leading to total cure. Here is a case report of such a rare condition. PMID:20539769

Hypopituitarism in the elderly: a narrative review on clinical management of hypothalamic-pituitary-gonadal, hypothalamic-pituitary-thyroid and hypothalamic-pituitary-adrenal axes dysfunction.

PubMed

Curtò, L; Trimarchi, F

2016-10-01

Hypopituitarism is an uncommon and under-investigated endocrine disorder in old age since signs and symptoms are unspecific and, at least in part, can be attributed to the physiological effects of aging and related co-morbidities. Clinical presentation is often insidious being characterized by non-specific manifestations, such as weight gain, fatigue, low muscle strength, bradipsychism, hypotension or intolerance to cold. In these circumstances, hypopituitarism is a rarely life-threatening condition, but evolution may be more dramatic as a result of pituitary apoplexy, or when a serious condition of adrenal insufficiency suddenly occurs. Clinical presentation depends on the effects that each pituitary deficit can cause, and on their mutual relationship, but also, inevitably, it depends on the severity and duration of the deficit itself, as well as on the general condition of the patient. Indeed, indications and methods of hormone replacement therapy must include the need to normalize the endocrine profile without contributing to the worsening of intercurrent diseases, such as those of glucose and bone metabolism, and the cardiovascular system, or to the increasing cancer risk. Hormonal requirements of elderly patients are reduced compared to young adults, but a prompt diagnosis and appropriate treatment of pituitary deficiencies are strongly recommended, also in this age range.

Student Support for Studies of the Covariance of Fluorescent Coralline Pigments Under Changing Environmental Conditions

DTIC Science & Technology

2002-09-30

sunscreen for the zooxanthellae . A surprising outcome of this experiment was the resilience exhibited by these particular specimens of Montastraea...the remaining three corals died. This variable response to the thermal stress prompted an interest in the genotypic nature of the zooxanthellae ...conditions inhospitable to other taxa of zooxanthellae . Symbiodinium E is uncommon in offshore reefs and in the Bahamas (N. Knowlton, Scripps

Adult gonococcal keratoconjunctivitis with AIDS.

PubMed Central

Lau, R K; Goh, B T; Estreich, S; Cox, S N; Levy, I

1990-01-01

Gonococcal eye infection in adults is an uncommon cause of blindness, where prompt diagnosis and effective treatment are essential in the prevention of ophthalmic morbidity. We present a case report detailing the management and complications encountered in this condition in a patient coinfected with human immunodeficiency virus (HIV). PMID:2306446

Twin troubles--rickets causing myelofibrosis.

PubMed

Kamien, Benjamin; Harris, Linda

2007-01-01

Myelofibrosis is an uncommon condition that causes anaemia, failure to thrive and massive splenomegaly. This case report describes migrant Sudanese twins who developed myelofibrosis secondary to severe rickets from a combination of poor diet, inadequate sun exposure, and a breastfeeding mother who wore hijab and was also vitamin D deficient.

Congenital hypoventilation syndrome and Hirschsprung's disease - Haddad syndrome: A neonatal case presentation.

PubMed

Jaiyeola, P; El-Metwally, D; Viscardi, R; Greene, C; Woo, H

2015-01-01

Congenital central hypoventilation syndrome (CCHS) is an uncommon cause of apnea in the newborn characterized by the occurrence of apnea predominantly during sleep. Haddad syndrome is CCHS with Hirschsprung's disease. We report a newborn with Haddad syndrome that had a family history of spinal muscular atrophy and discuss aspects of CCHS and important considerations in the evaluation of apnea in the term newborn.

Frontal fibrosing alopecia in a postmenopausal woman.

PubMed

Lee, W S; Hwang, S M; Ahn, S K

1997-12-01

A case is presented of a 52-year-old woman in whom clinical and histopathologic findings suggested cicatricial alopecia. Our patient had an uncommon, but distinctive, clinical presentation. It was characterized by bandlike frontal hair loss. This was recently described as patterned cicatricial alopecia, presented in a recent study as postmenopausal frontal hairline recession with scarring. Our patient's case should be differentiated from recognized forms of scarring alopecia.

Recognizing and preventing refeeding syndrome.

PubMed

Adkins, Susan M

2009-01-01

Refeeding syndrome is an uncommon but potentially fatal phenomenon that can occur in patients receiving parenteral, enteral, or oral feedings after a period of sustained malnutrition or starvation. This syndrome is characterized by hypophosphatemia, hypokalemia, and hypomagnesemia. The purpose of this article was to bring an acute awareness of refeeding syndrome to the critical care nurse. The recognition, pathogenesis, clinical manifestations, potential life threatening complications, and treatment are presented.

[Kartagener sindrome (primary ciliary dyskinesia). Report of a case and literature review].

PubMed

Pino Rivero, V; Pardo Romero, G; Iglesias González, R J; Rodríguez Carmona, M; del Castillo Beneyto, F

2007-01-01

Kartagener syndrome (a clinical variant of primary ciliary dyskinesia) is a recessive autossomical disease characterized by the triad of chronic sinusitis, bronchiectasis and situs inversus with dextrocardia. We report one case described in a 8 years old boy who besides presented a seromucous otitis and bronchitis of repetition. Finally we performed a short bibliographic review at respect of this uncommon pathology.

Complex Dynamics in the Basal Ganglia: Health and Disease Beyond the Motor System.

PubMed

Andres, Daniela S; Darbin, Olivier

2018-01-01

The rate and oscillatory hypotheses are the two main current frameworks of basal ganglia pathophysiology. Both hypotheses have emerged from research on movement disorders sharing similar conceptualizations. These pathological conditions are classified either as hypokinetic or hyperkinetic, and the electrophysiological hallmarks of basal ganglia dysfunction are categorized as prokinetic or antikinetic. Although nonmotor symptoms, including neurobehavioral symptoms, are a key manifestation of basal ganglia dysfunction, they are uncommonly accounted for in these models. In patients with Parkinson's disease, the broad spectrum of motor symptoms and neurobehavioral symptoms challenges the concept that basal ganglia disorders can be classified into two categories. The profile of symptoms of basal ganglia dysfunction is best characterized by a breakdown of information processing, accompanied at an electrophysiological level by complex alterations of spiking activity from basal ganglia neurons. The authors argue that the dynamics of the basal ganglia circuit cannot be fully characterized by linear properties such as the firing rate or oscillatory activity. In fact, the neuronal spiking stream of the basal ganglia circuit is irregular but has temporal structure. In this context, entropy was introduced as a measure of probabilistic irregularity in the temporal organization of neuronal activity of the basal ganglia, giving place to the entropy hypothesis of basal ganglia pathology. Obtaining a quantitative characterization of irregularity of spike trains from basal ganglia neurons is key to elaborating a new framework of basal ganglia pathophysiology.

Characterization of rhamnolipids by liquid chromatography/mass spectrometry after solid-phase extraction.

PubMed

Behrens, Beate; Engelen, Jeannine; Tiso, Till; Blank, Lars Mathias; Hayen, Heiko

2016-04-01

Rhamnolipids are surface-active agents with a broad application potential that are produced in complex mixtures by bacteria of the genus Pseudomonas. Analysis from fermentation broth is often characterized by laborious sample preparation and requires hyphenated analytical techniques like liquid chromatography coupled to mass spectrometry (LC-MS) to obtain detailed information about sample composition. In this study, an analytical procedure based on chromatographic method development and characterization of rhamnolipid sample material by LC-MS as well as a comparison of two sample preparation methods, i.e., liquid-liquid extraction and solid-phase extraction, is presented. Efficient separation was achieved under reversed-phase conditions using a mixed propylphenyl and octadecylsilyl-modified silica gel stationary phase. LC-MS/MS analysis of a supernatant from Pseudomonas putida strain KT2440 pVLT33_rhlABC grown on glucose as sole carbon source and purified by solid-phase extraction revealed a total of 20 congeners of di-rhamnolipids, mono-rhamnolipids, and their biosynthetic precursors 3-(3-hydroxyalkanoyloxy)alkanoic acids (HAAs) with different carbon chain lengths from C8 to C14, including three rhamnolipids with uncommon C9 and C11 fatty acid residues. LC-MS and the orcinol assay were used to evaluate the developed solid-phase extraction method in comparison with the established liquid-liquid extraction. Solid-phase extraction exhibited higher yields and reproducibility as well as lower experimental effort.

A taxonomy for user-healthcare robot interaction.

PubMed

Bzura, Conrad; Im, Hosung; Liu, Tammy; Malehorn, Kevin; Padir, Taskin; Tulu, Bengisu

2012-01-01

This paper evaluates existing taxonomies aimed at characterizing the interaction between robots and their users and modifies them for health care applications. The modifications are based on existing robot technologies and user acceptance of robotics. Characterization of the user, or in this case the patient, is a primary focus of the paper, as they present a unique new role as robot users. While therapeutic and monitoring-related applications for robots are still relatively uncommon, we believe they will begin to grow and thus it is important that the spurring relationship between robot and patient is well understood.

Successful microscopic renal autotransplantation for left renal aneurysm associated with segmental arterial mediolysis.

PubMed

Yoshioka, Takashi; Araki, Motoo; Ariyoshi, Yuichi; Wada, Koichiro; Tanaka, Noriyuki; Nasu, Yasutomo

2017-07-01

Segmental arterial mediolysis (SAM) is an uncommon, nonarteriosclerotic vascular disease. SAM is characterized by lysis of arterial media and can lead to aneurysm formation. The renal arteries are the third most common arteries associated with SAM. We report the case of a 32-year-old man with left renal artery aneurysm associated with SAM. We successfully performed left renal autotransplantation using microscopic vascular reconstruction. SAM is characterized by vascular fragility; therefore, microscopic surgery is favorable for treating aneurysms associated with SAM. Copyright © 2016 Society for Vascular Surgery. Published by Elsevier Inc. All rights reserved.

Spontaneous Pneumomediastinum After Electronic Cigarette Use.

PubMed

Marasco, Rita Daniela; Loizzi, Domenico; Ardò, Nicoletta Pia; Fatone, Fabio Nicola; Sollitto, Francesco

2018-06-01

Spontaneous pneumomediastinum is an uncommon condition typically occurring in young men presenting with pleuritic pain, dyspnea, and subcutaneous emphysema. We report an exceptional case of spontaneous pneumomediastinum after electronic cigarette use in an otherwise healthy young man. Copyright © 2018 The Society of Thoracic Surgeons. Published by Elsevier Inc. All rights reserved.

Persistent untreated Riga-Fede disease for 6 years.

PubMed

Ozmen, Bilal; Acar, Ozge

2015-01-01

Riga-Fede disease is an uncommon, benign, ulcerative condition due to dental trauma that can occur at any age. A 9-year-old boy with a painful tongue is presented. Physicians need to recognize Riga-Fede disease and Riga-Fede-like disease to intervene early. © 2015 Wiley Periodicals, Inc.

The Prospects for Collaboration between Schools and Universities To Improve American Education.

ERIC Educational Resources Information Center

Hawley, Willis D.

Collaboration between schools and institutions of higher education (IHE) is usually effective only when values are shared and mutual dependencies are recognized. These conditions are uncommon. The foundation upon which such collaboration could be developed requires several building blocks: (1) developing shared goals regarding teacher learning;…

Degos' disease: a distinctive pattern of disease, chiefly of lupus erythematosus, and not a specific disease per se.

PubMed

Ball, Elizabeth; Newburger, Amy; Ackerman, A Bernard

2003-08-01

Degos' disease, known confusingly as malignant strophic papularis, is an uncommon condition of unknown cause characterized by distinctive infarctive lesions in the skin, gastrointestinal tract, and central nervous system; the lesions at the two latter sites often result in death. We deem Degos' disease to be analogous to lupus erythematosus in the sense that each is fundamentally a systemic pathologic process involving several organs, among them the skin, but, moreover, we regard Degos' disease, in most instances, to be an actual manifestation of lupus erythematosus. Histopathologically, the findings in sections of tissue of skin lesions of Degos' disease are indistinguishable from those of one expression of cutaneous lupus erythematosus; immunopathologically, some patients with morphologic findings stereotypical of Degos' disease display signs characteristic of lupus erythematosus. For these reasons, we consider Degos' disease to be a distinctive pattern of disease, rather than a specific disease per se, just as are erythema multiforme, erythema nodosum, leukocytoclastic vasculitis, Sweet's syndrome, and pyoderma gangrenosum, to name but five of scores of them. The singular pattern that is designated Degos' disease usually is an expression of lupus erythematosus, but, episodically, of conditions like dermatomyositis and rheumatoid arthritis.

Diabetic macular edema, retinopathy and age-related macular degeneration as inflammatory conditions

PubMed Central

2016-01-01

Diabetic macular edema (DME) and diabetic retinopathy (DR) are complications affecting about 25% of all patients with long-standing type 1 and type 2 diabetes mellitus and are a major cause of significant decrease in vision and quality of life. Age-related macular degeneration (AMD) is not uncommon, and diabetes mellitus affects the incidence and progression of AMD through altering hemodynamics, increasing oxidative stress, accumulating advanced glycation end products, etc. Recent studies suggest that DME, DR and AMD are inflammatory conditions characterized by a breakdown of the blood-retinal barrier, inflammatory processes and an increase in vascular permeability. Key factors that seem to have a dominant role in DME, DR and AMD are angiotensin II, prostaglandins and the vascular endothelial growth factor and a deficiency of anti-inflammatory bioactive lipids. The imbalance between pro- and anti-inflammatory eicosanoids and enhanced production of pro-angiogenic factors may initiate the onset and progression of DME, DR and AMD. This implies that bioactive lipids that possess anti-inflammatory actions and suppress the production of angiogenic factors could be employed in the prevention and management of DME, DR and AMD. PMID:27695506

Intramuscular migration of calcific tendinopathy in the rotator cuff: ultrasound appearance and a review of the literature.

PubMed

Becciolini, Marco; Bonacchi, Giovanni; Galletti, Stefano

2016-09-01

Calcific tendinopathy of the shoulder is a common condition caused by calcium hydroxyapatite crystals, affecting the tendons of the rotator cuff. Among uncommon complication, one is the migration of the calcium in the subacromion-subdeltoid bursa. More rare is the intraosseous migration. We present four cases of an even more rare condition, not well described in literature yet, the intramuscular migration of calcium.

Cluster headache with trigeminal neuralgia. An uncommon association that may be more than coincidental.

PubMed

Diamond, S; Freitag, F G; Cohen, J S

1984-02-01

Cluster headache and trigeminal neuralgia (tic douloureux) share a common pattern of exacerbation and remission of pain that is described in similar terms by patients. Although the treatment of these conditions is markedly different, the results of adequate prophylaxis can be extremely impressive in both. The physician who treats headache patients should be aware of the common characteristics of each condition and of the possibility of their concomitant occurrence.

A Gene Homologous to rRNA Methylase Genes Confers Erythromycin and Clindamycin Resistance in Bifidobacterium breve.

PubMed

Martínez, Noelia; Luque, Roberto; Milani, Christian; Ventura, Marco; Bañuelos, Oscar; Margolles, Abelardo

2018-05-15

Bifidobacteria are mutualistic intestinal bacteria, and their presence in the human gut has been associated with health-promoting activities. The presence of antibiotic resistance genes in this genus is controversial, since, although bifidobacteria are nonpathogenic microorganisms, they could serve as reservoirs of resistance determinants for intestinal pathogens. However, until now, few antibiotic resistance determinants have been functionally characterized in this genus. In this work, we show that Bifidobacterium breve CECT7263 displays atypical resistance to erythromycin and clindamycin. In order to delimit the genomic region responsible for the observed resistance phenotype, a library of genomic DNA was constructed and a fragment of 5.8 kb containing a gene homologous to rRNA methylase genes was able to confer erythromycin resistance in Escherichia coli This genomic region seems to be very uncommon, and homologs of the gene have been detected in only one strain of Bifidobacterium longum and two other strains of B. breve In this context, analysis of shotgun metagenomics data sets revealed that the gene is also uncommon in the microbiomes of adults and infants. The structural gene and its upstream region were cloned into a B. breve -sensitive strain, which became resistant after acquiring the genetic material. In vitro conjugation experiments did not allow us to detect gene transfer to other recipients. Nevertheless, prediction of genes potentially acquired through horizontal gene transfer events revealed that the gene is located in a putative genomic island. IMPORTANCE Bifidobacterium breve is a very common human intestinal bacterium. Often described as a pioneer microorganism in the establishment of early-life intestinal microbiota, its presence has been associated with several beneficial effects for the host, including immune stimulation and protection against infections. Therefore, some strains of this species are considered probiotics. In relation to this, because probiotic bacteria are used for human and animal consumption, one of the safety concerns over these bacteria is the presence of antibiotic resistance genes, since the human gut is a densely populated habitat that could favor the transfer of genetic material to potential pathogens. In this study, we analyzed the genetic basis responsible for the erythromycin and clindamycin resistance phenotype of B. breve CECT7263. We were able to identify and characterize a novel gene homologous to rRNA methylase genes which confers erythromycin and clindamycin resistance. This gene seems to be very uncommon in other bifidobacteria and in the gut microbiomes of both adults and infants. Even though conjugation experiments showed the absence of transferability under in vitro conditions, it has been predicted to be located in a putative genomic island recently acquired by specific bifidobacterial strains. Copyright © 2018 American Society for Microbiology.

[Sirenomelia].

PubMed

García, J; Romero-Araus, J

1996-09-01

Sirenomelia is an uncommon congenital malformation of unknown etiology characterized by all degrees of severity in merning, malrotation, and dysgenesis of the lower limbs, combining as it does malformation with several anomalies of the external and internal organs, specially of the urogenital and gastrointestinal systems and other lumbosacral vertebral abnormalities; the severity of the associated malformations are not compatible with life. A genetic mechanism leading to sirenomelia is unlikely, due to the absence of the familial cases.

Takotsubo Cardiomyopathy Resulting in Cardiac Arrest in a Patient Undergoing Liver Transplantation.

PubMed

Can, M Güner; Özer, A; İyigün, M; Gökay, B Vural; Emiroğlu, R

2017-12-01

Cardiac complications during and after liver transplantation are a common cause of death. Although considered to be uncommon, takotsubo cardiomyopathy, which is characterized by reversible left ventricular akinesis without coronary artery obstruction, is becoming increasingly reported. Herein we have presented a case of reversible stress-induced takotsubo cardiomyopathy resulting in cardiac arrest in a patient undergoing liver transplantation. Copyright © 2017 Elsevier Inc. All rights reserved.

Characterization of Midface Fractures Incurred in Recent Wars

DTIC Science & Technology

2012-11-01

reconstruction . Key Words: Maxillofacial, facial fractures, early rigid fixation, blast injury (J Craniofac Surg 2012;23: 1587 1591) The percentage of...evaluated by a facial trauma expert that some of these findings are made. Conversely, it is not uncommon to find fractures that are incorrectly...þ Robert G. Hale, DDS,þ and Rodney K. Chan, MDþ Background: Facial injuries sustained by US military personnel during the wars in Iraq and

Molecular Characterization of Group A Streptococcus Strains Isolated during a Scarlet Fever Outbreak

PubMed Central

Perea-Mejía, Luis M.; Inzunza-Montiel, Alma E.; Cravioto, Alejandro

2002-01-01

Forty group A streptococcus (GAS) isolates, recovered during a scarlet fever outbreak, were grouped based on their DdeI restriction profiles from emm amplicons. Twenty-seven isolates were identified by sequencing as emm2. The emm2 isolates showed the speA1, speB1, and speC1 alleles. Isolation of this GAS type from scarlet fever outbreaks is uncommon. PMID:11773132

Detection of uncommon G3P[3] rotavirus A (RVA) strain in rat possessing a human RVA-like VP6 and a novel NSP2 genotype.

PubMed

Ianiro, Giovanni; Di Bartolo, Ilaria; De Sabato, Luca; Pampiglione, Guglielmo; Ruggeri, Franco M; Ostanello, Fabio

2017-09-01

Rotavirus is one of the leading causes of acute gastroenteritis in infants and young children. RVAs infect not only humans but also a wide range of mammals including rats, which represent a reservoir of several other zoonotic pathogens. Due to the segmented nature of the RVA genome, animal RVA strains can easily adapt to the human host by reassortment with co-infecting human viruses. This study aims to detect and characterize RVA in the intestinal content of Italian sinantropic rats (Rattus rattus). Out of 40 samples examined following molecular approach, one resulted positive for RVA. The molecular characterization of VP1-4, 6 and 7, and NSP1-5 genes by sequencing revealed the genomic constellation G3-P[3]-I1-R11-C11-M10-A22-N18-T14-E18-H13. This uncommon genomic combination includes: the VP1-4,VP7, the NSP1, 3, 4 and 5 gene segments, closely related to those of RVA from rodents, the N18 novel genotype established for the NSP2 gene segment and the human Wa-like VP6 gene, suggesting interspecies reassortment. Copyright © 2017 Elsevier B.V. All rights reserved.

The Natural History of Oral Human Papillomavirus in Young Costa Rican Women.

PubMed

Beachler, Daniel C; Lang Kuhs, Krystle A; Struijk, Linda; Schussler, John; Herrero, Rolando; Porras, Carolina; Hildesheim, Allan; Cortes, Bernal; Sampson, Joshua; Quint, Wim; Gonzalez, Paula; Kreimer, Aimée R

2017-07-01

Oral human papillomavirus (HPV) infection and related oropharyngeal cancer are uncommon in lower-income countries, particularly compared to HPV-associated cervical cancer. However, little is known about the natural history of oral HPV in less-developed settings and how it compares to the natural history of cervical HPV. Three hundred fifty women aged 22 to 33 years from the Costa Rica Vaccine Trial provided exfoliated cells from the cervical and oral regions at 2 visits 2 years apart. Samples from both visits were tested for 25 characterized α HPV types by the SPF10 PCR-DNA enzyme immunoassay-LiPA25 version 1 system. Risk factors for oral HPV persistence were calculated utilizing generalized estimating equations with a logistic link. Among the 82 women with characterized α oral HPV DNA detected at baseline, 14 persisted and were detected 2 years later (17.6%; 95% confidence interval [CI], 10.9-28.5%) and was similar to the persistence of α cervical HPV (40/223; 17.7%; 95% CI, 13.1-23.9%; P = 0.86). Acquisition of new α oral HPV type was low; incident infection (1.7%; 95% CI, 0.6-3.7%). Oral HPV DNA is uncommon in young women in Latin America, and often appears to clear within a few years at similar rates to cervical HPV.

Needle knife-assisted endoscopic polypectomy for a large inflammatory fibroid colon polyp by making its stalk into an omega shape using an endoloop.

PubMed

Kim, Byung Chang; Cheon, Jae Hee; Lee, Sang Kil; Kim, Tae Il; Kim, Hoguen; Kim, Won Ho

2008-08-30

Colonic inflammatory fibroid polyp (IFP) is an uncommon benign polypoid lesion, which is composed of fibroblasts, numerous small vessels and edematous connective tissue with marked eosinophilic inflammatory cell infiltration. This condition is frequently detected in the stomach and small intestine, but uncommon in the colon. Although IFP is a benign lesion, surgical resections are performed in most colonic cases because the polyps are usually too large to resect endoscopically. Only three patients underwent endoscopic polypectomy in our literature reviews. Here, we present a case of IFP in the descending colon successful endoscopically resected using a novel technique of trapping its stalk with an endoloop, forming the stalk into an omega shape, and then dissecting the stalk with a needle knife.

Cole Disease Results from Mutations in ENPP1.

PubMed

Eytan, Ori; Morice-Picard, Fanny; Sarig, Ofer; Ezzedine, Khaled; Isakov, Ofer; Li, Qiaoli; Ishida-Yamamoto, Akemi; Shomron, Noam; Goldsmith, Tomer; Fuchs-Telem, Dana; Adir, Noam; Uitto, Jouni; Orlow, Seth J; Taieb, Alain; Sprecher, Eli

2013-10-03

The coexistence of abnormal keratinization and aberrant pigmentation in a number of cornification disorders has long suggested a mechanistic link between these two processes. Here, we deciphered the genetic basis of Cole disease, a rare autosomal-dominant genodermatosis featuring punctate keratoderma, patchy hypopigmentation, and uncommonly, cutaneous calcifications. Using a combination of exome and direct sequencing, we showed complete cosegregation of the disease phenotype with three heterozygous ENPP1 mutations in three unrelated families. All mutations were found to affect cysteine residues in the somatomedin-B-like 2 (SMB2) domain in the encoded protein, which has been implicated in insulin signaling. ENPP1 encodes ectonucleotide pyrophosphatase/phosphodiesterase 1 (ENPP1), which is responsible for the generation of inorganic pyrophosphate, a natural inhibitor of mineralization. Previously, biallelic mutations in ENPP1 were shown to underlie a number of recessive conditions characterized by ectopic calcification, thus providing evidence of profound phenotypic heterogeneity in ENPP1-associated genetic diseases. Copyright © 2013 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.

Hepatic transcriptomic and metabolic responses of hybrid striped bass to acute and chronic hypoxic insult

USDA-ARS?s Scientific Manuscript database

Striped bass (Morone saxatilis), white bass (Morone chrysops), and their hybrid are an important group of recreational and farmed species in the United States. Regardless of habitat, it is not uncommon for fish of the genus Morone to encounter and cope with conditions of scarce oxygen availability....

Apixaban for the treatment of cerebral venous thrombosis: A case series.

PubMed

Rao, Shishir Keekana; Ibrahim, Mohammad; Hanni, Claudia M; Suchdev, Kushak; Parker, Dennis; Rajamani, Kumar; Mohamed, Wazim

2017-10-15

Venous thrombosis affecting cerebral veins and sinuses (CVT) is an uncommon neurological condition. Traditionally patients are treated with intravenous heparin followed by an oral vitamin K antagonist like warfarin. Direct oral anticoagulants (DOACs) may offer advantages over warfarin. There is evidence to demonstrate the effectiveness of both dabigatran and rivaroxaban. No data, however, has been published describing the use of apixaban in patients with CVT. Report of three cases of CVT and review literature on available treatment options; efficacy and safety of novel oral anticoagulants in patients with systemic thrombosis. All patients presented with typical features of CVT. After confirming the diagnosis, they were acutely treated with heparin and later discharged on apixaban. During follow up visits, they tolerated apixaban well and did not have any bleeding complications. Follow up scans showed resolution of the thrombus and recanalization. CVT is an uncommon neurological condition and is often complicated by associated intraparenchymal hemorrhage. Although not recommended in current guidelines, apixaban may be a safe and effective option for the treatment of CVT. Copyright © 2017 Elsevier B.V. All rights reserved.

Mandibular Actinomyces osteomyelitis complicating florid cemento-osseous dysplasia: case report

PubMed Central

2011-01-01

Background Apart from neoplastic processes, chronic disfiguring and destructive diseases of the mandible are uncommon. Case Presentation We report, perhaps for the first time, the simultaneous occurrence of two such conditions in one patient, in a case that emphasizes the importance of bone biopsy in establishing the correct diagnosis. Florid cemento-osseous dysplasia (FCOD) is a chronic, disfiguring condition of the maxillofacial region. This relatively benign disease is primarily observed in middle-aged women of African ancestry. Cervicofacial actinomycosis is an uncommon and progressive infection caused by bacilli of the Actinomyces genus that typically involves intraoral soft tissues but may also involve bone. The accurate diagnosis of actinomycosis is critical for successful treatment. A diagnosis of osteomyelitis caused by Actinomyces bacteria was diagnosed by bone biopsy in a 53 year-old African-American woman with a longstanding history of FCOD after she presented with a new draining ulcer overlying the mandible. Conclusions Clinicians should be aware of the possibility of actinomycosis arising in the setting of FCOD, and the importance of bone biopsy and cultures in arriving at a definitive and timely diagnosis. PMID:21777471

Mandibular Actinomyces osteomyelitis complicating florid cemento-osseous dysplasia: case report.

PubMed

Smith, Miller H; Harms, Paul W; Newton, Duane W; Lebar, Bill; Edwards, Sean P; Aronoff, David M

2011-07-21

Apart from neoplastic processes, chronic disfiguring and destructive diseases of the mandible are uncommon. We report, perhaps for the first time, the simultaneous occurrence of two such conditions in one patient, in a case that emphasizes the importance of bone biopsy in establishing the correct diagnosis. Florid cemento-osseous dysplasia (FCOD) is a chronic, disfiguring condition of the maxillofacial region. This relatively benign disease is primarily observed in middle-aged women of African ancestry. Cervicofacial actinomycosis is an uncommon and progressive infection caused by bacilli of the Actinomyces genus that typically involves intraoral soft tissues but may also involve bone. The accurate diagnosis of actinomycosis is critical for successful treatment. A diagnosis of osteomyelitis caused by Actinomyces bacteria was diagnosed by bone biopsy in a 53 year-old African-American woman with a longstanding history of FCOD after she presented with a new draining ulcer overlying the mandible. Clinicians should be aware of the possibility of actinomycosis arising in the setting of FCOD, and the importance of bone biopsy and cultures in arriving at a definitive and timely diagnosis.

Laparoscopic Repair of Sportman's Hernia - The Trinidad Experience.

PubMed

Gopeesingh, Anyl; Dan, Dilip; Naraynsingh, Vijay; Hariharan, Seetharaman; Seetahal, Shiva

2014-01-01

Sportman's hernia: (Athletic pubalgia) is an uncommon and poorly understood condition afflicting athletic individuals. Sufferers complain of chronic groin pain and often present diagnostic dilemmas to physicians and physiotherapists. We present a series of cases illustrating the varying presentations of sportman's hernia and diagnostic approaches that can be utilized to exclude common differentials. We also describe laparoscopic mesh repair as an effective treatment option for this condition. © 2013 National Medical Association. Published by Elsevier Inc. All rights reserved.

A rare case of low-solute hyponatremia in a nonalcoholic person.

PubMed

Srisung, Weeraporn; Mankongpaisarnrung, Charoen; Anaele, Cyriacus; Dumrongmongcolgul, Nat; Ahmed, Vaqar

2015-01-01

Low-solute hyponatremia is a relatively uncommon entity of euvolemic hyponatremia. Classic cases were described in alcoholics as beer potomania, which is characterized by hyponatremia in the setting of low-solute intake due to heavy beer drinking. We report a case of low-solute hyponatremia in a nonalcoholic person who was given a solute load, and, subsequently, had excessive diuresis with the resultant rapid increase in serum sodium concentration.

[Gastric adenomyoma clinically simulating hypertrophic pyloric stenosis].

PubMed

Sánchez García, S; Rubio Solís, D; Anes González, G; González Sánchez, S

2016-01-01

Gastric adenomyomas are extremely uncommon benign tumors in children. On histologic examination, these tumors have an epithelial component similar to pancreatic ducts. We present a case of a pyloric adenomyoma that clinically simulated hypertrophic pyloric stenosis in a newborn girl. Imaging tests, fundamentally magnetic resonance imaging, were very important in the characterization and diagnosis of this entity. Copyright © 2016 SERAM. Published by Elsevier España, S.L.U. All rights reserved.

Naval Law Review, Volume 56, 2008

DTIC Science & Technology

2008-01-01

ensuring it is not used to the detriment of others. In the classic 1927 Permanent Court of Justice case, S.S. Lotus , John Basset Moore, writing in...competing rights by determining that the right of 84 S.S. Lotus (Fr. v. Turk.) 1927 P.C.I.J. (ser. A) No...physical abuse and food deprivation are not uncommon. 171 Not surprisingly, at least one critic has characterized the Japanese legal system as “abnormal

[A unique case of secondary takotsubo syndrome].

PubMed

Arcari, Luca; Limite, Luca Rosario; Autore, Camillo; Volpe, Massimo; Musumeci, Maria Beatrice

2018-04-01

Takotsubo syndrome (TTS) is an acute cardiac syndrome characterized by transient systolic left ventricular dysfunction frequently preceded by stressful events. It typically affects postmenopausal women without angiographic evidence of obstructive coronary artery disease. We report here an uncommon occurrence of secondary TTS in a male with coronary artery disease after exogenous catecholamine administration and pacemaker implantation. This unexpected case suggests that, in such clinical scenario, a TTS diagnosis might be considered even in unsuspected individuals.

Molecular cytogenetics and characterization of a ZZ/ZW sex chromosome system in Triportheus nematurus (Characiformes, Characidae).

PubMed

Diniz, Débora; Moreira-Filho, Orlando; Bertollo, Luiz Antonio Carlos

2008-05-01

Chromosomes of Triportheus nematurus, a fish species from family Characidae, were analyzed in order to establish the conventional karyotype, location of C-band positive heterochromatin, Ag-NORs, GC- and AT-rich sites, and mapping of 18S and 5S rDNA with fluorescence in situ hybridization (FISH). The diploid number found was 2n = 52 chromosomes in both males and females. However, the females presented a pair of differentiated heteromorphic chromosomes, characterizing a ZZ/ZW sex chromosome system. The Z chromosome was metacentric and the largest one in the karyotype, bearing C-positive heterochromatin at pericentromeric and telomeric regions. The W chromosome was middle-sized submetacentric, appearing mostly heterochromatic after C-banding and presenting heterogeneous heterochromatin composed of GC- and AT-rich regions revealed by fluorochrome staining. Ag-NORs were also GC-rich and surrounded by heterochromatic regions, being located at the secondary constriction on the short arms of the second chromosome pair, in agreement with 18S rDNA sites detected with FISH. The 18S and 5S rDNA were aligned in tandem, representing an uncommon situation in fishes. The results obtained reinforce the basal condition of the ZZ/ZW sex system in the genus Triportheus, probably arisen prior to speciation in the group.

Ossified Intracranial Meningiomas: Description of the First Series of Cases and Review of the Literature.

PubMed

Caffo, Maria; Caruso, Gerardo; Barresi, Valeria; Tomasello, Francesco

2016-10-01

Metaplastic meningiomas are characterized by mesenchymal differentiation with formation of bone, cartilage, fat, or xanthomatous elements. However the presence of extensive areas of ossification is rare in meningiomas. In addition, intracranial location of ossified meningiomas is uncommon. Surgical management represents the optimal treatment for ossified meningiomas, but ossification may interfere with surgery and condition outcome. By reviewing patient records and contacting patients, families, and referring physicians, the following information was gathered: age, sex, tumor location, clinical presentation, preoperative and postoperative functional status, and surgical data. Each surgical specimen had been formalin-fixed, paraffin-embedded, and cut into parallel 4-μm-thick sections for histological evaluation. Our literature search identified 8 cases, all of whom had undergone surgical treatment. Histopathological analysis revealed the presence of disorganized bone spicules with solitary oval osteocytic nuclei and lined by osteoblasts, with clear evidence of bone tissue in at least 50% of tumor tissue. Here we present the largest series, to our knowledge, of surgically treated intracranial ossified meningiomas reported to date. The mechanism of ossification in these meningiomas remains unclear, and various hypotheses have been formulated. Complete lesion removal, or subtotal debulking in those cases characterized by tenacious adherences to vascular structures and/or critical areas, may represent the optimal treatment. Copyright © 2016 Elsevier Inc. All rights reserved.

Focal status epilepticus as a manifestation of idiopathic hypertrophic cranial pachymeningitis.

PubMed

Navalpotro-Gómez, Irene; Vivanco-Hidalgo, Rosa María; Cuadrado-Godia, Elisa; Medrano-Martorell, Santiago; Alameda-Quitllet, Francisco; Villalba-Martínez, Gloria; Roquer, Jaume

2016-08-15

Idiopathic hypertrophic cranial pachymeningitis (IHCP) is an uncommon disease of unknown etiology characterized by thickening of the cerebral dura mater with possible associated inflammation. The most frequently described clinical symptoms include headache, cranial nerve palsy, and cerebellar dysfunction. Epilepsy and/or status epilepticus as main presentation is very uncommon. Two consecutive cases are presented of patients manifesting focal status epilepticus secondary to IHCP, with clinical, laboratory [blood test and cerebrospinal fluid (CSF) analysis], neuroradiologic [magnetic resonance imaging (MRI) at 3 Tesla and digital subtraction angiography (DSA)], and therapeutic data. One patient underwent meningeal biopsy; pathology findings are also included. Corticosteroid therapy resulted in clinical improvement in both cases, and neuroimaging showed decreased abnormal morphology, compared to initial findings. In the diagnostic approach to focal status epilepticus or epilepsy, IHCP must be considered a potential, although extremely infrequent, cause. Anti-inflammatory treatment is an effective addition to antiepileptic drug therapy in patients with IHCP. Copyright © 2016 Elsevier B.V. All rights reserved.

Spontaneous Coronary Artery Dissection: A Disease-Specific, Social Networking Community–Initiated Study

PubMed Central

Tweet, Marysia S.; Gulati, Rajiv; Aase, Lee A.; Hayes, Sharonne N.

2011-01-01

OBJECTIVE: To develop and assess the feasibility of a novel method for identification, recruitment, and retrospective and prospective evaluation of patients with rare conditions. PATIENTS AND METHODS: This pilot study is a novel example of “patient-initiated research.” After being approached by several members of an international disease-specific support group on a social networking site, we used it to identify patients who had been diagnosed as having at least 1 episode of spontaneous coronary artery dissection and recruited them to participate in a clinical investigation of their condition. Medical records were collected and reviewed, the original diagnosis was independently confirmed by review of imaging studies, and health status (both interval and current) was assessed via specially designed questionnaires and validated assessment tools. RESULTS: Recruitment of all 12 participants was complete within 1 week of institutional review board approval (March 18, 2010). Data collection was completed November 18, 2010. All participants completed the study questionnaires and provided the required medical records and coronary angiograms and ancillary imaging data. CONCLUSION: This study involving patients with spontaneous coronary artery dissection demonstrates the feasibility of and is a successful model for developing a “virtual” multicenter disease registry through disease-specific social media networks to better characterize an uncommon condition. This study is a prime example of patient-initiated research that could be used by other health care professionals and institutions. PMID:21878595

Spontaneous coronary artery dissection: a disease-specific, social networking community-initiated study.

PubMed

Tweet, Marysia S; Gulati, Rajiv; Aase, Lee A; Hayes, Sharonne N

2011-09-01

To develop and assess the feasibility of a novel method for identification, recruitment, and retrospective and prospective evaluation of patients with rare conditions. This pilot study is a novel example of "patient-initiated research." After being approached by several members of an international disease-specific support group on a social networking site, we used it to identify patients who had been diagnosed as having at least 1 episode of spontaneous coronary artery dissection and recruited them to participate in a clinical investigation of their condition. Medical records were collected and reviewed, the original diagnosis was independently confirmed by review of imaging studies, and health status (both interval and current) was assessed via specially designed questionnaires and validated assessment tools. Recruitment of all 12 participants was complete within 1 week of institutional review board approval (March 18, 2010). Data collection was completed November 18, 2010. All participants completed the study questionnaires and provided the required medical records and coronary angiograms and ancillary imaging data. This study involving patients with spontaneous coronary artery dissection demonstrates the feasibility of and is a successful model for developing a "virtual" multicenter disease registry through disease-specific social media networks to better characterize an uncommon condition. This study is a prime example of patient-initiated research that could be used by other health care professionals and institutions.

Injection of Vaseline under Penis Skin for the Purpose of Penis Augmentation.

PubMed

Karakan, Tolga; Ersoy, Erim; Hasçiçek, Metin; Ozgür, Berat Cem; Ozcan, Serkan; Aydın, Arif

2012-01-01

Penile foreign body injection is an uncommon entity produced by penile paraffin, mineral oil, and vaseline injections for the purpose of penile enlargement. Generally, penile subcutaneous and glandular injections for penile augmentation are performed by a nonmedical person, under unacceptable conditions. It will be an aim to share our experiences about penile vaseline injection.

Necrotizing lymphadenitis: If not tuberculosis then what?

PubMed Central

Punjabi, Rhea K.

2018-01-01

We present a rare case of Kikuchi disease in a young lady presenting with fever and cervical lymphadenopathy. Clinically, the disease mimics tuberculosis and lymphoma. Lymph node biopsy is diagnostic and treatment is symptomatic. Although tuberculosis is endemic, clinicians should be aware of uncommon conditions as early recognition of the disease will minimize unnecessary evaluation and treatment. PMID:29915771

Necrotizing lymphadenitis: If not tuberculosis then what?

PubMed

Punjabi, Rhea K

2018-01-01

We present a rare case of Kikuchi disease in a young lady presenting with fever and cervical lymphadenopathy. Clinically, the disease mimics tuberculosis and lymphoma. Lymph node biopsy is diagnostic and treatment is symptomatic. Although tuberculosis is endemic, clinicians should be aware of uncommon conditions as early recognition of the disease will minimize unnecessary evaluation and treatment.

Uncommon Case of a Post-Traumatic Portal Vein Pseudoaneurysm Treated with Percutaneous Transhepatic Stent Grafting

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

Ierardi, Anna Maria, E-mail: amierardi@yahoo.it; Berselli, Mattia, E-mail: mattia.berselli@ospedale.varese.it; Cuffari, Salvatore, E-mail: salvatore.cuffari@ospedale.varese.it

We describe a man who presented with a traumatic portal vein pseudoaneurysm, which was subsequently managed with a percutaneous transhepatic stent graft. This case demonstrates a rarely seen condition in the traumatic population and a novel management strategy, which should be considered in the management of this challenging injury.

Mental Representation of Fractions: It All Depends on Whether They Are Common or Uncommon.

PubMed

Liu, Fuchang

2017-08-13

This study examined whether common and uncommon fractions are mentally represented differently and whether common ones are used in accessing the magnitudes of uncommon ones. In Experiments 1 and 2, college education majors, most of whom were female, Caucasian, and in their early 20s, made comparisons involving common and uncommon fractions. In Experiment 3, participants were presented with comparison tasks involving uncommon fractions and asked to describe the strategies which they used in making such comparisons. Analysis of reaction times and error rates support the hypothesis that for common fractions, it is their holistic real value, rather than their individual components, that gets represented. For uncommon fractions, the access of their magnitudes is a process of retrieving and using a known common one having a similar value. Such results suggest that the development of the cognizance of the magnitudes of fractions may be principally a matter of common ones only and that learners' handling of uncommon fractions may be greatly facilitated through instructions on matching them with common ones having a similar value.

Calciphylaxis: no longer rare; no longer calciphylaxis? A paradigm shift for wound, ostomy and continence nursing.

PubMed

Feeser, Dianne L

2011-01-01

This article challenges conventional wisdom that calciphylaxis is a rare condition. Rather, emerging evidence suggests that calciphylaxis is neither rare nor uncommon. In addition, the term calciphylaxis is questioned because misrepresents the underlying etiology of the condition. Multiple researchers and clinicians advocate abandoning the use of the term, but nursing literature has not yet followed suit. This article reviews the epidemiology, clinical manifestations, diagnosis, prevention, and treatment of this condition and associated wounds, and suggests areas for future research. The WOC nurse's role as an educator, leader, researcher, clinical expert, and patient advocate is summarized.

Bartter Syndrome with Normal Aldosterone Level: An Unusual Presentation.

PubMed

Huque, S S; Rahman, M H; Khatun, S

2016-04-01

Bartter syndrome (BS) is a hereditary disease, with an autosomal recessive or autosomal dominant mode of transmission. It is characterized by salt wasting hypochloraemic, hypokalaemic metabolic alkalosis and hyperreninaemia with normal blood pressure. The primary defect is in the thick ascending limb of loop of Henle (TAL). Herein, we report a case that had typical features of BS like severe dehydration, severe hypokalaemia, metabolic alkalosis and failure to thrive but had normal aldosterone level which is very uncommon.

Primary cutaneous adenosquamous carcinoma of the penis: the first characterization of HPV status in this rare and diagnostically challenging entity with review of glandular carcinomas of the penis.

PubMed

Rush, P S; Shiau, J M; Hibler, B P; Longley, B J; Downs, T M; Bennett, D D

2016-12-01

Glandular and pseudoglandular tumors of the penile skin are extremely uncommon and can present diagnostic challenges. Primary adenosquamous carcinoma of the penis is an extremely rare tumor, composed of distinct areas of malignant squamous and glandular cells, making it a diagnostically challenging entity. The World Health Organization (WHO) recognizes several subtypes of squamous cell carcinoma (SCC), each with its own distinctive pathologic appearance, clinical associations and prognosis. Among these variants is the exceedingly uncommon adenosquamous carcinoma (ASC), representing 1%-2% of all SCC of the penis. Recent large studies have interrogated the presence of human papillomavirus (HPV) in malignant penile tumors and have shown specific morphologic patterns and clinical presentations to associate with HPV status. However, given the rarity of the adenosquamous variant of SCC, it has largely been excluded from these studies. The glandular components of these lesions can present a confusing appearance, particularly when a large tumor is represented on a small biopsy. Here we describe a difficult histologic presentation of this rare tumor, with the first published characterization of the HPV status of this subtype. This case represents a distinctly unusual case of metastatic HPV-positive primary cutaneous adenosquamous carcinoma of the penis. © 2016 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

Computational Analysis of Epidermal Growth Factor Receptor Mutations Predicts Differential Drug Sensitivity Profiles toward Kinase Inhibitors.

PubMed

Akula, Sravani; Kamasani, Swapna; Sivan, Sree Kanth; Manga, Vijjulatha; Vudem, Dashavantha Reddy; Kancha, Rama Krishna

2018-05-01

A significant proportion of patients with lung cancer carry mutations in the EGFR kinase domain. The presence of a deletion mutation in exon 19 or L858R point mutation in the EGFR kinase domain has been shown to cause enhanced efficacy of inhibitor treatment in patients with NSCLC. Several less frequent (uncommon) mutations in the EGFR kinase domain with potential implications in treatment response have also been reported. The role of a limited number of uncommon mutations in drug sensitivity was experimentally verified. However, a huge number of these mutations remain uncharacterized for inhibitor sensitivity or resistance. A large-scale computational analysis of clinically reported 298 point mutants of EGFR kinase domain has been performed, and drug sensitivity profiles for each mutant toward seven kinase inhibitors has been determined by molecular docking. In addition, the relative inhibitor binding affinity toward each drug as compared with that of adenosine triphosphate was calculated for each mutant. The inhibitor sensitivity profiles predicted in this study for a set of previously characterized mutants correlated well with the published clinical, experimental, and computational data. Both the single and compound mutations displayed differential inhibitor sensitivity toward first- and next-generation kinase inhibitors. The present study provides predicted drug sensitivity profiles for a large panel of uncommon EGFR mutations toward multiple inhibitors, which may help clinicians in deciding mutant-specific treatment strategies. Copyright © 2018 International Association for the Study of Lung Cancer. Published by Elsevier Inc. All rights reserved.

Idiopathic intracranial hypertension: ongoing clinical challenges and future prospects

PubMed Central

Julayanont, Parunyou; Karukote, Amputch; Ruthirago, Doungporn; Panikkath, Deepa; Panikkath, Ragesh

2016-01-01

Idiopathic intracranial hypertension (IIH) is an uncommon disorder characterized by increased intracranial pressure without radiological or laboratory evidence of intracranial pathology except empty sella turcica, optic nerve sheath with filled out cerebrospinal fluid spaces, and smooth-walled nonflow-related venous sinus stenosis or collapse. This condition typically affects obese women. The incidence of IIH is increasing with the rising prevalence of obesity. Persistent headache is the most common symptom. Visual impairment is a serious complication that may not be recognized by the patients. This paper reviews clinical manifestations, diagnostic challenges, and current treatments of IIH in adults. Various imaging modalities have been studied on their validity for detection of IIH and papilledema. This review also includes new studies on medical, surgical, and interventional management of this condition. Acetazolamide and topiramate are the only two medications that have been studied in randomized controlled trials about their efficacy in treatment of IIH. In patients who have severe visual impairment or progressive visual deterioration despite medical management, surgical or interventional treatment may be considered. The efficacy and complications of cerebrospinal fluid diversion, optic nerve sheath fenestration, and endovascular venous stenting reported in the last 3 decades have been summarized in this review. Finally, the prospective aspects of biomarkers and treatments are proposed for future research. PMID:26929666

Hashimoto thyroiditis onset after laparoscopic removal of struma ovarii: an overview to unravel a rare and intriguing finding.

PubMed

Laganà, A S; Santoro, G; Triolo, O; Giacobbe, V; Certo, R; Palmara, V

2015-01-01

Struma ovarii is an uncommon type of ovarian tumor derived by germinal cells, characterized by the predominance of thyroid tissue (> 50%); 90-95% of these formations are benign and mainly affect the left ovary, while in 6% of the cases struma ovarii is bilateral. The malignant transformation is a rare condition that often occurs after 50 years. In most instances, diagnosis of malignant struma ovarii is made postoperatively during histological analysis. This tumor appears to derive by one germinal cell through loss of heterozygosity of the androgen receptor gene and of the X chromosome. Clinical symptoms comprise abdominopelvic mass, lower abdominal pain, abnormal vaginal bleeding, and ascites (the occurrence of this condition has been observed in one-third of the cases). The patients with struma ovarii generally do not manifest symptoms related to thyroid hyperfunction, reported only in 8% of the cases, and due to hyperstimulation of the thyroid by auto-antibodies. Thyroid tissue of the struma ovarii, often embedded in a teratoma, may be papillary, follicular or with mixed pattern and it can include elements of mucinous cystoadenomas, Brenner's tumor or carcinoid or melanomas cells. Here the authors report their experience with an unusual case of Hashimoto thyroiditis onset after laparoscopic removal of struma ovarii.

Managing acute coronary syndrome during medical air evacuation from a remote location at sea.

PubMed

Westmoreland, Andrew H

2014-01-01

Coronary emergencies at sea requiring air evacuation are not uncommon. On board a Nimitz-class aircraft carrier while in a remote location, an active duty sailor suffered a myocardial infarction. A medical evacuation by helicopter was necessary. Transfer proved difficult due to the ship's location, poor flying conditions, and the patient's deteriorating condition. This case stresses the importance of expeditious diagnosis, treatment, and air transfer to shore-based facilities capable of providing definitive coronary care. A 33-yr-old man recently started on trazodone due to depression complained of chest pain. The patient was hemodynamically unstable and electrocardiogram showed ST segment elevation and Q waves in the anterior, inferior, and lateral leads. He was air-lifted to the nearest accepting facility with cardiac catheterization capabilities, which was over 300 miles away. Poor weather conditions hindered the pilot's ability to fly the original course. The patient remained critical and medication choices were limited. Even with all of these obstacles, everyone involved performed his or her duties admirably. The patient's condition improved by the time the helicopter landed. He was then rushed by ambulance to the hospital's coronary care unit, where he was successfully treated. This case highlights the need to keep a high index of suspicion when patients complain of chest pain, regardless of age. It is of the utmost importance that individuals capable of thinking and acting quickly are assigned to medical evacuation teams, and that they continue to train regularly, as coronary events at sea are not uncommon.

Detection of Shigella sonnei in a respiratory specimen in a patient with subacute atypical pneumonia.

PubMed

Nahid, Hiwa; Staub, Désirée; Hächler, Herbert; Albrich, Werner C

2017-04-01

Pneumonia caused by shigellosis with or without typical dysentery in immunocompetent patients is an uncommon entity. We describe a case of pneumonia in an immunocompetent, previously healthy middle-aged man from Switzerland without relevant travel history which was presumably caused by Shigella sonnei. He was originally admitted for suspected lung cancer. The clinical picture was remarkable as the patient presented with cough and purulent sputum production, but otherwise no classical signs of pneumonia. Furthermore, there was no diarrhoeal episode in the recent history. It is an uncommon presentation of shigellosis in an immunocompetent person without underlying severe predisposing conditions. We report an unusual identification of S. sonnei as the only identified pathogen from respiratory specimens, which we therefore consider the most likely etiology of this subacute atypical pneumonia. This case illustrates the importance of a complete work-up in a patient whose suspected malignancy could not be proven.

[Telangiectatic osteosarcoma in an infant].

PubMed

Cepeda, María de Los Ángeles; Sosa, Ana Julia; Mora, Glenda

Osteosarcoma is one of the most common types of cancer in childhood and adolescence and it is the most common malignant bone tumor in this group of age. Osteosarcoma is frequently found in long bones of the extremities. There are very few cases described in children under 5 years of age, and according to this review, none in infants. The telangiectatic variant is uncommon, and there are no reported cases before preschool age. A 10-month-old female infant with a lithic tumor of the ninth right rib, which was classified after resection as a telangiectatic osteosarcoma, is presented. Telangiectatic osteosarcoma in the pediatric age is very uncommon. To date, the patient has presented good response to treatment, although the prognosis and survival of this condition is unknown. Copyright © 2017 Hospital Infantil de México Federico Gómez. Publicado por Masson Doyma México S.A. All rights reserved.

Symptomatic pancreatic heterotopia treated by local excision.

PubMed Central

De Friend, D J; Saa-Gandi, F W; Humphrey, C S; Foster, D N

1991-01-01

Non-ulcer dyspepsia is a continuing problem and in many cases a precise cause is never identified. We present five patients with an allegedly uncommon condition--pancreatic heterotopia. They were managed by local excision of the tumour and after a mean (range) follow up of 42 (9-80) months all remain free of the original symptoms. Images Figure 1 Figure 2 PMID:2013433

Tuberculous pseudotumor of the liver

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

Dhekne, R.D.; Moore, W.H.; Long, S.E.

1987-10-01

Tuberculosis of the liver in association with generalized miliary tuberculosis is not an uncommon clinical entity. A solitary tuberculous liver abscess, however, is rare. Two such cases, in which there was no clinical evidence of extrahepatic tuberculosis, are reported. The similarities between this condition and other causes of hepatic lesions are discussed, with particular emphasis placed on the imaging patterns of various diagnostic imaging procedures.

Silicone in HIV-1-infected patients: a cause of misdiagnosed granulomatous disease.

PubMed

Males, Sylvia; Joly, Veronique; Adle-Biassette, Homa; Abgrall, Sophie; Lariven, Sylvie; Leboulanger, Nicolas; Yeni, Patrick

2010-09-01

Granulomatous diseases are common in HIV-infected patients and are usually related to opportunistic infectious or tumoral conditions. We report three cases of uncommon granulomatous disease in HIV-infected patients who had previously received silicone and for which diagnostic investigations remained negative. Copyright © 2010 International Society for Infectious Diseases. Published by Elsevier Ltd. All rights reserved.

Acute gall bladder perforation--a dilemma in early diagnosis.

PubMed Central

Ong, C L; Wong, T H; Rauff, A

1991-01-01

Gall bladder perforation is a rare complication of cholecystitis. A definitive diagnosis is uncommon before surgery and the morbidity and mortality associated with this condition are high. We report six patients with gall bladder perforation to show the difficulty of making an early diagnosis. The history and the clinical findings of these patients are reviewed to highlight diagnostic pitfalls. PMID:1885081

Polyradiculoneuropathy associated to human herpesvirus 2 in an HIV-1-infected patient (Elsberg syndrome): case report and literature review.

PubMed

Suarez-Calvet, Marc; Rojas-Garcia, Ricard; Querol, Luís; Sarmiento, Luís M; Domingo, Pere

2010-02-01

Peripheral nerve disorders are a common complication in HIV patients, reaching 15% of them. Several patterns and aetiologies have been described, being lumbosacral poliradiculoneuropathy one of them. We describe an HIV-1-infected patient who developed lumbosacral poliradiculoneuropathy caused by Human herpesvirus 2 and review the literature about this uncommon condition.

Gynecomastia. A worrisome problem for the patient.

PubMed

Lucas, L M; Kumar, K L; Smith, D L

1987-08-01

Gynecomastia is common in obese or elderly men. Drug-induced breast enlargement is also frequent, whereas other causes of gynecomastia are relatively uncommon. Standardized measurement of breast tissue should be routinely performed in male patients. Diagnostic evaluation should be individualized on the basis of clinical suspicion. Therapy most often involves treating an underlying condition or discontinuing use of an offending drug.

Towards a Critical Re-Appraisal of Ecology Education: Scheduling an Educational Intervention to Revisit the "Balance of Nature" Metaphor

ERIC Educational Resources Information Center

Hovardas, Tasos; Korfiatis, Konstantinos

2011-01-01

The "Balance of Nature" metaphor is a pervasive idea in ecology. However, the scientific community acknowledged during the last decades that equilibrium conditions are rare, while disturbance events are not uncommon. We suggest that the exclusive teaching of the "Balance of Nature" metaphor produces cultural, scientific and learning misconceptions…

Bilateral Adventitial Cystic Disease of the Popliteal Artery: A Case Report

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

Ortiz M, William R.; Lopera, Jorge E., E-mail: Jorge.lopera@utsouthwestern.edu; Gimenez, Carlos R.

2006-04-15

Adventitial cystic disease (ACD) of the popliteal artery is an uncommon vascular condition of unknown etiology. In the present case report, we describe a case of bilateral ACD of the popliteal artery in a 58-year-old male. To the best of our knowledge, this is the first case of bilateral ACD of the popliteal artery reported in the literature.

Struma Ovarii with Papillary Thyroid Carcinoma

PubMed Central

Alvarez, Daniel M.; Lee, Victor; Bhatt, Shweta; Dogra, Vikram S.

2011-01-01

Struma ovarii is an uncommon condition, in which thyroid tissue is the predominant or exclusive element in an ovarian teratoma. Thyroid tissue may demonstrate the same spectrum of pathological features as in the normal thyroid including benign and malignant changes. We present a case of papillary thyroid carcinoma arising in a struma ovarii of the left ovary in a 21-year-old female. PMID:22315711

Deconstructing Chronic Low Back Pain in the Older Adult-Step by Step Evidence and Expert-Based Recommendations for Evaluation and Treatment. Part VI: Lumbar Spinal Stenosis.

PubMed

Fritz, Julie M; Rundell, Sean D; Dougherty, Paul; Gentili, Angela; Kochersberger, Gary; Morone, Natalia E; Naga Raja, Srinivasa; Rodriguez, Eric; Rossi, Michelle I; Shega, Joseph; Sowa, Gwendolyn; Weiner, Debra K

2016-03-01

. To present the sixth in a series of articles designed to deconstruct chronic low back pain (CLBP) in older adults. This article focuses on the evaluation and management of lumbar spinal stenosis (LSS), the most common condition for which older adults undergo spinal surgery. . The evaluation and treatment algorithm, a table articulating the rationale for the individual algorithm components, and stepped-care drug recommendations were developed using a modified Delphi approach. The Principal Investigator, a five-member content expert panel and a nine-member primary care panel were involved in the iterative development of these materials. The illustrative clinical case was taken from the clinical practice of a contributor's colleague (SR). . We present an algorithm and supportive materials to help guide the care of older adults with LSS, a condition that occurs not uncommonly in those with CLBP. The case illustrates the importance of function-focused management and a rational approach to conservative care. . Lumbar spinal stenosis exists not uncommonly in older adults with CLBP and management often can be accomplished without surgery. Treatment should address all conditions in addition to LSS contributing to pain and disability. © 2016 American Academy of Pain Medicine. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com.

Gorlin-Goltz syndrome: A rare case report.

PubMed

Pol, Chetan A; Ghige, Suvarna K; Kalaskar, Ritesh R; Gosavi, Suchitra R

2013-10-01

Gorlin-Goltz syndrome is an uncommon autosomal dominant inherited disorder characterized by numerous basal cell carcinomas, odontogenic keratocysts (OKCs) and musculoskeletal malformations. A rare case of this syndrome observed in a 13-year-old male patient is presented in which multiple OKCs were causing disfigurement of the lower jaw as well as displacement and malocclusion of the teeth. Early diagnosis and treatment of this syndrome is important to reduce the severity of complications including cutaneous and cerebral malignancy and oromaxillofacial deformation and destruction due to jaw cysts.

Aspecific membranous laryngitis after infectious mononucleosis.

PubMed

Di Girolamo, S; Anselmi, M; Piccini, A; De Lauretis, A; Passàli, D

1996-01-01

Aspecific membranous laryngitis is an unusual but very serious complication of viral infections. Here, we report the uncommon finding of infectious mononucleosis characterized by aspecific membranous laryngitis with fever, dysphonia and severe dyspnea in a 12-year-old girl. Endoscopy showed mucopus and sloughed epithelium forming a pseudomembrane covering almost all the supraglottal region and a supraglottal swelling including the epiglottis and arytenoids. The importance of suspecting diphtheria, epiglottitis, viral or bacterial croup and laringo-tracheo-bronchitis and including them in the differential diagnosis is emphasized.

Regiochemically controlled synthesis of a β-4-β' [70]fullerene bis-adduct

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

Cerón, Maira R.; Castro, Edison; Neti, Venkata S. Pavan K.

2016-12-22

A β-4-β' C 70 bis-adduct regioisomer and an uncommon mono-adduct β-malonate C 70 derivative were synthesized by using a Diels–Alder cycloaddition followed by an addition–elimination of bromo-ethylmalonate and a retro-Diels–Alder cycloaddition reaction. Here, we also report the regioselective synthesis and spectroscopic characterization of C s-symmetric tris- and C 2v-symmetric tetra-adducts of C 70, which are the precursors of the mono- and bis-adduct final products.

Cognitive outcome of cerebral fat embolism.

PubMed

Manousakis, Georgios; Han, Dong Y; Backonja, Miroslav

2012-11-01

Cerebral fat embolism is an uncommon but serious complication of long-bone fracture. We report a young adult patient who sustained fat embolism after a femoral fracture. He developed stupor and coma within 24 hours from his injury. His acute recovery was characterized by marked frontal dysfunction. A comprehensive neuropsychological evaluation 4 months later revealed overall normal cognitive function, except for mild residual frontal dysfunction and weakness of verbal memory. Copyright © 2012 National Stroke Association. Published by Elsevier Inc. All rights reserved.

[Superimposed lichen planus pigmentosus].

PubMed

Monteagudo, Benigno; Suarez-Amor, Óscar; Cabanillas, Miguel; de Las Heras, Cristina; Álvarez, Juan Carlos

2014-05-16

Lichen planus pigmentosus is an uncommon variant of lichen planus that is characterized by the insidious onset of dark brown macules in sun-exposed areas and flexural folds. Superimposed linear lichen planus is an exceedingly rare disorder, but it has been found in both lichen planopilaris and lichen planus types. A 39-year-old woman is presented showing a segmental and linear lichen planus associated with non-segmental lesions meeting all criteria for the diagnosis of superimposed linear planus pigmentosus. The segmental lesions were always more pronounced.

Malassezia (Pityrosporum) Folliculitis

PubMed Central

Rubenstein, Richard M.

2014-01-01

Malassezia (Pityrosporum) folliculitis is a fungal acneiform condition commonly misdiagnosed as acne vulgaris. Although often associated with common acne, this condition may persist for years without complete resolution with typical acne medications. Malassezia folliculitis results from overgrowth of yeast present in the normal cutaneous flora. Eruptions may be associated with conditions altering this flora, such as immunosuppression and antibiotic use. The most common presentation is monomorphic papules and pustules, often on the chest, back, posterior arms, and face. Oral antifungals are the most effective treatment and result in rapid improvement. The association with acne vulgaris may require combinations of both antifungal and acne medications. This article reviews and updates readers on this not uncommon, but easily missed, condition. PMID:24688625

Melorheostosis in a pediatric patient.

PubMed

Schreck, Michael A

2005-01-01

Melorheostosis is a nonhereditary and uncommon condition that can affect both adults and children. It can appear on radiographs as increased sclerosis on bones of the upper and lower extremities and may mimic other bony conditions such as osteopoikilosis, osteopetrosis, arthrogryposis multiplex congenita, and osteopathia striata. The sclerotic appearance can differ greatly between adults and children. The skin and subcutaneous tissues may be affected by fibrosis, resulting in contractures of joints and limbs that lead to deformities and limb-length discrepancies. This article reviews the literature on melorheostosis and describes a case in a 10-year-old boy.

Non-syndromic multiple supernumerary teeth in permanent dentition: a rare phenomenon

PubMed Central

Yadav, Rakesh Kumar; Rao, Jitendra; Yadav, Lakhya; Hasija, Mukesh

2013-01-01

Hyperdontia or supernumerary teeth in the absence of associated systemic condition or syndrome is an uncommon phenomenon. Non-syndromic supernumerary teeth need to have periodical radiographic observation. In the case of asymptomatic condition, as they impacted in the jaw, a careful examination is necessary because they may develop into pathological status such as dentigerous cysts. Surgical removal of such teeth is indicated if evidence of any pathologies, such as cystic lesion, resorption, delayed eruption, altered eruption and displacement of adjacent teeth, is evident or have occurred. PMID:23704431

[Drug rash with eosinophilia and systemic symptoms syndrome induced by carbamazepine: Case report].

PubMed

Marín, Jorge Alonso; Ortega, Mayra Alexandra; Sánchez, Isaura Pilar; Pacheco, José Armando

2017-06-01

Drug rash with eosinophilia and systemic symptoms (DRESS) syndrome is a hypersensitivity reaction associated with a variety of drugs, mainly anticonvulsants, which is characterized by systemic symptoms and erythematous lesions, common to other toxicodermas. It is an uncommon clinical entity that requires a high suspicion by clinical staff given its varied initial presentation, and the fact that symptoms can overlap with those of other adverse cutaneous reactions to drugs. Without early diagnosis and appropriate treatment, mortality increases.We report the case of a 22-year-old patient with impaired neurodevelopment who received treatment with carbamazepine. Two months later he presented with general symptoms and skin erythematous lesions that began on his trunk. The patient received outpatient care with antihistamines and antipyretics without an appropriate response. His case progressed with increased skin lesions and systemic symptoms that met the diagnostic criteria for DRESS syndrome. He was hospitalized and received medical treatment according to recommended guidelines. The patient's condition improved as his symptoms and associated complications resolved. He was discharged with gradual clearing of the steroid therapy.

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.

Multiple variations of the coeliac axis, hepatic and renal vasculature as incidental findings illustrated by MDCTA.

PubMed

Rafailidis, Vasileios; Papadopoulos, Georgios; Kouskouras, Konstantinos; Chryssogonidis, Ioannis; Velnidou, Anastasia; Kalogera-Fountzila, Anna

2016-08-01

Vascular anatomical variations are not uncommon and may affect any organ's arterial or venous vasculature. The coexistence of variations in different organic systems is less commonly found, but of great clinical significance in a series of clinical conditions like organ transplantation and surgical preoperative planning. Multidetector computed tomography angiography (MDCTA) has emerged as a valuable alternative to the conventional angiography for accurate evaluation of vascular anatomy and pathology. Radiologists should be familiar with each organ's vascular variations and always report them to the clinician, even if they represent an incidental finding. This case report presents a 52-year-old female patient undergoing abdominal MDCTA for characterization of a renal lesion. This examination revealed the presence of three hilar arteries on the left kidney, a main renal vein in combination with an additional renal vein in both sides along with a replaced right hepatic artery originating from the superior mesenteric artery. Moreover, both inferior phrenic arteries were found originating from the coeliac axis. 3D volume rendering technique images were used in the evaluation of vascular anatomy as illustrated in this case report.

Can patent foramen ovale affect rehabilitation? The uncommon association of platypnea-orthodeoxia syndrome and stroke.

PubMed

Gallerini, S; Calchetti, B; Cianchi, C; Di Troia, A M; Madonna, R; Cresti, A; Mancuso, M

2011-06-01

Platypnea-orthodeoxia is a rare syndrome characterized by dyspnea and deoxygenation induced by a change to a sitting or standing from a recumbent position. It is the result of posturally accentuated intracardiac or pulmonary right-to-left shunt leading to arterial oxygen desaturation. Only few cases of platypnea-orthodeoxia syndrome are reported in the literature and the association between stroke and platypnea-orthodeoxia syndrome with evidence of patent foramen ovale is extremely rare. We describe the case of a 67-year-old female admitted to our Rehabilitation Unit for disabling basilar stroke due to paradoxical embolism from patent foramen ovale that during the first days of rehabilitation showed signs and symptoms of platypnea-orthodeoxia syndrome. To remove a life-threatening condition for the patient and in order to develop the normal rehabilitation project, that was stopped by the platypnea-orthodeoxia syndrome, the patient fastly underwent to percutaneous closure of patent foramen ovale. The stabilization of oxygen arterial saturation with postural changes and the disappearance of symptoms of POS allowed to develop the rehabilitation project with progressive neurological improvement.

Uncommon Success: A Conversation with Brett Peiser

ERIC Educational Resources Information Center

Meyer, Peter

2014-01-01

This article introduces a conversation with Brett Peiser, named chief executive officer of "Uncommon Schools" in July of 2012, along with the principal of North Star Academy Vailsburg Middle School, a charter school in Newark, New Jersey's West Ward. There is no doubt that "Uncommon Schools" has given thousands of low-income…

Demodex Folliculitis of the Scalp: Clinicopathological Study of an Uncommon Entity.

PubMed

Helou, Wissam; Avitan-Hersh, Emily; Bergman, Reuven

2016-09-01

Demodex is a saprophytic mite in humans commonly present in the pilosebaceous units, which has been implicated as a pathogen in several skin conditions. The clinical presentation and histopathology of Demodex folliculitis of the scalp have been described in only a few case reports. This study was performed to further elucidate the clinicopathological features of this entity. We have studied 333 consecutively submitted scalp biopsies performed for hair loss and alopecia. All specimens were completely step-sectioned. Biopsies with Demodex mites were further studied histopathologically, and the patients' clinical files were reviewed. There were 17 biopsies (5.1%) with Demodex in at least 1 pilosebaceous unit. Based on the clinical presentation, histopathology, and response to therapy, Demodex was considered to be nonpathogenic in 13 cases. The remaining 4 cases were characterized by hair loss, scalp erythema, scales, and pustules. There were 2 or more pilosebaceous units with Demodex along mononuclear and/or neutrophilic infiltrates around and in the involved follicles and occasionally granulomas. All 4 cases responded completely to metronidazole therapy. In conclusion, Demodex is infrequently found in scalp biopsies for hair loss and alopecia, and, in most cases, it does not seem to be pathogenic. Occasionally, however, it is associated with folliculitis characterized by hair loss, erythema, scales, and pustules clinically; neutrophilic and/or mononuclear-cell folliculitis with occasional granulomas histopathologically; and a prompt response to anti-Demodex therapy.

Hippocampal sclerosis dementia: an amnesic variant of frontotemporal degeneration

PubMed Central

Onyike, Chiadi U.; Pletnikova, Olga; Sloane, Kelly L.; Sullivan, Campbell; Troncoso, Juan C.; Rabins, Peter V.

2013-01-01

OBJECTIVE To describe characteristics of hippocampal sclerosis dementia. METHODS Convenience sample of Hippocampal sclerosis dementia (HSD) recruited from the Johns Hopkins University Brain Resource Center. Twenty-four cases with post-mortem pathological diagnosis of hippocampal sclerosis dementia were reviewed for clinical characterization. RESULTS The cases showed atrophy and neuronal loss localized to the hippocampus, amygdala and entorrhinal cortex. The majority (79.2%) had amnesia at illness onset, and many (54.2%) showed abnormal conduct and psychiatric disorder. Nearly 42% presented with an amnesic state, and 37.5% presented with amnesia plus abnormal conduct and psychiatric disorder. All eventually developed a behavioral or psychiatric disorder. Disorientation, executive dysfunction, aphasia, agnosia and apraxia were uncommon at onset. Alzheimer disease (AD) was the initial clinical diagnosis in 89% and the final clinical diagnosis in 75%. Diagnosis of frontotemporal dementia (FTD) was uncommon (seen in 8%). CONCLUSION HSD shows pathological characteristics of FTD and clinical features that mimic AD and overlap with FTD. The findings, placed in the context of earlier work, support the proposition that HSD belongs to the FTD family, where it may be identified as an amnesic variant. PMID:24363834

Field experiences with rub induced instabilities in turbomachinery

NASA Technical Reports Server (NTRS)

Goggin, D. G.

1982-01-01

Rotordynamic instability problems are not uncommon in high speed industrial turbomachinery. One type of the many destabilizing forces that can occur is caused by a rub between the stationary and rotating parts. Descriptions are given of several cases of rub induced instabilities. Included in the descriptions are the conditions at onset, the whirl frequency and direction, and the steps taken to eliminate the problem.

"Thank God for Mississippi!" How Disparagement of the South Has Destroyed Public Schooling in New Orleans--and Beyond

ERIC Educational Resources Information Center

Buras, Kristen L.

2015-01-01

It is not uncommon to reference dire conditions in the South to make the nation appear more racially equitable and economically advanced by comparison. In this essay, I argue that the meanings and complexities surrounding commonplace disparagement of the South are not only troubling, but serve to advance the forms of race and class power…

Endogenous lipoid pneumonia associated with Legionella pneumophila serogroup 1.

PubMed

Hui, Chee-Kin

2013-03-01

Endogenous lipoid pneumonia is an uncommon condition. This is a report of a 29-year-old woman diagnosed with endogenous lipoid pneumonia associated with Legionella pneumophila serogroup 1 infection. The patient's endogenous lipoid pneumonia resolved completely after treatment for Legionella pneumophila infection. This suggests that early diagnosis and aggressive treatment of the underlying infection may prevent any long-term sequelae of lipoid pneumonia.

Lower gastrointestinal bleeding secondary to a rectal leiomyoma

PubMed Central

Palma, Giovanni D De; Rega, Maria; Masone, Stefania; Siciliano, Saverio; Persico, Marcello; Salvatori, Francesca; Maione, Francesco; Esposito, Dario; Bellino, Antonio; Persico, Giovanni

2009-01-01

The occurrence of leiomyoma of the rectum is uncommon. Most of these lesions are clinically silent and are found incidentally during laparotomy or endoscopic procedures for unrelated conditions. Symptomatic leiomyomas of the rectum are encountered less frequently, with only sporadic reports in the literature. We describe a case of a leiomyoma of the rectum presenting as recurrent lower gastrointestinal hemorrhage and secondary anemia. PMID:19360922

Tropheryma whipplei endocarditis in Spain

PubMed Central

García-Álvarez, Lara; Sanz, María Mercedes; Marín, Mercedes; Fariñas, MªCarmen; Montejo, Miguel; Goikoetxea, Josune; Rodríguez García, Raquel; de Alarcón, Arístides; Almela, Manuel; Fernández-Hidalgo, Núria; Alonso Socas, María del Mar; Goenaga, Miguel Ángel; Navas, Enrique; Vicioso, Luis; Oteo, José Antonio

2016-01-01

Abstract Tropheryma whipplei endocarditis is an uncommon condition with very few series and <90 cases reported in the literature. The aim of the study was to analyze the epidemiological, clinical, and outcome characteristics of 17 cases of T. whipplei endocarditis recruited in our country from a multicentric cohort from 25 Spanish hospitals from the Spanish Collaboration on Endocarditis—Grupo de Apoyo al Manejo de la Endocarditis infecciosa en España. From a total of 3165 cases included in the cohort, 14.2% were diagnosed of blood culture negative endocarditis (BCNE) and 3.5% of these had T. whipplei endocarditis. This condition was more frequent in men. The average age was 60.3 years. Previous cardiac condition was present in 35.3% of the cases. The main clinical manifestation was cardiac failure (76.5%) while fever was only present in the 35.3%. Ecocardiography showed vegetations in 64.7% of patients. Surgery was performed in all but 1 cases and it allowed the diagnosis when molecular assays were performed. A broad range rRNA 16S polymerase chain reaction was used for first instance in all laboratories and different specific targets for T. whipplei were employed for confirmation. A concomitant Whipple disease was diagnosed in 11.9% of patients. All patients received specific antimicrobial treatment for at least 1 year, with no relapse and complete recovery. T. whipplei endocarditis is an uncommon condition with an atypical presentation that must be considered in the diagnosis of BCNE. The prognosis is very good when an appropriate surgical management and antimicrobial-specific treatment is given. PMID:27368042

Impacts of national surveillance for uncommon conditions in childhood.

PubMed

Zurynski, Yvonne A; Peadon, Elizabeth; Bower, Carol; Elliott, Elizabeth J

2007-11-01

The Australian Paediatric Surveillance Unit (APSU) facilitates the conduct of national collaborative research that is consistent with national health priorities, has potential to impact on public health, and addresses gaps in knowledge. Since 1993 paediatricians and other child health specialists have contributed monthly data on rare childhood conditions to the APSU. Over 40 conditions, including infectious diseases, injuries, vaccine-preventable diseases and genetic disorders have been studied. Information on epidemiology, frequency, diagnosis, management and short-term outcomes of these conditions is collected and provides evidence to support changes to clinical practice, prevention policy and allocation of health resources. In this review we give examples of the value of information gathered through the APSU surveillance system in the last 14 years.

Septicemia caused by Vibrio parahemolyticus: a case report.

PubMed

Hsu, G J; Young, T; Peng, M Y; Chang, F Y; Chou, M Y

1993-11-01

Vibrio parahemolyticus is a halophilic marine vibrio commonly associated with outbreaks of acute gastroenteritis which also sometimes causes serious wound infection. It is an uncommon cause of septicemia. A few reports suggest that patients with chronic liver disease and leukemia are more susceptible. A case of liver cirrhosis with septicemia caused by this organism is discussed. The patient's condition rapidly deteriorated, and he died 12 hours after admission.

Incidental (malignancy) and coincidental (idiopathic polydactylous longitudinal erythronychia) conditions in patients with segmental neurofibromatosis.

PubMed

Cohen, Philip R

2013-04-01

Segmental neurofibromatosis (SNF) is an uncommon presentation of neurofibromatosis type 1 (NF-1). Although patients with SNF are at a lower risk for developing NF-l-associated complications, the estimated occurrence of related malignancies may be approaching the frequency observed in patients with NF-1. Idiopathic polydactylous longitudinal erythronychia also may be associated with SNF, though the frequency of this association remains to be determined.

Diabetes insipidus in pregnancy

PubMed Central

Hague, William M

2009-01-01

Diabetes insipidus is an uncommon condition with various aetiologies. Recent research has uncovered new mechanisms underlying the syndrome. Careful attention to management is essential in pregnant women to avoid serious complications. Diabetes insipidus in pregnancy may be due to relative reduction in secretion of AVP from the posterior pituitary (cranial DI), increase in breakdown of AVP by placental cystine aminopeptidase with vasopressinase activity, or resistance of the rental tubules to AVP (nephrogenic DI). PMID:27579058

Emergent ultrasound evaluation of the pediatric female pelvis.

PubMed

Back, Susan J; Maya, Carolina L; Zewdneh, Daniel; Epelman, Monica

2017-08-01

Ultrasound is the primary imaging modality of the pediatric female pelvis and is often requested to evaluate girls with pelvic or abdominal pain or abnormal bleeding. The US interpretation can help guide the clinician toward medical or surgical management. Here we discuss the normal US anatomy of the female pelvis and illustrate, through case examples, conditions encountered when performing emergent pelvic US for common and uncommon clinical scenarios.

Polycythaemia: an unusual presentation of multiple myeloma.

PubMed

Hutchison, Elaine J; Taverna, Josephine A; Yu, Qi; Yeager, Andrew M

2016-09-20

In contrast to anaemia, polycythaemia is a distinctly uncommon finding in patients with multiple myeloma. We describe the presence of otherwise unexplained polycythaemia in a 57-year-old Caucasian man who was found to have IgG κ multiple myeloma. After treatment of myeloma, the polycythaemia resolved. We reviewed previous reports of polycythaemia associated with multiple myeloma and discuss potential pathophysiological mechanisms that link these 2 conditions. 2016 BMJ Publishing Group Ltd.

[Uncommon foreign body in a nose].

PubMed

Alagić-Smailbegović, Jasminka; Hadzić, Edina; Sutalo, Kamenko; Resić, Mudzahid

2007-01-01

Foreign body in the nose most frequently occurs in childhood. It could be of various origin, pieces of toys, paper and uncommon metal body. Consequences include one- sided nasal breathing problem, nasal secretion and in some cases pain and secretion become purulent. The aim of this paper is to present uncommon foreign body in the nose. RTG diagnosis and extraction are the methods of choice.

De novo autoimmune hepatitis after liver transplantation.

PubMed

Lohse, Ansgar W; Weiler-Norman, Christina; Burdelski, Martin

2007-10-01

The Kings College group was the first to describe a clinical syndrome similar to autoimmune hepatitis in children and young adults transplanted for non-immune mediated liver diseases. They coined the term "de novo autoimmune hepatitis". Several other liver transplant centres confirmed this observation. Even though the condition is uncommon, patients with de novo AIH are now seen in most of the major transplant centres. The disease is usually characterized by features of acute hepatitis in otherwise stable transplant recipients. The most characteristic laboratory hallmark is a marked hypergammaglobulinaemia. Autoantibodies are common, mostly ANA. We described also a case of LKM1-positivity in a patients transplanted for Wilson's disease, however this patients did not develop clinical or histological features of AIH. Development of SLA/LP-autoantibodies is also not described. Therefore, serologically de novo AIH appears to correspond to type 1 AIH. Like classical AIH patients respond promptly to treatment with increased doses of prednisolone and azathioprine, while the calcineurin inhibitors cyclosporine or tacrolimus areof very limited value - which is not surprising, as almost all patients develop de novo AIH while receiving these drugs. Despite the good response to treatment, most patients remain a clinical challenge as complete stable remissions are uncommon and flares, relapses and chronic disease activity can often occur. Pathogenetically this syndrome is intriguing. It is not clear, if the immune response is directed against allo-antigens, neo-antigens in the liver, or self-antigens, possibly shared by donor and host cells. It is very likely that the inflammatory milieu due to alloreactive cells in the transplanted organ contribute to the disease process. Either leading to aberrant antigen presentation, or providing co-stimulatory signals leading to the breaking of self-tolerance. The development of this disease in the presence of treatment with calcineurin inhibitors supports the view held by most specialists in autoimmune hepatitis that these drugs, even though effective in acute disease, are not helpful in the long-term management of autoimmune liver diseases.

Thrombin Injection Failure with Subsequent Successful Stent-Graft Placement for the Treatment of an Extracranial Internal Carotid Pseudoaneurysm in a 5-Year-Old Child

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

Garcia-Monaco, R. D.; Kohan, A. A., E-mail: andreskohan1@gmail.com; Martinez-Corvalan, M. P.

Internal carotid artery pseudoaneurysm is a rare life-threatening condition that may develop in different clinical situations. We report the case of an extracranial internal carotid artery pseudoaneurysm secondary to a throat infection in a pediatric patient that was initially treated with percutaneous thrombin injection under ultrasound guidance. However, recanalization occurred at 48 h, and definitive treatment was then performed by endovascular stent-graft placement. We briefly review the clinical characteristics of this uncommon clinical condition as well as the treatment options.

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.

Gorlin-Goltz syndrome: A rare case report

PubMed Central

Pol, Chetan A; Ghige, Suvarna K; Kalaskar, Ritesh R; Gosavi, Suchitra R

2013-01-01

Gorlin-Goltz syndrome is an uncommon autosomal dominant inherited disorder characterized by numerous basal cell carcinomas, odontogenic keratocysts (OKCs) and musculoskeletal malformations. A rare case of this syndrome observed in a 13-year-old male patient is presented in which multiple OKCs were causing disfigurement of the lower jaw as well as displacement and malocclusion of the teeth. Early diagnosis and treatment of this syndrome is important to reduce the severity of complications including cutaneous and cerebral malignancy and oromaxillofacial deformation and destruction due to jaw cysts. PMID:24403808

A Long-Term Psychological Observation in an Adolescent Affected with Gardner Diamond Syndrome

PubMed Central

Bizzi, Fabiola; Sciarretta, Lucia; D’Alessandro, Matteo; Picco, Paolo

2016-01-01

Gardner-Diamond syndrome (GDS) is an uncommon disease clinically characterized by a wide spectrum of psycho-emotive symptoms associated with painful ecchymoses/purpuric lesions and positivity of auto-erythrocyte sensitization skin test. Herein, a perspective clinical and psychological observation of an adolescent GDS is firstly reported focusing on her psychological features long-term monitored for a 1-year period. The administration of a standardized tools battery allowed us to define psychological features of the young patient over time and to monitored clinical course and response to treatment. PMID:27011410

Anti-NMDA Encephalitis: An Uncommon, Autoimmune Mediated Form of Encephalitis

PubMed Central

Azizyan, Avetis; Albrektson, Joshua R; Maya, Marcel M; Pressman, Barry D; Moser, Franklin

2014-01-01

We report an interesting case of a 19 year old female with findings on MRI suggestive of viral encephalitis. An extensive workup was negative for infectious causes and she was subsequently diagnosed with anti-NMDA encephalitis. Anti-NMDA encephalitis is a highly lethal but treatable form of autoimmune encephalitis that has recently been characterized. It is frequently found in young women and associated with an underlying teratoma. Although rare, this diagnosis should be considered in young females for whom a rapid onset of encephalitis cannot be explained by more common causes. PMID:25426239

Iatrogenic Cushing's syndrome caused by intranasal steroid use.

PubMed

Dursun, Fatma; Kirmizibekmez, Heves

2017-01-01

Cushing's syndrome (CS) is common after oral steroid use and has also been reported following topical or inhaled use, but it is extremely uncommon after intranasal administration. This is the case of a 6-year-old child who developed Cushing's syndrome after intranasal application of dexamethasone sodium phosphate for a period of 6 months. Pediatricians and other clinical practitioners should be aware that high-dose and long-term nasal steroid administration may cause iatrogenic Cushing's syndrome characterized by complications of glucocorticoid excess as well as serious and even life-threatening complications of adrenal insufficiency.

A case of eczematid-like purpura of Doucas and Kapetanakis in a child.

PubMed

Vedak, Priyanka; Nazarian, Rosalynn M; Kroshinsky, Daniela

2015-01-01

Eczematid-like purpura of Doucas and Kapetanakis is a subtype of the pigmented purpuric dermatoses, a group of uncommon dermatoses of unclear etiology characterized by purpura, petechiae, and hyperpigmentation. The Doucas and Kapetanakis subtype is rare in children, and its subtle findings can initially be overlooked and mistaken for other, more common dermatologic disorders in this age group. We present a case eczematid-like purpura of Doucas and Kapetanakis in an 11-year-old boy initially treated as eczema. © 2015 Wiley Periodicals, Inc.

[Characterization of an extracellular glycolipid from Lentinus edodes (Berk.) Sing [Lentinula edodes (Berk.) Pegler

PubMed

Tsivileva, O M; Nikitina, V E; Makarov, O E

2008-01-01

Submerged mycelium of a xylotrophic basidiomycete Lentinus edodes produces an extracellular glycolipid, S3, associated with a lectin. Galactose glycan residue, as well as the lipid pool composition, which includes nonhydroxylated short-chain fatty acids, is uncommon for basidiomycetes. The glycolipid consists of D-galactopyranose (15% of S3 contains galactose sulfate) acylated by octadecanoic and nonadecanoic fatty acid residues (28 and 72%, respectively). The glycolipid structure and composition are confirmed by physicochemical analysis. The glycolipid is assumed to be a regulator of lectin activity.

Aneurysmal Bone Cysts of the Spine: Two Case Reports

PubMed Central

Ozdemir, Seymen; Ozden, Ferhat; Kacira, Ozlem Kitiki; Kacira, Tibet

2014-01-01

Aneurysmal bone cysts are rare entities which causes expansile and destructive bone lesions characterized by reactive proliferation of connective tissue. They usually grow rapidly with hypervascularity. In clinical practice they can be easily misdiagnosed due to the rare occurance and having no such typical findings as radiologically. Most cases have uncommon pain symptoms, but rarely, if fractures occur, neurological findings can be seen and the surgical treatment, if needed, could be difficult. We will discuss our evaluations to two cases that we experienced in our clinic in this report. PMID:25620988

Aneurysmal bone cysts of the spine: two case reports.

PubMed

Ozdemir, Seymen; Yaldiz, Can; Ozden, Ferhat; Kacira, Ozlem Kitiki; Kacira, Tibet

2014-12-01

Aneurysmal bone cysts are rare entities which causes expansile and destructive bone lesions characterized by reactive proliferation of connective tissue. They usually grow rapidly with hypervascularity. In clinical practice they can be easily misdiagnosed due to the rare occurance and having no such typical findings as radiologically. Most cases have uncommon pain symptoms, but rarely, if fractures occur, neurological findings can be seen and the surgical treatment, if needed, could be difficult. We will discuss our evaluations to two cases that we experienced in our clinic in this report.

Terra firma-forme dermatosis: a retrospective review of 31 patients.

PubMed

Berk, David R

2012-01-01

Terra firma-forme dermatosis is an idiopathic condition characterized by acquired, dirtlike plaques despite normal hygiene. A diagnosis can be reached by removing lesions with gentle alcohol swabbing. Although Terra firma-forme dermatosis was first described more than 20 years ago and is thought to be not uncommon in clinical practice, it has never been systematically studied. There are few publications about this condition, including no case series of more than six patients. In particular, little is known about the incidence, peak age groups, and most common locations of Terra firma-forme dermatosis. A retrospective review was conducted to identify cases of Terra firma-forme dermatosis in a single-provider practice consisting of 55% pediatric and 45% adult patients. Thirty-one patients with Terra firma-forme dermatosis were identified, including 10 who presented with Terra firma-forme dermatosis as their primary concern. Only two patients were older than 17 years. The median duration of lesions was 4 months. The most common lesion locations were the neck, ankles, and face. Before presenting to the dermatology clinic, three patients had undergone endocrine evaluations, and four had been prescribed topical corticosteroids. Terra firma-forme dermatosis is relatively common and most often occurs in children on the neck or posterior malleolus. This series exemplifies the importance of recognizing Terra firma-forme dermatosis so as to provide rapid relief for patients and avoid unnecessary tests and treatments. © 2011 Wiley Periodicals, Inc.

A Clinician's Guide to the Diagnosis and Management of Gallbladder Volvulus.

PubMed

Pottorf, Brian J; Alfaro, Leonardo; Hollis, Harris W

2013-01-01

Gallbladder volvulus (GV), or torsion of the gallbladder, is an uncommon surgical emergency. This article reviews the world literature related to GV. We examine the history of gallbladder torsion and highlight the critical constellation of presenting signs and symptoms, which guide the acute care physician and surgeon to accurate and timely diagnosis of GV before surgical intervention. A comprehensive review of all published cases of GV was performed using the National Library of Medicine (PubMed) database. Lists of typical symptoms and clinical presentations are provided to allow clinicians to establish an accurate preoperative diagnosis. GV is frequently undiagnosed before surgical intervention. However, clinical presentation and associated radiographic findings can lead to an accurate diagnosis if the clinician is aware of this uncommon condition. When the diagnosis has been established before operative intervention, expeditious laparoscopic cholecystectomy can be performed safely. Delays in diagnosis may mandate open cholecystectomy if laparoscopic extraction is contraindicated because of undesirable sequelae of gallbladder necrosis, specifically perforation, bilious peritonitis, and hemodynamic instability.

Apomictic parthenogenesis in a parasitoid wasp Meteorus pulchricornis, uncommon in the haplodiploid order Hymenoptera.

PubMed

Tsutsui, Y; Maeto, K; Hamaguchi, K; Isaki, Y; Takami, Y; Naito, T; Miura, K

2014-06-01

Although apomixis is the most common form of parthenogenesis in diplodiploid arthropods, it is uncommon in the haplodiploid insect order Hymenoptera. We found a new type of spontaneous apomixis in the Hymenoptera, completely lacking meiosis and the expulsion of polar bodies in egg maturation division, on the thelytokous strain of a parasitoid wasp Meteorus pulchricornis (Wesmael) (Braconidae, Euphorinae) on pest lepidopteran larvae Spodoptera litura (Fabricius) (Noctuidae). The absence of the meiotic process was consistent with a non-segregation pattern in the offspring of heterozygous females, and no positive evidence was obtained for the induction of thelytoky by any bacterial symbionts. We discuss the conditions that enable the occurrence of such rare cases of apomictic thelytoky in the Hymenoptera, suggesting the significance of fixed heterosis caused by hybridization or polyploidization, symbiosis with bacterial agents, and occasional sex. Our finding will encourage further genetic studies on parasitoid wasps to use asexual lines more wisely for biological control.

Putrescine Aminopropyltransferase Is Responsible for Biosynthesis of Spermidine, Spermine, and Multiple Uncommon Polyamines in Osmotic Stress-Tolerant Alfalfa.

PubMed Central

Bagga, S.; Rochford, J.; Klaene, Z.; Kuehn, G. D.; Phillips, G. C.

1997-01-01

The biosynthesis of polyamines from the diamine putrescine is not fully understood in higher plants. A putrescine aminopropyltransferase (PAPT) enzyme activity was characterized in alfalfa (Medicago sativa L.). This enzyme activity was highly specific for putrescine as the initial substrate and did not recognize another common diamine, 1,3-diaminopropane, or higher-molecular-weight polyamines such as spermidine and spermine as alternative initial substrates. The enzyme activity was inhibited by a general inhibitor of aminopropyltransferases, 5[prime]-methylthioadenosine, and by a specific inhibitor of PAPTs, cyclohexylammonium sulfate. The initial substrate specificity and inhibition characteristics of the enzyme activity suggested that it is a classical example of a PAPT. However, this enzyme activity yielded multiple polyamine products, which is uncharacteristic of PAPTs. The major reaction product of PAPT activity in alfalfa was spermidine. The next most abundant products of the enzyme reaction using putrescine as the initial substrate included the tetramines spermine and thermospermine. These two tetramines were distinguished by thin-layer chromatography to be distinct reaction products exhibiting differential rates of formation. In addition, the uncommon polyamines homocaldopentamine and homocaldohexamine were tentatively identified as minor enzymatic reaction products but only in extracts prepared from osmotic stresstolerant alfalfa cultivars. PAPT activity from alfalfa was highest in meristematic shoot tip and floral bud tissues and was not detected in older, nonmeristematic tissues. Product inhibition of the enzyme activity was observed after spermidine was added into the in vitro assay for alfalfa PAPT activity. A biosynthetic pathway is proposed that accounts for the characteristics of this PAPT activity and accommodates a novel scheme by which certain uncommon polyamines are produced in plants. PMID:12223719

Pregnancy-associated retinal diseases and their management.

PubMed

Errera, Marie-Hélène; Kohly, Radha P; da Cruz, Lyndon

2013-01-01

Pregnancy-associated retinal diseases are conditions that may occur uniquely in pregnancy or, more commonly, general conditions that may worsen or alter during pregnancy as a result of hematologic, hormonal, metabolic, cardiovascular, and immunologic changes. Diabetic retinopathy (DR) is by far the most common retinal condition that is altered by pregnancy. However, there are currently no widely accepted, precise clinical guidelines regarding its management during pregnancy. At present it is not possible to predict who will regress and who will progress without treatment. Some of the variation in progression of DR in pregnancy may be a result of well-known risk factors such as hypertension or inadequate glycemic control prior to pregnancy. Other pregnancy-associated retinal diseases are relatively uncommon, and their treatments are poorly characterized. Pre-existing conditions include the white dot syndromes, such as punctuate inner choroidopathy and ocular histoplasmosis syndrome, as well as chorioretinal neovascularization from many other etiologies. Retinal and chorioretinal disorders that can arise during pregnancy include central serous chorioretinopathy and occlusive vasculopathy such as retinal artery occlusion (Purtschers-like retinopathy) and retinal vein occlusion. There remains a small group that appear to be unique to pregnancy, with pre-eclampsia- and eclampsia-associated retinopathy, disseminated intravascular coagulopathy, or amniotic fluid embolism being the best described. In angiogenic retinal diseases outside of pregnancy, the use of anti-vascular endothelial growth factor (anti-VEGF agents) has proven helpful. There are no safety data about the use of anti-VEGF agents during pregnancy, and conventionally the proposed interventions have been laser photocoagulation and systemic or intravitreal injections of steroids. Most of the literature on the treatment of pregnancy associated-chorioretinal neovascularization is anecdotal. Copyright © 2013 Elsevier Inc. All rights reserved.

A Challenge for Cochlear Implantation: Duplicated Internal Auditory Canal.

PubMed

Binnetoğlu, Adem; Bağlam, Tekin; Sarı, Murat; Gündoğdu, Yavuz; Batman, Çağlar

2016-08-01

Duplication of the internal auditory canal is an uncommon, congenital malformation that can be associated with sensorineural hearing loss owing to aplasia/hypoplasia of the vestibulocochlear nerve. Only 14 such cases have been reported to date. We report the case of a 13-month-old girl with bilateral, congenital, sensorineural hearing loss caused by narrow, duplicated internal auditory canals and discuss the challenges encountered in the diagnosis and treatment of this condition.

Salvage liver transplantation for hepatic gas gangrene.

PubMed

Birnbaum, David Jérémie; Grégoire, Emilie; Hardwigsen, Jean; Le Treut, Yves Patrice

2012-09-01

Hepatic gas gangrene is an uncommon situation mainly due to bacterial infection by Clostridium perfringens. It remains a life-threatening condition associated with a high mortality rate. Quick diagnosis and aggressive therapy including liver transplantation should be proposed to improve the outcome. This report describes a rare case of hepatic gas gangrene on native liver, secondary to iatrogenic hepatic artery thrombosis and instrumental biliary tree infection, which was successfully treated by liver transplantation.

A Study of the Effectiveness of the Army’s National Advertising Expenditures. Volume 2. Main Report.

DTIC Science & Technology

1981-08-31

effectiveness of the Army’s national recruitment advertising . N W Ayer’s Marketing Services Department undertook this task in September, 1979, with...Experimentation is clearly preferable whenever one can dramatically vary advertising in sensitive markets under controlled conditions; however, it...Such a feedback relationship is not uncommon, since many commercial and industrial markets routinely set advertising budgets as a percentage of their

Loin Pain Haematuria Syndrome - A Narrative Review of Pain Management Strategies

PubMed Central

2016-01-01

Loin pain haematuria syndrome (LPHS) is an uncommon clinical entity that has divided renal physicians, pain practitioners, and even psychiatrists since its initial description. A relative paucity of data exists regarding the condition, with best practice guidelines lacking amid the existing threads of anecdotal experiences and variable follow-up observations. The aim of this article was to review the cumulative published experience of pain relief strategies for LPHS. PMID:27103962

Transarterial Embolization of a Renal Artery Aneurysm Concomitant With Renal Arteriovenous Fistula.

PubMed

Hongsakul, Keerati; Bannangkoon, Kittipitch; Boonsrirat, Ussanee; Kritpracha, Boonprasit

2018-01-01

Congenital renal artery aneurysm is uncommon. Moreover, renal artery aneurysm concomitant with a congenital renal arteriovenous fistula is extremely rare. Transarterial embolization is the first-line treatment for these conditions. We report a case of a patient with congenital renal artery aneurysm concomitant with a congenital renal arteriovenous fistula of the upper polar left renal artery which was successfully treated by transarterial embolization with coil, glue, and Amplatzer vascular plug.

Fat embolism syndrome: Case report of a clinical conundrum

PubMed Central

Nandi, Roneeta; Venkategowda, Pradeep Marur; Mutkule, Dnyaneshwar; Rao, Surath Manimala

2014-01-01

Fat embolism syndrome is a rare clinical condition associated with trauma, particularly of long bones. FES after fracture of neck of femur or head of humerus is uncommon. We report a case of FES following fracture in neck of femur and head of humerus in a man with history of mitral valve replacement, on long-term oral anticoagulant therapy, with an alleged history of convulsions. Our dilemma in clinical diagnosis is discussed. PMID:25190956

Plasma cell gingivitis - A rare case related to Colocasia (arbi) leaves.

PubMed

Bali, Deepika; Gill, Sanjeet; Bali, Amit

2012-09-01

Plasma cell gingivitis is an uncommon inflammatory condition of uncertain etiology often flavoured chewing gum, spices, foods, candies, or dentifrices. The diagnosis of plasma cell gingivitis is based on comprehensive history taking, clinical examination, and appropriate diagnostic tests. Here we are presenting a rare case of plasma cell gingivitis caused by consumption of colocasia (arbi) leaves. Colocasia is a kind of vegetable, very commonly consumed in the regions of North India.

Osteoblastic and fibroblastic multicentric osteosarcoma

PubMed Central

Cabello, Raúl Romero; Sánchez, Carlos J.; Padilla, Marco A. Duran; De la Garza Navarro, José M.; Feregrino, Raul Romero; Vázquez, Avissai Alcántara; González, Mercedes Hernández; Feregrino, Rodrigo Romero

2011-01-01

Bone sarcomas are uncommon tumours, of which osteosarcoma is the least rare, as well as the third most common malignant tumour in childhood, appearing usually between the 10 and 20 years of age. The case the authors present in this work is of a patient suffering from a long-standing condition encompassing skin and soft tissue lesions. After multiple medical treatments, the patient was diagnosed with squamous osteosarcoma, which required aggressive surgical management and chemotherapy. PMID:22674697

Interventional Radiology in the Management of Budd Chiari Syndrome

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

Beckett, David; Olliff, Simon, E-mail: simon.olliff@uhb.nhs.u

Budd Chiari syndrome is an uncommon condition in the Western world but interventional radiology can contribute significantly to the management of the majority of patients. This review examines the role and technique of interventions including hepatic vein dilatation and stent insertion as well as thrombolysis and TIPS. Liver transplantation and surgical shunt surgery are discussed in relation to radiological interventions. With appropriate selection and technique, surgery is only required in a minority of patients.

Management of Prosthetic Joint Infection.

PubMed

Tande, Aaron J; Gomez-Urena, Eric O; Berbari, Elie F; Osmon, Douglas R

2017-06-01

Although uncommon, prosthetic joint infection is a devastating complication. This challenging condition requires a coordinated management approach to achieve good patient outcomes. This review details the general principles to consider when managing patients with prosthetic joint infection. The different medical/surgical treatment strategies and how to appropriately select a strategy are discussed. The data to support each strategy are presented, along with discussion of antimicrobial strategies in specific situations. Copyright © 2017 Elsevier Inc. All rights reserved.

Chemotherapy-induced pulmonary hypertension: role of alkylating agents.

PubMed

Ranchoux, Benoît; Günther, Sven; Quarck, Rozenn; Chaumais, Marie-Camille; Dorfmüller, Peter; Antigny, Fabrice; Dumas, Sébastien J; Raymond, Nicolas; Lau, Edmund; Savale, Laurent; Jaïs, Xavier; Sitbon, Olivier; Simonneau, Gérald; Stenmark, Kurt; Cohen-Kaminsky, Sylvia; Humbert, Marc; Montani, David; Perros, Frédéric

2015-02-01

Pulmonary veno-occlusive disease (PVOD) is an uncommon form of pulmonary hypertension (PH) characterized by progressive obstruction of small pulmonary veins and a dismal prognosis. Limited case series have reported a possible association between different chemotherapeutic agents and PVOD. We evaluated the relationship between chemotherapeutic agents and PVOD. Cases of chemotherapy-induced PVOD from the French PH network and literature were reviewed. Consequences of chemotherapy exposure on the pulmonary vasculature and hemodynamics were investigated in three different animal models (mouse, rat, and rabbit). Thirty-seven cases of chemotherapy-associated PVOD were identified in the French PH network and systematic literature analysis. Exposure to alkylating agents was observed in 83.8% of cases, mostly represented by cyclophosphamide (43.2%). In three different animal models, cyclophosphamide was able to induce PH on the basis of hemodynamic, morphological, and biological parameters. In these models, histopathological assessment confirmed significant pulmonary venous involvement highly suggestive of PVOD. Together, clinical data and animal models demonstrated a plausible cause-effect relationship between alkylating agents and PVOD. Clinicians should be aware of this uncommon, but severe, pulmonary vascular complication of alkylating agents. Copyright © 2015 American Society for Investigative Pathology. Published by Elsevier Inc. All rights reserved.

Different Factors Affecting Human ANP Amyloid Aggregation and Their Implications in Congestive Heart Failure

PubMed Central

Millucci, Lia; Paccagnini, Eugenio; Ghezzi, Lorenzo; Bernardini, Giulia; Braconi, Daniela; Laschi, Marcella; Consumi, Marco; Spreafico, Adriano; Tanganelli, Piero; Lupetti, Pietro; Magnani, Agnese; Santucci, Annalisa

2011-01-01

Aims Atrial Natriuretic Peptide (ANP)-containing amyloid is frequently found in the elderly heart. No data exist regarding ANP aggregation process and its link to pathologies. Our aims were: i) to experimentally prove the presumptive association of Congestive Heart Failure (CHF) and Isolated Atrial Amyloidosis (IAA); ii) to characterize ANP aggregation, thereby elucidating IAA implication in the CHF pathogenesis. Methods and Results A significant prevalence (85%) of IAA was immunohistochemically proven ex vivo in biopsies from CHF patients. We investigated in vitro (using Congo Red, Thioflavin T, SDS-PAGE, transmission electron microscopy, infrared spectroscopy) ANP fibrillogenesis, starting from α-ANP as well as the ability of dimeric β-ANP to promote amyloid formation. Different conditions were adopted, including those reproducing β-ANP prevalence in CHF. Our results defined the uncommon rapidity of α-ANP self-assembly at acidic pH supporting the hypothesis that such aggregates constitute the onset of a fibrillization process subsequently proceeding at physiological pH. Interestingly, CHF-like conditions induced the production of the most stable and time-resistant ANP fibrils suggesting that CHF affected people may be prone to develop IAA. Conclusions We established a link between IAA and CHF by ex vivo examination and assessed that β-ANP is, in vitro, the seed of ANP fibrils. Our results indicate that β-ANP plays a crucial role in ANP amyloid deposition under physiopathological CHF conditions. Overall, our findings indicate that early IAA-related ANP deposition may occur in CHF and suggest that these latter patients should be monitored for the development of cardiac amyloidosis. PMID:21814559

Cystic Neutrophilic Granulomatous Mastitis: Further Characterization of a Distinctive Histopathologic Entity Not Always Demonstrably Attributable to Corynebacterium Infection.

PubMed

D'Alfonso, Timothy M; Moo, Tracy-Ann; Arleo, Elizabeth K; Cheng, Esther; Antonio, Lilian B; Hoda, Syed A

2015-10-01

Granulomatous lobular mastitis (GLM) is an uncommon condition that typically occurs in parous, reproductive-aged women and can simulate malignancy on the basis of clinical and imaging features. A distinctive histologic pattern termed cystic neutrophilic granulomatous mastitis (CNGM) is seen in some cases of GLM and has been associated with Corynebacterium infection. We sought to further characterize the clinical, imaging, and histopathologic features of CNGM by studying 12 cases and attempted to establish the relationship of this disease with Corynebacterium infection. Patients were women ranging in age from 25 to 49 years (median: 34 y), and all presented with a palpable mass that was painful in half of the cases. In 2 of 9 cases, imaging was highly suspicious for malignancy (BI-RADS 5). CNGM was characterized by lobulocentric granulomas with mixed inflammation and clear vacuoles lined by neutrophils within granulomas. Gram-positive bacilli were identified in 5/12 cases. In 4 patients, the disease process worsened after the diagnostic core biopsy, with the development of a draining sinus in 2 cases. No growth of bacteria was seen in any microbial cultures. No bacterial DNA was identified by 16S rDNA polymerase chain reaction for 1 case that showed gram-positive bacilli on histology. Patients were treated with variable combinations of surgery, antibiotics, and steroids. The time to significant resolution of symptoms ranged from 2 weeks to 6 months. Similar to other forms of GLM, CNGM can mimic malignancy clinically and on imaging. When encountered in a needle core biopsy sample, recognition of the characteristic histologic pattern and its possible association with Corynebacterium infection can help guide treatment.

Immune system cells in healthy ferrets: an immunohistochemical study.

PubMed

Vidaña, B; Majó, N; Pérez, M; Montoya, M; Martorell, J; Martínez, J

2014-07-01

The ferret has emerged as an excellent animal model to characterize several physiologic and pathologic conditions. The distribution and characterization of different types of immune system cells were studied in healthy ferret tissues. Eight primary antibodies were tested for immunohistochemistry in formalin-fixed tissues: anti-CD3, anti-CD79α, anti-CD20, anti-HLA-DR, anti-lysozyme, anti-CD163, anti-SWC3, and anti-Mac387. The anti-CD3 antibody labeled T cells mainly in interfollicular and paracortical areas of lymph nodes, cortex and thymic medulla, and periarteriolar lymphoid sheaths in the spleen. The anti-CD79α and anti-CD20 antibodies immunolabeled B cells located in lymphoid follicles at lymph nodes, spleen, and Peyer patches. The CD79α and CD20 antibodies also labeled cells with nonlymphoid morphology in atypical B-cell locations. The anti-HLA-DR antibody labeled macrophages, some populations of B and T lymphocytes, and different populations of dendritic cells in lymph nodes, Peyer patches, spleen, and thymus. The anti-lysozyme antibody immunolabeled macrophages in the liver, lymph nodes, spleen, and thymus. The Mac-387, CD163, and SWC3 antibodies did not show any positive reaction in formalin-fixed or frozen tissues. To elucidate the origin of the uncommon CD79α/CD20 positive cells, a double immunohistochemistry was carried out using the anti-HLA-DR + the anti-CD79α, the anti-HLA-DR + the anti-CD20, and the anti-lysozyme + the anti-CD79α antibodies. Double labeling was mainly observed when the anti-HLA-DR + the anti-CD79α antibodies were combined. The immunohistologic characterization and distribution of these immune system cells in healthy ferret tissues should be of value in future comparative studies of diseases in ferrets. © The Author(s) 2013.

Super-Refractory Status Epilepticus: Report of a Case and Review of the Literature.

PubMed

Lapenta, Leonardo; Frisullo, Giovanni; Vollono, Catello; Brunetti, Valerio; Giannantoni, Nadia Mariagrazia; Sandroni, Claudio; Di Lella, Giuseppe; Della Marca, Giacomo

2015-10-01

Super-refractory status epilepticus (SE; ie, SE continuing or recurring despite 24 hours of general anesthesia) is a severe condition with high percentage of mortality and morbidity. Usually, this condition occurs because of serious brain damage; nevertheless, some patients develop super-refractory SE without identifiable etiology. Although not uncommonly encountered in neurointensive care, scientific data on this condition are still lacking in terms of treatment and prognosis. Herein, we report a case of super-refractory SE with recovery after 50 days, despite electroencephalographic (EEG) and magnetic resonance imaging (MRI) signs traditionally related to poor prognosis. A review of the literature on super-refractory SE is also presented. © EEG and Clinical Neuroscience Society (ECNS) 2014.

Setting the vision: applied patient-reported outcomes and smart, connected digital healthcare systems to improve patient-centered outcomes prediction in critical illness.

PubMed

Wysham, Nicholas G; Abernethy, Amy P; Cox, Christopher E

2014-10-01

Prediction models in critical illness are generally limited to short-term mortality and uncommonly include patient-centered outcomes. Current outcome prediction tools are also insensitive to individual context or evolution in healthcare practice, potentially limiting their value over time. Improved prognostication of patient-centered outcomes in critical illness could enhance decision-making quality in the ICU. Patient-reported outcomes have emerged as precise methodological measures of patient-centered variables and have been successfully employed using diverse platforms and technologies, enhancing the value of research in critical illness survivorship and in direct patient care. The learning health system is an emerging ideal characterized by integration of multiple data sources into a smart and interconnected health information technology infrastructure with the goal of rapidly optimizing patient care. We propose a vision of a smart, interconnected learning health system with integrated electronic patient-reported outcomes to optimize patient-centered care, including critical care outcome prediction. A learning health system infrastructure integrating electronic patient-reported outcomes may aid in the management of critical illness-associated conditions and yield tools to improve prognostication of patient-centered outcomes in critical illness.

Ribbing disease: Uncommon cause of a common symptom

PubMed Central

Damle, Nishikant Avinash; Patnecha, Manish; Kumar, Praveen; Gadodia, Ankur; Subbarao, Kiran; Bal, Chandrasekhar

2011-01-01

Ribbing disease is a rare form of sclerosing dysplasia characterized by benign endosteal and periosteal bone growth confined to the diaphyses of the long bones, usually the tibiae and femora. It occurs after puberty and is more commonly seen in women. The most common presenting symptom is pain that is usually self-limited; however, progression is known. The etiology and optimal treatment for the disease are as yet undefined. We present here the case of a 31-year-old woman with clinical, radiological and bone scan manifestations of Ribbing disease corroborated by bone biopsy. Radiographs demonstrated cortical thickening of the diaphyses of both tibiae. 99mTc-methylene diphosphonate bone scan revealed intense irregular uptake in diaphyseal region of both tibiae. Magnetic resonance imaging showed cortical thickening with bone marrow edema in bilateral tibial diaphysis with minimal adjacent soft tissue edema. Bone biopsy revealed predominantly dense lamellar bone with irregular sized and spaced haversian systems. Serum and urine markers of bone metabolism were within normal limits. The patient was treated with analgesics, and had partial relief from pain. Medullary rimming is the next treatment option in case pain progresses. This report emphasizes the role of bone scan in the diagnosis of this rare condition. PMID:21969779

Clinical Relevance and Cost-Savings of Levocarnitine Versus Ammonul in the Management Of Hyperammonemia in a Cancer Patient: The Impact of a Clinical Pharmacist.

PubMed

Anyanwu, Chukwuma; Ezeudu, Chinonso; Le, Hoa; Egwim, Oliver

2018-01-01

Hyperammonemia, a relatively uncommon condition characterized by elevated ammonia levels in the blood, presents with varied physiological etiologies that may send patients to the intensive care unit (ICU) with encephalopathy. An immediate decrease in ammonia levels is necessary to avert neurological damage. However, due to the multifaceted nature of hyperammonemia, a definite determination of etiology is not always possible. This case report examines the clinical and economic impact of a pharmacist in managing acute hyperammonemia of unknown etiology in a 62-year-old Hispanic man who had recently been diagnosed with metastatic medullary thyroid cancer and associated hypercalcemia. The patient was treated with levocarnitine after the failure of several other treatments. Levocarnitine therapy controlled the patient's ammonia levels, which had progressively reached extremely high levels. His mental status, which had deteriorated severely, returned to baseline. This case illustrates the importance of having a clinical pharmacist in the ICU. The pharmacist's expertise and knowledge helped avert adverse clinical consequences and promoted considerable cost-savings. This case also shows that levocarnitine may be an effective treatment for certain cases of hyperammonia-induced encephalopathy with unknown etiology.

Florid Cemento-Osseous Dysplasia Simultaneous the Chronic Suppurative Osteomyelitis in Mandible.

PubMed

Cavalcante, Mateus Barros; de Oliveira Lima, Amanda Laísa; Júnior, Marcus Antônio Brêda; Santos, Milkle Bruno Pessoa

2016-11-01

The florid cemento-osseous dysplasia is an uncommon condition nonneoplastic, of unknown cause with higher prevalence in melanodermic women, limited the maxillary bones, is characterized by the presence of dispersed and diffuse radiopaque calcifications, constituted of bone and dense cemento; however, when the bone is infected it induces the suppuration and formation of osseous sequestra, thus resulting in an osteomyelitis frame. The patient was attended in a Dental Specialties Center in the state of Alagoas, Brazil, presenting on clinical examination edema and extra oral fistula with pus drainage in hemiface submandibular of the right side. Radiographically it was possible to observe area of sclerosis and osseous sequestra involving the right side region of the mandible body, and it increases zones of the bone density. In association with clinical data and complementary diagnosis examinations, the option of treatment adopted was the complete removal of the bone fragment, followed by adaptation and plate fixation and titanium screws to reduce the risk of mandibular fracture. The aim of the present paper was to relate a clinical patient of florid cemento-osseous dysplasia simultaneous the chronic suppurative osteomyelitis, highlighting their clinical, radiographic, and histological characteristics, as well as their diagnosis and treatment.

Hydrothermal crystal growth, piezoelectricity, and triboluminescence of KNaNbOF{sub 5}

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

Chang, Kelvin B.; Edwards, Bryce W.; Frazer, Laszlo

Single crystals of the noncentrosymmetric KNaNbOF{sub 5} polymorph were grown for piezoelectric and triboluminescent measurements. Piezoelectric measurements yielded a d{sub 33} value of ±6.3 pCN{sup −1} and an effective electromechanical coupling coefficient of up to 0.1565 in the frequency range 1960–2080 kHz. Crystals of KNaNbOF{sub 5} were found to exhibit a strong triboluminscence effect visible to the naked eye as blue sparks when crystals are crushed. This triboluminescence effect is uncommon in that it is likely independent from both the piezoelectric effect and atmospheric electrical discharge. Instead, triboluminescence may originate from crystal defects or be related to an electroluminescence effect.more » - Graphical abstract: An optical emission visible to the naked eye as blue sparks is observed when KNaNbOF{sub 5} single crystals are fractured. - Highlights: • Single crystals of KNaNbOF{sub 5} were grown under hydrothermal conditions. • Piezoelectric and triboluminescent properties were characterized. • Piezoelectric measurements yielded a d{sub 33} value of ±pCN{sup −1}. • KNaNbOF{sub 5} exhibits strong triboluminscence visible to the naked eye as blue sparks.« less

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

Hyperacute Simultaneous Cardiocerebral Infarction: Rescuing the Brain or the Heart First?

PubMed

Kijpaisalratana, Naruchorn; Chutinet, Aurauma; Suwanwela, Nijasri C

2017-01-01

Concurrent acute ischemic stroke and acute myocardial infarction is an uncommon medical emergency condition. The challenge for the physicians regarding the management of this situation is paramount since early management of one condition will inevitably delay the other. We present two illustrative cases of "hyperacute simultaneous cardiocerebral infarction" who presented with simultaneous cardiocerebral infarction and arrived at the hospital within the thrombolytic therapeutic window for acute ischemic stroke of 4.5 h. We propose an algorithm for managing the patient with hyperacute simultaneous cardiocerebral infarction based on hemodynamic status and suggest close cardiac monitoring based on the site of cerebral infarction.

Idiopathic masseter muscle hypertrophy.

PubMed

Kebede, Biruktawit; Megersa, Shimalis

2011-11-01

Benign Masseteric Hypertrophy is a relatively uncommon condition that can occur unilaterally or bilaterally. Pain may be a symptom, but most frequently a clinician is consulted for cosmetic reasons. In some cases prominent Exostoses at the angle of the mandible are noted. Although it is tempting to point to Malocclusion, Bruxism, clenching, or Temporomandibular joint disorders, the etiology in the majority of cases is unclear. Diagnosis is based on awareness of the condition, clinical and radiographic findings, and exclusion of more serious Pathology such as Benign and Malignant Parotid Disease, Rhabdomyoma, and Lymphangioma. Treatment usually involves resection of a portion of the Masseter muscle with or without the underlying bone.

Surgical management of sentinel lymph node biopsy outside major nodal basin in patients with cutaneous melanoma.

PubMed

Caracò, Corrado; Marone, Ugo; Di Monta, Gianluca; Aloj, Luigi; Caracò, Corradina; Anniciello, Annamaria; Lastoria, Secondo; Botti, Gerardo; Mozzillo, Nicola

2014-01-01

To assess the incidence of nonmajor lymphatic basin sentinel nodes in patients with cutaneous melanoma in order to propose a correct nomenclature and inform appropriate surgical management. This was a retrospective review of 1,045 consecutive patients with cutaneous melanoma who underwent sentinel lymph node biopsy and dynamic lymphoscintigraphy to identify sentinel node site. Nonmajor drainage sites were classified as uncommon (located in a minor lymphatic basin along the lymphatic drainage to a major classical nodal basin) or interval (located anywhere along the lymphatics between the primary tumor site and the nearest lymphatic basin) sentinel nodes. Nonclassical sentinel nodes were identified in 32 patients (3.0 %). Uncommon sentinel nodes were identified in 3.2 % (n = 17) of trunk melanoma primary disease and in 1.5 % (n = 7) of upper and lower extremity sites. Interval sentinel nodes were identified in 1.3 % (n = 7) of trunk primary lesions, with none from upper and lower extremities melanomas. The incidence of tumor-positive sentinel nodes was 24.1 % (245 of 1,013) in classical sites and 12.5 % (4 of 32) in uncommon/interval sites. The definition of uncommon and interval sentinel nodes allows the identification of different lymphatic pathways and inform appropriate surgical treatment. Wider experience with uncommon/interval sentinel nodes will better clarify the clinical implications and surgical management to be adopted in the management of uncommon and interval sentinel node sites.

Ahmad al-Damanhūrī (1689-1778) and the utility of expertise in early modern Ottoman Egypt.

PubMed

Murphy, Jane H

2010-01-01

Eighteenth-century Arabic manuscripts in the "uncommon sciences"--a range of mathematical, astronomical, astrological, medical, and divinatory practices-number in the thousands. In light of the economic and social upheaval over the eighteenth century this sustained production must be understood from perspectives of both intellectual and social history. Ahmad al-Damanhūrī's writings and his rise from rural orphan to head of al-Azhar Mosque suggest the role and value of expertise in the uncommon sciences, particularly as these fields brought religious scholars and ruling military elites into close relations. Precisely because the uncommon sciences bridged these two social classes, this expertise was important for individuals' social and intellectual formation. Recognizing the significance of the uncommon sciences for the history of this period offers a new reading of the work of the chronicler 'Abd al-Rahmān al-Jabartī, who used language and exemplars from the uncommon sciences to reflect on the proper and just relationship between expertise (embodied by the religious scholarly class) and the emerging state.

Unusual presentation of gastric perforation in a neonate: subcutaneous emphysema and scrotal pneumatocele.

PubMed

Erdogan, Derya

2013-04-01

Gastric perforation in neonates is an uncommon condition. A four-day-male neonate was referred with respiratory distress, abdominal distention, right scrotal swelling and extensive emphysema of the abdominal wall. Abdominal X-ray findings showed bilateral sub-diaphragmatic free air, right scrotal pneumatocele and subcutaneous emphysema of the abdominal wall. During the operation, pre-pyloric perforation was determined. Primary repair by single layer suture was performed and postoperative period was uneventful.

Cystic chondromalacia of the auricle treated with dual-plane excision with intracartilaginous dissection.

PubMed

Zoccali, Giovanni; Pajand, Reza; Vrentzos, Nikolaos; Giuliani, Maurizio

2014-09-01

Cystic chondromalacia of the auricle is an uncommon condition in which a degenerative process occurs within the cartilage. The disorder affects young and middle-aged people. Clinically, it manifests as a painless, fluctuant swelling that frequently relapses despite various therapeutic approaches. In this article we report a typical case of cystic chondromalacia of the auricle that was successfully treated by surgery-specifically, dual-plane dissection-and we briefly review the literature.

Aerophagia due to abdomino-phrenic dyssynergia in a 2-year-old child.

PubMed

Ercoli, Pablo; García, Belinda; Del Campo, Enrique; Pinillos, Sergio

2018-05-01

We report the case of a previously healthy 2-year-old child who presented with significant abdominal distension. After several interventions that proved ineffective, pathologic aerophagia was eventually diagnosed. In pediatrics, pathologic aerophagia is an uncommon disorder that almost exclusively affects children with an underlying neurological condition. It may lead to multiple diagnostic tests and unnecessary aggressive therapies. A recent case report associated aerophagia with a novel concept of abdomino-phrenic dyssynergia.

Plasma cell gingivitis - A rare case related to Colocasia (arbi) leaves

PubMed Central

Bali, Deepika; Gill, Sanjeet; Bali, Amit

2012-01-01

Plasma cell gingivitis is an uncommon inflammatory condition of uncertain etiology often flavoured chewing gum, spices, foods, candies, or dentifrices. The diagnosis of plasma cell gingivitis is based on comprehensive history taking, clinical examination, and appropriate diagnostic tests. Here we are presenting a rare case of plasma cell gingivitis caused by consumption of colocasia (arbi) leaves. Colocasia is a kind of vegetable, very commonly consumed in the regions of North India. PMID:23230358

Laugier–Hunziker syndrome: a report of three cases and literature review

PubMed Central

Wang, Wen-Mei; Wang, Xiang; Duan, Ning; Jiang, Hong-Liu; Huang, Xiao-Feng

2012-01-01

Laugier–Hunziker syndrome (LHS) is an acquired pigmentary condition affecting lips, oral mucosa and acral area, frequently associated with longitudinal melanonychia. There is neither malignant predisposition nor underlying systemic abnormality associated with LHS. Herein, we present three uncommon cases of LHS with possibly new feature of nail pigmentation, which were diagnosed during the past 2 years. We also review the clinical and histological findings, differential diagnosis, and treatment of the syndrome in published literature. PMID:23174847

Syndrome in question: Gorlin-Goltz syndrome.

PubMed

Ribeiro, Pauline Lyrio; Souza, João Basílio de; Abreu, Karina Demoner de; Brezinscki, Marisa Simon; Pignaton, Christine Chambo

2016-01-01

The Nevoid Basal Cell Carcinoma Syndrome (NBCCS) is an uncommon disorder caused by a mutation in Patched, tumor suppressor gene. It is mainly characterized by numerous early onset basal cell carcinomas, odontogenic cysts of jaw and skeletal abnormalities. Due to the wide clinical spectrum, treatment and management of its modalities are not standardized and should be individualized and monitored by a multidisciplinary team. We report a typical case in a 30-year-old man with multiple basal cell carcinomas, keratotic pits of palmar creases and bifid ribs, with a history of several corrective surgeries for keratocystic odontogenic tumors, among other lesions characteristic of the syndrome.

Runaway pacemaker: a forgotten phenomenon?

PubMed

Ortega, Daniel F; Sammartino, M Victoria; Pellegrino, Graciela M M; Barja, Luis D; Albina, Gaston; Segura, Eliseo V; Balado, Roberto; Laiño, Ruben; Giniger, Alberto G

2005-11-01

Runaway is an uncommon pacemaker dysfunction, characterized by fast and erratic spikes at non-physiological rates. This infrequent but potentially lethal failure mode may be related to low battery voltage. Four single chamber pacemaker patients were analyzed (Medtronic Minix ST 8330, Minneapolis, MN, had been implanted in two patients and two CPI Triumph VR 1124, St Paul, MN, in the other two). They had been admitted because of presyncopal episodes. Typical high rate stimuli at 2000 ppm alternating with pacing at 60-65 ppm were recorded in all ECGs. Lead system tests were normal. The pulse generators had to be replaced.

Limnodrilus sulphurensis n. sp., from a sulfur cave in Colorado, USA, with notes on the morphologically similar L. profundicola (Clitellata, Naididae, Tubificinae).

PubMed

Fend, Steven V; Liu, Yingkui; Steinmann, David; Giere, Olav; Barton, Hazel A; Luiszer, Fred; Erséus, Christer

2016-01-18

A new species of the tubificine genus Limnodrilus is described and COI barcoded from Sulphur Cave and associated springs in Colorado, USA. The habitats are characterized by high sulfide concentrations. The new species, L. sulphurensis, is distinguished from all congeners by the elongate, nearly parallel teeth of chaetae in its anterior segments. It has a penis sheath resembling that of L. profundicola; consequently, museum specimens and new collections are examined here to resolve some of the taxonomic confusion surrounding that widespread, but uncommon species.

The use of antigravity suits in the treatment of idiopathic orthostatic hypotension

NASA Technical Reports Server (NTRS)

Landmark, K.; Kravik, S.

1980-01-01

Idiopathic orthostatic hypotension is an uncommon disease characterized by a drop in blood pressure when going from a recumbent to a standing position. Treatment by medication generally produces poor results. Three patients at the Royal Hospital in Oslo were treated with antigravity suits and all were able to maintain adequate blood pressures in the standing position. One patient improved dramatically and was able to take short walks while wearing the suit. The two other patients, however, felt that wearing the suits eventually became uncomfortable. This treatment represents a useful treatment alternative for intractable cases.

Maternal rhabdomyolysis and twin fetal death associated with gestational diabetes insipidus.

PubMed

Price, Joan T; Schwartz, Nadav

2013-08-01

Gestational diabetes insipidus is a rare, transient complication of pregnancy typically characterized by polyuria and polydipsia that may lead to mild electrolyte abnormalities. More severe sequelae of gestational diabetes insipidus are uncommon. We present a case of a 25-year-old woman at 23 weeks of gestation in a dichorionic-diamniotic twin pregnancy who developed severe symptomatic gestational diabetes insipidus complicated by rhabdomyolysis and death of both fetuses. Maternal rhabdomyolysis caused by gestational diabetes insipidus is extremely rare. Early recognition and treatment of gestational diabetes insipidus is necessary to prevent maternal and fetal morbidity and mortality.

Disseminated cutaneous sporotrichosis in patient with alcoholism.

PubMed

Benvegnú, Ana Maria; Stramari, Juliana; Dallazem, Lia Natália Diehl; Chemello, Raíssa Massaia Londero; Beber, André Avelino Costa

2017-01-01

Sporotrichosis is the most prevalent subcutaneous mycosis and is characterized by a subacute or chronic development of a cutaneous or subcutaneous nodular lesion. It is caused by the dimorphic fungus Sporothrix spp, which may manifest in different clinical forms. The disseminated cutaneous form is uncommon and is more likely to occur in immunocompromised patients. We report a 47-year-old male patient with multiple cutaneous and subcutaneous nodules. The patient was diagnosed with disseminated cutaneous sporotrichosis based on the isolation and identification of Sporothrix spp. The patient was treated with potassium iodide, which resulted in clinical improvement of the lesions.

Congenital yellow nail syndrome: a case report and its relationship to nonimmune fetal hydrops.

PubMed

Nanda, Arti; Al-Essa, Fahad H; El-Shafei, Wael M; Alsaleh, Qasem A

2010-01-01

Yellow nail syndrome (YNS) is an uncommon disorder characterized by a triad of nail dystrophy, lymphedema, and pleural effusion. It is rare in children and congenital occurrence of YNS has been very rarely described. We report a 2-year-old Arab boy having congenital yellow nail syndrome with mild facial dysmorphism and bilateral conjunctival pigmentation born to consanguineous parents. One of his older siblings had died of nonimmune fetal hydrops (NIFH). The case supports the genetic basis of yellow nail syndrome with a possible relationship to nonimmune fetal hydrops. © 2010 Wiley Periodicals, Inc.

Postoperative pyoderma gangrenosum: A rare complication after appendectomy

PubMed Central

Faghihi, G; Abtahi-Naeini, B; Nikyar, Z; Jamshidi, K; Bahrami, A

2015-01-01

Pyoderma gangrenosum (PG) is an uncommon inflammatory ulcerative skin disease. It is characterized by painful progressive necrosis of the wound margins. Rarely, postoperative pyoderma gangrenosum (PPG) manifests as a severe disturbance of wound healing following surgical interventions. Only rare cases of this complication have been reported after appendectomy. We report a case of PPG in a 29-year-old female after appendectomy. She was successfully treated with oral prednisolone. Postoperative pyoderma gangrenosum should be kept in mind in the differential diagnosis of any postoperative delayed wound healing, because this disease is simply distinguished from a postoperative wound. PMID:25511218

SVC obstruction and stridor relieved by nasogastric tube insertion

PubMed Central

Molena, Emma J.; Krishnamoorthy, Ashwin; Praveen, Coimbatore

2016-01-01

Achalasia is an idiopathic motility disorder of the oesophagus of increasing incidence. It is characterized by aperistalsis of the lower oesophagus and failure of relaxation of the lower oesophageal sphincter. Patients classically present with chronic symptoms of dysphagia, chest pain, weight loss and regurgitation, and they commonly suffer pulmonary complications such as recurrent microaspiration of static, retained food contents of the upper oesophagus. However, it has also been described, uncommonly, to present with megaoesophagus and secondary tracheal compression. We present a case of megaoesophagus secondary to achalasia which presented with stridor and signs of acute superior vena caval obstruction. PMID:26933001

Uncommon opportunistic fungal infections of oral cavity: A review

PubMed Central

Deepa, AG; Nair, Bindu J; Sivakumar, TT; Joseph, Anna P

2014-01-01

The majority of opportunistic oral mucosal fungal infections are due to Candida albicans and Aspergillus fumigatus species. Mucor and Cryptococcus also have a major role in causing oral infections, whereas Geotrichum, Fusarium, Rhodotorula, Saccharomyces and Penicillium marneffei are uncommon pathogens in the oral cavity. The broad spectrum of clinical presentation includes pseudo-membranes, abscesses, ulcers, pustules and extensive tissue necrosis involving bone. This review discusses various uncommon opportunistic fungal infections affecting the oral cavity including their morphology, clinical features and diagnostic methods. PMID:25328305

On the nosology and pathogenesis of Wolf-Hirschhorn syndrome: genotype-phenotype correlation analysis of 80 patients and literature review.

PubMed

Zollino, Marcella; Murdolo, Marina; Marangi, Giuseppe; Pecile, Vanna; Galasso, Cinzia; Mazzanti, Laura; Neri, Giovanni

2008-11-15

Based on genotype-phenotype correlation analysis of 80 Wolf-Hirschhorn syndrome (WHS) patients, as well as on review of relevant literature, we add further insights to the following aspects of WHS: (1) clinical delineation and phenotypic categories; (2) characterization of the basic genomic defect, mechanisms of origin and familiarity; (3) identification of prognostic factors for mental retardation; (4) chromosome mapping of the distinctive clinical signs, in an effort to identify pathogenic genes. Clinically, we consider that minimal diagnostic criteria for WHS, defining a "core" phenotype, are typical facial appearance, mental retardation, growth delay and seizures (or EEG anomalies). Three different categories of the WHS phenotype were defined, generally correlating with the extent of the 4p deletion. The first one comprises a small deletion not exceeding 3.5 Mb, that is usually associated with a mild phenotype, lacking major malformations. This category is likely under-diagnosed. The second and by far the more frequent category is identified by large deletions, averaging between 5 and 18 Mb, and causes the widely recognizable WHS phenotype. The third clinical category results from a very large deletion exceeding 22-25 Mb causing a severe phenotype, that can hardly be defined as typical WHS. Genetically, de novo chromosome abnormalities in WHS include pure deletions but also complex rearrangements, mainly unbalanced translocations. With the exception of t(4p;8p), WHS-associated chromosome abnormalities are neither mediated by segmental duplications, nor associated with a parental inversion polymorphism on 4p16.3. Factors involved in prediction of prognosis include the extent of the deletion, the occurrence of complex chromosome anomalies, and the severity of seizures. We found that the core phenotype maps within the terminal 1.9 Mb region of chromosome 4p. Therefore, WHSCR-2 should be considered the critical region for this condition. We also confirmed that the pathogenesis of WHS is multigenic. Specific and independent chromosome regions were characterized for growth delay and seizures, as well as for the additional clinical signs that characterize this condition. With the exception of parental balanced translocations, familial recurrence is uncommon.

[Clinical and molecular study in a family with cleidocranial dysplasia].

PubMed

Callea, Michele; Fattori, Fabiana; Bertini, Enrico S; Yavuz, Izzet; Bellacchio, Emanuele; Avendaño, Andrea; Araque, Dianora; Lacruz-Rengel, María A; Da Silva, Gloria; Cammarata-Scalisi, Francisco

2017-12-01

Cleidocranial dysplasia is an uncommon bone dysplasia with an autosomal dominant inheritance pattern characterized by short stature, large fontanels, midface hypoplasia, absence or hypoplasia of clavicles and orodental alterations. This is Estudio clínico y molecular en una familia con displasia cleidocraneal Clinical and molecular study in a family with cleidocranial dysplasia produced by mutations in the RUNX2 gene located at 6p21.1. We report two male adolescents (cousins), with cleidocranial dysplasia who presented a heterozygous missense mutation (c.674G> A, p.R225Q) in the RUNX2 gene, characterized by severe phenotype, such as absent clavicles, but with variation in the delayed fontanel closure, dental abnormalities (anomalies in shape and number) and scoliosis, thus demonstrating intrafamilial variation in these patients with the same genotype. Sociedad Argentina de Pediatría.

Uncommon BRAF mutations in the follicular variant of thyroid papillary carcinoma: New insights.

PubMed

Rossi, Esther Diana; Martini, Maurizio; Bizzarro, Tommaso; Capodimonti, Sara; Cenci, Tonia; Lombardi, Celestino Pio; Pontecorvi, Alfredo; Fadda, Guido; Larocca, Luigi Maria

2015-10-01

Mutational analysis is reshaping the practice of fine-needle aspiration cytology for the diagnosis of thyroid nodules. The v-Raf murine sarcoma viral oncogene homolog B1 (BRAF) valine (V) to glutamic acid (E) substitution at codon 600 (BRAF(V600E)) is the most effective diagnostic/prognostic marker and is used mainly for papillary thyroid carcinomas (PTCs). Although BRAF(V600E) represents 95% of all BRAF mutations, uncommon BRAF mutations have been identified in thyroid carcinomas. For the current study, the authors evaluated morphologic (plump pink cells and sickle-shaped nuclei) anti-BRAF(V600E) antibody (VE1) immunocytochemical and molecular findings of BRAF mutations in PTCs and in the follicular variant of PTC (FVPC). Between January 2013 and June 2014, there were 150 cytologic samples with surgical follow-up at the authors' institution. BRAF mutations, which were identified using liquid-based cytology, were classified into wild-type BRAF, BRAF(V600E), and uncommon BRAF mutations. All clinicopathologic correlations between BRAF and FVPCs were analyzed. Forty-four of 150 samples were identified as benign histologic lesions, and the authors focused on the 106 cytologic samples from patients who had malignant outcomes (60 PTCs and 46 FVPCs). The series included 16 follicular neoplasms, 36 samples diagnosed as suspicious of malignancy, and 54 samples diagnosed as positive for malignancy. The BRAF(V600E) mutation was detected in 17.4% of FVPCs and in 66.6% of PTCs, whereas uncommon BRAF mutations were detected only in FVPCs. Plump pink cells and VE1 expression were not identified in samples that had uncommon BRAF mutations. VE1 immunocytochemistry yielded positive results in all 36 samples that had the BRAF(V600E) mutation. Uncommon BRAF mutations were observed only in FVPCs and were linked to less aggressive behavior. Negative/weak VE1 expression was observed in both wild-type and uncommon BRAF mutations. The current investigation did not reveal any plump cells or morphologic BRAF findings in samples that had uncommon BRAF mutations. In the authors' experience, BRAF mutations detected by DNA methods were more accurate in identifying FVPCs. © 2015 American Cancer Society.

A Clinician’s Guide to the Diagnosis and Management of Gallbladder Volvulus

PubMed Central

Pottorf, Brian J; Alfaro, Leonardo; Hollis, Harris W

2013-01-01

Introduction: Gallbladder volvulus (GV), or torsion of the gallbladder, is an uncommon surgical emergency. This article reviews the world literature related to GV. We examine the history of gallbladder torsion and highlight the critical constellation of presenting signs and symptoms, which guide the acute care physician and surgeon to accurate and timely diagnosis of GV before surgical intervention. Methods: A comprehensive review of all published cases of GV was performed using the National Library of Medicine (PubMed) database. Results: Lists of typical symptoms and clinical presentations are provided to allow clinicians to establish an accurate preoperative diagnosis. Conclusion: GV is frequently undiagnosed before surgical intervention. However, clinical presentation and associated radiographic findings can lead to an accurate diagnosis if the clinician is aware of this uncommon condition. When the diagnosis has been established before operative intervention, expeditious laparoscopic cholecystectomy can be performed safely. Delays in diagnosis may mandate open cholecystectomy if laparoscopic extraction is contraindicated because of undesirable sequelae of gallbladder necrosis, specifically perforation, bilious peritonitis, and hemodynamic instability. PMID:23704849

Exogenous lipoid pneumonia – a case report of a fire-eater

PubMed Central

Pielaszkiewicz-Wydra, Magdalena; Homola-Piekarska, Bożena; Szcześniak, Ewa; Ciołek-Zdun, Monika; Fall, Andrzej

2012-01-01

Summary Background: Exogenous lipoid pneumonia is an uncommon condition caused by inhalation or aspiration of a fatty substance. It usually presents as chronic respiratory illness mimicking interstitial lung diseases. Acute exogenous lipoid pneumonia is uncommon and typically is caused by an episode of aspiration of a large quantity of a petroleum-based product. Radiological findings vary and may imitate many other diseases. Case Report: We present a rare case of acute exogenous lipoid pneumonia in a fire-eater who aspirated liquid paraffin during his flame-blowing show (fire-eater’s lung). He was admitted to the hospital with productive cough, fever, hemoptysis, chest pain and dyspnea. Diagnosis was made on the basis of history of exposure to fatty substance, characteristic findings in CT examination and presence of lipid-laden macrophages in bronchoalveolar lavage fluid. Conclusions: Acute exogenous lipoid pneumonia is a very rare disease that typically occurs in fire-eaters and is called a fire-eater’s lung. The diagnosis is made on the basis of typical history and radiological, as well as histopathological findings. PMID:23269939

Rapidly Progressive Osteoarthritis: a Review of the Clinical and Radiologic Presentation.

PubMed

Flemming, Donald J; Gustas-French, Cristy N

2017-07-01

The purpose of this paper is to review the distinct clinical and radiographic features that may lead to prompt diagnosis of rapidly progressive osteoarthritis (RPOA) and thus obviate unnecessary and costly diagnostic workup. RPOA is uncommon but is more frequently seen in practice because of the aging population. RPOA is a destructive arthropathy that occurs most commonly in elderly women but can also be seen in patients that have sustained trauma. The dramatic radiologic manifestations of RPOA can lead to diagnostic confusion with other arthropathies, infection, and osteonecrosis. RPOA was originally described in the hip but may also involve the shoulder. The etiology of RPOA is not well understood, but subchondral fracture probably plays a role in the development of dramatic destruction of the joint that is seen in affected patients. Early diagnosis may reduce the complexity of surgical management. RPOA is an uncommon condition that occurs most frequently in elderly woman or in patients who have sustained trauma. Prompt recognition of the clinical and radiologic features of this arthropathy can reduce unnecessary diagnostic workup and complexity of surgical intervention.

Pulmonary Langerhans Cell Histiocytosis in an Adult Male Presenting with Central Diabetes Insipidus and Diabetes Mellitus: A Case Report.

PubMed

Choi, Yeun Seoung; Lim, Jung Soo; Kwon, Woocheol; Jung, Soon-Hee; Park, Il Hwan; Lee, Myoung Kyu; Lee, Won Yeon; Yong, Suk Joong; Lee, Seok Jeong; Jung, Ye-Ryung; Choi, Jiwon; Choi, Ji Sun; Jeong, Joon Taek; Yoo, Jin Sae; Kim, Sang-Ha

2015-10-01

Pulmonary Langerhans cell histiocytosis is an uncommon diffuse cystic lung disease in adults. In rare cases, it can involve extrapulmonary organs and lead to endocrine abnormalities such as central diabetes insipidus. A 42-year-old man presented with polyphagia and polydipsia, as well as a dry cough and dyspnea on exertion. Magnetic resonance imaging of the hypothalamic-pituitary system failed to show the posterior pituitary, which is a typical finding in patients with central diabetes insipidus. This condition was confirmed by a water deprivation test, and the patient was also found to have type 2 diabetes mellitus. Computed tomographic scanning of the lungs revealed multiple, irregularly shaped cystic lesions and small nodules bilaterally, with sparing of the costophrenic angles. Lung biopsy through video-assisted thoracoscopic surgery revealed pulmonary Langerhans cell histiocytosis. On a follow-up visit, only 1 year after the patient had quit smoking, clinical and radiological improvement was significant. Here, we report an uncommon case of pulmonary Langerhans cell histiocytosis that simultaneously presented with diabetes insipidus and diabetes mellitus.

Pulmonary Langerhans Cell Histiocytosis in an Adult Male Presenting with Central Diabetes Insipidus and Diabetes Mellitus: A Case Report

PubMed Central

Choi, Yeun Seoung; Lim, Jung Soo; Kwon, Woocheol; Jung, Soon-Hee; Park, Il Hwan; Lee, Myoung Kyu; Lee, Won Yeon; Yong, Suk Joong; Lee, Seok Jeong; Jung, Ye-Ryung; Choi, Jiwon; Choi, Ji Sun; Jeong, Joon Taek; Yoo, Jin Sae

2015-01-01

Pulmonary Langerhans cell histiocytosis is an uncommon diffuse cystic lung disease in adults. In rare cases, it can involve extrapulmonary organs and lead to endocrine abnormalities such as central diabetes insipidus. A 42-year-old man presented with polyphagia and polydipsia, as well as a dry cough and dyspnea on exertion. Magnetic resonance imaging of the hypothalamic-pituitary system failed to show the posterior pituitary, which is a typical finding in patients with central diabetes insipidus. This condition was confirmed by a water deprivation test, and the patient was also found to have type 2 diabetes mellitus. Computed tomographic scanning of the lungs revealed multiple, irregularly shaped cystic lesions and small nodules bilaterally, with sparing of the costophrenic angles. Lung biopsy through video-assisted thoracoscopic surgery revealed pulmonary Langerhans cell histiocytosis. On a follow-up visit, only 1 year after the patient had quit smoking, clinical and radiological improvement was significant. Here, we report an uncommon case of pulmonary Langerhans cell histiocytosis that simultaneously presented with diabetes insipidus and diabetes mellitus. PMID:26508947

An unusual cause of acute abdominal pain in dengue fever.

PubMed

Waseem, Tariq; Latif, Hina; Shabbir, Bilquis

2014-07-01

Dengue fever is an acute febrile viral disease caused by the bite of Aedes aegypti mosquito. It is a major health problem especially in tropical and subtropical areas including South East Asia and Pakistan. In the past few years, dengue fever has been endemic in Northern Punjab. Physicians managing dengue fever come across varied and uncommon complications of dengue fever. We report a case of dengue fever that developed severe right upper quadrant abdominal pain and induration after extreme retching and vomiting for 2 days. A rectus sheath hematoma was confirmed on noncontrast computed tomography (CT). Rectus sheath hematoma as a complication of dengue fever has rarely been reported before and never from this part of the world. Rectus sheath hematoma is an uncommon and often clinically misdiagnosed cause of abdominal pain. It is the result of bleeding into the rectus sheath from damage to the superior or inferior epigastric artery or their branches or from a direct tear of the rectus muscle. It can mimic almost any abdominal condition (See Fig.) (See Table).

Cutaneous manifestations associated with adult-onset Still's disease: important diagnostic values.

PubMed

Yamamoto, Toshiyuki

2012-08-01

Adult-onset Still's disease (AOSD) is a systemic inflammatory condition, characterized by a high spiking fever, leukocytosis with neutrophilia, arthralgia, and skin rash. Typical skin rash is an evanescent, salmon-pink erythema predominantly involving extremities, which is included as one of the diagnostic criteria; however, recent findings show that not only typical evanescent rash but also various skin lesions are associated with AOSD. The representative characteristic skin lesion among the non-classical skin rash is called persistent pruritic papules and plaques, which presents erythematous, slightly scaly papules with linear configuration on the trunk. Interestingly, persistent pruritic papules and plaques show unique histological features such as peculiar, distinctive distribution of dyskeratotic keratinocytes in the cornified layers as well as in the epidermis. Other non-classical skin lesions include urticaria. Current insights suggest that several inflammatory cytokines such as interleukin-1 (IL-1), IL-6, IL-18, interferon-γ (IFN-γ) and tumor necrosis factor-α (TNF-α) play a pathogenic role in AOSD. In particular, IL-18 is suggested to play a crucial role in activating macrophages, favoring Th1 type cytokine production. IL-18 induces IFN-γ, IL-17, and TNF-α, which may play an important pathogenic role in AOSD. It is important to recognize the common and/or uncommon skin conditions of AOSD for early correct diagnosis. In this review, various skin lesions are introduced, and the complication with histiocytic necrotizing lymphadenitis (Kikuchi disease) is further discussed.

The risks of overlooking the diagnosis of secreting pituitary adenomas.

PubMed

Brue, Thierry; Castinetti, Frederic

2016-10-06

Secreting pituitary adenomas that cause acromegaly and Cushing's disease, as well as prolactinomas and thyrotroph adenomas, are uncommon, usually benign, slow-growing tumours. The rarity of these conditions means that their diagnosis is not familiar to most non-specialist physicians. Consequently, pituitary adenomas may be overlooked and remain untreated, and affected individuals may develop serious comorbidities that reduce their quality of life and life expectancy. Because many signs and symptoms of pituitary adenomas overlap with those of other, more common disorders, general practitioners and non-endocrinology specialists need to be aware of the "red flags" suggestive of these conditions. A long duration of active disease in patients with secreting pituitary adenomas is associated with an increased risk of comorbidities and reduced quality of life. Appropriate treatment can lead to disease remission, and, although some symptoms may persist in some patients, treatment usually reduces the incidence and severity of comorbidities and improves quality of life. Therefore, correct, early diagnosis and characterization of a pituitary adenoma is crucial for patients, to trigger timely, appropriate treatment and to optimize outcome. This article provides an overview of the epidemiology of hormonal syndromes associated with pituitary adenomas, discusses the difficulties of and considerations for their diagnosis, and reviews the comorbidities that may develop, but can be prevented, by accurate diagnosis and appropriate treatment. We hope this review will help general practitioners and non-endocrinology specialists to suspect secreting pituitary adenomas and refer patients to an endocrinologist for confirmation of the diagnosis and treatment.

AIDS phobia: report of 4 cases.

PubMed

Ross, M W

1988-01-01

Psychological reactions to sexually transmissible disease (STD) infection are common, occurring in up to 85% of some patients with STDs: Hart has suggested that they are among the most common conditions encountered in venereology. Previous psychiatric disturbances in STD patients, however, are relatively uncommon and differ in both etiology and management from such psychological sequelae of STD infection, although both Catalan et al. and Fitzpatrick et al. report that in the United Kingdom, some 40% of STD clinic attenders had General Health Questionnaire scores indicating they were psychiatric cases.

An unusual case of spontaneous esophagopleural fistula.

PubMed

Dash, Manoranjan; Mohanty, Thitta; Patnaik, Jyoti; Mishra, Narayan; Subhankar, Saswat; Parida, Priyadarsini

2017-01-01

Esophago-pleural fistula (EPF) is an uncommon condition, despite of an anatomical proximity of these structures. Causes of EPF include pneumonectomy for suppurative or tubercular disease of lung and carcinoma lung, malignancy of esophagus. Benign EPF is rare and may be due to trauma or infection. The most common infectious cause is tuberculosis. Spontaneous development of fistula between esophagus and pleura is rarely described in literature. We, hereby present a spontaneous case of such a rare entity in a middle-aged male.

An unusual case of spontaneous esophagopleural fistula

PubMed Central

Dash, Manoranjan; Mohanty, Thitta; Patnaik, Jyoti; Mishra, Narayan; Subhankar, Saswat; Parida, Priyadarsini

2017-01-01

Esophago-pleural fistula (EPF) is an uncommon condition, despite of an anatomical proximity of these structures. Causes of EPF include pneumonectomy for suppurative or tubercular disease of lung and carcinoma lung, malignancy of esophagus. Benign EPF is rare and may be due to trauma or infection. The most common infectious cause is tuberculosis. Spontaneous development of fistula between esophagus and pleura is rarely described in literature. We, hereby present a spontaneous case of such a rare entity in a middle-aged male. PMID:28474659

Chronic vaginocervical prolapse with visceral incarceration in a dog.

PubMed

McNamara, P S; Harvey, H J; Dykes, N

1997-01-01

A bitch was presented for a vaginal prolapse of five years' duration. The prolapse was confirmed by physical examination and evaluated by contrast radiography. Herniation of the uterine body, urinary bladder, and distal aspect of the colon was identified within the prolapse. The prolapse was reduced surgically, and an ovariohysterectomy, cystopexy, and colopexy were performed. Compared to other vaginal disorders, vaginal prolapse is an uncommon condition in the bitch. The secondary involvement of abdominal viscera appears to be exceptionally rare.

Concurrent Koro and Cotard syndromes in a Spanish male patient with a psychotic depression and cerebrovascular disease.

PubMed

Alvarez, P; Puente, V M; Blasco, M J; Salgado, P; Merino, A; Bulbena, A

2012-01-01

Koro and Cotard syndromes are uncommon conditions described in a variety of psychiatric and medical disorders. The authors report the third case of a simultaneous presentation of both syndromes, in a 62-year-old inpatient Spanish male with major depressive disorder with psychotic features, parkinsonism and cognitive impairment. A discussion of the literature and the possible relationship between both syndromes and other neuropsychiatric disorders are presented. Copyright © 2012 S. Karger AG, Basel.

An Uncommon Complication With Use of Topical Local Anesthetic Agents: Methemoglobinemia.

PubMed

Panikkath, Ragesh; Panikkath, Deepa; Wischmeyer, Jason

Although the use of topical local anesthetics is generally safe, several potentially fatal complications have been reported. Methemoglobinemia is a rare but potentially fatal complication. Methemoglobin is a naturally occurring oxidized metabolite of hemoglobin, and physiologic levels (<1%) are normal. Methemoglobinemia can be congenital or acquired. Several drugs including topical anesthetic agents like benzocaine can induce this condition. Sudden appearance of cyanosis, with a disproportionately better oxygen saturation of 85% after use of local anesthetics can be a helpful for diagnosis.

Predicting drug interactions in addiction treatment.

PubMed

Lucas, Catherine J; Patel, Joanne; Martin, Jennifer H

2017-08-01

It is not uncommon to be treating people with addiction who also have significant other health problems, including heart, renal or liver failure, diabetes and vascular disease. These conditions require regular medications to be taken. This can be a problem for people living with addiction and difficult social circumstances affecting compliance, among other issues. Our perspective provides a summary of general pharmacological factors affecting medicine taking in people with addiction problems, to provide a guide for hospital doctors in this setting. © 2017 Royal Australasian College of Physicians.

Cutaneous protothecosis in a patient with previously undiagnosed HIV infection.

PubMed

Fong, Kenneth; Tee, Shang-Ian; Ho, Madeline S L; Pan, Jiun Yit

2015-08-01

Protothecosis is an uncommon condition resulting from infection by achlorophyllous algae of the Prototheca species. Immunocompromised individuals are generally most susceptible to protothecal infection and tend to develop severe and disseminated disease. However, the association between protothecosis and HIV-induced immunosuppression is not clear, with only a handful of cases having been described to date. Here we report a case of cutaneous protothecosis in a Chinese man with previously undiagnosed HIV infection that responded well to oral itraconazole. © 2014 The Australasian College of Dermatologists.

Atypical presentation of macrophagic myofasciitis 10 years post vaccination.

PubMed

Ryan, Aisling M; Bermingham, Niamh; Harrington, Hugh J; Keohane, Catherine

2006-12-01

Macrophagic myofasciitis (MMF) is an uncommon inflammatory disorder of muscle believed to be due to persistence of vaccine-derived aluminium hydroxide at the site of injection. The condition is characterised by diffuse myalgias, arthralgia and fatigue. We describe a patient with histologically confirmed MMF whose presentation was atypical with left chest and upper limb pain beginning more than 10 years post vaccination. Treatment with steroids led to symptomatic improvement. Although rare, clinicians should consider MMF in cases of atypical myalgia.

Bedside ultrasound of the soft tissue of the face: a case of early Ludwig's angina.

PubMed

Gaspari, Romolo J

2006-10-01

A case is reported of a 38-year-old man presenting with early Ludwig's angina. It is difficult to differentiate superficial from deep infections of the face and neck by physical examination alone. The diagnosis of this condition with bedside soft tissue ultrasound of the face is described. Ludwig's angina is an uncommon infection of the deep tissues of the face and neck that usually evolves from more superficial infections such as dental abscesses.

A case of true tubal hydatidiform mole and literature review.

PubMed

Siozos, A; Sriemevan, A

2010-08-09

Tubal hydatidiform mole is an uncommon condition with about 40 confirmed cases in the accessible literature. The patient usually presents with symptoms and signs of a classical ectopic pregnancy and it is only after histological examination and DNA ploidy analysis of the conceptus that a hydatidiform mole is diagnosed. Management requires complete removal of the conceptus and follow-up needs to be arranged with an appropriate supraregional centre. The authors present a case of complete molar tubal pregnancy and a review of the literature.

Cerebellitis as an uncommon complication of infectious mononucleosis.

PubMed

de Fraiture, D M; Sie, T H; Boezeman, E H; Haanen, H C

1997-08-01

Cerebellitis is an uncommon complication of infectious mononucleosis. We describe such a patient with infectious mononucleosis and cerebellitis as a major feature of a more global encephalitis. In the discussion the cerebral complications are reviewed.

Extensive Myiasis infestation associated with Oral Squamous Cell Carcinoma: Report of two cases

PubMed Central

Biradar, Sudharani; Wankhede, Pranali; Munde, Anita; Shaikh, Safia

2015-01-01

Myiasis is the condition of infestation of the body by fly larvae (maggots). The deposited eggs develop into larvae, which penetrate deep structures causing adjacent tissue destruction. It is an uncommon clinical condition, being more frequent in tropical countries and hot climate regions, and associated with poor hygiene, suppurative oral lesions, alcoholism and senility. The diagnosis of Myiasis is basically made by the presence of larvae. The reported cases of oral Myiasis associated with oral cancer in the literature are few. This paper reports two cases of oral and maxillofacial Myiasis involving larvae in patients with squamous cell carcinoma in adult males. The condition was managed by manual removal of the larvae, one by one, with the help of forceps and subsequent management through proper health care. PMID:25709682

Uncommon and/or bizarre features of dementia: Part III.

PubMed

Cipriani, Gabriele; Nuti, Angelo; Danti, Sabrina; Picchi, Lucia; Di Fiorino, Mario

2018-06-01

Clinical neurologists have long recognized that dementia can present as atypical or variant syndromes/symptoms. This study aimed at describing uncommon or bizarre symptoms/syndromes observed in patients suffering from dementia. Medline and Google scholar searches were conducted for relevant articles, chapters, and books published before 2018. Search terms used included compulsion, dementia, extracampine hallucination, disordered gambling, humour, and obsession. Publications found through this indexed search were reviewed for further relevant references. The uncommon/bizarre feature of dementia was described as case reports and there were no systematic investigations.

Status assessment of New Zealand's naturally uncommon ecosystems.

PubMed

Holdaway, Robert J; Wiser, Susan K; Williams, Peter A

2012-08-01

Globally, ecosystems are under increasing anthropogenic pressure; thus, many are at risk of elimination. This situation has led the International Union for Conservation of Nature (IUCN) to propose a quantitative approach to ecosystem-risk assessment. However, there is a need for their proposed criteria to be evaluated through practical examples spanning a diverse range of ecosystems and scales. We applied the IUCN's ecosystem red-list criteria, which are based on changes in extent of ecosystems and reductions in ecosystem processes, to New Zealand's 72 naturally uncommon ecosystems. We aimed to test the applicability of the proposed criteria to ecosystems that are naturally uncommon (i.e., those that would naturally occur over a small area in the absence of human activity) and to provide information on the probability of ecosystem elimination so that conservation priorities might be set. We also tested the hypothesis that naturally uncommon ecosystems classified as threatened on the basis of IUCN Red List criteria contain more threatened plant species than those classified as nonthreatened. We identified 18 critically endangered, 17 endangered, and 10 vulnerable ecosystems. We estimated that naturally uncommon ecosystems contained 145 (85%) of mainland New Zealand's taxonomically distinct nationally critical, nationally endangered, and nationally vulnerable plant species, 66 (46%) of which were endemic to naturally uncommon ecosystems. We estimated there was a greater number of threatened plant species (per unit area) in critically endangered ecosystems than in ecosystems classified as nonthreatened. With their high levels of endemism and rapid and relatively well-documented history of anthropogenic change, New Zealand's naturally uncommon ecosystems provide an excellent case-study for the ongoing development of international criteria for threatened ecosystems. We suggest that interactions and synergies among decline in area, decline in function, and the scale of application of the criteria be used to improve the IUCN criteria for threatened ecosystems. ©2012 Society for Conservation Biology.

Episodic seasonal Pseudo-Bartter syndrome in cystic fibrosis.

PubMed

Kintu, Brett; Brightwell, Alex

2014-06-01

Pseudo-Bartter syndrome (PBS) describes an uncommon but well recognised complication of cystic fibrosis leading to hypochloraemic, hypokalaemic metabolic alkalosis. Pseudo-Bartter syndrome is usually seen at initial presentation or within the first two years of life in children with cystic fibrosis. Risk factors for development of PBS include warm weather conditions, severe respiratory or pancreatic disease and gastrointestinal losses (e.g. vomiting and diarrhoea). PBS is rare in older children and adolescents although epidemics have been associated with heat wave conditions in warmer climates. In this era of climate change, it is crucial that clinicians consider Pseudo-Bartter syndrome when patients with cystic fibrosis present unwell during summer. Copyright © 2014 Elsevier Ltd. All rights reserved.

Fanconi anaemia: genetics, molecular biology, and cancer – implications for clinical management in children and adults.

PubMed

Schneider, M; Chandler, K; Tischkowitz, M; Meyer, S

2015-07-01

Fanconi anaemia (FA) is an inherited disease with congenital and developmental abnormalities, cross-linker hypersensitivity and extreme cancer predisposition. With better understanding of the genetic and molecular basis of the disease, and improved clinical management, FA has been transformed from a life-limiting paediatric disease to an uncommon chronic condition that needs lifelong multidisciplinary management, and a paradigm condition for the understanding of the gene-environment interaction in the aetiology of congenital anomalies, haematopoiesis and cancer development. Here we review genetic, molecular and clinical aspects of FA, and discuss current controversies and future prospects. © 2014 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

Case studies of uncommon headaches.

PubMed

Evans, Randolph W

2006-05-01

The following interesting and uncommon headache disorders are presented through case studies: exploding head syndrome, hypnic headache, neck-tongue syndrome, "Alice in Wonderland" syndrome, nummular headache, red ear syndrome, burning mouth syndrome, spontaneous intracranial hypotension syndrome, and cardiac cephalalgia.

[Rumination syndrome: Diagnostic and therapeutic difficulties of a not so uncommon disorder].

PubMed

Giménez Casado, Aida; López Liñán, María José; Barba Orozco, Elisabeth; Accarino Garaventa, Anna; Álvarez Beltrán, Marina; Azpiroz Vidaur, Fernando; Segarra Cantón, Oscar

2018-02-01

Rumination syndrome is an uncommon gastrointestinal functional disorder that may be difficult to diagnose, as not many physicians are aware of this condition. In many cases, patients undergo numerous tests and are prescribed several treatments based on erroneous diagnoses. When the correct diagnosis is eventually made, therapy for the syndrome can be difficult and complex because of its multifactorial nature. The aim of this study was to present our experience with this condition, by presenting an analysis of the clinical, diagnostic, and therapeutic data of our patients. A prospective and retrospective study was conducted on all cases of rumination syndrome diagnosed between January 2010 and May 2016 in patients attending the Paediatric Gastroenterology Departments of two hospitals: Consorci Sanitari de Terrassa and Hospital Materno-Infantil Vall d'Hebron (Barcelona, Spain). The analysis included 12 patients, with a mean age at the onset of symptoms of 9 years and 1 month, and the mean time period to make the diagnosis was 2 years and 3 months. A mean of 8.1 complementary tests were carried out before establishing the diagnosis. In 10 of the 12 patients, some type of treatment had been given before the diagnosis of rumination syndrome, but was unsuccessful in all cases. Ten of our patients underwent the novel, experimental biofeedback therapy. Due to the limited knowledge of this condition among attending professionals in terms of the clinical presentation, diagnosis, and treatment, patients with rumination syndrome are often misdiagnosed and undergo numerous avoidable complementary tests, and invasive, costly treatments. Copyright © 2017 Asociación Española de Pediatría. Publicado por Elsevier España, S.L.U. All rights reserved.

APEX 3D Propeller Test Preliminary Design

NASA Technical Reports Server (NTRS)

Colozza, Anthony J.

2002-01-01

A low Reynolds number, high subsonic mach number flight regime is fairly uncommon in aeronautics. Most flight vehicles do not fly under these aerodynamic conditions. However, recently there have been a number of proposed aircraft applications (such as high altitude observation platforms and Mars aircraft) that require flight within this regime. One of the main obstacles to flight under these conditions is the ability to reliably generate sufficient thrust for the aircraft. For a conventional propulsion system, the operation and design of the propeller is the key aspect to its operation. Due to the difficulty in experimentally modeling the flight conditions in ground-based facilities, it has been proposed to conduct propeller experiments from a high altitude gliding platform (APEX). A preliminary design of a propeller experiment under the low Reynolds number, high mach number flight conditions has been devised. The details of the design are described as well as the potential data that will be collected.

JUVENILE SCLERODERMA-what has changed in the meantime?

PubMed

Adrovic, Amra; Sahin, Sezgin; Barut, Kenan; Kasapcopur, Ozgur

2018-04-22

Juvenile scleroderma is a rarely seen chronic connective tissue disorder characterized by stiffening of the skin. The frequency of the disease was reported as one per million. According to organ involvement, the disease is divided into two main forms: systemic and localized scleroderma. Since it is uncommon in children, many aspects of the disease remain discussable. With this review, we aimed to revise recent findings and new developments in this rare condition. Skin manifestations are most prominent feature of the systemic form, followed by musculoskeletal and vascular involvement. Cardiovascular, gastrointestinal and renal disorders are rare in childhood. Combination of disease modifying antirheumatic drugs (methotrexate, mycophenolate-mofetil, cyclosporine) and steroid reprents the first line therapy. Bosentan is used for cases with pulmonary hypertension and for extensive digital ulcerations. Biological treatment emerges as a useful treatment option in most severe form of the disease. Localized scleroderma is characterized with sclerodermatosis of the skin. Internal organ involvement is not expected. Classification of the local scleroderma is made according to the size and localization of the skin changes. There are few different therapeutical options but there is no specific therapy for the localized scleroderma. Many data regarding disease features and treatment options in juvenile scleroderma are based on studies among adults. There is a striking need for multicentric, prospective studies among children with juvenile scleroderma.Emerging biological agents and new treatment options are showing promising results. Anyhow, juvenile scleroderma remains a mystery with many aspects of the disease waiting to be solved. Copyright© Bentham Science Publishers; For any queries, please email at epub@benthamscience.org.

Ocular melanoma and mammary mucinous carcinoma in an African lion.

PubMed

Cagnini, Didier Q; Salgado, Breno S; Linardi, Juliana L; Grandi, Fabrizio; Rocha, Rafael M; Rocha, Noeme S; Teixeira, Carlos R; Del Piero, Fabio; Sequeira, Julio L

2012-09-25

Reports of neoplasms in Panthera species are increasing, but they are still an uncommon cause of disease and death in captive wild felids. The presence of two or more primary tumor in large felids is rarely reported, and there are no documented cases of ocular melanoma and mammary mucinous carcinoma in African lions. An ocular melanoma and a mammary mucinous carcinoma are described in an African lion (Panthera leo). The first tumour was histologically characterized by the presence of epithelioid and fusiform melanocytes, while the latter was composed of mucus-producing cells with an epithelial phenotype that contained periodic acid-Schiff (PAS) and Alcian blue staining mucins. Metastases of both tumor were identified in various organs and indirect immunohistochemistry was used to characterize them. Peribiliary cysts were observed in the liver. This is the first description of these tumor in African lions.

Structural and functional characterization of a calcium-activated cation channel from Tsukamurella paurometabola

NASA Astrophysics Data System (ADS)

Dhakshnamoorthy, Balasundaresan; Rohaim, Ahmed; Rui, Huan; Blachowicz, Lydia; Roux, Benoît

2016-09-01

The selectivity filter is an essential functional element of K+ channels that is highly conserved both in terms of its primary sequence and its three-dimensional structure. Here, we investigate the properties of an ion channel from the Gram-positive bacterium Tsukamurella paurometabola with a selectivity filter formed by an uncommon proline-rich sequence. Electrophysiological recordings show that it is a non-selective cation channel and that its activity depends on Ca2+ concentration. In the crystal structure, the selectivity filter adopts a novel conformation with Ca2+ ions bound within the filter near the pore helix where they are coordinated by backbone oxygen atoms, a recurrent motif found in multiple proteins. The binding of Ca2+ ion in the selectivity filter controls the widening of the pore as shown in crystal structures and in molecular dynamics simulations. The structural, functional and computational data provide a characterization of this calcium-gated cationic channel.

Characterization of phenolic compounds in Brazilian pepper (Schinus terebinthifolius Raddi) exocarp.

PubMed

Feuereisen, Michelle M; Hoppe, Julia; Zimmermann, Benno F; Weber, Fabian; Schulze-Kaysers, Nadine; Schieber, Andreas

2014-07-02

The objective of this study was to characterize the phenolic composition of Brazilian pepper (Schinus terebinthifolius Raddi) exocarp extract. Using UHPLC-DAD-MS/MS analysis, four anthocyanins, three biflavonoids, gallic acid, and two types of hydrolyzable tannins (galloyl glucoses, galloyl shikimic acids) were tentatively identified. The structure of the so far unknown 7-O-methylpelargonidin 3-O-β-D-galactopyranoside was elucidated by 2D NMR. Within the group of gallotannins, galloyl shikimic acids with uncommon degrees of galloylation (tetra- to hexagalloyl shikimic acids) were detected. Among the biflavonoids, I3',II8-biapigenin (amentoflavone), I6,II8-biapigenin (agathisflavone), and II-2,3-dihydro-I3',II8-biapigenin were identified, which have already been described for Anacardiaceae. From the results of the present study together with previous findings on the phenolic profile of other Anacardiaceae plants, it is concluded that 7-methoxylated flavonoids are a chemotaxonomic trait frequently found in this family.

Fracture of the penis: an atypical presentation.

PubMed

Waseem, Muhammad; Upadhyay, Ruchi; Kapoor, Ramnath; Agyare, Samuel

2013-08-13

Fracture of the penis is an uncommon injury presenting to the emergency department (ED). Personal embarrassment and social scenarios associated with this condition may result in underreporting. Patients often delay seeking medical attention, and even when they do, as in our case report, they may withhold the condition for a significant time. ED physicians need to be aware of the social inhibitions and the need for early diagnosis and prompt treatment. A delay in treatment increases the risk of complications such as ischemia, necrosis and penile deformity.Fracture of the penis is caused by rupture of the tunica albuginea of one or both corpora cavernosa by a blunt trauma to the erect penis. Diagnosis is usually clinical as evident by the characteristic history and clinical presentation. Diagnostic modalities aid in the management of the fracture and associated injuries if present. But promptness in the recognition and initiation of treatment can significantly reduce the chances of post-injury complications. We present a case of penile fracture in a young male who presented to the ED with abdominal pain, but careful history and physical examination revealed penile fracture. A delay in diagnosis could have led to complications. Our case report is an attempt to emphasize the need to suspect injury to the penis in a young adult who might present to the emergency department with an entirely different complaint and also to treat any penile trauma as an emergency. This report provides evidence of an uncommon and underreported clinical entity. A review of the pertinent literature is included.

Eagle syndrome surgical treatment with piezosurgery.

PubMed

Bertossi, Dario; Albanese, Massimo; Chiarini, Luigi; Corega, Claudia; Mortellaro, Carmen; Nocini, Pierfrancesco

2014-05-01

Eagle syndrome (ES) is an uncommon complication of styloid process elongation with stylohyoideal complex symptomatic calcification. It is an uncommon condition (4% of the population) that is symptomatic in only 4% of the cases. Eagle syndrome is usually an acquired condition that can be related to tonsillectomy or to a neck trauma. A type of ES is the styloid-carotid syndrome, a consequence of the irritation of pericarotid sympathetic fibers and compression on the carotid artery. Clinical manifestations are found most frequently after head turning and neck compression. Although conservative treatment (analgesics, anticonvulsants, antidepressants, local infiltration with steroids, or anesthetic agents) have been used, surgical treatment is often the only effective treatment in symptomatic cases. We present the case of a 55-year-old patient, successfully treated under endotracheal anesthesia. The cranial portion of the calcified styloid process was shortened through an external approach, using a piezoelectric cutting device (Piezosurgery Medical II; Mectron Medical Technology, Carasco, Italy) with MT1-10 insert, pump level 4, vibration level 7. No major postoperative complications such as nerve damage, hematoma, or wound dehiscence occurred. After 6 months, the patient was completely recovered. Two years after the surgery, the patient did not refer any symptoms related to ES. The transcervical surgical approach in patients with ES seems to be safe and effective, despite the remarkable risk for transient marginal mandibular nerve palsy. This risk can be decreased by the use of the piezoelectric device for its distinctive characteristics--such as precision, selective cut action, and bloodless cut.

Treatment of uncommon sites of focal primary hyperhidrosis: experience with pharmacological therapy using oxybutynin

PubMed Central

Teivelis, Marcelo Passos; Wolosker, Nelson; Krutman, Mariana; Kauffman, Paulo; de Campos, José Ribas Milanez; Puech-Leão, Pedro

2014-01-01

OBJECTIVES: Primary hyperhidrosis usually affects the hands, armpits, feet and cranio-facial region. Sweating in other areas is common in secondary hyperhidrosis (after surgery or in specific clinical conditions). Oxybutynin has provided good results and is an alternative for treating hyperhidrosis at common sites. Our aim was to evaluate the efficacy of oxybutynin as a treatment for primary sweating at uncommon sites (e.g., the back and groin). METHODS: This retrospective study analyzed 20 patients (10 females) who received oxybutynin for primary focal hyperhidrosis at uncommon sites. The subjects were evaluated to determine quality of life before beginning oxybutynin and six weeks afterward and they were assigned grades (on a scale from 0 to 10) to measure their improvement at each site of excessive sweating after six weeks and at the last consult. RESULTS: The median follow-up time with oxybutynin was 385 days (133-1526 days). The most common sites were the back (n = 7) and groin (n = 5). After six weeks, the quality of life improved in 85% of the subjects. Dry mouth was very common and was reported by 16 patients, 12 of whom reported moderate/severe dry mouth. Five patients stopped treatment (two: unbearable dry mouth, two: excessive somnolence and one: palpitations). At the last visit, 80% of patients presented with moderate/great improvement at the main sites of sweating. CONCLUSION: After six weeks, more than 80% of the patients presented with improvements in their overall quality of life and at the most important site of sweating. Side effects were common (80% reported at least one side effect) and caused 25% of the patients to discontinue treatment. Oxybutynin is effective for treating bothersome hyperhidrosis, even at atypical locations and most patients cope well with the side effects. PMID:25318092

Case report and surgical solution for nasal spine agenesis in a woman with Binder syndrome.

PubMed

Kansu, Leyla; Akkuzu, Babur; Avci, Suat

2008-07-01

Binder syndrome is an uncommon disorder of unknown etiology. It is characterized by hypoplasia of the nose and maxilla and altered morphology of the associated soft tissue. We report a 19-year-old Binder syndrome patient with short-nose deformity and anterior nasal spine agenesis. We present a surgical technique for nasal spine agenesis treatment. We used a titanium screw without a graft, which supported the nasal tip and increased tip projection. As there is good soft-tissue coverage over the screw, infection or extrusion was not encountered, and the patient had no complaints 1 year after surgery.

[Costal chondrosarcoma. 4 cases].

PubMed

Ben M'rad, S; el Hammami, S; Merai, S; Kamoun, N; Horchani, H; Ben Miled, K; Kilani, T; Djenayah, F

1999-09-04

Tumors of the rib cage are uncommon and malignant in 29% of the cases. Chondrosarcoma predominates, accounting for 40% of all cases of malignant costal tumors. Four patients (3 women, 1 man, mean age 28.2 years) were hospitalized for costal chondrosarcoma. Pain and tumefaction dominated the clinical presentation. Calcifications suggested the diagnosis in 3 cases. Curative surgery was performed in all cases. Postoperative radiotherapy was unable to improve prognosis in 2 patients. Chondrosarcoma of the ribs is characterized by a strong potential for invasive extension. Diagnosis is suspected on the basis of imaging findings and confirmed at pathology. Surgery is required. Chemotherapy and radiotherapy do not improve prognosis significantly.

The Seven Sleepers: a folie à deux case originating from a religious-cultural belief.

PubMed

Yazar, Menekse Sila; Erbek, Evrim; Eradamlar, Nezih; Alpkan, Latif

2011-11-01

Folie à deux is an uncommon psychiatric entity characterized by the transfer of delusional ideas and/or abnormal behavior from one person to another, or many others, who are in close contact with the primarily affected patient. In this paper we present a case of folie à deux, involving a married couple who suffered from a shared psychotic disorder with delusional interpretations of specific suras of the Koran. These mystical delusions were derived from the Anatolian legend of The Seven Sleepers. The case resulted in the death of the wife. This study illustrates the role of cultural and religious factors in folie à deux.

Acute Necrotizing Esophagitis Followed by Duodenal Necrosis

PubMed Central

del Hierro, Piedad Magdalena

2011-01-01

Acute Necrotizing Esophagitis is an uncommon pathology, characterized by endoscopic finding of diffuse black coloration in esophageal mucosa and histological presence of necrosis in patients with upper gastrointestinal bleeding. The first case of acute necrotizing esophagitis followed by duodenal necrosis, in 81 years old woman with a positive history of Type 2 Diabetes Mellitus, Hypertension, and usual intake of Nonsteroidal Anti-inflammatory drugs, is reported. Although its etiology remains unknown, the duodenal necrosis suggests that ischemia could be the main cause given that the branches off the celiac axis provide common blood supply to the distal esophageal and duodenal tissue. The massive gastroesophagic reflux and NSAID intake could be involved. PMID:27957030

Characterization of Ganglionic Acetylcholine Receptor Autoantibodies

PubMed Central

Vernino, Steven; Lindstrom, Jon; Hopkins, Steve; Wang, Zhengbei; Low, Phillip A.

2008-01-01

In myasthenia gravis (MG), autoantibodies bind to the α1 subunit and other subunits of the muscle nicotinic acetylcholine receptor (AChR). Autoimmune autonomic ganglionopathy (AAG) is an antibody-mediated neurological disorder caused by antibodies against neuronal AChRs in autonomic ganglia. Subunits of muscle and neuronal AChR are homologous. We examined the specificity of AChR antibodies in patients with MG and AAG. Ganglionic AChR autoantibodies found in AAG patients are specific for AChRs containing the α3 subunit. Muscle and ganglionic AChR antibody specificities are distinct. Antibody crossreactivity between AChRs with different α subunits is uncommon but can occur. PMID:18485491

The intriguing history of vertebral fusion anomalies: the Klippel-Feil syndrome.

PubMed

Saker, Erfanul; Loukas, Marios; Oskouian, Rod J; Tubbs, R Shane

2016-09-01

Our knowledge and understanding of vertebral fusion, defined and eponymously known as Klippel-Feil syndrome in the early 1900s, have a long history. This uncommon finding has been identified as early as 500 B.C. in an Egyptian mummy. Many more examples of spinal vertebra fusion have been described by Greek historians and recovered by archeologists demonstrating this entity's rich history. Klippel-Feil syndrome is a rare skeletal anomaly characterized by abnormal fusion of two or more vertebrae. With the advent of newer molecular technology and genetic discoveries, we now have a better understanding of the etiology and possible pathogenesis of this disease.

Occipital neuralgia.

PubMed

Dougherty, Carrie

2014-05-01

Occipital pain is a common complaint amongst patients with headache, and the differential can include many primary headache disorders such as cervicogenic headache or migraine. Occipital neuralgia is an uncommon cause of occipital pain characterized by paroxysmal lancinating pain in the distribution of the greater, lesser or third occipital nerves. Greater occipital nerve blockade with anesthetics and/or corticosteroids can aid in confirming the diagnosis and providing pain relief. However, nerve blocks are also effective in migraine headache and misdiagnosis can result in a false positive. Physical therapy and preventive medication with antiepileptics and tricyclic antidepressants are often effective treatments for occipital neuralgia. Refractory cases may require intervention with pulsed radiofrequency or occipital nerve stimulation.

Developing Textbook Materials in Uncommon Languages.

ERIC Educational Resources Information Center

Lathrop, Thomas A.

Guidelines are offered for preparing and publishing textbook materials in Portuguese and other uncommonly taught languages. The available options for publishing Portuguese materials include two textbook publishers, three university presses, self-publication, and the Cabrilho Press, which produces language textbooks. Methods for submitting…

Esthesioneuroblastoma (Olfactory Neuroblastoma) with Ectopic ACTH Syndrome: a multidisciplinary case presentation from the Joan Karnell cancer center of Pennsylvania Hospital.

PubMed

Mintzer, David M; Zheng, Sarah; Nagamine, Michiko; Newman, Jason; Benito, Maria

2010-01-01

The case of a patient with recurrent esthesioneuroblastoma complicated by ectopic adrenocorticotropic hormone production is presented, including the workup and management of this uncommon complication of an uncommon disease.

Esthesioneuroblastoma (Olfactory Neuroblastoma) with Ectopic ACTH Syndrome: A Multidisciplinary Case Presentation from the Joan Karnell Cancer Center of Pennsylvania Hospital

PubMed Central

Zheng, Sarah; Nagamine, Michiko; Newman, Jason; Benito, Maria

2010-01-01

The case of a patient with recurrent esthesioneuroblastoma complicated by ectopic adrenocorticotropic hormone production is presented, including the workup and management of this uncommon complication of an uncommon disease. PMID:20053760

Adolescent girls, the menstrual cycle, and bone health.

PubMed

Adams Hillard, Paula J; Nelson, Lawrence M

2003-05-01

In adolescent girls, amenorrhea is sometimes viewed as a variant of normal; in fact, however, during the first gynecologic year, the 95th percentile for cycle length is 90 days. Although early menstrual cycles are frequently anovulatory and may be somewhat irregular, girls with menses coming less frequently than every 90 days may have significant pathology associated with hypoestrogenism. Hypoestrogenism is a known risk factor for the development of osteoporosis. Causes of oligomenorrhea and amenorrhea include the relatively common conditions of hyperandrogenism, eating disorders, and exercise-induced amenorrhea, as well as uncommon conditions such as pituitary tumor, gonadal dysgenesis, and premature ovarian failure. Even functional hypothalamic oligomenorrhea has been linked to reduced bone density. Attention to menstrual irregularity and the earlier diagnosis of conditions causing it may lead to interventions that will benefit life-long bone health.

Bilateral Vocal Cord Palsy with Arnold Chiari Malformation: A Rare Case Series

PubMed Central

Arora, Nikhil; Meher, Ravi; Bhargava, Eishaan K.

2016-01-01

Stridor in paediatric age group is not an uncommon presentation to the ENT emergency. The range of differential diagnosis is vast. The presentation may vary from noisy breathing to severe respiratory distress and apnea. Early and meticulous diagnosis is crucial for the management as the condition may be life threatening. We report a rare case series of 3 infants with Arnold Chiari Malformation who presented to the hospital with stridor and were diagnosed with bilateral vocal cord palsy. These 3 infants had similar underlying neurological condition with hydrocephalus and raised intracranial pressure. Chiari malformation is the one of the most common congenital central nervous system anomaly associated with bilateral vocal cord paralysis. However, the presentation is rare. This article, thus, emphasizes the significance of early diagnosis and immediate management of this condition. PMID:27790480

Problem based review: a patient with Parkinson's disease.

PubMed

Arora, A; Fletcher, P

2013-01-01

Parkinson's disease (PD) is a chronic, progressive neurodegenerative disease characterized by bradykinesia, tremor and/ or rigidity, often with gait disturbance and postural instability. In addition to these typical features, patients with PD may experience further problems related to the disease itself or to the medications used to treat it. These comorbid problems include neuropsychiatric conditions (including psychosis, hallucinations, excessive daytime sleepiness, anxiety, depression, fatigue and dementia) as well as problems associated with autonomic nervous system function such as bowel and bladder function. PD can also present in emergency situations with a 'neuroleptic malignant like picture' and acute psychosis. It is not uncommon to see motor fluctuations due to drug interactions and 'withdrawal' symptoms following dose reduction of dopamine agonists. In patients with PD, disturbances of mental state constitute some of the most difficult treatment challenges of advanced disease, often limiting effective treatment of motor symptoms and leading to increased disability and poor quality of life. While some of these symptoms may be alleviated by antiparkinsonian medication, especially if they are 'off-period' related, treatment-related phenomena are usually exacerbated by increasing the number or dosage of antiparkinsonian drugs. Elimination of exacerbating factors and simplification of drug regimens are the first and most important steps in improvement of such symptoms.

An uncommon cause of hypoglycemia: insulin autoimmune syndrome.

PubMed

Savas-Erdeve, Senay; Yılmaz Agladioglu, Sebahat; Onder, Asan; Peltek Kendirci, Havva Nur; Bas, Veysel Nijat; Sagsak, Elif; Cetinkaya, Semra; Aycan, Zehra

2014-01-01

Insulin autoimmune syndrome (IAS) is a condition characterized by hypoglycemia associated with the presence of autoantibodies to insulin in patients who have not been injected with insulin. A female patient (aged 16 years and 3 months) presented with the complaint of being overweight. Physical examination revealed a body weight of 78.2 kg (+2.6 SD) and a height of 167 cm (+0.73 SD). While the patient's fasting blood glucose level was found to be 40 mg/dl, blood ketone was negative and the serum insulin level was determined as 379 mIU/ml. The patient was diagnosed with hyperinsulinemic hypoglycemia. Abdominal ultrasound, pancreas MRI and endoscopic ultrasound were normal. The daily blood glucose profile revealed postprandial hyperglycemia and reactive hypoglycemia in addition to fasting hypoglycemia. The results of anti-insulin antibody measurements were as high as 41.8% (normal range 0-7%). A 1,600-calorie diet containing 40% carbohydrate and divided into 6 meals a day was given to the patient. Simple sugars were excluded from the diet. Hypoglycemic episodes were not observed, but during 2 years of observation, serum levels of insulin and anti-insulin antibodies remained elevated. In all hyperinsulinemic hypoglycemia cases, IAS should be considered in the differential diagnosis and insulin antibody measurements should be carried out. © 2014 S. Karger AG, Basel.

Development and characterization of silicone embedded distributed piezoelectric sensors for contact detection

NASA Astrophysics Data System (ADS)

Acer, Merve; Salerno, Marco; Agbeviade, Kossi; Paik, Jamie

2015-07-01

Tactile sensing transfers complex interactive information in a most intuitive sense. Such a populated set of data from the environment and human interactions necessitates various degrees of information from both modular and distributed areas. A sensor design that could provide such types of feedback becomes challenging when the target component has a nonuniform, agile, high resolution, and soft surface. This paper presents an innovative methodology for the manufacture of novel soft sensors that have a high resolution sensing array due to the sensitivity of ceramic piezoelectric (PZT) elements, while uncommonly matched with the high stretchability of the soft substrate and electrode design. Further, they have a low profile and their transfer function is easy to tune by changing the material and thickness of the soft substrate in which the PZTs are embedded. In this manuscript, we present experimental results of the soft sensor prototypes: PZTs arranged in a four by two array form, measuring 1.5-2.3 mm in thickness, with the sensitivity in the range of 0.07-0.12 of the normalized signal change per unit force. We have conducted extensive tests under dynamic loading conditions that include impact, step and cyclic. The presented prototype's mechanical and functional capacities are promising for applications in biomedical systems where soft, wearable and high precision sensors are needed.

Fulminant infection by uncommon organisms in animal bite wounds.

PubMed

Dutta, J K

1998-10-01

In 1995 and 1996, 215 patients exposed to different species of animals were treated at the Amarnath Polyclinic, Balasore, in India. Among them were two children infected by uncommon organisms, i.e., Capnocytophaga canimorsus and Pasteurella multocida; the patients recovered with appropriate antibiotic therapy.

Differential Tuning of Ventral and Dorsal Streams during the Generation of Common and Uncommon Tool Uses.

PubMed

Matheson, Heath E; Buxbaum, Laurel J; Thompson-Schill, Sharon L

2017-11-01

Our use of tools is situated in different contexts. Prior evidence suggests that diverse regions within the ventral and dorsal streams represent information supporting common tool use. However, given the flexibility of object concepts, these regions may be tuned to different types of information when generating novel or uncommon uses of tools. To investigate this, we collected fMRI data from participants who reported common or uncommon tool uses in response to visually presented familiar objects. We performed a pattern dissimilarity analysis in which we correlated cortical patterns with behavioral measures of visual, action, and category information. The results showed that evoked cortical patterns within the dorsal tool use network reflected action and visual information to a greater extent in the uncommon use group, whereas evoked neural patterns within the ventral tool use network reflected categorical information more strongly in the common use group. These results reveal the flexibility of cortical representations of tool use and the situated nature of cortical representations more generally.

Necrotizing Fasciitis - Report of ten cases and review of recent literature

PubMed Central

Al Shukry, S; Ommen, J

2013-01-01

Necrotizing fasciitis is an uncommon disease that results in gross morbidity and mortality if not diagnosed and treated in its early stages. At onset, however, it is difficult to differentiate from other superficial skin conditions such as cellulitis. Family physicians must have a high level of suspicion and low threshold for surgical referral when confronted with cases of pain, fever, and erythema. We present ten cases of necrotizing fasciitis managed in a provincial secondary hospital in Oman over 3 years ago. A review of recent literature is also presented. PMID:23904882

[Pyoderma gangrenosum and hemopathies. Apropos of 2 cases].

PubMed

Doutre, M S; Beylot, C; Beylot, J; Broustet, A; Reiffers, J; Busquet, M; Barberis, C; Garabiol, B

1987-01-01

Pyoderma gangrenosum (PG) is an uncommon ulcerative disease of the skin. The cause is unknown but the condition is often associated with other diseases such as rheumatoid arthritis, ulcerative colitis, Crohn's disease or monoclonal gammopathy. The association between PG and haematological malignancies (acute leukaemia, Myeloproliferative disorders) is infrequent. Two cases of PG associated with haemopathy are described; one had primary thrombocythaemia and the other, acute myeloblastic leukaemia following for myeloma. The significance of this association is discussed in the light of other observations previously reported in the literature.

Follicular Dowling Degos disease: a rare variant of an evolving dermatosis.

PubMed

Singh, Saurabh; Khandpur, Sujay; Verma, Parul; Singh, Manoj

2013-01-01

Dowling Degos disease is a rare, reticulate pigmentary disorder with variable phenotypic expression that manifests as hyperpigmented macules and reticulate pigmentary anomaly of the flexures. Many variants of this condition and its overlap with other reticulate pigmentary disorders have been reported in the literature. We present here two cases of DDD with follicular localization, both clinically and histologically. It was associated with ichthyosis vulgaris in one case. Follicular DDD is an uncommon variant of this evolving dermatosis. Our report supports the possible role for disordered follicular keratinisation in its pathogenesis.

Dorsal vein rupture after practice of taqaandan, necrotising cavernositis, penile reconstruction, urethroplasty and penile prosthesis implantation.

PubMed

Faydaci, G; Ozgul, A; Kuyumcuoglu, U; Aktoz, T; Oder, M

2012-05-01

Penile fracture is an uncommon and emergent urologic condition defined as traumatic rupture of the corpus cavernosum secondary to a blunt trauma of the erect penis. Tunica albuginea is thinned and stretched in the erect state, and a transverse tear in the corpus cavernosums may occur by a buckling force. However, penile dorsal vein tears may mimic penile fracture. Also, corporeal infection and purulent cavernositis are associated with trauma, cavernosography, priapism, intracavernosal injection therapy and penile prosthesis. © 2011 Blackwell Verlag GmbH.

Acantholytic dermatosis of the vulva.

PubMed

Mansura, Adva; Maly, Alexander; Ramot, Yuval; Zlotogorski, Abraham

2015-05-18

Acantholytic dermatosis of the vulva is a rare condition, presenting with papular eruption in the genital area without history of Darier disease or Hailey-Hailey disease. We report a case with a papular pruritic eruption in the region of the vulva, coalescing into plaques. Biopsy specimen showed irregular acanthosis with an area of split-like bullous formation in the deeper part of the epidermis, as well as acantholytic cells, marked hypergranulosis and hyperkeratosis, compatible with the rare diagnosis of acantholytic dermatosis of the vulva. We review the clinical and histological characteristics of this uncommon disease.

Appendiceal hemorrhage -- an uncommon cause of lower gastrointestinal bleeding.

PubMed

Chiang, Ching-Chung; Tu, Chi-Wen; Liao, Chi-Szu; Shieh, Min-Chieh; Sung, Tien-Chou

2011-06-01

Lower gastrointestinal bleeding is a common disease among elderly patients. The common sources of lower gastrointestinal bleeding include vascular disease, Crohn's disease, neoplasms, inflammatory bowel disease, hemorrhoids, and ischemic colitis. Lower gastrointestinal bleeding arising from the appendix is an extremely rare condition. We report a case of appendiceal hemorrhage in a young male. Diagnosis was made by multidetector computerized tomography during survey for hematochezia. The patient recovered well after appendectomy. The histological finding revealed focal erosion of appendix mucosa with bleeding. Copyright © 2011. Published by Elsevier B.V.

Less travelled roads in clinical immunology and allergy: drug reactions and the environmental influence.

PubMed

Selmi, Carlo; Crotti, Chiara; Meroni, Pier Luigi

2013-08-01

Allergy and clinical immunology are examples of areas of knowledge in which working hypotheses are dominant over mechanistic understanding. As such, sometimes scientific efforts follow major streams and overlook some epidemiologically prevalent conditions that thus become underestimated by the research community. For this reason, we welcome the present issue of Clinical Reviews in Allergy and Immunology that is dedicated to uncommon themes in clinical immunology and allergy. First, comprehensive discussions are provided for allergy phenomena of large potential impact in clinical practice such as reactions to cephalosporins or aspirin-induced asthma and in everyday life such as allergies to food additives or legumes. Further, the issue addresses other uncommon themes such as urticaria and angioedema, cercarial dermatitis, or late-onset inflammation to soft tissue fillers. Last, there will be discussion on transversal issues such as olfactory defects in autoimmunity, interleukin 1 beta pathway, and the search for new serological markers in chronic inflammation. As a result, we are convinced that this issue will be of help to clinicians involved in internal medicine as well as to allergists and clinical immunologists. More importantly, we are convinced that these discussions will be of interest also to basic scientists for the numerous translational implications.

Numb chin syndrome as a manifestation of possible breast cancer metastasis around dental implants.

PubMed

Orhan, Kaan; Bayndr, Hakan; Aksoy, Seçil; Seker, Basak Kusakci; Berberoğlu, Atilla; Ozan, Oğuz

2011-05-01

Numb chin syndrome, sometimes called numb lip syndrome, is an uncommon but well-recognized symptom in medical oncology. It may be a metastatic neurologic manifestation of malignancy, often with no clinically visible pathologic finding. The authors report a numb chin syndrome as a manifestation possible breast cancer metastasis around dental implants in a 69-year-old woman. The patient was presented with complaint of numbness in the lower jaw. Medical anamnesis revealed a metastatic breast carcinoma (CA). Radiographic imaging with conventional panoramic radiography and cone beam computed tomographic examination, revealed a moth-eaten shape, radiolucent, and radiopaque mixed appearance around the dental implants that was related with possible metastasis of the breast cancer. Numb chin syndrome is almost unknown within the dental and oral and maxillofacial community, despite being well reported in the medical literature. General dentists, oral medicine specialists, and oral and maxillofacial surgeons must be aware of this condition to consider metastatic cancer in patients with unexplained facial hypoesthesia. Moreover, although the development of metastatic lesions around implants is an uncommon pathologic finding, the examination of peri-implant lesion should be performed carefully considering the entire pathologic situations.

Smallpox and live-virus vaccination in transplant recipients.

PubMed

Fishman, Jay A

2003-07-01

Recent bioterrorism raises the specter of reemergence of smallpox as a clinical entity. The mortality of variola major infection ('typical smallpox') was approximately 30% in past outbreaks. Programs for smallpox immunization for healthcare workers have been proposed. Atypical forms of smallpox presenting with flat or hemorrhagic skin lesions are most common in individuals with immune deficits with historic mortality approaching 100%. Smallpox vaccination, even after exposure, is highly effective. Smallpox vaccine contains a highly immunogenic live virus, vaccinia. Few data exist for the impact of variola or safety of vaccinia in immunocompromised hosts. Both disseminated infection by vaccinia and person-to-person spread after vaccination are uncommon. When it occurs, secondary vaccinia has usually affected individuals with pre-existing skin conditions (atopic dermatitis or eczema) or with other underlying immune deficits. Historically, disseminated vaccinia infection was uncommon but often fatal even in the absence of the most severe form of disease, "progressive vaccinia". Some responded to vaccinia immune globulin. Smallpox exposure would be likely to cause significant mortality among immunocompromised hosts. In the absence of documented smallpox exposures, immunocompromised hosts should not be vaccinated against smallpox. Planning for bioterrorist events must include consideration of uniquely susceptible hosts.

Minerals and design of new waste forms for conditioning nuclear waste

NASA Astrophysics Data System (ADS)

Montel, Jean-Marc

2011-02-01

Safe storage of radioactive waste is a major challenge for the nuclear industry. Mineralogy is a good basis for designing ceramics, which could eventually replace nuclear glasses. This requires a new storage concept: separation-conditioning. Basic rules of crystal chemistry allow one to select the most suitable structures and natural occurrences allow assessing the long-term performance of ceramics in a geological environment. Three criteria are of special interest: compatibility with geological environment, resistance to natural fluids, and effects of self-irradiation. If mineralogical information is efficient for predicting the behaviour of common, well-known minerals, such as zircon, monazite or apatite, more research is needed to rationalize the long-term behaviour of uncommon waste form analogs.

High left ventricular outflow tract gradient: Aortic stenosis, obstructive hypertrophic cardiomyopathy or both?

PubMed

Almeida, Inês; Caetano, Francisca; Trigo, Joana; Mota, Paula; Marques, António Leitão

2015-05-01

The authors report the case of a patient diagnosed with both hypertrophic cardiomyopathy and aortic stenosis. Due to clinical deterioration, additional investigation was performed, and a high left ventricular outflow tract gradient was identified. Correct identification of the condition causing the symptoms was challenging, and involved several imaging techniques, the contribution of transesophageal echocardiography being crucial. The final diagnosis of severe aortic stenosis led to successful valve replacement surgery. The presence of these two conditions in the same patient has been documented, although it is uncommon. This association poses particular diagnostic and therapeutic challenges, which are discussed in this paper. Copyright © 2015 Sociedade Portuguesa de Cardiologia. Published by Elsevier España. All rights reserved.

Cutaneous silica granuloma. A rare entity or rarely diagnosed Report of two cases with review of the literature

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

Mowry, R.G.; Sams, W.M. Jr.; Caulfield, J.B.

1991-05-01

Cutaneous silica granuloma is a poorly understood, uncommon condition that may mimic cutaneous sarcoidosis. We describe two cases of this entity and their characteristic latency period (between the time of silica exposure to the time of clinical onset of granuloma). We also review the histologic and energy dispersive x-ray analysis data, which prove the diagnosis. This condition should be recognized as an occupational dermatosis as well as the result of past incidental cuts or abrasions, which result in the development of granulomas, many in old wound scars. Differentiation from cutaneous sarcoidosis is possible with polarized light microscopy and energy-dispersive x-raymore » analysis.15 references.« less

Different key roles of mesoscale oceanographic structures and ocean bathymetry in shaping larval fish distribution pattern: A case study in Sicilian waters in summer 2009

NASA Astrophysics Data System (ADS)

Cuttitta, Angela; Quinci, Enza Maria; Patti, Bernardo; Bonomo, Sergio; Bonanno, Angelo; Musco, Marianna; Torri, Marco; Placenti, Francesco; Basilone, Gualtiero; Genovese, Simona; Armeri, Grazia Maria; Spanò, Antonina; Arculeo, Marco; Mazzola, Antonio; Mazzola, Salvatore

2016-09-01

Fish larvae data collected in year 2009 were used to examine the effects of particular environmental conditions on the structure of larval assemblages in two oligotrophic Mediterranean areas (the Southern Tyrrhenian Sea and the Strait of Sicily). For this purpose, relationships with environmental variables (temperature, salinity and fluorescence), zooplankton biomass, water circulation and bathymetry are discussed. Hydrodynamic conditions resulted very differently between two study areas. The Southern Tyrrhenian Sea was characterized by moderate shallow circulation compared to the Strait of Sicily. In this framework, distribution pattern of larval density in the Tyrrhenian Sea was mainly driven by bathymetry, due to spawning behavior of adult fish. There, results defined four assemblages: two coastal assemblages dominated by pelagic and demersal families and two oceanic assemblages dominated by mesopelagic species more abundant in western offshore and less abundant in eastern offshore. The assemblage variations in the western side was related to the presence of an anti-cyclonic gyre in the northern side of the Gulf of Palermo, while in the eastern side the effect of circulation was not very strong and the environmental conditions rather than the dispersal of species determined the larval fish communities structure. Otherwise in the Strait of Sicily the currents were the main factor governing the concentration and the assemblage structure. In fact, the distribution of larvae was largely consistent with the branch of the Atlantic Ionian Stream (AIS). Moreover, very complex oceanographic structures (two cyclonic circulations in the western part of the study area and one anti-cyclonic circulation in the eastern part) caused the formation of uncommon spatial distribution of larval fish assemblages, only partially linked to bathymetry of the study area. Typically coastal larvae (pelagic families: Engraulidae and Clupeidae) were mostly concentrated in the offshore areas and off Capo Passero, where the presence of a thermo-haline front maintained their position in an area with favourable conditions for larval fish feeding and growth.

Fulminant infection by uncommon organisms in animal bite wounds.

PubMed Central

Dutta, J. K.

1998-01-01

In 1995 and 1996, 215 patients exposed to different species of animals were treated at the Amarnath Polyclinic, Balasore, in India. Among them were two children infected by uncommon organisms, i.e., Capnocytophaga canimorsus and Pasteurella multocida; the patients recovered with appropriate antibiotic therapy. PMID:10211359

Orofacial clinical features in Arnold Chiari type I malformation: A case series.

PubMed

de Arruda, José-Alcides; Figueiredo, Eugênia; Monteiro, João-Luiz; Barbosa, Livia-Mirelle; Rodrigues, Cleomar; Vasconcelos, Belmiro

2018-04-01

Arnold Chiari malformation (ACM) is characterized by an anatomical defect at the base of the skull where the cerebellum and the spinal cord herniate through the foramen magnum into the cervical spinal canal. Among the subtypes of the condition, ACM type I (ACM-I) is particularly outstanding because of the severity of symptoms. This study aimed to analyze the orofacial clinical manifestations of patients with ACM-I, and discuss their demographic distribution and clinical features in light of the literature. A case series with patients with ACM-I treated between 2012 and 2015 was described. The sample consisted of patients who were referred by the Department of Neurosurgery to the Oral and Maxillofacial Surgery Service of Hospital da Restauração in Brazil for the assessment of facial symptomatology. A questionnaire was applied to evaluate the presence of painful orofacial findings. Data are reported using descriptive statistical methods. Mean patient age was 39.3 years and the sample consisted mostly of male patients. A high prevalence of headache (50%) and pain in the neck (66.7%) and masticatory muscles (50%) was found. Only one patient reported difficulty in performing mandibular movements and two reported jaw clicking sounds. Mean mouth opening was 40.83 mm. ACM-I patients may exhibit orofacial symptoms which may mimic temporomandibular joint disorders. This study brings interesting information that could help clinicians and oral and maxillofacial surgeons to understand this uncommon condition and also help with the diagnosis of patients with similar physical characteristics by referring them to a neurosurgeon. Key words: Arnold-Chiari malformation, facial pain, diagnosis, orofacial.

Service Use Preceding Opioid-Related Fatality.

PubMed

Olfson, Mark; Wall, Melanie; Wang, Shuai; Crystal, Stephen; Blanco, Carlos

2017-11-28

This study analyzed health service patterns before opioid-related death among nonelderly individuals in the Medicaid program, focusing on decedents with and without past-year diagnoses of noncancer chronic pain. The authors identified opioid-related decedents, age ≤64 years, in the Medicaid program and characterized their clinical diagnoses, filled medication prescriptions, and nonfatal poisoning events during the 30 days and 12 months before death. The study group included 13,089 opioid-related deaths partitioned by presence or absence of chronic noncancer pain diagnoses in the last year of life. Most decedents (61.5%) had received clinical diagnoses of chronic noncancer pain conditions in the last year of life. As compared with decedents without chronic pain diagnoses, those with these diagnoses were significantly more likely to have filled prescriptions for opioids (49.0% versus 17.2%) and benzodiazepines (52.1% versus 26.6%) during the last 30 days of life, while diagnoses of opioid use disorder during this period were uncommon in both groups (4.2% versus 4.3%). The chronic pain group was also significantly more likely than the nonpain group to receive clinical diagnoses of drug use (40.8% versus 22.1%), depression (29.6% versus 13.0%) or anxiety (25.8% versus 8.4%) disorders during the last year of life. Persons dying of opioid-related causes, particularly those who were diagnosed with chronic pain conditions, commonly received services related to drug use disorders and mental disorders in the last year of life, though opioid use disorder diagnoses near the time of death were rare.

Epipalpebral conjunctival chondroid choristoma: Interesting developmental anomaly presenting in an adult.

PubMed

Ojha, Pushpanjali R; Deshpande, Archana Hemant; Gargade, Chitrawati Bal; Nigam, Jitendra Singh

2017-07-01

Ocular choristomas are uncommon lesions chiefly presenting in children. Choristomas may contain dermal and epidermal components, muscle, cartilage, bone, etc. They are usually seen in epibulbar conjunctiva, but epipalpebral location is uncommon. We present a case of epipalpebral chondroid choristoma presenting in an adult patient.

Culture, Relevance, and Schooling: Exploring Uncommon Ground

ERIC Educational Resources Information Center

Scherff, Lisa, Ed.; Spector, Karen, Ed.

2011-01-01

In "Culture, Relevance, and Schooling: Exploring Uncommon Ground," Lisa Scherff, Karen Spector, and the contributing authors conceive of culturally relevant and critically minded pedagogies in terms of opening up new spatial, discursive, and/or embodied learning terrains. Readers will traverse multiple landscapes and look into a variety of spaces…

Mutation update and uncommon phenotypes in a French cohort of 96 patients with WFS1-related disorders.

PubMed

Chaussenot, A; Rouzier, C; Quere, M; Plutino, M; Ait-El-Mkadem, S; Bannwarth, S; Barth, M; Dollfus, H; Charles, P; Nicolino, M; Chabrol, B; Vialettes, B; Paquis-Flucklinger, V

2015-05-01

WFS1 mutations are responsible for Wolfram syndrome (WS) characterized by juvenile-onset diabetes mellitus and optic atrophy, and for low-frequency sensorineural hearing loss (LFSNHL). Our aim was to analyze the French cohort of 96 patients with WFS1-related disorders in order (i) to update clinical and molecular data with 37 novel affected individuals, (ii) to describe uncommon phenotypes and, (iii) to precise the frequency of large-scale rearrangements in WFS1. We performed quantitative polymerase chain reaction (PCR) in 13 patients, carrying only one heterozygous variant, to identify large-scale rearrangements in WFS1. Among the 37 novel patients, 15 carried 15 novel deleterious putative mutations, including one large deletion of 17,444 base pairs. The analysis of the cohort revealed unexpected phenotypes including (i) late-onset symptoms in 13.8% of patients with a probable autosomal recessive transmission; (ii) two siblings with recessive optic atrophy without diabetes mellitus and, (iii) six patients from four families with dominantly-inherited deafness and optic atrophy. We highlight the expanding spectrum of WFS1-related disorders and we show that, even if large deletions are rare events, they have to be searched in patients with classical WS carrying only one WFS1 mutation after sequencing. © 2014 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

Dissociable Brain States Linked to Common and Creative Object Use

PubMed Central

Chrysikou, Evangelia G.; Thompson-Schill, Sharon L.

2013-01-01

Studies of conceptual processing have revealed that the prefrontal cortex is implicated in close-ended, deliberate memory retrieval, especially the left ventrolateral prefrontal regions. However, much of human thought—particularly that which is characterized as creative—requires more open-ended, spontaneous memory retrieval. To explore the neural systems that support conceptual processing under these two distinct circumstances, we obtained functional magnetic resonance images from 24 participants either while retrieving the common use of an everyday object (e.g., “blowing your nose,” in response to a picture of a tissue) or while generating a creative (i.e., uncommon but plausible) use for it (e.g., “protective padding in a package”). The patterns of activation during open- and closed-ended tasks were reliably different, with regard to the magnitude of anterior versus posterior activation. Specifically, the close-ended task (i.e., Common Use task) reliably activated regions of lateral prefrontal cortex, whereas the open-ended task (i.e., Uncommon Use task) reliably activated regions of occipito-temporal cortex. Furthermore, there was variability across subjects in the types of responses produced on the open-ended task that was associated with the magnitude of activation in the middle occipital gyrus on this task. The present experiment is the first to demonstrate a dynamic tradeoff between anterior frontal and posterior occipitotemporal regions brought about by the close- or open-ended task demands. PMID:20533561

Complex Diagnostic and Treatment Issues in Psychotic Symptoms Associated with Narcolepsy

PubMed Central

Ivanenko, Anna

2009-01-01

Narcolepsy is an uncommon chronic, neurological disorder characterized by abnormal manifestations of rapid eye movement sleep and perturbations in the sleep-wake cycle. Accurate diagnosis of psychotic symptoms in a person with narcolepsy could be difficult due to side effects of stimulant treatment (e.g., hallucinations) as well as primary symptoms of narcolepsy (e.g., sleep paralysis and hypnagogic and/or hypnapompic hallucinations). Pertinent articles from peer-reviewed journals were identified to help understand the complex phenomenology of psychotic symptoms in patients with narcolepsy. In this ensuing review and discussion, we present an overview of narcolepsy and outline diagnostic and management approaches for psychotic symptoms in patients with narcolepsy. PMID:19724760

Osteochondroma of the Scapula with Accessory Nerve (XI) Compression.

PubMed

Beauchamp-Chalifour, Philippe; Pelet, Stéphane

2018-01-01

Osteochondroma is the most common benign bone tumor and is characterized as a cartilage-capped bony stalk. This lesion usually develops from the growth plate of long bones. Most osteochondromas are asymptomatic. Neurovascular compressions or cosmetic issues can occur in specific locations. Malignant transformation is extremely rare, and MRI can help evaluate these lesions. Symptomatic mass and malignancy features are the main surgical indications. Uncommonly, an osteochondroma can develop from flat bones. We present the case of a 25-year-old patient with a right scapula osteochondroma causing an accessory nerve compression. The mass was surgically removed, and the diagnosis was confirmed. The patient fully recovered at the latest 3-year follow-up visit.

Coexistence of nail lichen planus and lichen planus pigmentosus.

PubMed

Lemes, Luciana Rodino; Verde, Renata Brandão Villa; Durães, Sandra Maria Barbosa; Araripe, Adolpho de Alencar; Pantaleão, Luciana

2016-01-01

We describe a fifty-six-year old, Afro-descendent female patient showing dystrophy of her twenty nails and hyperchromic, asymptomatic macule on her face. Histopathological examination of the macule showed vacuolization of the basal layer, melanophages in the superficial dermis and lymphoplasmocytic inflammatory infiltrate. Nail biopsy revealed orthokeratotic hyperkeratosis and lichenoid inflammatory infiltrate. Lichen planus pigmentosus is an uncommon variety of lichen planus. It is characterized by typical hyperpigmented macules on the face and neck. Nail changes might be present in 10% of lichen planus cases, but no associations with lichen planus pigmentosus have been described. We report a case of lichen planus in twenty nails associated with lichen planus pigmentosus on the patient's face.

Rheumatoid arthritis and pseudo-vesicular skin plaques: rheumatoid neutrophilic dermatosis.

PubMed

Manriquez, Juan; Giesen, Laura; Puerto, Constanza Del; Gonzalez, Sergio

2016-01-01

A 54 year-old woman with a 3-year history of rheumatoid arthritis (RA) consulted us because of weight loss, fever and skin eruption. On physical examination, erythematous plaques with a pseudo-vesicular appearance were seen on the back of both shoulders. Histological examination was consistent with rheumatoid neutrophilic dermatosis (RND). After 3 days of prednisone treatment, the skin eruption resolved. RND is a rare cutaneous manifestation of seropositive RA, characterized by asymptomatic, symmetrical erythematous plaques with a pseudo-vesicular appearance. Histology characteristically reveals a dense, neutrophilic infiltrate with leucocitoclasis but without other signs of vasculitis. Lesions may resolve spontaneously or with RA treatment. This case illustrates an uncommon skin manifestation of active rheumatoid arthritis.

Pitfall in the Diagnosis of Diabetes Insipidus and Pregnancy

PubMed Central

Fleischer, Jessica B.; Khandji, Alexander G.; Wardlaw, Sharon L.

2017-01-01

Diabetes insipidus (DI) during pregnancy and the perinatal period is an uncommon medical problem characterized by polyuria and excessive thirst. Diagnosis of DI may be overlooked in the setting of pregnancy, a time when increased water intake and urine output are commonly reported. We report two cases: one of transient DI in a young woman during her third trimester of twin pregnancy in association with acute fatty liver and hypertension and one of postpartum DI secondary to Sheehan syndrome from rupture of a splenic artery aneurysm. These cases illustrate the spectrum with which DI related to pregnancy and delivery can present and highlight the difficulty in making the diagnosis since the symptoms are often initially overlooked. PMID:28819576

Incidental late diagnosis of cystic fibrosis following AH1N1 influenza virus pneumonia: a case report.

PubMed

Iadevaia, Carlo; Iacotucci, Paola; Carnovale, Vincenzo; Calabrese, Cecilia; Rea, Gaetano; Ferrara, Nicola; Perrotta, Fabio; Mazzarella, Gennaro; Bianco, Andrea

2017-10-01

Cystic fibrosis is an autosomal recessive disorder characterized by chronic progressive multisystem involvement. AH1N1 virus infections caused classic influenza symptoms in the majority of cystic fibrosis patients while others experienced severe outcomes. We report a case of late incidental cystic fibrosis diagnosis in a young Caucasian man suffering from respiratory failure following infection due to AH1N1 influenza virus. The patient was admitted to our department with fever, cough, and dyspnea at rest unresponsive to antibiotics CONCLUSIONS: Late diagnosis of cystic fibrosis in uncommon. This report highlights the importance of early cystic fibrosis diagnosis to minimize risk of occurrence of potential life-threatening complications.

Oral Rehabilitation of an Osteopetrosis Patient with Osteomyelitis

PubMed Central

Celakil, Tamer; Dogan, Merve; Rohlig, Bilge Gokcen; Evlioglu, Gulumser; Keskin, Haluk

2016-01-01

Osteopetrosis is a congenital disorder characterized by increasing osteoclastic function resulting in osteomyelitis in the jaws. Orofacial findings in osteopetrosis patients are unerupted, malformed, or delayed teeth and many dental caries due to vulnerable enamel and dentin and osteomyelitis. Many reports have described that maxilla is an uncommon site of occurrence for osteomyelitis due to cortical bone morphology and collateral circulation. This report aims to discuss clinical features and prosthodontic management of a patient with clinical features of adult form of osteopetrosis and osteomyelitis in both jaws. The patient has reported better masticatory and speech efficiency with removable dentures in maxillary and mandibular jaw and also self-esteem improvement and family interaction. PMID:27148461

Oral Rehabilitation of an Osteopetrosis Patient with Osteomyelitis.

PubMed

Celakil, Tamer; Dogan, Merve; Rohlig, Bilge Gokcen; Evlioglu, Gulumser; Keskin, Haluk

2016-01-01

Osteopetrosis is a congenital disorder characterized by increasing osteoclastic function resulting in osteomyelitis in the jaws. Orofacial findings in osteopetrosis patients are unerupted, malformed, or delayed teeth and many dental caries due to vulnerable enamel and dentin and osteomyelitis. Many reports have described that maxilla is an uncommon site of occurrence for osteomyelitis due to cortical bone morphology and collateral circulation. This report aims to discuss clinical features and prosthodontic management of a patient with clinical features of adult form of osteopetrosis and osteomyelitis in both jaws. The patient has reported better masticatory and speech efficiency with removable dentures in maxillary and mandibular jaw and also self-esteem improvement and family interaction.

SVC obstruction and stridor relieved by nasogastric tube insertion.

PubMed

Molena, Emma J; Krishnamoorthy, Ashwin; Praveen, Coimbatore

2016-03-01

Achalasia is an idiopathic motility disorder of the oesophagus of increasing incidence. It is characterized by aperistalsis of the lower oesophagus and failure of relaxation of the lower oesophageal sphincter. Patients classically present with chronic symptoms of dysphagia, chest pain, weight loss and regurgitation, and they commonly suffer pulmonary complications such as recurrent microaspiration of static, retained food contents of the upper oesophagus. However, it has also been described, uncommonly, to present with megaoesophagus and secondary tracheal compression. We present a case of megaoesophagus secondary to achalasia which presented with stridor and signs of acute superior vena caval obstruction. Published by Oxford University Press and JSCR Publishing Ltd. All rights reserved. © The Author 2016.

Novel Occurrence of Uncommon Polyamines in Higher Plants 1

PubMed Central

Kuehn, Glenn D.; Rodriguez-Garay, Benjamin; Bagga, Suman; Phillips, Gregory C.

1990-01-01

Diamines and polyamines are ubiquitous components of living cells, and apparently are involved in numerous cellular and physiological processes. Certain “uncommon” polyamines have limited distribution in nature and have been associated primarily with organisms adapted to extreme environments, although the precise function of these polyamines in such organisms is unknown. This article summarizes current knowledge regarding the occurrence in higher plants of the uncommon polyamines related to and including norspermidine and norspermine. A putative biosynthetic pathway to account for the occurrences of these uncommon polyamines in higher plants is presented, with a summary of the supporting evidence indicating the existence of the requisite enzymatic activities in alfalfa, Medicago sativa L. PMID:16667862

Management of uncommon disorders in pregnancy: Von Hippel-Lindau disease, Gitelman syndrome, and Nutcracker syndrome.

PubMed

Merhi, Basma; Miller, Margaret; Lanis, Aviya; Katz, Brittany; Hsu, Tiffany; Tong, Iris

2017-09-01

Uncommon renal disorders in pregnancy can be challenging to manage given limited evidence in the literature to guide management. We present a series of three uncommon renal disorders in pregnancy: Von Hippel-Lindau disease, Gitelman syndrome, and Nutcracker syndrome. Previously published case reports with differing outcomes offer some guidance to the management of these disorders in pregnancy. In this case series, we address the management of these syndromes during pregnancy and discuss the maternal and fetal outcomes. All three of our patients had good maternal and fetal outcomes, which will contribute to current data on maternal and fetal outcomes in these rare diseases, which is limited.

Chest pain in daily practice: occurrence, causes and management.

PubMed

Verdon, François; Herzig, Lilli; Burnand, Bernard; Bischoff, Thomas; Pécoud, Alain; Junod, Michel; Mühlemann, Nicole; Favrat, Bernard

2008-06-14

We assessed the occurrence and aetiology of chest pain in primary care practice. These features differ between primary and emergency care settings, where most previous studies have been performed. 59 GPs in western Switzerland recorded all consecutive cases presenting with chest pain. Clinical characteristics, laboratory tests and other investigations as well as the diagnoses remaining after 12 months of follow-up were systematically registered. Among 24,620 patients examined during a total duration of 300 weeks of observation, 672 (2.7%) presented with chest pain (52% female, mean age 55 +/- 19(SD)). Most cases, 442 (1.8%), presented new symptoms and in 356 (1.4%) it was the reason for consulting. Over 40 ailments were diagnosed: musculoskeletal chest pain (including chest wall syndrome) (49%), cardiovascular (16%), psychogenic (11%), respiratory (10%), digestive (8%), miscellaneous (2%) and without diagnosis (3%). The three most prevalent diseases were: chest wall syndrome (43%), coronary artery disease (12%) and anxiety (7%). Unstable angina (6), myocardial infarction (4) and pulmonary embolism (2) were uncommon (1.8%). Potentially serious conditions including cardiac, respiratory and neoplasic diseases accounted for 20% of cases. A large number of laboratory tests (42%), referral to a specialist (16%) or hospitalisation (5%) were performed. Twentyfive patients died during follow-up, of which twelve were for a reason directly associated with thoracic pain [cancer (7) and cardiac causes (5)]. Thoracic pain was present in 2.7% of primary care consultations. Chest wall syndrome pain was the main aetiology. Cardio - vascular emergencies were uncommon. However chest pain deserves full consideration because of the occurrence of potentially serious conditions.

Plasma exchange in the treatment of thyroid storm secondary to type II amiodarone-induced thyrotoxicosis.

PubMed

Zhu, Ling; Zainudin, Sueziani Binte; Kaushik, Manish; Khor, Li Yan; Chng, Chiaw Ling

2016-01-01

Type II amiodarone-induced thyrotoxicosis (AIT) is an uncommon cause of thyroid storm. Due to the rarity of the condition, little is known about the role of plasma exchange in the treatment of severe AIT. A 56-year-old male presented with thyroid storm 2months following cessation of amiodarone. Despite conventional treatment, his condition deteriorated. He underwent two cycles of plasma exchange, which successfully controlled the severe hyperthyroidism. The thyroid hormone levels continued to fall up to 10h following plasma exchange. He subsequently underwent emergency total thyroidectomy and the histology of thyroid gland confirmed type II AIT. Management of thyroid storm secondary to type II AIT can be challenging as patients may not respond to conventional treatments, and thyroid storm may be more harmful in AIT patients owing to the underlying cardiac disease. If used appropriately, plasma exchange can effectively reduce circulating hormones, to allow stabilisation of patients in preparation for emergency thyroidectomy. Type II AIT is an uncommon cause of thyroid storm and may not respond well to conventional thyroid storm treatment.Prompt diagnosis and therapy are important, as patients may deteriorate rapidly.Plasma exchange can be used as an effective bridging therapy to emergency thyroidectomy.This case shows that in type II AIT, each cycle of plasma exchange can potentially lower free triiodothyronine levels for 10h.Important factors to consider when planning plasma exchange as a treatment for thyroid storm include timing of each session, type of exchange fluid to be used and timing of surgery.

Duodenoduodenal intussusception: Report of three challenging cases with literature review.

PubMed

Pradhan, Dinesh; Kaur, Neeraj; Nagi, Birinder

2015-01-01

Small bowel intussusception is an uncommon condition with cases of duodenoduodenal intussusception (DDI) being exceptionally rare. Adult intussusception occurs infrequently and differs from childhood intussusception in its presentation, etiology, and treatment. DDI is very unusual due to the fixed position of the duodenum within the retroperitoneum. The lead point usually is hamartomatous polyp, adenoma, or adenocarcinoma. Only few cases of DDI in adults have been reported in the literature. We herein report a series of three cases of DDI encountered in a tertiary level research institute. All cases had underlying abnormality acting as lead point with different etiologies. DDI is a challenging condition due to its rarity and nonspecific presentation and should be considered in the differential diagnosis of gastric outlet obstruction, pancreatitis, and obstructive jaundice. We elaborate this condition with a detailed review of the literature to gain a better understanding of its clinical features and enable early diagnosis.

High-resolution seismic-reflection interpretations of some sediment deposits, Antarctic continental margin: Focus on the western Ross Sea

USGS Publications Warehouse

Karl, Herman A.

1989-01-01

High-resolution seismic-reflection data have been used to a varying degree by geoscientists to interpret the history of marine sediment accumulations around Antarctica. Reconnaissance analysis of 1-, 3.5-, and 12-kHz data collected by the U.S. Geological Survey in the western Ross Sea has led to the identification of eight echo-character facies and six microtopographic facies in the sediment deposits that overlie the Ross Sea unconformity. Three depositional facies regions, each characterized by a particular assemblage of echo-character type and microtopographic facies, have been identified on the continental shelf. These suites of acoustic facies are the result of specific depositional processes that control type and accumulation of sediment in a region. Evidence of glacial processes and products is uncommon in regions 1 and 2, but is abundant in region 3. McMurdo Sound, region 1, is characterized by a monospecific set of acoustic facies. This unique assemblage probably represents turbidity current deposition in the western part of the basin. Most of the seafloor in region 2, from about latitude 77??S to 75??S, is deeper than 600 m below sealevel. The microtopographic facies and echo-character facies observed on the lower slopes and basin floor there reflect the thin deposits of pelagic sediments that have accumulated in the low-energy conditions that are typical of deep-water environments. In shallower water near the boundary with region 3, the signature of the acoustic facies is different from that in deeper water and probably indicates higher energy conditions or, perhaps, ice-related processes. Thick deposits of tills emplaced by lodgement during the most recent advance of the West Antarctic Ice Sheet are common from latitude 75??S to the northern boundary of the study area just south of Coulman Island (region 3). The signature of microtopographic facies in this region reflects the relief of the base of the grounded ice sheet prior to decoupling from the seafloor. Current winnowing and scour of shallow parts of the seafloor inhibits sediment deposition and maintains the irregular, hummocky relief that characterizes much of the region. Seafloor relief of this type in other polar areas could indicate the former presence of grounded ice. ?? 1989.

Advocacy: Emphasizing the Uncommon about the Common Core State Standards

ERIC Educational Resources Information Center

Kaplan, Sandra N.

2014-01-01

The author describes key issues and uncommon concerns about the Common Core State Standards that fit within two categories: philosophical and pedagogical. Philosophically, Common Core State K-12 Standards should not be expected to be mastered at a specific grade level but based on developmental readiness. Pedagogically, Common Core State Standards…

Soft-Tissue Sarcomas of the Abdomen and Pelvis: Radiologic-Pathologic Features, Part 2-Uncommon Sarcomas.

PubMed

Levy, Angela D; Manning, Maria A; Miettinen, Markku M

2017-01-01

Soft-tissue sarcomas occurring in the abdomen and pelvis are an uncommon but important group of malignancies. Recent changes to the World Health Organization classification of soft-tissue tumors include the movement of gastrointestinal stromal tumors (GISTs) into the soft-tissue tumor classification. GIST is the most common intraperitoneal sarcoma. Liposarcoma is the most common retroperitoneal sarcoma, and leiomyosarcoma is the second most common. GIST, liposarcoma, and leiomyosarcoma account for the majority of sarcomas encountered in the abdomen and pelvis and are discussed in part 1 of this article. Undifferentiated pleomorphic sarcoma (previously called malignant fibrous histiocytoma), dermatofibrosarcoma protuberans, solitary fibrous tumor, malignant peripheral nerve sheath tumor, rhabdomyosarcoma, extraskeletal chondro-osseous sarcomas, vascular sarcomas, and sarcomas of uncertain differentiation uncommonly arise in the abdomen and pelvis and the abdominal wall. Although these lesions are rare sarcomas and their imaging features overlap, familiarity with the locations where they occur and their imaging features is important so they can be diagnosed accurately. The anatomic location and clinical history are important factors in the differential diagnosis of these lesions because metastasis, more-common sarcomas, borderline fibroblastic proliferations (such as desmoid tumors), and endometriosis have imaging findings that overlap with those of these uncommon sarcomas. In this article, the clinical, pathologic, and imaging findings of uncommon soft-tissue sarcomas of the abdomen and pelvis and the abdominal wall are reviewed, with an emphasis on their differential diagnosis.

Soft-Tissue Sarcomas of the Abdomen and Pelvis: Radiologic-Pathologic Features, Part 2—Uncommon Sarcomas

PubMed Central

Manning, Maria A.; Miettinen, Markku M.

2017-01-01

Soft-tissue sarcomas occurring in the abdomen and pelvis are an uncommon but important group of malignancies. Recent changes to the World Health Organization classification of soft-tissue tumors include the movement of gastrointestinal stromal tumors (GISTs) into the soft-tissue tumor classification. GIST is the most common intraperitoneal sarcoma. Liposarcoma is the most common retroperitoneal sarcoma, and leiomyosarcoma is the second most common. GIST, liposarcoma, and leiomyosarcoma account for the majority of sarcomas encountered in the abdomen and pelvis and are discussed in part 1 of this article. Undifferentiated pleomorphic sarcoma (previously called malignant fibrous histiocytoma), dermatofibrosarcoma protuberans, solitary fibrous tumor, malignant peripheral nerve sheath tumor, rhabdomyosarcoma, extraskeletal chondro-osseous sarcomas, vascular sarcomas, and sarcomas of uncertain differentiation uncommonly arise in the abdomen and pelvis and the abdominal wall. Although these lesions are rare sarcomas and their imaging features overlap, familiarity with the locations where they occur and their imaging features is important so they can be diagnosed accurately. The anatomic location and clinical history are important factors in the differential diagnosis of these lesions because metastasis, more-common sarcomas, borderline fibroblastic proliferations (such as desmoid tumors), and endometriosis have imaging findings that overlap with those of these uncommon sarcomas. In this article, the clinical, pathologic, and imaging findings of uncommon soft-tissue sarcomas of the abdomen and pelvis and the abdominal wall are reviewed, with an emphasis on their differential diagnosis. PMID:28493803

Identification of uncommon oral yeasts from cancer patients by MALDI-TOF mass spectrometry.

PubMed

Aslani, Narges; Janbabaei, Ghasem; Abastabar, Mahdi; Meis, Jacques F; Babaeian, Mahasti; Khodavaisy, Sadegh; Boekhout, Teun; Badali, Hamid

2018-01-08

Opportunistic infections due to Candida species occur frequently in cancer patients because of their inherent immunosuppression. The aim of the present study was to investigate the epidemiology of yeast species from the oral cavity of patients during treatment for oncological and haematological malignancies. MALDI-TOF was performed to identify yeasts isolated from the oral cavity of 350 cancer patients. Moreover, antifungal susceptibility testing was performed in according to CLSI guidelines (M27-A3). Among 162 yeasts and yeast-like fungi isolated from the oral cavity of cancer patients, Candida albicans was the most common species (50.6%), followed by Candida glabrata (24.7%), Pichia kudriavzevii (Candida krusei (9.9%)), Candida tropicalis (4.3%), Candida dubliniensis (3.7%), Kluyveromyces marxianus (Candida kefyr (3.7%)) and Candida parapsilosis (1%). In addition, uncommon yeast species i.e., Saprochaete capitata, Saccharomyces cerevisiae, Clavispora lusitaniae (C. lusitaniae) and Pichia kluyveri (C. eremophila) were recovered from oral lesions. Oral colonization by C. albicans, non-albicans Candida species and uncommon yeasts were as follow; 55%, 44% and 1%, whereas oral infection due to C. albicans was 33.3%, non-albicans Candida species 60.6%, and uncommon yeasts 6.1%. Poor oral hygiene and xerostomia were identified as independent risk factors associated with oral yeast colonization. The overall resistance to fluconazole was 11.7% (19/162). Low MIC values were observed for anidulafungin for all Candida and uncommon yeast species. This current study provides insight into the prevalence and susceptibility profiles of Candida species, including emerging Candida species and uncommon yeasts, isolated from the oral cavity of Iranian cancer patients. The incidence of oral candidiasis was higher amongst patients with hematological malignancies. The majority of oral infections were caused by non-albicans Candida species which were often more resistant to anti-fungal agents. Our findings suggest that anidulafungin should be used as antifungal of choice for prophylaxis in clinically high-risk patients with documented oral colonization or infection.

A rare side effect of transesophageal echocardiography: methemoglobinemia from topical benzocaine anesthesia.

PubMed

Jaffery, Zehra; Ananthasubramaniam, Karthik

2008-03-01

Benzocaine induced methemoglobinemia is an uncommon, potentially fatal condition. A 44-year-old woman with a history of hepatitis C and intravenous drug use was referred for transesophageal echocardiography for bacteremia evaluation. During induction of topical anesthesia with benzocaine spray she became cyanotic. Pulse oximetry revealed marked desaturation (75%) but was discordant from arterial blood O(2) saturation (99%). Due to clinical suspicion, methemoglobin level was measured and noted to be 69%. The patient was treated with 2 mg/kg of methylene blue intravenously with resolution of her symptoms. Physicians using topical anesthesia in endoscopic suites should be aware of this rare, potentially life-threatening treatable condition. High clinical suspicion and availability of methylene blue in endoscopy suites will facilitate prompt diagnosis and treatment.

Saudi Guidelines on the Diagnosis and Treatment of Pulmonary Hypertension: Pulmonary hypertension in children

PubMed Central

Al Dabbagh, Maha; Banjar, Hanna; Galal, Nasser; Kouatli, Amjad; Kandil, Hammam; Chehab, May

2014-01-01

Pulmonary hypertension (PH) is relatively uncommon in children. Pulmonary arterial hypertension (PAH) in pediatric comprises a wide spectrum of diseases, from a transient neonatal condition to a progressive disease associated with morbidity and mortality. Most common PAH in pediatric are idiopathic (IPAH) or PAH associated with congenital heart disease (PAH-CHD), while other associated conditions, such as connective tissue disease (CTD), are less common in pediatrics. Despite better understanding of PH and the availability of new medications during recent decades; the diagnosis, investigation and choice of therapy remain a challenge in children, as evidence-based recommendations depend mainly on adult studies. In this review, we provide a detailed discussion about the distinctive features of PAH in pediatric, mainly emphacysing on classification and diagnostic algorithm. PMID:25076989

Topical anesthetic abuse keratitis secondary to floppy eyelid syndrome.

PubMed

Goldich, Yakov; Zadok, David; Avni, Isaac; Hartstein, Morris

2011-01-01

To report the diagnosis and management of a patient with chronic ophthalmic topical anesthetic abuse and floppy eyelid syndrome. We describe the case of a 47-year-old man suffering from persistent bilateral ocular irritation and chronic corneal erosions. The patient was hospitalized in our ophthalmology department and underwent thorough ophthalmic, systemic, and psychiatric evaluation. Chronic topical anesthetic abuse was discovered. Removal of abused drops and copious lubricating treatment lead to partial improvement further permitting diagnosis of floppy eyelid syndrome. Definitive surgical treatment by horizontal eyelid tightening combined with continuous lubrication resulted in remission of symptoms. Uncommon conditions may coexist in 1 patient. In this case, floppy eyelid syndrome resulted in topical anesthetic abuse. Ophthalmologists should keep both these conditions in mind when treating patients with otherwise unexplained chronic persistent corneal erosions.

Defining and characterizing coolwater streams and their fish assemblages in Michigan and Wisconsin, USA

USGS Publications Warehouse

Lyons, John; Zorn, Troy; Stewart, Jana S.; Seelbach, Paul W.; Wehrly, Kevin; Wang, Lizhu

2009-01-01

Coolwater streams, which are intermediate in character between coldwater “trout” streams and more diverse warmwater streams, occur widely in temperate regions but are poorly understood. We used modeled water temperature data and fish assemblage samples from 371 stream sites in Michigan and Wisconsin to define, describe, and map coolwater streams and their fish assemblages. We defined coolwater streams as ones having summer water temperatures suitable for both coldwater and warmwater species and used the observed distributions of the 99 fish species at our sites to identify coolwater thermal boundaries. Coolwater streams had June-through-August mean water temperatures of 17.0–20.5°C, July mean temperatures of 17.5–21.0°C, and maximum daily mean temperatures of 20.7–24.6°C. We delineated two subclasses of coolwater streams: “cold transition” (having July mean water temperatures of 17.5–19.5°C) and “warm transition” (having July mean temperatures of 19.5–21.0°C). Fish assemblages in coolwater streams were variable and lacked diagnostic species but were generally intermediate in species richness and overlapped in composition with coldwater and warmwater streams. In cold-transition streams, coldwater (e.g., salmonids and cottids) and transitional species (e.g., creek chub Semotilus atromaculatus, eastern blacknose dace Rhynichthys atratulus, white sucker Catostomus commersonii, and johnny darter Etheostoma nigrum) were common and warmwater species (e.g., ictalurids and centrarchids) were uncommon; in warm-transition streams warmwater and transitional species were common and coldwater species were uncommon. Coolwater was the most widespread and abundant thermal class in Michigan and Wisconsin, comprising 65% of the combined total stream length in the two states (cold-transition streams being more common than warm-transition ones). Our approach can be used to identify and characterize coolwater streams elsewhere in the temperate region, benefiting many aspects of fisheries management and environmental protection.

Toward energy literacy: the uncommon accomplishments of an uncommon team

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

Schneiter, P.H.

In an effort to meet the energy challenge, Energy and Man's Environment (EME) involves business and educational communities in teaching the nation about energy. Reaching almost 18,000 educators with its programs last year, EME followed conferences with implementation programs, providing materials and hands-on experiences. Some EME programs are for college credit. 1 table.

Lessons learned in attempting to survey hard-to-reach ethnic segments along with the presentation of a comprehensive questionnaire that includes some uncommon independent variables and some uncommon methods of measurement.

DOT National Transportation Integrated Search

2011-01-01

A survey questionnaire was developed and administered to transit users in the Sacramento Metropolitan Area to analyze the degree to which global satisfaction with transit is impacted by ethnicity and other relevant independent variables : Although th...

Catalog of Uncommon Facilities in Western Colleges and Universities.

ERIC Educational Resources Information Center

Viehland, Dennis, Comp.

A list of rare, and often unique, facilities in the western part of the United States is presented that is designed to serve as a resource for researchers. The list of facilities is a guide to what uncommon equipment, centers or institutes, and collections are available at western higher education facilities and what provisions exist for sharing…

Nonrheumatic myopericarditis post acute streptococcal pharyngitis: An uncommon cause of sore throat with ST segment elevation.

PubMed

Pourmand, Ali; Gelman, Daniel; Davis, Steven; Shokoohi, Hamid

2017-05-01

Nonrheumatic myopericarditis is an uncommon complication of acute pharyngitis caused by Group A Streptococcal infection (GAS). While the natural history of carditis complicating acute rheumatic fever is well established, the incidence, pathophysiology and clinical course of nonrheumatic myopericarditis are ill defined. Advances in rapid bedside testing for both myocardial injury and GAS pharyngitis have allowed for increasing recognition of this uncommon complication in patients presenting with a sore throat with associated chest discomfort. We describe a case of a 34years old man with GAS pharyngitis complicated by acute myopericarditis who presented with chest pain, ST segment elevation on electrocardiogram, and elevated cardiac biomarkers. Copyright © 2016 Elsevier Inc. All rights reserved.

Management of pulmonary arterial hypertension.

PubMed

McLaughlin, Vallerie V; Shah, Sanjiv J; Souza, Rogerio; Humbert, Marc

2015-05-12

Pulmonary hypertension (PH) is common and may result from a number of disorders, including left heart disease, lung disease, and chronic thromboembolic disease. Pulmonary arterial hypertension (PAH) is an uncommon disease characterized by progressive remodeling of the distal pulmonary arteries, resulting in elevated pulmonary vascular resistance and, eventually, in right ventricular failure. Over the past decades, knowledge of the basic pathobiology of PAH and its natural history, prognostic indicators, and therapeutic options has exploded. A thorough evaluation of a patient is critical to correctly characterize the PH. Cardiac studies, including echocardiography and right heart catheterization, are key elements in the assessment. Given the multitude of treatment options currently available for PAH, assessment of risk and response to therapy is critical in long-term management. This review also underscores unique situations, including perioperative management, intensive care unit management, and pregnancy, and highlights the importance of collaborative care of the PAH patient through a multidisciplinary approach. Copyright © 2015 American College of Cardiology Foundation. Published by Elsevier Inc. All rights reserved.

Sessile Serrated Adenomas: How to Detect, Characterize and Resect

PubMed Central

Ma, Michael X.; Bourke, Michael J.

2017-01-01

Serrated polyps are important contributors to the burden of colorectal cancers (CRC). These lesions were once considered to have no malignant potential, but currently up to 30% of all CRC are recognized to arise from the serrated neoplasia pathway. The primary premalignant lesions are sessile serrated adenomas/polyps (SSA/Ps), although traditional serrated adenomas are relatively uncommon. Compared to conventional adenomas, SSA/Ps are morphologically subtle with indistinct borders, may be difficult to detect endoscopically, are more prevalent than previously thought, are associated with synchronous and metachronous advanced neoplasia, and have a higher risk of incomplete resection. Although many lesions remain “dormant,” progressive disease is associated with the development of dysplasia and more rapid progression to CRC. As a result, SSA/Ps are strongly implicated in the development of interval cancers. These factors represent unique challenges that require a meticulous approach to their management. In this review, we summarize the contemporary literature on the characterization, detection and resection of SSA/Ps. PMID:28494577

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

Rosatelli, M.C.; Faa, V.; Sardu, R.

This study reports the molecular characterization of [beta]-thalassemia in the Sardinian population. Three thousand [beta]-thalassemia chromosomes from prospective parents presenting at the genetic service were initially analyzed by dot blot analysis with oligonucleotide probes complementary to the most common [beta]-thalassemia mutations in the Mediterranean at-risk populations. The mutation which remained uncharacterized by this approach were defined by denaturing gradient gel electrophoresis (DGGE) followed by direct sequence analysis on amplified DNA. The authors reconfirmed that the predominant mutation in the Sardinian population is the codon 39 nonsense mutation, which accounts for 95.7% of the [beta]-thalassemia chromosomes. The other two relatively commonmore » mutations are frameshifts at codon 6 (2.1%) and at codon 76 (0.7%), relatively uncommon in other Mediterranean-origin populations. In this study they have detected a novel [beta]-thalassemia mutation, i.e., a frameshift at codon 1, in three [beta]-thalassemia chromosomes. The DGGE procedure followed by direct sequencing on amplified DNA is a powerful approach for the characterization of unknown mutations in this genetic system.« less

Cutaneous Squamous Cell Carcinoma With Sclerosing Features: An Uncommon and Potentially Aggressive Variant.

PubMed

Ronen, Shira; Gru, Alejandro A; Noland, Mary M; Rowe, David M; Wick, Mark R

2018-05-08

Sclerosing squamous cell carcinoma (SCC), also known as "desmoplastic" SCC, is a rare subtype of cutaneous malignancy. This variant is clinically significant because it is associated with an increased risk of local recurrence and metastasis. We herein present 16 examples of sclerotic SCC of the skin in 8 men and 3 women, with a median age of 66 years. The most common site of origin for this tumor is the skin of the head and neck, including the scalp (5 tumors in 2 different patients), forehead (3 cases), nasal ala (2 cases), neck (2 cases in the same patient), ear (2 cases), cheek (1 case), and chest (1 case). Microscopically, sclerosing SCCs are characterized by cellular cords, nests, and islands, as well as scattered single cells infiltrating densely desmoplastic and collagenized connective tissue. The differential diagnosis principally includes sclerosing basal cell carcinoma, microcystic adnexal carcinoma, and desmoplastic trichoepithelioma. The main goals of this study are to further characterize these lesions pathologically, and increase general awareness of this SCC subtype.

Assessment of jaundice in the hospitalized patient.

PubMed

Kathpalia, Priya; Ahn, Joseph

2015-02-01

Jaundice in the hospitalized patient is not an uncommon consultation for the general gastroenterologist. It is essential to explore the underlying cause of jaundice because management is largely aimed at addressing these causes rather than the jaundice itself. Although the diagnostic evaluation for jaundice can be broad, clinical judgment must be used to prioritize between various laboratory tests and imaging studies. Most importantly, clinicians must understand which conditions are emergent and/or require evaluation for liver transplantation. Further studies need to be performed to better understand the outcomes of hospitalized patients who develop jaundice. Copyright © 2015 Elsevier Inc. All rights reserved.

Mucocele of the cystic duct remnant after orthotopic liver transplant: a problem revisited.

PubMed

Chatterjee, Suvadip; Das, Debasish; Hudson, Mark; Bassendine, Margaret Fiona; Scott, John; Oppong, Kofi Ernest; Sen, Gourab; French, Jeremy J

2011-06-01

Mucocele of the cystic duct remnant is an uncommon hepatobiliary complication of a liver transplant. Current practice usually involves either excising the cystic duct, or incorporating the distal end of the transected cystic duct into the suture line of the biliary anastomosis to ensure drainage. We report a patient who developed cystic duct remnant mucocele after the latter approach was adopted. We believe that this is likely related to delayed anastomotic stricturing, which prevented draining from the remnant cystic duct. We also discuss the incidence, pathology, investigations, and treatment of this condition.

Cloacolith in a blue-fronted amazon parrot (Amazona aestiva).

PubMed

Beaufrère, Hugues; Nevarez, Javier; Tully, Thomas N

2010-06-01

A 4-year-old blue-fronted Amazon parrot (Amazona aestiva) was admitted for vocalization secondary to constipation. Saline infusion cloacoscopy revealed the presence of a 2-cm-diameter cloacolith within the coprodeum that was obstructing the rectal opening. The cloacolith was fragmented with a pair of biopsy forceps and the pieces removed. The cloacolith was subsequently analyzed and was composed of 100% uric acid salts. The bird improved completely and was able to defecate normally after the procedure. Cloacoliths are relative uncommon cloacal conditions, and this case documents cloacoscopic findings, rectal obstruction, and confirmation of its uric acid composition by urolith analysis.

Malignancy Associated Iatrogenic Iliopsoas Abscess -Venous Access Complication From Ablation Procedure.

PubMed

Iskandar, Sandia; Atoui, Moustapha; Rizwan Afzal, Muhammad; Lavu, Madhav; Reddy, Madhu; Lakkireddy, Dhanunjaya

2016-01-01

Iliopsoas abscess is a rare condition with a high rate of mortality and morbidity if left untreated. It can occur from hematogenous or lymphatic spread from distant structures or as a result of contiguous spread from adjacent structures. The disease typically occurs in patients with immunocompromised status and the symptoms can be non-specific.1,2 Generally, infectious complications from venous access during atrial fibrillation (AF) procedure are uncommon, and an iatrogenic iliopsoas abscess from percutaneous cardiac procedures has never been reported. We present the first case of iliopsoas abscess from an ablation procedure.

Focal metatarsal fistulae syndrome affecting a greyhound dog successfully treated with topical 0.1% tacrolimus ointment.

PubMed

Scholz, Fiona M; Muse, Russell; Burrows, Amanda K

2015-12-01

Metatarsal fistulation is an uncommon cutaneous condition reported almost exclusively in German shepherd dogs and their cross-breeds. To the best of the authors' knowledge this is the first reported case of focal metatarsal fistulae syndrome affecting a greyhound. Remission was obtained within 6 weeks of commencing treatment using compounded 0.1% tacrolimus ointment twice daily and the dog remained stable for another 6 months with twice weekly application before treatment was discontinued. The dog remained in remission at the time of writing, which is 1 year after treatment withdrawal. © 2015 ESVD and ACVD.

Current thinking about acute compartment syndrome of the lower extremity

PubMed Central

Shadgan, Babak; Menon, Matthew; Sanders, David; Berry, Gregg; Martin, Claude; Duffy, Paul; Stephen, David; O’Brien, Peter J.

2010-01-01

Acute compartment syndrome of the lower extremity is a clinical condition that, although uncommon, is seen fairly regularly in modern orthopedic practice. The pathophysiology of the disorder has been extensively described and is well known to physicians who care for patients with musculoskeletal injuries. The diagnosis, however, is often difficult to make. In this article, we review the clinical risk factors of acute compartment syndrome of the lower extremity, identify the current concepts of diagnosis and discuss appropriate treatment plans. We also describe the Canadian medicolegal environment in regard to compartment syndrome of the lower extremity. PMID:20858378

Life-threatening hemothorax due to azygos vein rupture after chest compression during cardiopulmonary resuscitation.

PubMed

Yang, Euiseok; Jeong, WonJoon; Lee, JunWan; Kim, SeungWhan

2014-11-01

Hemothorax is not an uncommon cardiopulmonary resuscitation(CPR)–related complication. But hemothorax related to azygos vein injury (AVI) is a rare condition following blunt chest trauma, with no report of CPR-related AVI in the literature. We present a case of azygosve in rupture in a middle-aged woman after repeated chest compression during 1 hour of CPR. She eventually presented with massive hemothorax due to azygos vein rupture diagnosed by computed tomography (CT). When faced with a patient with massive hemothorax after chest compression, azygos vein rupture should be considered as a complication.

Tinea capitis caused by Trichophyton rubrum mimicking favus.

PubMed

Boyd, Alan S

2016-12-01

Favus is an uncommon form of tinea capitis (TC) currently seen in geographic areas with poor sanitation and limited access to health care such as emerging nations. Several variants of this condition have been described including one exhibiting a plaque composed of parchmentlike material. The makeup of this plaque has not been described. Tinea capitis is rare in adults, particularly when the infectious agent is Trichophyton rubrum , and affected patients often exhibit comorbidities associated with diminished immune surveillance. This case report describes an elderly woman with TC due to T rubrum mimicking a rare form of favus.

Eosinophilic cellulitis (Wells’ syndrome) caused by a temporary henna tattoo

PubMed Central

Celegen, Mehmet; Karkıner, Canan Sule Unsal; Günay, Ilker; Diniz, Güllden; Can, Demet

2014-01-01

Eosinophilic cellulitis (Wells’ syndrome) is an uncommon condition of unknown etiology. Wells’ syndrome is usually seen in adulthood but very rare in childhood. Although pathogenesis of the disease is not very clear, it is a hypersensitivity reaction developing against a variety of exogenous and endogenous antigenic stimuli. Paraphenylenediamine is a strong allergen frequently used as a temporary henna tattoo, which makes the color darker. Here, a 9-year-old male patient with Wells’ syndrome is presented, which developed following a temporary henna tattoo and shown by the patch test sensitivity to paraphenylenediamine. PMID:25395929

Partial segmental thrombosis of the corpus cavernosum: imaging findings.

PubMed

Moya-Sánchez, E; Medina-Benítez, A; Medina-Salas, V; Fernández-Navarro, L

2018-03-05

Partial segmental thrombosis of the corpus cavernosum is an unusual clinical condition of unknown origin that mainly affects young males, whose characteristic presentation is the appearance of unexplained perineal pain associated with a palpable perineal mass. This entity consists of thrombosis in the perineal portion of the corpus cavernosum, usually unilateral and it is associated with underlying malignant pathologies and predisposing factors such as microtrauma. After the adequate adherence to conservative treatment, the appearance of complications such as erectile dysfunction is very uncommon. Copyright © 2018 SERAM. Publicado por Elsevier España, S.L.U. All rights reserved.

[Ultrasonography of the lower urethra in male sheep lambs].

PubMed

AlLugami, Ammar; von Pückler, Kerstin; Sickinger, Marlene

2018-06-01

In male small ruminants, voiding disturbances are not uncommon. A precise knowledge of the underlying disease is essential for prognostic evaluation as well as for a decision concerning the therapeutic approach. Common reasons for voiding disturbances in the male small ruminant are obstructive urolithiasis, traumata of the penis or inflammatory processes within the urethra or urinary bladder. The diagnostic method of choice - in addition to clinical examination - is diagnostic imaging. Because radiology is not always possible under field conditions, the aim of this article is a detailed presentation of ultrasonography of the distal urethra of the male lamb. Schattauer GmbH.

Cloacal impaction with cloacolith in a black-legged seriema (Chunga burmeisteri)

PubMed Central

Di Nucci, Dante Luis; Falzone, Martin Pablo

2017-01-01

A 5-year-old intact female black-legged seriema (Chunga burmeisteri) was presented for behavioral changes and slight decrease in activity (minor vocalization and less mobility in enclosure). Physical examination revealed a firm, moderate dilation in the caudal coelom. A semi-spherical mass of greater radiodensity than soft tissues was observed in the region of the cloaca on radiographs. A cloacolith measuring approximately 4x3.7x3 cm was extracted manually. Cloacoliths are uncommon conditions in birds, and this case is the first record of cloacolith in Chunga burmeisteri. PMID:29392119

Sport-Related Portal Vein Thrombosis: An Unusual Complication

PubMed Central

Tankosic, Nikola; Stojkovic Lalosevic, Milica

2017-01-01

Portal vein thrombosis (PVT) is an uncommon condition usually associated with hypercoagulable states or liver cirrhosis. PVT due to sports-related injuries is rarely reported and, to the best of our knowledge, only two cases have been reported thus far. Brazilian jiu-jitsu (BJJ) is a form of martial arts and is considered very safe with minimal risk for injury. It has growing popularity worldwide. Here, we report the first case of PVT secondary to abdominal trauma related to the practice of (BJJ) in an otherwise healthy 32-year-old man with no other traditional risk factors for PVT. PMID:29259831

Sport-Related Portal Vein Thrombosis: An Unusual Complication.

PubMed

Dumic, Igor; Tankosic, Nikola; Stojkovic Lalosevic, Milica; Alempijevic, Tamara

2017-01-01

Portal vein thrombosis (PVT) is an uncommon condition usually associated with hypercoagulable states or liver cirrhosis. PVT due to sports-related injuries is rarely reported and, to the best of our knowledge, only two cases have been reported thus far. Brazilian jiu-jitsu (BJJ) is a form of martial arts and is considered very safe with minimal risk for injury. It has growing popularity worldwide. Here, we report the first case of PVT secondary to abdominal trauma related to the practice of (BJJ) in an otherwise healthy 32-year-old man with no other traditional risk factors for PVT.

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

Spinal Anaesthesia is Safe in a Patient with Wolff-Parkinson-White Syndrome Undergoing Evacuation of Molar Pregnancy.

PubMed

Deviseti, Pravalika; Pujari, Vinayak S

2016-02-01

Wolff-Parkinson-White (WPW) syndrome is an uncommon cardiac condition where there is an abnormal band of atrial tissue connecting atria and ventricles which can electrically bypass atrioventricular node. The anaesthetic management in these patients is challenging as life threatening complications can occur perioperatively like paroxysmal supraventricular tachycardia and atrial fibrillation. Also, regional anaesthetic technique like subarachnoid block is a safe and cost effective alternative to general anaesthesia as it avoids polypharmacy. We report the successful anaesthetic management of Wolff Parkinson White syndrome in a primi with hydatiform mole posted for suction and evacuation.

Umbilical hernia masking primary umbilical endometriosis - a case report.

PubMed

Brătilă, Elvira; Ionescu, Oana Maria; Badiu, Dumitru Cristinel; Berceanu, Costin; Vlădăreanu, Simona; Pop, Doina Mihaela; MehedinŢu, Claudia

2016-01-01

Endometriosis is a gynecologic condition affecting mainly the pelvic organs. However, extrapelvic endometriosis has been reported in almost all parts of the body. Umbilical endometriosis, either primary or secondary, is uncommon and has a documented neoplastic risk. We present the case of a 46-year-old woman with a large umbilical hernia associating primary umbilical endometriosis discovered during surgery and confirmed later by pathological and immunohistochemical exams. The patient underwent omphalectomy and partial omentum resection, alongside with mesh abdominal wall repair. The patient was informed about the recurrence risk and was asymptomatic at follow-up consults.

A systematic review of presacral extramedullary haematopoiesis: a diagnosis to be considered for presacral masses.

PubMed

Zhou, P P; Clark, E; Kapadia, M R

2016-11-01

Presacral masses are uncommon and have malignant potential; treatment typically includes surgical excision. However, there are conditions such as extramedullary haematopoiesis (EMH) which are benign. The present study aimed to summarize the presentation of presacral EMH in our institution, to review the literature and to offer management strategies for this rare condition. The literature was searched for articles related to presacral EMH, and case reports were collected from articles meeting the inclusion criteria. We collected data on patient demographics, diagnostic investigation, management and the results of treatment. Thirty-nine patients were included in the systematic review. Initial imaging included computed tomography (CT), magnetic resonance imaging (MRI) or ultrasound (US) suggestive of EMH. Some patients then underwent a technetium scan (n = 7, 18%), biopsy of the presacral lesion (n = 27, 69%) or excision of the entire mass (n = 3, 8%). All patients who underwent technetium scan were confirmed to have EMH, demonstrating enhancement similar to bone marrow. Patients who underwent technetium scan and presacral mass biopsy had concordant results confirming presacral EMH (n = 5, 13%). Data on management were available for 35/39 (90%) with most patients followed by clinical observation (n = 20, 51%). Symptomatic patients were treated with radiotherapy (15%), surgical excision (15%) or hydroxyurea (5%) and blood transfusions (10%). Most (81%, n = 17/21) patients whose outcome was reported remained asymptomatic or experienced pain relief. Although uncommon, EMH should be considered in the differential diagnosis of a presacral mass. Presacral EMH is a benign condition that can be suspected on CT or MRI and confirmed with technetium scan. Patients may not necessarily need to undergo biopsy to confirm haematopoietic elements. Unlike other presacral masses, patients diagnosed with presacral EMH can be managed by observation. If symptomatic, radiotherapy or surgical excision may be offered. Colorectal Disease © 2016 The Association of Coloproctology of Great Britain and Ireland.

Hepatic rupture

PubMed Central

Zhang, Liang; Wan, DaLong; Zhang, LeLe; Xu, ShiGuo; Xie, HaiYang; Lin, ShengZhang

2018-01-01

Abstract Rationale: Currently, percutaneous catheter drainage (PCD) is regarded as the first-line treatment modality of pyogenic liver abscess. Severe complications associated with PCD were uncommon. Hepatic rupture is an uncommon but life-threatening liver trauma with high mortality. Its management is challenging because a delay in the diagnosis may lead to fatal hemorrhagic shock. To our knowledge, PCD-associated hepatic rupture has never been reported. Patient concerns: We report herein a rare case of PCD-associated hepatic rupture. Its clinical courses and our therapeutic approaches are presented. Moreover, the clinical significance, underlying causes, and current views on severe liver trauma management will be discussed briefly. Diagnoses: A diabetic patient suffering from fever and malaise was diagnosed with a pyogenic liver abscess. PCD was performed because intravenous antibiotics were ineffective. The patient developed a liver rupture following PCD, with clinical and imaging confirmation but without further progression. Interventions: Surgical repair and vascular intervention were both inappropriate. As a result, medical treatments with supportive care were adopted and were found to be effective. Outcomes: The patient's condition improved gradually, with stabilized imaging and laboratory performance. He recovered uneventfully during follow-ups. Lessons: Hepatic rupture should be listed as an extremely rare but severe complication of PCD. Immediate suspicion and effective intervention may avoid an unfavorable consequence. PMID:29480839

Semimembranosus Tendinopathy

PubMed Central

Bylund, William E.; de Weber, Kevin

2010-01-01

Context: Semimembranosus tendinopathy (SMT) is an uncommon cause of chronic knee pain that is rarely described in the medical literature and may be underdiagnosed or inadequately treated owing to a lack of understanding of the condition. Evidence Acquisition: A search of the entire PubMed (MEDLINE) database using the terms knee pain semimembranosus and knee tendinitis semimembranosus, returned only 5 references about SMT—4 case series and 1 case report—and several relevant anatomical or imaging references. Results: The incidence of SMT is unknown in the athletic population and is probably more common in older patients. The usual presentation for SMT is aching posteromedial knee pain. Physical examination can usually localize the area of tenderness to the distal semimembranosus tendon or its insertion on the medial proximal tibia. In unclear cases, bone scan, magnetic resonance imaging, or ultrasound may distinguish SMT from other causes of posteromedial knee pain. Treatment should begin with relative rest, ice, nonsteroidal anti-inflammatory drugs, and rehabilitative exercise. In the minority of cases that persist greater than 3 months, a corticosteroid injection at the tendon insertion site may be effective. Surgery to reroute and reattach the tendon is rarely needed but may be effective. Conclusion: SMT is an uncommon cause of knee pain, but timely diagnosis can lead to effective treatments. PMID:23015963

Cardiac output increases prior to development of pulmonary edema after re-expansion of spontaneous pneumothorax.

PubMed

Tan, H C; Mak, K H; Johan, A; Wang, Y T; Poh, S C

2002-06-01

Pulmonary edema following reexpansion of spontaneous pneumothorax is an uncommon complication. The underlying mechanism of this condition is unclear. We report the hemodynamic characteristics in a series of 7 male patients with spontaneous large (>50%) pneumothoraces of > or = 24 h and correlate the changes with reexpansion pulmonary edema (REPE). A pulmonary artery floatation catheter was inserted and hemodynamic data were obtained before therapeutic chest tube insertion, 1 h after chest tube insertion and the following day. Four (57%) patients developed REPE. There was a tendency for larger pneumothorax to develop REPE. Capillary wedge pressure did not change significantly 1 h after the insertion of chest tube in all our patients. Cardiac output increased significantly in patients who developed REPE compared to those who did not (+ 1.06 l/min vs -0.27 l/min; P = 0.03) 1 h after insertion of chest tube. One patient did not develop pulmonary edema despite having a large (> 80%) pneumothorax. His cardiac output did not rise 1 h after chest tube insertion. REPE is not an uncommon complication following chest tube drainage in patients with large and long-standing pneumothorax. The increase in cardiac output after chest tube insertion may be associated with subsequent development of REPE.

Frequency and Acceptability of Adverse Events After Anterior Cervical Discectomy and Fusion: A Survey Study From the Cervical Spine Research Society.

PubMed

Wilson, Jefferson R; Radcliff, Kris; Schroeder, Gregory; Booth, Madison; Lucasti, Christopher; Fehlings, Michael; Ahmad, Nassr; Vaccaro, Alexander; Arnold, Paul; Sciubba, Daniel; Ching, Alex; Smith, Justin; Shaffrey, Christopher; Singh, Kern; Darden, Bruce; Daffner, Scott; Cheng, Ivan; Ghogawala, Zoher; Ludwig, Steven; Buchowski, Jacob; Brodke, Darrel; Wang, Jeffrey; Lehman, Ronald A; Hilibrand, Alan; Yoon, Tim; Grauer, Jonathan; Dailey, Andrew; Steinmetz, Michael; Harrop, James S

2018-06-01

Anterior cervical discectomy and fusion has a low but well-established profile of adverse events. The goal of this study was to gauge surgeon opinion regarding the frequency and acceptability of these events. A 2-page survey was distributed to attendees at the 2015 Cervical Spine Research Society (CSRS) meeting. Respondents were asked to categorize 18 anterior cervical discectomy and fusion-related adverse events as either: "common and acceptable," "uncommon and acceptable," "uncommon and sometimes acceptable," or "uncommon and unacceptable." Results were compiled to generate the relative frequency of these responses for each complication. Responses for each complication event were also compared between respondents based on practice location (US vs. non-US), primary specialty (orthopedics vs. neurosurgery) and years in practice. Of 150 surveys distributed, 115 responses were received (76.7% response rate), with the majority of respondents found to be US-based (71.3%) orthopedic surgeons (82.6%). Wrong level surgery, esophageal injury, retained drain, and spinal cord injury were considered by most to be unacceptable and uncommon complications. Dysphagia and adjacent segment disease occurred most often, but were deemed acceptable complications. Although surgeon experience and primary specialty had little impact on responses, practice location was found to significantly influence responses for 12 of 18 complications, with non-US surgeons found to categorize events more toward the uncommon and unacceptable end of the spectrum as compared with US surgeons. These results serve to aid communication and transparency within the field of spine surgery, and will help to inform future quality improvement and best practice initiatives.

[Uncommon non-fermenting Gram-negative rods as pathogens of lower respiratory tract infection].

PubMed

Juhász, Emese; Iván, Miklós; Pongrácz, Júlia; Kristóf, Katalin

2018-01-01

Glucose non-fermenting Gram-negative bacteria are ubiquitous environmental organisms. Most of them are identified as opportunistic, nosocomial pathogens in patients. Uncommon species are identified accurately, mainly due to the introduction of matrix-assisted laser desorption-ionization time of flight mass spectrometry (MALDI-TOF MS) in clinical microbiology practice. Most of these uncommon non-fermenting rods are isolated from lower respiratory tract samples. Their significance in lower respiratory tract infections, such as rules of their testing are not clarified yet. The aim of this study was to review the clinical microbiological features of these bacteria, especially their roles in lower respiratory tract infections and antibiotic treatment options. Lower respiratory tract samples of 3589 patients collected in a four-year period (2013-2016) were analyzed retrospectively at Semmelweis University (Budapest, Hungary). Identification of bacteria was performed by MALDI-TOF MS, the antibiotic susceptibility was tested by disk diffusion method. Stenotrophomonas maltophilia was revealed to be the second, whereas Acinetobacter baumannii the third most common non-fermenting rod in lower respiratory tract samples, behind the most common Pseudomonas aeruginosa. The total number of uncommon non-fermenting Gram-negative isolates was 742. Twenty-three percent of isolates were Achromobacter xylosoxidans. Beside Chryseobacterium, Rhizobium, Delftia, Elizabethkingia, Ralstonia and Ochrobactrum species, and few other uncommon species were identified among our isolates. The accurate identification of this species is obligatory, while most of them show intrinsic resistance to aminoglycosides. Resistance to ceftazidime, cefepime, piperacillin-tazobactam and carbapenems was frequently observed also. Ciprofloxacin, levofloxacin and trimethoprim-sulfamethoxazole were found to be the most effective antibiotic agents. Orv Hetil. 2018; 159(1): 23-30.

Characterization of amygdalin-degrading Lactobacillus species.

PubMed

Menon, R; Munjal, N; Sturino, J M

2015-02-01

Cyanogenic glycosides are phytotoxic secondary metabolites produced by some crop plants. The aim of this study was to identify lactic acid bacteria (LAB) capable of catabolizing amygdalin, a model cyanogenic glycoside, for use in the biodetoxification of amygdalin-containing foods and feeds. Amygdalin-catabolizing lactobacilli were characterized using a combination of cultivation-dependent and molecular assays. Lactobacillus paraplantarum and Lactobacillus plantarum grew robustly on amygdalin (Amg(+)), while other LAB species typically failed to catabolize amygdalin (Amg(-)). Interestingly, high concentrations of amygdalin and two of its metabolic derivatives (mandelonitrile and benzaldehyde) inhibited the growth of Lact. plantarum RENO 0093. The differential regulation of genes tentatively involved in cyanohydrin metabolism illustrated that the metabolism of amygdalin- and glucose-grown cultures also differed significantly. Amygdalin fermentation was a relatively uncommon phenotype among the LAB and generally limited to strains from the Lact. plantarum group. Phenotype microarrays (PM) enabled strain-level discrimination between closely related strains within a species and suggested that phenotypic differences might affect niche specialization. Amygdalin-degrading lactobacilli with practical application in the biodetoxification of amygdalin were characterized. These strains show potential for use as starter cultures to improve the safety of foods and feeds. © 2014 The Society for Applied Microbiology.

Headache with autonomic features in a child: cluster headache or contact-point headache?

PubMed

Mishra, Devendra; Choudhury, Krishna Kant; Gupta, Alok

2008-03-01

Headache and facial pain due to diseases of the nose and sinuses are not uncommon in children. However, nasal contact-point associated with headache is relatively uncommon and has unclear etiological significance. We herein report a child having headache with autonomic features and contact-point in the nose, and discuss the difficulties in diagnostic categorization.

Uncommon acute neurologic presentation of canine distemper in 4 adult dogs.

PubMed

Galán, Alba; Gamito, Araceli; Carletti, Beatrice E; Guisado, Alicia; de las Mulas, Juana Martín; Pérez, José; Martín, Eva M

2014-04-01

Four uncommon cases of canine distemper (CD) were diagnosed in vaccinated adult dogs. All dogs had acute onset of neurologic signs, including seizures, abnormal mentation, ataxia, and proprioceptive deficits. Polymerase chain reaction for CD virus was positive on cerebrospinal fluid in 2 cases. Due to rapid deterioration the dogs were euthanized and CD was confirmed by postmortem examination.

Uncommon acute neurologic presentation of canine distemper in 4 adult dogs

PubMed Central

Galán, Alba; Gamito, Araceli; Carletti, Beatrice E.; Guisado, Alicia; de las Mulas, Juana Martín; Pérez, José; Martín, Eva M.

2014-01-01

Four uncommon cases of canine distemper (CD) were diagnosed in vaccinated adult dogs. All dogs had acute onset of neurologic signs, including seizures, abnormal mentation, ataxia, and proprioceptive deficits. Polymerase chain reaction for CD virus was positive on cerebrospinal fluid in 2 cases. Due to rapid deterioration the dogs were euthanized and CD was confirmed by postmortem examination. PMID:24688139

A SURVEY OF INTENSIVE PROGRAMS IN THE UNCOMMON LANGUAGES, SUMMER 1962.

ERIC Educational Resources Information Center

HOENIGSWALD, HENRY M.; AND OTHERS

THIS REPORT ON INTENSIVE COURSES IN THE UNCOMMON LANGUAGES CONDUCTED AT 22 AMERICAN COLLEGES AND UNIVERSITIES DURING THE SUMMER OF 1962 IS THE RESULT OF A SURVEY UNDERTAKEN BY H.M. HOENIGSWALD OF THE UNIVERSITY OF PENNSYLVANIA, R.B. NOSS OF THE FOREIGN SERVICE INSTITUTE, AND E.N. MCCARUS AND J.K. YAMAGIWA OF THE UNIVERSITY OF MICHIGAN. (BY…

Moral identity and the experience of moral elevation in response to acts of uncommon goodness.

PubMed

Aquino, Karl; McFerran, Brent; Laven, Marjorie

2011-04-01

Four studies using survey and experimental designs examined whether people whose moral identity is highly self-defining are more susceptible to experiencing a state of moral elevation after being exposed to acts of uncommon moral goodness. Moral elevation consists of a suite of responses that motivate prosocial action tendencies. Study 1 showed that people higher (vs. lower) in moral identity centrality reported experiencing more intense elevating emotions, had more positive views of humanity, and were more desirous of becoming a better person after reading about an act of uncommon goodness than about a merely positive situation or an act of common benevolence. Study 2 showed that those high in moral identity centrality were more likely to recall acts of moral goodness and experience moral elevation in response to such events more strongly. These experiences were positively related to self-reported prosocial behavior. Study 3 showed a direct effect on behavior using manipulated, rather than measured, moral identity centrality. Study 4 replicated the effect of moral identity on the states of elevation as well as on self-reported physical sensations and showed that the elevation mediates the relationship between moral identity, witnessing uncommon goodness, and prosocial behavior.

D-lactic acidosis in humans: systematic literature review.

PubMed

Bianchetti, Davide G A M; Amelio, Giacomo S; Lava, Sebastiano A G; Bianchetti, Mario G; Simonetti, Giacomo D; Agostoni, Carlo; Fossali, Emilio F; Milani, Gregorio P

2018-04-01

D-lactic acidosis is an uncommon and challenging form of metabolic acidosis that may develop in short bowel syndrome. It has been documented exclusively in case reports and small case series. We performed a review of the literature in the National Library of Medicine and Excerpta Medica databases. We identified 84 original reports published between 1977 and 2017. D-lactic acidosis was observed in 98 individuals ranging in age from 7 months to 86 years with short bowel syndrome. The clinical presentation included Kussmaul breathing, confusion, slurred speech, and gait disturbances. Furthermore, among 99 consecutive patients with short bowel syndrome, 21 reported having episodes with symptoms consistent with D-lactic acidosis. In addition, D-lactic acid might also contribute to acidosis in diabetes mellitus. Finally, abnormally high D-lactic acid was documented after administration or ingestion of large amounts of propylene glycol, as paraneoplastic phenomenon and perhaps also in a so far poorly characterized inherited inborn error of metabolism. In humans with short bowel syndrome (or carbohydrate malabsorption), D-lactic acidosis is likely rather common and under-recognized. This condition should be included in the differential diagnosis of unexplained high-gap metabolic acidosis where the anion causing the acidosis is not known. Furthermore, diabetic acidosis might be caused by accumulation of both ketone bodies and D-lactic acid. Finally, there are endogenous sources of D-lactic acid in subjects with propylene glycol intoxication.

Nitric-oxide Synthase Forms N-NO-pterin and S-NO-Cys

PubMed Central

Rosenfeld, Robin J.; Bonaventura, Joseph; Szymczyna, Blair R.; MacCoss, Michael J.; Arvai, Andrew S.; Yates, John R.; Tainer, John A.; Getzoff, Elizabeth D.

2010-01-01

Inducible nitric-oxide synthase (iNOS) produces biologically stressful levels of nitric oxide (NO) as a potent mediator of cellular cytotoxicity or signaling. Yet, how this nitrosative stress affects iNOS function in vivo is poorly understood. Here we define two specific non-heme iNOS nitrosation sites discovered by combining UV-visible spectroscopy, chemiluminescence, mass spectrometry, and x-ray crystallography. We detected auto-S-nitrosylation during enzymatic turnover by using chemiluminescence. Selective S-nitrosylation of the ZnS4 site, which bridges the dimer interface, promoted a dimer-destabilizing order-to-disorder transition. The nitrosated iNOS crystal structure revealed an unexpected N-NO modification on the pterin cofactor. Furthermore, the structurally defined N-NO moiety is solvent-exposed and available to transfer NO to a partner. We investigated glutathione (GSH) as a potential transnitrosation partner because the intracellular GSH concentration is high and NOS can form S-nitrosoglutathione. Our computational results predicted a GSH binding site adjacent to the N-NO-pterin. Moreover, we detected GSH binding to iNOS with saturation transfer difference NMR spectroscopy. Collectively, these observations resolve previous paradoxes regarding this uncommon pterin cofactor in NOS and suggest means for regulating iNOS activity via N-NO-pterin and S-NO-Cys modifications. The iNOS self-nitrosation characterized here appears appropriate to help control NO production in response to cellular conditions. PMID:20659888

Chemiluminescence of neutrophils from patients with Behçet's disease and its correlation with an increased proportion of uncommon serotypes of Streptococcus sanguis in the oral flora.

PubMed

Isogai, E; Ohno, S; Kotake, S; Isogai, H; Tsurumizu, T; Fujii, N; Yokota, K; Syuto, B; Yamaguchi, M; Matsuda, H

1990-01-01

Zymosan-induced chemiluminescence was investigated in whole blood and in neutrophils: in both, the peak count was frequently elevated in Behçet's disease, and was significantly higher than in healthy controls; similarly the peak time was shorter. There were more uncommon serotypes of Streptococcus sanguis in the oral flora of patients with Behçet's disease. Common serotypes were present in the flora of healthy controls, but not in patients with the disease. The percentage of Strep. sanguis in the oral flora was significantly correlated with the level of chemiluminescence response. Thus infection with uncommon serotypes of Strep. sanguis may play a role in the aetiology of Behçet's disease.

Gorlin-Goltz Syndrome: An Uncommon Cause of Facial Pain and Asymmetry.

PubMed

Pickrell, Brent B; Nguyen, Harrison P; Buchanan, Edward P

2015-10-01

Gorlin-Goltz syndrome is an underdiagnosed autosomal dominant disorder with variable expressivity that is characterized by an increased predisposition to tumorigenesis of multiple types. The major clinical features include multiple basal cell carcinomas (BCCs) appearing in early childhood, palmar and plantar pits, odontogenic keratocysts of the oral cavity, skeletal defects, craniofacial dysmorphism, and ectopic intracranial calcification. The authors present the clinical course of a 12-year-old girl presenting with facial asymmetry and pain because of previously undiagnosed Gorlin-Goltz syndrome. Early diagnosis and attentive management by a multidisciplinary team are paramount to improving outcomes in patients with this disorder, and this report serves as a paradigm for maintaining a high clinical suspicion, which must be accompanied by an appropriate radiologic workup.

Trichotillomania: a good response to treatment with N-acetylcysteine.

PubMed

Barroso, Livia Ariane Lopes; Sternberg, Flavia; Souza, Maria Natalia Inacio de Fraia E; Nunes, Gisele Jacobino de Barros

2017-01-01

Trichotillomania is considered a behavioral disorder and is characterized by the recurring habit of pulling one's hair, resulting in secondary alopecia. It affects 1% of the adult population, and 2 to 4.4% of psychiatric patients meet the diagnostic criteria. It can occur at any age and is more prevalent in adolescents and females. Its occurrence in childhood is not uncommon and tends to have a more favorable clinical course. The scalp, eyebrows and eyelashes are the most commonly affected sites. Glutamate modulating agents, such as N-acetylcysteine, have been shown to be a promising treatment. N-acetylcysteine acts by reducing oxidative stress and normalizing glutaminergic transmission. In this paper, we report a case of trichotillomania with an excellent response to N-acetylcysteine.

Whole genome characterization of a naturally occurring vancomycin-dependent Enterococcus faecium from a patient with bacteremia.

PubMed

Mitchell, Stephanie L; Mattei, Lisa M; Alby, Kevin

2017-08-01

Vancomycin-dependent enterococci are a relatively uncommon phenotype recovered in the clinical laboratory. Recognition and recovery of these isolates are important, to provide accurate identification and susceptibility information to treating physicians. Herein, we describe the recovery of a vancomycin-dependent and revertant E. faecium isolates harboring vanB operon from a patient with bacteremia. Using whole genome sequencing, we found a unique single nucleotide polymorphism (S186N) in the D-Ala-D-Ala ligase (ddl) conferring vancomycin-dependency. Additionally, we found that a majority of in vitro revertants mutated outside ddl, with some strains harboring mutations in vanS, while others likely containing novel mechanisms of reversion. Copyright © 2017 Elsevier B.V. All rights reserved.

Neuropsychiatric Manifestations of Scrub Typhus.

PubMed

Mahajan, Sanjay K; Mahajan, Sanyam K

2017-01-01

Scrub typhus is caused by Orientia tsutsugamushi characterized by focal or disseminated vasculitis and perivasculitis which may involve the lungs, heart, liver, spleen and central nervous system. It was thought to have been eradicated from India. Recently it is being reported from many areas of India. The clinical picture and severity of the symptoms varies widely. The neurological manifestations of scrub typhus are not uncommon but are diverse. Meningoencephalitis is classical manifestation of scrub typhus but cerebellitis, cranial nerve palsies, plexopathy, transverse myelitis, neuroleptic malignant syndrome and Guillan-Barré syndrome are other manifestations reported in literature. The availability of literature on the neurological manifestations of scrub typhus is limited to case reports mainly. This article reviews various neurological manifestations of scrub typhus reported in literature.

Neuropsychiatric Manifestations of Scrub Typhus

PubMed Central

Mahajan, Sanjay K.; Mahajan, Sanyam K.

2017-01-01

Scrub typhus is caused by Orientia tsutsugamushi characterized by focal or disseminated vasculitis and perivasculitis which may involve the lungs, heart, liver, spleen and central nervous system. It was thought to have been eradicated from India. Recently it is being reported from many areas of India. The clinical picture and severity of the symptoms varies widely. The neurological manifestations of scrub typhus are not uncommon but are diverse. Meningoencephalitis is classical manifestation of scrub typhus but cerebellitis, cranial nerve palsies, plexopathy, transverse myelitis, neuroleptic malignant syndrome and Guillan-Barré syndrome are other manifestations reported in literature. The availability of literature on the neurological manifestations of scrub typhus is limited to case reports mainly. This article reviews various neurological manifestations of scrub typhus reported in literature. PMID:28694624

Isolated lacrimal gland involvement in Rosai-Dorfman-Destombes disease

PubMed Central

Bhalla, Sunita; Srivastava, Amit

2008-01-01

Rosai-Dorfman-Destombes (sinus histiocytosis with massive lymphadenopathy) disease is an uncommon disease characterized by benign proliferation of histiocytes, with painless lymph node enlargement and frequent extranodal disease. Orbital involvement occurs in 9-11% of cases. However, isolated Rosai- Dorfman-Destombes disease of the lacrimal gland without any systemic involvement is very rare with only three case reports. We describe here one such young male patient with unilateral lacrimal gland swelling. Excision biopsy revealed almost complete replacement of the lacrimal gland by lymphocytes, plasma cells and large pale histiocytes. The latter exhibited emperipolesis and stained positive for S-100 and CD68 on immunohistochemistry. Patient is well and has no other manifestation or recurrence of the disease during a follow-up of 24 months. PMID:18974525

Esophageal achalasia compressing left atrium diagnosed by echocardiography using a liquid containing carbon dioxide in a 21-year-old woman with Turner syndrome.

PubMed

Park, Man Je; Song, Bong Gun; Lee, Hyoun Soo; Kim, Ki Hoon; Ok, Hea Sung; Kim, Byeong Ki; Park, Yong Hwan; Kang, Gu Hyun; Chun, Woo Jung; Oh, Ju Hyeon

2012-01-01

Extrinsic compression of the left atrium by the esophagus, the stomach, or both is an uncommon but important cause of hemodynamic compromise. Achalasia is a motility disorder characterized by impaired relaxation of the lower esophageal sphincter and dilatation of the distal two thirds of the esophagus. Echocardiographic imaging after oral ingestion of liquid containing carbon dioxide allowed for differentiation between a compressive vascular structure and the esophagus. We report a rare case of esophageal achalasia compressing the left atrium diagnosed by echocardiography using a liquid containing carbon dioxide in a 21-year-old woman with Turner syndrome. Copyright © 2012 Elsevier Inc. All rights reserved.

Acquired perforating dermatosis: a report of 8 cases.

PubMed

González-Lara, L; Gómez-Bernal, S; Vázquez-López, F; Vivanco-Allende, B

2014-01-01

Acquired perforating dermatosis (APD) is an uncommon disease characterized by lesions exhibiting transepidermal elimination of collagen or elastic fibers. APD affects adults and is associated with systemic diseases, mainly diabetes mellitus and renal failure. We present 8 cases of APD. Seven patients had concomitant diabetes mellitus with or without chronic renal failure, and 1 had alcoholic cirrhosis. In the patients with chronic renal failure, the onset of APD coincided with transient worsening of renal function. The mean increase in creatinine concentrations above baseline was 1.14mg/dL. Acute deterioration of renal function may be involved in APD. Further studies are needed to investigate this association. Copyright © 2013 Elsevier España, S.L. y AEDV. All rights reserved.

Massive dedifferentiated chondrosarcoma affecting whole mandible with high recurrence potential

PubMed Central

Mishra, Niranjan; Singh, Akhilesh Kumar; Agrawal, Rahul; Singh, Shreya

2015-01-01

Chondrosarcomas (CS) are slow-growing, malignant mesenchymal tumors characterized by the formation of cartilage by the tumor cells. Benign cartilage-producing tumors within the jaws are extremely uncommon, but most ultimately prove to represent low-grade CS. In the maxillofacial region, the maxilla is more commonly affected than the mandible, it comprises less than 2% of all jaw tumors. Clinically, the tumor presents as a swelling that may be painful and cause loosening of the involved teeth, with widening of the periodontal ligament space. The treatment of such lesions is wide surgical excision with regular follow up. The present report discusses the case of a 55-year-old female patient with massive multiple recurring dedifferentiated CS of mandible. PMID:27390502

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.

Congenital sideroblastic anemia due to mutations in the mitochondrial HSP70 homologue HSPA9

PubMed Central

Schmitz-Abe, Klaus; Ciesielski, Szymon J.; Schmidt, Paul J.; Campagna, Dean R.; Rahimov, Fedik; Schilke, Brenda A.; Cuijpers, Marloes; Rieneck, Klaus; Lausen, Birgitte; Linenberger, Michael L.; Sendamarai, Anoop K.; Guo, Chaoshe; Hofmann, Inga; Newburger, Peter E.; Matthews, Dana; Shimamura, Akiko; Snijders, Pieter J. L. M.; Towne, Meghan C.; Niemeyer, Charlotte M.; Watson, Henry G.; Dziegiel, Morten H.; Heeney, Matthew M.; May, Alison; Bottomley, Sylvia S.; Swinkels, Dorine W.; Markianos, Kyriacos; Craig, Elizabeth A.

2015-01-01

The congenital sideroblastic anemias (CSAs) are relatively uncommon diseases characterized by defects in mitochondrial heme synthesis, iron-sulfur (Fe-S) cluster biogenesis, or protein synthesis. Here we demonstrate that mutations in HSPA9, a mitochondrial HSP70 homolog located in the chromosome 5q deletion syndrome 5q33 critical deletion interval and involved in mitochondrial Fe-S biogenesis, result in CSA inherited as an autosomal recessive trait. In a fraction of patients with just 1 severe loss-of-function allele, expression of the clinical phenotype is associated with a common coding single nucleotide polymorphism in trans that correlates with reduced messenger RNA expression and results in a pseudodominant pattern of inheritance. PMID:26491070

Plica Polonica in a Patient on Chemotherapy: A Case Report with Review of Literature

PubMed Central

Gupta, Savera; Kumar, Ramesh; Vijay, Anita; Jain, Suresh Kumar

2017-01-01

Plica polonica (plica neuropathica) is an uncommon entity characterized by irreversible twisting and matting of hair resulting in a hard impermeable mass of keratin. Although the exact mechanism is not fully understood, it has been attribute to longitudinal splitting or weathering of hair shaft due to vigorous friction and frequent use of harsh shampoos and harsh cleansers and/or due to keeping long hair with poor hair care or neglect, parasitic infection. We describe an unusual case of plica polonica occurring in a patient of lung adenocarcinoma on chemotherapy and review the literature. Anagen effluvium due to chemotherapy (paclitaxel and carboplatin) and use of an uncustomary shampoo by the patient are the causative factors for matting of the hair. PMID:28932066

Extramedullary (EMP) relapse in unusual locations in multiple myeloma: Is there an association with precedent thalidomide administration and a correlation of special biological features with treatment and outcome?

PubMed

Katodritou, E; Gastari, V; Verrou, E; Hadjiaggelidou, C; Varthaliti, M; Georgiadou, S; Laschos, K; Xirou, P; Yiannaki, E; Constantinou, N; Markala, D; Zervas, K

2009-08-01

Extramedullary relapse constitutes an uncommon manifestation of multiple myeloma (MM), characterized by highly malignant histology, special biological features, resistance to treatment and poor outcome. Its incidence has been increased during the last years, probably due to the introduction of novel strategies in the management of MM, including intensified treatment and immunomodulatory drugs. Here we report nine cases of extramedullary relapse of MM, presented in unusual locations, seven of which had previously been treated with thalidomide-containing regimens (TCR). Our aim was to explore the morphological, immunophenotypical, molecular and laboratory characteristics accompanying EMP-relapse and seek possible correlations with treatment and clinical outcome.

Heliotropiumides A and B, new phenolamides with N-carbamoyl putrescine moiety from Heliotropium foertherianum collected in Hawaii and their biological activities.

PubMed

Cai, You-Sheng; Sarotti, Ariel M; Gündisch, Daniela; Kondratyuk, Tamara P; Pezzuto, John M; Turkson, James; Cao, Shugeng

2017-10-15

Two new compounds heliotropiumides A (1) and B (2), phenolamides each with an uncommon carbamoyl putrescine moiety, were isolated from the seeds of a naturalized Hawaiian higher plant, Heliotropium foertherianum Diane & Hilger in the borage family, which is widely used for the treatment of ciguatera fish poisoning. The structures of compounds 1 and 2 were characterized based on MS spectroscopic and NMR analysis, and DP4+ calculations. The absolute configuration (AC) of compound 1 was determined by comparison of its optical rotation with those reported in literature. Compound 2 showed inhibition against NF-κB with an IC 50 value of 36μM. Copyright © 2017 Elsevier Ltd. All rights reserved.

Heavy and Light chain amyloidosois presenting as complete heart block: A rare presentation of a rare disease.

PubMed

Priyamvada, P S; Morkhandikar, S; Srinivas, B H; Parameswaran, S

2015-01-01

Amyloidosis is an uncommon disease characterized by deposition of proteinaceous material in the extracellular matrix, which results from abnormal protein folding. Even though more than 25 precursor proteins are identified, majority of systemic amyloidosis results from deposition of abnormal immunoglobulin (Ig) light chains. In heavy chain amyloidosis (AH), deposits are derived from both heavy chain alone, whereas in heavy and light chain amyloidosis (AHL), the deposits are derived from Ig heavy chains and light chains. Both AH and AHL are extremely rare diseases. Here, we report an unusual presentation of IgG (lambda) AHL amyloidosis in the background of multiple myeloma, where the initial clinical presentation was complete heart block, which preceded the definitive diagnosis by 18 months.

Temporary resolution of foveal schisis following vitrectomy with silicon oil tamponade in X-linked retinoschisis with retinal detachment

PubMed Central

Goel, Neha; Ghosh, Basudeb

2015-01-01

X-linked retinoschisis (XLR) is an uncommon bilateral vitreoretinal dystrophy characterized by typical foveoschisis in all patients that may be associated with peripheral retinoschisis. A young male with XLR with retinal detachment in his right eye underwent 23 gauge pars plana vitrectomy with silicone oil tamponade. Postoperatively, best-corrected visual acuity (BCVA) improved to 20/120 with an attached retina. Spectral-domain optical coherence tomography showed macular thinning with the collapse of the schitic cavities with silicone oil in situ. Following silicone oil removal at 6 months follow-up, the retina remained attached with a BCVA of 20/80 however the foveal schitic cavities reappeared. This unusual course has not been described previously. PMID:26669343

Recommendations for physical activity and recreational sports participation for young patients with genetic cardiovascular diseases.

PubMed

Maron, Barry J; Chaitman, Bernard R; Ackerman, Michael J; Bayés de Luna, Antonio; Corrado, Domenico; Crosson, Jane E; Deal, Barbara J; Driscoll, David J; Estes, N A Mark; Araújo, Claudio Gil S; Liang, David H; Mitten, Matthew J; Myerburg, Robert J; Pelliccia, Antonio; Thompson, Paul D; Towbin, Jeffrey A; Van Camp, Steven P

2004-06-08

A group of relatively uncommon but important genetic cardiovascular diseases (GCVDs) are associated with increased risk for sudden cardiac death during exercise, including hypertrophic cardiomyopathy, long-QT syndrome, Marfan syndrome, and arrhythmogenic right ventricular cardiomyopathy. These conditions, characterized by diverse phenotypic expression and genetic substrates, account for a substantial proportion of unexpected and usually arrhythmia-based fatal events during adolescence and young adulthood. Guidelines are in place governing eligibility and disqualification criteria for competitive athletes with these GCVDs (eg, Bethesda Conference No. 26 and its update as Bethesda Conference No. 36 in 2005). However, similar systematic recommendations for the much larger population of patients with GCVD who are not trained athletes, but nevertheless wish to participate in any of a variety of recreational physical activities and sports, have not been available. The practicing clinician is frequently confronted with the dilemma of designing noncompetitive exercise programs for athletes with GCVD after disqualification from competition, as well as for those patients with such conditions who do not aspire to organized sports. Indeed, many asymptomatic (or mildly symptomatic) patients with GCVD desire a physically active lifestyle with participation in recreational and leisure-time activities to take advantage of the many documented benefits of exercise. However, to date, no reference document has been available for ascertaining which types of physical activity could be regarded as either prudent or inadvisable in these subgroups of patients. Therefore, given this clear and present need, this American Heart Association consensus document was constituted, based largely on the experience and insights of the expert panel, to offer recommendations governing recreational exercise for patients with known GCVDs.

Pediatric cervical spondylolysis and American football.

PubMed

Alton, Timothy B; Patel, Amit M; Lee, Michael J; Chapman, Jens R

2014-06-01

Cervical spondylolysis (CS) is a rare condition and is even more uncommon in pediatric patients. It is characterized by a disruption of the articular mass at the junction of the superior and inferior facet joints and often is diagnosed incidentally. The C6 level is most commonly involved, and the cause of CS remains unknown. There are no recommendations in the literature regarding activity modification in patients with CS and no discussion as to risks of participation in American football or other contact sports. To report a case of C6 bilateral cervical spondylolysis with bicuspid spinous process and to discuss radiographic/clinical findings and issues related to participation in contact sports and minimizing the risk of spinal cord injury. Case report with 6 months clinical/radiographic follow-up Radiographic description, clinical findings, and current review of the literature. A pediatric patient presented with a bilateral C6 cervical spondylolysis and bicuspid spinous process after an American football-related minor cervical spine trauma. Findings on radiographs indicated that the spondylolysis appeared to be chronic in nature, without evidence of instability. The patient and his family were educated on ways to decrease the risk of spinal cord injury with contact sports, after which the patient was allowed to participate fully in sports without restrictions or adverse events. Pediatric cervical spondylolysis is a rare condition, the cause of which remains debated. Although there is theoretical risk, more than 1.5 million youth participate in American football annually, and there have been no reported cases of significant spinal cord injury in patients with CS from football or other contact sports. Copyright © 2014 Elsevier Inc. All rights reserved.

Delayed Ejaculation: Pathophysiology, Diagnosis, and Treatment

PubMed Central

2018-01-01

Delayed ejaculation (DE) is a poorly defined and uncommon form of male sexual dysfunction, characterized by a marked delay in ejaculation or an inability to achieve ejaculation. It is often quite concerning to patients and their partners, and sometimes frustrates couples' attempts to conceive. This article aims to review the pathophysiology of DE and anejaculation (AE), to explore our current understanding of the diagnosis, and to present the treatment options for this condition. Electronic databases were searched from 1966 to October 2017, including PubMed (MEDLINE) and Embase. We combined “delayed ejaculation,” “retarded ejaculation,” “inhibited ejaculation,” or “anejaculation” as Medical Subject Headings (MeSH) terms or keywords with “epidemiology,” “etiology,” “pathophysiology,” “clinical assessment,” “diagnosis,” or “treatment.” Relevant sexual medicine textbooks were searched as well. The literature suggests that the pathophysiology of DE/AE is multifactorial, including both organic and psychosocial factors. Despite the many publications on this condition, the exact pathogenesis is not yet known. There is currently no single gold standard for diagnosing DE/AE, as operationalized criteria do not exist. The history is the key to the diagnosis. Treatment should be cause-specific. There are many approaches to treatment planning, including various psychological interventions, pharmacotherapy, and specific treatments for infertile men. An approved form of drug therapy does not exist. A number of approaches can be employed for infertile men, including the collection of nocturnal emissions, prostatic massage, prostatic urethra catheterization, penile vibratory stimulation, probe electroejaculation, sperm retrieval by aspiration from either the vas deferens or the epididymis, and testicular sperm extraction. PMID:29299903

State of the Art: Clinical Applications of Cardiac T1 Mapping.

PubMed

Schelbert, Erik B; Messroghli, Daniel R

2016-03-01

While cardiovascular magnetic resonance (MR) has become the noninvasive tool of choice for the assessment of myocardial viability and for the detection of acute myocardial edema, cardiac T1 mapping is believed to further extend the ability of cardiovascular MR to characterize the myocardium. Fundamentally, cardiovascular MR can improve diagnosis of disease that historically has been challenging to establish with other imaging modalities. For example, decreased native T1 values appear highly specific to detect and quantify disease severity related to myocardial iron overload states or glycosphingolipid accumulation in Anderson-Fabry disease, whereas high native T1 values are observed with edema, amyloid, and other conditions. Cardiovascular MR can also improve the assessment of prognosis with parameters that relate to myocardial structure and composition that complement the familiar functional parameters around which contemporary cardiology decision making revolves. In large cohorts, extracellular volume fraction (ECV) has been shown to quantify the full extent of myocardial fibrosis in noninfarcted myocardium. ECV may predict outcomes at least as effectively as left ventricular ejection fraction. This uncommon statistical observation (of potentially being more strongly associated with outcomes than ejection fraction) suggests prime biologic importance for the cardiac interstitium that may rank highly in the hierarchy of vast myocardial changes occurring in cardiac pathophysiology. This article presents current and developing clinical applications of cardiac T1 mapping and reviews the existing evidence on their diagnostic and prognostic value in various clinical conditions. This article also contextualizes these advances and explores how T1 mapping and ECV may affect major "global" issues such as diagnosis of disease, risk stratification, and paradigms of disease, and ultimately how we conceptualize patient vulnerability.

Streptococcal emm types in Hawaii: a region with high incidence of acute rheumatic fever.

PubMed

Erdem, Guliz; Mizumoto, Carla; Esaki, David; Abe, Lucienne; Reddy, Venu; Effler, Paul V

2009-01-01

The clinical epidemiology of group A streptococcal (GAS) infections in Hawaii seems different from that in the continental United States with frequent skin infections and endemically high rates of acute rheumatic fever (ARF). GAS emm types in Hawaii were determined to identify any possible association between the emm types and specific clinical manifestations. A convenience sample of 1482 Hawaii GAS isolates collected between February 2000 and December 2005 was used. All isolates were characterized by emm sequence typing. The distribution of emm types in Hawaii was compared with the published continental US data for pharyngeal and invasive GAS strains, the CDC database from similar time periods, as well as with emm types present in a candidate GAS vaccine. Ninety-three distinct emm types were recognized among the 1482 GAS isolates. The most frequently identified emm types in order of decreasing frequency were 12, 1, 28, 4, 22, 77, 81, 58, 65/69, 49, 74, 85, 92, 75, 101 and 2. Of this study sample, 27 of the 50 invasive GAS isolates belonged to uncommon continental US emm types (54% in Hawaii cultures vs. 10% reported from the continental US). Of the 1179 pharyngeal isolates, 509 belonged uncommon continental US emm types (43% in Hawaii cultures vs. 27% reported from the continental US). The prevalent emm types in Hawaii differ from those in the continental US. The prevalence of these unusual emm types might limit the effectiveness of any proposed multivalent type-specific GAS vaccine in Hawaii.

Geode of the femur: an uncommon manifestation potentially reflecting the pathogenesis of rheumatoid arthritis.

PubMed

Lee, Wonuk; Terk, Michael R; Hu, Bing; Garber, Elayne K; Weisman, Michael H

2006-12-01

Geodes are noted frequently in rheumatoid arthritis (RA), but large geodes of the femur are uncommon. We describe a patient with RA and a large geode in his femur; histological findings were consistent with a rheumatoid nodule and chronically inflamed synovium. We review the literature of large femoral geodes and what this particular manifestation may reflect about the pathogenesis of RA.

5-Oxoproline as a cause of high anion gap metabolic acidosis: an uncommon cause with common risk factors.

PubMed

Kortmann, W; van Agtmael, M A; van Diessen, J; Kanen, B L J; Jakobs, C; Nanayakkara, P W B

2008-09-01

High anion gap metabolic acidosis might be caused by 5-oxoproline (pyroglutamic acid). As it is very easy to treat, it might be worth drawing attention to this uncommon and probably often overlooked diagnosis. We present three cases of high anion gap metabolic acidosis due to 5-oxoproline seen within a period of six months.

Languages of Sub-Saharan Africa. A Survey of Materials for the Study of the Uncommonly Taught Languages.

ERIC Educational Resources Information Center

Johnson, Dora E.; And Others

This is an annotated bibliography of basic tools of access for the study of the uncommonly taught languages of Sub-Saharan Africa. It is one of eight fascicles which constitute a revision of "A Provisional Survey of Materials for the Study of the Neglected Languages" (CAL 1969). The emphasis is on materials for the adult learner whose…

The rabbit blood-shunt model for the study of acute and late sequelae of subarachnoid hemorrhage: technical aspects.

PubMed

Andereggen, Lukas; Neuschmelting, Volker; von Gunten, Michael; Widmer, Hans Rudolf; Takala, Jukka; Jakob, Stephan M; Fandino, Javier; Marbacher, Serge

2014-10-02

Early brain injury and delayed cerebral vasospasm both contribute to unfavorable outcomes after subarachnoid hemorrhage (SAH). Reproducible and controllable animal models that simulate both conditions are presently uncommon. Therefore, new models are needed in order to mimic human pathophysiological conditions resulting from SAH. This report describes the technical nuances of a rabbit blood-shunt SAH model that enables control of intracerebral pressure (ICP). An extracorporeal shunt is placed between the arterial system and the subarachnoid space, which enables examiner-independent SAH in a closed cranium. Step-by-step procedural instructions and necessary equipment are described, as well as technical considerations to produce the model with minimal mortality and morbidity. Important details required for successful surgical creation of this robust, simple and consistent ICP-controlled SAH rabbit model are described.

Orofacial pain: a guide for the headache physician.

PubMed

Shephard, Martina K; Macgregor, E Anne; Zakrzewska, Joanna M

2014-01-01

Orofacial pain represents a significant burden in terms of morbidity and health service utilization. It includes very common disorders such as toothache and temporomandibular disorders, as well as rare orofacial pain syndromes. Many orofacial pain conditions have overlapping presentations, and diagnostic uncertainty is frequently encountered in clinical practice. This review provides a clinically orientated overview of common and uncommon orofacial pain presentations and diagnoses, with an emphasis on conditions that may be unfamiliar to the headache physician. A holistic approach to orofacial pain management is important, and the social, cultural, psychological and cognitive context of each patient needs to be considered in the process of diagnostic formulation, as well as in the development of a pain management plan according to the biopsychosocial model. Recognition of psychological comorbidities will assist in diagnosis and management planning. © 2013 American Headache Society.

Uncommon Indications for Reverse Total Shoulder Arthroplasty

PubMed Central

Hyun, Yoon Suk; Huri, Gazi; Garbis, Nickolas G.

2013-01-01

Total shoulder arthroplasty and shoulder hemiarthroplasty have been the traditional method for treating a variety of shoulder conditions, including arthritis, cuff tear arthropathy, and some fracture types. However, these procedures did not provide consistently good results for patients with torn rotator cuffs. The development of the reverse prosthesis by Grammont in the late 20th century revolutionized the treatment of the rotator-cuff-deficient shoulder with arthritis. The main indication for the reverse prosthesis remains the patient with cuff tear arthropathy who has pain and loss of motion. Because the reverse total shoulder arthroplasty produced such good results in these patients, the indications for the reverse prosthesis have expanded to include other shoulder conditions that have previously been difficult to treat successfully and predictably. This review discusses and critically reviews these newer indications for the reverse total shoulder arthroplasty. PMID:24340143

Cerebro-rhino orbital mucormycosis: an update.

PubMed

Wali, Upender; Balkhair, Abdullah; Al-Mujaini, Abdullah

2012-04-01

Mucormycosis is an uncommon fungal infection which can lead to fulminant necrotizing infection under optimal host condition. Fungi have the ability to invade blood vessels and can affect different parts of the body. The most common, though the most aggressive, form is cerebro-rhino-orbital mucormycosis that occurs in debilitated patients, in conjunction with sinus or para-sinus involvement. Due to increased number of newly diagnosed cases of mucormycosis world-wide resulting from uncontrolled metabolic conditions, this paper intends to widen the reader's scope and knowledge about the nature of the disease and its multicomplexity that require a collaborative effort for careful management. Patients who are at risks both at the onset of the disease and during its management have been identified in the paper. Copyright © 2012 King Saud Bin Abdulaziz University for Health Sciences. Published by Elsevier Ltd. All rights reserved.

Mammary and extramammary Paget's disease

PubMed Central

Lloyd, J; Flanagan, A

2000-01-01

Mammary and extramammary Paget's disease are uncommon intraepithelial adenocarcinomas. Both conditions have similar clinical features, which mimic inflammatory and infective diseases. Histological diagnostic confusion can arise between Paget's disease and other neoplastic conditions affecting the skin, with the most common differential diagnoses being malignant melanoma and atypical squamous disease. The glandular differentiation of both mammary Paget's disease and extramammary Paget's disease is indicated by morphological appearances, the presence of intracellular mucin in many cases, and positive immunohistochemical staining for glandular cytokeratins, epithelial membrane antigen, and carcinoembryonic antigen. This article provides an overview of mammary and extramammary Paget's disease and discusses recent evidence regarding the cell of origin. The concepts of primary and secondary Paget's disease are presented and the differential diagnosis is discussed with reference to immunohistochemical markers that might be of diagnostic value. Key Words: mammary Paget's disease • extramammary Paget's disease PMID:11064666

Uncommon EGFR mutations in cytological specimens of 1,874 newly diagnosed Indonesian lung cancer patients

PubMed Central

Syahruddin, Elisna; Wulandari, Laksmi; Sri Muktiati, Nunuk; Rima, Ana; Soeroso, Noni; Ermayanti, Sabrina; Levi, Michael; Hidajat, Heriawaty; Widjajahakim, Grace; Utomo, Ahmad Rusdan Handoyo

2018-01-01

Purpose We aimed to evaluate the distribution of individual epidermal growth factor receptor (EGFR) mutation subtypes found in routine cytological specimens. Patients and methods A retrospective audit was performed on EGFR testing results of 1,874 consecutive cytological samples of newly diagnosed or treatment-naïve Indonesian lung cancer patients (years 2015–2016). Testing was performed by ISO15189 accredited central laboratory. Results Overall test failure rate was 5.1%, with the highest failure (7.1%) observed in pleural effusion and lowest (1.6%) in needle aspiration samples. EGFR mutation frequency was 44.4%. Tyrosine kinase inhibitor (TKI)-sensitive common EGFR mutations (ins/dels exon 19, L858R) and uncommon mutations (G719X, T790M, L861Q) contributed 57.1% and 29%, respectively. Approximately 13.9% of mutation-positive patients carried a mixture of common and uncommon mutations. Women had higher EGFR mutation rate (52.9%) vs men (39.1%; p<0.05). In contrast, uncommon mutations conferring either TKI responsive (G719X, L861Q) or TKI resistance (T790M, exon 20 insertions) were consistently more frequent in men than in women (67.3% vs 32.7% or 69.4% vs 30.6%; p<0.05). Up to 10% EGFR mutation–positive patients had baseline single mutation T790M, exon 20 insertion, or in coexistence with TKI-sensitive mutations. Up to 9% patients had complex or multiple EGFR mutations, whereby 48.7% patients harbored TKI-resistant mutations. One patient presented third-generation TKI-resistant mutation L792F simultaneously with T790M. Conclusion Routine diagnostic cytological techniques yielded similar success rate to detect EGFR mutations. Uncommon EGFR mutations were frequent events in Indonesian lung cancer patients. PMID:29615847

Uncommon EGFR mutations in cytological specimens of 1,874 newly diagnosed Indonesian lung cancer patients.

PubMed

Syahruddin, Elisna; Wulandari, Laksmi; Sri Muktiati, Nunuk; Rima, Ana; Soeroso, Noni; Ermayanti, Sabrina; Levi, Michael; Hidajat, Heriawaty; Widjajahakim, Grace; Utomo, Ahmad Rusdan Handoyo

2018-01-01

We aimed to evaluate the distribution of individual epidermal growth factor receptor ( EGFR ) mutation subtypes found in routine cytological specimens. A retrospective audit was performed on EGFR testing results of 1,874 consecutive cytological samples of newly diagnosed or treatment-naïve Indonesian lung cancer patients (years 2015-2016). Testing was performed by ISO15189 accredited central laboratory. Overall test failure rate was 5.1%, with the highest failure (7.1%) observed in pleural effusion and lowest (1.6%) in needle aspiration samples. EGFR mutation frequency was 44.4%. Tyrosine kinase inhibitor (TKI)-sensitive common EGFR mutations (ins/dels exon 19, L858R) and uncommon mutations (G719X, T790M, L861Q) contributed 57.1% and 29%, respectively. Approximately 13.9% of mutation-positive patients carried a mixture of common and uncommon mutations. Women had higher EGFR mutation rate (52.9%) vs men (39.1%; p <0.05). In contrast, uncommon mutations conferring either TKI responsive (G719X, L861Q) or TKI resistance (T790M, exon 20 insertions) were consistently more frequent in men than in women (67.3% vs 32.7% or 69.4% vs 30.6%; p <0.05). Up to 10% EGFR mutation-positive patients had baseline single mutation T790M, exon 20 insertion, or in coexistence with TKI-sensitive mutations. Up to 9% patients had complex or multiple EGFR mutations, whereby 48.7% patients harbored TKI-resistant mutations. One patient presented third-generation TKI-resistant mutation L792F simultaneously with T790M. Routine diagnostic cytological techniques yielded similar success rate to detect EGFR mutations. Uncommon EGFR mutations were frequent events in Indonesian lung cancer patients.

Αn uncommon coexistence of primary sexual, cough and exercise headaches: the first three cases from Greece.

PubMed

Bougea, A; Constantinides, V; Anagnostou, E; Kararizou, E

2015-01-01

The "other primary headaches" encompasses a group of uncommon but distinct headache disorders. The coexistence of their subforms such as primary sexual and exercise headache is not a new phenomenon, but in association with cough headache is rather uncommon. Report of cases: We report three cases with a rare coexistence of primary cough, exercise and associated with sexual activity headache. Indomethacin was effective in all patients. The leading pathophysiological explanation involves a rapid rise in intra-abdominal pressure exertional factors or an inappropriate reaction in the cerebral vasculature. Further studies are needed to confirm a common pathogenic mechanism in these patients. Τhe coexistence of these headaches needs to be taken into account in the final classification that is expected to be available in 2016. Hippokratia 2015; 19 (4): 369-371.

Continuous-time model of structural balance

PubMed Central

Marvel, Seth A.; Kleinberg, Jon; Kleinberg, Robert D.; Strogatz, Steven H.

2011-01-01

It is not uncommon for certain social networks to divide into two opposing camps in response to stress. This happens, for example, in networks of political parties during winner-takes-all elections, in networks of companies competing to establish technical standards, and in networks of nations faced with mounting threats of war. A simple model for these two-sided separations is the dynamical system dX/dt = X2, where X is a matrix of the friendliness or unfriendliness between pairs of nodes in the network. Previous simulations suggested that only two types of behavior were possible for this system: Either all relationships become friendly or two hostile factions emerge. Here we prove that for generic initial conditions, these are indeed the only possible outcomes. Our analysis yields a closed-form expression for faction membership as a function of the initial conditions and implies that the initial amount of friendliness in large social networks (started from random initial conditions) determines whether they will end up in intractable conflict or global harmony. PMID:21199953

Continuous-time model of structural balance.

PubMed

Marvel, Seth A; Kleinberg, Jon; Kleinberg, Robert D; Strogatz, Steven H

2011-02-01

It is not uncommon for certain social networks to divide into two opposing camps in response to stress. This happens, for example, in networks of political parties during winner-takes-all elections, in networks of companies competing to establish technical standards, and in networks of nations faced with mounting threats of war. A simple model for these two-sided separations is the dynamical system dX/dt = X(2), where X is a matrix of the friendliness or unfriendliness between pairs of nodes in the network. Previous simulations suggested that only two types of behavior were possible for this system: Either all relationships become friendly or two hostile factions emerge. Here we prove that for generic initial conditions, these are indeed the only possible outcomes. Our analysis yields a closed-form expression for faction membership as a function of the initial conditions and implies that the initial amount of friendliness in large social networks (started from random initial conditions) determines whether they will end up in intractable conflict or global harmony.

A combined periodontal - prosthetic treatment approach to manage unusual gingival visibility in resting lip position and inversely inclined upper anterior teeth: a case report with discussion.

PubMed

Biniraj, K R; Janardhanan, Mahija; Sunil, M M; Sagir, Mohammed; Hariprasad, A; Paul, Tony P; Emmatty, Rishi

2015-03-01

Excessive gingival visibility during smile is a common esthetic complaint in dentistry, but excessive gingival visibility in resting lip position is relatively uncommon condition. Several exclusive radical to conservative surgical treatment or its combination with orthodontic therapy to treat this condition are within the reach of every patient nowadays. A case report of an excessive gingival visibility because of altered passive eruption along with inversely inclined maxillary anterior teeth is presented here. A relatively simple treatment approach combining periodontal and restorative therapy is used here to achieve the desirable aesthetic results. The gingival exposure resulting from altered passive eruption was completely managed by a gingivectomy, but the inclined appearance of teeth was still an aesthetic complaint. After complete healing of gingivectomy surgery, appropriately designed crowns were given to rectify the inversely inclined appearance. A complete rehabilitation of patient's smile could be achieved, the case was followed up for 3 years and the condition was found satisfactory.

The changing face of pediatric hypertension in the era of the childhood obesity epidemic.

PubMed

Flynn, Joseph

2013-07-01

Historically, hypertension in childhood was thought to be an uncommon diagnosis, usually related to an underlying condition, most often parenchymal renal disease. Primary hypertension in childhood was felt to be quite rare. However, the worldwide childhood obesity epidemic has had a profound impact on the frequency of hypertension and other obesity-related conditions with the result that primary hypertension should now be viewed as one of the most common health conditions in the young. This review will present updated data on the prevalence of hypertension in children and adolescents, the impact of the childhood obesity epidemic on hypertension prevalence and blood pressure levels, shifts in how often primary hypertension is being diagnosed in childhood, and an overview of the pathophysiology of obesity-related hypertension. It is hoped that improved understanding of the significance of these issues will lead to improved recognition and treatment, which will be the key to averting an epidemic of cardiovascular disease in adulthood.

Congenital esophageal stenosis diagnosed in an infant at 9 month of age.

PubMed

Savino, F; Tarasco, V; Viola, S; Locatelli, E; Sorrenti, M; Barabino, A

2015-10-06

Esophageal stenosis is a relatively uncommon condition in pediatrics and requires an accurate diagnostic approach. Here we report the case of a 9-month old female infant who presented intermittent vomiting, dysphagia and refusal of solid foods starting after weaning. She was treated for gastroesophageal reflux. At first, radiological investigation suggested achalasia, while esophagoscopy revelaed a severe congenital esophageal stenosis at the distal third of the esophagus. She underwent four endoscopic balloon dilatations that then allowed her to swallow solid food with intermittent mild dysphagia. After 17 months of esomeprazole treatment off therapy impedance-pH monitoring was normal. At 29 months of follow-up the child is asymptomatic and eats without problems.Infants with dysphagia and refusal of solid foods may have undiagnosed medical conditions that need treatment. Many disorders can cause esophageal luminal stricture; in the pediatric age the most common are peptic or congenital. Careful assessment with endoscopy is needed to diagnose these conditions early and referral to a pediatric gastroenterologic unit may be necessary.

Languages of Southeast Asia and the Pacific. A Survey of Materials for the Study of the Uncommonly Taught Languages.

ERIC Educational Resources Information Center

Johnson, Dora E.; And Others

This is an annotated bibliography of basic tools of access for the study of the uncommonly taught languages of Southeast Asia and the Pacific. It is one of eight fascicles which constitute a revision of "A Provisional Survey of Materials for the Study of the Neglected Languages" (CAL 1969). The emphasis is on materials for the adult…

Languages of the Middle East and North Africa. A Survey of Materials for the Study of the Uncommonly Taught Languages.

ERIC Educational Resources Information Center

Johnson, Dora E.; And Others

This is an annotated bibliography of basic tools of access for the study of the uncommonly taught languages of the Middle East and North Africa. It is one of eight fascicles which constitute a revision of "A Provisional Survey of Materials for the Study of the Neglected Languages" (CAL 1969). The emphasis is on materials for the adult…

Healthcare-associated outbreaks due to Mucorales and other uncommon fungi.

PubMed

Davoudi, Setareh; Graviss, Linda S; Kontoyiannis, Dimitrios P

2015-07-01

Healthcare-associated outbreaks of fungal infections, especially with uncommon and emerging fungi, have become more frequent in the past decade. Here, we reviewed the history and definition of healthcare-associated outbreaks of uncommon fungal infections and discussed the principles of investigating, containing and treatment of these outbreaks. In case of these uncommon diseases, occurrence of two or more cases in a short period is considered as an outbreak. Contaminated medical devices and hospital environment are the major sources of these outbreaks. Care must be taken to differentiate a real infection from colonization or contamination. Defining and identifying cases, describing epidemiologic feature of cases, finding and controlling the source of the outbreak, treating patients, and managing asymptomatic exposed patients are main steps for outbreak elimination. These fungal outbreaks are not only difficult to detect but also hard to treat. Early initiation of appropriate antifungal therapy is strongly associated with improved outcomes in infected patients. Choice of antifungal drugs should be made based on spectrum, pharmacodynamic and pharmacokinetic characteristics and adverse effects of available drugs. Combination antifungal therapy and surgical intervention may be also helpful in selected cases. A multidisciplinary approach and close collaboration between all key partners are necessary for successful control of fungal outbreaks. © 2015 Stichting European Society for Clinical Investigation Journal Foundation.

A novel PTCH1 gene mutation in a pediatric patient associated multiple keratocystic odontogenic tumors of the jaws and Gorlin-Goltz syndrome.

PubMed

Ozcan, Gozde; Balta, Burhan; Sekerci, Ahmet Ercan; Etoz, Osman A; Martinuzzi, Claudia; Kara, Ozlem; Pastorino, Lorenza; Kocoglu, Fatma; Ulker, Omer; Erdogan, Murat

2016-01-01

Gorlin-Goltz syndrome (GGS) is an uncommon autosomal dominant inherited disorder which comprises the triad of basal cell carcinomas (BCCs), odontogenic keratocysts, and musculoskeletal malformations. Besides this triad, neurological, ophthalmic, endocrine, and genital manifestations are known to be variable. It is occasionally associated with aggressive BCC and internal malignancies. This report documents a case of GGS with a novel mutation in the PTCH1 gene in an 11-year-old child. The clinical, radiographic, histopathologic and molecular findings of this condition, and treatment are described, and a review of GGS was carried out.

Lightning can strike twice: an unlucky patient of neurological interest.

PubMed

Gilbee, Ebony S

2013-06-24

Poliomyelitis, once a worldwide epidemic, is becoming increasingly rare owing to the introduction of the polio vaccine in the 1950s. It is estimated that the number of cases of polio has reduced by 99% since the Global Polio Eradication Initiative (GPEI) started in 1988. Amyotrophic lateral sclerosis (ALS) is another relatively uncommon condition which also affects anterior horn cells with debilitating neurological, and deadly, consequences. An unusual case of an aggressive form of ALS developing in a 72-year-old patient with paralytic poliomyelitis in childhood is presented. Her initial presentation was puzzling, and our approach to the diagnostic dilemma is discussed.

Deaths Due to Accidental Air Conditioner Compressor Explosion: A Case Series.

PubMed

Behera, Chittaranjan; Bodwal, Jatin; Sikary, Asit K; Chauhan, Mohit Singh; Bijarnia, Manjul

2017-01-01

In an air-conditioning system, the compressor is a large electric pump that pressurizes the refrigerant gas as part of the process of turning it back into a liquid. The explosion of an air conditioner (AC) compressor is an uncommon event, and immediate death resulted from the blast effect is not reported in forensic literature. We report three such cases in which young AC mechanics were killed on the spot due to compressor blast, while repairing the domestic split AC unit. The autopsy findings, the circumstances leading to the explosion of the compressor, are discussed in this study. © 2016 American Academy of Forensic Sciences.

Methemoglobinemia and benzocaine.

PubMed

Moos, Daniel D; Cuddeford, James D

2007-01-01

Benzocaine administration to facilitate upper endoscopic procedures can result in the relatively uncommon but potentially fatal complication known as methemoglobinemia. For this reason, the Veterans Health Administration (VA) announced on February 8, 2006, that they would stop using benzocaine-containing sprays for procedures involving the mouth and throat. Methemoglobinemia should be considered in any patient who demonstrates cyanosis, respiratory distress, headache, lightheadedness, and a dark, chocolate-colored blood after receiving pharyngeal anesthesia. Prompt recognition of this rare (but potentially fatal) condition is important. Once identified, treatment is generally rapid with methylene blue. The patient should be monitored in the intensive care setting for recurrence. Knowledge of this adverse medication reaction is essential for all gastroenterology nurses.

First Branchial Cleft Malformation with Duplication of External Auditory Canal

PubMed Central

Parida, Pradipta Kumar; Raja, Kalairasi; Surianarayanan, Gopalakrishnan; Ganeshan, Sivaraman

2013-01-01

First branchial cleft anomalies are uncommon, accounting for less than 10% of all branchial abnormalities. Their rare occurrence and varied presentation have frequently led to misdiagnosis and inadequate and inappropriate treatment of these conditions leading to repeated recurrences and secondary infection. In this paper, a case of 11-year girl with type 2 first branchial cleft defect is described. She first presented with a nonhealing ulcer of upper neck from childhood. Diagnosis had previously been missed and treated as tubercular ulcer. We confirmed the correct diagnosis by history and computerized tomography fistulogram. The lesion was completely excised with no further recurrence. PMID:24312740

Coexistence of systemic lupus erythematosus and multiple sclerosis. A case report and literature review.

PubMed

Jácome Sánchez, Elisa Carolina; García Castillo, María Ariana; González, Victor Paredes; Guillén López, Fernando; Correa Díaz, Edgar Patricio

2018-01-01

Multiple sclerosis (MS) and systemic lupus erythematous (SLE) are autoimmune diseases, the coexistence of which is uncommon in patients. Owing to the rarity of this condition, the distinction between MS and SLE is a diagnostic challenge for neurologists. We present a case report in which MS and SLE were present in the same patient. There are few case reports in the world on the association between MS and SLE. The following case report is the first of its kind in which both MS and SLE are present in a patient from a country with low prevalence of MS such as Ecuador.

An Unusual Reason for Gastric Variceal Hemorrhage: Wandering Spleen.

PubMed

Köseoğlu, Hüseyin; Atalay, Roni; Büyükaşık, Naciye Şemnur; Canyiğit, Murat; Özer, Mehmet; Solakoğlu, Tevfik; Akın, Fatma Ebru; Bolat, Aylin Demirezer; Yürekli, Öykü Tayfur; Ersoy, Osman

2015-12-01

Wandering spleen is the displacement of the spleen due to the loss or weakening of the ligaments of the spleen and is seen very rarely with an incidence of less than 0.5 %. It can cause portal hypertension, but gastric variceal hemorrhage is a quite rare condition within the spectrum of this uncommon disease. We report a 22-year-old woman with wandering spleen presenting with life-threatening gastric variceal hemorrhage. Her diagnosis was made by computerized tomography. Endoscopic therapy was not adequate to stop the bleeding, and urgent splenectomy was performed. After surgery she has been well with no symptoms until now.

Testicular myeloid sarcoma: case report.

PubMed

Zago, Luzia Beatriz Ribeiro; Ladeia, Antônio Alexandre Lisbôa; Etchebehere, Renata Margarida; de Oliveira, Leonardo Rodrigues

2013-01-01

Myeloid sarcomas are extramedullary solid tumors composed of immature granulocytic precursor cells. In association with acute myeloid leukemia and other myeloproliferative disorders, they may arise concurrently with compromised bone marrow related to acute myeloid leukemia, as a relapsed presentation, or occur as the first manifestation. The testicles are considered to be an uncommon site for myeloid sarcomas. No therapeutic strategy has been defined as best but may include chemotherapy, radiotherapy and/or hematopoietic stem cell transplantation. This study reports the evolution of a patient with testicular myeloid sarcoma as the first manifestation of acute myeloid leukemia. The patient initially refused medical treatment and died five months after the clinical condition started.

Hypersensitivity pneumonitis and related conditions in the work environment.

PubMed

Zacharisen, Michael C; Fink, Jordan N

2011-11-01

Hypersensitivity pneumonitis can occur from a wide variety of occupational exposures. Although uncommon and difficult to recognize, through a detailed work exposure history, physical examination, radiography, pulmonary function studies, and selected laboratory studies using sera and bronchoalveolar lavage fluid, workers can be identified early to effect avoidance of the antigen and institute pharmacologic therapy, if necessary. A lung biopsy may be necessary to rule out other interstitial lung diseases. Despite the varied organic antigen triggers, the presentation is similar with acute, subacute, or chronic forms. Systemic corticosteroids are the only reliable pharmacologic treatment but do not alter the long-term outcome. Copyright © 2011 Elsevier Inc. All rights reserved.

Endodontic management of a foreign body.

PubMed

Kalyan, Satish R; Sajjan, Girija

2010-07-01

The discovery of a foreign object embedded in a tooth is relatively uncommon. Some people have a habit of placing foreign objects to remove food plugs from the teeth. However, occasionally, these objects may be lodged in the teeth. These foreign objects may act as a potential source of infection and may later lead to a painful condition. A detailed case history, clinical, and radiographic examination is required to ascertain the size, position, and likely composition of the object, and also difficulty involved in its retrieval. This paper describes the successful retrieval of stapler pin located in the apical portion of root canal by simple orthograde nonsurgical technique.

Endodontic management of a foreign body

PubMed Central

Kalyan, Satish R.; Sajjan, Girija

2010-01-01

The discovery of a foreign object embedded in a tooth is relatively uncommon. Some people have a habit of placing foreign objects to remove food plugs from the teeth. However, occasionally, these objects may be lodged in the teeth. These foreign objects may act as a potential source of infection and may later lead to a painful condition. A detailed case history, clinical, and radiographic examination is required to ascertain the size, position, and likely composition of the object, and also difficulty involved in its retrieval. This paper describes the successful retrieval of stapler pin located in the apical portion of root canal by simple orthograde nonsurgical technique. PMID:22114412

[Dissociated nystagmus in side gaze. Major symptoms in the diagnosis of an internuclear ophthalmoplegia].

PubMed

Neugebauer, P; Neugebauer, A; Fricke, J; Michel, O

2004-07-01

A prerequisite for a qualified analysis of nystagmus is the recognition of uncommon forms of this condition. In internuclear ophthalmoplegia (INO), a dissociated nystagmus in side gaze is typical. This is accompanied by limited medial excursion of the adducted eye together with a dissociated nystagmus, which is stronger in the abducting fellow eye. This motility disturbance stems from a lesion in the medial longitudinal fasciculus running in the brain stem between the sixth and the third nerve nuclei. The lesion is often due to multiple sclerosis, but can also be ischemic, traumatic, neoplastic or inflammatory (e.g. HIV infection).

[How to screen for pheochromocytoma, primary aldosteronism and Cushing's syndrome].

PubMed

Meyer, Patrick

2009-01-07

Pheochromocytoma, primary aldosteronism and Cushing's syndrome are uncommon disorders and are difficult to diagnose because laboratory tests lack validation and specificity. Despite these limitations, practice guidelines are proposed to standardize the screening procedure. The most reliable method to diagnose pheochromocytoma is the measurement of plasmatic and/or urinary metanephrines and normetanephrines depending on the pre-test probability of the disease. The approach for detection of primary aldosteronism is based on the aldosterone-renin ratio under standard conditions. Finally, three tests are available to establish the diagnosis of Cushing's syndrome: 24-h urinary free cortisol excretion, low-dose dexamethasone suppression test and the recent and promising late evening salivary cortisol.

Lightning can strike twice: an unlucky patient of neurological interest

PubMed Central

Gilbee, Ebony S

2013-01-01

Poliomyelitis, once a worldwide epidemic, is becoming increasingly rare owing to the introduction of the polio vaccine in the 1950s. It is estimated that the number of cases of polio has reduced by 99% since the Global Polio Eradication Initiative (GPEI) started in 1988. Amyotrophic lateral sclerosis (ALS) is another relatively uncommon condition which also affects anterior horn cells with debilitating neurological, and deadly, consequences. An unusual case of an aggressive form of ALS developing in a 72-year-old patient with paralytic poliomyelitis in childhood is presented. Her initial presentation was puzzling, and our approach to the diagnostic dilemma is discussed. PMID:23814000

Intellectual disability complicated by sexual addiction: an uncommon presentation of a common condition.

PubMed

Pang, Nicholas Tze Ping; Masiran, Ruziana

2017-03-08

A young man presented with high libido for 3 years, associated with preoccupation with sexual thoughts combined with his pursuit of pornographic materials. He had strong psychological cravings for and had spent large amount of money on sex, resulting in a dispute with his family. There were no mood or psychotic symptoms. Medical history revealed recent diagnosis of gonococcal urethritis. Cognitive assessment showed subtle deficiencies in reasoning and executive functions. There was occasional use of alcohol. Sexual addiction with comorbid mild intellectual disability was diagnosed, and pharmacological as well as psychological management were started. 2017 BMJ Publishing Group Ltd.

[Ejaculatory disorders except premature ejaculation, orgasmic disorders].

PubMed

Rigot, J-M; Marcelli, F; Giuliano, F

2013-07-01

Disorders of ejaculation and orgasm apart from premature ejaculation are pretty uncommon. Medical literature was reviewed and combined with expert opinion of the authors. The semiology of these disorders is essential: aspermia, hypospermia, retrograde ejaculation, delayed or absent ejaculation with or without orgasm. Whether this is a lifelong or acquired condition, it is essential to assess the side-effects of medications i.e. psychotropic drugs, including antidepressant, neuroleptics, tramadol, alphablockers: tamsulosin and silodosin must always be surveyed. The management is often difficult, especially with a parenthood perspective. The management of lifelong disorders must rely on psychosexual therapies. Copyright © 2013 Elsevier Masson SAS. All rights reserved.

Epithelioid sarcoma: a diagnostic challenge.

PubMed

Pai, Kanthilatha K; Pai, Sathish B; Sripathi, H; Rao, Purnima

2006-01-01

Epithelioid sarcoma is an uncommon slow-growing soft tissue malignancy, associated with a high incidence of local recurrence and metastasis. We report a 26-year-old male with epithelioid sarcoma on the right palm with a long history of over seven years, which was initially misdiagnosed as cutaneous tuberculosis and epithelioid hemangioendothelioma, as a result of which the treatment was delayed. No metastasis was found in our patient. The patient was referred to the oncology centre where he underwent wide excision of the lesion followed by radiotherapy. The review of the literature including clinical and histological differential diagnosis is presented as it mimics inflammatory, benign tumors as well as other malignant conditions.

Single piece artificial urinary sphincter for secondary incontinence following successful repair of post traumatic urethral injury

PubMed Central

Kandpal, D. K.; Rawat, S. K.; Kanwar, S.; Baruha, A.; Chowdhary, S. K.

2013-01-01

Post traumatic urethral injury is uncommon in children. The management of this condition is dependent on the severity of injury. Initial suprapubic cystostomy with delayed repair is the conventional treatment. Successful reconstruction of urethral injury may be followed by urethral stricture, incontinence, impotence, and retrograde ejaculation. Successful repair of post traumatic urethral injury followed by secondary incontinence in children has not been well addressed in literature. We report the management of one such child, with satisfactory outcome with implantation of a new model of single piece artificial urinary sphincter in the bulbar urethra by perineal approach. PMID:24347870

Bilateral Cavernous Sinus Thrombosis as First Manifestation of Primary Burkitt Lymphoma of the Thyroid Gland

PubMed Central

Moghaddasi, Mehdi; Nabovvati, Mona; Razmeh, Saeed

2017-01-01

Cavernous sinus thrombosis (CST) is a rare condition that is usually associated with infections, pregnancy, vasculitis and some types of medication, such as the contraceptive pill and paraneoplastic. Primary Burkitt lymphoma (PBL) of the thyroid gland is very uncommon and the clinical description of such cases has been largely limited to case reports. In this paper, we present a case of CST as the first manifestation of PBL of the thyroid gland. To the best of our knowledge, our patient is the first case report of PBL of the thyroid gland that presents with bilateral CST. PMID:28713532

Upper lumbar disk herniations.

PubMed

Cedoz, M E; Larbre, J P; Lequin, C; Fischer, G; Llorca, G

1996-06-01

Specific features of upper lumbar disk herniations are reviewed based on data from the literature and from a retrospective study of 24 cases treated surgically between 1982 and 1994 (seven at L1-L2 and 17 at L2-L3). Clinical manifestations are polymorphic, misleading (abdominogenital pain suggestive of a visceral or psychogenic condition, meralgia paresthetica, isolated sciatica; femoral neuralgia is uncommon) and sometimes severe (five cases of cauda equina syndrome in our study group). The diagnostic usefulness of imaging studies (radiography, myelography, computed tomography, magnetic resonance imaging) and results of surgery are discussed. The risk of misdiagnosis and the encouraging results of surgery are emphasized.

Myotonic dystrophy mimicking postpolio syndrome in a polio survivor.

PubMed

Lim, Jae-Young; Kim, Kyoung-Eun; Choe, Gheeyoung

2009-02-01

We describe a 38-yr-old polio survivor with newly developed weakness from myotonic dystrophy. He suffered muscle atrophy and weakness in his legs as a result of poliomyelitis at the age of 3 yrs. After a stable interval of about 30 yrs, he felt new weakness and fatigue in his legs. Electromyography revealed generalized myotonic discharges, early recruitment, and findings of chronic denervation in his left leg. Genetic testing was consistent with myotonic dystrophy type 1. A biopsy from the right gastrocnemius revealed findings of both myotonic dystrophy and chronic denervation. This case report shows the importance of considering other uncommon conditions in the differential diagnoses of postpolio syndrome.

Crack Nucleation in β Titanium Alloys under High Cycle Fatigue Conditions - A Review

NASA Astrophysics Data System (ADS)

Benjamin, Rohit; Nageswara Rao, M.

2017-05-01

Beta titanium (β-Ti) alloys have emerged over the last 3 to 4 decades as an important class of titanium alloys. Many of the applications that they found, particularly in aerospace sector, are such that their high cycle fatigue (HCF) behavior becomes critical. In HCF regime, crack nucleation accounts for major part of the life. Consequently it becomes important to understand the mechanisms underlying the nucleation of cracks under HCF type loading conditions. The purpose of this review is to document the best understanding we have on date on crack nucleation in β-Ti alloys under HCF conditions. Role of various microstructural features encountered in β-Ti alloys in influencing the crack nucleation under HCF conditions has been reviewed. It has been brought out that changes in processing can result in changes in microstructure which in turn influence the time for crack nucleation/fatigue life and fatigue limit. While majority of fatigue failures originate at the surface, subsurface cracking is not uncommon with β-Ti alloys and the factors leading to subsurface cracking have been discussed in this review.

Distribution Patterns of Ohio Stoneflies, with an Emphasis on Rare and Uncommon Species

PubMed Central

Grubbs, Scott A.; Pessimo, Massimo; DeWalt, R. Edward

2013-01-01

Presently, 102 stonefly species (Plecoptera) have been reported from Ohio. All 9 Nearctic families are represented. Over 90% of the fauna exhibit a combination of broad Nearctic-widespread, eastern Nearctic-widespread, Appalachian, and eastern Nearctic-unglaciated distributions. In contrast, only 2 species display a central Nearctic-Prairie distribution. Seven species of Perlidae are likely no longer present (Acroneuria evoluta Klapálek, A. perplexa Frison, Attaneuria ruralis (Hagen), and Neoperla mainensis Banks) or have experienced marked range reductions (Acroneuria abnormis (Newman), A. frisoni Stark and Brown, and A. filicis Frison). Another nearly 31% of the fauna (32 species) are rare, uncommon, or have highly-limited distributions within the state. Twelve of these species have Appalachian distributions, and an additional 8 have eastern Nearctic-unglaciated distributions. The distributional status for each of the 32 rare/uncommon species is discussed. PMID:24219390

Nominal kinship cues facilitate altruism.

PubMed Central

Oates, Kerris; Wilson, Margo

2002-01-01

We investigated whether names in common promote altruistic behaviour, predicting that this would be especially so for relatively uncommon names, for surnames (which are better kinship cues than first names), and among women (who, although less willing than men to help strangers, according to prior research, are also the primary "kin keepers"). We solicited help from 2960 email addressees, with the request ostensibly coming from a same-sex person sharing both, either, or neither of the addressee's first and last names. As anticipated, addressees were most likely to respond helpfully when senders shared both their names (12.3%) and least likely when they shared neither (2.0%), and this was especially true for relatively uncommon names. A shared surname was more effective than a shared first name only if it was relatively uncommon. Women were substantially more likely to reply than men. These results indicate that names elicit altruism because they function as salient cues of kinship. PMID:11798424

Novel therapies in advanced renal cell carcinoma: management of adverse events from sorafenib and sunitinib.

PubMed

Ivanyi, Philipp; Winkler, Thomas; Ganser, Arnold; Reuter, Christoph; Grünwald, Viktor

2008-03-01

Sorafenib and Sunitinib are the first tyrosine kinase inhibitors licensed for the treatment of advanced renal cell carcinoma. In contrast to conventional chemotherapy, targeted therapies have distinct and specific side effects. Selective review in Medline and the data base of the American Society of Clinical Oncology on the treatment and side effects of tyrosine kinase inhibitors in renal cell carcinoma, drawing on the authors' own experience. Tyrosine kinase inhibitors are characterized by a variety of uncommon side effects, such as lassitude, mucosal inflammation and skin changes. The detection and treatment of adverse events are critical for interdisciplinary cancer treatment in order to ensure patients' safety. This article offers an overview of the unwanted effects of drug therapy in the management of renal cell carcinoma.

Case Report of Focal Epithelial Hyperplasia (Heck's Disease) with Polymerase Chain Reaction Detection of Human Papillomavirus 13.

PubMed

Brehm, Mary A; Gordon, Katie; Firan, Miahil; Rady, Peter; Agim, Nnenna

2016-05-01

Focal epithelial hyperplasia (FEH), or Heck's disease, is an uncommon benign proliferation of oral mucosa caused by the human papillomavirus (HPV), particularly subtypes 13 and 32. The disease typically presents in young Native American patients and is characterized by multiple asymptomatic papules and nodules on the oral mucosa, lips, tongue, and gingiva. The factors that determine susceptibility to FEH are unknown, but the ethnic and geographic distribution of FEH suggests that genetic predisposition, particularly having the human lymphocytic antigen DR4 type, may be involved in pathogenesis. We report a case of FEH with polymerase chain reaction detection of HPV13 in a healthy 11-year-old Hispanic girl and discuss the current understanding of disease pathogenesis, susceptibility, and treatment. © 2016 Wiley Periodicals, Inc.

[Amyotrophic neuralgia associated with bilateral phrenic paralysis treated with non-invasive mechanical ventilation].

PubMed

García García, María Del Carmen; Hernández Borge, Jacinto; Antona Rodríguez, María José; Pires Gonçalves, Pedro; García García, Gema

2015-09-07

Amyotrophic neuralgia is an uncommon neuropathy characterized by severe unilateral shoulder pain. Isolated or concomitant involvement of other peripheral motor nerves depending on the brachial plexus such as phrenic or laryngeal nerves is unusual(1). Its etiology is unknown, yet several explanatory factors have been proposed. Phrenic nerve involvement, either unilateral or bilateral, is exceedingly rare. Diagnosis relies on anamnesis, functional and imaging investigations and electromyogram. We report the case of a 48-year-old woman with a past history of renal transplantation due to proliferative glomerulonephritis with subsequent transplant rejection, who was eventually diagnosed with amyotrophic neuralgia with bilateral phrenic involvement, and who required sustained non-invasive mechanical ventilation. Copyright © 2015 Elsevier España, S.L.U. All rights reserved.

Renal Tubular Acidosis in Patients with Primary Sjögren's Syndrome.

PubMed

Jung, Su Woong; Park, Eun Ji; Kim, Jin Sug; Lee, Tae Won; Ihm, Chun Gyoo; Lee, Sang Ho; Moon, Ju-Young; Kim, Yang Gyun; Jeong, Kyung Hwan

2017-09-01

Primary Sjögren's syndrome (pSS) is characterized by lymphocytic infiltration of the exocrine glands resulting in decreased saliva and tear production. It uncommonly involves the kidneys in various forms, including tubulointerstitial nephritis, renal tubular acidosis, Fanconi syndrome, and rarely glomerulonephritis. Its clinical symptoms include muscle weakness, periodic paralysis, and bone pain due to metabolic acidosis and electrolyte imbalance. Herein, we describe the cases of two women with pSS whose presenting symptoms involve the kidneys. They had hypokalemia and normal anion gap metabolic acidosis due to distal renal tubular acidosis and positive anti-SS-A and anti-SS-B autoantibodies. Since one of them experienced femoral fracture due to osteomalacia secondary to renal tubular acidosis, an earlier diagnosis of pSS is important in preventing serious complications.

Myasthenia Gravis: A Review

PubMed Central

Jayam Trouth, Annapurni; Dabi, Alok; Solieman, Noha; Kurukumbi, Mohankumar; Kalyanam, Janaki

2012-01-01

Acquired myasthenia gravis is a relatively uncommon disorder, with prevalence rates that have increased to about 20 per 100,000 in the US population. This autoimmune disease is characterized by muscle weakness that fluctuates, worsening with exertion, and improving with rest. In about two-thirds of the patients, the involvement of extrinsic ocular muscle presents as the initial symptom, usually progressing to involve other bulbar muscles and limb musculature, resulting in generalized myasthenia gravis. Although the cause of the disorder is unknown, the role of circulating antibodies directed against the nicotinic acetylcholine receptor in its pathogenesis is well established. As this disorder is highly treatable, prompt recognition is crucial. During the past decade, significant progress has been made in our understanding of the disease, leading to new treatment modalities and a significant reduction in morbidity and mortality. PMID:23193443

Acute generalized exanthematous pustulosis induced by the essential oil of Pistacia lentiscus.

PubMed

Zaraa, I; Ben Taazayet, S; Trojjet, S; El Euch, D; Chelly, I; Haouet, S; Mokni, M; Ben Osman, A

2012-06-01

Acute generalized exanthematous pustulosis (AGEP) is an uncommon pustular eruption characterized by small nonfollicular pustules on an erythematous background, sometimes associated with fever and neutrophilia. Over 90% of cases are drug-induced; however, it can be caused in rare cases by other agents. We report two cases of AGEP secondary to ingestion of Pistacia lentiscus essential oil, the first two such cases to our knowledge. The cutaneous morphology, disease course and histological findings were consistent with a definite diagnosis of AGEP, based on the criteria of the EuroSCAR study group. These two cases highlight the need to consider herbal extracts as a potential rare cause of AGEP and to ensure the safety of herbal medicines. © The Author(s). CED © 2012 British Association of Dermatologists.

Atomic Layer Deposition of Metastable β-Fe 2 O 3 via Isomorphic Epitaxy for Photoassisted Water Oxidation

DOE PAGES

Emery, Jonathan D.; Schlepütz, Christian M.; Guo, Peijun; ...

2014-12-09

Here, we report the growth and photoelectrochemical (PEC) characterization of the uncommon bibyite phase of iron(III) oxide (β-Fe 2O 3) epitaxially stabilized via atomic layer deposition on an conductive, transparent, and isomorphic template (Sn-doped In 2O 3). Furthermore, as a photoanode, unoptimized β-Fe 2O 3 ultrathin films perform similarly to their ubiquitous α-phase (hematite) counterpart, but reveal a more ideal bandgap (1.8 eV), a ~0.1 V improved photocurrent onset potential, and longer wavelength (>600 nm) spectral response. Finally, stable operation under basic water oxidation justifies further exploration of this atypical phase and motivates the investigation of other unexplored metastable phasesmore » as new PEC materials.« less

An update on the genetics of hyperuricaemia and gout.

PubMed

Major, Tanya J; Dalbeth, Nicola; Stahl, Eli A; Merriman, Tony R

2018-06-01

A central aspect of the pathogenesis of gout is elevated urate concentrations, which lead to the formation of monosodium urate crystals. The clinical features of gout result from an individual's immune response to these deposited crystals. Genome-wide association studies (GWAS) have confirmed the importance of urate excretion in the control of serum urate levels and the risk of gout and have identified the kidneys, the gut and the liver as sites of urate regulation. The genetic contribution to the progression from hyperuricaemia to gout remains relatively poorly understood, although genes encoding proteins that are involved in the NLRP3 (NOD-, LRR- and pyrin domain-containing 3) inflammasome pathway play a part. Genome-wide and targeted sequencing is beginning to identify uncommon population-specific variants that are associated with urate levels and gout. Mendelian randomization studies using urate-associated genetic variants as unconfounded surrogates for lifelong urate exposure have not supported claims that urate is causal for metabolic conditions that are comorbidities of hyperuricaemia and gout. Genetic studies have also identified genetic variants that predict responsiveness to therapies (for example, urate-lowering drugs) for treatment of hyperuricaemia. Future research should focus on large GWAS (that include asymptomatic hyperuricaemic individuals) and on increasing the use of whole-genome sequencing data to identify uncommon genetic variants with increased penetrance that might provide opportunities for clinical translation.

Lipase-catalyzed acylation of microbial mannosylerythritol lipids (biosurfactants) and their characterization.

PubMed

Recke, Verena K; Beyrle, Catharina; Gerlitzki, Melanie; Hausmann, Rudolf; Syldatk, Christoph; Wray, Victor; Tokuda, Harukuni; Suzuki, Nobutaka; Lang, Siegmund

2013-05-24

Culturing Pseudozyma aphidis on glucose as main carbon source and soybean oil as co-substrate the mannosylerythritol lipids MEL-A and MEL-B were produced. Based on their excellent surface/interfacial active behavior they possess a high potential among all known biosurfactants. The components of a microbial MEL mixture were purified by medium pressure liquid chromatography (MPLC) and were used as substrates for in vitro enzymatic modifications. Lipase-catalyzed acylations of MEL-A and MEL-B with uncommon fatty acids from other microbial glycolipids-3-hydroxydecanoic acid from rhamnolipids and 17-hydroxyoctadecanoic acid from classical sophorolipids-yielded functionalized products at the C-1 position of the erythritol. The novel products were purified by MPLC and their structures elucidated by (1)H and (13)C nuclear magnetic resonance spectroscopy and mass spectrometry. In physicochemical characterization experiments two of the three new glycoconjugates lowered the surface tension of water from 72 mN m(-1) to 27-38 mN m(-1). Moreover the novel compounds inhibited the growth of gram-positive bacteria and showed a potential for anti-tumor-promoting activity. Copyright © 2013 Elsevier Ltd. All rights reserved.

Phenotypic and Genotypic Characterization of Enterobacteriaceae Producing Oxacillinase-48–Like Carbapenemases, United States

PubMed Central

Zhu, Wenming; de Man, Tom J.B.; Avillan, Johannetsy J.; Anderson, Karen F.; Lonsway, David R.; Rowe, Lori A.; Batra, Dhwani; Rasheed, J. Kamile; Limbago, Brandi M.

2018-01-01

Oxacillinase (OXA)–48–like carbapenemases remain relatively uncommon in the United States. We performed phenotypic and genotypic characterization of 30 Enterobacteriaceae producing OXA-48–like carbapenemases that were recovered from patients during 2010–2014. Isolates were collected from 12 states and not associated with outbreaks, although we could not exclude limited local transmission. The alleles β-lactamase OXA-181 (blaOXA-181) (43%), blaOXA-232 (33%), and blaOXA-48 (23%) were found. All isolates were resistant to ertapenem and showed positive results for the ertapenem and meropenem modified Hodge test and the modified carbapenem inactivation method; 73% showed a positive result for the Carba Nordmann–Poirel test. Whole-genome sequencing identified extended-spectrum β-lactamase genes in 93% of isolates. In all blaOXA-232 isolates, the gene was on a ColKP3 plasmid. A total of 12 of 13 isolates harboring blaOXA-181 contained the insertion sequence ΔISEcp1. In all isolates with blaOXA-48, the gene was located on a TN1999 transposon; these isolates also carried IncL/M plasmids. PMID:29553324

Vulvar Lichen Sclerosus et Atrophicus

PubMed Central

Nair, Pragya Ashok

2017-01-01

Vulvar lichen sclerosus (VLS) is a chronic inflammatory dermatosis characterized by ivory-white plaques or patches with glistening surface commonly affecting the vulva and anus. Common symptoms are irritation, soreness, dyspareunia, dysuria, and urinary or fecal incontinence. Anogenital lichen sclerosus (LS) is characterized by porcelain-white atrophic plaques, which may become confluent extending around the vulval and perianal skin in a figure of eight configuration. Thinning and shrinkage of the genital area make coitus, urination, and defecation painful. LS is not uncommon in India and present as an itchy vulvar dermatosis which a gynecologist may mistake for candidal vulvovaginitis. There is often a delay in diagnosis of VLS due to its asymptomatic nature and lack of awareness in patients as well as physicians. Embarrassment of patients due to private nature of the disease and failure to examine the genital skin properly are the other reasons for delay in diagnosis. There is no curative treatment for LS. Various medications available only relieve the symptoms. Chronic nature of the disease affects the quality of life. Proper and regular follow-up is required as there are chances of the development of squamous cell carcinoma. PMID:28706405

The Perlman syndrome: familial renal dysplasia with Wilms tumor, fetal gigantism and multiple congenital anomalies. 1984.

PubMed

Neri, Giovanni; Martini-Neri, Maria Enrica; Katz, Ben E; Opitz, John M

2013-11-01

The ensuing paper by Professor Giovanni Neri and colleagues was originally published in 1984, American Journal of Medical Genetics 19:195–207. The original article described a new family with a condition that the authors designated as the Perlman syndrome. This disorder, while uncommon, is an important multiple congenital anomaly and dysplasia syndrome; the causative gene was recently identified. This paper is a seminal work and is graciously republished by Wiley-Blackwell in the Special Festschrift issue honoring Professor Neri. We describe a familial syndrome of renal dysplasia, Wilms tumor, hyperplasia of the endocrine pancreas, fetal gigantism, multiple congenital anomalies and mental retardation. This condition was previously described by Perlman et al. [1973, 1975] and we propose to call it the "Perlman syndrome." It appears to be transmitted as an autosomal recessive trait. The possible relationships between dysplasia, neoplasia and malformation are discussed. © 2013 Wiley Periodicals, Inc.

Munchausen syndrome and Munchausen syndrome by proxy in dermatology.

PubMed

Boyd, Alan S; Ritchie, Coleman; Likhari, Sunaina

2014-08-01

Patients with Munchausen syndrome purposefully injure themselves, often with the injection of foreign materials, to gain hospital admission and the attention associated with having a difficult-to-identify condition. Munchausen syndrome by proxy occurs when a child's caregiver, typically the mother, injures the child for the same reasons. Cases of Munchausen syndrome and Munchausen syndrome by proxy with primary cutaneous involvement appear to be rarely described in the literature suggesting either that diagnosis is not made readily or that it is, in fact, an uncommon disorder. At the center of both conditions is significant psychological pathology and treatment is difficult as many patients with Munchausen syndrome when confronted with these diagnostic possibilities simply leave the hospital. Little is known about the long-term outcome or prognosis of these patients. Copyright © 2014 American Academy of Dermatology, Inc. Published by Mosby, Inc. All rights reserved.

Flexible bronchoscopic argon plasma coagulation for management of massive hemoptysis in bronchial Dieulafoy's disease

PubMed Central

Madan, Karan; Dhungana, Ashesh; Hadda, Vijay; Mohan, Anant; Guleria, Randeep

2017-01-01

Dieulafoy's disease is an uncommon condition, the usual site of occurrence being the gastrointestinal tract. The condition refers to the presence of a dysplastic submucosal artery with mucosal vascular branches that has propensity to cause recurrent bleeding. Dieulafoy's disease of the bronchus is rare. Herein, we describe the case of a 26-year-old male who presented with recurrent bouts of hemoptysis and bronchial Dieulafoy's disease was diagnosed. Flexible bronchoscopy was performed, and argon plasma coagulation (APC) of the bleeding lesion was done. The procedure was successful and was followed by complete eradication of the vascular malformation and cessation of hemoptysis. APC is a useful tool in the armamentarium of an interventional pulmonologist that can allow rapid and safe control of bleeding from superficially located and bleeding endobronchial lesions, and can be easily and effectively applied using a flexible bronchoscope. PMID:28144074

The value of routine chest radiographs in acute asthma admissions.

PubMed

Ismail, Y; Loo, C S; Zahary, M K

1994-04-01

We reviewed 116 chest radiographs done in 70 adult asthmatic patients who were admitted to the Hospital Universiti Sains Malaysia from January to December 1989. The chest radiographs were abnormal in 23% of cases. Twelve percent showed hyperinflation and 7% had pneumonia. Eight patients diagnosed clinically to have pneumonia had normal chest radiographs. Seven patients had radiographic findings of conditions which were unsuspected clinically. These included two cases of pneumonia, one case each of fibrosing alveolitis, pneumothorax, pneumomediastinum, mitral stenosis with left ventricular failure and right pleural effusion. In conclusion, we found that significant chest radiograph abnormalities in adult patients admitted for asthma were uncommon although chest radiographs were helpful in detecting complications or coincidental conditions. Chest radiograph is therefore an important investigation in adult asthmatic patients who are admitted. However, considering the cost and the risk of radiation, it should be done only in selective cases rather than as a routine procedure.

Clinical association: Lyme disease and Guillain-Barre syndrome.

PubMed

Patel, Kinner; Shah, Siddharth; Subedi, Dinesh

2017-10-01

Guillain-Barre Syndrome (GBS) is a life-threatening condition in which patients may present to the Emergency Department in respiratory distress leading to death. The early identification and treatment of such a condition is paramount in preventing mortality. While there are many infections associated with GBS, the association with Lyme disease is uncommon. Through our case we aim to highlight Borrelia burgdorferi as an important antecedent infection associated with the development of GBS. In this case we report a 31-year-old male who was diagnosed with Lyme disease and GBS with relevant clinical presentation including progressive numbness and weakness in bilateral hands and feet for the past 1week along with areflexia. Initiation of medical therapy with intravenous immunoglobulin and parenteral ceftriaxone resulted in resolution of his symptoms. The treatment of both diseases early can help prevent further central nervous complications leading to high morbidity and mortality. Copyright © 2017 Elsevier Inc. All rights reserved.

Unusual case of subxiphoid uniportal VATS right upper lobectomy in a patient with interrupted inferior vena cava with azygous continuation

PubMed Central

Abu Akar, Firas Emad; Yang, Chenlu; Zhou, Yiming; Lin, Lei; Gonzalez-Rivas, Diego

2017-01-01

Interrupted IVC (also known as Azygos continuation of the inferior vena cava) is a relatively uncommon congenital condition with prevalence 1.5% (0.2–3%) of the general population (Bass et al.). Although it’s usually asymptomatic condition, splenic or cardiac abnormalities could be associated (Hardwick et al.). Incidental diagnosis during prenatal ultrasound screening or by routine imaging is the most common scenario. Special attention is required during right side thoracic procedures surgical resections in order to avoid scarifying the azygos vein that could lead to fatal results (Effler et al.). We herein report a video documented case of right upper lobectomy and mediastinal lymph node dissection for non-small cell carcinoma of lung in a patient who had interrupted hepatic segmental branch of the IVC. The procedure was performed via the subxiphoid uniportal VATS approach. PMID:29078654

[Ovarian tumor in a koi carp (Cyprinus carpio): Diagnosis, surgery, postoperative care and tumour classification].

PubMed

Lewisch, E; Reifinger, M; Schmidt, P; El-Matbouli, M

2014-01-01

Although ovarian tumour in the koi (Cyprinus carpio) does not appear to be an uncommon condition, its occurrence and therapy has rarely been reported. In the present case, the decision for surgery was based on clinical and sonographic findings of an intracoelomic mass. We used tricaine methansulfonate for the anaesthesia. Laparotomy was performed by ventral access and an ovarian tumour of 12-cm diameter was removed. The wound was sutured in two layers using Vicryl®. In addition to the application of an analgesic, an antibiotic and vitamins, the postoperative conditions the patient was kept under were adapted to support wound healing. The fish recovered uneventfully and was clinically healthy during the 16-month observation period. Based on the histological findings, the tumour was diagnosed as a thecoma. Investigations using antibodies against vimentin, cytokeratin, S 100 and glial fibrillary acidic protein (GFAP) failed to provide reliable results.

A recurrent central giant cell granuloma in a young patient and orthodontic treatment: a case report.

PubMed

Patel, Devaki; Minhas, Gursharan; Johnson, Paul

2016-12-01

Central giant cell granuloma (CGCG) is an uncommon benign intraosseous lesion of the jaw, found predominantly in children and young adults below 30 years of age. The purpose of this article was to present a summary of the current literature and a case report of an 11-year-old boy diagnosed with an aggressive CGCG involving the anterior maxilla that was removed in 2004 and subsequently recurred almost 3 years later in 2006. The presenting features of the patient and the effect of combined surgical and orthodontic treatment for this condition are discussed. This case shows how the dentition was successfully maintained with conservative surgery and orthodontic treatment in spite of the extensive destruction of the supporting bone, and the importance of long-term follow-up. The report also reminds orthodontic practitioners that rare pathological conditions can occur in their child patient groups.

Aplastic Anemia in Two Patients with Sex Chromosome Aneuploidies.

PubMed

Rush, Eric T; Schaefer, G Bradley; Sanger, Warren G; Coccia, Peter F

2015-01-01

Sex chromosome aneuploidies range in incidence from rather common to exceedingly rare and have a variable phenotype. We report 2 patients with sex chromosome aneuploidies who developed severe aplastic anemia requiring treatment. The first patient had tetrasomy X (48,XXXX) and presented at 9 years of age, and the second patient had trisomy X (47,XXX) and presented at 5 years of age. Although aplastic anemia has been associated with other chromosomal abnormalities, sex chromosome abnormalities have not been traditionally considered a risk factor for this condition. A review of the literature reveals that at least one other patient with a sex chromosome aneuploidy (45,X) has suffered from aplastic anemia and that other autosomal chromosomal anomalies have been described. Despite the uncommon nature of each condition, it is possible that the apparent association is coincidental. A better understanding of the genetic causes of aplastic anemia remains important. © 2015 S. Karger AG, Basel.

The β-glucosidase secreted by Talaromyces amestolkiae under carbon starvation: a versatile catalyst for biofuel production from plant and algal biomass.

PubMed

Méndez-Líter, Juan Antonio; de Eugenio, Laura Isabel; Prieto, Alicia; Martínez, María Jesús

2018-01-01

In the last years, the most outstanding trend for obtaining high added-value components and second-generation (2G) biofuels consisted on exploitation of plant biomass. But recently, 3G biofuels, based in algae biomass, have emerged as a great alternative for production of energy. In this work, a versatile β-glucosidase from the ascomycete fungus Talaromyces amestolkiae has been purified, characterized, and heterologously expressed. The synthesis of this β-glucosidase (BGL-3) was not induced by cellulose, and the presence of a specific carbon source is not required for its production, which is uncommon for β-glucosidases. BGL-3, which was obtained from a basal medium with glucose as carbon source, was profusely secreted under carbon starvation conditions, which was corroborated by qRT-PCR assays. BGL-3 was purified from T. amestolkiae cultures in one step, and biochemically characterized. The enzyme showed high thermal stability, and very high efficiency on p NPG ( K m of 0.14 mM and V max of 381.1 U/mg), cellobiose ( K m of 0.48 mM and V max of 447.1 U/mg), and other cello-oligosaccharides. Surprisingly, it also showed remarkable ability to hydrolyze laminarin, a β-1,3-glucan present in algae. The recombinant enzyme, obtained in the yeast Pichia pastoris, exhibited kinetic and physicochemical properties similar to those found for the native protein. Enzyme efficiency was examined in wheat straw saccharification processes, in which BGL-3 worked better supplementing Celluclast 1.5L than the commercial cellulase cocktail N-50010. Besides, BGL-3 hydrolyzed laminarin more efficiently than a commercial laminarinase. A very efficient 1,4-β-glucosidase, which also showed activity over 1,3-β-glucose bonds, has been produced, purified, and characterized. This is the first report of such versatility in a 1,4-β-glucosidase. The application of this enzyme for saccharification of wheat straw and laminarin and its comparison with commercial enzymes suggest that it could be an interesting tool for the production of 2G and 3G biofuels.

Febrile urticaria in a family: uncommon manifestation of a common disease.

PubMed

Sharma, Vishal; Singhal, Mayank; Sharma, Alka; Kumar, Vivek

2012-12-15

Cutaneous manifestations are uncommon with malaria. These include urticaria, purpura fulminans, and petechial rash. We report on a series of three patients from a single family who had an urticarial rash with fever that was subsequently diagnosed to be caused by malaria. Urticarial rash has been previously reported with both falciparum and vivax malaria infections. Although the exact pathogenesis is not clear urticarial rash might be related with IgE mediated mast cell degranulation.

Cervical bronchogenic cysts in head and neck region.

PubMed

Ustundag, Emre; Iseri, Mete; Keskin, Gurkan; Yayla, Berna; Muezzinoglu, Bahar

2005-06-01

Congenital cysts of the neck are not uncommon. Most of these are thyroglossal, branchial cleft and thymic cysts. Bronchogenic cysts are uncommon developmental anomalies of the tracheobronchial tree and rarely occur in the neck. More than 70 cases of bronchogenic cysts in the head and neck region have been reported in the literature. We report three cases presenting with neck swelling in the hyoid region that were diagnosed as bronchogenic cysts based on clinical and histopathological findings.

Very early disengagement and subsequent re-engagement in primary care Office Based Opioid Treatment (OBOT) with buprenorphine.

PubMed

Hui, David; Weinstein, Zoe M; Cheng, Debbie M; Quinn, Emily; Kim, Hyunjoong; Labelle, Colleen; Samet, Jeffrey H

2017-08-01

Patients with opioid use disorder often require multiple treatment attempts before achieving stable recovery. Rates of disengagement from buprenorphine are highest in the first month of treatment and termination of buprenorphine therapy results in return to use rates as high as 90%. To better characterize these at-risk patients, this study aims to describe: 1) the frequency and characteristics of patients with very early disengagement (≤1month) from Office Based Opioid Treatment (OBOT) with buprenorphine and 2) the frequency and characteristics of patients who re-engage in care at this same OBOT clinic within 2years, among the subset of very early disengagers. This is a retrospective cohort study of adult patients enrolled in a large urban OBOT program. Descriptive statistics were used to characterize the sample and the proportion of patients with very early (≤1month) disengagement and their re-engagement. Multivariable logistic regression models were used to identify patient characteristics associated with the outcomes of very early disengagement and re-engagement. Potential predictors included: sex, age, race/ethnicity, education, employment, opioid use history, prior substance use treatments, urine drug testing, and psychiatric diagnoses. Overall, very early disengagement was unusual, with only 8.4% (104/1234) of patients disengaging within the first month. Among the subset of very early disengagers with 2years of follow-up, the proportion who re-engaged with this OBOT program in the subsequent 2years was 11.9% (10/84). Urine drug test positive for opiates within the first month (AOR: 2.01, 95% CI: 1.02-3.93) was associated with increased odds of very early disengagement. Transferring from another buprenorphine prescriber (AOR: 0.09, 95% CI: 0.01-0.70) was associated with decreased odds of very early disengagement. No characteristics were significantly associated with re-engagement. Early disengagement is uncommon; however, continued opioid use appeared to be associated with higher odds of treatment disengagement and these patients may warrant additional support. Re-engagement was uncommon, suggesting the need for a more formal explicit system to encourage and facilitate re-engagement among patients who disengage. Copyright © 2017 Elsevier Inc. All rights reserved.

Discovery of challacolloite, an uncommon chloride, on a fifteenth-century polychrome terracotta relief by Michele da Firenze

NASA Astrophysics Data System (ADS)

Bezur, Anikó; Kavich, Gwénaëlle; Stenger, Jens; Torok, Elena; Snow, Carol

2015-10-01

The fifteenth-century gilt and polychromed terracotta relief, Virgin and Child by Michele da Firenze in the collection of the Yale University Art Gallery, was recently conserved in preparation for exhibition. The crystallization of water-soluble salts was suspected as the main reason behind its poor condition. Characterization of powdery deposits over remaining polychromy revealed the presence of KPb2Cl5 in addition to gypsum and other minor components. Detection of potassium lead chloride has not been previously reported in association with cultural heritage objects. The synthetic form of this compound has garnered attention during the past two decades due to its potential optical applications in the infrared region. In nature it occurs as challacolloite, a mineral first named only in 2005 in scientific literature and that primarily forms at high temperatures in fumaroles of volcanos, including those in Italy. The presence of this compound limits the types of materials that can be safely used in conservation treatment applications related to cleaning and consolidation, and therefore, its detection is important. This paper provides information that can serve as a reference for identifying other instances of challacolloite. The form and distribution of challacolloite on the Virgin and Child indicates that the compound is generated in situ and that crystal nucleation and growth result in loss of cohesion within paint layers, delamination of paint layers, and damage to the terracotta substrate. Possible rationales for the formation of this unusual compound are proposed.

Diagnosis and classification of eosinophilic granulomatosis with polyangiitis (formerly named Churg-Strauss syndrome).

PubMed

Mouthon, Luc; Dunogue, Bertrand; Guillevin, Loïc

2014-01-01

Recently, a group of experts in the field suggested to rename Churg-Strauss syndrome as eosinophilic granulomatosis with polyangiitis (EGPA). This condition, first described in 1951, is a rare small- and medium-sized-vessel vasculitis characterized by an almost constant association with asthma and eosinophilia, and, by the presence of anti-myeloperoxidase (MPO) antineutrophil cytoplasm antibodies (ANCA) in 30-38% of the patients. Vasculitis typically develops in a previously asthmatic and eosinophilic middle-aged patient. Asthma is severe, associated with eosinophilia and extrapulmonary symptoms. Most frequently EGPA involves the peripheral nerves and skin. Other organs, however, may be affected and must be screened for vasculitis, especially those associated with a poorer prognosis, such as the heart, kidney and gastrointestinal tract, as assessed by the recently revised Five-Factor Score (FFS). Recent insights, particularly concerning clinical differences associated with ANCA status, showed that EGPA patients might constitute a heterogeneous group. Thus, EGPA patients with anti-MPO ANCA suffered more, albeit not exclusively, from vasculitis symptoms, such as glomerulonephritis, mononeuritis multiplex and alveolar hemorrhage, whereas ANCA-negative patients more frequently develop heart involvement. This observation led to the hypothesis that EGPA might be divided into different clinical and pathophysiological subtypes, which could be managed better with more specifically adapted therapies. For now, EGPA treatment still relies mainly on corticosteroids and, when necessary for patients with poorer prognoses, combined immunosuppressant drugs, especially cyclophosphamide. Overall survival of EGPA patients is good, despite not uncommon relapses. Copyright © 2014 Elsevier Ltd. All rights reserved.

Immunodeficiencies

PubMed Central

Ballow, M; Notarangelo, L; Grimbacher, B; Cunningham-Rundles, C; Stein, M; Helbert, M; Gathmann, B; Kindle, G; Knight, A K; Ochs, H D; Sullivan, K; Franco, J L

2009-01-01

Primary immunodeficiencies (PIDs) are uncommon, chronic and severe disorders of the immune system in which patients cannot mount a sufficiently protective immune response, leading to an increased susceptibility to infections. The treatment of choice for PID patients with predominant antibody deficiency is intravenous immunoglobulin (Ig) replacement therapy. Despite major advances over the last 20 years in the molecular characterization of PIDs, many patients remain undiagnosed or are diagnosed too late, with severe consequences. Various strategies to ensure timely diagnosis of PIDs are in place, and novel approaches are being developed. In recent years, several patient registries have been established. Such registries shed light on the pathology and natural history of these varied disorders. Analyses of the registry data may also reveal which patients are likely to respond well to higher Ig infusion rates and may help to determine the optimal dosing of Ig products. Faster infusion rates may lead to improved convenience for patients and thus increase patient compliance, and may reduce nursing time and the need for hospital resources. Data from two recent studies suggest that Gamunex® and Privigen® are well tolerated at high infusion rates. Nevertheless, careful selection of patients for high infusion rates, based on co-morbid conditions and tolerance of the current infusion rate, is advisable. Based on the available data, intravenous Ig offers broad protection against encapsulated organisms. As vaccine trends change, careful monitoring of specific antibody levels in the general population, such as those against pneumococcal and meningococcal bacteria, should be implemented. PMID:19883420

[Intrathoracic-mediastinal myofibroblastic tumor. Report and experience of one case].

PubMed

Hernández-Ascencio, Julio Abraham; Rios-Cruz, Daniel; Grube-Pagola, Peter; Gómez-Calzada, Juan Gabriel

2014-01-01

Inflammatory pseudotumor is a little known and uncommon condition. The debate continues whether it represents an inflammatory lesion or is a true neoplasm. It is considered a reactive process usually characterized by irregular growth of inflammatory cells. It has been described at various sites, the most common being the lung. The aim of this report is to emphasize the difficulty in the initial diagnosis. We present the case of a 56-year-old male who reports an 8-month history of dry cough, dyspnea, fatigue, weakness and weight loss of 20 kg. We performed two biopsies, one positive for malignancy without response to medical treatment and the second reporting chronic granulomatous inflammation. The patient underwent sternotomy, revealing a tumor of 20 × 17 × 10 cm, weighing approximately 2 kg. The tumor was dependent on the anterior mediastinum surrounding large vessels, and venous brachiocephalic, pericardium and both pleuras with firm adhesions to the right lung. Pathological report was as follows: inflammatory myofibroblastic tumor with positive immunohistochemistry for CD20 and CD3. Postoperative course was satisfactory and 1 year after surgery there was no evidence of recurrence. Inflammatory pseudotumor is a benign neoplasm of unknown origin with a chronic course. It can simulate a malignant tumor, causing constitutional manifestations, airway obstruction, cardiac alterations or other symptoms according to their location. Diagnosis is based on radiological features and direct biopsy. Treatment of choice is complete resection of the tumor with a favorable long-term outcome.

Acute dacryocystitis associated with epstein-barr virus infection.

PubMed

Ghauri, Abdul-Jabbar; Keane, Pearse A; Scotcher, Stephen M; Clarke, Jayne L; Madge, Simon N

2011-10-01

Acute dacryocystitis is a rare complication of infectious mononucleosis with only three previous reports in the English literature. We present two further children with acute dacryocystitis and clinical and laboratory features of Epstein-Barr Virus related infectious mononucleosis. Both were treated with systemic antibiotics and one child additionally required surgical drainage of a lacrimal sac abscess. Both children made a complete recovery without any lacrimal symptoms. Acute dacryocystitis is uncommon in children without a history of congenital nasolacrimal duct obstruction, and an underlying systemic condition such as infectious mononucleosis should be suspected. In such patients, dacryocystitis can be expected to resolve without symptoms of nasolacrimal duct obstruction and dacryocystorhinostomy is seldom required.

Chronic gastric instability and presumed incomplete volvulus in dogs.

PubMed

Paris, J K; Yool, D A; Reed, N; Ridyard, A E; Chandler, M L; Simpson, J W

2011-12-01

Chronic gastric volvulus in dogs results in long-standing gastrointestinal signs unlike those of acute gastric dilatation and volvulus. This report describes chronic gastric volvulus in seven dogs. The majority of dogs presented with weight loss, chronic vomiting, lethargy and abdominal pain. A combination of radiographic, ultrasonographic and endoscopic imaging indicated altered positioning of gastric landmarks. Dynamic changes were identified in some cases. Exploratory coeliotomy and surgical gastropexy were performed in all dogs. Clinical signs improved or resolved in six of seven dogs postoperatively. Chronic gastric volvulus is an uncommon condition in dogs, but should be considered as a differential in cases presenting with the above clinical signs. © 2011 British Small Animal Veterinary Association.

Catastrophic antiphospholipid syndrome (Ronald Asherson syndrome) and obstetric pathology.

PubMed

Makatsariya, Alexander D; Khizroeva, Jamilya; Bitsadze, Viktoriya O

2018-05-24

Catastrophic antiphospholipid syndrome (CAPS) is an uncommon, often fatal, variant of the antiphospholipid syndrome (APS) that results in a widespread coagulopathy and high titres of antiphospholipid antibodies (aPL) and affects predominantly small vessels supplying organs with the development of multiorgan failure. It remains unclear why some patients develop the typical clinical picture of APS (thrombosis of large vessels), whereas others show the development of progressive microthrombosis, which the authors called "thrombotic storm" and multiple organ failure, that is, CAPS. Since 2001-2016, we discovered 17 patients with CAPS development. CAPS is life-threatening condition, but optimal treatment for CAPS is not developed yet and the mortality rate is as high as 30%-40%.

Isolated ileal ganglioneuromatosis in an 11-year-old boy: Case report and review of literature.

PubMed

Mitra, Subhashis; Mukherjee, Sanghamitra; Chakraborty, Hema

2016-01-01

Ganglioneuromatous proliferation in the gastrointestinal tract is a rare occurrence and is usually associated with specific syndrome complexes such as multiple endocrine neoplasia Type 2B or von Recklinghausen's disease. We report here a case of diffuse intestinal ganglioneuromatosis, presenting as intestinal obstruction and chronic constipation in an 11-year-old boy. Sporadic cases of intestinal ganglioneuromatosis in the absence of any systemic manifestations are a very rare cause of enteric motility disorders in childhood, and we discuss the pathological and clinical significance of this finding. Histopathological identification of this uncommon cause of a common pediatric problem is important since the condition is amenable to surgical treatment.

A quality of life quandary: a framework for navigating parental refusal of treatment for co-morbidities in infants with underlying medical conditions.

PubMed

Kunz, Sarah N; McAdams, Ryan M; Diekema, Douglas S; Opel, Douglas J

2015-01-01

Parental refusal of a recommended treatment is not an uncommon scenario in the neonatal intensive care unit. These refusals may be based upon the parents' perceptions of their child's projected quality of life. The inherent subjectivity of quality of life assessments, however, can exacerbate disagreement between parents and healthcare providers. We present a case of parental refusal of surgical intervention for necrotizing enterocolitis in an infant with Bartter syndrome and develop an ethical framework in which to consider the appropriateness of parental refusal based upon an infant's projected quality of life. Copyright 2015 The Journal of Clinical Ethics. All rights reserved.

Acute Cholecystitis Caused by Ceftriaxone Stones in an Adult

PubMed Central

Becker, Christian D.; Fischer, Robert A.

2009-01-01

Acute cholecystitis is a major health problem. There are multiple etiologies to be considered and early recognition of the condition is important to optimize management and outcome. We report the first case in the medical literature of symptomatic acute cholecystitis triggered by ceftriaxone-associated gallbladder sludge formation and, importantly, solid ceftriaxone gallstone formation in an adult patient with underlying mineral and pigment cholecystolithiasis, necessitating cholecystectomy. This case serves as a reminder for physicians to keep this uncommon cause of cholecystolithiasis and cholecystitis in mind in patients who receive prolonged ceftriaxone therapy. These patients should be cautioned to promptly report to their physicians any signs or symptoms of cholecystitis in order to ensure timely and appropriate evaluation. PMID:19707473

Acute Inhalation Injury

PubMed Central

Gorguner, Metin; Akgun, Metin

2010-01-01

Inhaled substances may cause injury in pulmonary epithelium at various levels of respiratory tract, leading from simple symptoms to severe disease. Acute inhalation injury (AII) is not uncommon condition. There are certain high risk groups but AII may occur at various places including home or workplace. Environmental exposure is also possible. In addition to individual susceptibility, the characteristics of inhaled substances such as water solubility, size of substances and chemical properties may affect disease severity as well as its location. Although AII cases may recover in a few days but AII may cause long-term complications, even death. We aimed to discuss the effects of short-term exposures (minutes to hours) to toxic substances on the lungs. PMID:25610115

Nasal erosion as an uncommon sign of child abuse.

PubMed

Culotta, Paige A; Isaac, Reena; Sarpong, Kwabena; Chandy, Binoy; Cruz, Andrea; Donaruma-Kwoh, Marcella

2018-05-01

While various forms of facial trauma, bruising, burns, and fractures are frequently seen in cases of child abuse, purposeful nasal erosion has rarely been identified as a form of abusive injury. Progressive destruction of nasal tissue in children provokes a wide differential diagnosis crossing multiple subspecialties: infectious, primary immunodeficiencies, inflammatory conditions, malignancy, and genetic disorders. Progressive nasal erosion also can be a manifestation of child abuse. The proposed mechanism is repetitive mechanical denudation of the soft tissue and cartilage resulting in chronic inflammation, bleeding, and ultimately destruction of the insulted tissue. We report 6 cases of child abuse manifesting as overt nasal destruction. Copyright © 2018 Elsevier B.V. All rights reserved.

Laparoscopic Pancreaticoduodenectomy for the Management of Localized Crohn's Disease of the Duodenum.

PubMed

Xingjun, Guo; Feng, Zhu; Min, Wang; Renyi, Qin

2016-08-01

Crohn's disease of the duodenum is an uncommon condition. Our case was an extremely rare manifestation of Crohn's disease, who presented with obstruction of the pylorus and the first and the second parts of the duodenum. Because of the severity of the obstruction, he underwent laparoscopic pancreaticoduodenectomy. Postoperative pancreatic leakage and bowel fistula were not observed, and there was no morbidity during the follow-up period. There was also no disturbance in digestive function, postoperatively. This is the first case employing laparoscopic pancreaticoduodenectomy to cure benign lesions leading to duodenal obstruction. Minimally invasive laparoscopic pancreaticoduodenectomy technology shows a very big advantage in treating this rare benign Crohn's disease.

Remittent hyperammonemia in congenital portosystemic shunt.

PubMed

Ferrero, Giovanni Battista; Porta, Francesco; Biamino, Elisa; Mussa, Alessandro; Garelli, Emanuela; Chiappe, Francesca; Veltri, Andrea; Silengo, Margherita Cirillo; Gennari, Fabrizio

2010-03-01

Congenital portosystemic shunts (PSS) are rare vascular anomalies with different gross anatomy. Persistent patent ductus venosus (PDV) represents an uncommon cause of intrahepatic PSS. The diagnosis of this condition may not be obvious because of its wide spectrum of clinical manifestations, ranging from asymptomatic to life-threatening disease. We report the case of three boys with neuropsychological symptoms associated with mild fasting hyperammonemia. An oral protein load allowed the detection of a detoxication defect due to PSS related to PDV. This simple procedure can be worthwhile of attention in patients with mental retardation, behavior disturbances, and learning difficulties after exclusion of common causes of inherited hyperammonemia, namely, urea cycle disorders, organic acidemias, and fatty acid oxidation defects.

Neonatal liver abscesses due to Candida infection in a preterm infant, secondary to malpositioned umbilical lines – a rare entity

PubMed Central

Sharma, Deepak; Choudhary, Mukesh; Shastri, Sweta; Sharma, Pradeep Kumar

2015-01-01

Neonatal liver abscess is an uncommon seen condition in neonatology and it holds a very high neonatal mortality because of difficulty in diagnosis and treatment. Till today, only few instances are reported that too are mainly in preterm. Its diagnosis requires a high index of suspicion. Fungal hepatic abscess is very rare and in medical literature very few case reports are there in the medical literature. Here, we report a case of Candida albicans liver abscess in a preterm neonate, secondary to malpositioned umbilical lines that presented with respiratory difficulty and other clinical features of sepsis that was managed medically and discharged successfully. PMID:25736870

[Hepatoblastoma, Etiology, Case Reports].

PubMed

Puchmajerová, A; Křepelová, A; Indráková, J; Sítková, R; Balaščak, I; Kruseová, J; Švojgr, K; Kodet, R; Kynčl, M; Vícha, A; Macek, M

2016-01-01

Hepatoblastoma is an uncommon malignant neoplasm in general, yet, it is the most common liver malignancy in children with the incidence about one per milion children. This type of liver tumor usually occurs before the age of three years. The etiology of hepatoblastoma remains unknown. However, there are some genetic conditions known to be associated with an increased risk of developing hepatoblastoma such as Beckwith-Wiedemann syndrome, hemihypertrophy, APC-associated polyposis, α-1-antitrypsin defficiency and some metabolic disorders including tyrosinemia, galactosemia and glycogen storage disease type 1. There is a higher risk of hepatoblastoma in children with very low birthweight, children who acquire hepatitis B at an early age and children with congenital biliary atresia.

[Bladder endometriosis. Diagnostic and therapeutic approximation].

PubMed

Monllor Gisbert, J; Merino Hernaez, C; Olivier Gómez, C; Carballido Rodríguez, J

1991-01-01

Endometriosis is defined by the presence of functionally active endometria in ectopic position; so when its clinical behaviour adopts the characteristics of tumoration, endometrioma is accepted as an alternative name. Location of this pathology in the urinary apparatus is uncommon in terms of incidence, since the bladder is a selected site. This condition implies a high morbidity rate because it requires a high level of suspicion in order to be diagnosed. It is acknowledged that no image study (CAT, Echography, MNR, etc.) is pathognomonic for endometriosis and it is necessary to perform endoscopy and biopsy to achieve a correct diagnosis. The paper includes the strategy to follow, both with regard to diagnosis and the current therapeutic approaches.

Necrotizing fasciitis secondary to enterocutaneous fistula: three case reports.

PubMed

Gu, Guo-Li; Wang, Lin; Wei, Xue-Ming; Li, Ming; Zhang, Jie

2014-06-28

Necrotizing fasciitis (NF) is an uncommon, rapidly progressive, and potentially fatal infection of the superficial fascia and subcutaneous tissue. NF caused by an enterocutaneous fistula has special clinical characters compared with other types of NF. NF caused by enterocutaneous fistula may have more rapid progress and more severe consequences because of multiple germs infection and corrosion by digestive juices. We treated three cases of NF caused by postoperative enterocutaneous fistula since Jan 2007. We followed empirically the principle of eliminating anaerobic conditions of infection, bypassing or draining digestive juice from the fistula and changing dressings with moist exposed burn therapy impregnated with zinc/silver acetate. These three cases were eventually cured by debridement, antibiotics and wound management.

[Osteogenesis imperfecta in monozygotic twins in Burundi].

PubMed

Armstrong, O; Karayuba, R; Ngendahayo, L; Habonimana, E

1994-01-01

Little data is available about osteogenesis imperfecta in Black African children. This defect was diagnosed in monozygotic twins from Rwanda who presented multiple fractures, in particular of the femur, when they began to walk. Osteogenesis imperfecta was confirmed by lower limb deformity, presence of wormian bones in the skull, blue sclera, and tooth defects. In addition to the fact that it is uncommon to encounter this condition in monozygotic twins, this case is interesting for several reasons. Was osteogenesis imperfecta in these patients type I, frequent, or type III, exceptional? More importantly, this case stresses the high prevalence of type III in Black Africa which could constitute a hot-bed in the world.

Multifocal tumoral calcinosis in a 4-year-old girl.

PubMed

Sayar, Ilyas; Peker, Kemal; Kapısız, Alparslan; Bostancı, Isıl Esen; Gürbüzel, Mehmet; Isik, Arda; Peker, Necla Aydın

2014-01-01

Female, 4 FINAL DIAGNOSIS: Tumoral calcinosis Symptoms: Hard immobile mass Medication: - Clinical Procedure: - Specialty: Surgery. Congenital defects. Tumoral calcinosis is an uncommon condition associated with the deposition of painless calcific masses. It is more common in childhood or early adolescence of African-American females. We present a case of a 4-year-old girl with tumoral calcinosis treated surgically. The case is rather rare in terms of the age of the patient and the localization of the masses (gluteal site). In our patient, the biochemical findings were normal, except for hyperphosphatemia and elevated alkaline phosphatase. Total excision appears to lead to a good clinical outcome and a low incidence of local relapse.

Presenting symptoms of giant fibrovascular polyp of the oesophagus: case report and literature review.

PubMed

Sestini, S; Gisabella, M; Pastorino, U; Billé, A

2016-05-01

Lipomas of the gastrointestinal tract are rare, slow-growing lesions that comprise 0.4% of all gastrointestinal neoplasms. They can cause dysphagia, dyspnoea or sudden choking. Due to rarity of this condition and its uncommon presentation, a literature review was carried out (PubMed). This search revealed 290 articles, of which 74 were considered pertinent and were evaluated. We report a case of a 13cm pedunculated oesophageal lipoma that presented with increasing dysphagia and two episodes of suffocation. The patient underwent curative resection through a cervical approach. Resection is recommended for large (>5 cm) or symptomatic polyps. Outcomes are excellent given that lesions are universally benign and oesophageal resection is not required.

[Congenital mydriasis as an initial sign of septo-optic dysplasia].

PubMed

Carrascosa-Romero, M C; Ruiz-Cano, R; Martínez-López, F; Alfaro-Ponce, B; Pérez-Pardo, A

2013-10-01

Septo-optic dysplasia (SOD)[MIM182230] consisting of a heterogeneous and uncommon condition characterised by the classictriad: optic nerve hypoplasia, abnormalities of pituitary hormone, and defects of thebrain midline (including agenesis of the septum pellucidum and/or the corpus callosum; ithas also been described associated cortical malformations, it was referred to as SOD plus syndrome).We report the first known case in which the initial diagnostic sign of SOD was a bilateralmydriasis as a manifestation ofhypoplasia of both optic nerves, pituitary hypoplasia andcerebral dysgenesis with neuronal migration disorder.We discuss thedifferential diagnosis of congenital mydriasis. Copyright © 2010 Sociedad Española de Oftalmología. Published by Elsevier Espana. All rights reserved.

Editorial Commentary: Got Evidence? What We Really Need Is an Algorithm for Treating Symptomatic Bipartite Patella.

PubMed

Fithian, Donald C

2018-05-01

Bipartite patella is an uncommon but potentially troublesome problem for young athletes. Numerous uncontrolled retrospective studies have reported good results after various treatments. What is needed are studies that will guide workup and support treatment decisions based on the condition of the cartilage surfaces of the fragment, presence of pseudoarthrosis, and size and location of the fragment. To support decisions, we need prospective comparative studies, either randomized or, at least, prospective cohort studies that identify patients at the time of presentation, document key decision points, and follow patients to successful resolution of symptoms. Copyright © 2018 Arthroscopy Association of North America. Published by Elsevier Inc. All rights reserved.

Small Bowel Obstruction Caused by Aloe vera Bezoars: A Case Report.

PubMed

Hong, In Taik; Cha, Jae Myung; Ki, Hye Jin; Kwak, Min Seob; Yoon, Jin Young; Shin, Hyun Phil; Jeoun, Jung Won; Choi, Sung Il

2017-05-25

Small bowel obstruction is a clinical condition commonly caused by postoperative adhesion, volvulus, intussusceptions, and hernia. Small bowel obstruction due to bezoars is clinically uncommon, accounting for approximately 2-4% of all obstructions. Computed tomography (CT) is a useful method in diagnosing the cause of small bowel obstruction. However, small bowel obstruction caused by bezoars may not be detected by an abdominal CT examination. Herein, we report a rare case of small bowel obstruction by Aloe vera bezoars, which were undetected by an abdominal CT. Phytobezoars should be included in the differential diagnosis of small bowel obstruction in patients with predisposing factors, such as excessive consumption of high-fiber food and diabetes.

A Challenging Case of Primary Breast Hodgkin's Lymphoma

PubMed Central

ZARNESCU, Narcis Octavian; ILIESIU, Andreea; PROCOP, Alexandru; TAMPA, Mircea; MATEI, Clara; SAJIN, Maria; COSTACHE, Mariana; DUMITRU, Adrian; LAZAROIU, Anca Mihaela

2015-01-01

Primary breast lymphoma (PBL) is a rare entity accounting for less than 1% of all breast malignancies. Diagnostic criteria for primary Hodgkin's lymphoma of the breast are: the presence of sufficient tissue for diagnosis, close interaction between mammary tissue and lymphomatous infiltrate and no evidence or prior diagnosis of widespread lymphoma. Our case illustrates an unusual presentation of Hodgkin's lymphoma of the breast: clinically as inflammatory breast cancer and core biopsy as granulomatous mastitis, the final diagnosis requiring surgical biopsy. Current information regarding this entity is scant, mainly build upon its rarity. In this paper we assess the clinical presentation, the step-by-step diagnosis, the treatment and the importance of immunohistochemistry in this uncommon condition. PMID:26225149

A Challenging Case of Primary Breast Hodgkin's Lymphoma.

PubMed

Zarnescu, Narcis Octavian; Iliesiu, Andreea; Procop, Alexandru; Tampa, Mircea; Matei, Clara; Sajin, Maria; Costache, Mariana; Dumitru, Adrian; Lazaroiu, Anca Mihaela

2015-03-01

Primary breast lymphoma (PBL) is a rare entity accounting for less than 1% of all breast malignancies. Diagnostic criteria for primary Hodgkin's lymphoma of the breast are: the presence of sufficient tissue for diagnosis, close interaction between mammary tissue and lymphomatous infiltrate and no evidence or prior diagnosis of widespread lymphoma. Our case illustrates an unusual presentation of Hodgkin's lymphoma of the breast: clinically as inflammatory breast cancer and core biopsy as granulomatous mastitis, the final diagnosis requiring surgical biopsy. Current information regarding this entity is scant, mainly build upon its rarity. In this paper we assess the clinical presentation, the step-by-step diagnosis, the treatment and the importance of immunohistochemistry in this uncommon condition.

[Meningococcal vulvovaginitis in a prepubertal girl].

PubMed

Nathanson, M; Tisseron, B; de Pontual, L

2005-12-01

Neisseria meningitidis is an uncommon cause of vulvovaginitis in the prepubertal girl. The microorganism must not be mistaken for Neisseria gonorrhoeae, as the consequences of such an error may be serious. Colonization or infection by Neisseria meningitis is not uncommon in adolescents and adults. Vulvitis, even when it is recurrent, is not per se a good indicator of sexual abuse, but some microorganisms found by vaginal swab can make it possible, likely or certain. Sexual transmission of N. meningitidis has not been described in the prepubertal child.

Round pneumonia in an adult.

PubMed

Zhang, Yi; Yu, Yong-Sheng; Tang, Zheng-Hao; Chen, Xiao-Hua; Zang, Guo-Qing

2014-01-01

Round pneumonia is an uncommon form of pulmonary infection usually found in children. It may resemble pulmonary neoplasm on radiographs. We present a case of round pneumonia in a 43-year-old male with a history of smoking and a family history of lung cancer. The patient was treated with antibiotics for more than two weeks, after which the infection resolved completely both clinically and radiologically. Clinicians should consider this uncommon type of pneumonia in the differential diagnosis of spherical pulmonary masses to avoid unnecessary diagnostic tests.

Selective common and uncommon imaging manifestations of blunt nonaortic chest trauma: when time is of the essence.

PubMed

Altoos, Rola; Carr, Robert; Chung, Jonathan; Stern, Eric; Nevrekar, Dipti

2015-01-01

This is a pictorial essay in which we review and illustrate a variety of thoracic injuries related to blunt trauma. Non-aortic blunt thoracic trauma can be divided anatomically into injuries of the chest wall, lungs, pleura, mediastinum, and diaphragm. Some injuries involve more than one anatomic compartment, and multiple injuries commonly coexist. This article provides common imaging findings and discussion of both common and uncommon but critical thoracic injuries encountered. Published by Elsevier Inc.

A case of transient lymphangiectasis of the penis.

PubMed

Misson, A; Deswysen, A C; Tennstedt, D; Muschart, X

2014-08-01

Physicians are likely to encounter patients with penis disorders and can be caught off guard by these uncommon pathologies, especially because they occur in a sensitive anatomical location. Here, we report the case of a patient presenting with benign transient lymphangiectasis of the penis (BTLP), including its differential diagnosis and treatment. Conclusion headings: BTLP is not an uncommon pathology and diagnosis is based only on medical history and clinical examination. The differentiation between Mondor's disease and BTLP is not necessary for treatment.

Epidemiology of salivary gland infections.

PubMed

Cascarini, Luke; McGurk, Mark

2009-08-01

This article approaches sialadenitis from a personal perspective based on 15 years of clinical practice limited mainly to salivary gland diseases. Disorders of the salivary glands are uncommon. When they occur, experience in managing the process is diluted over a range of disciplines. The result is that traditional views go unchallenged and are recast unchanged from one textbook to another. Sialadenitis of bacterial origin is a relatively uncommon occurrence today and is normally associated with sialoliths. The most common viral infection of the salivary glands is mumps.

Characterization of Isolates of Salmonella enterica Serovar Stanley, a Serovar Endemic to Asia and Associated with Travel

PubMed Central

Le Hello, Simon; Bortolaia, Valeria; Pulsrikarn, Chaiwat; Nielsen, Eva Møller; Pornruangmong, Srirat; Chaichana, Phattharaporn; Svendsen, Christina Aaby; Weill, François-Xavier; Aarestrup, Frank M.

2012-01-01

Salmonella enterica serovar Stanley (S. Stanley) is a common serovar in Southeast Asia and was the second most common serovar implicated in human salmonellosis in Thailand in the years 2002 to 2007. In contrast, this serovar is relatively uncommon in Europe. The objective of this study was to characterize a collection of S. Stanley strains isolated from Thai (n = 62), Danish (n = 39), and French (n = 24) patients to gain a broader understanding of the genetic diversity, population dynamics, and susceptibility to antimicrobials. All isolates were characterized by pulsed-field gel electrophoresis and antimicrobial susceptibility testing. The molecular mechanisms of resistance to extended-spectrum cephalosporins and plasmid-mediated resistance to quinolones were characterized by PCR and sequencing. Plasmid profiling, replicon typing, and microarray analysis were used to characterize the genetic mechanisms of antimicrobial resistance in 10 extended-spectrum cephalosporinase-producing isolates. Considerable genetic diversity was observed among the isolates characterized with 91 unique XbaI pulsed-field gel electrophoresis (PFGE) patterns, including 17 distinct clusters consisting of two to seven indistinguishable isolates. We found some of the S. Stanley isolates isolated from patients in Europe were acquired during travel to Southeast Asia, including Thailand. The presence of multiple plasmid lineages carrying the extended-spectrum cephalosporinase-encoding blaCMY-2 gene in S. Stanley isolates from the central part of Thailand was confirmed. Our results emphasize that Thai authorities, as well as authorities in other countries lacking prudent use of antimicrobials, should improve the ongoing efforts to regulate antimicrobial use in agriculture and in clinical settings to limit the spread of multidrug-resistant Salmonella isolates and plasmids among humans and pigs in Thailand and abroad. PMID:22205822

Characterization of isolates of Salmonella enterica serovar Stanley, a serovar endemic to Asia and associated with travel.

PubMed

Hendriksen, Rene S; Le Hello, Simon; Bortolaia, Valeria; Pulsrikarn, Chaiwat; Nielsen, Eva Møller; Pornruangmong, Srirat; Chaichana, Phattharaporn; Svendsen, Christina Aaby; Weill, François-Xavier; Aarestrup, Frank M

2012-03-01

Salmonella enterica serovar Stanley (S. Stanley) is a common serovar in Southeast Asia and was the second most common serovar implicated in human salmonellosis in Thailand in the years 2002 to 2007. In contrast, this serovar is relatively uncommon in Europe. The objective of this study was to characterize a collection of S. Stanley strains isolated from Thai (n = 62), Danish (n = 39), and French (n = 24) patients to gain a broader understanding of the genetic diversity, population dynamics, and susceptibility to antimicrobials. All isolates were characterized by pulsed-field gel electrophoresis and antimicrobial susceptibility testing. The molecular mechanisms of resistance to extended-spectrum cephalosporins and plasmid-mediated resistance to quinolones were characterized by PCR and sequencing. Plasmid profiling, replicon typing, and microarray analysis were used to characterize the genetic mechanisms of antimicrobial resistance in 10 extended-spectrum cephalosporinase-producing isolates. Considerable genetic diversity was observed among the isolates characterized with 91 unique XbaI pulsed-field gel electrophoresis (PFGE) patterns, including 17 distinct clusters consisting of two to seven indistinguishable isolates. We found some of the S. Stanley isolates isolated from patients in Europe were acquired during travel to Southeast Asia, including Thailand. The presence of multiple plasmid lineages carrying the extended-spectrum cephalosporinase-encoding bla(CMY-2) gene in S. Stanley isolates from the central part of Thailand was confirmed. Our results emphasize that Thai authorities, as well as authorities in other countries lacking prudent use of antimicrobials, should improve the ongoing efforts to regulate antimicrobial use in agriculture and in clinical settings to limit the spread of multidrug-resistant Salmonella isolates and plasmids among humans and pigs in Thailand and abroad.

Coracoid syndrome: a neglected cause of anterior shoulder pain.

PubMed

Gigante, Antonio; Bottegoni, Carlo; Barbadoro, Pamela

2016-01-01

the present prospective open-label study was designed to gain further insights into a condition thought to constitute a neglected but not uncommon syndrome characterized by anterior shoulder pain and tenderness to palpation over the apex of the coracoid process, not related to rotator cuff or pectoralis minor tendinopathy, long head of the biceps tendon disorders, or instability. The aim was to clarify its prevalence, clinical characteristics, differential diagnosis and response to corticosteroid injections. patients with primary anterior shoulder pain precisely reproduced by deep pressure on the apex of the coracoid process were recruited. Patients with clinical or instrumental signs of other shoulder disorders were excluded. Patients were given an injection of triamcinolone acetonide 40 mg/ml 1 ml at the coracoid trigger point. They were evaluated after 15, 30 and 60 days and at 2 years using Equal Visual Analog Scale (EQ-VAS) and the Italian version of the Simple Shoulder Test (SST). between January 1 and December 31 2010, we treated 15 patients aged 26-66 years. The majority were women (86.67%). At 15 days, 6 (40%) patients reported complete resolution of their symptoms, while 9 (60%) complained of residual symptoms and received another injection. At 30 days, 14 (93.33%) patients were pain-free and very satisfied. At 2 years, the 14 patients who had been asymptomatic at 30 days reported that they had experienced no further pain or impaired shoulder function. The analysis of variance for repeated measures showed a significant effect of time on EQ-VAS and SST scores. the present study documents the existence, and characteristics, of a "coracoid syndrome" characterized by anterior shoulder pain and tenderness to palpation over the apex of the coracoid process and showed that the pain is usually amenable to steroid treatment. This syndrome should be clearly distinguished from anterior shoulder pain due to other causes, in order to avoid inappropriate conservative or surgical treatment. Level IV, therapeutic case series.

Molecular analysis of beta-globin gene mutations among Thai beta-thalassemia children: results from a single center study

PubMed Central

Boonyawat, Boonchai; Monsereenusorn, Chalinee; Traivaree, Chanchai

2014-01-01

Background Beta-thalassemia is one of the most common genetic disorders in Thailand. Clinical phenotype ranges from silent carrier to clinically manifested conditions including severe beta-thalassemia major and mild beta-thalassemia intermedia. Objective This study aimed to characterize the spectrum of beta-globin gene mutations in pediatric patients who were followed-up in Phramongkutklao Hospital. Patients and methods Eighty unrelated beta-thalassemia patients were enrolled in this study including 57 with beta-thalassemia/hemoglobin E, eight with homozygous beta-thalassemia, and 15 with heterozygous beta-thalassemia. Mutation analysis was performed by multiplex amplification refractory mutation system (M-ARMS), direct DNA sequencing of beta-globin gene, and gap polymerase chain reaction for 3.4 kb deletion detection, respectively. Results A total of 13 different beta-thalassemia mutations were identified among 88 alleles. The most common mutation was codon 41/42 (-TCTT) (37.5%), followed by codon 17 (A>T) (26.1%), IVS-I-5 (G>C) (8%), IVS-II-654 (C>T) (6.8%), IVS-I-1 (G>T) (4.5%), and codon 71/72 (+A) (2.3%), and all these six common mutations (85.2%) were detected by M-ARMS. Six uncommon mutations (10.2%) were identified by DNA sequencing including 4.5% for codon 35 (C>A) and 1.1% initiation codon mutation (ATG>AGG), codon 15 (G>A), codon 19 (A>G), codon 27/28 (+C), and codon 123/124/125 (-ACCCCACC), respectively. The 3.4 kb deletion was detected at 4.5%. The most common genotype of beta-thalassemia major patients was codon 41/42 (-TCTT)/codon 26 (G>A) or betaE accounting for 40%. Conclusion All of the beta-thalassemia alleles have been characterized by a combination of techniques including M-ARMS, DNA sequencing, and gap polymerase chain reaction for 3.4 kb deletion detection. Thirteen mutations account for 100% of the beta-thalassemia genes among the pediatric patients in our study. PMID:25525381

A patient with congenital hyperlactataemia and Leigh syndrome: an uncommon mitochondrial variant.

PubMed

Ching, C K; Mak, Chloe M; Au, K M; Chan, K Y; Yuen, Y P; Yau, Eric K C; Ma, Louis C K; Chow, H L; Chan, Albert Y W

2013-08-01

We report an uncommon mitochondrial variant in a baby girl with congenital hyperlactataemia and Leigh syndrome. The patient presented with a single episode of generalised clonic convulsion at day 19, and was found to have isolated and persistent hyperlactataemia ranging from 3.34 to 9.26 mmol/L. She had elevated serum lactate-to-pyruvate ratios of up to 35 and high plasma alanine concentration, indicative of a respiratory chain defect. At the age of 8 months, she developed evolving neurological and imaging features compatible with Leigh syndrome. Genetic testing for common mitochondrial DNA mutations, large mitochondrial DNA deletions, and selected nuclear genes was negative. Further analysis of lymphocyte mitochondrial DNA by sequencing revealed an uncommon heteroplasmic variant, NC_012920.1(MT-ND5):m.13094T>C (p.Val253Ala), which was previously shown to reduce complex I activity. In patients in whom there was a high suspicion of mitochondrial disorder, entire mitochondrial DNA analysis may be warranted if initial screening of common mitochondrial DNA mutations is negative.

Driven by Mutations: The Predictive Value of Mutation Subtype in EGFR-Mutated Non-Small Cell Lung Cancer.

PubMed

Castellanos, Emily; Feld, Emily; Horn, Leora

2017-04-01

EGFR-mutated NSCLC is a genetically heterogeneous disease that includes more than 200 distinct mutations. The implications of mutational subtype for both prognostic and predictive value are being increasingly understood. Although the most common EGFR mutations-exon 19 deletions or L858R mutations-predict sensitivity to EGFR tyrosine kinase inhibitors (TKIs), it is now being recognized that outcomes may be improved in patients with exon 19 deletions. Additionally, 10% of patients will have an uncommon EGFR mutation, and response to EGFR TKI therapy is highly variable depending on the mutation. Given the growing recognition of the genetic and clinical variation seen in this disease, the development of comprehensive bioinformatics-driven tools to both analyze response in uncommon mutation subtypes and inform clinical decision making will be increasingly important. Clinical trials of novel EGFR TKIs should prospectively account for the presence of uncommon mutation subtypes in study design. Copyright © 2016 International Association for the Study of Lung Cancer. Published by Elsevier Inc. All rights reserved.

European and German food legislation facing uncommon foodstuffs.

PubMed

Grabowski, Nils Th; Klein, Günter; López, Antonio Martínez

2013-01-01

In Europe, uncommon foodstuff (UFS, i.e., traditional foods from specific European regions and uncommon ethnic foods from non-EU countries) have been contributing to a diversification of the food supply. E-commerce and specialized retail shops are the main sources for UFS. This article discusses the legal bases for UFS introduction and evaluation. By means of 35 representative UFS, this article analyses the possibilities of trade and veterinary inspection of these products in Germany, comparing European Union and national food legislation with the many idiosyncrasies the UFS presents. Conservatory legislation bans the trade with endangered species (primates, cetaceans, songbirds), but for many other species, this is a complex matter that may ban only subpopulations from trade. Although introduction of legal UFS is regulated (yet complicated), the lack of appropriate definitions, intra-European trade harmonization, and of sufficient scientific knowledge hampers a satisfactory evaluation of many UFSs, for example, reptile meat or terrestrial insects. In these cases, official inspection would only be very basic.

Phenotypic and molecular fingerprinting of fast growing rhizobia of field-grown pigeonpea from the eastern edge of the Brazilian Pantanal.

PubMed

Costa, F M; Schiavo, J A; Brasil, M S; Leite, J; Xavier, G R; Fernandes, P I

2014-01-21

The aim of this study was to evaluate the diversity of rhizobial isolates obtained from root nodules of pigeonpea plants grown at the eastern edge of the Brazilian Pantanal. The bacterial isolates were isolated from root nodules from field-growing pigeonpea grown in two rural settlements of the Aquidauana municipality. The bacterial isolates were characterized phenotypically by means of cultural characterization, intrinsic antibiotic resistance (IAR), salt and high incubation temperature tolerance, and amylolytic and cellulolytic activities. The molecular characterization of the bacterial isolates was carried out using amplified ribosomal DNA restriction analysis (ARDRA) and Box-polymerase chain reaction (PCR) techniques. In addition, the symbiotic performance of selected rhizobial isolates was evaluated in a greenhouse experiment using sterile substrate. The phenotypic characterization revealed that the bacterial strains obtained from pigeonpea root nodules presented characteristics that are uncommon among rhizobial isolates, indicating the presence of new species nodulating the pigeonpea plants in the Brazilian Pantanal. The molecular fingerprinting of these bacterial isolates also showed a highly diverse collection, with both techniques revealing less than 25% similarity among bacterial isolates. The evaluation of symbiotic performance also indicated the presence of microorganisms with high potential to increase the growth and nitrogen content at the shoots of pigeonpea plants. The results obtained in this study indicate the presence of a highly diversified rhizobial community nodulating the pigeonpea at the eastern edge of the Brazilian Pantanal.

Exclusion of MYF5, GSC, RUNX2, and TCOF1 mutation in a case of cerebro-costo-mandibular syndrome.

PubMed

Su, Pen-Hua; Chen, Jia-Yuh; Chiang, Chin-Lung; Ng, Yan-Yan; Chen, Suh-Jen

2010-04-01

Cerebro-costo-mandibular syndrome (CCMS) is an uncommon multiple congenital anomaly syndrome characterized by severe micrognathia, posterior rib-gap defects, and developmental delay. The cause of CCMS is unknown. Genes hypothesized to have a causal role in CCMS, include myogenic factor 5 (MYF5), goosecoid homeobox (GSC) and runt-related transcription factor 2 (RUNX2) [formerly known as core-binding factor (CBFA1)]. We report an infant with typical features of CCMS who, on prenatal ultrasound, was found to have severe micrognathia. We present the first image by three-dimensional computed tomography of posterior rib-defect, and we exclude mutations of the MYF5, GSC, RUNX2, and TCOF1 genes in our patient. Further molecular studies are needed to evaluate the cause of CCMS.