The Subtlety of Age, Gender, and Race Barriers: A Case Study of Early Career African American Female Principals

ERIC Educational Resources Information Center

Jean-Marie, Gaetane

2013-01-01

While all educational leaders face challenges in achieving success, African American female principals often face a unique set of challenges associated with the complexity of their gender, race, and, as examined in this study, age. This case study investigates the experiences of two highly visible, early career African American female principals…

The Unintended and Intended Academic Consequences of Educational Reforms: The Cases of Post-Soviet Estonia, Latvia and Russia

ERIC Educational Resources Information Center

Khavenson, Tatiana; Carnoy, Martin

2016-01-01

In this paper, we try to unravel some of the unintended and intended academic effects associated with post-Soviet educational reforms by focusing on three cases: Estonia, Latvia and Russia. We have chosen this comparison because a unique "natural experiment" in the three countries allows us to compare the changing academic performance on…

Takayasu's arteritis presenting with focal periostitis affecting two limbs.

PubMed

Kim, J E; Kolh, E M; Kim, D K

1998-12-31

Takayasu's arteritis (TA) is a vasculitis of large and medium sized arteries. Involvement of bone in TA is very rare. We report a case of young woman who presented with multiple painful bone lesions which were identified as periostitis with new bone formation associated with TA. Our case is unique in that bony involvement in TA could occur independent of vascular stenosis.

Mental representation of normal subjects about the sources of knowledge in different semantic categories and unique entities.

PubMed

Gainotti, Guido; Ciaraffa, Francesca; Silveri, Maria Caterina; Marra, Camillo

2009-11-01

According to the "sensory-motor model of semantic knowledge," different categories of knowledge differ for the weight that different "sources of knowledge" have in their representation. Our study aimed to evaluate this model, checking if subjective evaluations given by normal subjects confirm the different weight that various sources of knowledge have in the representation of different biological and artifact categories and of unique entities, such as famous people or monuments. Results showed that the visual properties are considered as the main source of knowledge for all the living and nonliving categories (as well as for unique entities), but that the clustering of these "sources of knowledge" is different for biological and artifacts categories. Visual data are, indeed, mainly associated with other perceptual (auditory, olfactory, gustatory, and tactual) attributes in the mental representation of living beings and unique entities, whereas they are associated with action-related properties and tactile information in the case of artifacts.

Neutropenic enterocolitis (typhlitis) associated with infectious mononucleosis.

PubMed

Siğirci, Ahmet; Akinci, Ayşehan; Ozgen, Unsal; Ozen, Metehan

2006-02-01

Neutropenic enterocolitis (typhlitis) is an unusual acute complication of neutropenia, most often associated with leukaemia and lymphoma and characterized by segmental caecal and ascending colonic ulceration that may progress to necrosis, perforation, and septicaemia. We present a unique case of an 8-year-old girl with recently diagnosed infectious mononucleosis having findings consistent with typhlitis on abdominal CT.

Alzheimer's Disease Phenotypes and Genotypes Associated with Mutations in Presenilin 2

ERIC Educational Resources Information Center

Jayadev, Suman; Leverenz, James B.; Steinbart, Ellen; Stahl, Justin; Klunk, William; Yu, Cheng-En; Bird, Thomas D.

2010-01-01

Mutations in presenilin 2 are rare causes of early onset familial Alzheimer's disease. Eighteen presenilin 2 mutations have been reported, although not all have been confirmed pathogenic. Much remains to be learned about the range of phenotypes associated with these mutations. We have analysed our unique collection of 146 affected cases in 11…

Paedatric Autoimmune Neuropsychiatric Disorder Associated with Streptococcal Infection in an Indian Adolescent--A Case Report

ERIC Educational Resources Information Center

Sharma, Sachin; Vaish, Supriya; Chopra, Saurabh; Singh, Vindyaprakash; Sharma, Priyanka

2012-01-01

Pediatric Autoimmune Neuropsychiatric Disorders associated with Streptococcal infection (PANDAS) is a unique constellation of signs and symptoms that exist in a subset of children with rapid onset or exacerbation of obsessive-compulsive disorder (OCD) and/or tic disorders due to an initial autoimmune reaction to a Group A Beta Hemolytic…

A unique case of growth hormone and human chorionic gonadotropin treatment in a 45,X male with Y: autosome translocation and literature review.

PubMed

Mareri, Arianna; Iezzi, MariaLaura; Salvatore, Alessia; Ligas, Claudio; D'Alessandro, Elvira

2016-07-01

Maleness associated with a 45,X karyotype is a rare condition in childhood. It is usually diagnosed in adult age because of infertility. We report a unique case of an unbalanced translocation t(Y;21) in a 14-year-old boy with 45,X karyotype referred because of short stature, thin habitus and puberty delay. Hormone analysis showed low serum levels of basal testosterone, insulin-like growth factor (IGF-I) and gonadotrophins. Diagnosis of GH deficiency and puberty delay were made. He was treated with human chorionic gonadotropin (hCG) and GH therapy, respectively, for 6 and 24 months.

"Numb-Leg" in a CrossFit Athlete: A Case Presentation.

PubMed

Esser, Stephan; Thurston, Mckennan; Nalluri, Krishna; Muzaurieta, Aurelio

2017-08-01

Participation in CrossFit athletics and Olympic-style lifting by the general populace has rapidly increased in the last 10 years. Such athletic engagement poses unique, inadequately defined risks to the participant. We describe the case of a 36-year-old man who presented to an outpatient sports medicine clinic with 6 weeks of numbness and tingling in the lateral right proximal thigh. After thorough examination and electromyographic testing, he was found to have a lateral femoral cutaneous neuropathy caused by performing supine gluteal bridges with a weighted barbell resting across his anterior thighs. His case exemplifies the unique exercise demands and injury risks of CrossFit-style exercise. Sports medicine providers should be familiar with both trends in sports/fitness participation and the associated unique risks that such sports pose, so as to adequately counsel patients on safety of participation and to correctly identify the cause of injury when evaluating patients in the clinical setting. V. Copyright © 2017 American Academy of Physical Medicine and Rehabilitation. Published by Elsevier Inc. All rights reserved.

Meningoencephalitis associated with non-tuberculous mycobacteria

PubMed Central

O’Dwyer, John Philip; O’Connor, John Gerard; McDermott, Helene; Sheehan, Stella; Fanning, Noel Francis; Corcoran, Gerard Dan; Sweeney, Brian

2009-01-01

Non-tuberculous mycobacteria are fastidious, difficult organisms to identify, but are increasingly associated with human disease. We report a case of meningoencephalitis associated with Mycobacterium malmoense and Mycobacterium interjectum co-isolation from cerebrospinal fluid. Recognition of these slow growing mycobacteria is important due to differences from standard mycobacterial treatments. We illustrate the rare occurrence of M malmoense as a central nervous system isolate, appearing almost unique among non-tuberculous mycobacteria. PMID:22110557

A Unique Case of Malignant Pleuropericardial Effusion: HHV-8-Unrelated PEL-Like Lymphoma—A Case Report and Review of the Literature

PubMed Central

Mohammad, Farhan; Siddique, Muhammad Neaman; Siddiqui, Faraz; Popalzai, M.; Asgari, Masoud; Odaimi, Marcel

2014-01-01

Primary effusion lymphoma (PEL) or body cavity lymphoma is a rare type of extra nodal lymphoma of B-cell origin that presents as lymphomatous effusion(s) without any nodal enlargement or tumor masses. It belongs to the group of AIDS related non-Hodgkin's lymphomas. First described in 1996 in HIV infected individuals who were coinfected with Kaposi's sarcoma-associated herpesvirus (KSHV) or HHV-8 virus, it was included as a separate entity in WHO classification of tumors of hematopoietic and lymphoid tissue in the year 2001. The definition included association with HHV-8 virus as a mandatory diagnostic criterion. However, cases were later reported where PEL-like disease process was diagnosed in HHV-8 negative patients. This was eventually recognized as a rare but distinct entity termed as “HHV-8-unrelated PEL-like lymphoma”. Herein, we are reporting a case of an elderly patient who presented with a large pleuropericardial effusion and was eventually diagnosed with this entity. Till date, only around 50 cases of HHV-8-unrelated PEL-like lymphoma have been reported and our case being EBV, HIV, and Hepatitis C negative makes it very unique and rare occurrence. We are also presenting a review of relevant literature focused mainly on comparing outcomes in patients treated with and without chemotherapy. PMID:24716045

Chromophobe hepatocellular carcinoma with abrupt anaplasia: a proposal for a new subtype of hepatocellular carcinoma with unique morphological and molecular features

PubMed Central

Wood, Laura D; Heaphy, Christopher M; Daniel, Hubert Darius-J; Naini, Bita V; Lassman, Charles R; Arroyo, May R; Kamel, Ihab R; Cosgrove, David P; Boitnott, John K; Meeker, Alan K; Torbenson, Michael S

2014-01-01

Hepatocellular carcinomas exhibit heterogeneous morphologies by routine light microscopy. Although some morphologies represent insignificant variations in growth patterns, others may represent unrecognized subtypes of hepatocellular carcinoma. Identification of these subtypes could lead to separation of hepatocellular carcinomas into discrete groups with unique underlying genetic changes, prognosis, or therapeutic responses. In order to identify potential subtypes, two pathologists independently screened a cohort of 219 unselected hepatocellular carcinoma resection specimens and divided cases into potential subtypes. One of these promising candidate subtypes was further evaluated using histological and molecular techniques. This subtype was characterized by a unique and consistent set of histological features: smooth chromophobic cytoplasm, abrupt focal nuclear anaplasia (small clusters of tumor cells with marked nuclear anaplasia in a background of tumor cells with bland nuclear cytology), and scattered microscopic pseudocysts—we designate this variant as ‘chromophobe hepatocellular carcinoma with abrupt anaplasia’. Thirteen cases were identified (6% of all hepatocellular carcinomas), including 6 men and 7 women with an average age of 61 years. Six cases occurred in cirrhotic livers. Serum AFP was elevated in 6 out of 10 cases. There were a variety of underlying liver diseases, but cases were enrichment for chronic hepatitis B, P = 0.006. Interestingly, at the molecular level, this variant was strongly associated with the alternative lengthening of telomere (ALT) phenotype by telomere FISH. ALT is a telomerase-independent mechanism of telomere maintenance and is found in approximately 8% of unselected hepatocellular carcinomas. In contrast, 11/12 (92%) of the cases of chromophobe hepatocellular carcinoma with abrupt anaplasia were ALT-positive. In summary, we propose that chromophobe hepatocellular carcinoma with abrupt anaplasia represents a new subtype of hepatocellular carcinoma with unique morphological and molecular features. PMID:23640129

Chromophobe hepatocellular carcinoma with abrupt anaplasia: a proposal for a new subtype of hepatocellular carcinoma with unique morphological and molecular features.

PubMed

Wood, Laura D; Heaphy, Christopher M; Daniel, Hubert Darius-J; Naini, Bita V; Lassman, Charles R; Arroyo, May R; Kamel, Ihab R; Cosgrove, David P; Boitnott, John K; Meeker, Alan K; Torbenson, Michael S

2013-12-01

Hepatocellular carcinomas exhibit heterogeneous morphologies by routine light microscopy. Although some morphologies represent insignificant variations in growth patterns, others may represent unrecognized subtypes of hepatocellular carcinoma. Identification of these subtypes could lead to separation of hepatocellular carcinomas into discrete groups with unique underlying genetic changes, prognosis, or therapeutic responses. In order to identify potential subtypes, two pathologists independently screened a cohort of 219 unselected hepatocellular carcinoma resection specimens and divided cases into potential subtypes. One of these promising candidate subtypes was further evaluated using histological and molecular techniques. This subtype was characterized by a unique and consistent set of histological features: smooth chromophobic cytoplasm, abrupt focal nuclear anaplasia (small clusters of tumor cells with marked nuclear anaplasia in a background of tumor cells with bland nuclear cytology), and scattered microscopic pseudocysts--we designate this variant as 'chromophobe hepatocellular carcinoma with abrupt anaplasia'. Thirteen cases were identified (6% of all hepatocellular carcinomas), including 6 men and 7 women with an average age of 61 years. Six cases occurred in cirrhotic livers. Serum AFP was elevated in 6 out of 10 cases. There were a variety of underlying liver diseases, but cases were enrichment for chronic hepatitis B, P=0.006. Interestingly, at the molecular level, this variant was strongly associated with the alternative lengthening of telomere (ALT) phenotype by telomere FISH. ALT is a telomerase-independent mechanism of telomere maintenance and is found in approximately 8% of unselected hepatocellular carcinomas. In contrast, 11/12 (92%) of the cases of chromophobe hepatocellular carcinoma with abrupt anaplasia were ALT-positive. In summary, we propose that chromophobe hepatocellular carcinoma with abrupt anaplasia represents a new subtype of hepatocellular carcinoma with unique morphological and molecular features.

The Dispersion Tensor and Its Unique Minimizer in Hashin-Shtrikman Micro-structures

NASA Astrophysics Data System (ADS)

Bălilescu, Loredana; Conca, Carlos; Ghosh, Tuhin; San Martín, Jorge; Vanninathan, Muthusamy

2018-05-01

In this paper, we introduce a macroscopic quantity, namely the dispersion tensor or the Burnett coefficients in the class of generalized Hashin-Shtrikman micro-structures (Tartar in The general theory of homogenization, volume 7 of Lecture notes of the Unione Matematica Italiana, Springer, Berlin, p 281, 2009). In the case of two-phase materials associated with the periodic Hashin-Shtrikman structures, we settle the issue that the dispersion tensor has a unique minimizer, which is the so called Apollonian-Hashin-Shtrikman micro-structure.

Gut microbial profile analysis by MiSeq sequencing of pancreatic carcinoma patients in China

PubMed Central

Xie, Haiyang; Li, Ang; Lu, Haifeng; Xu, Shaoyan; Zhou, Lin; Zhang, Hua; Cui, Guangying; Chen, Xinhua; Liu, Yuanxing; Wu, Liming; Qin, Nan; Sun, Ranran; Wang, Wei; Li, Lanjuan; Wang, Weilin; Zheng, Shusen

2017-01-01

Pancreatic carcinoma (PC) is a lethal cancer. Gut microbiota is associated with some risk factors of PC, e.g. obesity and types II diabetes. However, the specific gut microbial profile in clinical PC in China has never been reported. This prospective study collected 85 PC and 57 matched healthy controls (HC) to analyze microbial characteristics by MiSeq sequencing. The results showed that gut microbial diversity was decreased in PC with an unique microbial profile, which partly attributed to its decrease of alpha diversity. Microbial alterations in PC featured by the increase of certain pathogens and lipopolysaccharides-producing bacteria, and the decrease of probiotics and butyrate-producing bacteria. Microbial community in obstruction cases was separated from the un-obstructed cases. Streptococcus was associated with the bile. Furthermore, 23 microbial functions e.g. Leucine and LPS biosynthesis were enriched, while 13 functions were reduced in PC. Importantly, based on 40 genera associated with PC, microbial markers achieves a high classification power with AUC of 0.842. In conclusion, gut microbial profile was unique in PC, providing a microbial marker for non-invasive PC diagnosis. PMID:29221120

Severely Impaired Control of Bacterial Infections in a Patient With Cystic Fibrosis Defective in Mucosal-Associated Invariant T Cells.

PubMed

Pincikova, Terezia; Paquin-Proulx, Dominic; Moll, Markus; Flodström-Tullberg, Malin; Hjelte, Lena; Sandberg, Johan K

2018-05-01

Here we report a unique case of a patient with cystic fibrosis characterized by severely impaired control of bacterial respiratory infections. This patient's susceptibility to such infections was much worse than expected from a cystic fibrosis clinical perspective, and he died at age 22 years despite extensive efforts and massive use of antibiotics. We found that this severe condition was associated with a near-complete deficiency in circulating mucosal-associated invariant T (MAIT) cells as measured at several time points. MAIT cells are a large, recently described subset of T cells that recognize microbial riboflavin metabolites presented by the highly evolutionarily conserved MR1 molecules. The MAIT cell deficiency was specific; other T-cell subsets were intact. Even though this is only one unique case, the findings lend significant support to the emerging role of MAIT cells in mucosal immune defense and suggest that MAIT cells may significantly modify the clinical phenotype of respiratory diseases. Copyright © 2018 American College of Chest Physicians. Published by Elsevier Inc. All rights reserved.

Impact of Accreditation Actions: A Case Study of Two Colleges within Western Association of Schools and Colleges' Accrediting Commission for Community and Junior Colleges

ERIC Educational Resources Information Center

Patel, Dipte D.

2012-01-01

The United States is unique with it non-governmental peer-review based accreditation system for oversight of higher education for quality assurance and improvement. In a triad relationship with federal and state governments for accountability, accreditation associations are the designated gatekeeper for federal financial assistance. Therefore,…

Neonate with VACTERL Association and a Branchial Arch Anomaly without Hydrocephalus

PubMed Central

Velazquez, Danitza; Pereira, Elaine; Havranek, Thomas

2015-01-01

VACTERL (vertebral anomalies, anal atresia, cardiac defect, tracheoesophageal fistula, renal anomaly, limb anomalies) is an association of anomalies with a wide spectrum of phenotypic expression. While the majority of cases are sporadic, there is evidence of an inherited component in a small number of patients as well as the potential influence of nongenetic risk factors (maternal diabetes mellitus). Presence of hydrocephalus has been reported in VACTERL patients (VACTERL-H) in the past, with some displaying branchial arch anomalies. We report the unique case of an infant of diabetic mother with VACTERL association and a branchial arch anomaly—in the absence of hydrocephalus. PMID:26929876

Neonate with VACTERL Association and a Branchial Arch Anomaly without Hydrocephalus.

PubMed

Velazquez, Danitza; Pereira, Elaine; Havranek, Thomas

2016-03-01

VACTERL (vertebral anomalies, anal atresia, cardiac defect, tracheoesophageal fistula, renal anomaly, limb anomalies) is an association of anomalies with a wide spectrum of phenotypic expression. While the majority of cases are sporadic, there is evidence of an inherited component in a small number of patients as well as the potential influence of nongenetic risk factors (maternal diabetes mellitus). Presence of hydrocephalus has been reported in VACTERL patients (VACTERL-H) in the past, with some displaying branchial arch anomalies. We report the unique case of an infant of diabetic mother with VACTERL association and a branchial arch anomaly-in the absence of hydrocephalus.

Spinal cord infarction in carriers of methylenetetrahydrofolate reductase-polymorphism-like unique risk factor: report of two cases.

PubMed

Tejero-Fernández, V; Fernández-Rodríguez, I; Membrilla-Mesa, M D; Arroyo-Morales, M

2014-11-01

A case report. To present two cases of spinal cord infarction (SCI) in carriers of the C677T methylenetetrahydrofolate reductase (MTHFR) polymorphism. Physical Medicine and Rehabilitation Department, Section for Rehabilitation and Traumatology, Hospital Virgen de las Nieves, Granada, Spain. Two cases are presented, one with SCI at the C7 level American Spinal Injury Association (ASIA) A and one at the C5 level (ASIA A). One patient presented an acute onset of tetraplegia and the other a centromedular syndrome. In both cases the patients were carriers of the MTHFR polymorphism, which is a unique risk factor. Increased blood levels of homocysteine related to mutation of the MTHFR gene increase the risk of a thrombotic episode, triggering the development of SCI. These two cases increase the limited number reported in the recent literature regarding MTHFR polymorphism carriers suffering from thrombotic SCI. MTHFR mutation can be considered a risk factor for thrombotic SCI, but it is not the sole risk factor. We propose that a consensus regarding the inclusion of anticoagulation treatment after confirmation of the diagnosis in these patients is needed.

[Malacoplakia of the large intestine, bladder and retroperitoneum: a case report].

PubMed

Vattimo, A; Lupinacci, R A; Kerzner, A; da Silva, J H

1990-01-01

The authors present a case of malakoplakia, involving colon, rectum, bladder and retroperitoneum. This rare pathology, generally associated to Escherichia coli infections, result in a granulomatous disease, that can involve one or more organs. Nowadays, it is believed that the illness is due to a failure in the bactericide activity of the macrophage. This case, the first reported in our country, was treated clinically with ascorbic acid and trimethoprim-sulfamethoxazole, and is also unique in the world literature.

Rare case-series of electrocautery burn following off-pump coronary artery bypass grafting

PubMed Central

Sabzi, Feridoun; Niazi, Mojtaba; Ahmadi, Alireza

2014-01-01

Abstract: With an increasing number of off-pump coronary artery surgery procedures in high-risk patients with coagulopathy, including renal failure, hepatic failure and anticoagulant drug-using patients, the frequency of related complications such as repeated exploration for bleeding is also increasing. The associated co-morbidity and repeated use of electrocautery in postoperative bleeding leaves patients susceptible to electrocautery ulcers. In this case series, rare cases of cautery burn with unique causative mechanisms are described. PMID:23669602

Quality of Inpatient Pediatric Case Management for Four Leading Causes of Child Mortality at Six Government-Run Ugandan Hospitals

PubMed Central

Sears, David; Mpimbaza, Arthur; Kigozi, Ruth; Sserwanga, Asadu; Chang, Michelle A.; Kapella, Bryan K.; Yoon, Steven; Kamya, Moses R.; Dorsey, Grant; Ruel, Theodore

2015-01-01

Background A better understanding of case management practices is required to improve inpatient pediatric care in resource-limited settings. Here we utilize data from a unique health facility-based surveillance system at six Ugandan hospitals to evaluate the quality of pediatric case management and the factors associated with appropriate care. Methods All children up to the age of 14 years admitted to six district or regional hospitals over 15 months were included in the study. Four case management categories were defined for analysis: suspected malaria, selected illnesses requiring antibiotics, suspected anemia, and diarrhea. The quality of case management for each category was determined by comparing recorded treatments with evidence-based best practices as defined in national guidelines. Associations between variables of interest and the receipt of appropriate case management were estimated using multivariable logistic regression. Results A total of 30,351 admissions were screened for inclusion in the analysis. Ninety-two percent of children met criteria for suspected malaria and 81% received appropriate case management. Thirty-two percent of children had selected illnesses requiring antibiotics and 89% received appropriate antibiotics. Thirty percent of children met criteria for suspected anemia and 38% received appropriate case management. Twelve percent of children had diarrhea and 18% received appropriate case management. Multivariable logistic regression revealed large differences in the quality of care between health facilities. There was also a strong association between a positive malaria diagnostic test result and the odds of receiving appropriate case management for comorbid non-malarial illnesses - children with a positive malaria test were more likely to receive appropriate care for anemia and less likely for illnesses requiring antibiotics and diarrhea. Conclusions Appropriate management of suspected anemia and diarrhea occurred infrequently. Pediatric quality improvement initiatives should target deficiencies in care unique to each health facility, and interventions should focus on the simultaneous management of multiple diagnoses. PMID:25992620

Unique Association of Rare Cardiovascular Disease in an Athlete With Ventricular Arrhythmias.

PubMed

Santomauro, V; Contursi, M; Dellegrottaglie, S; Borsellino, G

2015-01-01

Ventricular arrhythmias are a leading cause of non-elegibility to competitive sport. The failure to detect a significant organic substrate in the initial stage of screening does not preclude the identification of structural pathologies in the follow-up by using advanced imaging techniques. Here we report the case of a senior athlete judged not elegible because an arrhythmia with the morphology consistent with the origin of the left ventricle, in which subsequent execution of a cardiac MR and a thoracic CT scan has allowed the identification of an unique association between an area of myocardial damage, probable site of origine of the arrhythma, and a rare aortic malformation.

[Association between Williams syndrome and adrenal insufficiency].

PubMed

Rchachi, Meryem; Larwanou, Maazou Mahamane; El Ouahabi, Hanan; Ajdi, Farida

2017-01-01

Williams syndrome is a developmental disorder including dysmorphia, cardiovascular malformations and a specific neuropsychological profile together with other associated disorders. We report the case of a 17-year old girl, born of a non-inbred marriage, with Williams syndrome discovered during an assessment of degree of failure to thrive. Its association with primary adrenal insufficiency makes it unique. Diagnosis is confirmed by cytogenetic and molecular analysis. Its management consists of the implementation of treatment for adrenal insufficiency associated with a clinico-biological monitoring.

Progressive hemifacial atrophy (Parry-Romberg syndrome). Case report.

PubMed

Mazzeo, N; Fisher, J G; Mayer, M H; Mathieu, G P

1995-01-01

Progressive hemifacial atrophy (Parry-Romberg syndrome) is a slowly progressing facial atrophy of subcutaneous fat and the wasting of associated skin, cartilage, and bone. This disorder includes an active progressive phase (2 to 10 years) followed by a burning out of the atrophic process with subsequent stability. This article presents a review of the literature and a case report with unique dental involvement as a result of this disease process.

A unique case of intracorneal aberrant lenticular rest.

PubMed

Adulkar, Namrata; Santhi, R; Kim, Usha

2013-06-01

Phakomatous chorsitomas are rare congenital tumors of lenticular anlage believed to be caused by invagination of surface ectoderm into the mesoderm. They may present as a mass lesion in the eyelid or in the orbit. We report a rare case of lenticular anlage occurring within the corneal stroma in a 6-month-old boy. Copyright © 2013 American Association for Pediatric Ophthalmology and Strabismus. Published by Mosby, Inc. All rights reserved.

Thrombosis of digital arteries associated with tamoxifen use: case report.

PubMed

Hutchison, Richard L; Rayan, Ghazi M

2012-02-01

Arterial thrombosis in the upper extremity occurs often at the wrist. We report a unique case of thrombosis that involved multiple digital arteries, without radial or ulnar artery involvement, which developed only after using tamoxifen despite chronic occupational blunt percussive hand use. Revascularization was achieved after thrombectomy. Multiple digital arterial thromboses may complicate the use of tamoxifen. Thieme Medical Publishers 333 Seventh Avenue, New York, NY 10001, USA.

Absent circle of Willis with vascular pollarding in an adult with colpocephaly: A developmental perspective

PubMed Central

Verghese, Renjan; Paul, Divyan

2015-01-01

Absent circle of Willis (COW) has been described in cases of severe forms of cerebral developmental anomalies such as alobar prosencephaly. However, there are no reports of absent COW in patients with a milder form of cerebral abnormality such as colpocephaly. We report a unique case of an adult with colpocephaly and absent COW and discuss their association from a developmental perspective. PMID:26443299

Nonthyroid Metastasis to the Thyroid Gland: Case Series and Review with Observations by Primary Pathology.

PubMed

Russell, Jonathon O; Yan, Kenneth; Burkey, Brian; Scharpf, Joseph

2016-12-01

Nonthyroid metastases to the thyroid gland can cause morbidity, including dysphagia, dysphonia, and airway compromise. Because metastatic malignancies portend a poor prognosis, obtaining equipoise between treatment morbidity and local disease progression is paramount. We reviewed cases of nonthyroid metastases to determine treatment and prognostic recommendations. Case series with chart review. Tertiary care hospital. We searched PubMed for reported cases between 1994 and September 2013 using search terms as follows: any combination of primary tumor locations and thyroid, as well as the terms thyroid and metastasis. Only unique cases of nonthyroid metastases were included. Combined with 17 additional tumors at our own institution, we found 818 unique nonthyroid metastases, of which 384 had management and survival data available. Renal cell carcinoma was most common, presenting in 293 (35.8%) patients, followed by lung and gastrointestinal malignancies. Patients were treated with total thyroidectomy (34.0%), subtotal thyroidectomy including lobectomy (32.6%), and no surgery (33.5%). Surgical management was associated with improved survival duration (P < .01). Locoregional recurrence was less likely in patients treated with total versus partial thyroidectomy (4.8% vs 13%). Extent of surgical management did not have a significant effect on patient survival. Delayed presentation was associated with improved survival duration (P = .01). Nonthyroid metastases to the thyroid gland are unusual tumors. Surgical intervention is associated with improved survival, but expected morbidity of untreated tumors is difficult to assess. Site of origin, time to diagnosis, and surgical approach are related to survival and recurrence rates. © American Academy of Otolaryngology—Head and Neck Surgery Foundation 2016.

Mutation in LEMD3 (Man1) Associated with Osteopoikilosis and Late-Onset Generalized Morphea: A New Buschke-Ollendorf Syndrome Variant

PubMed Central

Korman, Benjamin; Wei, Jun; Laumann, Anne; Ferguson, Polly; Varga, John

2016-01-01

Introduction. Buschke-Ollendorf syndrome (BOS) is an uncommon syndrome characterized by osteopoikilosis and other bone abnormalities, accompanied by skin lesions, most frequently connective tissue nevi. BOS is caused by mutations in the LEMD3 gene, which encodes the inner nuclear membrane protein Man1. We describe a unique case of osteopoikilosis associated with late-onset localized scleroderma and familial LEMD3 mutations. Case Report. A 72-year-old woman presented with adult-onset diffuse morphea and bullous skin lesions. Evaluation revealed multiple hyperostotic lesions (osteopoikilosis) suggestive of BOS. DNA sequencing identified a previously undescribed nonsense mutation (Trp621X) in the LEMD3 gene encoding Man1. Two additional family members were found to have osteopoikilosis and carry the same LEMD3 mutation. Conclusions and Relevance. We report a unique familial LEMD3 mutation in an individual with osteopoikilosis and late-onset morphea. We propose that this constellation represents a novel syndromic variant of BOS. PMID:27382493

Herpes zoster ophthalmicus and strabismus: a unique cause of secondary Brown syndrome.

PubMed

Broderick, Kevin M; Raymond, William R; Boden, John H

2017-08-01

Herpes zoster ophthalmicus can be associated with a variety of ocular and visual sequelae, including isolated or even multiple cranial neuropathies, potentially affecting the oculomotor, trochlear, or abducens nerves. We report a case of a secondary Brown syndrome following resolution of a unilateral isolated trochlear nerve palsy associated with herpes zoster ophthalmicus in an immunocompetent 57-year-old man. Published by Elsevier Inc.

Ex Vivo Reconstruction and Autotransplantation for Hilar Renal Artery Aneurysms in Patients with Congenital Anomalies.

PubMed

Adeyemi, Jaiyeola; Johnson, Jacob; Rits, Yevgeniy; Akingba, A George; Rubin, Jeffrey

2018-02-01

Renal artery aneurysms (RAAs) are an uncommon finding but are more often associated with other congenital disorders. The complex (hilar) RAAs constitute a subset of RAAs that present a therapeutic dilemma for the vascular surgeon because of their anatomic location. This dilemma worsens when hilar RAAs occur with a solitary kidney where organ preservation is vital. Ex vivo reconstruction with autotransplantation is especially suitable for hilar RAAs, even when they are associated with a solitary kidney. We report 2 of such cases of RAAs with a solitary kidney in patients with pertinent congenital anomalies. In 1 case, the hilar RAA was associated with a significant accessory renal artery, whereas in the other case, the hilar RAA was associated with a significant connective tissue disorder. Ex vivo reconstruction and autotransplantation was successful in both cases; however, treatment modalities had to be adapted to the patient's unique conditions. Copyright © 2017 Elsevier Inc. All rights reserved.

Diprosopus: a unique case and review of the literature.

PubMed

Wu, June; Staffenberg, David A; Mulliken, John B; Shanske, Alan L

2002-12-01

We present a case of partial facial duplication in a male infant. The clinical, radiological, and laboratory findings for this patient are described, followed by a review of the literature. Craniofacial duplication is a rare form of conjoined twinning and presents in a wide spectrum, from dicephalus to diprosopus to partial facial duplication. Many of these cases can be diagnosed prenatally. Prenatal assessment of our patient revealed only agenesis of the corpus callosum. The pathogenesis is believed to involve duplication of the notochord. Where there are more severe associated anomalies, the prognosis is poor. Partial facial duplication, as in our case, is associated with fewer anomalies, and the prognosis is better. Symmetry and an excess of tissue, rather than deficiency, favor a positive result. Copyright 2002 Wiley-Liss, Inc.

Giant hydronephrosis in a case of ureterocele with duplex system: an entity yet not reported.

PubMed

Aeron, Ruchir; Sokhal, Ashok Kumar; Kumar, Manoj; Sankhwar, Satyanarayan

2017-08-10

Ureterocele, which is a cystic dilatation of the terminal ureter, is usually associated with the upper moiety in a case of the duplex system. Giant hydronephrosis, a rare entity, is usually due to pelviureteric junction obstruction and is usually diagnosed in infants and children. We report a unique case of a unilateral complete duplex system with ureterocele with giant hydronephrosis of the upper moiety in an adult woman presenting as an abdominal lump. To the best of our knowledge, this is the first case of giant hydronephrosis associated with ureterocele in an adult patient. © BMJ Publishing Group Ltd (unless otherwise stated in the text of the article) 2017. All rights reserved. No commercial use is permitted unless otherwise expressly granted.

Ruptured Left Gastric Artery Aneurysm: Unique Presentation with Hemothorax and Hemomediastinum

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

Lee, Michael K.S., E-mail: mkslee@optusnet.com.au; Vrazas, John I.

2006-06-15

Although splanchnic artery aneurysms are uncommon and remain mostly asymptomatic, they are associated with a high mortality rate when they rupture. We discuss the case of a 66-year-old woman who had successful embolization of a left gastric artery aneurysm after presenting with acute chest pain and the unusual computed tomography findings of hemothorax and hemomediastinum. To our knowledge, only one other similar case has been published in the literature.

Reflection of a therapeutic touch experience: case study 2.

PubMed

Green, C A

1998-02-01

The purpose of this case study was to explore the experience of both giving and receiving Therapeutic Touch. A subjective account of the Therapeutic Touch experience is given in an attempt to throw light on its unique creative and therapeutic qualities. In most instances it was shown that the experience of both giving and receiving Therapeutic Touch was a parallel experience. This case study explores the effects of Therapeutic Touch on a client experiencing pain and associated anxiety. Whilst a response to treatment was observed, the need for further case studies and research studies in this area was identified.

Sentinel case of group A beta-hemolytic streptococcus causing constrictive pericarditis presenting as hypogammaglobulinemia.

PubMed

Ahmadian, Homayoun R; Tankersley, Michael; Otto, Hans

2011-05-01

This is a unique case of a previously healthy 7-year-old boy, which highlights the importance of considering immunodeficiency when a rare infection occurs. In the following case report, the patient develops constrictive pericarditis secondary to group A beta-hemolytic streptococcal infection. As a result of this infection, we speculate that he develops hypogammaglobulinemia secondary to the documented association between constrictive pericarditis and intestinal lymphangiectasia because an extensive work-up for a primary immunodeficiency was negative. This is the first case ever to present constrictive pericarditis because of group A beta-hemolytic streptococcal infection.

On the long time behavior of non-autonomous Lotka-Volterra models with diffusion via the sub-supertrajectory method

NASA Astrophysics Data System (ADS)

Langa, José A.; Rodríguez-Bernal, Aníbal; Suárez, Antonio

In this paper we study in detail the geometrical structure of global pullback and forwards attractors associated to non-autonomous Lotka-Volterra systems in all the three cases of competition, symbiosis or prey-predator. In particular, under some conditions on the parameters, we prove the existence of a unique nondegenerate global solution for these models, which attracts any other complete bounded trajectory. Thus, we generalize the existence of a unique strictly positive stable (stationary) solution from the autonomous case and we extend to Lotka-Volterra systems the result for scalar logistic equations. To this end we present the sub-supertrajectory tool as a generalization of the now classical sub-supersolution method. In particular, we also conclude pullback and forwards permanence for the above models.

Amnesia Associated with Bilateral Hippocampal and Bilateral Basal Ganglia Lesions in Anoxia with Stimulant Use

PubMed Central

Haut, Marc W.; Hogg, Jeffery P.; Marshalek, Patrick J.; Suter, Blair C.; Miller, Liv E.

2017-01-01

We report a case of a 55-year-old man with ischemic lesions of the bilateral hippocampus and bilateral basal ganglia following a myocardial infarction during an episode of multiple drug use with subsequent anoxia requiring resuscitation. He presented for a neuropsychological evaluation with an anterograde amnesia for both explicit and procedural memory. There are two main points to this case, the unique aspects of the bilateral multifocal lesions and the functional, cognitive impact of these lesions. We hypothesize that his rare focal bilateral lesions of both the hippocampus and basal ganglia are a result of anoxia acting in synergy with his stimulant drug use (cocaine and/or 3,4-methylenedioxy-methamphetamine). Second, his unique lesions produced an explicit and implicit/procedural anterograde amnesia. PMID:28228745

Amnesia Associated with Bilateral Hippocampal and Bilateral Basal Ganglia Lesions in Anoxia with Stimulant Use.

PubMed

Haut, Marc W; Hogg, Jeffery P; Marshalek, Patrick J; Suter, Blair C; Miller, Liv E

2017-01-01

We report a case of a 55-year-old man with ischemic lesions of the bilateral hippocampus and bilateral basal ganglia following a myocardial infarction during an episode of multiple drug use with subsequent anoxia requiring resuscitation. He presented for a neuropsychological evaluation with an anterograde amnesia for both explicit and procedural memory. There are two main points to this case, the unique aspects of the bilateral multifocal lesions and the functional, cognitive impact of these lesions. We hypothesize that his rare focal bilateral lesions of both the hippocampus and basal ganglia are a result of anoxia acting in synergy with his stimulant drug use (cocaine and/or 3,4-methylenedioxy-methamphetamine). Second, his unique lesions produced an explicit and implicit/procedural anterograde amnesia.

Crossed Unfused Ectopic Pelvic Kidneys: A Case Illustration.

PubMed

Degheili, Jad A; AbuSamra, Murad M; El-Merhi, Fadi; El-Hajj, Albert

2018-01-01

Crossed unfused ectopia constitutes a very rare variant of ectopic kidneys, with an approximate incidence of 1 : 75000. We hereby describe a rare case of an incidental finding of crossed unfused ectopic kidneys, in a 45-year-old gentleman incidentally found to have a bladder lesion. The unique blood supply of his kidneys has also been described. The present case also highlights the different subtypes of renal ectopia, the different embryological hypotheses behind their presentation, and the various systematic anomalies, associated with them. Variations in vasculature of ectopic kidneys have been only described in case reports and are crucial to recognize in case any further intervention is needed.

Virtual Team Leadership: A Case Study in Christian Higher Education

ERIC Educational Resources Information Center

Hirschy, Mary Jo

2011-01-01

This study focused on virtual team leadership in Christian higher education by exploring the viability and acceptability of leadership practices defined by Malhotra, Majchrzak, and Rosen (2007). They identified six leadership practices effective leaders use to overcome the unique challenges associated with virtual teams, including: (a)…

Family-Based Cognitive-Behavioral Treatment of Chronic Pediatric Headache and Anxiety Disorders: A Case Study

ERIC Educational Resources Information Center

Drake, Kelly L.; Ginsburg, Golda S.

2012-01-01

Background: Chronic pediatric headache disorders are pervasive, debilitating, and associated with high rates of comorbid anxiety disorders. The combination of headaches and anxiety presents unique challenges for clinicians. Cognitive behavioral therapy (CBT) is a promising treatment for pediatric headache, however, available treatments fail to…

Giant cell tumor of distal phalanx in an adolescent with Goltz-Gorlin syndrome.

PubMed

Borgers, A; Peters, S; Sciot, R; De Smet, L

2014-01-01

We report on a unique case of a young female patient with the Goltz-Gorlin syndrome who developed a giant cell tumor of bone in the distal phalanx of the thumb. This case is noteworthy because of the combination of some unusual features. Firstly, it is only the fifth case report on the association of giant cell tumor of bone and the Goltz-Gorlin syndrome. Also the localization of the lesion in the bones of the hand and the presentation at adolescent age is rarely seen.

Exercise-induced bilateral rectus sheath hematomas presenting as acute abdominal pain with scrotal swelling and pressure: case report and review.

PubMed

Auten, Jonathan D; Schofer, Joel M; Banks, Steven L; Rooney, Timothy B

2010-04-01

Rectus sheath hematoma (RSH) is an uncommon but significant cause of acute abdominal pain in patients presenting to the Emergency Department. RSHs are often misdiagnosed as other more common causes of abdominal pain. This case describes a 23-year-old male presenting with acute abdominal pain, scrotal swelling, and associated scrotal pressure. The case highlights the uniqueness of this particular presentation and the clinical features, risk factors, diagnosis, and treatment of RSH. Published by Elsevier Inc.

PHACES syndrome associated with carcinoid endobronchial tumor.

PubMed

Mama, Nadia; H'mida, Dorra; Lahmar, Imen; Yacoubi, Mohamed Tahar; Tlili-Graiess, Kalthoum

2014-05-01

PHACES syndrome consists of the constellation of manifestations including posterior fossa anomalies of the brain (most commonly Dandy-Walker malformations), hemangiomas of the face and scalp, arterial abnormalities, cardiac defects, eye anomalies and sternal defects. We present a case with a possible PHACES syndrome including sternal cleft and supraumbilical raphé, precordial skin tag, persistent left superior vena cava and subtle narrowing of the aorta with an endobronchial carcinoid tumor. All these anomalies were discovered on chest multi-detector CT. This is a unique case of PHACES syndrome associated with carcinoid tumor. Review of the literature revealed 3 cases of PHACES syndrome with glial tumor. The authors tried to find the relationship between PHACES syndrome and carcinoid tumors or gliomas, which all derive from the neural crest cells.

Odonto calcifying cyst.

PubMed

Aswath, Nalini; Mastan, Kader; Manikandan, Tirupathi; Samuel, Gigi

2013-01-01

The calcifying odontogenic cyst (COC) is reported to be associated with odontoma in 24% of cases. Separation of the cases of calcifying odontogenic cyst associated with odontoma (COCaO) may lead to a better understanding of the pathogenesis of this lesion. The literature revealed 52 cases of COCaO. The male to female ratio was 1:1.9, with a mean age of 16 years. Most common location was the maxilla (61.5%). The radiographic appearance of most cases (80.5%) was a well-defined, mixed radiolucent-radiopaque lesion. Histologically, the lesions consisted of a single large cyst with tooth-like structures as an integral part, giving the impression of a single lesion. In addition to the unique histologic features, differences in gender and distribution were found between the cases of COCaO and those of simple COC. COCaO may be regarded as a separate entity and classified as a benign, mixed odontogenic tumor. The term odontocalcifying odontogenic cyst is suggested.

Relapsing polychondritis associated with psoriasis vulgaris successfully treated with adalimumab: A case report with published work review.

PubMed

Matsuo, Haruka; Asahina, Akihiko; Fukuda, Takeshi; Umezawa, Yoshinori; Nakagawa, Hidemi

2017-07-01

Relapsing polychondritis (RP) is a rare autoimmune-mediated disease characterized by inflammation involving cartilaginous tissues. We report here a case of RP in a 38-year-old Japanese man with 13-year duration of psoriasis vulgaris treated with topical steroids and vitamin D 3 . The patient presented with tender swelling and erythema of both auricles, and the antibody to type II collagen was detected. The biopsy specimen revealed a dense mixed cell infiltration over the auricular cartilage. We reviewed eight cases with the association of RP and psoriasis, and in all cases the clinical course of psoriasis did not correlate with that of RP. The severity of RP was mild in the majority of cases, and our case was unique in that the patient had no joint symptoms. Adalimumab treatment was effective for both RP and psoriasis. Fat-suppressed contrast-enhanced magnetic resonance imaging was beneficial, not only to demonstrate subclinical inflammation in the nasal septum, but also to subjectively assess the improvement of RP. © 2017 Japanese Dermatological Association.

Voluntary switching between identities in dissociative identity disorder: A functional MRI case study.

PubMed

Savoy, R L; Frederick, B B; Keuroghlian, A S; Wolk, P C

2012-01-01

Patients who suffer from dissociative identity disorder present unique scientific and clinical challenges for psychology and psychiatry. We have been fortunate in working with a patient who-while undergoing functional MRI-can switch rapidly and voluntarily between her main personality (a middle-aged, high-functioning woman) and an alternate personality (a 4-6-year-old girl). A unique task was designed to isolate the processes occurring during the switches between these personalities. Data are from two imaging sessions, conducted months apart, each showing the same activated areas during switches between these personalities. The activated areas include the following: the primary sensory and motor cortex, likely associated with characteristic facial movements made during switching; the nucleus accumbens bilaterally, possibly associated with aspects of reward connected with switching; and prefrontal sites, presumably associated with the executive control involved in the switching of personalities.

Case Report: A Case of Severe Cerebral Malaria Managed with Therapeutic Hypothermia and Other Modalities for Brain Edema.

PubMed

Gad, AbdAllah; Ali, Sajjad; Zahoor, Talal; Azarov, Nick

2018-04-01

Malarial infections are uncommon in the United States and almost all reported cases stem from recent travelers coming from endemic countries. Cerebral malaria (CM) is a severe form of the disease usually affecting children and individuals with limited immunity. Despite proper management, mortality from CM can reach up to 25%, especially when it is associated with brain edema. Inefficient management of the edema may result in brain herniation and death. Uniform guidelines for management of CM-associated brain edema are lacking. In this report, we present a case of CM with associated severe brain edema that was successfully managed using a unique combination of therapeutic hypothermia, hypertonic saline, mannitol, and hyperventilation along with the antimalarial drugs quinidine and doxycycline. Our use of hypothermia was based on its proven benefit for improving neurological outcomes in post-cardiac arrest patients and previous in vitro research, suggesting its potential inhibitory role on malaria growth.

77 FR 5062 - Privacy Act of 1974; Consolidation of National Labor Relations Board Systems of Records

Federal Register 2010, 2011, 2012, 2013, 2014

2012-02-01

... information and associated electronic case files, permitting the accurate and timely collection, retrieval, and retention of information maintained by offices of the Agency, regarding those offices' handling of... systems remain accessible, but no additional, unique information is being added to them. At this time...

A Comparison of Password Techniques for Multilevel Authentication Mechanisms

DTIC Science & Technology

1990-06-01

an individual user’s perceptions, personal interests and personal history . This information is unique to the individual and is neither commonly...a user may associative passwords profile around the Beatles . In this case, cues may include "abbey", "john", "yellow" and "george" and have responses

Compensating Controls and Agency Conflicts in the Absence of Owners: The Case of Nonprofit Charter Schools

ERIC Educational Resources Information Center

Bradley, Jean Ryberg

2017-01-01

This dissertation consists of three essays using publicly reported internal control deficiencies to examine agency conflicts in the unique organizational setting provided by nonprofit charter schools. In my first essay, I find evidence that increased agency conflicts in nonprofit charter schools are "not" associated with increased…

A unique case of right-sided Poland syndrome with true dextrocardia and total situs inversus.

PubMed

Atasoy, Halil I; Yavuz, Taner; Altunrende, Sevil; Guven, Melih; Kılıcgun, Ali; Polat, Omer; Yesiller, Erkan; Duzenli, Selma

2013-02-01

Poland syndrome has been reported to be associated with true dextrocardia, but not with true situs inversus. In this report, we describe the first patient with total situs inversus in medical literature and try to highlight the syndrome's probable etiology and pathogenetic mechanisms in utero.

4th Stage Transvaginal omental herniation during VBAC complicated by shoulder dystocia: a unique presentation of uterine rupture

PubMed Central

2013-01-01

Background Uterine rupture is a common complication in women attempting their first virginal birth after caesarean section (VBAC) but the risk diminishes with subsequent VBACs. It occurs in rates of 0.5-9% and is influenced by various factors. Case presentation A unique case of uterine rupture in a Kenyan woman of African descent during a repeat VBAC complicated by shoulder dystocia was discovered during the 4th stage of labour when omentum was noted protruding through the vagina. She had delivered 4 years earlier by caesarean section. Conclusion It is not common to experience uterine rupture among women attempting repeat VBAC. When it occurs, it may not always follow the known pattern intra-partum and is often associated with poor foetal outcome. PMID:23521920

Mandibular second molar exhibiting a unique "Y-" and "J-" "shaped" root canal anatomy diagnosed using cone-beam computed tomographic scanning: A case report.

PubMed

Parashar, Saumya-Rajesh; Kowsky, R Dinesh; Natanasabapathy, Velmurugan

2017-01-01

This article aims to report a unique case with aberrant root canal anatomy exhibiting "Y-" and "J"-shaped canal pattern in a mandibular second molar. Anatomic complexities may pose challenges for endodontic treatment. Before performing endodontic treatment, the clinician should be aware of the internal anatomy of the tooth being treated and should recognize anatomic aberrations if present. Presence of unusual anatomy may call for modifications in treatment planning. This report describes in detail about a mandibular second molar tooth associated with two paramolar tubercles having a peculiar "Y-" and "J-"shaped canal anatomy detected with the aid of cone beam computed tomography, which has never been reported in the dental literature. The proposed treatment protocol for the endodontic management of the same has also been discussed.

Crossed Unfused Ectopic Pelvic Kidneys: A Case Illustration

PubMed Central

AbuSamra, Murad M.; El-Merhi, Fadi

2018-01-01

Crossed unfused ectopia constitutes a very rare variant of ectopic kidneys, with an approximate incidence of 1 : 75000. We hereby describe a rare case of an incidental finding of crossed unfused ectopic kidneys, in a 45-year-old gentleman incidentally found to have a bladder lesion. The unique blood supply of his kidneys has also been described. The present case also highlights the different subtypes of renal ectopia, the different embryological hypotheses behind their presentation, and the various systematic anomalies, associated with them. Variations in vasculature of ectopic kidneys have been only described in case reports and are crucial to recognize in case any further intervention is needed. PMID:29854552

Connecting health-related quality of life and mental health in dementia caregivers from Colombia, South America.

PubMed

Perrin, Paul B; Morgan, Matthew; Aretouli, Eleni; Sutter, Megan; Snipes, Daniel J; Hoyos, Guillermo Ramirez; Buraye, Jacqueline Arabia; Arango-Lasprilla, Juan Carlos

2014-01-01

Research in Caucasian populations has begun to examine the broad associations between physical and mental health in dementia caregivers. However, the examination of this relationship in Latin America is largely absent from the literature despite the fact that the region will see a major increase in dementia cases over the next 20 years. The current study examined the associations between health-related quality of life (HRQOL) and mental health in 90 dementia caregivers from Colombia, South America. A canonical correlation found that higher caregiver HRQOL was related to better mental health, as expected. Caregivers with high vitality and low role limitations due to physical problems tended to have low depression and high satisfaction with life. Follow-up multiple regressions found that caregiver role limitations due to physical problems was uniquely associated with satisfaction with life, whereas vitality, role limitations due to physical problems, and pain were uniquely associated with burden (although the pain effect was likely error due to a suppressor effect). Additionally, vitality and social functioning were uniquely negatively related to depression. Because of the extremely high overlap between these two sets of variables, dementia interventions are needed in Latin America that target both caregiver mental and physical health, as both likely operate in unison and influence each other.

CLFV and the origin of neutrino masses

NASA Astrophysics Data System (ADS)

Hambye, Thomas

2014-03-01

The neutrino oscillations constitute the unique absolute guarantee we have at the moment that charged lepton flavor violation (CLFV) processes do exist. Even if the associated rates are in general expected very suppressed, it turns out that this is not always necessarily the case. In the framework of the three basic seesaw models, we review the possibilities of having observable rates. Each seesaw case presenting a quite different CLFV pattern, we show how these observable rates could allow us to distinguish these various possible neutrino mass origins.

Linezolid Is Associated with Serotonin Syndrome in a Patient Receiving Amitriptyline, and Fentanyl: A Case Report and Review of the Literature

PubMed Central

Savvari, Paraskevi; Kontogiannis, Sofoklis

2013-01-01

We report a unique case of an adverse interaction between the oxazolidinone antibiotic linezolid, the tricyclic antidepressant amitriptyline and the opioid analgesic fentanyl in a 68-year-old woman with advanced ischemic peripheral arterial disease and sepsis, under empirical antibiotic treatment. We also summarize the current relevant literature as identified via PubMed, EMBASE, and PsycINFO as well as reference sections of selected articles. PMID:23533900

Adverse effect of high migration stress on mental health during pregnancy: a case report.

PubMed

Lecompte, Vanessa; Richard-Fortier, Zoé; Rousseau, Cécile

2017-02-01

Despite empirical evidence on the numerous consequences associated with high migration stress and mental health problems during pregnancy, a psychosocial stress assessment is rarely done, leaving it largely unaddressed. This case illustration sheds light on the common multiple risk factors related to migration stress that have to be taken into consideration when addressing perinatal mental health, and highlights the importance of obstetric appointments as a unique opportunity to assess psychosocial stress and mobilize interdisciplinary interventions.

Williams syndrome and mature B-Leukemia: A random association?

PubMed

Decimi, Valentina; Fazio, Grazia; Dell'Acqua, Fabiola; Maitz, Silvia; Galbiati, Marta; Rizzari, Carmelo; Biondi, Andrea; Cazzaniga, Giovanni; Selicorni, Angelo

2016-12-01

Williams syndrome (WBS) is a rare neurodevelopmental disorder with specific phenotypic characteristics and cardiac abnormalities, but is not considered as a cancer predisposing condition. However, in rare cases, malignancies have been described in patients with WBS, with hematologic cancer (mainly Burkitt Lymphoma and Acute Lymphoblastic Leukemia) as the most represented. We report here the case of a boy with WS and B-NHL. This is the unique case within the large cohort of patients (n = 117) followed in our institution for long time (mean clinical follow-up, 13 years). We herewith propose that the BCL7B gene, located in the chromosomal region commonly deleted in Williams syndrome, could potentially have a role in this particular association. Copyright © 2016 Elsevier Masson SAS. All rights reserved.

Isolated unilateral trismus as a presentation of Chiari malformation: case report.

PubMed

Feinberg, Michelle; Babington, Parker; Sood, Shawn; Keating, Robert

2016-05-01

The authors present a case of Chiari malformation manifesting as isolated trismus, describe the typical symptoms associated with Chiari malformation, and discuss the potential anatomical causes for this unique presentation. A 3-year-old boy presented with inability to open his jaw for 6 weeks with associated significant weight loss. The results of medical and radiological evaluation were negative except for Type I Chiari malformation with cerebellar tonsils 12 mm below the level of the foramen magnum. The patient underwent Chiari decompression surgery. Postoperatively, his ability to open his mouth was significantly improved, allowing resumption of a regular diet. Postoperative MRI revealed almost complete resolution of the syringobulbia. To the best of the authors' knowledge, this is the first reported case of isolated trismus from Chiari malformation with syringobulbia.

Internal hernia due to adjustable gastric band tubing: review of the literature and illustrative case video.

PubMed

Hamed, Osama H; Simpson, Lashondria; Lomenzo, Emanuele; Kligman, Mark D

2013-11-01

Laparoscopic adjustable gastric banding (LAGB) is a commonly performed bariatric procedure. Device-related morbidity is typically associated with the subcutaneous port or the band itself. Complications related to band tubing are unusual. Small bowel obstruction (SBO) after LAGB is a unique and serious complication; there is the potential of delayed diagnosis and the risk of closed-loop bowel obstruction. SBO secondary to internal hernia caused by band tubing is very rare, with only five cases reported in the literature. In this article, we describe our experience and provide an illustrative video of a case of SBO related to band tubing. We also provide a detailed review of the few previously published case reports. Based on the common features of our case and other published case reports, we hypothesize some risk factors that might lead to this unique morbidity of adjustable gastric band tubing and provide potential solutions to prevent this problem. Tubing-related SBO is a serious complication with the risk of closed-loop bowel obstruction. Urgent operative exploration is required to avoid bowel strangulation. To prevent recurrence we advise functionally shortening the tubing by tucking it to the right upper quadrant above the liver and also provide some omental coverage between the bowel and band tubing if possible.

Autoimmune Diabetes Associated With Pembrolizumab: A Review of Published Case Reports.

PubMed

Cheema, Anmol; Makadia, Bhaktidevi; Karwadia, Tejas; Bajwa, Ravneet; Hossain, Mohammad

2018-02-01

The utility of immunotherapy, such as pembrolizumab, is becoming essential in the treatment of certain cancers. Pembrolizumab works through binding of programmed cell death 1 receptor that blocks the binding of the programmed cell death ligand 1 and is commonly used in non-small cell lung cancer and melanoma. Pembrolizumab has been reported to be associated with multiple adverse reactions such as pneumonitis, colitis, hepatitis, hypophysitis, hyperthyroidism, hypothyroidism, nephritis, and type 1 diabetes; however, pembrolizumab causing type 1 diabetes was only reported in 0.1% of the patients in clinical trials. A review of the literature generated 1,001 unique citations of which six reported cases of autoimmune diabetes associated with pembrolizumab were selected and compared. Review of the cases showed no sexual predilection and the average age of onset was 58 years old. The majority of the patients were treated for melanoma (5/6 cases), initially presented with diabetic ketoacidosis (4/6 cases), and had at one point taken ipilimumab (4/6 cases). There was no association found between the number of treatments received and the development of diabetes. With the increasing use of pembrolizumab in cancer treatment regular blood glucose monitoring during treatment, especially in patients who had also taken ipilimumab, may prevent the onset of this life-threatening complication.

Complex Frontal Pneumosinus Dilatans Associated with Meningioma: A Report of Two Cases and Associated Literature Review.

PubMed

Timms, Sara; Lakhani, Raj; Connor, Steve; Hopkins, Claire

2017-07-01

Introduction  Pneumosinus dilatans (PSD) is a rare phenomenon involving the expansion of the paranasal sinuses, without bony destruction or a mass. Previously documented cases have demonstrated simple expansion of a solitary air cell. We present two unique cases of PSD in the presence of meningioma, in which complex new cells developed within the frontal sinus. One of the two patients developed associated sinus disease. Case 1  A 28-year-old man presented with facial pain. A computed tomography scan showed an abnormally enlarged, septated right frontal sinus, not present on childhood scans. He underwent a modified endoscopic Lothrop approach to divide the septations, and his symptoms resolved. Case 2  A 72-year-old woman presented with a 3-month history of headaches. Scans revealed a left frontal meningioma and multiple enlarged, dilated left frontal air cells. She had no clinical sinusitis and therefore was managed conservatively. Conclusions  PSD has been widely documented in association with fibrous dysplasia and meningioma. The most prevalent theory of the mechanism of PSD is of obstruction of the sinus ostium causing sinus expansion through a "ball-valve" effect. Our cases, which demonstrate septated PSD, suggest a more complex process involving local mediators and highlight the need to consider underlying meningioma in pneumosinus dilatans.

Autoimmune Diabetes Associated With Pembrolizumab: A Review of Published Case Reports

PubMed Central

Cheema, Anmol; Makadia, Bhaktidevi; Karwadia, Tejas; Bajwa, Ravneet; Hossain, Mohammad

2018-01-01

The utility of immunotherapy, such as pembrolizumab, is becoming essential in the treatment of certain cancers. Pembrolizumab works through binding of programmed cell death 1 receptor that blocks the binding of the programmed cell death ligand 1 and is commonly used in non-small cell lung cancer and melanoma. Pembrolizumab has been reported to be associated with multiple adverse reactions such as pneumonitis, colitis, hepatitis, hypophysitis, hyperthyroidism, hypothyroidism, nephritis, and type 1 diabetes; however, pembrolizumab causing type 1 diabetes was only reported in 0.1% of the patients in clinical trials. A review of the literature generated 1,001 unique citations of which six reported cases of autoimmune diabetes associated with pembrolizumab were selected and compared. Review of the cases showed no sexual predilection and the average age of onset was 58 years old. The majority of the patients were treated for melanoma (5/6 cases), initially presented with diabetic ketoacidosis (4/6 cases), and had at one point taken ipilimumab (4/6 cases). There was no association found between the number of treatments received and the development of diabetes. With the increasing use of pembrolizumab in cancer treatment regular blood glucose monitoring during treatment, especially in patients who had also taken ipilimumab, may prevent the onset of this life-threatening complication. PMID:29581809

Wii have a problem: a review of self-reported Wii related injuries.

PubMed

Sparks, Dorothy; Chase, Daniel; Coughlin, Lisa

2009-01-01

The increasing popularity of the Wii video game console has been associated with a number of gameplay related traumas. We sought to investigate if there were any identifiable injury patterns associated with Wii use. Utilising a database of self-reported Wii related injuries, the data was categorised by type of injury and game title being played at the time of injury. We found that of 39 reported Wii related injuries over a two-year span, 46% occurred while playing the Wii Sports Tennis software. Further, we identified 14 distinct injury patterns sustained during gameplay. Of these injuries, hand lacerations were the most common, accounting for 44% of the total number of reported cases. Injury associated with video game play is not unique to the Wii, nor is it a new phenomenon. However, the Wii console appears to have a higher rate of associated injuries than traditional game consoles because of its unique user interface. We review the literature and discuss some of the medical complications associated with the Wii and other video game consoles.

Magnet balls stuck to the frenulum of the lip.

PubMed

Kondamudi, Noah P; Ayush Gupta; Kaur, Ranbir

2014-03-01

Accidents associated with magnets as foreign bodies pose a serious threat to the health of children and adolescents. Prompt management and removal of the magnet is important to avoid life-threatening complications. Our aim was to highlight an unusual health hazard associated with magnets in children. We report on a unique case of an adolescent girl who presented with two magnet balls stuck to the frenulum of her upper lip, resulting in intense pain and discomfort. The magnets were removed painlessly by induced magnetism through metallic mosquito forceps. As children experiment with toys and products containing detachable magnetic balls, more cases will likely present to emergency departments. Increased awareness and preventive measures should be undertaken to reduce the morbidity and mortality associated with magnets. Copyright © 2014 Elsevier Inc. All rights reserved.

A Report of Two Patients with Darier Disease and Hidradenitis Suppurativa.

PubMed

Ornelas, Jennifer; Sivamani, Raja; Awasthi, Smita

2016-07-01

We report two unique cases of patients with Darier disease and hidradenitis suppurativa. Although it is unknown whether there is a connection between the two diseases, it is possible that an interaction between sarcoendoplasmic reticulum calcium transport ATPase and Notch homolog 1, translocation-associated (Drosophila) caused both diseases in these individuals. © 2016 Wiley Periodicals, Inc.

Nonverbal Executive Function Is Mediated by Language: A Study of Deaf and Hearing Children

ERIC Educational Resources Information Center

Botting, Nicola; Jones, Anna; Marshall, Chloe; Denmark, Tanya; Atkinson, Joanna; Morgan, Gary

2017-01-01

Studies have suggested that language and executive function (EF) are strongly associated. Indeed, the two are difficult to separate, and it is particularly difficult to determine whether one skill is more dependent on the other. Deafness provides a unique opportunity to disentangle these skills because in this case, language difficulties have a…

Building Bridges of Understanding through Continuing Education and Professional Development of Arabs and Israelis

ERIC Educational Resources Information Center

Noyek, Arnold M.; Skinner, Harvey; Davis, Dave; Clark, Ian; Sriharan, Abi; Chalin, Catherine G.

2005-01-01

In this article, we present an educational approach uniquely linked to humanitarian and peace-building goals in conflicted regions of the world. We examine the Canada International Scientific Exchange Program and its lead program, the Middle East Association for Managing Hearing Loss, as a case study. Under a Canadian umbrella, continuing medical…

78 FR 76067 - Defense Federal Acquisition Regulation Supplement: Item Unique Identifier Update (DFARS Case 2011...

Federal Register 2010, 2011, 2012, 2013, 2014

2013-12-16

... with the Air Transport Association Common Support Data Dictionary; and (ii) The encoded data elements... 211.274-2(a)(2) and (3) are revised to consolidate requirements. The definition of ``data matrix... Registry'' is added at 252.211-7003(c)(2). The phrase ``ECC200 data matrix specification'' is added at 252...

Association of Lyme Disease and Schizoaffective Disorder, Bipolar Type: Is it Inflammation Mediated?

PubMed

Mattingley, David William; Koola, Maju Mathew

2015-01-01

Lyme disease has been reported to be associated with various psychiatric presentations. Borreliaburgdorferi (Bb) can present with symptoms similar to schizophrenia and bipolar disorder. It has been suggested that inflammation incurred during the Bb infection leads to neurodegenerative changes that result in schizophrenia-like presentations. We report a case of a 41-year-old male with a past history of Bb infection who presents with psychosis. Later in the course of his hospitalization, he developed mood symptoms and was diagnosed with schizoaffective disorder, bipolar type. This case highlights the diagnosis and treatment of a patient with the unique presentation of schizoaffective disorder, bipolar type in the setting of previous Bb infection.

Melanotic MiT family translocation neoplasms: Expanding the clinical and molecular spectrum of this unique entity of tumors.

PubMed

Saleeb, Rola M; Srigley, John R; Sweet, Joan; Doucet, Cedric; Royal, Virginie; Chen, Ying-Bei; Brimo, Fadi; Evans, Andrew

2017-11-01

MiT family translocation tumors are a group of neoplasms characterized by translocations involving MiT family transcription factors. The translocation renal cell carcinomas, TFE3 (Xp11.2) and TFEB (t6;11) are known members of this family. Melanotic Xp11 translocation renal cancer is a more recently described entity. To date only 14 cases have been described. It is characterized by a distinct set of features including a nested epithelioid morphology, melanin pigmentation, labeling for markers of melanocytic differentiation, lack of labeling for markers of renal tubular differentiation, predominance in a younger age population and association with aggressive clinical behavior. There are noted similarities between that entity and TFE3 associated PEComas. There are no cases reported of equivalent melanotic TFEB translocation renal cancer. We report 2 rare cases of melanotic translocation renal neoplasms. The first is a melanotic TFE3 translocation renal cancer with an indolent clinical course, occurring in a patient more than 3-decades older than the usual average age in which such tumors have been described. The other case is, to our knowledge, the first reported melanotic TFEB translocation cancer of the kidney. Both cases exhibit the same H&E morphology as previously reported in melanotic translocation renal cancers and label accordingly with HMB45 and Melan-A. While the TFE3 melanotic tumor lacked any evidence of renal tubular differentiation, the TFEB melanotic cancer exhibited some staining for renal tubular markers. Based on the unique features noted above, these two cases expand the clinical and molecular spectrum of the melanotic translocation renal cancers. Copyright © 2017 Elsevier GmbH. All rights reserved.

Healthcare- and Community-Associated Methicillin-Resistant Staphylococcus aureus (MRSA) and Fatal Pneumonia with Pediatric Deaths in Krasnoyarsk, Siberian Russia: Unique MRSA's Multiple Virulence Factors, Genome, and Stepwise Evolution

PubMed Central

Khokhlova, Olga E.; Hung, Wei-Chun; Wan, Tsai-Wen; Iwao, Yasuhisa; Takano, Tomomi; Higuchi, Wataru; Yachenko, Svetlana V.; Teplyakova, Olga V.; Kamshilova, Vera V.; Kotlovsky, Yuri V.; Nishiyama, Akihito; Reva, Ivan V.; Sidorenko, Sergey V.; Peryanova, Olga V.; Reva, Galina V.; Teng, Lee-Jene; Salmina, Alla B.; Yamamoto, Tatsuo

2015-01-01

Methicillin-resistant Staphylococcus aureus (MRSA) is a common multidrug-resistant (MDR) pathogen. We herein discussed MRSA and its infections in Krasnoyarsk, Siberian Russia between 2007 and 2011. The incidence of MRSA in 3,662 subjects was 22.0% and 2.9% for healthcare- and community-associated MRSA (HA- and CA-MRSA), respectively. The 15-day mortality rates for MRSA hospital- and community-acquired pneumonia (HAP and CAP) were 6.5% and 50%, respectively. MRSA CAP cases included pediatric deaths; of the MRSA pneumonia episodes available, ≥27.3% were associated with bacteremia. Most cases of HA-MRSA examined exhibited ST239/spa3(t037)/SCCmecIII.1.1.2 (designated as ST239Kras), while all CA-MRSA cases examined were ST8/spa1(t008)/SCCmecIV.3.1.1(IVc) (designated as ST8Kras). ST239Kras and ST8Kras strongly expressed cytolytic peptide (phenol-soluble modulin α, PSMα; and δ-hemolysin, Hld) genes, similar to CA-MRSA. ST239Kras pneumonia may have been attributed to a unique set of multiple virulence factors (MVFs): toxic shock syndrome toxin-1 (TSST-1), elevated PSMα/Hld expression, α-hemolysin, the staphylococcal enterotoxin SEK/SEQ, the immune evasion factor SCIN/SAK, and collagen adhesin. Regarding ST8Kras, SEA was included in MVFs, some of which were common to ST239Kras. The ST239Kras (strain OC3) genome contained: a completely unique phage, φSa7-like (W), with no att repetition; S. aureus pathogenicity island SaPI2R, the first TSST-1 gene-positive (tst +) SaPI in the ST239 lineage; and a super copy of IS256 (≥22 copies/genome). ST239Kras carried the Brazilian SCCmecIII.1.1.2 and United Kingdom-type tst. ST239Kras and ST8Kras were MDR, with the same levofloxacin resistance mutations; small, but transmissible chloramphenicol resistance plasmids spread widely enough to not be ignored. These results suggest that novel MDR and MVF+ HA- and CA-MRSA (ST239Kras and ST8Kras) emerged in Siberian Russia (Krasnoyarsk) associated with fatal pneumonia, and also with ST239Kras, a new (Siberian Russian) clade of the ST239 lineage, which was created through stepwise evolution during its potential transmission route of Brazil-Europe-Russia/Krasnoyarsk, thereby selective advantages from unique MVFs and the MDR. PMID:26047024

Mesenteric-portal axis thrombosis and deep venous thrombosis in a patient with inferior vena cava agenesis.

PubMed

Lluis Pons, Laia; Chahri Vizcarro, Nadia; Llaverias Borrell, Silvia; Miquel Abbad, Carlos

2017-06-01

Splenoportal axis thrombosis not associated with cirrhosis or neoplasms has a prevalence lower than 5 per 10,000 people. An etiologic factor responsible for portal thrombosis is finally identified in most cases, usually systemic thrombogenic factors or predisposing local factors. However, despite a detailed study of all etiologic factors, up to 30% of cases are eventually considered as idiopathic in origin. We report the case of a 41-year-old patient who presented with abdominal pain and lower extremity edema. The patient was diagnosed with portal and mesenteric-portal confluence thrombosis, bilateral deep venous thrombosis and right lumbar vein thrombosis based on an abdominal CT scan. This was associated with a likely congenital inferior vena cava agenesis. This malformation is present in approximately 5% of patients with deep vein thrombosis even though it represents a rare cause of portal thrombosis. The fact that several thromboses developed simultaneously makes this a unique and isolated case in the current literature as no similar cases have been reported thus far.

A case report of acute myelogenous leukemia with Turner Syndrome.

PubMed

Siddiqui, Nadir; Ali Baig, Mirza Faris; Khan, Bilal Ahmed

2017-09-01

Turner Syndrome was diagnosed in a 45 years old female, known case of Acute Myeloid Leukaemia (AML) with maturation, on Bone Marrow biopsy. She presented with blurred vision, vertigo, exertional dyspnoea and insomnia. She did not show the typical features of Turner syndrome, but her cytogenetis confirmed the diagnosis. Bone marrow biopsy showed diffuse infiltration of blast cells with cellularity around 80-85% and haematopoietic suppression. Karyotype analysis showed: 45 X, -X, t (8; 21) (q22; q22) [According to The International System for Human Cytogenetic Nomenclature (ISCN)]. Turner syndrome is caused by partial or complete absence of second X chromosome in a female. It is known to have Cardiovascular and Reproductive complications but it is rare to find haematologic malignancies. There are few similar reported cases of AML associated with Turner syndrome, therefore this is a unique case presented to Jinnah Postgraduate Medical Center, Karachi, Pakistan and further research should be done to identify more similar cases to explore the prognostic significance of this association.

Characterisation of interface astroglial scarring in the human brain after blast exposure: a post-mortem case series.

PubMed

Shively, Sharon Baughman; Horkayne-Szakaly, Iren; Jones, Robert V; Kelly, James P; Armstrong, Regina C; Perl, Daniel P

2016-08-01

No evidence-based guidelines are available for the definitive diagnosis or directed treatment of most blast-associated traumatic brain injuries, partly because the underlying pathology is unknown. Moreover, few neuropathological studies have addressed whether blast exposure produces unique lesions in the human brain, and if those lesions are comparable with impact-induced traumatic brain injury. We aimed to test the hypothesis that blast exposure produces unique patterns of damage, differing from that associated with impact-induced, non-blast traumatic brain injuries. In this post-mortem case series, we investigated several features of traumatic brain injuries, using clinical histopathology techniques and markers, in brain specimens from male military service members with chronic blast exposures and from those who had died shortly after severe blast exposures. We then compared these results with those from brain specimens from male civilian (ie, non-military) cases with no history of blast exposure, including cases with and without chronic impact traumatic brain injuries and cases with chronic exposure to opiates, and analysed the limited associated clinical histories of all cases. Brain specimens had been archived in tissue banks in the USA. We analysed brain specimens from five cases with chronic blast exposure, three cases with acute blast exposure, five cases with chronic impact traumatic brain injury, five cases with exposure to opiates, and three control cases with no known neurological disorders. All five cases with chronic blast exposure showed prominent astroglial scarring that involved the subpial glial plate, penetrating cortical blood vessels, grey-white matter junctions, and structures lining the ventricles; all cases of acute blast exposure showed early astroglial scarring in the same brain regions. All cases of chronic blast exposure had an antemortem diagnosis of post traumatic stress disorder. The civilian cases, with or without history of impact traumatic brain injury or a history of opiate use, did not have any astroglial scarring in the brain regions analysed. The blast exposure cases showed a distinct and previously undescribed pattern of interface astroglial scarring at boundaries between brain parenchyma and fluids, and at junctions between grey and white matter. This distinctive pattern of scarring may indicate specific areas of damage from blast exposure consistent with the general principles of blast biophysics, and further, could account for aspects of the neuropsychiatric clinical sequelae reported. The generalisability of these findings needs to be explored in future studies, as the number of cases, clinical data, and tissue availability were limited. Defense Health Program of the United States Department of Defense. Copyright © 2016 Elsevier Ltd. All rights reserved.

The slow X-ray pulsar SXP 1062 and associated supernova remnant in the Wing of the Small Magellanic Cloud

NASA Astrophysics Data System (ADS)

Oskinova, L. M.; Guerrero, M. A.; Hénault-Brunet, V.; Sun, W.; Chu, Y.-H.; Evans, C.; Gallagher, J. S.; Gruendl, R. A.; Reyes-Iturbide, J.

2013-03-01

SXP 1062 is an exceptional case of a young neutron star in a wind-fed high-mass X-ray binary associated with a supernova remnant. A unique combination of measured spin period, its derivative, luminosity and young age makes this source a key probe for the physics of accretion and neutron star evolution. Theoretical models proposed to explain the properties of SXP 1062 shall be tested with new data.

A unique complication of urethral catheterization: pubic hair associated with struvite bladder calculi.

PubMed

Perz, Sarah; Ellimoottil, Chandy; Rao, Manoj; Bresler, Larissa

2013-01-01

Bladder stones account for 5% of all urinary stone disease and can develop on a foreign body, such as a misplaced suture, eroded surgical mesh, or ureteral stent. In this case study, the authors present a patient with bladder stones associated with pubic hairs introduced during a monthly indwelling Foley catheter change. Clinicians have an important role in instructing patients on the use of proper technique and hygiene practices during urethral catheterization to minimize the potential for urinary complications.

Identification of shared and unique susceptibility pathways among cancers of the lung, breast, and prostate from genome-wide association studies and tissue-specific protein interactions

PubMed Central

Qian, David C.; Byun, Jinyoung; Han, Younghun; Greene, Casey S.; Field, John K.; Hung, Rayjean J.; Brhane, Yonathan; Mclaughlin, John R.; Fehringer, Gordon; Landi, Maria Teresa; Rosenberger, Albert; Bickeböller, Heike; Malhotra, Jyoti; Risch, Angela; Heinrich, Joachim; Hunter, David J.; Henderson, Brian E.; Haiman, Christopher A.; Schumacher, Fredrick R.; Eeles, Rosalind A.; Easton, Douglas F.; Seminara, Daniela; Amos, Christopher I.

2015-01-01

Results from genome-wide association studies (GWAS) have indicated that strong single-gene effects are the exception, not the rule, for most diseases. We assessed the joint effects of germline genetic variations through a pathway-based approach that considers the tissue-specific contexts of GWAS findings. From GWAS meta-analyses of lung cancer (12 160 cases/16 838 controls), breast cancer (15 748 cases/18 084 controls) and prostate cancer (14 160 cases/12 724 controls) in individuals of European ancestry, we determined the tissue-specific interaction networks of proteins expressed from genes that are likely to be affected by disease-associated variants. Reactome pathways exhibiting enrichment of proteins from each network were compared across the cancers. Our results show that pathways associated with all three cancers tend to be broad cellular processes required for growth and survival. Significant examples include the nerve growth factor (P = 7.86 × 10−33), epidermal growth factor (P = 1.18 × 10−31) and fibroblast growth factor (P = 2.47 × 10−31) signaling pathways. However, within these shared pathways, the genes that influence risk largely differ by cancer. Pathways found to be unique for a single cancer focus on more specific cellular functions, such as interleukin signaling in lung cancer (P = 1.69 × 10−15), apoptosis initiation by Bad in breast cancer (P = 3.14 × 10−9) and cellular responses to hypoxia in prostate cancer (P = 2.14 × 10−9). We present the largest comparative cross-cancer pathway analysis of GWAS to date. Our approach can also be applied to the study of inherited mechanisms underlying risk across multiple diseases in general. PMID:26483192

Myiasis on a Giant Squamous Cell Carcinoma of the Scalp: A Case Report and Review of Relevant Literature

PubMed Central

Biswas, Saptarshi; McNerney, Patrick

2016-01-01

Non-melanoma skin cancer is the most common malignancy amongst Caucasians worldwide with basal cell and squamous cell cancer being the most common. Giant skin cancers are a relatively rare type of skin cancer that are, by definition, greater than 5 cm. This subtype by itself is associated with a significantly increased risk of complications and mortality. Myiasis is defined as infestation of body tissues of humans by dipterous larvae. Myiasis is often associated with malignant skin conditions. We describe a rare case of cutaneous myiasis located on a giant squamous cell carcinoma of the scalp in an elderly female. Myiasis coupled with malignant skin conditions provides a unique surgical challenge. This is especially true if the malignancy is invasive, as in our case, often requiring a multidisciplinary multimodality treatment plan. PMID:28983361

Uniqueness of the Stationary Wave for the Extended Fisher-Kolmogorov Equation

NASA Astrophysics Data System (ADS)

Kwapisz, Jaroslaw

2000-07-01

The extended Fisher-Kolmogorov equation, ut=-βuxxxx+uxx+u-u3, β>0, models a binary system near the Lifshitz critical point and is known to exhibit a stationary heteroclinic solution joining the equilibria ±1. For the classical case, β=0, the heteroclinic is u(x)=tanh(x/2) and is unique up to the obvious symmetries. We prove the conjecture that the uniqueness persists all the way to β=1/8, where the onset of spatial chaos associated with the loss of monotonicity of the stationary wave is known to occur. Our methods are non-perturbative and employ a global cross-section to the Hamiltonian flow of the stationary fourth order equation on the energy level of ±1. We also prove uniform a priori bounds on all bounded stationary solutions, valid for any β>0.

Meta-analysis identifies five novel loci associated with endometriosis highlighting key genes involved in hormone metabolism

PubMed Central

Sapkota, Yadav; Steinthorsdottir, Valgerdur; Morris, Andrew P.; Fassbender, Amelie; Rahmioglu, Nilufer; De Vivo, Immaculata; Buring, Julie E.; Zhang, Futao; Edwards, Todd L.; Jones, Sarah; O, Dorien; Peterse, Daniëlle; Rexrode, Kathryn M.; Ridker, Paul M.; Schork, Andrew J.; MacGregor, Stuart; Martin, Nicholas G.; Becker, Christian M.; Adachi, Sosuke; Yoshihara, Kosuke; Enomoto, Takayuki; Takahashi, Atsushi; Kamatani, Yoichiro; Matsuda, Koichi; Kubo, Michiaki; Thorleifsson, Gudmar; Geirsson, Reynir T.; Thorsteinsdottir, Unnur; Wallace, Leanne M.; Werge, Thomas M.; Thompson, Wesley K.; Yang, Jian; Velez Edwards, Digna R.; Nyegaard, Mette; Low, Siew-Kee; Zondervan, Krina T.; Missmer, Stacey A.; D'Hooghe, Thomas; Montgomery, Grant W.; Chasman, Daniel I.; Stefansson, Kari; Tung, Joyce Y.; Nyholt, Dale R.

2017-01-01

Endometriosis is a heritable hormone-dependent gynecological disorder, associated with severe pelvic pain and reduced fertility; however, its molecular mechanisms remain largely unknown. Here we perform a meta-analysis of 11 genome-wide association case-control data sets, totalling 17,045 endometriosis cases and 191,596 controls. In addition to replicating previously reported loci, we identify five novel loci significantly associated with endometriosis risk (P<5 × 10−8), implicating genes involved in sex steroid hormone pathways (FN1, CCDC170, ESR1, SYNE1 and FSHB). Conditional analysis identified five secondary association signals, including two at the ESR1 locus, resulting in 19 independent single nucleotide polymorphisms (SNPs) robustly associated with endometriosis, which together explain up to 5.19% of variance in endometriosis. These results highlight novel variants in or near specific genes with important roles in sex steroid hormone signalling and function, and offer unique opportunities for more targeted functional research efforts. PMID:28537267

Brucella ceti Infection in a Common Minke Whale ( Balaenoptera acutorostrata ) with Associated Pathology.

PubMed

Davison, Nicholas J; Perrett, Lorraine L; Dawson, Claire; Dagleish, Mark P; Haskins, Gary; Muchowski, Jakub; Whatmore, Adrian M

2017-07-01

There are three major lineages of marine mammal strains of Brucella spp.: Brucella ceti ST23, found predominantly in porpoises; B. ceti ST26, in pelagic delphinids and ziphiids; and Brucella pinnipedialis ST24/25, predominantly in seals. The isolation of Brucella spp. in mysticetes has been described only in common minke whales ( Balaenoptera acutorostrata ) in Norway and Scotland. We report a third case of Brucella infection and isolation in a minke whale associated with a large abscess. In contrast to the two previous reports that involved isolates of B. pinnipedialis ST24 or the porpoise-associated B. ceti complex ST23, this case was associated with the dolphin-associated B. ceti ST26. Thus, minke whales can be infected naturally with members of all the distinct major lineages of Brucella associated with marine mammals. This report is unique in that the B. ceti ST26 did not originate from a pelagic delphinid or a beaked whale.

Leber congenital amaurosis associated with Chiari I malformation: Two cases and a review of the literature

PubMed Central

Petraglia, Anthony L.; Chengazi, Harris U.; Chung, Mina M.; Silberstein, Howard J.

2012-01-01

Objective: Leber congenital amaurosis (LCA) is a rare, clinically and genetically heterogeneous disorder characterized by severe loss of vision in the first year of life, affecting approximately 3000 people in the United States. Some LCA patients manifest developmental abnormalities of the central nervous system (CNS) and neuroradiological studies have revealed a variety of cerebral anomalies in association with LCA; however, Chiari I malformations (CMI) have never been described. Case Description: We report two sisters who were referred to the pediatric neurosurgery clinic for evaluation of CMI. The elder sister presented with convergence nystagmus from 3 months of age and magnetic resonance imaging (MRI) demonstrated evidence of significant CMI. Her younger sister began developing nystagmus at 4 months of age. Both had symptomatic progression and underwent suboccipital decompression. Both were subsequently diagnosed with LCA. Case specifics and imaging findings are presented. Conclusions: CMI have been found in association with several genetic syndromes, but not with LCA. These patients represent the first reported cases of CMI with LCA and suggest an additional potential CNS anomaly. The unique occurrence in siblings and the association with another inherited disorder are suggestive of a genetic basis for CMI. PMID:22347674

Maxillary First Molars with 2 Distobuccal Canals: A Case Series.

PubMed

Fogel, Howard M; Cunha, Rodrigo Sanches

2017-11-01

An appreciation of the anatomic complexity of the root canal system is essential at every step of endodontic treatment. Endodontic treatment of teeth with unusual root canal anatomy presents a unique challenge. Eight patients underwent nonsurgical root canal treatment of 3-rooted maxillary first molars in a specialty endodontic private practice. Four cases of Weine type II and 4 cases of Weine type III canal configurations in the distobuccal root of maxillary first molars were presented.This article highlighted an uncommon anatomic variation of 2 canals in the distobuccal root of the maxillary first molar. Copyright © 2017 American Association of Endodontists. Published by Elsevier Inc. All rights reserved.

Cystic fibrosis, common variable immunodeficiency and Aspergers syndrome: an immunological and behavioural challenge.

PubMed

Chotirmall, S H; Low, T B; Hassan, T; Branagan, P; Kernekamp, C; Flynn, M G; Gunaratnam, C; McElvaney, N G

2011-06-01

Cystic fibrosis (CF) is of particular importance in Ireland as the Irish population has both the highest incidence (2.98/10,000) and the highest carrier rate (1 in 19) in the world. Primary immunodeficiency has not been previously reported as co-existing with CF. We report a unique case of CF associated with a primary immunodeficiency syndrome--common variable immunodeficiency (CVID). Our patient has CF, CVID and the additional comorbidity of Aspergers syndrome. The challenges inherent in diagnosing and treating such a case are outlined herein and the successful management of this case is evidenced by the well-preserved lung function of our patient.

[Observations on 4 atypical cases of blastocystosis].

PubMed

Muntean, E; Boceat, T

1989-01-01

The paper reports on four atypical cases of blastocystosis with prevalence of digestive and cutaneous disorders and of the allergic and general phenomena. The diagnosis could be established only after revealing Blastocystis hominis in the fecal parasitologic examination. The disappearance, in all the four cases, of varied clinical, delayed signs after treatment with metronidazol and stamycine (in two or even four repeated treatment schedules at 10 days' interval) is the proof that Bl. hominis might be the agent (unique or associated with other parasites) of some polymorphous disorders. Our findings are a call to specialists and clinicians for investigating the parasite and using an adequate treatment.

Lumbar disc herniation presenting with contralateral symptoms: a case report

PubMed Central

Koh, Zhi Sheng Darren; Lin, Shuxun

2017-01-01

Lumbar disc herniation is common and may be symptomatic. The magnetic resonance imaging (MRI) scan is an appropriate tool to confirm the diagnosis and affected level of the spine. While a disc herniation is usually associated with ipsilateral symptoms, a few cases have been reported to present with contralateral symptoms. We report a unique case of left lumbar disc herniation at L5/S1 who presented with contralateral symptoms and was successfully treated with a right L5/S1 foraminal block. However, the patient developed concordant ipsilateral symptoms 6 weeks later and was treated with left L5/S1 microdiscectomy. PMID:28435926

Lumbar disc herniation presenting with contralateral symptoms: a case report.

PubMed

Koh, Zhi Sheng Darren; Lin, Shuxun; Hey, Hwee Weng Dennis

2017-03-01

Lumbar disc herniation is common and may be symptomatic. The magnetic resonance imaging (MRI) scan is an appropriate tool to confirm the diagnosis and affected level of the spine. While a disc herniation is usually associated with ipsilateral symptoms, a few cases have been reported to present with contralateral symptoms. We report a unique case of left lumbar disc herniation at L5/S1 who presented with contralateral symptoms and was successfully treated with a right L5/S1 foraminal block. However, the patient developed concordant ipsilateral symptoms 6 weeks later and was treated with left L5/S1 microdiscectomy.

Trisomy 22 with 'cat eye' anomaly.

PubMed Central

Cervenka, J; Hansen, C A; Franciosi, R A; Gorlin, R J

1977-01-01

The case of a 10-month-old girl with an extra G-like chromosome is presented. Quinacrine, trypsin-Giemsa, and reverse banding identified the extra chromosome as no. 22. The phenotype of the patient is unique in that unilateral iris coloboma was observed, unlike the 18 cases of full trisomy 22 already published. This represents the first reported case of full trisomy 22 with this coloboma, or 'cat eye' anomaly, which is usually associated with partial trisomy 22. It is suggested that the use of the term 'cat eye syndrome' be revised. The terms 'partial trisomy 22 syndrome' and 'trisomy 22 syndrome' should be used instead. Images PMID:336892

How an Opportunistic Infection Can Mess with Your Brain and Take Your Breath Away: A Rare Case of Simultaneous Lung and Brain Abscess due to Streptococcus anginosus.

PubMed

Al-Saffar, Farah; Torres-Miranda, Daisy; Ibrahim, Saif; Shujaat, Adil

2015-01-01

Streptococcus anginosus (S. anginosus) is considered a friendly bug and is a one of many different bacteria that constitute the normal flora of the oral cavity. Nevertheless, it has been infrequently associated with more invasive infections, like lung abscess. It is extremely rare to have multisystemic involvement with S. anginosus group. We present a unique case of pulmonary and brain abscess due to S. anginosus in an immunocompetent patient.

Pseudo-myocardial infarction in diabetic ketoacidosis with hyperkalemia.

PubMed

Bellazzini, Marc A; Meyer, Tom

2010-10-01

Hyperkalemia-induced electrocardiogram changes such as dysrhythmias and altered T wave morphology are well described in the medical literature. Pseudo-infarction hyperkalemia-induced changes are less well known, but present a unique danger for the clinician treating these critically ill patients. This article describes a case of pseudo anteroseptal myocardial infarction in a type 1 diabetic with hyperkalemia. The most common patterns of pseudo-infarct and their associated potassium concentrations are then summarized from a literature review of 24 cases. Copyright © 2010 Elsevier Inc. All rights reserved.

Core Knowledge and the Emergence of Symbols: The Case of Maps

ERIC Educational Resources Information Center

Huang, Yi; Spelke, Elizabeth S.

2015-01-01

Map reading is unique to humans but is present in people of diverse cultures, at ages as young as 4 years old. Here, we explore the nature and sources of this ability and ask both what geometric information young children use in maps and what nonsymbolic systems are associated with their map-reading performance. Four-year-old children were given…

A Qualitative Case Study of the Congruence between Fraternal Organizations' and Members' Values, Principles, and Standards

ERIC Educational Resources Information Center

Lizza, Joseph P.

2017-01-01

Fraternal organizations are unique in how their very existence is routed in their espoused values, principles, and standards. These ideals spotlight what their organization was founded upon, and how those who associate themselves with the organization should conduct themselves. There are few instances where an organization is forced to be as…

Prevalence and Correlates of Drug/Alcohol-Facilitated and Incapacitated Sexual Assault in a Nationally Representative Sample of Adolescent Girls

ERIC Educational Resources Information Center

McCauley, Jenna L.; Conoscenti, Lauren M.; Ruggiero, Kenneth J.; Resnick, Heidi S.; Saunders, Benjamin E.; Kilpatrick, Dean G.

2009-01-01

Incapacitated/drug-alcohol facilitated sexual assault (IS/DAFS) is rapidly gaining recognition as a distinct form of assault with unique public health implications. This study reports the prevalence, case characteristics, and associated health risks of IS/DAFS using a large, nationally representative sample of 1,763 adolescent girls. Results…

Noonan syndrome-like disorder with loose anagen hair: a second case with neuroblastoma.

PubMed

Garavelli, Livia; Cordeddu, Viviana; Errico, Stefania; Bertolini, Patrizia; Street, Maria Elisabeth; Rosato, Simonetta; Pollazzon, Marzia; Wischmeijer, Anita; Ivanovski, Ivan; Daniele, Paola; Bacchini, Ermanno; Lombardi, Alfonsa Anna; Izzi, Giancarlo; Biasucci, Giacomo; Del Rossi, Carmine; Corradi, Domenico; Cazzaniga, Giovanni; Dominici, Carlo; Rossi, Cesare; De Luca, Alessandro; Bernasconi, Sergio; Riccardi, Riccardo; Legius, Eric; Tartaglia, Marco

2015-08-01

Noonan-like syndrome with loose anagen hair (NSLH), also known as Mazzanti syndrome, is a RASopathy characterized by craniofacial features resembling Noonan syndrome, cardiac defects, cognitive deficits and behavioral issues, reduced growth generally associated with GH deficit, darkly pigmented skin, and an unique combination of ectodermal anomalies. Virtually all cases of NSLH are caused by an invariant and functionally unique mutation in SHOC2 (c.4A>G, p.Ser2Gly). Here, we report on a child with molecularly confirmed NSLH who developed a neuroblastoma, first suspected at the age 3 months by abdominal ultrasound examination. Based on this finding, scanning of the SHOC2 coding sequence encompassing the c.4A>G change was performed on selected pediatric cohorts of malignancies documented to occur in RASopathies (i.e., neuroblastoma, brain tumors, rhabdomyosarcoma, acute lymphoblastic, and myeloid leukemia), but failed to identify a functionally relevant cancer-associated variant. While these results do not support a major role of somatic SHOC2 mutations in these pediatric cancers, this second instance of neuroblastoma in NSLAH suggests a possible predisposition to this malignancy in subjects heterozygous for the c.4A>G SHOC2 mutation. © 2015 Wiley Periodicals, Inc.

Using model based systems engineering for the development of the Large Synoptic Survey Telescope's operational plan

NASA Astrophysics Data System (ADS)

Selvy, Brian M.; Claver, Charles; Willman, Beth; Petravick, Don; Johnson, Margaret; Reil, Kevin; Marshall, Stuart; Thomas, Sandrine; Lotz, Paul; Schumacher, German; Lim, Kian-Tat; Jenness, Tim; Jacoby, Suzanne; Emmons, Ben; Axelrod, Tim

2016-08-01

We† provide an overview of the Model Based Systems Engineering (MBSE) language, tool, and methodology being used in our development of the Operational Plan for Large Synoptic Survey Telescope (LSST) operations. LSST's Systems Engineering (SE) team is using a model-based approach to operational plan development to: 1) capture the topdown stakeholders' needs and functional allocations defining the scope, required tasks, and personnel needed for operations, and 2) capture the bottom-up operations and maintenance activities required to conduct the LSST survey across its distributed operations sites for the full ten year survey duration. To accomplish these complimentary goals and ensure that they result in self-consistent results, we have developed a holistic approach using the Sparx Enterprise Architect modeling tool and Systems Modeling Language (SysML). This approach utilizes SysML Use Cases, Actors, associated relationships, and Activity Diagrams to document and refine all of the major operations and maintenance activities that will be required to successfully operate the observatory and meet stakeholder expectations. We have developed several customized extensions of the SysML language including the creation of a custom stereotyped Use Case element with unique tagged values, as well as unique association connectors and Actor stereotypes. We demonstrate this customized MBSE methodology enables us to define: 1) the rolls each human Actor must take on to successfully carry out the activities associated with the Use Cases; 2) the skills each Actor must possess; 3) the functional allocation of all required stakeholder activities and Use Cases to organizational entities tasked with carrying them out; and 4) the organization structure required to successfully execute the operational survey. Our approach allows for continual refinement utilizing the systems engineering spiral method to expose finer levels of detail as necessary. For example, the bottom-up, Use Case-driven approach will be deployed in the future to develop the detailed work procedures required to successfully execute each operational activity.

Cruciferous vegetable intake is inversely associated with lung cancer risk among smokers: a case-control study

PubMed Central

2010-01-01

Background Inverse associations between cruciferous vegetable intake and lung cancer risk have been consistently reported. However, associations within smoking status subgroups have not been consistently addressed. Methods We conducted a hospital-based case-control study with lung cancer cases and controls matched on smoking status, and further adjusted for smoking status, duration, and intensity in the multivariate models. A total of 948 cases and 1743 controls were included in the analysis. Results Inverse linear trends were observed between intake of fruits, total vegetables, and cruciferous vegetables and risk of lung cancer (ORs ranged from 0.53-0.70, with P for trend < 0.05). Interestingly, significant associations were observed for intake of fruits and total vegetables with lung cancer among never smokers. Conversely, significant inverse associations with cruciferous vegetable intake were observed primarily among smokers, in particular former smokers, although significant interactions were not detected between smoking and intake of any food group. Of four lung cancer histological subtypes, significant inverse associations were observed primarily among patients with squamous or small cell carcinoma - the two subtypes more strongly associated with heavy smoking. Conclusions Our findings are consistent with the smoking-related carcinogen-modulating effect of isothiocyanates, a group of phytochemicals uniquely present in cruciferous vegetables. Our data support consumption of a diet rich in cruciferous vegetables may reduce the risk of lung cancer among smokers. PMID:20423504

Evaluation of myeloid cells (tumor-associated tissue eosinophils and mast cells) infiltration in different grades of oral squamous cell carcinoma.

PubMed

Debta, Priyanka; Debta, Fakir Mohan; Chaudhary, Minal; Bussari, Smita

2016-01-01

The multifunctional involvement and infiltration of myeloid cells (tumor-associated tissue eosinophils [TATE] and mast cells) can provide a unique opportunity to define relevant effectors functions that may represent novel, therapeutic options for modulation of tumor onset/growth. Our study aimed to evaluate infiltration of myeloid cells (TATE and Mast cells) infiltration in different grades (WHO grading) of oral squamous cell carcinoma (OSCC). Total 30 cases of OSCC were selected for this study. Hematoxylin and eosin stain and toluidine blue special stain, to evaluate TATE and the mast cells infiltration, were used. Three-year follow-up of OSCC cases was done. Among 30 cases, 63.33% cases of OSCC showed TATE-positive and 36.66% cases showed TATE-negative. Regarding mast cells infiltration, 66.66% OSCC cases showed mast cells positive and 33.33% cases did not show significant mast cells infiltration. We found significant association of TATE and mast cells infiltration in OSCC cases. These myeloid cells infiltration significantly associated with age of patients but did not show any significant association with gender, site, and habit of cases. When we compared these cells infiltration with clinical stages and different histological grades of tumor, we found their infiltration is decreasing, from Stages 1 to Stage 3 of tumor and from well to poorly differentiated carcinoma. We have also found the less infiltration of these myeloid in recurrence cases of OSCC. As the infiltration of TATE and mast cells are correlated, along with evaluation of TATE, we should also evaluate the presence of mast cells infiltration in OSCC. The assessment of myeloid cells could become, in the future, useful for therapeutic approaches in this subset of the patient.

Green Neutrophilic Inclusions and Acute Hepatic Failure: Clinical Significance and Brief Review of the Literature.

PubMed

Haberichter, Kristle L; Crisan, Domnita

2017-01-01

Medical literature has documented an association between acute hepatic failure and coarse, bright-green neutrophilic inclusions. Upon identification of these unique inclusions patients have been reported to have poor outcomes and usually die within 24-72 hours. The exact nature of these inclusions has yet to be determined; it is postulated that they arise from lipofusion-like substance. Here, we describe five cases of acute hepatic failure, with associated bright-green neutrophilic inclusions, where four patients survived beyond the ominous 72-hour window period. © 2017 by the Association of Clinical Scientists, Inc.

Long-term health experience of jet engine manufacturing workers: VI: incidence of malignant central nervous system neoplasms in relation to estimated workplace exposures.

PubMed

Marsh, Gary M; Youk, Ada O; Buchanich, Jeanine M; Xu, Hui; Downing, Sarah; Kennedy, Kathleen J; Esmen, Nurtan A; Hancock, Roger P; Lacey, Steven E; Fleissner, Mary Lou

2013-06-01

To determine whether glioblastoma (GB) incidence rates among jet engine manufacturing workers were associated with specific chemical or physical exposures. Subjects were 210,784 workers employed from 1952 to 2001. We conducted a cohort incidence study and two nested case-control studies with focus on the North Haven facility where we previously observed a not statistically significant overall elevation in GB rates. We estimated individual-level exposure metrics for 11 agents. In the total cohort, none of the agent metrics considered was associated with increased GB risk. The GB incidence rates in North Haven were also not related to workplace exposures, including the "blue haze" exposure unique to North Haven. If not due to chance alone, GB rates in North Haven may reflect external occupational factors, nonoccupational factors, or workplace factors unique to North Haven unmeasured in the current evaluation.

Concordance Between Self-Reported Childhood Maltreatment Versus Case Record Reviews for Child Welfare–Affiliated Adolescents: Prevalence Rates and Associations With Outcomes

PubMed Central

Negriff, Sonya; Schneiderman, Janet U.; Trickett, Penelope K.

2017-01-01

The present study used data from an ongoing longitudinal study of the effects of maltreatment on adolescent development to (1) describe rates of maltreatment experiences obtained from retrospective self-report versus case record review for adolescents with child welfare–documented maltreatment histories, (2) examine self-reported versus child welfare–identified maltreatment in relation to mental health and risk behavior outcomes by maltreatment type, and (3) examine the association between the number of different types of maltreatment and mental health and risk behavior outcomes. Maltreatment was coded from case records using the Maltreatment Case Record Abstraction Instrument (MCRAI) and participants were asked at mean age = 18.49 about childhood maltreatment experiences using the Comprehensive Trauma Interview (CTI). Results showed that an average of 48% of maltreatment found by the MCRAI for each type of maltreatment were unique cases not captured by the CTI, whereas an average of 40% self-reported maltreatment (CTI) was not indicated by the MCRAI. Analyses with outcomes showed generally, self-reported maltreatment, regardless of concordance with MCRAI, was related to the poorest outcomes. The difference in associations with the outcomes indicates both self-report and case record review data may have utility depending on the outcomes being assessed. PMID:27777329

Acute respiratory infection case definitions for young children: a systematic review of community-based epidemiologic studies in South Asia.

PubMed

Roth, Daniel E; Gaffey, Michelle F; Smith-Romero, Evelyn; Fitzpatrick, Tiffany; Morris, Shaun K

2015-12-01

To explore the variability in childhood acute respiratory infection case definitions for research in low-income settings where there is limited access to laboratory or radiologic investigations. We conducted a systematic review of community-based, longitudinal studies in South Asia published from January 1990 to August 2013, in which childhood acute respiratory infection outcomes were reported. Case definitions were classified by their label (e.g. pneumonia, acute lower respiratory infection) and clinical content 'signatures' (array of clinical features that would be always present, conditionally present or always absent among cases). Case definition heterogeneity was primarily assessed by the number of unique case definitions overall and by label. We also compared case definition-specific acute respiratory infection incidence rates for studies reporting incidence rates for multiple case definitions. In 56 eligible studies, we found 124 acute respiratory infection case definitions. Of 90 case definitions for which clinical content was explicitly defined, 66 (73%) were unique. There was a high degree of content heterogeneity among case definitions with the same label, and some content signatures were assigned multiple labels. Within studies for which incidence rates were reported for multiple case definitions, variation in content was always associated with a change in incidence rate, even when the content differed by a single clinical feature. There has been a wide variability in case definition label and content combinations to define acute upper and lower respiratory infections in children in community-based studies in South Asia over the past two decades. These inconsistencies have important implications for the synthesis and translation of knowledge regarding the prevention and treatment of childhood acute respiratory infection. © 2015 John Wiley & Sons Ltd.

Nuclear morphometry in flat epithelial atypia of the breast as a predictor of malignancy: a digital image-based histopathologic analysis.

PubMed

Williams, Phillip A; Djordjevic, Bojana; Ayroud, Yasmine; Islam, Shahidul; Gravel, Denis; Robertson, Susan J; Parra-Herran, Carlos

2014-12-01

To identify morphometric features unique to flat epithelial atypia associated with cancer using digital image analysis. Cases with diagnosis of flat epithelial atypia were retrieved and divided into 2 groups: flat epithelial atypia associated with invasive or in situ carcinoma (n = 31) and those without malignancy (n = 27). Slides were digitally scanned. Nuclear features were analyzed on representative images at 20x magnification using digital morphometric software. Parameters related to nuclear shape and size (diameter, perimeter) were similar in both groups. However, cases with malignancy had significantly higher densitometric green (p = 0.02), red (p = 0.03), and grey (p = 0.02) scale levels as compared to cases without cancer. A mean grey densitometric level > 119.45 had 71% sensitivity and 70.4% specificity in detecting cases with concomitant carcinoma. Morphometry of features related to nuclear staining appears to be useful in predicting risk of concurrent malignancy in patients with flat epithelial atypia, when added to a comprehensive histopathologic evaluation.

Acute free-floating carotid artery thrombus causing stroke in a young patient: unique etiology and management using endovascular approach.

PubMed

Tan, Ai Peng; Taneja, Manish; Seah, Boon Heng; Leong, Hoe Nam; Venketasubramanian, Narayanaswamy

2014-01-01

Atherosclerotic disease accounts for 20%-30% of strokes in the general population. In young adults, it is an unexpected event and its causes involve diverse pathologies. Herein, we describe a unique case of acute embolic stroke in a young adult patient due to the presence of a large clot in the right common and internal carotid arteries, as a result of an extrinsic cause. Surgical clot retrieval was considered unsafe at that point in time in view of the active inflammatory changes surrounding the affected vessels. This was eventually treated with a novel endovascular technique, a unique alternative to open surgery, with excellent clinical outcome. To our knowledge, the penumbra system has never been used for thrombus removal in a nonacute setting. Copyright © 2014 National Stroke Association. Published by Elsevier Inc. All rights reserved.

Managing malignant pleural effusion with an indwelling pleural catheter: factors associated with spontaneous pleurodesis.

PubMed

Wong, W M; Tam, T Cc; Wong, M Ky; Lui, M Ms; Ip, M Sm; Lam, D Cl

2016-08-01

Malignant pleural effusion can be recurrent despite active anti-cancer treatment. Significant malignant pleural effusion leads to debilitating dyspnoea and worsening quality of life in patients with advanced cancer. An indwelling pleural catheter offers a novel means to manage recurrent malignant pleural effusion and may remove the need for repeated thoracocentesis. Spontaneous pleurodesis is another unique advantage of indwelling pleural catheter placement but the factors associated with its occurrence are not clearly established. The aims of this study were to explore the safety of an indwelling pleural catheter in the management of symptomatic recurrent malignant pleural effusion, and to identify the factors associated with spontaneous pleurodesis. This case series with internal comparisons was conducted in the Division of Respiratory Medicine, Department of Medicine, Queen Mary Hospital, Hong Kong. All patients who underwent insertion of an indwelling pleural catheter from the initiation of such service from January 2010 to December 2014 were included for data analysis. Patients were monitored until December 2014, with the last catheter inserted in July 2014. Between 2010 and 2014, a total of 23 indwelling pleural catheters were inserted in 22 consecutive patients with malignant pleural effusion, including 15 (65.2%) cases with malignant pleural effusion as a result of metastatic lung cancer. Ten (43.5%) cases achieved minimal output according to defined criteria, in five of whom the pleural catheter was removed without subsequent re-accumulation of effusion (ie spontaneous pleurodesis). Factors associated with minimal output were the absence of trapped lung (P=0.036), shorter time from first appearance of malignant pleural effusion to catheter insertion (P=0.017), and longer time from catheter insertion till patient's death or end of study (P=0.007). An indwelling pleural catheter provides a safe means to manage symptomatic malignant pleural effusion. Potential clinical factors associated with minimal output were identified along with the occurrence of spontaneous pleurodesis, which is a unique advantage offered by indwelling pleural catheter.

Antiviral therapy for HCV-associated cryoglobulinemic glomerulonephritis: case report and review of the literature.

PubMed

Fabrizi, Fabrizio; Fogazzi, Giovanni Battista; Cresseri, Donata; Passerini, Patrizia; Martin, Paul; Donato, Maria Francesca; Rumi, Maria Grazia; Messa, Piergiorgio

2012-01-01

We describe the case of a 51-year-old woman with HCV-associated cryoglobulinemic glomerulonephritis (GN). She presented mild deterioration of kidney function, non-nephrotic proteinuria, and active urinary sediment. Kidney biopsy showed features of membranoproliferative changes with some sclerosis. Sustained viral response (SVR) was obtained by 6 months of antiviral therapy (peg-IFN-α2a plus ribavirin). SVR was linked with improvement of kidney function and remission of proteinuria. Clinical and virological remission persists over a 25-month follow-up. This case report emphasizes efficacy and safety of antiviral treatment of HCV-associated glomerulonephritis--preliminary but encouraging results exist. We identified by systematic review of the literature 9 studies (156 unique patients); the pooled estimate of frequency of sustained virological response after IFN-based therapy was 0.49 (95% confidence interval, CI: 0.21, 0.77; p < 0.0005; random effects model). Heterogeneity was found (I(2) = 98.9%, p < 0.0001). Two possible regimens should be considered for the treatment of HCV-associated cryoglobulinemic GN according to the clinical presentation. Immunosuppressive therapy is recommended for HCV-related kidney disease having aggressive course, and recent evidence supports rituximab (RTX) use with a reduced exposure to corticosteroids. We identified six studies (66 unique patients) on RTX therapy for HCV-associated kidney disease; at the end of RTX therapy, the pooled estimate of the mean decrease in proteinuria was 1.4 g/24 h (95% CI: 0.75, 2.05, p < 0.001); The p test for heterogeneity gave a value of 0.94 (I(2) = 0). Several questions related to RTX use remain. HCV-induced GN is uncommon among CKD patients of developed countries, and this clearly hampers prospective controlled clinical trials aimed to evaluate efficacy and safety of antiviral or immunosuppressive therapy in this population. Copyright © 2013 S. Karger AG, Basel.

On the n-symplectic structure of faithful irreducible representations

NASA Astrophysics Data System (ADS)

Norris, L. K.

2017-04-01

Each faithful irreducible representation of an N-dimensional vector space V1 on an n-dimensional vector space V2 is shown to define a unique irreducible n-symplectic structure on the product manifold V1×V2 . The basic details of the associated Poisson algebra are developed for the special case N = n2, and 2n-dimensional symplectic submanifolds are shown to exist.

A classification of event sequences in the influence network

NASA Astrophysics Data System (ADS)

Walsh, James Lyons; Knuth, Kevin H.

2017-06-01

We build on the classification in [1] of event sequences in the influence network as respecting collinearity or not, so as to determine in future work what phenomena arise in each case. Collinearity enables each observer to uniquely associate each particle event of influencing with one of the observer's own events, even in the case of events of influencing the other observer. We further classify events as to whether they are spacetime events that obey in the fine-grained case the coarse-grained conditions of [2], finding that Newton's First and Second Laws of motion are obeyed at spacetime events. A proof of Newton's Third Law under particular circumstances is also presented.

The BRST complex of homological Poisson reduction

NASA Astrophysics Data System (ADS)

Müller-Lennert, Martin

2017-02-01

BRST complexes are differential graded Poisson algebras. They are associated with a coisotropic ideal J of a Poisson algebra P and provide a description of the Poisson algebra (P/J)^J as their cohomology in degree zero. Using the notion of stable equivalence introduced in Felder and Kazhdan (Contemporary Mathematics 610, Perspectives in representation theory, 2014), we prove that any two BRST complexes associated with the same coisotropic ideal are quasi-isomorphic in the case P = R[V] where V is a finite-dimensional symplectic vector space and the bracket on P is induced by the symplectic structure on V. As a corollary, the cohomology of the BRST complexes is canonically associated with the coisotropic ideal J in the symplectic case. We do not require any regularity assumptions on the constraints generating the ideal J. We finally quantize the BRST complex rigorously in the presence of infinitely many ghost variables and discuss the uniqueness of the quantization procedure.

Three-dimensional laser window formation for industrial application

NASA Technical Reports Server (NTRS)

Verhoff, Vincent G.; Kowalski, David

1993-01-01

The NASA Lewis Research Center has developed and implemented a unique process for forming flawless three-dimensional, compound-curvature laser windows to extreme accuracies. These windows represent an integral component of specialized nonintrusive laser data acquisition systems that are used in a variety of compressor and turbine research testing facilities. These windows are molded to the flow surface profile of turbine and compressor casings and are required to withstand extremely high pressures and temperatures. This method of glass formation could also be used to form compound-curvature mirrors that would require little polishing and for a variety of industrial applications, including research view ports for testing devices and view ports for factory machines with compound-curvature casings. Currently, sodium-alumino-silicate glass is recommended for three-dimensional laser windows because of its high strength due to chemical strengthening and its optical clarity. This paper discusses the main aspects of three-dimensional laser window formation. It focuses on the unique methodology and the peculiarities that are associated with the formation of these windows.

The anatomy of a shark attack: a case report and review of the literature.

PubMed

Caldicott, D G; Mahajani, R; Kuhn, M

2001-07-01

Shark attacks are rare but are associated with a high morbidity and significant mortality. We report the case of a patient's survival from a shark attack and their subsequent emergency medical and surgical management. Using data from the International Shark Attack File, we review the worldwide distribution and incidence of shark attack. A review of the world literature examines the features which make shark attacks unique pathological processes. We offer suggestions for strategies of management of shark attack, and techniques for avoiding adverse outcomes in human encounters with these endangered creatures.

A case of refeeding syndrome in a marine recruit.

PubMed

Bunge, Paul D; Frank, Laura L

2013-04-01

Refeeding syndrome is an under-recognized complication of starvation. Presented is a 26-year-old Marine recruit who was found to have hypothermia, mental status changes, and rhabdomyolysis after purposeful weight loss with calorie restriction in conjunction with an arduous exercise program. With rest and food, the patient developed refeeding syndrome, with hypophosphatemia requiring prolonged intravenous replacement. His case is unique in illustrating both malnutrition and refeeding syndrome in someone who appeared to be healthy and was exercising strenuously up to the point of hospital admission. Reprint & Copyright © 2013 Association of Military Surgeons of the U.S.

Aripiprazole-Induced Hypoprolactinemia in an Adult Male with First-Episode Psychosis.

PubMed

Propst, Alanna J; Jarvis, G Eric; Margolese, Howard C

2016-01-01

Aripiprazole is an atypical antipsychotic that acts as a partial agonist at dopamine D2 receptors. Compared to other atypical antipsychotics, aripiprazole has less metabolic side effects and is less likely to increase prolactin. Moreover, it has been shown to have a unique prolactin lowering effect. While aripiprazole has been associated with subnormal prolactin levels in children, no documented cases of hypoprolactinemia in adults exist thus far. Here we report a case of aripiprazole-induced hypoprolactinemia in an adult male with first-episode psychosis, and the possible effects of abnormally low prolactin are discussed.

A Rare Variant of Wallenberg’s Syndrome: Opalski syndrome

PubMed Central

KK, Parathan; P, Chitrambalam; Aiyappan, Senthil Kumar; N, Deepthi

2014-01-01

Lateral Medullary Syndrome (LMS) is a well-documented vascular syndrome of the posterior circulation territory. This syndrome is easily localised because of characteristic presentation, unique territory of blood supply and very small area of involvement. We present a case of Wallenberg’s syndrome which did not have all the classical components of the syndrome, like Horner’s syndrome. Opalski syndrome is a rare variant of Wallenberg syndrome, where lateral medullary syndrome is associated with ipsilateral hemiparesis. This case report highlights how differential involvement of the lateral part of medulla can result in varied presentation. PMID:25177595

Temporally separated bilateral anal sac gland carcinomas in four dogs.

PubMed

Bowlt, K L; Friend, E J; Delisser, P; Murphy, S; Polton, G

2013-08-01

Anal sac gland carcinoma arising from the apocrine secretory epithelium in the anal sac wall, is locally invasive and highly metastatic. The majority of anal sac gland carcinomas are unilateral on presentation, but bilateral tumours have been identified. This case series presents the outcome of four unique cases of unilateral anal sac gland carcinoma which subsequently developed contralateral anal sac gland carcinoma 50 to 390 days after removal of the initial tumour. Median survival was 1035 days after initial diagnosis and 807 days after diagnosis of the second anal sac gland carcinoma. © 2013 British Small Animal Veterinary Association.

The lingual splint: an often forgotten method for fixating pediatric mandibular fractures.

PubMed

Binahmed, Abdulaziz; Sansalone, Claudio; Garbedian, Justin; Sándor, George K B

2007-01-01

Maxillofacial fractures are uncommon in the pediatric population, and their treatment is unique due to the psychological, physiological, developmental and anatomical characteristics of children. We present the case of a boy who was treated in an outpatient dental clinic using a lingual splint for the reduction, stabilization and fixation of a mandibular body fracture. This technique is a reliable, noninvasive procedure that dentists may consider in selected cases by referral to an oral and maxillofacial surgeon. It also limits the discomfort and morbidity that can be associated with maxillomandibular fixation or open reduction and internal fixation in pediatric patients.

Metachronous and Synchronous Presentation of Acute Myeloid Leukemia and Lung Cancer

PubMed Central

Varadarajan, Ramya; Ford, LaurieAnn; Sait, Sheila NJ; Block, AnneMarie W.; Barcos, Maurice; Wallace, Paul K.; Ramnath, Nithya; Wang, Eunice S.; Wetzler, Meir

2009-01-01

Smoking is associated with both acute myeloid leukemia (AML) and lung cancer. We therefore searched our database for concomitant presentation of AML and lung cancer. Among 775 AML cases and 5225 lung cancer cases presenting to Roswell Park Cancer Institute between the years January 1992 and May 2008 we found 12 (1.5% of AML cases; 0.23% of lung cancer cases) cases (seven metachronous and five synchronous) with AML and lung cancer. All but one patient were smokers. There were no unique characteristic of either AML or lung cancer in these patients. Nine patients succumbed to AML, one died from an unrelated cause while undergoing treatment for AML, one died of lung cancer and one patient is alive after allogeneic transplantation for AML. In summary, this study supports the need for effective smoking cessation programs. PMID:19181380

Epstein-Barr virus-associated peripheral T-Cell lymphoma involving spleen in a renal transplant patient.

PubMed Central

Lee, Hye Kyung; Kim, Hee Jung; Lee, Eun Hee; Kim, Suk Young; Park, Tae In; Kang, Chang Suk; Yang, Woo Ick

2003-01-01

The incidence of posttransplantation lymphoproliferative disorders (PTLDs) has increased in recent years. Although rare, various types of T-cell lymphoma have been reported and their association with Epstein-Barr virus (EBV) has been compared with B-cell PTLDs. We report a case of splenic peripheral T-cell lymphoma occurring in a 47-yr-old male patient 7 yr after renal allograft transplantation. The spleen showed sinusoidal proliferation of focal CD30 positive, large, atypical lymphoid cells. Positivity for CD3 and cytolytic granule-associated proteins was also demonstrated in the tumor cells, while anaplastic large cell lymphoma kinase (ALK) and CD8 were not expressed. Strong nuclear signals for EBV mRNA were noted by EBER1 in situ hybridization. A molecular genetic study demonstrated a rearrangement of the gamma T-cell receptor gene. To our knowledge, this case is unique in terms of a posttransplant T-cell lymphoma that shows focal CD30, cytolytic granule-associated proteins, and EBV positivity. PMID:12692428

Thick keratoconic cornea associated with posterior polymorphous corneal dystrophy.

PubMed

Zaarour, K; Slim, E; Antoun, J; Waked, N

2017-03-01

We herein report a case of bilateral unusually thick non-edematous keratoconic corneas with associated endothelial features of posterior polymorphous corneal dystrophy (PPCD). We report the case of a 27-year-old myopic woman who presented for refractive surgery. Slit lamp exam showed bilateral corneal protrusion with diffuse deep stromal and endothelial vesicular opacities and small paracentral bands. Topography showed generalized advanced corneal steepening in both eyes with increased anterior and posterior central corneal elevations in comparison to the best fit sphere. Ultrasound pachymetry showed central corneal thickness of 605μm (RE) and 612μm (LE). On specular biomicroscopy, cell density of 2503 cells/mm 2 RE and 1526 cells/mm 2 LE with significant cellular pleomorphism and polymegathism were noted. Clinical and paraclinical findings together suggest the presence of simultaneous keratoconus and PPCD. The literature has suggested an association between PPCD and steep cornea. Moreover, many reports have also described cases of associated PPCD and keratoconus with characteristic thinning and ectasia, in comparison to the unusual thick corneas noted in our patient, despite the absence of edema. Identification of genetics factors is further needed to clarify this association. This case describes a patient whose corneas present features of both keratoconus and PPCD and is unique due to the presence of increased corneal thickness despite the absence of edema. Copyright © 2016 Elsevier Masson SAS. All rights reserved.

Kindler syndrome with palmoplantar hyperhidrosis and blonde hair.

PubMed

Maheshwari, Anshul; Dhaked, Daulat Ram; Mathur, Deepak K; Bhargava, Puneet

2015-01-01

Kindler syndrome (KS) is a very rare genodermatosis characterized by acral blistering starting in infancy along with photosensitivity, progressive poikiloderma, cutaneous atrophy, and a variable degree of mucosal involvement. A large number of other cutaneous and extracutaneous features have been described, which aid in diagnosing it. Generally KS has been found to be associated with hypohidrosis/anhidrosis. We herein present a rare case of KS with unique features.

How the Army Runs: A Senior Leader Reference Handbook, 2011-2012

DTIC Science & Technology

2011-01-01

5c. PROGRAM ELEMENT NUMBER 6. AUTHOR(S) 5d. PROJECT NUMBER 5e. TASK NUMBER 5f. WORK UNIT NUMBER 7. PERFORMING ORGANIZATION NAME(S) AND ADDRESS(ES...objectives, carrying out engineer construction projects , by emphasizing the uniqueness of the function and providing associated specialty career...Bringing about change, whether evolutionary or revolutionary, in cases where performance does not meet present requirements, or the projected security

How The Army Runs. A Senior Leader Reference Handbook 2009-2010

DTIC Science & Technology

2010-01-01

PROGRAM ELEMENT NUMBER 6. AUTHOR(S) 5d. PROJECT NUMBER 5e. TASK NUMBER 5f. WORK UNIT NUMBER 7. PERFORMING ORGANIZATION NAME(S) AND ADDRESS(ES...recruiting objectives, carrying out engineer construction projects , by emphasizing the uniqueness of the function and providing associated specialty career...change, whether evolutionary or revolutionary, in cases where performance does not meet present requirements, or the projected security needs of the

Alkylating chemotherapy may exert a uniquely deleterious effect upon neo-antigen-targeting anticancer vaccination

PubMed Central

Litterman, Adam J; Dudek, Arkadiusz Z; Largaespada, David A

2013-01-01

Alkylating chemotherapy exerts both antineoplastic and immunostimulatory effects. However, in addition to depleting regulatory T cells (Treg), alkylating agents also mediate a long lasting antiproliferative effect on responder lymphocytes. Our recent findings indicate that this antiproliferative effect profoundly impairs vaccination-induced immune responses, especially in the case of vaccines that target specific tumor-associated neo-antigens that do not require Treg depletion. PMID:24251080

Ruptured posterior ethmoidal artery aneurysm and Moyamoya disease in an adult patient. Case report.

PubMed

Mélot, A; Chazot, J-V; Troude, L; De la Rosa, S; Brunel, H; Roche, P-H

2016-06-01

The association between Moyamoya disease and intracranial aneurysms is well described. In our case, we describe a unique aneurismal location and its management. We report the case of a 74-year-old woman affected by a Moyamoya disease who displayed a frontal lobe hematoma. The origin of the bleeding came from the rupture of a posterior ethmoidal artery aneurysm that was treated surgically with favourable outcome. This case of a ruptured posterior ethmoidal artery aneurysm in a Moyamoya patient illustrates the polymorphism of the vascular complications encountered in this disease. It stresses the need to obtain information from an angiographic investigation in order to select the best therapeutic option and to reduce procedural complications. Copyright © 2016 Elsevier Masson SAS. All rights reserved.

Internal and external resorption in a lower molar with an associated endodontic-periodontic lesion: a case report.

PubMed

Komabayashi, Takashi; Zhu, Qiang

2012-08-01

This article describes a unique case in which both internal and external inflammatory resorption and endodontic-periodontic lesions were present at the same time in the patient's left mandibular first molar. Based on clinical and radiographic findings, it was determined that the nature of this case was a pulpal infection-induced inflammatory resorption and furcation lesion. After root canal therapy, the furcation lesion and external inflammatory resorption were completely resolved. This case indicates that the correct diagnosis of the stimulating factor for tooth resorption and determination of the primary origin of endodontic-periodontic lesions are critical for clinical management and success. Published 2011. This article is a U.S. Government work and is in the public domain in the USA.

NordicDB: a Nordic pool and portal for genome-wide control data.

PubMed

Leu, Monica; Humphreys, Keith; Surakka, Ida; Rehnberg, Emil; Muilu, Juha; Rosenström, Päivi; Almgren, Peter; Jääskeläinen, Juha; Lifton, Richard P; Kyvik, Kirsten Ohm; Kaprio, Jaakko; Pedersen, Nancy L; Palotie, Aarno; Hall, Per; Grönberg, Henrik; Groop, Leif; Peltonen, Leena; Palmgren, Juni; Ripatti, Samuli

2010-12-01

A cost-efficient way to increase power in a genetic association study is to pool controls from different sources. The genotyping effort can then be directed to large case series. The Nordic Control database, NordicDB, has been set up as a unique resource in the Nordic area and the data are available for authorized users through the web portal (http://www.nordicdb.org). The current version of NordicDB pools together high-density genome-wide SNP information from ∼5000 controls originating from Finnish, Swedish and Danish studies and shows country-specific allele frequencies for SNP markers. The genetic homogeneity of the samples was investigated using multidimensional scaling (MDS) analysis and pairwise allele frequency differences between the studies. The plot of the first two MDS components showed excellent resemblance to the geographical placement of the samples, with a clear NW-SE gradient. We advise researchers to assess the impact of population structure when incorporating NordicDB controls in association studies. This harmonized Nordic database presents a unique genome-wide resource for future genetic association studies in the Nordic countries.

NordicDB: a Nordic pool and portal for genome-wide control data

PubMed Central

Leu, Monica; Humphreys, Keith; Surakka, Ida; Rehnberg, Emil; Muilu, Juha; Rosenström, Päivi; Almgren, Peter; Jääskeläinen, Juha; Lifton, Richard P; Kyvik, Kirsten Ohm; Kaprio, Jaakko; Pedersen, Nancy L; Palotie, Aarno; Hall, Per; Grönberg, Henrik; Groop, Leif; Peltonen, Leena; Palmgren, Juni; Ripatti, Samuli

2010-01-01

A cost-efficient way to increase power in a genetic association study is to pool controls from different sources. The genotyping effort can then be directed to large case series. The Nordic Control database, NordicDB, has been set up as a unique resource in the Nordic area and the data are available for authorized users through the web portal (http://www.nordicdb.org). The current version of NordicDB pools together high-density genome-wide SNP information from ∼5000 controls originating from Finnish, Swedish and Danish studies and shows country-specific allele frequencies for SNP markers. The genetic homogeneity of the samples was investigated using multidimensional scaling (MDS) analysis and pairwise allele frequency differences between the studies. The plot of the first two MDS components showed excellent resemblance to the geographical placement of the samples, with a clear NW–SE gradient. We advise researchers to assess the impact of population structure when incorporating NordicDB controls in association studies. This harmonized Nordic database presents a unique genome-wide resource for future genetic association studies in the Nordic countries. PMID:20664631

BHD-associated kidney cancer exhibits unique molecular characteristics and a wide variety of variants in chromatin remodeling genes.

PubMed

Hasumi, Hisashi; Furuya, Mitsuko; Tatsuno, Kenji; Yamamoto, Shogo; Baba, Masaya; Hasumi, Yukiko; Isono, Yasuhiro; Suzuki, Kae; Jikuya, Ryosuke; Otake, Shinji; Muraoka, Kentaro; Osaka, Kimito; Hayashi, Narihiko; Makiyama, Kazuhide; Miyoshi, Yasuhide; Kondo, Keiichi; Nakaigawa, Noboru; Kawahara, Takashi; Izumi, Koji; Teranishi, Junichi; Yumura, Yasushi; Uemura, Hiroji; Nagashima, Yoji; Metwalli, Adam R; Schmidt, Laura S; Aburatani, Hiroyuki; Linehan, W Marston; Yao, Masahiro

2018-05-14

Birt-Hogg-Dubé (BHD) syndrome is a hereditary kidney cancer syndrome, which predisposes patients to develop kidney cancer, cutaneous fibrofolliculomas and pulmonary cysts. The responsible gene FLCN is a tumor suppressor for kidney cancer which plays an important role in energy homeostasis through the regulation of mitochondrial oxidative metabolism. However, the process by which FLCN-deficiency leads to renal tumorigenesis is unclear. In order to clarify molecular pathogenesis of BHD-associated kidney cancer, we conducted whole-exome sequencing analysis using next-generation sequencing technology as well as metabolite analysis using LC/MS and GC/MS. Whole-exome sequencing analysis of BHD-associated kidney cancer revealed that copy number variations (CNV) of BHD-associated kidney cancer are considerably different from those already reported in sporadic cases. In somatic variant analysis, very few variants were commonly observed in BHD-associated kidney cancer; however, variants in chromatin remodeling genes were frequently observed in BHD-associated kidney cancer (17/29 tumors, 59%). Metabolite analysis of BHD-associated kidney cancer revealed metabolic reprogramming towards upregulated redox regulation which may neutralize reactive oxygen species potentially produced from mitochondria with increased respiratory capacity under FLCN-deficiency. BHD-associated kidney cancer displays unique molecular characteristics which are completely different from sporadic kidney cancer, providing mechanistic insight into tumorigenesis under FLCN-deficiency as well as a foundation for development of novel therapeutics for kidney cancer.

Dental erosion due to abuse of illicit drugs and acidic carbonated beverages.

PubMed

Bassiouny, Mohamed A

2013-01-01

Consumption of illicit drugs and the abusive intake of acidic carbonated beverages (particularly soda) often are associated with similar types of damage to the human dentition, the most common of which is dental erosion. The dentitions of individuals who are addicted to methamphetamines or crack cocaine can be misdiagnosed as dental caries rather than generalized dental erosion, a condition that also is associated with chronic excessive consumption of soda. Failing to identify the causative etiology could lead to a wrongful diagnosis that could in turn adversely affect treatment planning and misdirect a specified prevention protocol. This article seeks to identify the unique clinical features of each one of these conditions, highlight the resemblances between them, and recognize the unambiguous differences in their fundamental characteristics. Three representative cases-involving a methamphetamine user, a crack cocaine addict, and an avid consumer of diet soda-are presented. In each case, the patient has admitted to the cause of their poor oral health. The dental, oral, and paraoral manifestations of each case are documented and differentiated from one another, and the factors that contributed to the associated disease process are discussed.

Do the exome: A case of Williams-Beuren syndrome with severe epilepsy due to a truncating de novo variant in GABRA1.

PubMed

Popp, Bernt; Trollmann, Regina; Büttner, Christian; Caliebe, Almuth; Thiel, Christian T; Hüffmeier, Ulrike; Reis, André; Zweier, Christiane

2016-10-01

Williams-Beuren syndrome (WBS) is a relatively common, clinically recognizable microdeletion syndrome. In most cases the typical heterozygous deletion of 1.5 Mb on chromosome 7q11.23 spanning about 26 genes can be identified. Also some larger or smaller atypical deletions have been reported and associated with additional or atypical phenotypic aspects. We report on an individual with typical WBS due to the common deletion and with refractory infantile spasms. Using trio-exome sequencing, we identified a de novo truncating variant c.1200del, p (Lys401Serfs*25) in GABRA1 as the likely cause of the early onset epilepsy. This unique case not only allows to further define the phenotypic spectrum of infantile epileptic encephalopathy associated with rare de novo GABRA1 variants but exemplifies the need for a sensitive review of unclear associations in clinically defined syndromes and for extended diagnostic work-up in individuals with unusual presentations of a genetically confirmed diagnosis. Copyright © 2016 Elsevier Masson SAS. All rights reserved.

Thermodynamic constraints on fluctuation phenomena

NASA Astrophysics Data System (ADS)

Maroney, O. J. E.

2009-12-01

The relationships among reversible Carnot cycles, the absence of perpetual motion machines, and the existence of a nondecreasing globally unique entropy function form the starting point of many textbook presentations of the foundations of thermodynamics. However, the thermal fluctuation phenomena associated with statistical mechanics has been argued to restrict the domain of validity of this basis of the second law of thermodynamics. Here we demonstrate that fluctuation phenomena can be incorporated into the traditional presentation, extending rather than restricting the domain of validity of the phenomenologically motivated second law. Consistency conditions lead to constraints upon the possible spectrum of thermal fluctuations. In a special case this uniquely selects the Gibbs canonical distribution and more generally incorporates the Tsallis distributions. No particular model of microscopic dynamics need be assumed.

Thermodynamic constraints on fluctuation phenomena.

PubMed

Maroney, O J E

2009-12-01

The relationships among reversible Carnot cycles, the absence of perpetual motion machines, and the existence of a nondecreasing globally unique entropy function form the starting point of many textbook presentations of the foundations of thermodynamics. However, the thermal fluctuation phenomena associated with statistical mechanics has been argued to restrict the domain of validity of this basis of the second law of thermodynamics. Here we demonstrate that fluctuation phenomena can be incorporated into the traditional presentation, extending rather than restricting the domain of validity of the phenomenologically motivated second law. Consistency conditions lead to constraints upon the possible spectrum of thermal fluctuations. In a special case this uniquely selects the Gibbs canonical distribution and more generally incorporates the Tsallis distributions. No particular model of microscopic dynamics need be assumed.

The unique case of foot drop secondary to a large ovarian cyst.

PubMed

Ahmad, Maleeha; Kumar, Aditaya; Thomson, Simon

2014-08-01

We describe the unique case of a 58-year-old woman who presented with right leg radiculopathy caused by an ovarian cyst mimicking lumbar pathology. A review of the literature shows that this is a rare case where a histologically confirmed benign ovarian cystadenoma (of indeterminate type) is shown to cause foot drop and radiculopathy.

An evaluation of the effectiveness of a case-specific approach to challenging behaviour associated with dementia.

PubMed

Bird, Michael; Llewellyn-Jones, Robert H; Korten, Ailsa

2009-01-01

Treatment of challenging behaviour in dementia using standardized psychopharmacological or psychosocial approaches remains problematical. A case-specific approach was trialled in this study, based on extensive evidence that each case is different in aetiology, the effects of the behaviour on others and what interventions are possible given the available resources. Forty-four consecutive referrals for challenging behaviour (two-thirds in residential care) were assessed across multiple causal domains. Both assessment and development of interventions were undertaken in collaboration with family carers and care staff. Measures of behaviour and associated carer distress, as well as medication and service use, were taken pre-intervention and at 2- and 5-month follow-ups. Psychotropic medication was used with a minority of participants but, overall, antipsychotic use was reduced. Psychosocial methods predominated, with 77% of cases judged as mainly or entirely psychosocial by an expert panel. There were significant mean improvements in behaviour and carer distress. Using conservative criteria there was a 65.9% clinical success rate. Results confirm those of other studies which have used multifaceted interventions tailored to the unique needs of each case. They compare favourably with results from trials of standardized psycho-pharmacological or psychosocial approaches. More trials are needed, necessarily involving further development of robust methodologies which reflect the case-specific nature of challenging behaviour associated with dementia.

CHD2 variants are a risk factor for photosensitivity in epilepsy

PubMed Central

Myers, Candace T.; Leu, Costin; de Kovel, Carolien G. F.; Afrikanova, Tatiana; Cordero-Maldonado, Maria Lorena; Martins, Teresa G.; Jacmin, Maxime; Drury, Suzanne; Krishna Chinthapalli, V.; Muhle, Hiltrud; Pendziwiat, Manuela; Sander, Thomas; Ruppert, Ann-Kathrin; Møller, Rikke S.; Thiele, Holger; Krause, Roland; Schubert, Julian; Lehesjoki, Anna-Elina; Nürnberg, Peter; Lerche, Holger; Palotie, Aarno; Coppola, Antonietta; Striano, Salvatore; Gaudio, Luigi Del; Boustred, Christopher; Schneider, Amy L.; Lench, Nicholas; Jocic-Jakubi, Bosanka; Covanis, Athanasios; Capovilla, Giuseppe; Veggiotti, Pierangelo; Piccioli, Marta; Parisi, Pasquale; Cantonetti, Laura; Sadleir, Lynette G.; Mullen, Saul A.; Berkovic, Samuel F.; Stephani, Ulrich; Helbig, Ingo; Crawford, Alexander D.; Esguerra, Camila V.; Kasteleijn-Nolst Trenité, Dorothee G. A.

2015-01-01

Photosensitivity is a heritable abnormal cortical response to flickering light, manifesting as particular electroencephalographic changes, with or without seizures. Photosensitivity is prominent in a very rare epileptic encephalopathy due to de novo CHD2 mutations, but is also seen in epileptic encephalopathies due to other gene mutations. We determined whether CHD2 variation underlies photosensitivity in common epilepsies, specific photosensitive epilepsies and individuals with photosensitivity without seizures. We studied 580 individuals with epilepsy and either photosensitive seizures or abnormal photoparoxysmal response on electroencephalography, or both, and 55 individuals with photoparoxysmal response but no seizures. We compared CHD2 sequence data to publicly available data from 34 427 individuals, not enriched for epilepsy. We investigated the role of unique variants seen only once in the entire data set. We sought CHD2 variants in 238 exomes from familial genetic generalized epilepsies, and in other public exome data sets. We identified 11 unique variants in the 580 individuals with photosensitive epilepsies and 128 unique variants in the 34 427 controls: unique CHD2 variation is over-represented in cases overall (P = 2·17 × 10−5). Among epilepsy syndromes, there was over-representation of unique CHD2 variants (3/36 cases) in the archetypal photosensitive epilepsy syndrome, eyelid myoclonia with absences (P = 3·50 × 10−4). CHD2 variation was not over-represented in photoparoxysmal response without seizures. Zebrafish larvae with chd2 knockdown were tested for photosensitivity. Chd2 knockdown markedly enhanced mild innate zebrafish larval photosensitivity. CHD2 mutation is the first identified cause of the archetypal generalized photosensitive epilepsy syndrome, eyelid myoclonia with absences. Unique CHD2 variants are also associated with photosensitivity in common epilepsies. CHD2 does not encode an ion channel, opening new avenues for research into human cortical excitability. PMID:25783594

LCA – Unique and Controversial Case Studies

EPA Science Inventory

This session will focus on case studies and applications that have a unique or controversial aspect. Some of the most recent topics that seem to have significant interest include: LCA-based product declarations, LCA-based standards, LCA-based labels, alternative energy, agricul...

Significant Hyperbilirubinemia and Acute Hepatocellular Jaundice in a Pediatric Patient Receiving Deferasirox: A Case Report.

PubMed

Feldman, Elizabeth A; Miller, Christopher D; Wojnowicz, Sarabeth; Seabury, Robert

2018-01-01

Despite a boxed warning, postmarketing reports of deferasirox-associated hepatic injury in patients with chronic transfusions are not well described. Hepatic impairment, including failure, has been reported to occur more frequently in patients older than 55 years and in those with significant comorbidities, including liver cirrhosis and multiorgan failure. In this case report, we describe significant hyperbilirubinemia and acute hepatocellular jaundice related to deferasirox in a 7-year-old female being treated for iron overload secondary to chronic transfusions. This report outlines a unique case without preexisting risk factors in which other causes of liver injury are excluded as defined by the Roussel Uclaf Causality Assessment Method, which indicates a probable score of deferasirox causing the injury.

Significant Hyperbilirubinemia and Acute Hepatocellular Jaundice in a Pediatric Patient Receiving Deferasirox: A Case Report

PubMed Central

Miller, Christopher D.; Wojnowicz, Sarabeth; Seabury, Robert

2018-01-01

Despite a boxed warning, postmarketing reports of deferasirox-associated hepatic injury in patients with chronic transfusions are not well described. Hepatic impairment, including failure, has been reported to occur more frequently in patients older than 55 years and in those with significant comorbidities, including liver cirrhosis and multiorgan failure. In this case report, we describe significant hyperbilirubinemia and acute hepatocellular jaundice related to deferasirox in a 7-year-old female being treated for iron overload secondary to chronic transfusions. This report outlines a unique case without preexisting risk factors in which other causes of liver injury are excluded as defined by the Roussel Uclaf Causality Assessment Method, which indicates a probable score of deferasirox causing the injury. PMID:29491755

A rare case of an aggressive osteoblastoma of the squamous temporal bone: a unique presentation with literature review.

PubMed

Mohanty, Sujata; Rani, Amita; Urs, A B; Dabas, Jitender

2014-10-01

Aggressive osteoblastoma is a rare osteoid tissue forming tumour commonly affecting the spine with predilection for the posterior elements. Calvarial involvement is extremely rare with only two reported cases in the literature. Due to its overlapping clinical, radiographic and histological features with ossifying fibroma, benign osteoblastoma and osteosarcoma, it is very difficult accurately to diagnose this lesion at an early stage. A rare case of an aggressive osteoblastoma of the squamous temporal bone in a young male is presented here which was misdiagnosed twice before reaching the final diagnosis by correlating clinical, radiographic and histopathological features. Copyright © 2014 European Association for Cranio-Maxillo-Facial Surgery. Published by Elsevier Ltd. All rights reserved.

Hand injury with a nail gun: a case report with literature review.

PubMed

Boya, Hakan; Uzun, Belkan

2015-01-01

The nail gun was introduced in the late 1950s to increase the ease of driving nails, studs, bolts, or staples into various hard surfaces. The nail gun is a potentially dangerous device that is still commonly used in the construction industry. Since its introduction, an increasing number of studies have reported injuries associated with nail guns. Nail gun-related injuries-such as to the head, neck, and chest-can be devastating, and in some cases, even fatal. Extremity injuries, notably in the hand, can cause loss of function, missed work, and long-term health effects. This case report describes a nail-gun injury of the hand along with a discussion of the unique features of and treatment strategies for nail gun injuries.

Consumption of coffee, but not black tea, is associated with decreased risk of premenopausal breast cancer.

PubMed

Baker, Julie A; Beehler, Gregory P; Sawant, Abhishek C; Jayaprakash, Vijayvel; McCann, Susan E; Moysich, Kirsten B

2006-01-01

Caffeine has been suggested as a possible risk factor for breast cancer, potentially through its effect of facilitating the development of benign breast disease. However, coffee and tea also contain polyphenols, which exhibit anticarcinogenic properties. A hospital-based, case-control study was conducted to evaluate the role of coffee, decaffeinated coffee, and black tea in breast cancer etiology. Study participants included 1932 cases with primary, incident breast cancer and 1895 hospital controls with nonneoplastic conditions. All participants completed a comprehensive epidemiological questionnaire. Among premenopausal women, consumption of regular coffee was associated with linear declines in breast cancer risk (P for trend = 0.03); consumers of >or=4 cups/d experienced a 40% risk reduction (odds ratio = 0.62, 95% CI 0.39-0.98). No clear associations between intake of black tea or decaffeinated coffee and breast cancer risk were noted among premenopausal women, although black tea was associated with a protective effect unique to a subsample of cases with lobular histology. Among postmenopausal women, breast cancer risk was not associated with consumption of coffee, tea, or decaffeinated coffee. Results among postmenopausal women did not differ by histologic subtype. Our findings support a protective effect of coffee intake on premenopausal, but not postmenopausal breast cancer risk. Further studies are warranted to confirm these findings.

Global asymptotic stability analysis of bidirectional associative memory neural networks with time delays.

PubMed

Arik, Sabri

2005-05-01

This paper presents a sufficient condition for the existence, uniqueness and global asymptotic stability of the equilibrium point for bidirectional associative memory (BAM) neural networks with distributed time delays. The results impose constraint conditions on the network parameters of neural system independently of the delay parameter, and they are applicable to all continuous nonmonotonic neuron activation functions. It is shown that in some special cases of the results, the stability criteria can be easily checked. Some examples are also given to compare the results with the previous results derived in the literature.

Unexpected disappearance of portal cavernoma on long-term anticoagulation.

PubMed

Silva-Junior, Gilberto; Turon, Fanny; Hernandez-Gea, Virginia; Darnell, Anna; García-Criado, Ángeles; García-Pagán, Juan Carlos

2014-08-01

Idiopathic non-cirrhotic portal hypertension is a rare disease of unknown etiology. Patients with idiopathic non-cirrhotic portal hypertension have an increased risk of developing portal vein thrombosis and this is especially prevalent when HIV is also present. We describe a unique case of a patient with idiopathic non-cirrhotic portal hypertension associated to HIV, who developed acute portal vein thrombosis that despite anticoagulation transformed in portal cavernoma and disappeared completely after five years of follow-up on continuous anticoagulation. Copyright © 2014 European Association for the Study of the Liver. Published by Elsevier B.V. All rights reserved.

Necrotizing crescentic glomerulonephritis related to sarcoidosis: a case report.

PubMed

Maroz, Natallia; Field, Halle

2015-12-14

Renal injury due to sarcoidosis develops in less than a quarter of patients with this systemic disease. In most cases, granulomatous tissue alters the production of vitamin D, which leads to hypercalciuria, nephrocalcinosis, and nephrolithiasis. Granulomatous interstitial nephritis is another well-recognized pathological process associated with sarcoidosis. However, a glomerular pathology is very rarely noted, and only a few cases are reported to have cellular crescentic glomerulonephritis. We describe the case of a 26-year-old African American woman with systemic sarcoidosis, with a unique constellation of renal lesions, including noncaseating epithelioid granulomatous necrotizing interstitial nephritis, cellular crescent formation, and necrotizing vasculitis. Immunosuppressive therapy was helpful for alleviating her nephrotic syndrome and maintaining the stability of her renal function over a 30-month period. Glomerular involvement of sarcoidosis needs to be considered in the differential diagnosis in cases of rapidly progressive glomerular nephritis.

Clinico-pathological Characteristics of Congenital Pulmonary Lymphangiectasis: Report of Two Cases

PubMed Central

Eom, Minseob; Choi, Yoo Duk; Kim, Youn Shin; Cho, Mee-Yon; Lee, Han Young

2007-01-01

Congenital pulmonary lymphangiectasis (CPL) is a rare, poorly documented disease, characterized by abnormal dilatation of pulmonary lymphatics without lymphatic proliferation. This disease is seen almost exclusively in infancy and early childhood. It can usually be divided into primary (congenital) and secondary forms. The primary form presents in neonates, and the patients mostly die due to the respiratory distress, shortly after birth. The authors experienced two cases of primary CPL in a 13-day-old male neonate and a one-day-old male neonate, showing prominent lymphatic dilatation in the septal, subpleural, and peri-bronchial tissue throughout both lungs. The latter case was associated with congenital cardiac anomaly including single ventricle. These are unique cases of CPL in Korea of which the diagnosis was established through post-mortem examination. Therefore, the authors report these two cases with primary CPL with a review of the literature. PMID:17728521

DRESS syndrome with thrombotic microangiopathy revealing a Noonan syndrome: Case report.

PubMed

Bobot, Mickaël; Coen, Matteo; Simon, Clémentine; Daniel, Laurent; Habib, Gilbert; Serratrice, Jacques

2018-04-01

The life-threatening drug rash with eosinophilia and systemic symptoms (DRESS) syndrome occurs most commonly after exposure to drugs, clinical features mimic those found with other serious systemic disorders. It is rarely associated with thrombotic microangiopathy. We describe the unique case of a 44-year-old man who simultaneously experienced DRESS syndrome with thrombotic microangiopathy (TMA) after a 5 days treatment with fluindione. Clinical evaluation leads to the discovery of an underlying lymphangiomatosis, due to a Noonan syndrome. The anticoagulant was withdrawn, and corticosteroids (1 mg/kg/day) and acenocoumarol were started. Clinical improvement ensued. At follow-up the patient is well. The association of DRESS with TMA is a rare condition; we believe that the presence of the underlying Noonan syndrome could have been the trigger. Moreover, we speculate about the potential interrelations between these entities.

A Unique Case of Classic Kaposi's sarcoma restricted to the toes.

PubMed

Renteria, Anne S; Marshall, Vickie A; Sun, Yanyu; Chockalingam, Porselvi; Cooper, Jay S; Huang, Yiwu; Whitby, Denise

2013-01-01

Kaposi's sarcoma associated-herpesvirus causes all forms of Kaposi's sarcoma, and six major subtypes have been described based on the amino acid sequences of the open reading frame K1. A 71-year-old man from China, HIV negative, presented with nodules on the dorsal aspect of his toes. Biopsy confirmed the diagnosis of Kaposi's sarcoma and virology studies of his blood and saliva confirmed the presence of Kaposi's sarcoma associated-herpesvirus infection. Viral genotyping was consistent with subtype C3. Intervention has been deferred as our patient has remained clinically asymptomatic and without evident growth of his lesions over a 2-year follow up. We herein report the first known case of Kaposi's sarcoma restricted to the toes caused by the viral subtype C3 in an HIV-negative patient from Harbin, China.

Severe hydramnios and preterm delivery in association with transient maternal diabetes insipidus.

PubMed

Weinberg, Lori E; Dinsmoor, Mara J; Silver, Richard K

2010-08-01

Diabetes insipidus is rare in pregnancy. It is characterized by hypoosmolar polyuria and may be central, nephrogenic, or transient in etiology; the latter is presumably related to excess placental vasopresinase production. In theory, fetal effects of this endocrine condition may include hydramnios secondary to fetal polyuria. A pregnant patient developed rapid-onset second-trimester hydramnios that prompted a thorough fetal and maternal evaluation. She ultimately was diagnosed with transient diabetes insipidus of pregnancy because of an abrupt change in her voiding pattern at 20 weeks of gestation, significant polydipsia, and laboratory studies that revealed a hypoosmolar polyuria with normal serum and urine electrolytes. Transient neonatal polyuria also was confirmed in association with this unique maternal endocrine syndrome. The most likely cause of hydramnios in this case is transient maternal diabetes insipidus of pregnancy from excessive secretion of placental vasopressinase resulting in fetal polyuria. In cases of hydramnios of unknown etiology, if a history of maternal polyuria is elicited and confirmed, diabetes insipidus of pregnancy may play a role in some cases.

‘Legal high’ associated Wallenberg syndrome

PubMed Central

Arora, Alok; Kumar, Anil; Raza, Muhammad Naeem

2013-01-01

‘Legal highs’ are substances of synthetic or natural origin having psychotropic properties. ‘Legal highs’ are often new and, in many cases, the actual chemical ingredients in a branded product can be changed without notifications and the risks are unpredictable. Acute recreational drug toxicity is a common reason for presentation to both hospital and prehospital medical services. It appears that, generally, the pattern of toxicity associated with ‘legal highs’ is broadly similar to that seen with classical stimulant recreational drugs such as cocaine, MDMA (3,4 methylenedioxy-N-methyl amphetamine) and amphetamine. Lack of clear literature pertaining to their chemical properties, pharmacology and toxicology makes an evaluation of their effects difficult. We describe a unique case in which consumption of such a substance led to hospital admission and a diagnosis of ‘lateral medullary stroke’ or ‘Wallenberg syndrome’. We believe that this is the first described case of a ‘legal high’ intake linked to a posterior circulation stroke. PMID:23709150

The Association of Congenital Urethral Duplication and Double Megalourethra

PubMed Central

Uçar, Murat; Karagözlü Akgül, Ahsen; Kılıç, Nizamettin; Balkan, Emin

2017-01-01

Background: Urethral duplication and megalourethra are rare urethral anomalies. However, the concomitance of urethral duplication and double megalourethra has not been reported previously. Case Report: A newborn was presented with penile swelling during voiding. Physical examination revealed a retractable foreskin and two external meatus of a double urethra. Retrograde urethrography demonstrated two complete megalourethras. Urethro-urethrostomy and urethroplasty were performed when the patient was 10 months old. The patient was followed up for one year without any urinary problems and has good cosmetics and urinary continence. Conclusion: The concomitance of these two rare anomalies and more importantly its surgical treatment makes this case report unique and valuable. PMID:29215339

Unusual Presentation of Spasm of Near Reflex Mimicking Large-Angle Acute Acquired Comitant Esotropia

PubMed Central

Shanker, Varshini; Nigam, Vishal

2015-01-01

Abstract We report the case of an 11-year-old boy who presented with sudden esotropia, binocular diplopia, and blurred vision. The patient was neurologically normal. He had a large, constant, comitant, alternating esotropia associated with minimal accommodative spasm. Ocular motility and pupillary reactions were normal. He was diagnosed to have spasm of the near reflex presenting as acute onset of esotropia. The esotropia was persistent despite treatment and eventually resolved with prolonged cycloplegic therapy. This unusual case illustrates that spasm of the near reflex can have unique and variable presentations. Spasm of the near reflex needs to be considered in the differential diagnosis of every case of acute, acquired, comitant esotropia. This is the first case of spasm of the near reflex where persistent esotropia is reported in the absence of any neurological disorder. PMID:27928354

An Interesting Case of Oral Inverted Ductal Papilloma.

PubMed

Berridge, Natasha; Kumar, Mahesh

2016-12-01

Ductal papillomas are rare benign papillary tumours of the minor salivary glands. Previously they have been classified into three subtypes: inverted ductal papilloma (IDP), sialadenoma papilliferum and intraductal papilloma. The oral inverted ductal papilloma is the least common of these lesions, with 48 cases reported to date in a search of the English-language literature. We describe an interesting case of oral IDP and highlight the pertinent clinical and histopathological features. Importantly, unlike the histologically similar inverted papilloma (IP) of the nose and paranasal sinuses, oral IDP is a completely benign lesion and is not associated with malignant change. Clinical relevance: This case report aims to raise awareness of the lesion, oral inverted ductal papilloma (IDP). We outline the clinical features and unique histopathology of oral IDP so that clinicians may correctly diagnose such a lesion and implement appropriate treatment.

Sinonasal phosphaturic mesenchymal tumor: Case report and systematic review

PubMed Central

Cain, Rachel B.; McCullough, Ann E.; Hoxworth, Joseph M.; Lal, Devyani

2014-01-01

We report a case of sinonasal phosphaturic mesenchymal tumor (PMT) and conduct a systematic review of the literature to highlight a unique paraneoplastic syndrome associated with PMT. We used English language publications from Medline and Cochrane databases (1970–2013) as data sources. A systematic review of the literature was conducted. All reported cases of head and neck PMTs were included. The presence or absence of the associated paraneoplastic syndrome was noted. We found 33 cases of PMT in the head and neck reported in the literature, 17 of which occurred in the sinonasal area. Approximately 5% of all PMTs are located in the head and neck. Just greater than half are concentrated in the sinonasal area, and the remaining involve various bony and soft tissue structures of the head and neck. PMT is sometimes associated with a paraneoplastic syndrome of tumor-induced (oncogenic) osteomalacia (TIO) causing bone pain, muscle weakness, and pathologic fractures. We present the 18th reported case of sinonasal PMT. A smooth mucosa-covered midline intraseptal mass filling the posterior nasal cavity with destruction and erosion of the skull base was found in an adult male. The patient underwent successful endoscopic resection with wide negative margins and is without recurrence at 24-month follow-up. PMT is a benign, locally aggressive tumor with rare malignant transformation. Knowledge of the bony invasion and destruction caused by this tumor is essential in planning surgical resection with wide negative margins. Familiarity with the associated TIO is essential to investigate for and manage any associated bony morbidity. PMID:25565053

Distinct Clinical and Epidemiological Features of Tuberculosis in New York City Caused by the RDRio Mycobacterium tuberculosis Sublineage

PubMed Central

Weisenberg, Scott A.; Gibson, Andrea L.; Huard, Richard C.; Kurepina, Natalia; Bang, Heejung; Lazzarini, Luiz C O.; Chiu, Yalin; Li, Jiehui; Ahuja, Shama; Driscoll, Jeff; Kreiswirth, Barry N.; Ho, John L.

2011-01-01

Background Genetic tracking of Mycobacterium tuberculosis is a cornerstone of tuberculosis (TB) control programs. The RDRio M. tuberculosis sublineage was previously associated with TB in Brazil. We investigated 3847 M. tuberculosis isolates and registry data from New York City (NYC) (2001–2005) to: 1) affirm the position of RDRio strains within the M. tuberculosis phylogenetic structure, 2) determine its prevalence, and 3) define transmission, demographic, and clinical characteristics associated with RDRio TB. Methods Isolates classified as RDRio or non-RDRio M. tuberculosis by multiplex PCR were further classified as clustered (≥2 isolates) or unique based primarily upon IS6110-RFLP patterns and lineage-specific cluster proportions were calculated. The secondary case rate of RDRio was compared with other prevalent M. tuberculosis lineages. Genotype data were merged with the data from the NYC TB Registry to assess demographic and clinical characteristics. Results RDRio strains were found to: 1) be restricted to the Latin American-Mediterranean family, 2) cause approximately 8% of TB cases in NYC, and 3) be associated with heightened transmission as shown by: i) a higher cluster proportion compared to other prevalent lineages, ii) a higher secondary case rate, and iii) cases in children. Furthermore, RDRio strains were significantly associated with US-born Black or Hispanic race, birth in Latin American and Caribbean countries, and isoniazid resistance. Conclusions The RDRio genotype is a single M. tuberculosis strain population that is emerging in NYC. The findings suggest that expanded RDRio case and exposure identification could be of benefit due to its association with heightened transmission. PMID:21835266

Transitioning home: comprehensive case management for America's heroes.

PubMed

Perla, Lisa Y; Jackson, Patricia D; Hopkins, Sherry L; Daggett, Margaret C; Van Horn, Linda J

2013-01-01

The conflicts in Afghanistan and Iraq, also known as Operation Enduring Freedom, Operation Iraqi Freedom, and Operation New Dawn, have created unique challenges for rehabilitation teams, including nurse and social work case managers. Active duty service members, National Guard and Reservists have deployed in large numbers and as many as 20% have been exposed to blast injury, which can result in polytrauma and traumatic brain injury, the "signature injury" of the war, as well as psychological trauma, and painful musculoskeletal injuries. In addition, there are also documented emotional injuries associated with the constant stress of war and the frequency of exposure to the graphic scenes of war. The Departments of Defense and Veterans Affairs work closely to provide comprehensive care coordination and case management for service members and veterans who have honorably served our country. This article describes the case management collaborative between Veterans Affairs and the Department of Defense that ensures service members and veterans receive their entitled healthcare services. The complex care needs of these returning service members require astute case management in addition to clinical care. This collaboration ensures the best life-long outcomes and will be discussed in detail in this article. © 2013 Association of Rehabilitation Nurses.

Strains of Mycobacterium tuberculosis transmitting infection in Brazilian households and those associated with community transmission of tuberculosis.

PubMed

Vinhas, Solange Alves; Jones-López, Edward C; Ribeiro Rodrigues, Rodrigo; Gaeddert, Mary; Peres, Renata Lyrio; Marques-Rodrigues, Patricia; de Aguiar, Paola Poloni Lobo; White, Laura Forsberg; Alland, David; Salgame, Padmini; Hom, David; Ellner, Jerrold J; Dietze, Reynaldo; Collins, Lauren F; Shashkina, Elena; Kreiswirth, Barry; Palaci, Moisés

2017-05-01

Molecular epidemiologic studies have shown that the dynamics of tuberculosis transmission varies geographically. We sought to determine which strains of Mycobacterium tuberculosis (MTB) were infecting household contacts (HHC), and which were causing clusters of tuberculosis (TB) disease in Vitoria-ES, Brazil. A total of 741 households contacts (445 TST +) and 139 index cases were characterized according to the proportion of contacts in each household that had a tuberculin skin test positive: low (LT) (≤40% TST+), high (HT) (≥70% TST+) and (40-70% TST+) intermediate (IT) transmission. IS6110-RFLP and spoligotyping analysis were performed only 139 MTB isolates from index cases and 841 community isolates. Clustering occurred in 45% of the entire study population. There was no statistically significant association between MTB household transmission category and clustering. Within the household study population, the proportion of clusters in HT and LT groups was similar (31% and 36%, respectively; p = 0.82). Among index cases isolates associated with households demonstrating TST conversion, the frequency of unique pattern genotypes was higher for index cases of the LT compared to HT households (p = 0.03). We concluded that clusters and lineages associated with MTB infection in HT households had no proclivity for increased transmission of TB in the community. Copyright © 2017 Elsevier Ltd. All rights reserved.

Quetiapine for insomnia associated with refractory depression exacerbated by phenelzine.

PubMed

Sokolski, Kenneth N; Brown, Brenda J

2006-03-01

To report the successful treatment of phenelzine-associated insomnia with low-dose quetiapine in a patient with refractory depression. A 42-year-old white man with severe major depression unresponsive to selective serotonin-reuptake inhibitors, bupropion, and tricyclic antidepressants improved following treatment with the monoamine oxidase inhibitor (MAOI) phenelzine. Insomnia, present to a moderate degree prior to antidepressant therapy, worsened markedly following phenelzine treatment and failed to respond to diphenhydramine, temazepam, triazolam, clonazepam, zolpidem, or trazodone given at high therapeutic doses. Sleep disturbance resolved with low-dose (50 mg) adjunctive quetiapine, with no adverse effects. Major depression refractory to standard therapy is a common and serious condition. Some cases respond to MAOIs; however, orthostatic hypotension and insomnia frequently occur. Potentially serious MAOI interactions with psychotropic drugs have raised concerns about combining these agents. In this case, a failure of a number of other medications known to treat MAOI-associated insomnia safely prompted a trial of quetiapine. Despite the possibility that enhanced serotonergic activity might have resulted in serotonin syndrome, no adverse interactions between phenelzine and quetiapine were noted. The use of low-dose, once-daily quetiapine, along with its unique binding properties, may account for its increased safety in combination with phenelzine. This case illustrates that low-dose quetiapine may be an alternative treatment for phenelzine-associated insomnia. Further case reports are needed to establish the safety and effectiveness of combining these agents.

Infrasellar pituitary gangliocytoma causing Cushing's syndrome.

PubMed

Domingue, Marie-Eve; Marbaix, Etienne; Do Rego, Jean-Luc; Col, Vincent; Raftopoulos, Christian; Duprez, Thierry; Vaudry, Hubert; Maiter, Dominique

2015-10-01

Pituitary gangliocytomas are uncommon neuronal tumours that may present with endocrine disorders, the most frequent being acromegaly caused by growth hormone hypersecretion. Cushing's syndrome is very rarely seen with gangliocytomas. We report the unique case of a 62 year-old woman whose clinical picture and endocrine testing clearly demonstrated adrenocorticotropin (ACTH)-dependent Cushing's syndrome. Pituitary magnetic resonance imaging showed a 12-mm homogeneous, infra- and retrosellar mass first diagnosed as pituitary macroadenoma. Transsphenoidal surgery was performed and allowed complete resection of the tumour with sparing of normal anterior pituitary. Very low postoperative serum cortisol and ACTH levels were observed in the early postoperative period and the patient is still in remission 18 months after surgery, thus demonstrating that the resected lesion was entirely responsible for the clinical picture. Histological and immunocytochemical analyses demonstrated a benign tumour composed of mature neuronal cells suggestive of a gangliocytoma, expressing both ACTH and corticotropin-releasing hormone (CRH). The tumour was surrounded by a rim of pituitary tissue containing ACTH-producing endocrine cells. Careful analysis of the resected lesion did not reveal any pituitary microadenoma. We search literature for similar cases and retraced only nine cases of gangliocytomas associated with Cushing's syndrome. In most of them, the tumour was combined with either pituitary corticotroph adenoma or hyperplasia. Our case represents a unique case of an infrasellar pituitary gangliocytoma which was able to cause Cushing's syndrome by both direct ACTH production and CRH-induced stimulation of neighbour normal corticotroph cells.

Analysis of copy number variation in Alzheimer's disease in a cohort of clinically characterized and neuropathologically verified individuals.

PubMed

Swaminathan, Shanker; Huentelman, Matthew J; Corneveaux, Jason J; Myers, Amanda J; Faber, Kelley M; Foroud, Tatiana; Mayeux, Richard; Shen, Li; Kim, Sungeun; Turk, Mari; Hardy, John; Reiman, Eric M; Saykin, Andrew J

2012-01-01

Copy number variations (CNVs) are genomic regions that have added (duplications) or deleted (deletions) genetic material. They may overlap genes affecting their function and have been shown to be associated with disease. We previously investigated the role of CNVs in late-onset Alzheimer's disease (AD) and mild cognitive impairment using Alzheimer's Disease Neuroimaging Initiative (ADNI) and National Institute of Aging-Late Onset AD/National Cell Repository for AD (NIA-LOAD/NCRAD) Family Study participants, and identified a number of genes overlapped by CNV calls. To confirm the findings and identify other potential candidate regions, we analyzed array data from a unique cohort of 1617 Caucasian participants (1022 AD cases and 595 controls) who were clinically characterized and whose diagnosis was neuropathologically verified. All DNA samples were extracted from brain tissue. CNV calls were generated and subjected to quality control (QC). 728 cases and 438 controls who passed all QC measures were included in case/control association analyses including candidate gene and genome-wide approaches. Rates of deletions and duplications did not significantly differ between cases and controls. Case-control association identified a number of previously reported regions (CHRFAM7A, RELN and DOPEY2) as well as a new gene (HLA-DRA). Meta-analysis of CHRFAM7A indicated a significant association of the gene with AD and/or MCI risk (P = 0.006, odds ratio = 3.986 (95% confidence interval 1.490-10.667)). A novel APP gene duplication was observed in one case sample. Further investigation of the identified genes in independent and larger samples is warranted.

Outbreak of Pneumocystis Pneumonia in Renal and Liver Transplant Patients Caused by Genotypically Distinct Strains of Pneumocystis jirovecii1

PubMed Central

Rostved, Andreas A.; Sassi, Monica; Kurtzhals, Jørgen A. L.; Sørensen, Søren Schwartz; Rasmussen, Allan; Ross, Christian; Gogineni, Emile; Huber, Charles; Kutty, Geetha; Kovacs, Joseph A.; Helweg-Larsen, Jannik

2013-01-01

Background An outbreak of 29 cases of Pneumocystis jirovecii pneumonia (PCP) occurred among renal and liver transplant recipients (RTR and LTR) in the largest Danish transplantation centre between 2007 and 2010, when routine PCP prophylaxis was not used. Methods P. jirovecii isolates from 22 transplant-cases, 2 colonized RTRs and 19 Pneumocystis-control samples were genotyped by restriction fragment length polymorphism and multi-locus sequence typing analysis. Contact tracing were used to investigate transmission. Potential risk factors were compared between PCP cases and matched non-PCP transplant patients. Results Three unique Pneumocystis genotypes were shared among 19 of the RTRs, LTRs and a colonized RTR in 3 distinct clusters, two of which overlapped temporally. In contrast, Pneumocystis-control samples harbored a wide range of genotypes. Evidence of possible nosocomial transmission was observed. Among several potential risk factors, only CMV viremia was consistently associated with PCP (P = 0.03; P = 0.009). Mycophenolate mofetile was associated with PCP risk only in the RTR population (P = 0.04). Conclusion We identified three large groups infected with unique strains of Pneumocystis and provide evidence of an outbreak profile and nosocomial transmission. LTRs may be infected in PCP outbreaks simultaneously with RTRs and by the same strains, most likely by inter-human transmission. Patients are at risk several years after transplantation, but the risk is highest during the first 6 months post-transplantation. Since patients at risk cannot be identified clinically and outbreaks cannot be predicted, six months of PCP chemoprophylaxis should be considered for all renal and liver transplant recipients. PMID:23903011

Outbreak of pneumocystis pneumonia in renal and liver transplant patients caused by genotypically distinct strains of Pneumocystis jirovecii.

PubMed

Rostved, Andreas A; Sassi, Monica; Kurtzhals, Jørgen A L; Sørensen, Søren Schwartz; Rasmussen, Allan; Ross, Christian; Gogineni, Emile; Huber, Charles; Kutty, Geetha; Kovacs, Joseph A; Helweg-Larsen, Jannik

2013-11-15

An outbreak of 29 cases of Pneumocystis jirovecii pneumonia (PCP) occurred among renal and liver transplant recipients (RTR and LTR) in the largest Danish transplantation centre between 2007 and 2010, when routine PCP prophylaxis was not used. P. jirovecii isolates from 22 transplant cases, 2 colonized RTRs, and 19 Pneumocystis control samples were genotyped by restriction fragment length polymorphism and multilocus sequence typing analysis. Contact tracing was used to investigate transmission. Potential risk factors were compared between PCP cases and matched non-PCP transplant patients. Three unique Pneumocystis genotypes were shared among 19 of the RTRs, LTRs, and a colonized RTR in three distinct clusters, two of which overlapped temporally. In contrast, Pneumocystis control samples harbored a wide range of genotypes. Evidence of possible nosocomial transmission was observed. Among several potential risk factors, only cytomegalovirus viremia was consistently associated with PCP (P=0.03; P=0.009). Mycophenolate mofetil was associated with PCP risk only in the RTR population (P=0.04). We identified three large groups infected with unique strains of Pneumocystis and provide evidence of an outbreak profile and nosocomial transmission. LTRs may be infected in PCP outbreaks simultaneously with RTRs and by the same strains, most likely by interhuman transmission. Patients are at risk several years after transplantation, but the risk is highest during the first 6 months after transplantation. Because patients at risk cannot be identified clinically and outbreaks cannot be predicted, 6 months of PCP chemoprophylaxis should be considered for all RTRs and LTRs.

Extremal equilibria for reaction-diffusion equations in bounded domains and applications

NASA Astrophysics Data System (ADS)

Rodríguez-Bernal, Aníbal; Vidal-López, Alejandro

We show the existence of two special equilibria, the extremal ones, for a wide class of reaction-diffusion equations in bounded domains with several boundary conditions, including non-linear ones. They give bounds for the asymptotic dynamics and so for the attractor. Some results on the existence and/or uniqueness of positive solutions are also obtained. As a consequence, several well-known results on the existence and/or uniqueness of solutions for elliptic equations are revisited in a unified way obtaining, in addition, information on the dynamics of the associated parabolic problem. Finally, we ilustrate the use of the general results by applying them to the case of logistic equations. In fact, we obtain a detailed picture of the positive dynamics depending on the parameters appearing in the equation.

Patients as Patches: Ecology and Epidemiology in Healthcare Environments.

PubMed

Lofgren, Eric T; Egizi, Andrea M; Fefferman, Nina H

2016-12-01

The modern healthcare system involves complex interactions among microbes, patients, providers, and the built environment. It represents a unique and challenging setting for control of the emergence and spread of infectious diseases. We examine an extension of the perspectives and methods from ecology (and especially urban ecology) to address these unique issues, and we outline 3 examples: (1) viewing patients as individual microbial ecosystems; (2) the altered ecology of infectious diseases specifically within hospitals; and (3) ecosystem management perspectives for infection surveillance and control. In each of these cases, we explore the accuracy and relevance of analogies to existing urban ecological perspectives, and we demonstrate a few of the potential direct uses of this perspective for altering research into the control of healthcare-associated infections. Infect Control Hosp Epidemiol. 2016;1507-1512.

Segregation of anterior temporal regions critical for retrieving names of unique and nonunique entities reflects underlying long-range connectivity

PubMed Central

Mehta, Sonya; Inoue, Kayo; Rudrauf, David; Damasio, Hanna; Tranel, Daniel; Grabowski, Thomas

2015-01-01

Lesion-deficit studies support the hypothesis that the left anterior temporal lobe (ATL) plays a critical role in retrieving names of concrete entities. They further suggest that different regions of the left ATL process different conceptual categories. Here we test the specificity of these relationships and whether the anatomical segregation is related to the underlying organization of white matter connections. We reanalyzed data from a previous lesion study of naming and recognition across five categories of concrete entities. In voxelwise logistic regressions of lesion-deficit associations, we formally incorporated measures of disconnection of long-range association fiber tracts (FTs) and covaried for recognition and non-category specific naming deficits. We also performed fiber tractwise analyses to assess whether damage to specific FTs was preferentially associated with category-selective naming deficits. Damage to the basolateral ATL was associated with naming deficits for both unique (famous faces) and non-unique entities, whereas the damage to the temporal pole was associated with naming deficits for unique entities only. This segregation pattern remained after accounting for comorbid recognition deficits or naming deficits in other categories. The tractwise analyses showed that damage to the uncinate fasciculus was associated with naming impairments for unique entities, while damage to the inferior longitudinal fasciculus was associated with naming impairments for non-unique entities. Covarying for FT transection in voxelwise analyses rendered the cortical association for unique entities more focal. These results are consistent with the partial segregation of brain system support for name retrieval of unique and non-unique entities at both the level of cortical components and underlying white matter fiber bundles. Our study reconciles theoretic accounts of the functional organization of the left ATL by revealing both category-related processing and semantic hub sectors. PMID:26707082

[Multiple meningiomas].

PubMed

Terrier, L-M; François, P

2016-06-01

Multiple meningiomas (MMs) or meningiomatosis are defined by the presence of at least 2 lesions that appear simultaneously or not, at different intracranial locations, without the association of neurofibromatosis. They present 1-9 % of meningiomas with a female predominance. The occurrence of multiple meningiomas is not clear. There are 2 main hypotheses for their development, one that supports the independent evolution of these tumors and the other, completely opposite, that suggests the propagation of tumor cells of a unique clone transformation, through cerebrospinal fluid. NF2 gene mutation is an important intrinsic risk factor in the etiology of multiple meningiomas and some exogenous risk factors have been suspected but only ionizing radiation exposure has been proven. These tumors can grow anywhere in the skull but they are more frequently observed in supratentorial locations. Their histologic types are similar to unique meningiomas of psammomatous, fibroblastic, meningothelial or transitional type and in most cases are benign tumors. The prognosis of these tumors is eventually good and does not differ from the unique tumors except for the cases of radiation-induced multiple meningiomas, in the context of NF2 or when diagnosed in children where the outcome is less favorable. Each meningioma lesion should be dealt with individually and their multiple character should not justify their resection at all costs. Copyright © 2016 Elsevier Masson SAS. All rights reserved.

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

Schlichenmaier, M

Recently, Lax operator algebras appeared as a new class of higher genus current-type algebras. Introduced by Krichever and Sheinman, they were based on Krichever's theory of Lax operators on algebraic curves. These algebras are almost-graded Lie algebras of currents on Riemann surfaces with marked points (in-points, out-points and Tyurin points). In a previous joint article with Sheinman, the author classified the local cocycles and associated almost-graded central extensions in the case of one in-point and one out-point. It was shown that the almost-graded extension is essentially unique. In this article the general case of Lax operator algebras corresponding to several in- andmore » out-points is considered. As a first step they are shown to be almost-graded. The grading is given by splitting the marked points which are non-Tyurin points into in- and out-points. Next, classification results both for local and bounded cocycles are proved. The uniqueness theorem for almost-graded central extensions follows. To obtain this generalization additional techniques are needed which are presented in this article. Bibliography: 30 titles.« less

A unique case of spontaneous regression of metastatic papillary renal cell carcinoma: a case report

PubMed Central

Lim, Rebecca; Tan, Puay Hoon; Cheng, Christopher; Agasthian, Thirugnanam; Tan, Hwei Ling; Teh, Bin Tean

2009-01-01

Spontaneous regression of cancer is a rare, but well documented, phenomenon. We present a unique case of an 82 year old Chinese male who experienced spontaneous regression of histologically-verified metastatic type II papillary renal cell carcinoma in the absence of intervening systemic therapy or surgery. This is the first reported case of spontaneous regression of papillary renal cell carcinoma. The mechanism of spontaneous regression remains unknown, and represents a challenge for existing oncology paradigms. PMID:19918481

A Unique Case of Allogeneic Fat Grafting Between Brothers

PubMed Central

Kim, Samuel; Edelson, Richard L.; Sumpio, Brandon; Kwei, Stephanie

2016-01-01

Summary: We present a case of a 65-year-old man with cutaneous T-cell lymphoma treated with radiation therapy and an allogeneic hematopoietic stem cell transplant from his human leukocyte antigen-matched brother. Engraftment was successful, but the patient went on to develop painful, radiation-induced ulcers. The ulcers were fat-allografted using liposuctioned fat from his brother because of the patient’s unique chimeric state. Postprocedure follow-up revealed epithelialization of the ulcer sites and significant improvement in neuropathic pain. Our unique case study supports the use of fat grafting for its restorative purposes and for its ability to alleviate chronic neuropathic pain. Additionally, it appears that our case provides a basis of a general approach to the treatment of radiation-induced ulcers in chimeric patients with lymphoid malignancies. PMID:27757347

Arrhythmia as a cardiac manifestation in MELAS syndrome.

PubMed

Thomas, Tamara; Craigen, William J; Moore, Ryan; Czosek, Richard; Jefferies, John L

2015-09-01

A 44-year-old female with a diagnosis of mitochondrial myopathy, encephalopathy and stroke-like episodes (MELAS) syndrome had progressive left ventricular hypertrophy (LVH) on echocardiogram. A Holter monitor demonstrated episodes of non-sustained atrial tachycardia, a finding not been previously described in this population. This unique case of MELAS syndrome demonstrates the known associated cardiac manifestation of LVH and the new finding of atrial tachycardia which may represent the potential for subclinical arrhythmia in this population.

Are attributes of organizational performance in large health care organizations relevant in primary care practices?

PubMed

Orzano, A John; Tallia, Alfred F; Nutting, Paul A; Scott-Cawiezell, Jill; Crabtree, Benjamin F

2006-01-01

Are organizational attributes associated with better health outcomes in large health care organizations applicable to primary care practices? In comparative case studies of two community family practices, it was found that attributes of organizational performance identified in larger health care organizations must be tailored to their unique context of primary care. Further work is required to adapt or establish the significance of the attributes of management infrastructure and information mastery.

77 FR 35921 - Defense Federal Acquisition Regulation Supplement: Item Unique Identifier Update (DFARS Case 2011...

Federal Register 2010, 2011, 2012, 2013, 2014

2012-06-15

... DEPARTMENT OF DEFENSE Defense Acquisition Regulations System 48 CFR Parts 211, 212, 218, 246, 252 and Appendix F to Chapter 2 RIN 0750-AH64 Defense Federal Acquisition Regulation Supplement: Item Unique Identifier Update (DFARS Case 2011-D055) AGENCY: Defense Acquisition Regulations System...

Global Existence and Uniqueness of Weak and Regular Solutions of Shallow Shells with Thermal Effects

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

Menzala, G. Perla, E-mail: perla@lncc.br; Cezaro, F. Travessini De, E-mail: fabianacezaro@furg.br

2016-10-15

We study a dynamical thin shallow shell whose elastic deformations are described by a nonlinear system of Marguerre–Vlasov’s type under the presence of thermal effects. Our main result is the proof of a global existence and uniqueness of a weak solution in the case of clamped boundary conditions. Standard techniques for uniqueness do not work directly in this case. We overcame this difficulty using recent work due to Lasiecka (Appl Anal 4:1376–1422, 1998).

Bilateral wilms tumor with TP53-related anaplasia.

PubMed

Popov, Sergey D; Vujanic, Gordan M; Sebire, Neil J; Chagtai, Tasnim; Williams, Richard; Vaidya, Sucheta; Pritchard-Jones, Kathy

2013-01-01

Wilms tumor (WT) with diffuse anaplasia has an unfavorable prognosis and is often (>70%) associated with mutations in the TP53 gene. Although most WTs are unilateral, 5-10% are bilateral, and they are almost always present with nephrogenic rests. The latter are considered a precursor of WT. Two cases of bilateral WTs with nephroblastomatosis, in which anaplastic changes were detected over a period of time, were analyzed using clinical, radiological, histopathological, and molecular-genetic data. TP53 was analyzed by direct sequencing of its full coding sequence and intron-exon boundaries in 11 fragments. DNA was extracted from paraffin-embedded or frozen specimens. High-resolution genomic copy number profiling was carried out by UCL Genomics on the Affymetrix Human Mapping 250K Nsp or Genome-Wide Human SNP Array 6.0 platform. Both cases demonstrated a strong association between the appearance of anaplastic clones and TP53 mutations. Synchronous ganglioneuroma was diagnosed in one case. Our cases are unique as they represent a long disease history and demonstrate the difficulties in managing rare cases of bilateral WT with anaplasia. These cases also emphasize the practical importance of modern molecular-genetic techniques and their clinical application. Moreover, they highlight the issue of the adequate sampling needed in order to gather comprehensive, efficient, and sufficient information about genetic events in a single tumor.

Concordance Between Self-Reported Childhood Maltreatment Versus Case Record Reviews for Child Welfare-Affiliated Adolescents.

PubMed

Negriff, Sonya; Schneiderman, Janet U; Trickett, Penelope K

2017-02-01

The present study used data from an ongoing longitudinal study of the effects of maltreatment on adolescent development to (1) describe rates of maltreatment experiences obtained from retrospective self-report versus case record review for adolescents with child welfare-documented maltreatment histories, (2) examine self-reported versus child welfare-identified maltreatment in relation to mental health and risk behavior outcomes by maltreatment type, and (3) examine the association between the number of different types of maltreatment and mental health and risk behavior outcomes. Maltreatment was coded from case records using the Maltreatment Case Record Abstraction Instrument (MCRAI) and participants were asked at mean age = 18.49 about childhood maltreatment experiences using the Comprehensive Trauma Interview (CTI). Results showed that an average of 48% of maltreatment found by the MCRAI for each type of maltreatment were unique cases not captured by the CTI, whereas an average of 40% self-reported maltreatment (CTI) was not indicated by the MCRAI. Analyses with outcomes showed generally, self-reported maltreatment, regardless of concordance with MCRAI, was related to the poorest outcomes. The difference in associations with the outcomes indicates both self-report and case record review data may have utility depending on the outcomes being assessed.

Unique associations between young adult men's emotional functioning and their body dissatisfaction and disordered eating.

PubMed

Griffiths, Scott; Angus, Douglas; Murray, Stuart B; Touyz, Stephen

2014-03-01

Research on emotional functioning, body dissatisfaction, and disordered eating in males is predominated by studies of negative affect and emotion regulation. Other aspects of emotional functioning, namely emotion recognition and attentional biases toward emotional stimuli, have received little empirical attention. The present study investigated the unique associations between different aspects of men's emotional functioning and their disordered eating attitudes, muscularity dissatisfaction, and body fat dissatisfaction. Results from 132 male undergraduates showed that muscularity dissatisfaction was uniquely associated with both emotion regulation difficulties and an attentional bias toward rejecting faces. Body fat dissatisfaction was not uniquely associated with any aspect of emotional functioning. Disordered eating was uniquely associated with emotion regulation difficulties. Collectively, the results indicate differences in the patterns of associations between men's emotional functioning and their body dissatisfaction and disordered eating. Copyright © 2013 Elsevier Ltd. All rights reserved.

Episodic epileptic verbal auditory agnosia in Landau Kleffner syndrome treated with combination diazepam and corticosteroids.

PubMed

Devinsky, Orrin; Goldberg, Rina; Miles, Daniel; Bojko, Aviva; Riviello, James

2014-10-01

We report 2 pediatric patients who presented initially with seizures followed by subacute language regression characterized by a verbal auditory agnosia. These previously normal children had no evidence of expressive aphasia during their symptomatic periods. Further, in both cases, auditory agnosia was associated with sleep-activated electroencephalographic (EEG) epileptiform activity, consistent with Landau-Kleffner syndrome. However, both cases are unique since the episodic auditory agnosia and sleep-activated EEG epileptiform activity rapidly responded to combination therapy with pulse benzodiazepine and corticosteroids. Further, in each case, recurrences were characterized by similar symptoms, EEG findings, and beneficial responses to the pulse benzodiazepine and corticosteroid therapy. These observations suggest that pulse combination high-dose corticosteroid and benzodiazepine therapy may be especially effective in Landau-Kleffner syndrome. © The Author(s) 2014.

Erdheim-Chester Disease Involving the Central Nervous System with the Unique Appearance of a Coated Vertebral Artery.

PubMed

Suzuki, Hime; Wanibuchi, Masahiko; Komatsu, Katsuya; Akiyama, Yukinori; Mikami, Takeshi; Sugita, Shintaro; Hasegawa, Tadashi; Kaya, Mitsunori; Takada, Kohichi; Mikuni, Nobuhiro

2016-10-01

Erdheim-Chester disease (ECD) is a rare non-Langerhans cell histiocytosis. It is characterized by multiple xanthogranulomatous masses throughout the body, predominantly in the tibia. One of the characteristic radiological findings of the lesions associated with ECD is a "coated artery," which is often observed in the aorta. Although approximately one-fourth of ECD cases involve the central nervous system (CNS), an intracranial-coated artery has only been reported in four cases. We report a case of ECD that involves the CNS and has the unique appearance of a coated vertebral artery (VA). These tumors entirely encase the bilateral VAs without stenosis and are attached to the dura. Cranial magnetic resonance imaging also showed multiple extra-axial tumors in the cavernous sinus, the frontal convexity, and the orbital cavity. Further investigation revealed additional extracranial lesions around the cervical carotid artery, at the bilateral tibia, and at the elbow joint. A biopsy of the cervical and tibial lesions confirmed ECD. Steroid therapy resulted in a month-long improvement of preoperative symptoms. However, the patient's condition gradually progressed and he died of pneumonia 1 year after ECD diagnosis. The encasement of the intracranial artery by the tumor without stenosis and the dural attachment suggest ECD, which requires whole body investigation.

Erdheim-Chester Disease Involving the Central Nervous System with the Unique Appearance of a Coated Vertebral Artery

PubMed Central

Suzuki, Hime; Wanibuchi, Masahiko; Komatsu, Katsuya; Akiyama, Yukinori; Mikami, Takeshi; Sugita, Shintaro; Hasegawa, Tadashi; Kaya, Mitsunori; Takada, Kohichi; Mikuni, Nobuhiro

2016-01-01

Erdheim-Chester disease (ECD) is a rare non-Langerhans cell histiocytosis. It is characterized by multiple xanthogranulomatous masses throughout the body, predominantly in the tibia. One of the characteristic radiological findings of the lesions associated with ECD is a “coated artery,” which is often observed in the aorta. Although approximately one-fourth of ECD cases involve the central nervous system (CNS), an intracranial-coated artery has only been reported in four cases. We report a case of ECD that involves the CNS and has the unique appearance of a coated vertebral artery (VA). These tumors entirely encase the bilateral VAs without stenosis and are attached to the dura. Cranial magnetic resonance imaging also showed multiple extra-axial tumors in the cavernous sinus, the frontal convexity, and the orbital cavity. Further investigation revealed additional extracranial lesions around the cervical carotid artery, at the bilateral tibia, and at the elbow joint. A biopsy of the cervical and tibial lesions confirmed ECD. Steroid therapy resulted in a month-long improvement of preoperative symptoms. However, the patient’s condition gradually progressed and he died of pneumonia 1 year after ECD diagnosis. The encasement of the intracranial artery by the tumor without stenosis and the dural attachment suggest ECD, which requires whole body investigation. PMID:28664013

Segregation of anterior temporal regions critical for retrieving names of unique and non-unique entities reflects underlying long-range connectivity.

PubMed

Mehta, Sonya; Inoue, Kayo; Rudrauf, David; Damasio, Hanna; Tranel, Daniel; Grabowski, Thomas

2016-02-01

Lesion-deficit studies support the hypothesis that the left anterior temporal lobe (ATL) plays a critical role in retrieving names of concrete entities. They further suggest that different regions of the left ATL process different conceptual categories. Here we test the specificity of these relationships and whether the anatomical segregation is related to the underlying organization of white matter connections. We reanalyzed data from a previous lesion study of naming and recognition across five categories of concrete entities. In voxelwise logistic regressions of lesion-deficit associations, we formally incorporated measures of disconnection of long-range association fiber tracts (FTs) and covaried for recognition and non-category-specific naming deficits. We also performed fiber tractwise analyses to assess whether damage to specific FTs was preferentially associated with category-selective naming deficits. Damage to the basolateral ATL was associated with naming deficits for both unique (famous faces) and non-unique entities, whereas the damage to the temporal pole was associated with naming deficits for unique entities only. This segregation pattern remained after accounting for comorbid recognition deficits or naming deficits in other categories. The tractwise analyses showed that damage to the uncinate fasciculus (UNC) was associated with naming impairments for unique entities, while damage to the inferior longitudinal fasciculus (ILF) was associated with naming impairments for non-unique entities. Covarying for FT transection in voxelwise analyses rendered the cortical association for unique entities more focal. These results are consistent with the partial segregation of brain system support for name retrieval of unique and non-unique entities at both the level of cortical components and underlying white matter fiber bundles. Our study reconciles theoretic accounts of the functional organization of the left ATL by revealing both category-related processing and semantic hub sectors. Copyright © 2015 Elsevier Ltd. All rights reserved.

The Relations of Family Members’ Unique and Shared Perspectives of Family Dysfunction to Dyad Adjustment

PubMed Central

Jager, Justin; Yuen, Cynthia X.; Bornstein, Marc H.; Putnick, Diane L.; Hendricks, Charlene

2017-01-01

Among a community sample of families (N = 128), this study examined how family members’ shared and unique perspectives of family dysfunction relate to dyad members’ shared views of dyad adjustment within adolescent-mother, adolescent-father, and mother-father dyads. Independent of a family’s family perspective (shared perspective of family dysfunction), the adolescent’s unique perspective was associated with lower security and higher conflict with both mother and father, the father’s unique perspective was associated with lower security and higher conflict with the adolescent as well as lower marital quality with mother, and the mother unique perspective was associated with lower marital quality with the father. Moreover, for adolescent-parent dyads, compared to the parent unique perspective, the adolescent unique perspective was more strongly associated with dyad adjustment. These findings indicate that both shared and unique views of the family system – the adolescent’s unique view in particular - independently relate to the health of family subsystems. They also suggest that research as well as therapeutic interventions that focus on just the shared view of the family may miss important elements of family dysfunction. PMID:24884682

The relations of family members' unique and shared perspectives of family dysfunction to dyad adjustment.

PubMed

Jager, Justin; Yuen, Cynthia X; Bornstein, Marc H; Putnick, Diane L; Hendricks, Charlene

2014-06-01

Among a community sample of families (N = 128), this study examined how family members' shared and unique perspectives of family dysfunction relate to dyad members' shared views of dyad adjustment within adolescent-mother, adolescent-father, and mother-father dyads. Independent of a family's family perspective (shared perspective of family dysfunction), the adolescent's unique perspective was associated with lower security and higher conflict with both mother and father; the father's unique perspective was associated with lower security and higher conflict with the adolescent, as well as lower marital quality with mother; and the mother unique perspective was associated with lower marital quality with the father. Moreover, for adolescent-parent dyads, compared with the parent unique perspective, the adolescent unique perspective was more strongly associated with dyad adjustment. These findings indicate that both shared and unique views of the family system-the adolescent's unique view in particular-independently relate to the health of family subsystems. They also suggest that research, as well as therapeutic interventions, that focus on just the shared view of the family may miss important elements of family dysfunction. PsycINFO Database Record (c) 2014 APA, all rights reserved.

The structure of a bottlenose dolphin society is coupled to a unique foraging cooperation with artisanal fishermen.

PubMed

Daura-Jorge, F G; Cantor, M; Ingram, S N; Lusseau, D; Simões-Lopes, P C

2012-10-23

Diverse and localized foraging behaviours have been reported in isolated populations of many animal species around the world. In Laguna, southern Brazil, a subset of resident bottlenose dolphins (Tursiops truncatus) uses a foraging tactic involving cooperative interactions with local, beach-casting fishermen. We used individual photo-identification data to assess whether cooperative and non-cooperative dolphins were socially segregated. The social structure of the population was found to be a fission-fusion system with few non-random associations, typical for this species. However, association values were greater among cooperative dolphins than among non-cooperative dolphins or between dolphins from different foraging classes. Furthermore, the dolphin social network was divided into three modules, clustering individuals that shared or lacked the cooperative foraging tactic. Space-use patterns were not sufficient to explain this partitioning, indicating a behavioural factor. The segregation of dolphins using different foraging tactics could result from foraging behaviour driving social structure, while the closer association between dolphins engaged in the cooperation could facilitate the transmission and learning of this behavioural trait from conspecifics. This unique case of a dolphin-human interaction represents a valuable opportunity to explore hypotheses on the role of social learning in wild cetaceans.

EDUCATIONAL INEQUALITIES IN REPEAT ABORTION: A LONGITUDINAL REGISTER STUDY IN FINLAND 1975-2010.

PubMed

Väisänen, Heini

2016-11-01

The proportion of repeat abortions among all abortions has increased over the last decades in Finland. This study examined the association of education with the likelihood of repeat abortion, and the change in this association over time using reliable longitudinal data. A unique set of register data from three birth cohorts were followed from age 20 to 45, including about 22,000 cases of repeat abortion, and analysed using discrete-time event-history models. Low education was found to be associated with a higher likelihood of repeat abortion. Women with low education had abortions sooner after the preceding abortion, and were more often single, younger and had larger families at the time of abortion than more highly educated women. The educational differences were more significant for later than earlier cohorts. The results show a lack of appropriate contraceptive use, possibly due to lack of knowledge of, or access to, services. There is a need to improve access to family planning services, and contraceptives should be provided free of charge. Register data overcome the common problems of under-reporting of abortion and attrition ensuring the results are reliable, unique and of interest internationally.

Activity-dependent neuroprotective protein (ADNP): a case study for highly conserved chordata-specific genes shaping the brain and mutated in cancer.

PubMed

Gozes, Illana; Yeheskel, Adva; Pasmanik-Chor, Metsada

2015-01-01

The recent finding of activity-dependent neuroprotective protein (ADNP) as a protein decreased in serum of patients with Alzheimer's disease (AD) compared to controls, alongside with the discovery of ADNP mutations in autism and coupled with the original description of cancer mutations, ignited an interest for a comparative analysis of ADNP with other AD/autism/cancer-associated genes. We strive toward a better understanding of the molecular structure of key players in psychiatric/neurodegenerative diseases including autism, schizophrenia, and AD. This article includes data mining and bioinformatics analysis on the ADNP gene and protein, in addition to other related genes, with emphasis on recent literature. ADNP is discovered here as unique to chordata with specific autism mutations different from cancer-associated mutation. Furthermore, ADNP exhibits similarities to other cancer/autism-associated genes. We suggest that key genes, which shape and maintain our brain and are prone to mutations, are by in large unique to chordata. Furthermore, these brain-controlling genes, like ADNP, are linked to cell growth and differentiation, and under different stress conditions may mutate or exhibit expression changes leading to cancer propagation. Better understanding of these genes could lead to better therapeutics.

HLA-DR-, CD33+, CD56+, CD16- myeloid/natural killer cell acute leukemia: a previously unrecognized form of acute leukemia potentially misdiagnosed as French-American-British acute myeloid leukemia-M3.

PubMed

Scott, A A; Head, D R; Kopecky, K J; Appelbaum, F R; Theil, K S; Grever, M R; Chen, I M; Whittaker, M H; Griffith, B B; Licht, J D

1994-07-01

We have identified and characterized a previously unrecognized form of acute leukemia that shares features of both myeloid and natural killer (NK) cells. From a consecutive series of 350 cases of adult de novo acute myeloid leukemia (AML), we identified 20 cases (6%) with a unique immunophenotype: CD33+, CD56+, CD11a+, CD13lo, CD15lo, CD34+/-, HLA-DR-, CD16-. Multicolor flow cytometric assays confirmed the coexpression of myeloid (CD33, CD13, CD15) and NK cell-associated (CD56) antigens in each case, whereas reverse transcription polymerase chain reaction (RT-PCR) assays confirmed the identity of CD56 (neural cell adhesion molecule) in leukemic blasts. Although two cases expressed CD4, no case expressed CD2, CD3, or CD8 and no case showed clonal rearrangement of genes encoding the T-cell receptor (TCR beta, gamma, delta). Leukemic blasts in the majority of cases shared unique morphologic features (deeply invaginated nuclear membranes, scant cytoplasm with fine azurophilic granularity, and finely granular Sudan black B and myeloperoxidase cytochemical reactivity) that were remarkably similar to those of acute promyelocytic leukemia (APL); particularly the microgranular variant (FAB AML-M3v). However, all 20 cases lacked the t(15;17) and 17 cases tested lacked the promyelocytic/retinoic acid receptor alpha (RAR alpha) fusion transcript in RT-PCR assays; 12 cases had 46,XX or 46,XY karyotypes, whereas 2 cases had abnormalities of chromosome 17q: 1 with del(17)(q25) and the other with t(11;17)(q23;q21) and the promyelocytic leukemia zinc finger/RAR alpha fusion transcript. All cases tested (6/20), including the case with t(11;17), failed to differentiate in vitro in response to all-trans retinoic acid (ATRA), suggesting that these cases may account for some APLs that have not shown a clinical response to ATRA. Four of 6 cases tested showed functional NK cell-mediated cytotoxicity, suggesting a relationship between these unique CD33+, CD56+, CD16- acute leukemias and normal CD56+, CD16- NK precursor cells. Using a combination of panning and multiparameter flow cytometric sorting, we identified a normal CD56+, CD33+, CD16- counterpart cell at a frequency of 1% to 2% in the peripheral blood of healthy individuals. Our studies suggest that this form of acute leukemia may arise from transformation of a precursor cell common to both the myeloid and NK cell lineages; thus we propose the designation myeloid/NK acute leukemia. Recognition of this new leukemic entity will be important in distinguishing these ATRA-nonresponsive cases from ATRA-responsive true APL.

Prevalence of Legionella strains in cooling towers and legionellosis cases in New Zealand.

PubMed

Lau, Robert; Maqsood, Saadia; Harte, David; Caughley, Brian; Deacon, Rob

2013-01-01

Over 3,900 water samples from 688 cooling towers were tested for Legionella in 2008 in New Zealand. Of 80 (2.05% isolation rate) Legionella isolates, 10 (12.5%) were L. pneumophila serogroup 1; 10 (12.5%) were L. anisa; nine (11.2%) were L. pneumophila serogroup 8; and one (1.2%) was L. longbeachae serogroup 2. Forty-one (51.2%) Legionella isolates were L. pneumophila serogroups. Over 3,990 water samples from 606 cooling towers were tested for Legionella in 2009 in New Zealand. Of 51 (1.28% isolation rate) Legionella isolates, 18 (35.3%) were L. pneumophila serogroup 1, and 39 (76.4%) were other L. pneumophila serogroups. L. pneumophila serogroups were significantly associated with legionellosis cases in 2008 and 2009. L. longbeachae serogroups were equally significantly associated with legionellosis cases. This significant association of L. longbeachae with legionellosis particularly of L. longbeachae serogroup 1 is unique in that part of the world. The authors' study also showed that the aqueous environment of the cooling tower is not a natural habitat for pathogenic L. longbeachae. Regular monitoring and maintenance of cooling towers have prevented outbreaks of legionellosis.

Myelopathy associated with melorheostosis: a case report.

PubMed

Reznik, Mark; Fried, Guy W

2005-07-01

A man in his mid thirties presented with lower-extremity weakness and spasticity because of a myelopathy caused by a rare disorder of bone known as melorheostosis. The primary pathology involved was compression of the cord at the cervicothoracic levels by dystrophic osseous formation within the vertebral bodies. Based on a review of existing literature, it was evident that the spine is an uncommon location to find melorheostosis, making this disease entity a unique cause of myelopathy. The patient's progress was closely observed during his inpatient rehabilitation program, after he underwent spinal decompression surgery. Starting from the level of complete paralysis, he was able to regain functional strength in his legs by the end of his 2-month course. Despite the lack of reported outcomes in cases of myelopathy associated with melorheostosis, our report describes a favorable prognosis with good recovery of both strength and function.

Understanding and Managing Immune-Related Adverse Events Associated With Immune Checkpoint Inhibitors in Patients With Advanced Melanoma

PubMed Central

Weinstein, Alyona; Gordon, Ruth-Ann; Kasler, Mary Kate; Burke, Matthew; Ranjan, Smita; Hodgetts, Jackie; Reed, Vanessa; Shames, Yelena; Prempeh-Keteku, Nana; Lingard, Karla

2017-01-01

The immune checkpoint inhibitors ipilimumab, nivolumab, and pembrolizumab represent a substantial improvement in treating advanced melanoma but are associated with adverse events (AEs) likely related to general immunologic enhancement. To ensure that patients receive optimal benefit from these agents, prompt assessment and treatment of AEs are essential. We review the efficacy and safety profiles of these immune checkpoint inhibitors and describe guidelines for managing immune-related AEs. We also present case studies describing the management of toxicities in patients receiving immune checkpoint inhibitor therapy. These cases illustrate the importance of collecting a detailed medical history when administering immunotherapy, as this information is necessary to establish baseline, inform monitoring, and determine the etiology of symptoms. Advanced practice nurses and physician assistants are uniquely positioned to educate patients on the early recognition of AEs and have an important role in establishing appropriate monitoring and open dialogue among services. PMID:29900017

Electronic cigarette explosions involving the oral cavity.

PubMed

Harrison, Rebecca; Hicklin, David

2016-11-01

The use of electronic cigarettes (e-cigarettes) is a rapidly growing trend throughout the United States. E-cigarettes have been linked to the risk of causing explosion and fire. Data are limited on the associated health hazards of e-cigarette use, particularly long-term effects, and available information often presents conflicting conclusions. In addition, an e-cigarette explosion and fire can pose a unique treatment challenge to the dental care provider because the oral cavity may be affected heavily. In this particular case, the patient's injuries included intraoral burns, luxation injuries, and alveolar fractures. This case report aims to help clinicians gain an increased knowledge about e-cigarette design, use, and risks; discuss the risk of spontaneous failure and explosion of e-cigarettes with patients; and understand the treatment challenges posed by an e-cigarette explosion. Copyright © 2016 American Dental Association. Published by Elsevier Inc. All rights reserved.

Severe Acute Cardiopulmonary Failure Related to Gadobutrol Magnetic Resonance Imaging Contrast Reaction: Successful Resuscitation With Extracorporeal Membrane Oxygenation.

PubMed

Guru, Pramod K; Bohman, J Kyle; Fleming, Chad J; Tan, Hon L; Sanghavi, Devang K; De Moraes, Alice Gallo; Barsness, Gregory W; Wittwer, Erica D; King, Bernard F; Arteaga, Grace M; Flick, Randall; Schears, Gregory J

2016-03-01

Nonanaphylactic noncardiogenic pulmonary edema leading to cardiorespiratory arrest related to the magnetic resonance imaging contrast agent gadobutrol has rarely been reported in the literature. Rarer is the association of hypokalemia with acidosis. We report 2 patients who had severe pulmonary edema associated with the use of gadobutrol contrast in the absence of other inciting agents or events. These cases were unique not only for their rare and severe presentations but also because they exemplified the increasing role of extracorporeal membrane oxygenation in resuscitation. Emergency extracorporeal membrane oxygenation resuscitation can be rapidly initiated and successful in the setting of a well-organized workflow, and it is a viable alternative and helps improve patient outcome in cases refractory to conventional resuscitative measures. Copyright © 2016 Mayo Foundation for Medical Education and Research. Published by Elsevier Inc. All rights reserved.

Rituximab associated neutropenia: Description of three cases and an insight into the underlying pathogenesis

PubMed Central

Weissmann-Brenner, Alina; Brenner, Baruch; Belyaeva, Inessa; Lahav, Meir; Rabizadeh, Esther

2011-01-01

Summary Background To describe Rituximab associated neutropenia (RAN), and to explore its underlying mechanism. Case Report We describe three patients with RAN. The effect of patient’s plasma on colony forming unit, Granulocyte-Monocyte (CFU-GM) was measured by the addition of plasma to the culture of a healthy bone-marrow. Repeated tests were performed after recovery of white count. In the leukopenic period the patient’s plasma inhibited CFU growth completely. Control plasma did not have such an effect. Addition of patient’s cell supernatant to bone marrow cells did not change the number of CFU. The same effect was demonstrated in normal control. After recovery the patient’s plasma did not inhibit colony formation, similar to control. Conclusions RAN is a clinically significant side effect. It may take place during treatment or several months afterwards. Circulating antibodies in the plasma may be responsible for this unique BM toxicity. PMID:22037749

Social marketing's unique contribution to mental health stigma reduction and HIV testing: two case studies.

PubMed

Thackeray, Rosemary; Keller, Heidi; Heilbronner, Jennifer Messenger; Dellinger, Laura K Lee

2011-03-01

Since its inception in 2005, articles in Health Promotion Practice's social marketing department have focused on describing social marketing's unique contributions and the application of each to the practice of health promotion. This article provides a brief review of six unique features (marketing mix, consumer orientation, segmentation, exchange, competition, and continuous monitoring) and then presents two case studies-one on reducing stigma related to mental health and the other a large-scale campaign focused on increasing HIV testing among African American youth. The two successful case studies show that social marketing principles can be applied to a wide variety of topics among various population groups.

Approaches to advancescientific understanding of macrosystems ecology

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

Levy, Ofir; Ball, Becky; Bond-Lamberty, Benjamin

Macrosystem ecological studies inherently investigate processes that interact across multiple spatial and temporal scales, requiring intensive sampling and massive amounts of data from diverse sources to incorporate complex cross-scale and hierarchical interactions. Inherent challenges associated with these characteristics include high computational demands, data standardization and assimilation, identification of important processes and scales without prior knowledge, and the need for large, cross-disciplinary research teams that conduct long-term studies. Therefore, macrosystem ecology studies must utilize a unique set of approaches that are capable of encompassing these methodological characteristics and associated challenges. Several case studies demonstrate innovative methods used in current macrosystem ecologymore » studies.« less

A Border Context of Violence: Mexican Female Sex Workers on the U.S.–Mexico Border

PubMed Central

Cepeda, Alice; Nowotny, Kathryn M.

2018-01-01

Female sex workers (FSW) represent a population confronted with an array of intersecting social problems. We explore the case of FSW in Nuevo Laredo and Ciudad Juarez to understand the everyday violence associated with sex work within the unique context of Mexico. Life history interviews were conducted with 109 FSW revealing violent acts by clients and other sex industry employees (bar owners, police, other FSW). The risk of violence by different types of persons associated with the sex work industry varied by venue and geographic area. Moreover, the violence was shaped by the social structural constraints of dominant gender ideologies. PMID:25409891

Multifocal multi-site Warthin tumour.

PubMed

Hilton, Jennifer M; Phillips, John S; Hellquist, Henrik B; Premachandra, Don J

2008-12-01

The unique case of a 55-year-old man with multifocal adenolymphoma (Warthin's tumour) of both parotid glands, the neck and post-nasal space is presented. Warthin tumour is almost exclusively a parotid tumour but is known to be bilateral in 7-10% of cases and multifocal in 2% of cases. Most extraglandular Warthin tumours have been located in neck lymph nodes and only a few cases have been reported from other sites. The presented case is unique in having synchronous and metachronous Warthin tumours, as well as one of the tumours being neither truly parotid, nor within a lymph node.

Refractory sciatica could be a sign of malignancy: A unique case presentation.

PubMed

Arunachalam, Karuppiah

2016-01-04

t Renal cell carcinoma is one of the highly aggressive tumors and notorious for late presentations. It is associated with high morbidity and mortality. Renal cell carcinoma is known for rare metastatic sites. In clinical practice, it is often important not to anchor to a particular diagnosis but rather revisit and revaluate entire history and clinical examination. We describe a case of metastatic renal cell carcinoma that was initially treated as sciatica and later found to have advanced debilitating malignancy. Internal medicine physicians should be able to recognize one of the rare metastatic sites of renal cell carcinoma and understand the importance of imaging studies if patient has persisting sciatica symptoms without improvement.

Premenarchal, recurrent vaginal discharge associated with an incomplete obstructing longitudinal vaginal septum.

PubMed

Hansen, Keith A; DeWitt, Jason

2005-12-01

To describe an unusual, premenarchal presentation of an obstructive vaginal anomaly. Case Report. University Medical Center. Premenarchal subject Vaginogram, vaginal septum resection. Vaginal septum resection with resolution of vaginal discharge. This case demonstrates some of the typical features of uterus didelphys bicollis with incomplete obstructing hemivagina, but had a unique presentation with premenarchal, recurrent vaginal discharge. Typically, patients with an obstructing mullerian anomaly present after menarche with pelvic pain and a mass. The vaginogram assists in the preoperative definition of abnormal anatomy which allows the surgeon to develop the most appropriate surgical approach. Resection of this incompletely obstructing vaginal septum resulted in resolution of the recurrent vaginal discharge.

Isolated rhomboencephalosynapsis - a rare cerebellar anomaly.

PubMed

Paprocka, Justyna; Jamroz, Ewa; Scieszka, Ewa; Kluczewska, Ewa

2012-01-01

Rhomboencephalosynapsis (RES, RS) is a unique entity usually recognized in infancy based on neuroimaging. Cerebellar fusion and absence of cerebellar vermis is often associated with supratentorial findings. Since now there are about 50 cases described worldwide, with approximately 36 patients diagnosed by MRI. The authors present the first in Poland case of this uncommon malformation and review the literature. The authors describe a 28-month-old-girl with microcephaly and proper psychomotor development. The family history was unrelevant. Based on MRI the congenital malformation of posterior fossa-rhombencephalosynapsis was confirmed Presented patient is a typical example of MRI usefulness especially in patients with RES. RES symptoms are mild and that is why the diagnosis is usually made only in adulthood.

Bilateral parotid gland enlargement and palpable nephromegaly in infant acute lymphoblastic leukemia: case report and review of the literature.

PubMed

Saha, Aniket; Dandekar, Smita; Milla, Sarah; Roman, Elizabeth; Bhatla, Teena

2014-04-01

Acute lymphoblastic leukemia (ALL) in infants below 1 year of age accounts for 2.5% to 5% of childhood ALL. Most children with ALL present with fever, bruising, mucosal bleeding, bone pain, pallor, hepatosplenomegaly, and lymphadenopathy. Common sites of extramedullary involvement at diagnosis include liver, spleen, lymph nodes, brain, and testes. Nephromegaly has also been reported. We present a novel case of bilateral parotid enlargement along with bilateral palpable nephromegaly in a patient with newly diagnosed infant ALL. This unique presentation highlights the importance of considering ALL in the differential diagnosis of parotid enlargement especially when associated with abnormal blood counts.

Unique role of ionic liquid [bmin][BF 4] during curcumin-surfactant association and micellization of cationic, anionic and non-ionic surfactant solutions

NASA Astrophysics Data System (ADS)

Patra, Digambara; Barakat, Christelle

2011-09-01

Hydrophilic ionic liquid, 1-butyl-3-methylimidazolium tetrafluoroburate, modified the properties of aqueous surfactant solutions associated with curcumin. Because of potential pharmaceutical applications as an antioxidant, anti-inflammatory and anti-carcinogenic agent, curcumin has received ample attention as potential drug. The interaction of curcumin with various charged aqueous surfactant solutions showed it exists in deprotonated enol form in surfactant solutions. The nitro and hydroxyl groups of o-nitrophenol interact with the carbonyl and hydroxyl groups of the enol form of curcumin by forming ground state complex through hydrogen bonds and offered interesting information about the nature of the interactions between the aqueous surfactant solutions and curcumin depending on charge of head group of the surfactant. IL[bmin][BF 4] encouraged early formation of micelle in case of cationic and anionic aqueous surfactant solutions, but slightly prolonged micelle formation in the case of neutral aqueous surfactant solution. However, for curcumin IL [bmin][BF 4] favored strong association (7-fold increase) with neutral surfactant solution, marginally supported association with anionic surfactant solution and discouraged (˜2-fold decrease) association with cationic surfactant solution.

Epstein-Barr virus-associated T-cell lymphoproliferative disorder affecting skin and lung in an elderly patient.

PubMed

Hoshino, Tomomi; Tatsuno, Kazuki; Shimauchi, Takatoshi; Okada, Satoko; Ito, Taisuke; Ono, Takaaki; Ohshima, Koichi; Tokura, Yoshiki

2014-09-01

A 70-year-old man presented with papular skin lesions and was diagnosed with Epstein-Barr virus (EBV)-associated T-cell lymphoproliferative disorder (T-LPD). The patient showed infiltration of a large number of EBV-encoded RNA-positive T cells in the skin and lung, presence of EBV load in the peripheral blood, and expansion of clonal EBV-infected γδ T cells and CD8(+) T cells in the blood and skin, as assessed by EBV-terminal repeat Southern blot, T-cell receptor polymerase chain reaction and flow cytometric analyses. In the Japanese or East Asian fatal cases of EBV-associated T/natural killer (NK)-LPD, there are two peaks in age at death, approximately 20 years and 60 years. The former age group is associated with chronic active EBV infection (CAEBV), and the latter group typically suffers from extranodal NK/T-cell lymphoma. Our case is characterized not only by the unique skin and lung manifestations but also the late onset age of the disease, indicating that the skin manifestation of CAEBV can be seen even in elderly patients. © 2014 Japanese Dermatological Association.

Basal cell carcinomas in a tertiary referral centre: a systematic analysis.

PubMed

Dreier, J; Cheng, P F; Bogdan Alleman, I; Gugger, A; Hafner, J; Tschopp, A; Goldinger, S M; Levesque, M P; Dummer, R

2014-11-01

Basal cell carcinoma (BCC) is the most frequent skin cancer with increasing incidence and generally high cure rates. BCC can be quite aggressive and is difficult to treat. To investigate BCCs with a focus on histological subtypes, treatment procedures and correlation to clinical progress to collect further information on complex BCC cases. In this retrospective single-centre analysis the dermatopathology database, a network of cooperating dermatological surgeons, was queried for BCC cases between January 2007 and December 2011. Of 14,423 samples from a total of 9652 patients initially identified, 2938 patients were treated at the University Hospital Zurich and had corresponding local electronic patient records. Patients (n = 2938) (with 4769 diagnoses, 2006 re-excisions with 1180 microscopically controlled surgeries) were classified based on severity estimations into 2240 simple, 640 moderate, and 58 severe cases, including one BCC-treatment-associated death and 11 patients with subsequent participation in a clinical trial. In moderate and severe cases (n = 698), there were significantly higher rates of unique histological diagnoses (n = 2·5; P < 0·0001), higher association with basosquamous carcinoma [odds ratio (OR) 3·6; P < 0·0001] and sclerosing BCC (OR 2·48; P < 0·0001). Of the patients with basosquamous carcinoma 82·6% had a previous history of BCC. This is the first study that analyses the frequency of complicated BCCs in a tertiary referral centre. There were 6·6% moderate (640 of 9652) and 0·6% (58 of 9652) severe cases. We found significantly more varying histological diagnoses and significant association with aggressive subtypes in moderate and severe cases. These patients might especially benefit from new therapeutic options. © 2014 British Association of Dermatologists.

Anteverted internal auditory canal as an inner ear anomaly in patients with craniofacial microsomia.

PubMed

L'Heureux-Lebeau, Bénédicte; Saliba, Issam

2014-09-01

Craniofacial microsomia involves structure of the first and second branchial arches. A wide range of ear anomalies, affecting external, middle and inner ear, has been described in association with this condition. We report three cases of anteverted internal auditory canal in patients presenting craniofacial microsomia. This unique internal auditory canal orientation was found on high-resolution computed tomography of the temporal bones. This internal auditory canal anomaly is yet unreported in craniofacial anomalies. Copyright © 2014. Published by Elsevier Ireland Ltd.

Maternal Pseudo-Bartter Syndrome Associated with Severe Perinatal Brain Injury.

PubMed

Vora, Shrenik; Ibrahim, Thowfique; Rajadurai, Victor Samuel

2017-09-15

Maternal electrolyte imbalance is rarely reported as causative factor of severe perinatal brain injury. This case outlines a unique maternal and neonatal pseudo-Bartter syndrome presented with metabolic alkalosis and hypochloremia due to maternal severe vomiting. Neonatal MRI brain revealed extensive brain hemorrhages with porencephalic cysts. Subsequent investigation workup points towards maternal severe metabolic alkalosis as its cause. Careful medical attention should be paid to pregnant women with excessive vomiting to ensure a healthy outcome for both the mother and the baby.

Motives of Log Schemes

NASA Astrophysics Data System (ADS)

Howell, Nicholas L.

This thesis introduces two notions of motive associated to a log scheme. We introduce a category of log motives a la Voevodsky, and prove that the embedding of Voevodsky motives is an equivalence, in particular proving that any homotopy-invariant cohomology theory of schemes extends uniquely to log schemes. In the case of a log smooth degeneration, we give an explicit construction of the motivic Albanese of the degeneration, and show that the Hodge realization of this construction gives the Albanese of the limit Hodge structure.

No histologic evidence of foetal cardiotoxicity following exposure to maternal hydroxychloroquine.

PubMed

Friedman, Deborah; Lovig, Leif; Halushka, Marc; Clancy, Robert M; Izmirly, Peter M; Buyon, Jill P

2017-01-01

It is currently recommended that hydroxychloroquine (HCQ) be maintained during pregnancy in patients with systemic lupus erythematosus. Recent data suggest that this Toll-like receptor inhibitor may also reduce the recurrence rate of anti-SSA/Ro associated congenital heart block (CHB). This case report describes a unique situation in which a CHB-afflicted, HCQ-exposed pregnancy was electively terminated. The heart did not reveal any characteristic features of cardiotoxicity, providing further evidence supporting the safety of foetal exposure to HCQ.

Outbreak of hepatitis A associated with men who have sex with men (MSM), England, July 2016 to January 2017

PubMed Central

Beebeejaun, Kazim; Degala, Srilaxmi; Balogun, Koye; Simms, Ian; Woodhall, Sarah Charlotte; Heinsbroek, Ellen; Crook, Paul David; Kar-Purkayastha, Ishani; Treacy, Juli; Wedgwood, Kate; Jordan, Kate; Mandal, Sema; Ngui, Siew Lin; Edelstein, Michael

2017-01-01

Between July 2016 and January 2017, 37 confirmed cases of hepatitis A with two unique IA genotype strains primarily among men who have sex with men, were reported across eight areas in England and Northern Ireland. Epidemiological and laboratory investigations indicate that these strains may have been imported several times from Spain, with secondary sexual transmission in the United Kingdom. Local and national public health services are collaborating to control this ongoing outbreak. PMID:28183392

Restrictions of Non Associated Plastic Flow Laws Imposed by Thermodynamics and Uniqueness

DTIC Science & Technology

1986-05-20

which have been discussed by Kestin and Rice (1970). Valanis (1971c) and Nemat-Nasser (1975b). lie in the concepts of entropy and temperature. As a...to the concept of entropy. As an example. consider the case of a rigid heat conductor in thermal equilibrium. If heat is added to the conductor, the...entropy for such systems mathematically. Using the concept of partial integrability of Pfaffian forms, Valanis finds the temperature 0 = 0(j.eL) > 0 as

Rash, fever, and chills after intravenous fluorescein angiography.

PubMed

Johnson, R N; McDonald, H R; Schatz, H

1998-12-01

To report a previously unreported complication associated with intravenous injection of fluorescein dye. Case report. A 75-year-old man developed a unique complication after intravenous injection of fluorescein dye for angiography. Two hours after receiving an intravenous injection of fluorescein for angiography, the patient developed a fever, rash, and chills. Admission to a hospital and careful systemic evaluation determined that this reaction was a noninfectious allergic response to intravenous fluorescein dye injection. A delayed allergic response to intravenous fluorescein dye injection can occur.

Tendon 'turnover lengthening' technique.

PubMed

Cerovac, S; Miranda, B H

2013-11-01

Tendon defect reconstruction is amongst the most technically challenging areas in hand surgery. Tendon substance deficiency reconstruction techniques include lengthening, grafting, two-stage reconstruction and tendon transfers, however each is associated with unique challenges over and above direct repair. We describe a novel 'turnover lengthening' technique for hand tendons that has successfully been applied to the repair of several cases, including a case of attritional flexor and traumatic extensor tendon rupture in two presented patients where primary tenorrhaphy was not possible. In both cases a good post-operative outcome was achieved, as the patients were happy having returned back to normal activities of daily living such that they were discharged 12 weeks post-operatively. Our technique avoids the additional morbidity and complications associated with grafting, transfers and two stage reconstructions. It is quick, simple and reproducible for defects not exceeding 3-4 cm, provides a means of immediate one stage reconstruction, no secondary donor site morbidity and does not compromise salvage by tendon transfer and/or two-stage reconstruction in cases of failure. To our knowledge no such technique has been previously been described to reconstruct such hand tendon defects. Crown Copyright © 2013. Published by Elsevier Ltd. All rights reserved.

Molecular Analysis of an Outbreak of Lethal Postpartum Sepsis Caused by Streptococcus pyogenes

PubMed Central

Turner, Claire E.; Dryden, Matthew; Holden, Matthew T. G.; Davies, Frances J.; Lawrenson, Richard A.; Farzaneh, Leili; Bentley, Stephen D.; Efstratiou, Androulla

2013-01-01

Sepsis is now the leading direct cause of maternal death in the United Kingdom, and Streptococcus pyogenes is the leading pathogen. We combined conventional and genomic analyses to define the duration and scale of a lethal outbreak. Two postpartum deaths caused by S. pyogenes occurred within 24 h; one was characterized by bacteremia and shock and the other by hemorrhagic pneumonia. The women gave birth within minutes of each other in the same maternity unit 2 days earlier. Seven additional infections in health care and household contacts were subsequently detected and treated. All cluster-associated S. pyogenes isolates were genotype emm1 and were initially indistinguishable from other United Kingdom emm1 isolates. Sequencing of the virulence gene sic revealed that all outbreak isolates had the same unique sic type. Genome sequencing confirmed that the cluster was caused by a unique S. pyogenes clone. Transmission between patients occurred on a single day and was associated with casual contact only. A single isolate from one patient demonstrated a sequence change in sic consistent with longer infection duration. Transmission to health care workers was traced to single clinical contacts with index cases. The last case was detected 18 days after the first case. Following enhanced surveillance, the outbreak isolate was not detected again. Mutations in bacterial regulatory genes played no detectable role in this outbreak, illustrating the intrinsic ability of emm1 S. pyogenes to spread while retaining virulence. This fast-moving outbreak highlights the potential of S. pyogenes to cause a range of diseases in the puerperium with rapid transmission, underlining the importance of immediate recognition and response by clinical infection and occupational health teams. PMID:23616448

A unique case of Shwachman-Diamond syndrome presenting with congenital hypopituitarism.

PubMed

Jivani, Nurin; Torrado-Jule, Carmen; Vaiselbuh, Sarah; Romanos-Sirakis, Eleny

2016-11-01

Shwachman-Diamond syndrome (SDS) is an autosomal recessive bone marrow failure syndrome typically characterized by neutropenia and pancreatic dysfunction, although phenotypic presentations vary, and the endocrine phenotype is not well-described. We report a unique case of a patient with SDS who initially presented with hypoglycemia and micropenis in the newborn period and was diagnosed with congenital hypopituitarism. We are not aware of any other cases of SDS documented with this combination of complex endocrinopathies.

Urticaria Multiforme

PubMed Central

Bernardo, Sebastian G.; Kovalerchik, Olga; Ahmad, Moneeb

2013-01-01

Urticaria multiforme is a benign cutaneous hypersensitivity reaction seen in pediatric patients that is characterized by the acute and transient onset of blanchable, annular, polycyclic, erythematous wheals with dusky, ecchymotic centers in association with acral edema. It is most commonly misdiagnosed as erythema multiforme, a serum-sickness-like reaction, or urticarial vasculitis. Since these three diagnoses represent distinct clinical entities with unique prognoses and management strategies, it is important that physicians distinguish urticaria multiforme from its clinical mimics in order to optimize patient care. By performing a thorough history and physical examination, the astute clinician can make the correct diagnosis and develop an appropriate, effective treatment plan while avoiding unnecessary biopsies and laboratory evaluations. The authors report a case of urticaria multiforme in a four-year-old girl in order to emphasize the distinctive morphological manifestations of this rare, albeit unique, disease seen in the pediatric population. PMID:23556035

BK virus encephalopathy and sclerosing vasculopathy in a patient with hypohidrotic ectodermal dysplasia and immunodeficiency.

PubMed

Darbinyan, Armine; Major, Eugene O; Morgello, Susan; Holland, Steven; Ryschkewitsch, Caroline; Monaco, Maria Chiara; Naidich, Thomas P; Bederson, Joshua; Malaczynska, Joanna; Ye, Fei; Gordon, Ronald; Cunningham-Rundles, Charlotte; Fowkes, Mary; Tsankova, Nadejda M

2016-07-13

Human BK polyomavirus (BKV) is reactivated under conditions of immunosuppression leading most commonly to nephropathy or cystitis; its tropism for the brain is rare and poorly understood. We present a unique case of BKV-associated encephalopathy in a man with hypohidrotic ectodermal dysplasia and immunodeficiency (HED-ID) due to IKK-gamma (NEMO) mutation, who developed progressive neurological symptoms. Brain biopsy demonstrated polyomavirus infection of gray and white matter, with predominant involvement of cortex and distinct neuronal tropism, in addition to limited demyelination and oligodendroglial inclusions. Immunohistochemistry demonstrated polyoma T-antigen in neurons and glia, but expression of VP1 capsid protein only in glia. PCR analysis on both brain biopsy tissue and cerebrospinal fluid detected high levels of BKV DNA. Sequencing studies further identified novel BKV variant and disclosed unique rearrangements in the noncoding control region of the viral DNA (BKVN NCCR). Neuropathological analysis also demonstrated an unusual form of obliterative fibrosing vasculopathy in the subcortical white matter with abnormal lysosomal accumulations, possibly related to the patient's underlying ectodermal dysplasia. Our report provides the first neuropathological description of HED-ID due to NEMO mutation, and expands the diversity of neurological presentations of BKV infection in brain, underscoring the importance of its consideration in immunodeficient patients with unexplained encephalopathy. We also document novel BKVN NCCR rearrangements that may be associated with the unique neuronal tropism in this patient.

Clonal Spread of a Unique Strain of Macrolide-Resistant Mycoplasma Pneumoniae Within a Single Family in Italy.

PubMed

Chironna, Maria; Loconsole, Daniela; De Robertis, Anna Lisa; Morea, Anna; Scalini, Egidio; Quarto, Michele; Tafuri, Silvio; Germinario, Cinzia; Manzionna, Mariano

2016-03-01

Macrolide-resistant Mycoplasma pneumoniae (MR-MP) is an increasing problem worldwide. This study describes the clonal spread of a unique strain of MR-MP within a single family. On January 23, 2015, nasopharyngeal swabs and sputum samples were collected from the index case (a 9-year-old girl) in southern Italy. The patient had pneumonia and was initially treated with clarithromycin. MR-MP infection was suspected due to prolonged symptoms despite appropriate antibiotic therapy. Two further cases of pneumonia occurred in relatives (a 7-year-old cousin and the 36-year-old mother of the index case); therefore, respiratory samples were also collected from other family members. Sequence analysis identified mutations associated with resistance to macrolides. Both P1 major adhesion protein typing and multiple loci variable-number tandem repeat analysis (MLVA) typing were performed to assess the relatedness of the strains. The index case, the cousin, the mother, and another 4 family members (twin siblings of the index case, a 3-year-old cousin, and the grandmother) were positive for MR-MP. All strains harbored the mutation A2063G, had the same P1 subtype (1), and were MLVA (7/4/5/7/2) type Z. In addition, the index case's aunt (31 years of age and the probable source of infection) harbored an M pneumoniae strain with the same molecular profile; however, this strain was susceptible to macrolides. This cluster of MR-MP infection/carriage caused by a clonal strain suggests a high transmission rate within this family and highlights the need for increased awareness among clinicians regarding the circulation of MR-MP. Novel strategies for the treatment and prevention of M pneumoniae infections are required.

Tech-Prep in New York State: Profiles of Four Diverse Programs.

ERIC Educational Resources Information Center

Frenkel, Michael W.; Brodsky, Stanley M.

These case studies highlight the diversity of four tech programs that responded with a unique set of organizational policies and procedures to a unique set of challenges. The case study on City Tech Tech-Prep Consortium in Brooklyn focuses on three strategies: transition to City Tech program, postsecondary component, and program evaluation. The…

Tinea pedis presenting as asymmetric purpuric papules on the sole of the foot: a case report.

PubMed

Chen, Jennifer Yan Fei; Stroz, Marianne J; Adam, David N

2015-01-01

In this report we describe a unique case of tinea pedis. A 29-year-old man presented with a 3-day history of asymptomatic purpuric papules predominantly on his left foot. Potassium hydroxide preparation demonstrated fungal hyphae and culture yielded Trichophyton mentagrophytes. This patient presented unusually with purpuric papules, unlike the three commonly described types of tinea pedis. Given the morphology, positive potassium hydroxide slide preparation, T. mentagrophytes on fungal culture and clinical response to ketoconazole cream, we conclude that this represents a unique variant of tinea pedis. We recognize that even common dermatological diagnoses can have unique presentations, and it is important for clinicians to maintain a broad differential for new dermatologic cases.

Tinea Pedis Presenting as Asymmetric Purpuric Papules on the Sole of the Foot: A Case Report

PubMed Central

Chen, Jennifer Yan Fei; Stroz, Marianne J.; Adam, David N.

2015-01-01

In this report we describe a unique case of tinea pedis. A 29-year-old man presented with a 3-day history of asymptomatic purpuric papules predominantly on his left foot. Potassium hydroxide preparation demonstrated fungal hyphae and culture yielded Trichophyton mentagrophytes. This patient presented unusually with purpuric papules, unlike the three commonly described types of tinea pedis. Given the morphology, positive potassium hydroxide slide preparation, T. mentagrophytes on fungal culture and clinical response to ketoconazole cream, we conclude that this represents a unique variant of tinea pedis. We recognize that even common dermatological diagnoses can have unique presentations, and it is important for clinicians to maintain a broad differential for new dermatologic cases. PMID:25873874

"Corkscrew stenosis": defining and preventing a complication of percutaneous dilatational tracheostomy.

PubMed

Jacobs, Jordan V; Hill, David A; Petersen, Scott R; Bremner, Ross M; Sue, Richard D; Smith, Michael A

2013-03-01

The short-term safety of percutaneous dilatational tracheostomy has been widely demonstrated. However, less is known about their long-term complications. Through an illustrative case series, we present and define "corkscrew stenosis," a type of tracheal stenosis uniquely associated with percutaneous dilatational tracheostomy. Patients treated at our institution for tracheal stenosis after percutaneous dilatational tracheostomy were reviewed. Demographic data including gender, age, history of presentation, lesion morphology, imaging, and management was collected and evaluated. The pathology of the stenosis and the strategies for prevention are presented. From January, 2008 through December 2011, 11 patients had tracheal stenosis after percutaneous dilatational tracheostomy. The mean age was 54 ± 17 years and 55% were male. The stenotic lesions were characterized by a corkscrew morphology at the stoma site with a mean distance of 2.3 ± 0.8 cm from the vocal cords. Images of these lesions demonstrated disruption and fracture of the proximal tracheal cartilages and displacement of the anterior tracheal wall into the tracheal lumen. The majority of our patients required tracheal resection for definitive repair. We suggest that a unique form of tracheal stenosis can result from percutaneous dilatational tracheostomy. We observed corkscrew stenosis to be located proximally, associated with fractured tracheal rings, and morphologically appearing as interdigitation of these fractured rings. Recognizing corkscrew stenosis, its unique mechanism of formation, and technical means of prevention may be important in advancing the long-term safety of this procedure for critically ill patients who require prolonged ventilatory support. Copyright © 2013 The American Association for Thoracic Surgery. Published by Mosby, Inc. All rights reserved.

A case of the corpus callosum and alien hand syndrome from a discrete paracallosal lesion.

PubMed

Faber, Raymond; Azad, Alvi; Reinsvold, Richard

2010-08-01

Here we present a patient with an isolated paracallosal brain lesion who exhibited behavioral changes associated with the corpus callosum syndrome (CCS) including features of the alien hand syndrome (AHS). The CCS is also known as the split-brain syndrome, the syndrome of hemisphere disconnection, the syndrome of brain bisection and the syndrome of the cerebral commissures. Because most reported cases of CCS were caused by tumors which extended beyond the corpus callosum (CC) and did not always induce a complete disconnection, there was much controversy about the role of the CC and the existence of a specific CCS. Aside from surgically based cases, the full complement of the CCS is infrequently clinically encountered. The patient described has a classic CCS from natural causes. This case report is unique in exhibiting a complete CCS with AHS secondary to an ischemic event affecting the left pericallosal region. To our knowledge this is the first case report of such a combination.

Vaginismus and subfertility: case reports on the association observed in clinical practice.

PubMed

Ramli, M; Nora, Mz; Roszaman, R; Hatta, S

2012-01-01

To analyse the features of patients with vaginismus first presented to a gynaecologist for infertility before being referred for psychiatric evaluation and management. The case series aim to provide some insight on features and presentations of Asian women with vaginismus. Vaginismus is characterised by persistent or recurrent difficulties in vaginal penetration despite the woman's wish for coitus. Avoidance, phobia, anticipatory fear of pain and involuntary pelvic muscle contraction are the most common symptoms. We report a series of cases of Malaysian women who had been suffering from vaginismus and 'infertility'. All the cases had never been attended to medically and there were long delays in seeking intervention. There was no history of traumatic sexual experience or any major psychiatric illness in these patients. Majority of the patients had prominent symptoms of anxiety. The cases illustrate that it is important to rule out the possibility of vaginismus among patients with infertility. The former have unique psychological features which require psychological interventions.

Epstein-Barr virus-positive cytotoxic T-cell lymphoma followed by chronic active Epstein-Barr virus infection-associated T/NK-cell lymphoproliferative disorder: a case report.

PubMed

Kato, Seiichi; Miyata, Tomoko; Takata, Katsuyoshi; Shimada, Satoko; Ito, Yoshinori; Tomita, Akihiro; Elsayed, Ahmed Ali; Takahashi, Emiko; Asano, Naoko; Kinoshita, Tomohiro; Kimura, Hiroshi; Nakamura, Shigeo

2013-12-01

A 30-year-old female patient presented with intestinal Epstein-Barr virus (EBV)-positive cytotoxic T-cell lymphoma (EBV+ CTL), which was surgically resected. Fourteen years later, she returned to our hospital with hypersensitivity to mosquito bites and was diagnosed with chronic active EBV infection-associated T/NK-cell lymphoproliferative disorder (CAEBV/TNK-LPD). She developed systemic EBV+ CTL at age 47 years during the 2.5-year clinical course of CAEBV/TNK-LPD, despite multiagent chemotherapy and allogeneic stem cell transplantation. Afterward, she had a rapidly deteriorating clinical course and died at age 48 years. The immunophenotype of the EBV+ CTL was consistently a CD3, CD8, and cytotoxic molecule-positive type with the same clonality in polymerase chain reaction analysis of T-cell receptor-γ chain gene rearrangement. This is the first reported case of EBV+ CTL preceding the clinical presentation of CAEBV/TNK-LPD. The present case was unique in suggesting a close relationship between EBV+ CTL and chronic active EBV infection. © 2013.

Robot-assisted thoracoscopic lobectomy as treatment of a giant bulla.

PubMed

Roemers, Rosa; Patberg, Kornelis; van de Wauwer, Caroline; Nguyen, Tam; Shahin, Ghada

2017-05-18

A bulla is a marked enlarged space within the parenchyma of the lung. Bullae may cause dyspnea by compressing healthy lung parenchyma and can cause a pneumothorax. Also, bullae are associated with malignancy, therefore surgical bullectomy is indicated on preventive basis. This case is unique and therefore valuable because of the remarkable presentation, innovative treatment and the spectacular improvement of lung function and socio-economic performance of the patient. In this case report we describe the presentation, minimally invasive surgical treatment by means of a robot-assisted lobectomy and postoperative outcome of a young patient with a giant congenital bulla of the left upper lobe. In this case robot-assisted lobectomy has shown spectacular improvement of lung function and fast-track recovery with beneficial socio-economic performance in a young patient with a giant congenital bulla.

Concurrent Van der Woude syndrome and Turner syndrome: A case report.

PubMed

Los, Evan; Baines, Hayley; Guttmann-Bauman, Ines

2017-01-01

Most cases of Van der Woude syndrome are caused by a mutation to interferon regulatory factor 6 on chromosome 1. Turner syndrome is caused by complete or partial absence of the second sex chromosome in girls. We describe a unique case of the two syndromes occurring concurrently though apparently independently in a girl with Van der Woude syndrome diagnosed at birth and Turner syndrome at 14 years 9 months. Short stature was initially misattributed to Van der Woude syndrome and pituitary insufficiency associated with clefts before correctly diagnosing Turner syndrome. We discuss the prevalence of delayed diagnosis of Turner syndrome, the rarity of reports of concurrent autosomal chromosome mutation and sex chromosome deletion, as well as the need to consider the diagnosis of Turner syndrome in all girls with short stature regardless of prior medical history.

A custom correlation coefficient (CCC) approach for fast identification of multi-SNP association patterns in genome-wide SNPs data.

PubMed

Climer, Sharlee; Yang, Wei; de las Fuentes, Lisa; Dávila-Román, Victor G; Gu, C Charles

2014-11-01

Complex diseases are often associated with sets of multiple interacting genetic factors and possibly with unique sets of the genetic factors in different groups of individuals (genetic heterogeneity). We introduce a novel concept of custom correlation coefficient (CCC) between single nucleotide polymorphisms (SNPs) that address genetic heterogeneity by measuring subset correlations autonomously. It is used to develop a 3-step process to identify candidate multi-SNP patterns: (1) pairwise (SNP-SNP) correlations are computed using CCC; (2) clusters of so-correlated SNPs identified; and (3) frequencies of these clusters in disease cases and controls compared to identify disease-associated multi-SNP patterns. This method identified 42 candidate multi-SNP associations with hypertensive heart disease (HHD), among which one cluster of 22 SNPs (six genes) included 13 in SLC8A1 (aka NCX1, an essential component of cardiac excitation-contraction coupling) and another of 32 SNPs had 29 from a different segment of SLC8A1. While allele frequencies show little difference between cases and controls, the cluster of 22 associated alleles were found in 20% of controls but no cases and the other in 3% of controls but 20% of cases. These suggest that both protective and risk effects on HHD could be exerted by combinations of variants in different regions of SLC8A1, modified by variants from other genes. The results demonstrate that this new correlation metric identifies disease-associated multi-SNP patterns overlooked by commonly used correlation measures. Furthermore, computation time using CCC is a small fraction of that required by other methods, thereby enabling the analyses of large GWAS datasets. © 2014 WILEY PERIODICALS, INC.

A custom correlation coefficient (CCC) approach for fast identification of multi-SNP association patterns in genome-wide SNPs data

PubMed Central

Climer, Sharlee; Yang, Wei; de las Fuentes, Lisa; Dávila-Román, Victor G.; Gu, C. Charles

2014-01-01

Complex diseases are often associated with sets of multiple interacting genetic factors and possibly with unique sets of the genetic factors in different groups of individuals (genetic heterogeneity). We introduce a novel concept of Custom Correlation Coefficient (CCC) between single nucleotide polymorphisms (SNPs) that address genetic heterogeneity by measuring subset correlations autonomously. It is used to develop a 3-step process to identify candidate multi-SNP patterns: (1) pairwise (SNP-SNP) correlations are computed using CCC; (2) clusters of so-correlated SNPs identified; and (3) frequencies of these clusters in disease cases and controls compared to identify disease-associated multi-SNP patterns. This method identified 42 candidate multi-SNP associations with hypertensive heart disease (HHD), among which one cluster of 22 SNPs (6 genes) included 13 in SLC8A1 (aka NCX1, an essential component of cardiac excitation-contraction coupling) and another of 32 SNPs had 29 from a different segment of SLC8A1. While allele frequencies show little difference between cases and controls, the cluster of 22 associated alleles were found in 20% of controls but no cases and the other in 3% of controls but 20% of cases. These suggest that both protective and risk effects on HHD could be exerted by combinations of variants in different regions of SLC8A1, modified by variants from other genes. The results demonstrate that this new correlation metric identifies disease-associated multi-SNP patterns overlooked by commonly used correlation measures. Furthermore, computation time using CCC is a small fraction of that required by other methods, thereby enabling the analyses of large GWAS datasets. PMID:25168954

Wildland firefighter deaths in the United States: A comparison of existing surveillance systems

PubMed Central

Butler, Corey; Marsh, Suzanne; Domitrovich, Joseph W.; Helmkamp, Jim

2017-01-01

Wildland fire fighting is a high-risk occupation requiring considerable physical and psychological demands. Multiple agencies publish fatality summaries for wildland firefighters; however, the reported number and types vary. At least five different surveillance systems capture deaths, each with varying case definitions and case inclusion/exclusion criteria. Four are population-level systems and one is case-based. System differences create challenges to accurately characterize fatalities. Data within each of the five surveillance systems were examined to better understand the types of wildland firefighter data collected, to assess each system’s utility in characterizing wildland firefighter fatalities, and to determine each system’s potential to inform prevention strategies. To describe similarities and differences in how data were recorded and characterized, wildland fire deaths for three of the population-based systems were matched and individual fatalities across systems were compared. Between 2001 and 2012, 247 unique deaths were captured among the systems; 73% of these were captured in all three systems. Most common causes of death in all systems were associated with aviation, vehicles, medical events, and entrapments/burnovers. The data show that, although the three systems often report similar annual summary statistics, events captured in each system vary each year depending on the types of events that the system is designed to track, such as inclusion/exclusion of fatalities associated with the Hometown Heroes Survivor Benefits Act of 2003. The overarching and central goal of each system is to collect accurate and timely information to improve wildland firefighter safety and health. Each system is unique and has varying inclusion and exclusion criteria for capturing and tracking different subsets of wildland firefighter tasks and duties. Use of a common case definition and better descriptions and interpretations of the data and the results would help to more accurately characterize wildland firefighter traumatic injuries and illnesses, lessen the likelihood for misinterpretation of wildland firefighter fatality data, and assist with defining the true occupational injury burden within this high-risk population. PMID:27754819

The clinical and microbiological characteristics of enteric fever in Cambodia, 2008-2015

PubMed Central

Phe, Thong; Veng, Chhun H.; Lim, Kruy; Ieng, Sovann; Kham, Chun; Fawal, Nizar; Fabre, Laetitia; Le Hello, Simon; Vlieghe, Erika; Weill, François-Xavier; Jacobs, Jan; Peetermans, Willy E.

2017-01-01

Background Enteric fever remains a major public health problem in low resource settings and antibiotic resistance is increasing. In Asia, an increasing proportion of infections is caused by Salmonella enterica serovar Paratyphi A, which for a long time was assumed to cause a milder clinical syndrome compared to Salmonella enterica serovar Typhi. Methodology A retrospective chart review study was conducted of 254 unique cases of blood culture confirmed enteric fever who presented at a referral adult hospital in Phnom Penh, Cambodia between 2008 and 2015. Demographic, clinical and laboratory data were collected from clinical charts and antibiotic susceptibility testing was performed. Whole genome sequence analysis was performed on a subset of 121 isolates. Results One-hundred-and-ninety unique patients were diagnosed with Salmonella Paratyphi A and 64 with Salmonella Typhi. In the period 2008–2012, Salmonella Paratyphi A comprised 25.5% of 47 enteric fever cases compared to 86.0% of 207 cases during 2013–2015. Presenting symptoms were identical for both serovars but higher median leukocyte counts (6.8 x 109/L vs. 6.3 x 109/L; p = 0.035) and C-reactive protein (CRP) values (47.0 mg/L vs. 36 mg/L; p = 0.034) were observed for Salmonella Typhi infections. All but one of the Salmonella Typhi isolates belonged to haplotype H58 associated with multidrug resistance (MDR) (i.e. resistance to ampicillin, chloramphenicol and co-trimoxazole).;42.9% actually displayed MDR compared to none of the Salmonella Paratyphi A isolates. Decreased ciprofloxacin susceptibility (DCS) was observed in 96.9% (62/64) of Salmonella Typhi isolates versus 11.5% (21/183) of Salmonella Paratyphi A isolates (all but one from 2015). All isolates were susceptible to azithromycin and ceftriaxone. Conclusions In Phnom Penh, Cambodia, Salmonella Paratyphi A now causes the majority of enteric fever cases and decreased susceptibility against ciprofloxacin is increasing. Overall, Salmonella Typhi was significantly more associated with MDR and DCS compared to Salmonella Paratyphi A. PMID:28931025

Wildland firefighter deaths in the United States: A comparison of existing surveillance systems.

PubMed

Butler, Corey; Marsh, Suzanne; Domitrovich, Joseph W; Helmkamp, Jim

2017-04-01

Wildland fire fighting is a high-risk occupation requiring considerable physical and psychological demands. Multiple agencies publish fatality summaries for wildland firefighters; however, the reported number and types vary. At least five different surveillance systems capture deaths, each with varying case definitions and case inclusion/exclusion criteria. Four are population-level systems and one is case-based. System differences create challenges to accurately characterize fatalities. Data within each of the five surveillance systems were examined to better understand the types of wildland firefighter data collected, to assess each system's utility in characterizing wildland firefighter fatalities, and to determine each system's potential to inform prevention strategies. To describe similarities and differences in how data were recorded and characterized, wildland fire deaths for three of the population-based systems were matched and individual fatalities across systems were compared. Between 2001 and 2012, 247 unique deaths were captured among the systems; 73% of these were captured in all three systems. Most common causes of death in all systems were associated with aviation, vehicles, medical events, and entrapments/burnovers. The data show that, although the three systems often report similar annual summary statistics, events captured in each system vary each year depending on the types of events that the system is designed to track, such as inclusion/exclusion of fatalities associated with the Hometown Heroes Survivor Benefits Act of 2003. The overarching and central goal of each system is to collect accurate and timely information to improve wildland firefighter safety and health. Each system is unique and has varying inclusion and exclusion criteria for capturing and tracking different subsets of wildland firefighter tasks and duties. Use of a common case definition and better descriptions and interpretations of the data and the results would help to more accurately characterize wildland firefighter traumatic injuries and illnesses, lessen the likelihood for misinterpretation of wildland firefighter fatality data, and assist with defining the true occupational injury burden within this high-risk population.

Plasmid Characterization and Chromosome Analysis of Two netF+ Clostridium perfringens Isolates Associated with Foal and Canine Necrotizing Enteritis.

PubMed

Mehdizadeh Gohari, Iman; Kropinski, Andrew M; Weese, Scott J; Parreira, Valeria R; Whitehead, Ashley E; Boerlin, Patrick; Prescott, John F

2016-01-01

The recent discovery of a novel beta-pore-forming toxin, NetF, which is strongly associated with canine and foal necrotizing enteritis should improve our understanding of the role of type A Clostridium perfringens associated disease in these animals. The current study presents the complete genome sequence of two netF-positive strains, JFP55 and JFP838, which were recovered from cases of foal necrotizing enteritis and canine hemorrhagic gastroenteritis, respectively. Genome sequencing was done using Single Molecule, Real-Time (SMRT) technology-PacBio and Illumina Hiseq2000. The JFP55 and JFP838 genomes include a single 3.34 Mb and 3.53 Mb chromosome, respectively, and both genomes include five circular plasmids. Plasmid annotation revealed that three plasmids were shared by the two newly sequenced genomes, including a NetF/NetE toxins-encoding tcp-conjugative plasmid, a CPE/CPB2 toxins-encoding tcp-conjugative plasmid and a putative bacteriocin-encoding plasmid. The putative beta-pore-forming toxin genes, netF, netE and netG, were located in unique pathogenicity loci on tcp-conjugative plasmids. The C. perfringens JFP55 chromosome carries 2,825 protein-coding genes whereas the chromosome of JFP838 contains 3,014 protein-encoding genes. Comparison of these two chromosomes with three available reference C. perfringens chromosome sequences identified 48 (~247 kb) and 81 (~430 kb) regions unique to JFP55 and JFP838, respectively. Some of these divergent genomic regions in both chromosomes are phage- and plasmid-related segments. Sixteen of these unique chromosomal regions (~69 kb) were shared between the two isolates. Five of these shared regions formed a mosaic of plasmid-integrated segments, suggesting that these elements were acquired early in a clonal lineage of netF-positive C. perfringens strains. These results provide significant insight into the basis of canine and foal necrotizing enteritis and are the first to demonstrate that netF resides on a large and unique plasmid-encoded locus.

Identification of unique expression signatures and therapeutic targets in esophageal squamous cell carcinoma

PubMed Central

2012-01-01

Background Esophageal squamous cell carcinoma (ESCC), the predominant histological subtype of esophageal cancer, is characterized by high mortality. Previous work identified important mRNA expression differences between normal and tumor cells; however, to date there are limited ex vivo studies examining expression changes occurring during normal esophageal squamous cell differentiation versus those associated with tumorigenesis. In this study, we used a unique tissue microdissection strategy and microarrays to measure gene expression profiles associated with cell differentiation versus tumorigenesis in twelve cases of patient-matched normal basal squamous epithelial cells (NB), normal differentiated squamous epithelium (ND), and squamous cell cancer. Class comparison and pathway analysis were used to compare NB versus tumor in a search for unique therapeutic targets. Results As a first step towards this goal, gene expression profiles and pathways were evaluated. Overall, ND expression patterns were markedly different from NB and tumor; whereas, tumor and NB were more closely related. Tumor showed a general decrease in differentially expressed genes relative to NB as opposed to ND that exhibited the opposite trend. FSH and IgG networks were most highly dysregulated in normal differentiation and tumorigenesis, respectively. DNA repair pathways were generally elevated in NB and tumor relative to ND indicating involvement in both normal and pathological growth. PDGF signaling pathway and 12 individual genes unique to the tumor/NB comparison were identified as therapeutic targets, and 10 associated ESCC gene-drug pairs were identified. We further examined the protein expression level and the distribution patterns of four genes: ODC1, POSTN, ASPA and IGF2BP3. Ultimately, three genes (ODC1, POSTN, ASPA) were verified to be dysregulated in the same pattern at both the mRNA and protein levels. Conclusions These data reveal insight into genes and molecular pathways mediating ESCC development and provide information potentially useful in designing novel therapeutic interventions for this tumor type. PMID:22280838

An ImmunoChip study of multiple sclerosis risk in African Americans

PubMed Central

Isobe, Noriko; Madireddy, Lohith; Khankhanian, Pouya; Matsushita, Takuya; Caillier, Stacy J.; Moré, Jayaji M.; Gourraud, Pierre-Antoine; McCauley, Jacob L.; Beecham, Ashley H.; Piccio, Laura; Herbert, Joseph; Khan, Omar; Cohen, Jeffrey; Stone, Lael; Santaniello, Adam; Cree, Bruce A. C.; Onengut-Gumuscu, Suna; Rich, Stephen S.; Hauser, Stephen L.; Sawcer, Stephen

2015-01-01

The aims of this study were: (i) to determine to what degree multiple sclerosis-associated loci discovered in European populations also influence susceptibility in African Americans; (ii) to assess the extent to which the unique linkage disequilibrium patterns in African Americans can contribute to localizing the functionally relevant regions or genes; and (iii) to search for novel African American multiple sclerosis-associated loci. Using the ImmunoChip custom array we genotyped 803 African American cases with multiple sclerosis and 1516 African American control subjects at 130 135 autosomal single nucleotide polymorphisms. We conducted association analysis with rigorous adjustments for population stratification and admixture. Of the 110 non-major histocompatibility complex multiple sclerosis-associated variants identified in Europeans, 96 passed stringent quality control in our African American data set and of these, >70% (69) showed over-representation of the same allele amongst cases, including 21 with nominally significant evidence for association (one-tailed test P < 0.05). At a further eight loci we found nominally significant association with an alternate correlated risk-tagging single nucleotide polymorphism from the same region. Outside the regions known to be associated in Europeans, we found seven potentially associated novel candidate multiple sclerosis variants (P < 10−4), one of which (rs2702180) also showed nominally significant evidence for association (one-tailed test P = 0.034) in an independent second cohort of 620 African American cases and 1565 control subjects. However, none of these novel associations reached genome-wide significance (combined P = 6.3 × 10−5). Our data demonstrate substantial overlap between African American and European multiple sclerosis variants, indicating common genetic contributions to multiple sclerosis risk. PMID:25818868

An ImmunoChip study of multiple sclerosis risk in African Americans.

PubMed

Isobe, Noriko; Madireddy, Lohith; Khankhanian, Pouya; Matsushita, Takuya; Caillier, Stacy J; Moré, Jayaji M; Gourraud, Pierre-Antoine; McCauley, Jacob L; Beecham, Ashley H; Piccio, Laura; Herbert, Joseph; Khan, Omar; Cohen, Jeffrey; Stone, Lael; Santaniello, Adam; Cree, Bruce A C; Onengut-Gumuscu, Suna; Rich, Stephen S; Hauser, Stephen L; Sawcer, Stephen; Oksenberg, Jorge R

2015-06-01

The aims of this study were: (i) to determine to what degree multiple sclerosis-associated loci discovered in European populations also influence susceptibility in African Americans; (ii) to assess the extent to which the unique linkage disequilibrium patterns in African Americans can contribute to localizing the functionally relevant regions or genes; and (iii) to search for novel African American multiple sclerosis-associated loci. Using the ImmunoChip custom array we genotyped 803 African American cases with multiple sclerosis and 1516 African American control subjects at 130 135 autosomal single nucleotide polymorphisms. We conducted association analysis with rigorous adjustments for population stratification and admixture. Of the 110 non-major histocompatibility complex multiple sclerosis-associated variants identified in Europeans, 96 passed stringent quality control in our African American data set and of these, >70% (69) showed over-representation of the same allele amongst cases, including 21 with nominally significant evidence for association (one-tailed test P < 0.05). At a further eight loci we found nominally significant association with an alternate correlated risk-tagging single nucleotide polymorphism from the same region. Outside the regions known to be associated in Europeans, we found seven potentially associated novel candidate multiple sclerosis variants (P < 10(-4)), one of which (rs2702180) also showed nominally significant evidence for association (one-tailed test P = 0.034) in an independent second cohort of 620 African American cases and 1565 control subjects. However, none of these novel associations reached genome-wide significance (combined P = 6.3 × 10(-5)). Our data demonstrate substantial overlap between African American and European multiple sclerosis variants, indicating common genetic contributions to multiple sclerosis risk. © The Author (2015). Published by Oxford University Press on behalf of the Guarantors of Brain. All rights reserved. For Permissions, please email: journals.permissions@oup.com.

MicroRNA profiling of human kidney cancer subtypes.

PubMed

Petillo, David; Kort, Eric J; Anema, John; Furge, Kyle A; Yang, Ximing J; Teh, Bin Tean

2009-07-01

Although the functions of most of the identified microRNAs (miRNAs) have yet to be determined, their use as potential biomarkers has been considered in several human diseases and cancers. In order to understand their role in renal tumorigenesis, we screened the expression levels of miRNAs in four subtypes of human renal neoplasms: clear cell, papillary, and chromophobe renal cell carcinomas (RCC) as well as benign renal oncocytomas. We found a unique miRNA signature for each subtype of renal tumor. Furthermore, we identified unique patterns of miRNA expression distinguishing clear cell RCC cases with favorable vs. unfavorable outcome. Specifically, we documented the overexpression of miRs 424 and 203 in clear cell RCC relative to papillary RCC, as well as the inversion of expression of miR-203 in the benign oncocytomas (where it is underexpressed relative to normal kidney) as compared to the malignant chromophobe RCC (where it is overexpressed relative to normal kidney). Our results further suggest that overexpression of S-has-miR-32 is associated with poor outcome. While previous studies have identified unique miRNA expression pattern distinguishing tumors from different anatomical locations, here we extend this principle to demonstrate the utility of miRNA expression profiling to identify a signature unique to various tumor subtypes at a single anatomic locus.

Double Uvula in a Fifty-Six-Year-Old Woman

PubMed Central

Catli, Tolgahan

2014-01-01

Introduction: Deformities of the uvula are considered as the dark area of otorhinolaryngology practice. This little and plain part of the human organism has various functions and its abnormalities might cause serious disabilities. Case Presentation: In our case report, we present a unique deformity of the uvula in a 56-year-old woman. Discussion: The aim of this report was to present a very rare condition, unique case “polyuvula”, and to review the literature regarding other uvula abnormalities. PMID:25763232

Under-reporting of pelvic inflammatory disease in Hawaii: a comparison of state surveillance and hospitalization data.

PubMed

Pacheco, Misty; Sentell, Tetine; Katz, Alan R

2014-04-01

Hawaii is one of only 19 states for which pelvic inflammatory disease (PID) is a mandated notifiable disease. In order to assess the completeness of PID reporting, we compared the number of hospitalized PID cases in the state of Hawaii with the total number of PID cases reported to the Hawaii State Department of Health surveillance system from 2007 through 2010. While 828 unique PID cases were diagnosed in Hawaii hospitals, only 240 unique PID cases were reported through the state's surveillance system. Severe PID underreporting was seen despite mandatory reporting laws.

A Case Study in Classroom Management and School Involvement: Designing an Art Room for Effective Learning

ERIC Educational Resources Information Center

Broome, Jeffrey L.

2013-01-01

The purpose of this research project is to investigate the design of classroom environments through the lens of a uniquely selected art educator. More specifically, the purpose is to use case study methodology (Stake, 1995) to characterize the resulting instructional experiences for an art educator who had the unique opportunity to collaborate…

Heroin Use Is Associated with AA-Type Kidney Amyloidosis in the Pacific Northwest.

PubMed

Sharma, Arjun; Govindan, Priyanka; Toukatly, Mirna; Healy, Jack; Henry, Connor; Senter, Steve; Najafian, Behzad; Kestenbaum, Bryan

2018-06-15

AA-type kidney amyloidosis is classically associated with chronic autoimmune or inflammatory disorders. However, some urban centers have reported a high prevalence of injection drug use among patients with kidney AA amyloidosis. Previous reports lack control groups to quantify associations and most predate the opioid epidemic in the United States. We conducted a case-control study of 38 patients with biopsy-confirmed kidney AA amyloidosis and 72 matched control individuals without this condition from two large hospital systems in Seattle, Washington. We ascertained the pattern and duration of heroin use by medical chart review and determined associations using logistic regression. Among case patients, 95% had a prior history of heroin use, 87% had skin abscesses, and 76% and 27% had evidence of muscling and skin popping, respectively. After adjustment for age, race, sex, site, and year of biopsy, any heroin use (past or current) was associated with an estimated 170-times higher risk of kidney AA amyloidosis compared with no heroin use (95% confidence interval, 28 to 1018 times higher; P <0.001). Chronic autoimmune disorders were uncommon among case patients in this study. The median time to ESKD among patients with AA amyloidosis was 2.4 years (interquartile range, 0.5-7.5 years). Injection heroin use is strongly associated with kidney AA amyloidosis in the Pacific Northwest. Unique aspects of heroin use, in particular geographic regions or frequent associated soft-tissue infections, may be an important cause of this progressive kidney disease. Copyright © 2018 by the American Society of Nephrology.

Identification of exopolysaccharides produced by fluorescent pseudomonads associated with commercial mushroom (Agaricus bisporus) production.

PubMed

Fett, W F; Wells, J M; Cescutti, P; Wijey, C

1995-02-01

The acidic exopolysaccharides (EPSs) from 63 strains of mushroom production-associated fluorescent pseudomonads which were mucoid on Pseudomonas agar F medium (PAF) were isolated, partially purified, and characterized. The strains were originally isolated from discolored lesion which developed postharvest on mushroom (Agaricus bisporus) caps or from commercial lots of mushroom casing medium. An acidic galactoglucan, previously named marginalan, was produced by mucoid strains of the saprophyte Pseudomonas putida and the majority of mucoid strains of saprophytic P. fluorescens (biovars III and V) isolated from casing medium. One biovar II strain (J1) of P. fluorescens produced alginate, a copolymer of mannuronic and guluronic acids, and one strain (H13) produced an apparently unique EPS containing neutral and amino sugars. Of 10 strains of the pathogen "P. gingeri," the causal agent of mushroom ginger blotch, 8 gave mucoid growth on PAF. The "P. gingeri" EPS also was unique in containing both neutral sugar and glucuronic acid. Mucoid, weakly virulent strains of "P. reactans" produced either alginate or marginalan. All 10 strains of the pathogen P. tolaasii, the causal agent of brown blotch of mushrooms were nonnmucoid on PAF. Production of EPS by these 10 strains plus the 2 nonmucoid strains of "P. gingeri" also was negative on several additional solid media as well as in two broth media tested. The results support our previous studies indicating that fluorescent pseudomonads are a rich source of novel EPSs.

Identification of exopolysaccharides produced by fluorescent pseudomonads associated with commercial mushroom (Agaricus bisporus) production.

PubMed Central

Fett, W F; Wells, J M; Cescutti, P; Wijey, C

1995-01-01

The acidic exopolysaccharides (EPSs) from 63 strains of mushroom production-associated fluorescent pseudomonads which were mucoid on Pseudomonas agar F medium (PAF) were isolated, partially purified, and characterized. The strains were originally isolated from discolored lesion which developed postharvest on mushroom (Agaricus bisporus) caps or from commercial lots of mushroom casing medium. An acidic galactoglucan, previously named marginalan, was produced by mucoid strains of the saprophyte Pseudomonas putida and the majority of mucoid strains of saprophytic P. fluorescens (biovars III and V) isolated from casing medium. One biovar II strain (J1) of P. fluorescens produced alginate, a copolymer of mannuronic and guluronic acids, and one strain (H13) produced an apparently unique EPS containing neutral and amino sugars. Of 10 strains of the pathogen "P. gingeri," the causal agent of mushroom ginger blotch, 8 gave mucoid growth on PAF. The "P. gingeri" EPS also was unique in containing both neutral sugar and glucuronic acid. Mucoid, weakly virulent strains of "P. reactans" produced either alginate or marginalan. All 10 strains of the pathogen P. tolaasii, the causal agent of brown blotch of mushrooms were nonnmucoid on PAF. Production of EPS by these 10 strains plus the 2 nonmucoid strains of "P. gingeri" also was negative on several additional solid media as well as in two broth media tested. The results support our previous studies indicating that fluorescent pseudomonads are a rich source of novel EPSs. PMID:7574589

Molecular epidemiology and clinical characteristics of drug-resistant Mycobacterium tuberculosis in a tuberculosis referral hospital in China.

PubMed

Wang, Qi; Lau, Susanna K P; Liu, Fei; Zhao, Yanlin; Li, Hong Min; Li, Bing Xi; Hu, Yong Liang; Woo, Patrick C Y; Liu, Cui Hua

2014-01-01

Despite the large number of drug-resistant tuberculosis (TB) cases in China, few studies have comprehensively analyzed the drug resistance-associated gene mutations and genotypes in relation to the clinical characteristics of M. tuberculosis (Mtb) isolates. We thus analyzed the phenotypic and genotypic drug resistance profiles of 115 Mtb clinical isolates recovered from a tuberculosis referral hospital in Beijing, China. We also performed genotyping by 28 loci MIRU-VNTR analysis. Socio-demographic and clinical data were retrieved from medical records and analyzed. In total, 78 types of mutations (including 42 previously reported and 36 newly identified ones) were identified in 115 Mtb clinical isolates. There was significant correlation between phenotypic and genotypic drug resistance rates for first-line anti-TB drugs (P<0.001). Genotyping revealed 101 MIRU-VNTR types, with 20 isolates (17.4%) being clustered and 95 isolates (82.6%) having unique genotypes. Higher proportion of re-treatment cases was observed among patients with clustered isolates than those with unique MIRU-VNTR genotypes (75.0% vs. 41.1%). Moreover, clinical epidemiological links were identified among patients infected by Mtb strains belonging to the same clusters, suggesting a potential of transmission among patients. Our study provided information on novel potential drug resistance-associated mutations in Mtb. In addition, the genotyping data from our study suggested that enforcement of the implementation of genotyping in diagnostic routines would provide important information for better monitor and control of TB transmission.

Auricular burns associated with operating microscope use during otologic surgery.

PubMed

Latuska, Richard F; Carlson, Matthew L; Neff, Brian A; Driscoll, Colin L; Wanna, George B; Haynes, David S

2014-02-01

To raise awareness of the potential hazard of auricular burns associated with operating microscope use during otologic surgery. Retrospective case series and summary of the Food and Drug Administration's (FDA) Manufacturer and User Facility Device Experience (MAUDE) database of voluntary adverse event reports pertaining to microscope related auricular thermal injuries. All patients who sustained auricular burns while using the operating microscope during otologic surgery at 2 tertiary academic referral centers. Surgical procedure, microscope model, intensity of illumination, length of procedure, focal length, location and severity of burn, and patient outcome. A total of 4 microscope-related auricular thermal injuries were identified from the authors' institutions. Additionally, 82 unique cases of soft tissue burns associated with the use of an operative microscope have been voluntarily reported to the FDA since 2004. A disproportionately large percent (∼ 30%) of these occurred within the field of otology, the majority of which were during tympanoplasty or tympanomastoidectomy procedures at focal length distances of 300 mm or less with xenon light source microscopes. Simultaneous advancements in light delivery technologies and lens optics have continued to improve the efficiency of the operating microscope; however, these improvements also increase the potential for thermal injuries. Although rare, a review of the FDA MAUDE database suggests that microscope-related soft tissue burns occur more frequently in otology than any other surgical specialty. A variety of factors may help explain this finding, including the unique anatomy of the external ear with thin skin and limited underlying adipose tissue. Preventative measures should be taken to decrease the risk of thermal injuries including use of the lowest comfortable light intensity, adjusting the aperture width to match the operative field, frequent wound irrigation, and covering exposed portions of the pinna with a moist surgical sponge.

Severe acute haemorrhagic liver failure in a neonate with a favourable spontaneous outcome.

PubMed

Cavet, Madeleine; Balu, Marie; Garel, Catherine; Mitanchez, Delphine; Renolleau, Sylvain; Alexandre, Marie; Pariente, Danièle; Ducou le Pointe, Hubert

2008-10-01

Acute liver failure in neonates is rare and is frequently associated with an unfavourable outcome. There is no curative treatment other than liver transplantation. Screening for viral, metabolic, toxic or vascular disease is essential to assess the prognosis and to guide specific treatment. Hepatic haemorrhage in neonates is often associated with bacterial infection, trauma and coagulopathies. We present a unique case of neonatal acute liver failure and multifocal massive haemorrhagic intrahepatic lesions of traumatic origin, documented by US and MRI. The patient made a spontaneous recovery. Clinical, biological and imaging outcome was excellent despite the apparent severity of the initial features. The only possible aetiology was a difficult caesarean delivery for mild fetal macrosomia.

Microbe-Induced Inflammatory Signals Triggering Acquired Bone Marrow Failure Syndromes.

PubMed

Espinoza, J Luis; Kotecha, Ritesh; Nakao, Shinji

2017-01-01

Acquired bone marrow failure syndromes encompass a unique set of disorders characterized by a reduction in the effective production of mature cells by the bone marrow (BM). In the majority of cases, these syndromes are the result of the immune-mediated destruction of hematopoietic stem cells or their progenitors at various stages of differentiation. Microbial infection has also been associated with hematopoietic stem cell injury and may lead to associated transient or persistent BM failure, and recent evidence has highlighted the potential impact of commensal microbes and their metabolites on hematopoiesis. We summarize the interactions between microorganisms and the host immune system and emphasize how they may impact the development of acquired BM failure.

Microbe-Induced Inflammatory Signals Triggering Acquired Bone Marrow Failure Syndromes

PubMed Central

Espinoza, J. Luis; Kotecha, Ritesh; Nakao, Shinji

2017-01-01

Acquired bone marrow failure syndromes encompass a unique set of disorders characterized by a reduction in the effective production of mature cells by the bone marrow (BM). In the majority of cases, these syndromes are the result of the immune-mediated destruction of hematopoietic stem cells or their progenitors at various stages of differentiation. Microbial infection has also been associated with hematopoietic stem cell injury and may lead to associated transient or persistent BM failure, and recent evidence has highlighted the potential impact of commensal microbes and their metabolites on hematopoiesis. We summarize the interactions between microorganisms and the host immune system and emphasize how they may impact the development of acquired BM failure. PMID:28286502

A border context of violence: Mexican female sex workers on the U.S.-Mexico border.

PubMed

Cepeda, Alice; Nowotny, Kathryn M

2014-12-01

Female sex workers (FSW) represent a population confronted with an array of intersecting social problems. We explore the case of FSW in Nuevo Laredo and Ciudad Juarez to understand the everyday violence associated with sex work within the unique context of Mexico. Life history interviews were conducted with 109 FSW revealing violent acts by clients and other sex industry employees (bar owners, police, other FSW). The risk of violence by different types of persons associated with the sex work industry varied by venue and geographic area. Moreover, the violence was shaped by the social structural constraints of dominant gender ideologies. © The Author(s) 2014.

Cerebrovascular Accident Incidence in the NASA Astronaut Population

NASA Technical Reports Server (NTRS)

LaPelusa, Michael B.; Charvat, Jacqueline M.; Lee, Lesley R.; Wear, Mary L.; Van Baalen, Mary

2016-01-01

The development of atherosclerosis is strongly associated with an increased risk for cerebrovascular accidents (CVA), including stroke and transient ischemic attacks (TIA). Certain unique occupational exposures that individuals in the NASA astronaut corps face, specifically high-performance aircraft training, SCUBA training, and spaceflight, are hypothesized to cause changes to the cardiovascular system. These changes, which include (but are not limited to) oxidative damage as a result of radiation exposure and circadian rhythm disturbance, increased arterial stiffness, and increased carotid-intima-media thickness (CIMT), may contribute to the development of atherosclerosis and subsequent CVA. The purpose of this study was to review cases of CVA in the NASA astronaut corps and describe the comorbidities and occupational exposures associated with CVA.

A Unique Instrumental Malfunction during Robotic Prostatectomy

PubMed Central

Park, Sung Yul; Ahn, Jenny Jin-Kyung; Jeong, Wooju; Ham, Won Sik

2010-01-01

Over the past decade, the introduction of robotics in the field of medicine has provided a new approach to patients requiring surgery, and both its advantages and disadvantages are currently under study by many groups worldwide. The use of robotics has especially been considered by the urological community as a treatment option in radical prostatectomy. The current case report is one in which the da Vinci Surgical System™, with fourth arm use was employed in radical prostatectomy. This case presents a unique occurrence in which a bolt of the Prograsper forcep became loose during an operation, leading to diminished device functionality and later impedance of its removal. A circumstance such as this has not previously been reported, so we introduce for other robotic surgeons our unique instrumental malfunction case during a robotic prostatectomy. PMID:20046531

Celiac Disease Associated with a Benign Granulomatous Mass Demonstrating Self-Regression after Initiation of a Gluten-Free Diet.

PubMed

Tiwari, Abhinav; Sharma, Himani; Qamar, Khola; Khan, Zubair; Darr, Umar; Renno, Anas; Nawras, Ali

2017-01-01

Celiac disease is a chronic immune-mediated enteropathy in which dietary gluten induces an inflammatory reaction predominantly in the duodenum. Celiac disease is known to be associated with benign small bowel thickening and reactive lymphadenopathy that often regresses after the institution of a gluten-free diet. A 66-year-old male patient with celiac disease presented with abdominal pain and diarrheal illness. Computerized tomography of the abdomen revealed a duodenal mass. Endoscopic ultrasound-guided fine needle aspiration of the mass revealed bizarre stromal cells which represent a nonspecific tissue reaction to inflammation. This inflammatory mass regressed after the institution of a gluten-free diet. This case report describes a unique presentation of celiac disease in the form of a granulomatous self-regressing mass. Also, this is the first reported case of bizarre stromal cells found in association with celiac disease. In addition to lymphoma and small bowel adenocarcinoma, celiac disease can present with a benign inflammatory mass, which should be serially monitored for resolution with a gluten-free diet.

Genome-wide association mapping identifies multiple loci for a canine SLE-related disease complex.

PubMed

Wilbe, Maria; Jokinen, Päivi; Truvé, Katarina; Seppala, Eija H; Karlsson, Elinor K; Biagi, Tara; Hughes, Angela; Bannasch, Danika; Andersson, Göran; Hansson-Hamlin, Helene; Lohi, Hannes; Lindblad-Toh, Kerstin

2010-03-01

The unique canine breed structure makes dogs an excellent model for studying genetic diseases. Within a dog breed, linkage disequilibrium is extensive, enabling genome-wide association (GWA) with only around 15,000 SNPs and fewer individuals than in human studies. Incidences of specific diseases are elevated in different breeds, indicating that a few genetic risk factors might have accumulated through drift or selective breeding. In this study, a GWA study with 81 affected dogs (cases) and 57 controls from the Nova Scotia duck tolling retriever breed identified five loci associated with a canine systemic lupus erythematosus (SLE)-related disease complex that includes both antinuclear antibody (ANA)-positive immune-mediated rheumatic disease (IMRD) and steroid-responsive meningitis-arteritis (SRMA). Fine mapping with twice as many dogs validated these loci. Our results indicate that the homogeneity of strong genetic risk factors within dog breeds allows multigenic disorders to be mapped with fewer than 100 cases and 100 controls, making dogs an excellent model in which to identify pathways involved in human complex diseases.

Primary Renal Rhabdomyosarcoma in an Adolescent With Tumor Thrombosis in the Inferior Vena Cava and Right Atrium: A Case Report and Review of the Literature.

PubMed

Lin, Wei-Ching; Chen, Jeon-Hor; Westphalen, Antonio; Chang, Han; Chiang, I-Ping; Chen, Cheng-Hong; Wu, Hsi-Chin; Lin, Chien-Heng

2016-05-01

Although the second peak of the age distribution of rhabdomyosarcoma (RMS) is at adolescence, renal RMS is extremely rare at this age group. This tumor is indistinguishable from other renal tumors based on clinical and imaging findings, and the diagnosis relies on histology and immunohistochemical staining. We report a unique case of adolescent renal RMS associated with tumor thrombus extending into the inferior vena cava (IVC) and right atrium.An 18-year-old female adolescent presented with shortness of breath and palpitations, associated with right flank discomfort, and hematuria. A pleomorphic-type renal RMS with Budd-Chiari syndrome and arrhythmia induced by IVC and RA thrombosis was diagnosed. Despite complete tumor resection, the patient developed multiple lung metastases a month after surgery. Chemotherapy was recommended, but the patient declined. She died within a year of the initial operation.Adolescent renal RMS is rare and associated with poor outcome. Early aggressive multimodal therapy seems to be appropriate, in particular, in the presence of tumor thrombosis.

Implant bone integration importance in forensic identification.

PubMed

De Angelis, Danilo; Cattaneo, Cristina

2015-03-01

Odontological identification consists of the comparison of antemortem dental information regarding a missing person with postmortem data from an unidentified corpse or human remains. Usually, the comparison concerns morphologic features that the operator chooses among all the visible characteristics because of inter-individual uniqueness; for this reason, implants can be of enormous assistance. A case concerning the recovery of a burnt oral implant, connected to a bone fragment, among 2780 charred bone fragments, suspected to have belonged to a victim of homicide, is presented to demonstrate that dental implants and their site of bone integration represent a very precious element for personal forensic identification. Because of their morphological invariability in time and because of their morphologic uniqueness, they were used as evidence to associate unidentified human charred remains to a missing person where DNA analysis failed to do so. The case illustrates the fundamental contribution, not yet described in literature, given by the clinical aspects of tooth replacement with dental implants to a forensic discipline. Clinical practitioners should therefore be aware of the great importance of their work and of dental records in a forensic identification scenario. © 2014 American Academy of Forensic Sciences.

JAK2 haplotype is a major risk factor for the development of myeloproliferative neoplasms

PubMed Central

Jones, Amy V; Chase, Andrew; Silver, Richard T; Oscier, David; Zoi, Katerina; Wang, Y Lynn; Cario, Holger; Pahl, Heike L; Collins, Andrew; Reiter, Andreas; Grand, Francis; Cross, Nicholas C P

2014-01-01

Chronic myeloproliferative neoplasms (MPNs) are a group of related conditions characterized by the overproduction of cells from one or more myeloid lineages. More than 95% of cases of polycythemia vera, and roughly half of essential thrombocythemia and primary myelofibrosis acquire a unique somatic 1849G>T JAK2 mutation (encoding V617F) that is believed to be a critical driver of excess proliferation1–4. We report here that JAK2V617F-associated disease is strongly associated with a specific constitutional JAK2 haplotype, designated 46/1, in all three disease entities compared to healthy controls (polycythemia vera, n = 192, P = 2.9 × 10−16; essential thrombocythemia, n = 78, P = 8.2 × 10−9 and myelofibrosis, n = 41, P = 8.0 × 10−5). Furthermore, JAK2V617F specifically arises on the 46/1 allele in most cases. The 46/1 JAK2 haplotype thus predisposes to the development of JAK2V617F-associated MPNs (OR = 3.7; 95% CI = 3.1–4.3) and provides a model whereby a constitutional genetic factor is associated with an increased risk of acquiring a specific somatic mutation. PMID:19287382

Meridional lenticular astigmatism associated with bilateral concurrent uveal metastases in renal cell carcinoma.

PubMed

Priluck, Joshua C; Grover, Sandeep; Chalam, Kv

2012-01-01

To demonstrate a case illustrating meridional lenticular astigmatism as a result of renal cell carcinoma uveal metastases. Case report with images. Clinical findings and diagnostic testing of a patient with acquired meridional lenticular astigmatism are described. The refraction revealed best-corrected visual acuity of 20/20-1 OD (-2.50 + 0.25 × 090) and 20/50 OS (-8.25 + 3.25 × 075). Bilateral concurrent renal cell carcinoma metastases to the choroid and ciliary body are demonstrated by utilizing ultrasonography, ultrawidefield fluorescein angiography, and unique spectral-domain optical coherence tomography. Metastatic disease should be included in the differential of acquired astigmatism. Spectral-domain optical coherence tomography, ultrawidefield fluorescein angiography, and ultrasonography have roles in delineating choroidal metastases.

Scleredema adultorum of Buschke presenting as periorbital edema: a diagnostic challenge.

PubMed

Ioannidou, Despina I; Krasagakis, Konstantin; Stefanidou, Maria P; Karampekios, Spyros; Panayiotidis, John; Tosca, Androniki D

2005-02-01

Scleredema adultorum is a rare sclerotic disorder characterized by diffuse swelling and nonpitting induration of the skin. Its occurrence has been documented in association with infections, diabetes mellitus, paraproteinemia, multiple myeloma, and monoclonal gammopathy. We report an unusual case of a 48-year-old man with an asymptomatic bilateral eyelid edema of sudden onset. During a period of 6 months, the condition slowly progressed to extensive nonpitting edematous swelling restricted to the periorbital sites. The presumptive diagnosis of scleredema adultorum was confirmed by the presence of typical histologic findings. This case is unique in that the periorbital swelling remained as the sole clinical manifestation of scleredema during the 5-year follow-up and was complicated with partial vision blockage.

Association of the colorectal CpG island methylator phenotype with molecular features, risk factors, and family history.

PubMed

Weisenberger, Daniel J; Levine, A Joan; Long, Tiffany I; Buchanan, Daniel D; Walters, Rhiannon; Clendenning, Mark; Rosty, Christophe; Joshi, Amit D; Stern, Mariana C; LeMarchand, Loic; Lindor, Noralane M; Daftary, Darshana; Gallinger, Steven; Selander, Teresa; Bapat, Bharati; Newcomb, Polly A; Campbell, Peter T; Casey, Graham; Ahnen, Dennis J; Baron, John A; Haile, Robert W; Hopper, John L; Young, Joanne P; Laird, Peter W; Siegmund, Kimberly D

2015-03-01

The CpG island methylator phenotype (CIMP) represents a subset of colorectal cancers characterized by widespread aberrant DNA hypermethylation at select CpG islands. The risk factors and environmental exposures contributing to etiologic heterogeneity between CIMP and non-CIMP tumors are not known. We measured the CIMP status of 3,119 primary population-based colorectal cancer tumors from the multinational Colon Cancer Family Registry. Etiologic heterogeneity was assessed by a case-case study comparing risk factor frequency of colorectal cancer cases with CIMP and non-CIMP tumors using logistic regression to estimate the case-case odds ratio (ccOR). We found associations between tumor CIMP status and MSI-H (ccOR = 7.6), BRAF V600E mutation (ccOR = 59.8), proximal tumor site (ccOR = 9; all P < 0.0001), female sex [ccOR = 1.8; 95% confidence interval (CI), 1.5-2.1], older age (ccOR = 4.0 comparing over 70 years vs. under 50; 95% CI, 3.0-5.5), and family history of CRC (ccOR = 0.6; 95% CI, 0.5-0.7). While use of NSAIDs varied by tumor CIMP status for both males and females (P = 0.0001 and P = 0.02, respectively), use of multivitamin or calcium supplements did not. Only for female colorectal cancer was CIMP status associated with increased pack-years of smoking (Ptrend < 0.001) and body mass index (BMI; Ptrend = 0.03). The frequency of several colorectal cancer risk factors varied by CIMP status, and the associations of smoking and obesity with tumor subtype were evident only for females. Differences in the associations of a unique DNA methylation-based subgroup of colorectal cancer with important lifestyle and environmental exposures increase understanding of the molecular pathologic epidemiology of this heavily methylated subset of colorectal cancer. Cancer Epidemiol Biomarkers Prev; 24(3); 512-9. ©2015 AACR. ©2015 American Association for Cancer Research.

Case studies continue to illuminate the cognitive neuroscience of memory.

PubMed

Rosenbaum, R Shayna; Gilboa, Asaf; Moscovitch, Morris

2014-05-01

The current ubiquity of functional neuroimaging studies, and the importance they have had in elucidating brain function, obscures the fact that much of what we know about brain-behavior relationships derives largely from the study of single- and multiple-patient cases. A major goal of the present review is to describe how single cases continue to uniquely and critically contribute to cognitive neuroscience theory. With several recent examples from the literature, we demonstrate that single cases can both challenge accepted dogma and generate hypotheses and theories that steer the field in new directions. We discuss recent findings from case studies that specify critical functions of the hippocampus in episodic memory and recollection, and clarify its role in nonmnemonic abilities. Although we focus on the hippocampus, we discuss other regions and the occurrence of new associative learning, as well as the involvement of the ventromedial prefrontal and parietal cortices in memory encoding and retrieval. We also describe ways of dealing with the shortcomings of case studies, and emphasize the partnership of patient and neuroimaging methods in constraining neurocognitive models of memory. © 2014 New York Academy of Sciences.

Art, Meet Chemistry; Chemistry, Meet Art: Case Studies, Current Literature, and Instrumental Methods Combined to Create a Hands-On Experience for Nonmajors and Instrumental Analysis Students

ERIC Educational Resources Information Center

Nivens, Delana A.; Padgett, Clifford W.; Chase, Jeffery M.; Verges, Katie J.; Jamieson, Deborah S.

2010-01-01

Case studies and current literature are combined with spectroscopic analysis to provide a unique chemistry experience for art history students and to provide a unique inquiry-based laboratory experiment for analytical chemistry students. The XRF analysis method was used to demonstrate to nonscience majors (art history students) a powerful…

A unique measles B3 cluster in the United Kingdom and the Netherlands linked to air travel and transit at a large international airport, February to April 2014.

PubMed

Nic Lochlainn, Laura; Mandal, Sema; de Sousa, Rita; Paranthaman, Karthik; van Binnendijk, Rob; Ramsay, Mary; Hahné, Susan; Brown, Kevin E

2016-01-01

This report describes a joint measles outbreak investigation between public health officials in the United Kingdom (UK) and the Netherlands following detection of a measles cluster with a unique measles virus strain. From 1 February to 30 April 2014, 33 measles cases with a unique measles virus strain of genotype B3 were detected in the UK and the Netherlands, of which nine secondary cases were epidemiologically linked to an infectious measles case travelling from the Philippines. Through a combination of epidemiological investigation and sequence analysis, we found that measles transmission occurred in flight, airport and household settings. The secondary measles cases included airport workers, passengers in transit at the same airport or travelling on the same flight as the infectious case and also household contacts. This investigation highlighted the particular importance of measles genotyping in identifying transmission networks and the need to improve vaccination, public health follow-up and management of travellers and airport staff exposed to measles.

Purple Glove Syndrome after Phenytoin or Fosphenytoin Administration: Review of Reported Cases and Recommendations for Prevention.

PubMed

Garbovsky, Lyudmila A; Drumheller, Byron C; Perrone, Jeanmarie

2015-12-01

The aim of our study was to identify all previously reported cases of phenytoin- or fosphenytoin-associated purple glove syndrome (PGS) and summarize the most current understanding of the pathophysiology, clinical presentation, diagnosis, and treatment of the disease. We searched the English language references from MEDLINE, EMBASE, CINAHL, TOXNET, and gray literature that featured one or more case descriptions of phenytoin- or fosphenytoin-associated PGS after administration and provided information on the clinical setting of the event and associated outcome(s). Descriptive statistics were employed to summarize relevant facts about the cases. We identified 82 unique cases of parenteral phenytoin-associated PGS and 5 cases of fosphenytoin-associated PGS that were published from 1984 to 2015. Additionally, we found two cases of PGS associated with oral formulation of phenytoin published from 1999 to 2015. The spectrum of tissue injury ranged from mild local cutaneous reactions around the infusion site to frank limb ischemia. Just over a half of cases reported symptoms after one dose of IV phenytoin. Pathologic findings included evidence for microvascular thrombosis and possible microvascular or subclinical extravasation as a contributing mechanism. Dopper ultrasound and conventional angiography were used in some patients to identify arterial or venous thrombosis. Various treatments were documented including the use of supportive care such as limb elevation and heat or cold application, utilization of systemic antibiotics, anticoagulants, or vasodilators, and local infiltration of hyaluronidase, heparin, or other compounds. In a small number of patients, invasive interventions such as regional anesthesia, thrombectomy, fasciotomy, and debridement were described. Time to resolution varied from days to weeks. Resolution of PGS without deficits was documented in the majority of cases. Skin changes followed by sensory and motor deficits were described in 16, 6, and 5 cases, respectively. Four patients underwent skin grafting and eight patients required limb amputation. Death as a result of PGS was documented in two patients. PGS associated with oral and injectable phenytoin or parenteral fosphenytoin has been documented in the literature and sometimes includes significant vascular thrombosis and potentially limb-threatening ischemia. Avoidance of small hand veins, adherence to recommended IV administration guidelines and monitoring of the infusion site for reactions should be considered to decrease the morbidity of IV phenytoin or fosphenytoin use. Patients with PGS and evidence of decreased distal perfusion should undergo prompt vascular imaging and potential intervention to avoid ischemic sequelae. Alternative anticonvulsant drugs should be considered in patients at risk for PGS when possible.

Noun and knowledge retrieval for biological and non-biological entities following right occipitotemporal lesions.

PubMed

Bruffaerts, Rose; De Weer, An-Sofie; De Grauwe, Sophie; Thys, Miek; Dries, Eva; Thijs, Vincent; Sunaert, Stefan; Vandenbulcke, Mathieu; De Deyne, Simon; Storms, Gerrit; Vandenberghe, Rik

2014-09-01

We investigated the critical contribution of right ventral occipitotemporal cortex to knowledge of visual and functional-associative attributes of biological and non-biological entities and how this relates to category-specificity during confrontation naming. In a consecutive series of 7 patients with lesions confined to right ventral occipitotemporal cortex, we conducted an extensive assessment of oral generation of visual-sensory and functional-associative features in response to the names of biological and nonbiological entities. Subjects also performed a confrontation naming task for these categories. Our main novel finding related to a unique case with a small lesion confined to right medial fusiform gyrus who showed disproportionate naming impairment for nonbiological versus biological entities, specifically for tools. Generation of visual and functional-associative features was preserved for biological and non-biological entities. In two other cases, who had a relatively small posterior lesion restricted to primary visual and posterior fusiform cortex, retrieval of visual attributes was disproportionately impaired compared to functional-associative attributes, in particular for biological entities. However, these cases did not show a category-specific naming deficit. Two final cases with the largest lesions showed a classical dissociation between biological versus nonbiological entities during naming, with normal feature generation performance. This is the first lesion-based evidence of a critical contribution of the right medial fusiform cortex to tool naming. Second, dissociations along the dimension of attribute type during feature generation do not co-occur with category-specificity during naming in the current patient sample. Copyright © 2014 Elsevier Ltd. All rights reserved.

The unassigned distance geometry problem

DOE PAGES

Duxbury, P. M.; Granlund, L.; Gujarathi, S. R.; ...

2015-11-19

Studies of distance geometry problems (DGP) have focused on cases where the vertices at the ends of all or most of the given distances are known or assigned, which we call assigned distance geometry problems (aDGPs). In this contribution we consider the unassigned distance geometry problem (uDGP) where the vertices associated with a given distance are unknown, so the graph structure has to be discovered. uDGPs arises when attempting to find the atomic structure of molecules and nanoparticles using X-ray or neutron diffraction data from non-crystalline materials. Rigidity theory provides a useful foundation for both aDGPs and uDGPs, though itmore » is restricted to generic realizations of graphs, and key results are summarized. Conditions for unique realization are discussed for aDGP and uDGP cases, build-up algorithms for both cases are described and experimental results for uDGP are presented.« less

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

Lea, C.S.; Selvin, S.; Buffler, P.A.

This pilot study uses a unique method to calculate cumulative lifetime exposure to, ultraviolet radiation-b to determine if this refined method would indicate differences in lifetime cumulative UVB exposure between age and sex matched controls. Forty-four age and sex matched cases and controls demonstrated no significant difference in mean cumulative lifetime UVB exposure based on the duration and location of residence. This pilot study suggests that further analysis of the dataset should be conducted to determine if the cumulative lifetime exposure hypothesis is of primary importance regarding the association between UVB exposure and development of cutaneous malignant melanoma.

A New Variant of Connective Tissue Nevus with Elastorrhexis and Predilection for the Upper Chest.

PubMed

Chu, Derek H; Goldbach, Hayley; Wanat, Karolyn A; Rubin, Adam I; Yan, Albert C; Treat, James R

2015-01-01

Localized changes in cutaneous elastic tissue often manifest with flesh-colored, hypopigmented, or yellow papules, plaques, and nodules. We present five children with clinically similar cobblestone plaques composed of multiple hypopigmented, nonfollicular, pinpoint papules located unilaterally over the upper chest. All lesions first appeared at birth or during early infancy. No associated extracutaneous abnormalities have been identified. Histopathology was remarkable for many, thick elastic fibers with elastorrhexis. We believe that these cases represent a distinct and unique variant of connective tissue nevi. © 2014 Wiley Periodicals, Inc.

The Journey of Harmless Bullet: The Perioperative Care of Penetrating Cardiac Injury

PubMed Central

Abou-Leila, Ahmad; Voronov, Gennadiy

2017-01-01

Traumatic injuries to the heart contribute significantly to trauma are associated with high mortality. Cardiac gunshot wounds (GSW) are considered more lethal compared to other injuries and present several unique challenges to the anesthesia management and perioperative care. We are reporting a rare case of a trauma victim who survived a GSW to the heart. We will discuss the perioperative care of penetrating cardiac injuries, the role of the anesthesia team in resuscitation, safe anesthesia induction, cardiopulmonary bypass management, and the essential role of intraoperative transesophageal echocardiogram imaging. PMID:28928592

[Comprehensive dental treatment under general anaesthesia: implementation among patients with mouth opening limitation].

PubMed

Wolff, A; Singer, A; Shlomi, B

2013-07-01

Patients unable to tolerate routine dental treatment in an ordinary dental setting may undergo a wide range of dental procedures under general anaesthesia. This report describes a practical protocol for providing comprehensive dental treatment under general anaesthesia. The importance and uniqueness of planning, treating and adopting safety measures is illustrated through the presentation of clinical cases of patients with mouth opening limitation. Complete treatment can thus be achieved in a single visit, thereby eliminating repetition of coping with anxiety associated with repeated treatment sessions.

Outbreak of hepatitis A associated with men who have sex with men (MSM), England, July 2016 to January 2017.

PubMed

Beebeejaun, Kazim; Degala, Srilaxmi; Balogun, Koye; Simms, Ian; Woodhall, Sarah Charlotte; Heinsbroek, Ellen; Crook, Paul David; Kar-Purkayastha, Ishani; Treacy, Juli; Wedgwood, Kate; Jordan, Kate; Mandal, Sema; Ngui, Siew Lin; Edelstein, Michael

2017-02-02

Between July 2016 and January 2017, 37 confirmed cases of hepatitis A with two unique IA genotype strains primarily among men who have sex with men, were reported across eight areas in England and Northern Ireland. Epidemiological and laboratory investigations indicate that these strains may have been imported several times from Spain, with secondary sexual transmission in the United Kingdom. Local and national public health services are collaborating to control this ongoing outbreak. This article is copyright of The Authors, 2017.

A Profession Without Limits: The Changing Role of Reference Librarians.

PubMed

Sullo, Elaine; Gomes, Alexandra W

2016-01-01

Reference librarians, specifically those working in academic health sciences environments, have expanded their roles and taken on new and unique responsibilities. While librarians at The George Washington University's Himmelfarb Health Sciences Library continue to provide traditional reference services, they have gone beyond their comfort zone in many cases to become involved in activities that are outside of the librarian's established role. This article describes the current roles of Himmelfarb's reference librarians, as well as the way these librarians prepared for these roles and addressed the associated challenges.

Extreme delta brush evolving into status epilepticus in a patient with anti-NMDA encephalitis.

PubMed

Herlopian, Aline; Rosenthal, Eric S; Chu, Catherine J; Cole, Andrew J; Struck, Aaron F

2017-01-01

Extreme delta brush (EDB) is an EEG pattern unique to anti-NMDA encephalitis. It is correlated with seizures and status epilepticus in patients who have a prolonged course of illness. The etiology of the underlying association between EDB and seizures is not understood. We present a patient with anti-NMDA encephalitis who developed status epilepticus evolving from the high frequency activity of the extreme delta brush. This case demonstrates that EDB is not only a marker for a greater propensity for seizures but also directly implicated in seizure generation.

Is gliomatosis peritonei derived from the associated ovarian teratoma?

PubMed

Kwan, Man-Yee; Kalle, Wouter; Lau, Gene T C; Chan, John K C

2004-06-01

Gliomatosis peritonei, a rare condition that occurs almost exclusively in the setting of ovarian immature teratoma, is characterized by the occurrence of nodules of mature glial tissues in the peritoneum. It is controversial whether glial tissues are derived from maturation of the associated teratomatous tissue that has implanted in the peritoneum, or glial differentiation of subperitoneal stem cells. In this study, we employed the unique genetic characteristics of ovarian teratomas (often with a duplicated set of maternal chromosomes and thus homozygous at many polymorphic microsatellite loci) versus normal tissues (heterozygous pattern due to presence of maternal and paternal genetic materials) to investigate the origin of gliomatosis peritonei. DNA samples were extracted from microdissected paraffin-embedded tissues, including the glial implants, the associated ovarian teratomas, and normal tissues, to determine their patterns of microsatellite loci in a multiplex polymerase chain reaction system. Two cases were not informative because the ovarian teratoma showed a heterozygous microsatellite pattern. In the 5 informative cases, the normal tissues showed a heterozygous pattern in the microsatellite loci, the associated teratomas showed a homozygous pattern, and the glial tissues showed a heterozygous pattern. Thus, gliomatosis peritonei is genetically unrelated to the associated teratoma but is probably derived from nonteratomatous cells, such as through metaplasia of submesothelial cells.

Epigenetic age analysis of children who seem to evade aging.

PubMed

Walker, Richard F; Liu, Jia Sophie; Peters, Brock A; Ritz, Beate R; Wu, Timothy; Ophoff, Roel A; Horvath, Steve

2015-05-01

We previously reported the unusual case of a teenage girl stricken with multifocal developmental dysfunctions whose physical development was dramatically delayed resulting in her appearing to be a toddler or at best a preschooler, even unto the occasion of her death at the age of 20 years. Her life-long physician felt that the disorder was unique in the world and that future treatments for age-related diseases might emerge from its study. The objectives of our research were to determine if other such cases exist, and if so, whether aging is actually slowed. Of seven children characterized by dramatically slow developmental rates, five also had associated disorders displayed by the first case. All of the identified subjects were female. To objectively measure the age of blood tissue from these subjects, we used a highly accurate biomarker of aging known as "epigenetic clock" based on DNA methylation levels. No statistically significant differences in chronological and epigenetic ages were detected in any of the newly discovered cases.

Synchronous Hepatoblastoma, Neuroblastoma, and Cutaneous Capillary Hemangiomas: A Case Report.

PubMed

Ozawa, Michael G; Cooney, Tabitha; Rangaswami, Arun; Hazard, Florette K

2016-01-01

Multiple synchronous tumors presenting in infancy raise concern for inherited or sporadic cancer predisposition syndromes, which include Beckwith-Wiedemann syndrome, familial adenomatous polyposis syndrome, and Li-Fraumeni syndrome. We report a case of a 7-month-old previously healthy male born following an in vitro fertilization-assisted twin pregnancy who presented with new-onset refractory shock, severe acidosis, and rapid decline over several hours. An autopsy revealed a ruptured liver involved by hepatoblastoma, an adrenal gland involved by neuroblastoma, and multiple cutaneous capillary hemangiomas. Standard genetic testing demonstrated that both twins were Gaucher disease (GD) carriers without evidence of other known cancer predisposition syndromes. This report describes a unique association of multiple synchronous tumors, which underscores the utility and importance of the pediatric autopsy. Moreover, given that the reported child was a GD carrier, the possibility the tumors were the result of a GD-mediated cancer-associated phenotype or an unrecognized sporadic clinical syndrome remains an unanswered, but intriguing, question worthy of further investigation.

Juvenile myoclonic epilepsy presenting as a new daily persistent-like headache.

PubMed

Rozen, Todd D

2011-12-01

New daily persistent headache (NDPH) is a recognized subtype of chronic daily headache with a unique presentation of a daily headache from onset typically in individuals with minimal or no prior headache history. Various secondary mimics of NDPH have now been documented but at present there has been no association made between primary epilepsy syndromes and new daily persistent-like headaches. A case patient is presented who developed a daily continuous headache from onset who 3 months after headache initiation had her first generalized tonic-clonic seizure. Further investigation into her history and her specific EEG pattern suggested a diagnosis of juvenile myoclonic epilepsy (JME). Her NDPH and seizures ceased with epilepsy treatment. Clinically relevant was that the headache was the primary persistent clinical symptom of her JME before the onset of generalized tonic-clonic seizures. The current case report adds another possible secondary cause of new daily persistent-like headaches to the medical literature and suggests another association between primary epilepsy syndromes and distinct headache syndromes.

The Neural Correlates of Humor Creativity

PubMed Central

Amir, Ori; Biederman, Irving

2016-01-01

Unlike passive humor appreciation, the neural correlates of real-time humor creation have been unexplored. As a case study for creativity, humor generation uniquely affords a reliable assessment of a creative product’s quality with a clear and relatively rapid beginning and end, rendering it amenable to neuroimaging that has the potential for reflecting individual differences in expertise. Professional and amateur “improv” comedians and controls viewed New Yorker cartoon drawings while being scanned. For each drawing, they were instructed to generate either a humorous or a mundane caption. Greater comedic experience was associated with decreased activation in the striatum and medial prefrontal cortex (mPFC), but increased activation in temporal association regions (TMP). Less experienced comedians manifested greater activation of mPFC, reflecting their deliberate search through TMP association space. Professionals, by contrast, tend to reap the fruits of their spontaneous associations with reduced reliance on top-down guided search. PMID:27932965

The Neural Correlates of Humor Creativity.

PubMed

Amir, Ori; Biederman, Irving

2016-01-01

Unlike passive humor appreciation, the neural correlates of real-time humor creation have been unexplored. As a case study for creativity, humor generation uniquely affords a reliable assessment of a creative product's quality with a clear and relatively rapid beginning and end, rendering it amenable to neuroimaging that has the potential for reflecting individual differences in expertise. Professional and amateur "improv" comedians and controls viewed New Yorker cartoon drawings while being scanned. For each drawing, they were instructed to generate either a humorous or a mundane caption. Greater comedic experience was associated with decreased activation in the striatum and medial prefrontal cortex (mPFC), but increased activation in temporal association regions (TMP). Less experienced comedians manifested greater activation of mPFC, reflecting their deliberate search through TMP association space. Professionals, by contrast, tend to reap the fruits of their spontaneous associations with reduced reliance on top-down guided search.

Craniocervical hyperpneumatization with concurrent pneumorrhachis, pneumomediastinum, and subcutaneous emphysema in a weightlifter.

PubMed

Germino, Jessica C; Medverd, Jonathan R; Nguyen, Vicky T; Favinger, Jennifer L; Marder, Carrie P

2013-10-01

Acquired hyperpneumatization of the skull base and upper cervical vertebrae is extremely rare and is thought to occur in patients who habitually perform the Valsalva maneuver or engage in repetitive positive pressure activities such as scuba diving or free diving. Craniocervical hyperpneumatization has been reported to cause intracranial and extracranial pneumatoceles but is not generally considered as a cause of pneumorrhachis (air in the spinal canal). Pneumorrhachis is relatively rare, and usually occurs in a localized form, either in the cervical spine secondary to skull base fractures or in the thoracic spine secondary to pneumomediastinum or pneumothorax. Here, we report a case of extensive pneumorrhachis extending from the skull base to the thoracolumbar junction in association with marked axio-atlanto-occipital hyperpneumatization and pneumomediastinum. This unique constellation of findings likely resulted from complications of the Valsalva maneuver during strenuous exercise. To present a unique case of axio-atlanto-occipital hyperpneumatization with concurrent marked cervicothoracic pneumorrhachis, subcutaneous emphysema, and pneumomediastinum and to provide a review of the relevant literature, pathophysiology, and treatment strategies related to hyperpneumatization and pneumorrhachis. A unique case report from an urban medical center. A single case. Imaging findings and clinical history. Imaging data from a picture archiving and communication system and clinical data from an electronic medical record system were analyzed. A 58-year-old previously healthy man presented with 3 to 4 weeks of neck pain, shoulder pain, and intermittent hand and finger numbness that developed after weightlifting. On physical examination, he had mild hyperreflexia and decreased pinprick sensation within the T5-T8 dermatomes. Initial radiographic and computed tomography (CT) studies demonstrated extensive craniocervical hyperpneumatization involving the occipital bone, clivus, and C1 and C2 vertebral bodies. There was also pneumorrhachis extending throughout the entire cervical and thoracic spine, which caused moderate dural compression. Pneumomediastinum and subcutaneous emphysema were present. Maxillofacial CT showed dehiscent bone involving the dens, atlas, and occipital bone, with adjacent soft-tissue gas and pneumorrhachis. He was managed conservatively and advised to stop performing the Valsalva maneuver during weightlifting. His symptoms resolved, and follow-up imaging showed complete resolution of pneumorrhachis and partial reversal of hyperpneumatization. Craniocervical hyperpneumatization is a rare complication of the Valsalva maneuver. Most reported cases have involved only the skull base, or the skull base and C1, and many have been further complicated by microfractures leading to pneumocephalus or extracranial pneumatoceles. We present a unique case of extensive craniocervical hyperpneumatization that extended to the level of C2 and was complicated by microfractures causing severe pneumorrhachis. Concurrent pneumomediastinum in this case may have been an independent complication of the Valsalva maneuver, which could have contributed to pneumorrhachis. Alternatively, pneumomediastinum may have been caused by migration of gas through the neural foramen from the epidural space, driven by positive pressure generated by the one-way valve effect of the Eustachian tube during periods of exertion. Copyright © 2013 Elsevier Inc. All rights reserved.

Pathological features of polyneuropathy in three dogs.

PubMed

Tsuboi, Masaya; Uchida, Kazuyuki; Ide, Tetsuya; Ogawa, Mizue; Inagaki, Takehiko; Tamura, Shinji; Saito, Miyoko; Chambers, James K; Nakayama, Hiroyuki

2013-01-01

Canine polyneuropathy is a neurological disorder characterized by a dysfunction of multiple peripheral nerves. The etiology of the disease is diverse; it may occur in cases of infectious, immune-mediated, or hereditary conditions or in association with endocrinopathy, neoplasm, or chemical intoxication. It is often difficult to determine the etiology through clinical symptoms. The aim of this study is to investigate pathological differences among three canine polyneuropathy cases with each presumably having a different etiology. Cases included a 13-month-old female border collie (Dog No.1), a 21-month-old male chihuahua (Dog No.2) and an 11-year-old male beagle (Dog No.3). Clinical examinations revealed hindlimb ataxia and sensory loss in Dog No.1, forelimb paralysis and vertebral pain in Dog No.2, and paddling-gait and hypothyroidism in Dog No.3. Histopathologically, axonal swelling and pale myelin were observed in Dog No.1. Giant axons mimicking giant axonal neuropathy were obvious in Dog No.2. Dog No.3 showed atrophic axons and severe interstitial edema. Distributions of peripheral nerve lesions coincided with respective clinical symptoms. According to their clinical and pathological features, Dogs No.1 and No.2 were suspected of hereditary polyneuropathy, while Dog No.3 seemed to have hypothyroidism-associated polyneuropathy. As each case demonstrated unique pathological features, different pathogeneses of peripheral nerve dysfunction were suggested.

Acute, Nontraumatic Spontaneous Spinal Subdural Hematoma: A Case Report and Systematic Review of the Literature

PubMed Central

Abel, Taylor J.

2017-01-01

Spontaneous spinal subdural hematoma (sSDH) is a rare condition outright. Moreover, cases that occur spontaneously in the absence of an identifiable etiology are considerably less common and remain poorly understood. Here, we present the case of a 43-year-old man with spontaneous sSDH presenting with acute onset low back pain and paraplegia. Urgent magnetic resonance imaging identified a dorsal SDH from T8 to T11 with compression of the spinal cord. Emergent T8–T10 laminectomies with intradural exploration and hematoma evacuation were performed. However, despite prompt identification and appropriate action, the patient's recovery was modest and significant disability remained at discharge. This unique and unusual case demonstrates that spontaneous sSDH requires prompt surgical treatment to minimize associated morbidity and supports the association between the presence of severe neurological deficits upon initial presentation with less favorable outcomes. We performed a comprehensive systematic review of spontaneous sSDH of unknown etiology, which demonstrates that emergent surgical intervention is indicated for patients presenting with severe neurological deficits and the presence of these deficits is predictive of poor neurological outcome. Furthermore, conservative management should be considered in patients presenting with mild neurological deficits as spontaneous resolution followed by favorable neurological outcomes is often observed in these patients. PMID:29441210

A large outbreak of scombroid fish poisoning associated with eating yellowfin tuna (Thunnus albacares) at a military mass catering in Dakar, Senegal.

PubMed

Demoncheaux, J-P; Michel, R; Mazenot, C; Duflos, G; Iacini, C; de Laval, F; Delaval, F; Saware, E M; Renard, J-C

2012-06-01

On 26 November 2010, an outbreak of scombroid fish poisoning occurred in the French Armed Forces in Dakar, Senegal. This chemical intoxication, due to high histamine concentration in fish, is often mistaken for an allergic reaction. A case-control study was undertaken including the 71 cases and 78 randomly selected controls among lunch attendees. The usual symptoms for scombroid fish poisoning were observed in cases, i.e. flushing (85.9%), headache (83.1%), rapid/weak pulse (59.1%) and diarrhoea (47.9%). Symptoms occurred from within a few minutes to up to 3 h following the meal. Most patients quickly recovered with antihistamine and/or symptomatic treatment. Tuna was the only food item positively associated with illness (odds ratio 36.3, 95% confidence interval 6.3-210.0), with the risk of illness increasing with the quantity of fish consumed. No bacterial contamination was found in leftover food, but histamine concentration in tuna was found to be 4900 mg/kg, almost 50-fold higher than the concentration allowed by European regulations. This report is unique because of the large size of the case series - to our knowledge, the largest event of scombroid fish poisoning ever reported - and the chemical and bacteriological analyses results obtained on leftover food.

Sufficient conditions for uniqueness of the weak value

NASA Astrophysics Data System (ADS)

Dressel, J.; Jordan, A. N.

2012-01-01

We review and clarify the sufficient conditions for uniquely defining the generalized weak value as the weak limit of a conditioned average using the contextual values formalism introduced in Dressel, Agarwal and Jordan (2010 Phys. Rev. Lett. 104 240401). We also respond to criticism of our work by Parrott (arXiv:1105.4188v1) concerning a proposed counter-example to the uniqueness of the definition of the generalized weak value. The counter-example does not satisfy our prescription in the case of an underspecified measurement context. We show that when the contextual values formalism is properly applied to this example, a natural interpretation of the measurement emerges and the unique definition in the weak limit holds. We also prove a theorem regarding the uniqueness of the definition under our sufficient conditions for the general case. Finally, a second proposed counter-example by Parrott (arXiv:1105.4188v6) is shown not to satisfy the sufficiency conditions for the provided theorem.

Paired-Associate Learning Ability Accounts for Unique Variance in Orthographic Learning

ERIC Educational Resources Information Center

Wang, Hua-Chen; Wass, Malin; Castles, Anne

2017-01-01

Paired-associate learning is a dynamic measure of the ability to form new links between two items. This study aimed to investigate whether paired-associate learning ability is associated with success in orthographic learning, and if so, whether it accounts for unique variance beyond phonological decoding ability and orthographic knowledge. A group…

Addressing trend-related changes within cumulative effects studies in water resources planning

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

Canter, L.W., E-mail: envimptr@aol.com; Chawla, M.K.; Swor, C.T.

2014-01-15

Summarized herein are 28 case studies wherein trend-related causative physical, social, or institutional changes were connected to consequential changes in runoff, water quality, and riparian and aquatic ecological features. The reviewed cases were systematically evaluated relative to their identified environmental effects; usage of analytical frameworks, and appropriate models, methods, and technologies; and the attention given to mitigation and/or management of the resultant causative and consequential changes. These changes also represent important considerations in project design and operation, and in cumulative effects studies associated therewith. The cases were grouped into five categories: institutional changes associated with legislation and policies (seven cases);more » physical changes from land use changes in urbanizing watersheds (eight cases); physical changes from land use changes and development projects in watersheds (four cases); physical, institutional, and social changes from land use and related policy changes in river basins (three cases); and multiple changes within a comprehensive study of land use and policy changes in the Willamette River Basin in Oregon (six cases). A tabulation of 110 models, methods and technologies used in the studies is also presented. General observations from this review were that the features were unique for each case; the consequential changes were logically based on the causative changes; the analytical frameworks provided relevant structures for the studies, and the identified methods and technologies were pertinent for addressing both the causative and consequential changes. One key lesson was that the cases provide useful, “real-world” illustrations of the importance of addressing trend-related changes in cumulative effects studies within water resources planning. Accordingly, they could be used as an “initial tool kit” for addressing trend-related changes.« less

Identification of Entamoeba polecki with Unique 18S rRNA Gene Sequences from Celebes Crested Macaques and Pigs in Tangkoko Nature Reserve, North Sulawesi, Indonesia.

PubMed

Tuda, Josef; Feng, Meng; Imada, Mihoko; Kobayashi, Seiki; Cheng, Xunjia; Tachibana, Hiroshi

2016-09-01

Unique species of macaques are distributed across Sulawesi Island, Indonesia, and the details of Entamoeba infections in these macaques are unknown. A total of 77 stool samples from Celebes crested macaques (Macaca nigra) and 14 stool samples from pigs were collected in Tangkoko Nature Reserve, North Sulawesi, and the prevalence of Entamoeba infection was examined by PCR. Entamoeba polecki was detected in 97% of the macaques and all of the pigs, but no other Entamoeba species were found. The nucleotide sequence of the 18S rRNA gene in E. polecki from M. nigra was unique and showed highest similarity with E. polecki subtype (ST) 4. This is the first case of identification of E. polecki ST4 from wild nonhuman primates. The sequence of the 18S rRNA gene in E. polecki from pigs was also unique and showed highest similarity with E. polecki ST1. These results suggest that the diversity of the 18S rRNA gene in E. polecki is associated with differences in host species and geographic localization, and that there has been no transmission of E. polecki between macaques and pigs in the study area. © 2016 The Author(s) Journal of Eukaryotic Microbiology © 2016 International Society of Protistologists.

Systematic Review of Falls in Older Adults with Cancer

PubMed Central

Wildes, Tanya M; Dua, Priya; Fowler, Susan A.; Miller, J. Philip; Carpenter, Christopher R.; Avidan, Michael S.; Stark, Susan

2014-01-01

Objectives lder adults frequently experience falls, at great cost to themselves and society. Older adults with cancer may be at greater risk for falls and have unique risk factors. Materials and Methods We undertook a systematic review of the available medical literature to examine the current evidence regarding factors associated with falls in older adults with cancer. PubMed, Embase, CINAHL, CENTRAL, DARE, Cochrane Database of Systematic Reviews and clinical trials.gov were searched using standardized terms for concepts of oncology/cancer, people 60 and older, screening, falls and diagnosis. Eligible studies included cohort or case-control studies or clinical trials in which all patients, or a subgroup of patients, had a diagnosis of cancer and in which falls were either the primary or secondary outcome. Results We identified 31 studies that met our inclusion criteria. Several studies suggest that falls are more common in older adults with a diagnosis of cancer than those without. Among the 11 studies that explored factors associated with outpatient falls, some risk factors for falls established in the general population were also associated with falls in older adults with cancer, including dependence in activities of daily living and prior falls. Other factors associated with falls in a general population, such as age, polypharmacy and opioid use, were not predictive of falls among oncology populations. Falls among older adults with cancer in the inpatient setting were associated with established risk factors for falls in people without cancer, but also with factors unique to an oncology population, such as brain metastases. Conclusions Falls in older adults with cancer are more common than in the general population, and are associated with risk factors unique to people with cancer. Further study is needed to establish methods of screening older adults with cancer for fall risk and ultimately implement interventions to reduce their risk of falls. Identifying which older adults with cancer are at greater risk for falls is a requisite step to ultimately intervene and prevent falls in this vulnerable population. PMID:25454770

Association of the Colorectal CpG Island Methylator Phenotype with molecular features, risk factors and family history

PubMed Central

Long, Tiffany I.; Buchanan, Daniel D.; Walters, Rhiannon; Clendenning, Mark; Rosty, Christophe; Joshi, Amit D.; Stern, Mariana C.; LeMarchand, Loic; Lindor, Noralane M.; Daftary, Darshana; Gallinger, Steven; Selander, Teresa; Bapat, Bharati; Newcomb, Polly A.; Campbell, Peter T.; Casey, Graham; Ahnen, Dennis J.; Baron, John A.; Haile, Robert W.; Hopper, John L.; Young, Joanne P.; Laird, Peter W.; Siegmund, Kimberly D.

2015-01-01

Background The CpG Island Methylator Phenotype (CIMP) represents a subset of colorectal cancers (CRCs) characterized by widespread aberrant DNA hypermethylation at select CpG islands. The risk factors and environmental exposures contributing to etiologic heterogeneity between CIMP and non-CIMP tumors are not known. Methods We measured the CIMP status of 3,119 primary population-based CRC tumors from the multinational Colon Cancer Family Registry. Etiologic heterogeneity was assessed by a case-case study comparing risk factor frequency of CRC cases with CIMP and non-CIMP tumors using logistic regression to estimate the case-case odds ratio (ccOR). Results We found associations between tumor CIMP status and MSI-H (ccOR=7.6), BRAF V600E mutation (ccOR=59.8), proximal tumor site (ccOR=9) (all p<0.0001), female sex (ccOR=1.8; 95% CI=1.5-2.1), older age (ccOR=4.0 comparing over 70 years vs under 50; 95% CI=3.0-5.5) and family history of CRC (ccOR=0.6, 95% CI=0.5-0.7). While use of NSAIDs varied by tumor CIMP status for both males and females (p=0.0001 and p=0.02, respectively), use of multi-vitamin or calcium supplements did not. Only for female CRCs was CIMP status associated with increased pack-years of smoking (trend p < 0.001) and body mass index (BMI) (trend p = 0.03). Conclusions The frequency of several CRC risk factors varied by CIMP status, and the associations of smoking and obesity with tumor subtype were evident only for females. Impact Differences in the associations of a unique DNA methylation-based subgroup of CRC with important lifestyle and environmental exposures increase understanding of the molecular pathologic epidemiology of this heavily methylated subset of CRCs. PMID:25587051

A paraneoplastic manifestation of metastatic breast cancer responding to endocrine therapy: a case report

PubMed Central

Wood, Joanna P; Haynes, Andrew P; Cheung, KL

2008-01-01

Background Many cancers are known to be associated with paraneoplastic syndromes. These syndromes are usually treated by chemotherapy with or without immunosupression but they often respond poorly. There are no published reviews on response to endocrine treatment. Case presentation We report a case of a patient presenting with papillitis, myositis and sensory peripheral neuropathy 18 months before a diagnosis of metastatic oestrogen receptor positive breast cancer was confirmed. The patient was treated with anastrozole which led not only to a decrease of her tumour burden but also to an improvement in her biochemical markers and amelioration of her clinical symptoms. Conclusion This case is an example of breast cancer presenting with paraneoplastic manifestations. It took several months to establish the cause of symptoms in this patient thus illustrating the need for physicians to maintain a high index of suspicion for paraneoplastic syndromes in women presenting with unusual neurological symptoms with no obvious cause. It is a unique case as it illustrates how treatment with an aromatase inhibitor leading to cancer regression can result in an improvement in the paraneoplastic symptoms. PMID:19087318

Calvarial bone cavernous hemangioma with intradural invasion: An unusual aggressive course—Case report and literature review

PubMed Central

Nasi, Davide; Somma, Lucia di; Iacoangeli, Maurizio; Liverotti, Valentina; Zizzi, Antonio; Dobran, Mauro; Gladi, Maurizio; Scerrati, Massimo

2016-01-01

Introduction Cavernous hemangioma of the skull is a rare pathological diagnosis, accounting for 0.2% of bone tumors and 7% of skull tumors. Usually calvarial bone cavernous hemangioma are associated with a benign clinical course and, despite their enlargement and subsequent erosion of the surrounding bone, the inner table of the skull remains intact and the lesion is completely extracranial. Presentation of a case The authors present the unique case of a huge left frontal bone cavernous malformation with intradural extension and brain compression determining a right hemiparesis. Discussion Calvarial cavernous hemangiomas are benign tumors. They arise from vessels in the diploic space and tend to involve the outer table of the skull with relative sparing of the inner table. More extensive involvement of the inner table and extradural space is very unusual and few cases are reported in literature. To the best of our knowledge, intradural invasion of calvarial hemangioma has not been previously reported. Conclusion Our case highlights the possibility of an aggressive course of this rare benign pathology. PMID:27061482

Excluded segmental duct bile leakage: the case for bilio-enteric anastomosis.

PubMed

Patrono, Damiano; Tandoi, Francesco; Romagnoli, Renato; Salizzoni, Mauro

2014-06-01

Excluded segmental duct bile leak is the rarest type of post-hepatectomy bile leak and presents unique diagnostic and management features. Classical management strategies invariably entail a significant loss of functioning hepatic parenchyma. The aim of this study is to report a new liver-sparing technique to handle excluded segmental duct bile leakage. Two cases of excluded segmental duct bile leak occurring after major hepatic resection were managed by a Roux-en-Y hepatico-jejunostomy on the excluded segmental duct, avoiding the sacrifice of the liver parenchyma origin of the fistula. In both cases, classical management strategies would have led to the functional loss of roughly 50 % of the liver remnant. Diagnostic and management implications are thoroughly discussed. Both cases had an uneventful postoperative course. The timing of repair was associated with a different outcome: the patient who underwent surgical repair in the acute phase developed no long-term complications, whereas the patient who underwent delayed repair developed a late stenosis requiring percutaneous dilatation. Roux-en-Y hepatico-jejunostomy on the excluded bile duct is a valuable technique in selected cases of excluded segmental duct bile leakage.

Terminal deoxynucleotidyl transferase (TdT)-negative T-cell lymphoblastic lymphoma with loss of the T-cell lineage-specific marker CD3 at relapse: a rare entity with an aggressive outcome.

PubMed

Hassan, Masroor; Abdullah, Hafez Mohammad Ammar; Wahid, Abdul; Qamar, Muhammad Ashraf

2018-06-08

Terminal deoxynucleotidyl transferase (TdT)-negative T-cell lymphoblastic lymphoma is a variant of T-cell lymphoblastic lymphoma/T-cell lymphoblastic leukaemia. TdT is a marker of immaturity expressed in 90%-95% cases of lymphoblastic lymphoma and useful in differentiating it from other mature lymphomas/leukaemias. It has been associated with poorer response to chemotherapy and a more aggressive outcome. Here we present a case of TdT-negative T-cell lymphoblastic lymphoma in a 28-year-old man who presented with superior vena cava syndrome. The patient was treated with hyper-cyclophosphamide,vincristine, Adriamycin, dexamethasone (CVAD), however unfortunately suffered a relapse 1 year later. A unique feature of our case was that on relapse, the patient lost expression of the T-cell lineage-specific marker CD3, which has previously not been reported in association with TdT-negative T-cell lymphoblastic lymphoma. The patient failed to respond to chemotherapy on his relapse and died. © BMJ Publishing Group Ltd (unless otherwise stated in the text of the article) 2018. All rights reserved. No commercial use is permitted unless otherwise expressly granted.

Tattoo-associated uveitis with or without systemic sarcoidosis: a comparative review of the literature.

PubMed

Kluger, N

2018-05-15

Sarcoidosis is a systemic disease of unknown aetiology characterized by the presence of non-caseating epithelioid cell granulomas in multiple organs, mainly the lungs and the lymphatic system. It is also one of the leading cause of inflammatory eye diseases. For the past 70 years, sarcoidal granulomas on tattoos and permanent make-up have been documented. They can be the first and sometimes unique cutaneous manifestation of systemic sarcoidosis. A few cases of sarcoidosis with uveitis and granulomatous reactions within tattoos have been described. However, since the end 60s, a singular entity has been reported associating isolated uveitis with granulomatous cutaneous reaction restricted to tattoos in the notable absence of systemic sarcoidosis. It remains unclear whether this entity must be distinguished from sarcoidosis. This review summarizes the currently available data on this topic and compares cases of sarcoidosis with granulomatous tattoo reaction and uveitis to the cases without notable sarcoidosis. We propose the acronym TAGU (TAttoo Granulomas with Uveitis) as an exclusion diagnosis that emcompasses the patients for whom we fail to find any sarcoidosis or other causes after extensive investigation. © 2018 European Academy of Dermatology and Venereology.

Posterior polar cataract: A review

PubMed Central

Kalantan, Hatem

2011-01-01

Posterior polar cataract is a rare form of congenital cataract. It is usually inherited as an autosomal dominant disease, yet it can be sporadic. Five genes have been attributed to the formation of this disease. It is highly associated with complications during surgery, such as posterior capsule rupture and nucleus drop. The reason for this high complication rate is the strong adherence of the opacity to the weak posterior capsule. Different surgical strategies were described for the handling of this challenging entity, most of which emphasized the need for gentle maneuvering in dealing with these cases. It has a unique clinical appearance that should not be missed in order to anticipate, avoid, and minimize the impact of the complications associated with it. PMID:23960967

The straight line hypothesis elaborated: case reference obesity, an argument for acidosis, oxidative stress, and disease conglomeration?

PubMed

Berkemeyer, Shoma

2010-07-01

Studies report on the association between obesity and oxidative stress, with and without additional diseases. Macrophages in adipocytes, and hypoxia in adipose tissue have been suggested to explain how obesity can relate to oxidative stress. The straight line hypothesis using the lactic acid trap construct has been put forward to explain how proton imbalance can relate to obesity. Proton imbalance has been also reported to associate with the production of reactive oxygen species by inhibition of mitochondrial energy production. This review brings together existing literature and concepts to explain how obesity can relate to oxidative stress via protons, uniquely for itself or, as often observed, in conglomeration of additional diseases. Copyright 2010 Elsevier Ltd. All rights reserved.

Papillary carcinoma occurring within an adenomatous goiter of the thyroid gland in Cowden's disease.

PubMed

Kameyama, K; Takami, H; Miyajima, K; Mimura, T; Hosoda, Y; Ito, K; Ito, K

2001-01-01

Cowden's disease is an autosomal dominant disorder characterized by multiple benign and malignant neoplastic lesions involving many organs. The presence of characteristic cutaneous lesions is crucial for the diagnosis. Thyroid disease is a major extracutaneous manifestation of this disease; however, the histologic characteristics have not been described in detail. We report a case of thyroid tumor associated with Cowden's disease. Grossly, the tumor showed a multinodular appearance, like an adenomatous goiter. Microscopically, it consisted of follicular adenomas with a trabecular pattern. Some of the nodules had a second component resembling papillary carcinoma. This was thought to be a unique histological feature not described previously, and might be specific to thyroid tumor associated with Cowden's disease.

Multicystic dysplasia in one-half of a horseshoe kidney with megaureter and lower ureteric atresia.

PubMed

Sripathi, V

2002-12-01

During evaluation of chronic abdominal pain, a 9-year-old male was found to have a horseshoe kidney (HSK) with multicystic dysplasia (MCD) of the left-sided component. Attached to the MCD was a very large, tortuous ureter occupying almost the whole left side of the abdomen. This ureter on dissection was found to end blindly adjacent to the bladder. MCD of one-half of a HSK is an unusual lesion. Its association with a large megaureter with juxtavesical atresia is a unique event. In HSKs, controversy exists about the need to remove a small dysplastic segment. If this segment is associated with a large ureter, as in our case, removal is mandatory in order to avoid pain and infection.

Uniqueness of solutions for a mathematical model for magneto-viscoelastic flows

NASA Astrophysics Data System (ADS)

Schlömerkemper, A.; Žabenský, J.

2018-06-01

We investigate uniqueness of weak solutions for a system of partial differential equations capturing behavior of magnetoelastic materials. This system couples the Navier–Stokes equations with evolutionary equations for the deformation gradient and for the magnetization obtained from a special case of the micromagnetic energy. It turns out that the conditions on uniqueness coincide with those for the well-known Navier–Stokes equations in bounded domains: weak solutions are unique in two spatial dimensions, and weak solutions satisfying the Prodi–Serrin conditions are unique among all weak solutions in three dimensions. That is, we obtain the so-called weak-strong uniqueness result in three spatial dimensions.

Genome-wide common and rare variant analysis provides novel insights into clozapine-associated neutropenia.

PubMed

Legge, S E; Hamshere, M L; Ripke, S; Pardinas, A F; Goldstein, J I; Rees, E; Richards, A L; Leonenko, G; Jorskog, L F; Chambert, K D; Collier, D A; Genovese, G; Giegling, I; Holmans, P; Jonasdottir, A; Kirov, G; McCarroll, S A; MacCabe, J H; Mantripragada, K; Moran, J L; Neale, B M; Stefansson, H; Rujescu, D; Daly, M J; Sullivan, P F; Owen, M J; O'Donovan, M C; Walters, J T R

2017-10-01

The antipsychotic clozapine is uniquely effective in the management of schizophrenia; however, its use is limited by its potential to induce agranulocytosis. The causes of this, and of its precursor neutropenia, are largely unknown, although genetic factors have an important role. We sought risk alleles for clozapine-associated neutropenia in a sample of 66 cases and 5583 clozapine-treated controls, through a genome-wide association study (GWAS), imputed human leukocyte antigen (HLA) alleles, exome array and copy-number variation (CNV) analyses. We then combined associated variants in a meta-analysis with data from the Clozapine-Induced Agranulocytosis Consortium (up to 163 cases and 7970 controls). In the largest combined sample to date, we identified a novel association with rs149104283 (odds ratio (OR)=4.32, P=1.79 × 10 -8 ), intronic to transcripts of SLCO1B3 and SLCO1B7, members of a family of hepatic transporter genes previously implicated in adverse drug reactions including simvastatin-induced myopathy and docetaxel-induced neutropenia. Exome array analysis identified gene-wide associations of uncommon non-synonymous variants within UBAP2 and STARD9. We additionally provide independent replication of a previously identified variant in HLA-DQB1 (OR=15.6, P=0.015, positive predictive value=35.1%). These results implicate biological pathways through which clozapine may act to cause this serious adverse effect.

Genome-wide common and rare variant analysis provides novel insights into clozapine-associated neutropenia

PubMed Central

Legge, S E; Hamshere, M L; Ripke, S; Pardinas, A F; Goldstein, J I; Rees, E; Richards, A L; Leonenko, G; Jorskog, L F; Goldstein, Jacqueline I; Jarskog, L Fredrik; Hilliard, Chris; Alfirevic, Ana; Duncan, Laramie; Fourches, Denis; Huang, Hailiang; Lek, Monkol; Neale, Benjamin M; Ripke, Stephan; Shianna, Kevin; Szatkiewicz, Jin P; Tropsha, Alexander; van den Oord, Edwin JCG; Cascorbi, Ingolf; Dettling, Michael; Gazit, Ephraim; Goff, Donald C; Holden, Arthur L; Kelly, Deanna L; Malhotra, Anil K; Nielsen, Jimmi; Pirmohamed, Munir; Rujescu, Dan; Werge, Thomas; Levy, Deborah L; Josiassen, Richard C; Kennedy, James L; Lieberman, Jeffrey A; Daly, Mark J; Sullivan, Patrick F; Chambert, K D; Collier, D A; Genovese, G; Giegling, I; Holmans, P; Jonasdottir, A; Kirov, G; McCarroll, S A; MacCabe, J H; Mantripragada, K; Moran, J L; Neale, B M; Stefansson, H; Rujescu, D; Daly, M J; Sullivan, P F; Owen, M J; O'Donovan, M C; Walters, J T R

2017-01-01

The antipsychotic clozapine is uniquely effective in the management of schizophrenia; however, its use is limited by its potential to induce agranulocytosis. The causes of this, and of its precursor neutropenia, are largely unknown, although genetic factors have an important role. We sought risk alleles for clozapine-associated neutropenia in a sample of 66 cases and 5583 clozapine-treated controls, through a genome-wide association study (GWAS), imputed human leukocyte antigen (HLA) alleles, exome array and copy-number variation (CNV) analyses. We then combined associated variants in a meta-analysis with data from the Clozapine-Induced Agranulocytosis Consortium (up to 163 cases and 7970 controls). In the largest combined sample to date, we identified a novel association with rs149104283 (odds ratio (OR)=4.32, P=1.79 × 10−8), intronic to transcripts of SLCO1B3 and SLCO1B7, members of a family of hepatic transporter genes previously implicated in adverse drug reactions including simvastatin-induced myopathy and docetaxel-induced neutropenia. Exome array analysis identified gene-wide associations of uncommon non-synonymous variants within UBAP2 and STARD9. We additionally provide independent replication of a previously identified variant in HLA-DQB1 (OR=15.6, P=0.015, positive predictive value=35.1%). These results implicate biological pathways through which clozapine may act to cause this serious adverse effect. PMID:27400856

Unique Problems in Prosecuting Child Abuse Cases Overseas

DTIC Science & Technology

1991-04-01

This thesis examines the unique problems present in prosecuting military family child abuse cases in the Republic of Korea (ROK). Research has shown...that military families overseas tend to have higher levels of stress, hence they tend to be more prone to violence. Child abuse statistics bear this...out. The thesis postulates that the reason why the identification, treatment, and prosecution of child abuse is more difficult in the ROK is partially

Growing skull hemangioma: first and unique description in a patient with Klippel-Trénaunay-Weber syndrome.

PubMed

van der Loo, Lars E; Beckervordersandforth, Jan; Colon, Albert J; Schijns, Olaf E M G

2017-02-01

We present the first and unique case of a rapid-growing skull hemangioma in a patient with Klippel-Trénaunay-Weber syndrome. This case report provides evidence that not all rapid-growing, osteolytic skull lesions need to have a malignant character but certainly need a histopathological verification. This material offers insight into the list of rare pathological diagnoses in an infrequent syndrome.

Nonaggressive systemic mastocytosis (SM) without skin lesions associated with insect-induced anaphylaxis shows unique features versus other indolent SM.

PubMed

Alvarez-Twose, Iván; Zanotti, Roberta; González-de-Olano, David; Bonadonna, Patrizia; Vega, Arantza; Matito, Almudena; Sánchez-Muñoz, Laura; Morgado, José Mário; Perbellini, Omar; García-Montero, Andrés; De Matteis, Giovanna; Teodósio, Cristina; Rossini, Maurizio; Jara-Acevedo, María; Schena, Donatella; Mayado, Andrea; Zamò, Alberto; Mollejo, Manuela; Sánchez-López, Paula; Cabañes, Nieves; Orfao, Alberto; Escribano, Luis

2014-02-01

Indolent systemic mastocytosis (ISM) without skin lesions (ISMs(-)) shows a higher prevalence in males, lower serum baseline tryptase levels, and KIT mutation more frequently restricted to bone marrow (BM) mast cells (MCs) than ISM with skin lesions (ISMs(+)). Interestingly, in almost one-half of ISMs(-) patients, MC-mediator release episodes are triggered exclusively by insects. We aimed to determine the clinical and laboratory features of ISMs(-) associated with insect-induced anaphylaxis (insectISMs(-)) versus other patients with ISM. A total of 335 patients presenting with MC activation syndrome, including 143 insectISMs(-), 72 ISMs(-) triggered by other factors (otherISMs(-)), 56 ISMs(+), and 64 nonclonal MC activation syndrome, were studied. Compared with otherISMs(-) and ISMs(+) patients, insectISMs(-) cases showed marked male predominance (78% vs 53% and 46%; P < .001), a distinct pattern of MC-related symptoms, and significantly lower median serum baseline tryptase levels (22.4 vs 28.7 and 45.8 μg/L; P ≤ .009). Moreover, insectISMs(-) less frequently presented BM MC aggregates (46% vs 70% and 81%; P ≤ .001), and they systematically showed MC-restricted KIT mutation. ISMs(-) patients with anaphylaxis triggered exclusively by insects display clinical and laboratory features that are significantly different from other ISM cases, including other ISMs(-) and ISMs(+) patients, suggesting that they represent a unique subgroup of ISM with a particularly low BM MC burden in the absence of adverse prognostic factors. Copyright © 2013 American Academy of Allergy, Asthma & Immunology. Published by Mosby, Inc. All rights reserved.

Meridional lenticular astigmatism associated with bilateral concurrent uveal metastases in renal cell carcinoma

PubMed Central

Priluck, Joshua C; Grover, Sandeep; Chalam, KV

2012-01-01

Purpose To demonstrate a case illustrating meridional lenticular astigmatism as a result of renal cell carcinoma uveal metastases. Methods Case report with images. Results Clinical findings and diagnostic testing of a patient with acquired meridional lenticular astigmatism are described. The refraction revealed best-corrected visual acuity of 20/20–1 OD (−2.50 + 0.25 × 090) and 20/50 OS (−8.25 + 3.25 × 075). Bilateral concurrent renal cell carcinoma metastases to the choroid and ciliary body are demonstrated by utilizing ultrasonography, ultrawidefield fluorescein angiography, and unique spectral-domain optical coherence tomography. Conclusions Metastatic disease should be included in the differential of acquired astigmatism. Spectral-domain optical coherence tomography, ultrawidefield fluorescein angiography, and ultrasonography have roles in delineating choroidal metastases. PMID:23152663

Relapsing remitting multiple sclerosis in x-linked charcot-marie-tooth disease with central nervous system involvement.

PubMed

Koutsis, Georgios; Karadima, Georgia; Floroskoufi, Paraskewi; Raftopoulou, Maria; Panas, Marios

2015-01-01

We report a patient with relapsing remitting multiple sclerosis (MS) and X-linked Charcot-Marie-Tooth disease (CMTX), carrying a GJB1 mutation affecting connexin-32 (c.191G>A, p. Cys64Tyr) which was recently reported by our group. This is the third case report of a patient with CMTX developing MS, but it is unique in the fact that other family members carrying the same mutation were found to have asymptomatic central nervous system (CNS) involvement (diffuse white matter hyperintensity on brain MRI and extensor plantars). Although this may be a chance association, the increasing number of cases with CMTX and MS, especially with mutations involving the CNS, may imply some causative effect and provide insights into MS pathogenesis.

Relapsing Remitting Multiple Sclerosis in X-Linked Charcot-Marie-Tooth Disease with Central Nervous System Involvement

PubMed Central

Karadima, Georgia; Floroskoufi, Paraskewi; Raftopoulou, Maria; Panas, Marios

2015-01-01

We report a patient with relapsing remitting multiple sclerosis (MS) and X-linked Charcot-Marie-Tooth disease (CMTX), carrying a GJB1 mutation affecting connexin-32 (c.191G>A, p. Cys64Tyr) which was recently reported by our group. This is the third case report of a patient with CMTX developing MS, but it is unique in the fact that other family members carrying the same mutation were found to have asymptomatic central nervous system (CNS) involvement (diffuse white matter hyperintensity on brain MRI and extensor plantars). Although this may be a chance association, the increasing number of cases with CMTX and MS, especially with mutations involving the CNS, may imply some causative effect and provide insights into MS pathogenesis. PMID:25883816

Simultaneous presentation of acute disseminated encephalomyelitis (ADEM) and systemic lupus erythematosus (SLE) after enteroviral infection: can ADEM present as the first manifestation of SLE?

PubMed

Kim, J-M; Son, C-N; Chang, H W; Kim, S-H

2015-05-01

Central Nervous System (CNS) involvement of Systemic Lupus Erythematosus (SLE) includes a broad range of neuropsychiatric syndromes. Acute Disseminated Encephalomyelitis (ADEM) is a demyelinating CNS disorder characterized by encephalopathy and multifocal lesions predominantly involving the white matter on brain magnetic resonance imaging. ADEM associated with SLE has been only rarely reported. We report an unusual case of a 17-year-old girl who developed ADEM after enteroviral infection as the first manifestation of SLE. The authors emphasize that the patient's illness was preceded by enteroviral infection and that ADEM occurred before any other symptoms of SLE, which makes this case unique. © The Author(s) 2014 Reprints and permissions: sagepub.co.uk/journalsPermissions.nav.

Using principal component analysis to capture individual differences within a unified neuropsychological model of chronic post-stroke aphasia: Revealing the unique neural correlates of speech fluency, phonology and semantics.

PubMed

Halai, Ajay D; Woollams, Anna M; Lambon Ralph, Matthew A

2017-01-01

Individual differences in the performance profiles of neuropsychologically-impaired patients are pervasive yet there is still no resolution on the best way to model and account for the variation in their behavioural impairments and the associated neural correlates. To date, researchers have generally taken one of three different approaches: a single-case study methodology in which each case is considered separately; a case-series design in which all individual patients from a small coherent group are examined and directly compared; or, group studies, in which a sample of cases are investigated as one group with the assumption that they are drawn from a homogenous category and that performance differences are of no interest. In recent research, we have developed a complementary alternative through the use of principal component analysis (PCA) of individual data from large patient cohorts. This data-driven approach not only generates a single unified model for the group as a whole (expressed in terms of the emergent principal components) but is also able to capture the individual differences between patients (in terms of their relative positions along the principal behavioural axes). We demonstrate the use of this approach by considering speech fluency, phonology and semantics in aphasia diagnosis and classification, as well as their unique neural correlates. PCA of the behavioural data from 31 patients with chronic post-stroke aphasia resulted in four statistically-independent behavioural components reflecting phonological, semantic, executive-cognitive and fluency abilities. Even after accounting for lesion volume, entering the four behavioural components simultaneously into a voxel-based correlational methodology (VBCM) analysis revealed that speech fluency (speech quanta) was uniquely correlated with left motor cortex and underlying white matter (including the anterior section of the arcuate fasciculus and the frontal aslant tract), phonological skills with regions in the superior temporal gyrus and pars opercularis, and semantics with the anterior temporal stem. Copyright © 2016 The Author(s). Published by Elsevier Ltd.. All rights reserved.

Anterior Urethral Valve: A Rare But an Important Cause of Infravesical Urinary Tract Obstruction.

PubMed

Parmar, Jitendra P; Mohan, Chander; Vora, Maulik P

2016-01-01

Urethral valves are infravesical congenital anomalies, with the posterior urethral valve (PUV) being the most prevalent one. Anterior urethral valve (AUV) is a rare but a well-known congenital anomaly. AUV and diverticula can cause severe obstruction, whose repercussions on the proximal urinary system can be important. Few cases have been described; both separately and in association with urethral diverticulum. The presentation of such a rare but important case led us to a report with highlighting its classic imaging features. We present a case report of AUV with lower urinary tract symptoms in a 6-year-old boy with complaints of a poor stream of urine and strain to void. Unique findings were seen on Retrograde Urethrography (RGU) and Voiding Cysto-Urethrography (VCUG), i.e. linear incomplete filling defect in the penile urethra and associated mild dilatation of the anterior urethra ending in a smooth bulge. On cysto-urethroscopy the anterior urethral valve was confirmed and fulguration was done. Congenital anterior urethral valve is an uncommon but important cause of infravesical lower urinary tract obstruction that is more common in male urethra. It can occur as an isolated AUV or in association with diverticulum and VATER anomalies. Early diagnosis and management of this rare condition is very important to prevent further damage, infection and vesicoureteral reflux. AUV may be associated with other congenital anomalies of the urinary system; therefore a full evaluation of the urinary system is essential.

Legionella pneumophila strain associated with the first evidence of person-to-person transmission of Legionnaires’ disease: a unique mosaic genetic backbone

PubMed Central

Borges, Vítor; Nunes, Alexandra; Sampaio, Daniel A.; Vieira, Luís; Machado, Jorge; Simões, Maria J.; Gonçalves, Paulo; Gomes, João P.

2016-01-01

A first strong evidence of person-to-person transmission of Legionnaires’ Disease (LD) was recently reported. Here, we characterize the genetic backbone of this case-related Legionella pneumophila strain (“PtVFX/2014”), which also caused a large outbreak of LD. PtVFX/2014 is phylogenetically divergent from the most worldwide studied outbreak-associated L. pneumophila subspecies pneumophila serogroup 1 strains. In fact, this strain is also from serogroup 1, but belongs to the L. pneumophila subspecies fraseri. Its genomic mosaic backbone reveals eight horizontally transferred regions encompassing genes, for instance, involved in lipopolysaccharide biosynthesis or encoding virulence-associated Dot/Icm type IVB secretion system (T4BSS) substrates. PtVFX/2014 also inherited a rare ~65 kb pathogenicity island carrying virulence factors and detoxifying enzymes believed to contribute to the emergence of best-fitted strains in water reservoirs and in human macrophages, as well as a inter-species transferred (from L. oakridgensis) ~37.5 kb genomic island (harboring a lvh/lvr T4ASS cluster) that had never been found intact within L. pneumophila species. PtVFX/2014 encodes another lvh/lvr cluster near to CRISPR-associated genes, which may boost L. pneumophila transition from an environmental bacterium to a human pathogen. Overall, this unique genomic make-up may impact PtVFX/2014 ability to adapt to diverse environments, and, ultimately, to be transmitted and cause human disease. PMID:27196677

The somatic POLE P286R mutation defines a unique subclass of colorectal cancer featuring hypermutation, representing a potential genomic biomarker for immunotherapy

PubMed Central

Kim, Jihun; Kim, Deokhoon; Chun, Sung-Min; Kim, Jiyun; Kim, Tae Won; Park, Inja; Yu, Chang-Sik; Jang, Se Jin

2016-01-01

Early-onset colorectal cancers (EOCRCs) may have biological or genomic features distinct from late-onset CRCs (LOCRCs). Previous studies have mostly focused on the germline predisposition conditions of EOCRCs, but we hypothesized that EOCRCs may have distinct somatic aberrations that accelerate cancer development. To identify the somatic aberrations that accelerate cancer development at an early age, we conducted whole exome sequencing for 28 polyposis-unrelated, microsatellite stable (MSS) EOCRCs with no known germline predisposition conditions. Surprisingly, we found two distinct groups in the context of mutational burden: 6 hypermutated cases with 2325 to 10973 mutations and 22 nonhypermutated cases with 47 to 154 mutations. Further analysis revealed that four of the six hypermutated cases had the same POLE P286R mutation. We validated this finding in 83 MSS EOCRCs and 27 MSS LOCRCs, which revealed that 7.2% of EOCRCs (6/83) had the POLE P286R mutation, which was not found in LOCRCs. Clinicopathologically, EOCRCs with POLE mutations occurred far more frequently in the right colon than in the left colon, affecting men more frequently than women. In summary, we have identified a unique subclass of colon cancer characterized by a hypermutation associated with the POLE mutation. The acquisition of the POLE mutation leading to hypermutation can accelerate cancer development. Clinically, this subset with hypermutation may be susceptible to immune checkpoint blockade. PMID:27612425

Children's and mothers' cardiovascular reactivity to a standardized laboratory stressor: Unique relations with maternal anxiety and overcontrol.

PubMed

Borelli, Jessica L; Burkhart, Margaret L; Rasmussen, Hannah F; Smiley, Patricia A; Hellemann, Gerhard

2018-04-01

Research documents bidirectional associations between parental overcontrol (OC) and children's anxiety; OC may place children at risk for anxiety and also may occur in response to children's requests for help. However, to date no studies have examined children's or parents' in-the-moment emotional responses to OC. Using a community sample of mothers and school-age children, we examine the individual and interactive influences of maternal OC, maternal anxiety, children's help-seeking, and children's anxiety in predicting physiological reactivity in response to a stressor faced by children and observed by mothers, predicting that for children of higher anxiety mothers, higher OC will be associated with increases in reactivity (decreases in respiratory sinus arrhythmia [RSA]), whereas for higher anxiety mothers themselves, engaging in OC will be associated with reductions in physiological reactivity (decreases in heart rate). Multilevel modeling suggested that for children of higher anxiety mothers, greater peak OC is associated with greater reductions in RSA (increases in reactivity) after the onset of OC. In contrast, for higher anxiety mothers themselves, greater peak OC was linked with attenuations in heart rate. Effects held when controlling for children's anxiety and help-seeking, and no pattern of effects was observed with analyses in which children's help-seeking was the predictor or children's anxiety was the moderator, suggesting that in this case, physiological reactivity is uniquely associated with the interaction between maternal OC and anxiety. Among mothers with higher anxiety, OC may serve a regulatory function, reducing physiological reactivity, while exacerbating children's reactivity. (PsycINFO Database Record (c) 2018 APA, all rights reserved).

Guerilla Warfare on the Pancreas? A Case of Acute Pancreatitis From a Supplement Known to Contain Anabolic-Androgenic Steroids.

PubMed

Liane, Billy-Joe; Magee, Charles

2016-10-01

Performance-enhancing drugs (PEDs) are commonly consumed in the United States with high prevalence of use in athlete populations and increased use by deployed service members. Many PEDs may contain anabolic-androgenic steroids (AAS), which are legally restricted and prohibited by many agencies due to their health risk. A unique case of acute pancreatitis associated with the use of the PED "Guerilla Warfare," a labeled AAS-containing supplement, is presented. The patient is a healthy 20-year-old male Marine who presented with multiple episodes of abdominal cramps each day for a month with decreased appetite and nonbilious vomiting. He reported a 6-week history of "Guerilla Warfare" PED use and review of systems identified fatigue and 12 lb reported weight loss. He presented with normal vital signs, tenderness in upper abdominal quadrants, elevated lipase (909 units/L), lactate dehydrogenase (193 units/L), and an enlarged pancreas with surrounding inflammation on computed tomography. This constitutes the first report of acute pancreatitis with the use of "Guerilla Warfare," and the second reported case with the use of any AAS-containing PED. Increased awareness of significant PED-associated adverse effects by both the civilian and military communities is needed to better characterize these risks moving forward. Reprint & Copyright © 2016 Association of Military Surgeons of the U.S.

Charged scalar perturbations on charged black holes in de Rham-Gabadadze-Tolley massive gravity

NASA Astrophysics Data System (ADS)

Burikham, Piyabut; Ponglertsakul, Supakchai; Tannukij, Lunchakorn

2017-12-01

We explore the quasistationary profile of a massive charged scalar field in a class of charged black holes in de Rham-Gabadadze-Tolley (dRGT) massive gravity. We discuss how the linear term in the metric, which is a unique character of the dRGT massive gravity, affects the structure of the spacetime. Numerical calculations of the quasinormal modes are performed for a charged scalar field in the dRGT black hole background. For an asymptotically de Sitter (dS) black hole, an improved asymptotic iteration method is used to obtain the associated quasinormal frequencies. The unstable modes are found for the ℓ=0 case, and their corresponding real parts satisfy the superradiant condition. For ℓ=2 , the results show that all the de Sitter black holes considered here are stable against a small perturbation. For an asymptotically dRGT anti-de Sitter (AdS) black hole, unstable modes are found with the frequency satisfying the superradiant condition. Effects of massive-gravity parameters are discussed. Analytic calculation reveals the unique diffusive nature of quasinormal modes in the massive-gravity model with the linear term. Numerical results confirm the existence of the characteristic diffusive modes in both the dS and AdS cases.

Imaging and Outcomes for a New Entity: Low-Grade Sinonasal Sarcoma with Neural and Myogenic Features.

PubMed

Cannon, Richard B; Wiggins, Richard H; Witt, Benjamin L; Dundar, Yusuf; Johnston, Tawni M; Hunt, Jason P

2017-01-01

Objectives  Low-grade sinonasal sarcoma with neural and myogenic features (LGSSNMF) is a new, rare tumor. Our goal is to describe the imaging characteristics and surgical outcomes of this unique skull base malignancy. Design  Retrospective case series. Setting  Academic medical center. Participants  There were three patients who met inclusion criteria with a confirmed LGSSNMF. Main Outcome Measures  Imaging and histopathological characteristics, treatments, survival and recurrence outcomes, complications, morbidity, and mortality. Results  Patients presented with diplopia, facial discomfort, a supraorbital mass, and nasal obstruction. Magnetic resonance imaging and computed tomography imaging in all cases showed an enhancing sinonasal mass with associated hyperostotic bone formation that involved the frontal sinus, invaded the lamina papyracea and anterior skull base, and had intracranial extension. One patient underwent a purely endoscopic surgical resection and the second underwent a craniofacial resection, while the last is pending treatment. All patients recovered well, without morbidity or long-term complications, and are currently without evidence of disease (mean follow-up of 2.1 years). One patient recurred after 17 months and underwent a repeat endoscopic skull base and dural resection. Conclusions  The surgical outcomes and imaging of this unique, locally aggressive skull base tumor are characterized.

Moyamoya syndrome in a patient with Noonan-like syndrome with loose anagen hair.

PubMed

Choi, Jin-Ho; Oh, Moon-Yeon; Yum, Mi-Sun; Lee, Beom Hee; Kim, Gu-Hwan; Yoo, Han-Wook

2015-03-01

Noonan-like syndrome with loose anagen hair is one of the RASopathies characterized by Noonan syndrome-like features with unique ectodermal abnormalities. This syndrome is caused by mutations in the SHOC2 gene. We encountered a patient with moyamoya syndrome associated with Noonan-like syndrome with loose anagen hair presenting with transient ischemic attacks. A 6-year-old girl was diagnosed with Noonan-like syndrome with loose anagen hair because of profound short stature and ectodermal anomalies such as sparse and easily pluckable hair. A heterozygous mutation of c.4A>G (p.S2G) in the SHOC2 gene was identified, and recombinant human growth hormone therapy was initiated at 8 years of age. At age 10, she manifested recurrent left hemiplegia. Moreover, cerebrovascular imaging revealed occlusion or narrowing of both internal carotid arteries and both middle cerebral arteries with distal moyamoya-like vessels. She is treated with aspirin and calcium channel blocker. We describe the first case of Noonan-like syndrome with loose anagen hair associated with moyamoya syndrome, although it has been reported to be associated with a few cases of other RASopathies, including Noonan, cardiofaciocutaneous, and Costello syndromes. This report emphasizes the associations between cerebrovascular anomalies and Noonan-like syndrome with loose anagen hair. Copyright © 2015 Elsevier Inc. All rights reserved.

Characterization of pathogenic SORL1 genetic variants for association with Alzheimer’s disease: a clinical interpretation strategy

PubMed Central

Holstege, Henne; van der Lee, Sven J; Hulsman, Marc; Wong, Tsz Hang; van Rooij, Jeroen GJ; Weiss, Marjan; Louwersheimer, Eva; Wolters, Frank J; Amin, Najaf; Uitterlinden, André G; Hofman, Albert; Ikram, M Arfan; van Swieten, John C; Meijers-Heijboer, Hanne; van der Flier, Wiesje M; Reinders, Marcel JT; van Duijn, Cornelia M; Scheltens, Philip

2017-01-01

Accumulating evidence suggests that genetic variants in the SORL1 gene are associated with Alzheimer disease (AD), but a strategy to identify which variants are pathogenic is lacking. In a discovery sample of 115 SORL1 variants detected in 1908 Dutch AD cases and controls, we identified the variant characteristics associated with SORL1 variant pathogenicity. Findings were replicated in an independent sample of 103 SORL1 variants detected in 3193 AD cases and controls. In a combined sample of the discovery and replication samples, comprising 181 unique SORL1 variants, we developed a strategy to classify SORL1 variants into five subtypes ranging from pathogenic to benign. We tested this pathogenicity screen in SORL1 variants reported in two independent published studies. SORL1 variant pathogenicity is defined by the Combined Annotation Dependent Depletion (CADD) score and the minor allele frequency (MAF) reported by the Exome Aggregation Consortium (ExAC) database. Variants predicted strongly damaging (CADD score >30), which are extremely rare (ExAC-MAF <1 × 10−5) increased AD risk by 12-fold (95% CI 4.2–34.3; P=5 × 10−9). Protein-truncating SORL1 mutations were all unknown to ExAC and occurred exclusively in AD cases. More common SORL1 variants (ExAC-MAF≥1 × 10−5) were not associated with increased AD risk, even when predicted strongly damaging. Findings were independent of gender and the APOE-ε4 allele. High-risk SORL1 variants were observed in a substantial proportion of the AD cases analyzed (2%). Based on their effect size, we propose to consider high-risk SORL1 variants next to variants in APOE, PSEN1, PSEN2 and APP for personalized risk assessments in clinical practice. PMID:28537274

Post-Conflict Returnee Reintegration: A Case Study of South Sudan and the Livelihood Approach

DTIC Science & Technology

2013-09-01

Gabaudan argues for the need of relief agencies to bridge this humanitarian and development gap .2 While South Sudan is not a unique case highlighting a...state suffering from a refugee and IDP crisis, every crisis is unique and may yield valuable lessons. The consequences of war have been profound for...research does, however, provides an opportunity to analyze the dynamics of refugee assistance as they unfold, highlighting the gap between providing short

Identification of Inherited Retinal Disease-Associated Genetic Variants in 11 Candidate Genes.

PubMed

Astuti, Galuh D N; van den Born, L Ingeborgh; Khan, M Imran; Hamel, Christian P; Bocquet, Béatrice; Manes, Gaël; Quinodoz, Mathieu; Ali, Manir; Toomes, Carmel; McKibbin, Martin; El-Asrag, Mohammed E; Haer-Wigman, Lonneke; Inglehearn, Chris F; Black, Graeme C M; Hoyng, Carel B; Cremers, Frans P M; Roosing, Susanne

2018-01-10

Inherited retinal diseases (IRDs) display an enormous genetic heterogeneity. Whole exome sequencing (WES) recently identified genes that were mutated in a small proportion of IRD cases. Consequently, finding a second case or family carrying pathogenic variants in the same candidate gene often is challenging. In this study, we searched for novel candidate IRD gene-associated variants in isolated IRD families, assessed their causality, and searched for novel genotype-phenotype correlations. Whole exome sequencing was performed in 11 probands affected with IRDs. Homozygosity mapping data was available for five cases. Variants with minor allele frequencies ≤ 0.5% in public databases were selected as candidate disease-causing variants. These variants were ranked based on their: (a) presence in a gene that was previously implicated in IRD; (b) minor allele frequency in the Exome Aggregation Consortium database (ExAC); (c) in silico pathogenicity assessment using the combined annotation dependent depletion (CADD) score; and (d) interaction of the corresponding protein with known IRD-associated proteins. Twelve unique variants were found in 11 different genes in 11 IRD probands. Novel autosomal recessive and dominant inheritance patterns were found for variants in Small Nuclear Ribonucleoprotein U5 Subunit 200 ( SNRNP200 ) and Zinc Finger Protein 513 ( ZNF513 ), respectively. Using our pathogenicity assessment, a variant in DEAH-Box Helicase 32 ( DHX32 ) was the top ranked novel candidate gene to be associated with IRDs, followed by eight medium and lower ranked candidate genes. The identification of candidate disease-associated sequence variants in 11 single families underscores the notion that the previously identified IRD-associated genes collectively carry > 90% of the defects implicated in IRDs. To identify multiple patients or families with variants in the same gene and thereby provide extra proof for pathogenicity, worldwide data sharing is needed.

Plasmid Characterization and Chromosome Analysis of Two netF+ Clostridium perfringens Isolates Associated with Foal and Canine Necrotizing Enteritis

PubMed Central

Mehdizadeh Gohari, Iman; Kropinski, Andrew M.; Weese, Scott J.; Parreira, Valeria R.; Whitehead, Ashley E.; Boerlin, Patrick; Prescott, John F.

2016-01-01

The recent discovery of a novel beta-pore-forming toxin, NetF, which is strongly associated with canine and foal necrotizing enteritis should improve our understanding of the role of type A Clostridium perfringens associated disease in these animals. The current study presents the complete genome sequence of two netF-positive strains, JFP55 and JFP838, which were recovered from cases of foal necrotizing enteritis and canine hemorrhagic gastroenteritis, respectively. Genome sequencing was done using Single Molecule, Real-Time (SMRT) technology-PacBio and Illumina Hiseq2000. The JFP55 and JFP838 genomes include a single 3.34 Mb and 3.53 Mb chromosome, respectively, and both genomes include five circular plasmids. Plasmid annotation revealed that three plasmids were shared by the two newly sequenced genomes, including a NetF/NetE toxins-encoding tcp-conjugative plasmid, a CPE/CPB2 toxins-encoding tcp-conjugative plasmid and a putative bacteriocin-encoding plasmid. The putative beta-pore-forming toxin genes, netF, netE and netG, were located in unique pathogenicity loci on tcp-conjugative plasmids. The C. perfringens JFP55 chromosome carries 2,825 protein-coding genes whereas the chromosome of JFP838 contains 3,014 protein-encoding genes. Comparison of these two chromosomes with three available reference C. perfringens chromosome sequences identified 48 (~247 kb) and 81 (~430 kb) regions unique to JFP55 and JFP838, respectively. Some of these divergent genomic regions in both chromosomes are phage- and plasmid-related segments. Sixteen of these unique chromosomal regions (~69 kb) were shared between the two isolates. Five of these shared regions formed a mosaic of plasmid-integrated segments, suggesting that these elements were acquired early in a clonal lineage of netF-positive C. perfringens strains. These results provide significant insight into the basis of canine and foal necrotizing enteritis and are the first to demonstrate that netF resides on a large and unique plasmid-encoded locus. PMID:26859667

Human remains found in two wells: a forensic entomology perspective.

PubMed

Magni, Paola A; Borrini, Matteo; Dadour, Ian R

2013-09-01

When estimating the time since death or manner of death, the identification and the pathological evaluations of a body are generally impeded by post mortem changes. Research and case studies help experts to achieve a more accurate diagnosis, but at present there is scant literature covering topics concerning forensic science and decompositional processes in aquatic environments. The two case studies presented each involve a decomposed body found in a unique aquatic environment; namely wells containing ground water. In Case 1 an entomologist attended the scene and in Case 2 an entomologist was only involved after 20 months when it was decided that the insect evidence collected at the second autopsy may be useful in determining a time frame. The first case highlights the problems associated with body retrieval from aquatic environments as the body was removed it dismembered. Fortunately, the well was able to be drained, so much of the insect evidence was retrieved. In the second case the body was found dismembered but the entomological evidence was overlooked and lost. During the second autopsy insects were found, collected, and sent to an entomologist to help clarify the post mortem interval.

Purification and characterization of a pilin specific for Brazilian purpuric fever-associated Haemophilus influenzae biogroup aegyptius (H. aegyptius) strains.

PubMed Central

Weyant, R S; Bibb, W F; Stephens, D S; Holloway, B P; Moo-Penn, W F; Birkness, K A; Helsel, L O; Mayer, L W

1990-01-01

Brazilian purpuric fever (BPF) is a recently described fatal pediatric disease caused by systemic infection with Haemophilus influenzae biogroup aegyptius. Previous studies have shown that all H. influenzae biogroup aegyptius strains isolated from BPF cases and case contacts share several unique phenotypic and genotypic characteristics that differentiate them from other H. influenzae biogroup aegyptius strains isolated from conjunctivitis cases in Brazil. One key characteristic of this BPF clone is reactivity in a BPF-specific monoclonal antibody enzyme-linked immunosorbent assay. We have purified and partially characterized a pilin, referred to as the 25-kilodalton (kDa) protein. Aggregates of this protein contain a heat-labile epitope which is recognized by a monoclonal antibody used in the BPF-specific enzyme-linked immunosorbent assay. The protein has a molecular weight of approximately 25,000, is insoluble in most detergents, and fractionates with outer membrane vesicles after LiCl extraction. Biochemical analysis of the 25-kDa protein shows it to have an amino acid composition similar but not identical to that of the H. influenzae type b pilin. The sequence of 20 N-terminal amino acids of the 25-kDa protein shows almost complete homology with the N terminus of the H. influenzae type b pilin and the types 1 and P pilins of Escherichia coli. Transmission electron microscopic analysis of the purified protein shows the presence of filamentous structures similar in morphology to those of H. influenzae pili. Reactivity between the 25-kDa protein and the BPF-specific monoclonal antibody is demonstrated by Western blotting (immunoblotting) and colloidal gold-enhanced immunoelectron microscopy. Hemadsorption analysis shows that expression of this protein is associated with increases in piliated cells and enhanced binding of these cells to human erythrocytes. These studies indicate that expression of the 25-kDa protein is a characteristic unique to the BPF clone and suggest that this protein plays a role in the pathogenesis of BPF. Images PMID:1970577

[Biological disturbances during the lupus-associated pancreatitis: case report].

PubMed

Sayagh, Sanae; Benchekroun, Leila; Bouabdellah, Mounya; Jaouhar, Nezha; El Aoufi, Farida; El Oufir, Fatiha; Alaoui, Meryem; Adnaoui, Mohammed; Chabraoui, Layachi

2015-01-01

We report in this paper the case of female patient, hypertriglyceridemia associated with milky serum and hyperglycemia have been the alarm signal of a lupus-associated pancreatitis, the confirmation of this entity was done with elevated rate of serum lipase activity. It is about a 33 years age female. She has as unique antecedent a lupus diagnosed on January of the same. The patient was admitted on august 2013 for another episode of lupus associated to the lower lamb edema with a rate of C3 at 0.4 g/L (0.82-1,93) and C4 at 0.05 g/L (0.15-0.57). One day after the beginning of the corticotherapy, the patient presented hyperthermia, ataxis and behavior troubles, epigastric and articular pains and vomiting. Biochemical tests found hyperglycemia at 38.9 mmol/L (3.9-6.1), dyslipidemia with hypertriglyceridemia at 15.7 mmol/L (0.3-1.7) and total cholesterol rate at 5.2 mmol/L (<5.2) associated with milky serum. Haematological tests objective normocytic normochromic anemia with 81 g/L of hemoglobin, lymphopenia at 0.88 G/L and normal platelet rate. Lupus associated pancreatitis was suggested and confirmed biologically with an hyperlipasemia at 180 UI/L (8-78) and radiologicaly with the image of focal hepatic steatosis. We conclude that on the presence of lupus, gastrointestinal and/or biological signs must motivate the measurement of the serum lipase activity as quickly as possible to assess the diagnosis of lupus-associated pancreatitis.

Phosphaturic mesenchymal tumor, mixed connective tissue type, non-phosphaturic variant: report of a case and review of 32 cases from the Japanese published work.

PubMed

Honda, Rie; Kawabata, Yuka; Ito, Shusaku; Kikuchi, Fumihito

2014-09-01

Phosphaturic mesenchymal tumor, mixed connective tissue type (PMTMCT) is a rare neoplasm that can cause tumor-induced osteomalacia due to overproduction of a phosphaturic hormone, fibroblast growth factor 23 (FGF23). We report here a case of subcutaneous PMTMCT, non-phosphaturic variant, in the sole. We also review 32 Japanese cases of PMTMCT reported in detail. They occurred in 16 men and 15 women (one was unknown), with ages ranging 20-73 years (median, 48). Tumors were found in soft tissue, bone and sinuses in 17, 11 and four, respectively. A history of long-standing osteomalacia was noted in all cases except two non-phosphaturic variant cases. Serum FGF23 level was elevated in 11 of 12 cases examined. In terms of follow-up information, metastases were found in four patients, and two patients died of disease. In conclusion, PMTMCT is histologically a benign lesion; however, there may be rare metastatic and malignant cases. Wider recognition of the histological features of this unique neoplasm would aid its distinction from the large number of mesenchymal tumors for which it may be mistaken and should enable correct diagnosis of tumors with osteomalacia. © 2014 Japanese Dermatological Association.

Global exponential stability analysis on impulsive BAM neural networks with distributed delays

NASA Astrophysics Data System (ADS)

Li, Yao-Tang; Yang, Chang-Bo

2006-12-01

Using M-matrix and topological degree tool, sufficient conditions are obtained for the existence, uniqueness and global exponential stability of the equilibrium point of bidirectional associative memory (BAM) neural networks with distributed delays and subjected to impulsive state displacements at fixed instants of time by constructing a suitable Lyapunov functional. The results remove the usual assumptions that the boundedness, monotonicity, and differentiability of the activation functions. It is shown that in some cases, the stability criteria can be easily checked. Finally, an illustrative example is given to show the effectiveness of the presented criteria.

Recurrent lymphocytic myocarditis in a young male with ulcerative colitis

PubMed Central

2014-01-01

Awareness of myocarditis in association with inflammatory bowel diseases is crucial as it bears a rare but serious risk for mortality. This report describes the case of a young Caucasian male, whose heart biopsy was tested negative for giant cells and bacterial or viral genomes or proteins. He was experiencing severe lymphocytic myocarditis (other than mesalamine-induced) along with cardiogenic shock during ulcerative colitis exacerbation. This is an extremely rare, if not unique, clinical constellation. We chose to study the epidemiologic grounds and all major aspects of differential pathogenesis and treatment of this serious health problem. PMID:24576324

Introduction: Nipah virus--discovery and origin.

PubMed

Chua, Kaw Bing

2012-01-01

Until the Nipah outbreak in Malaysia in 1999, knowledge of human infections with the henipaviruses was limited to the small number of cases associated with the emergence of Hendra virus in Australia in 1994. The Nipah outbreak in Malaysia alerted the global public health community to the severe pathogenic potential and widespread distribution of these unique paramyxoviruses. This chapter briefly describes the initial discovery of Nipah virus and the challenges encountered during the initial identification and characterisation of the aetiological agent responsible for the outbreak of febrile encephalitis. The initial attempts to isolate Nipah virus from the bat reservoir host are also described.

Orbital amelanotic melanoma in xeroderma pigmentosum: A rare association

PubMed Central

Amitava, Abadan K; Mehdi, Ghazala; Sharma, Rajeev; Alam, Mohammad S

2008-01-01

Xeroderma pigmentosum (XP) is an autosomal recessive genetic disorder of DNA repair in which the body′s normal ability to repair damage caused by ultraviolet light is deficient. This leads to a 1000-fold increased risk of cutaneous and ocular neoplasms. Ocular neoplasms occurring in XP in order of frequency are squamous cell carcinoma, basal cell carcinoma and melanoma. Malignant melanomas occur at an early age in patients with XP. We report a case of XP with massive orbital melanoma in an eight-year-old boy which is unique due to its amelanotic presentation confirmed histopathologically. PMID:18711275

Epidermoid cyst of the breast: Mammography, ultrasound, MRI.

PubMed

Wynne, Elisabeth; Louie, Adeline

2011-01-01

Epidermal cysts are common cysts located cutaneously or subcutaneously in the head, neck, and trunk. However, deep epidermal cysts of the breast are very rare, and are frequently associated with traumatic implantation. We present the case of a 62-year-old woman with a palpable mass in the right breast. The patient was evaluated using mammography, ultrasound, and MRI, which uniquely characterized the mass and revealed a second mass. Histological analysis revealed fragments of an epidermoid cyst. The origin of the cysts and location deep within the breast tissue likely were due to a previous bilateral-reduction mammoplasty.

Mandibulofacial dysostosis (Treacher-Collins syndrome) in the fetus: novel association with Pectus carinatum in a molecularly confirmed case and review of the fetal phenotype.

PubMed

Konstantinidou, Anastasia E; Tasoulas, Jason; Kallipolitis, Georgios; Gasparatos, Spyros; Velissariou, Voula; Paraskevakou, Helen

2013-12-01

Treacher Collins syndrome is the most common mandibulofacial dysostosis of autosomal dominant or, rarely, recessive inheritance. Affected fetuses may be identified by prenatal ultrasound or diagnosed at autopsy in case of perinatal death or pregnancy termination. We describe the ultrasonographic, autopsy, and molecular findings in a 25-week-gestation affected fetus, and review the clinical, prenatal, and postmortem findings in 15 previously reported fetal and perinatal cases. A nearly complete spectrum of the typical facial characteristics can be present by the early second trimester of gestation, including subtle defects such as lower eyelid colobomas. Mandibular hypoplasia and bilateral auricle defects were constant findings in the affected fetal population. Downslanting palpebral fissures were the second more common feature, followed by midface hypoplasia, polyhydramnios, and ocular defects. Association with Pierre Robin sequence was common (38%) in the reviewed series. Previously unreported pectus carinatum was noted in our case bearing a heterozygous TCOF1 mutation. Other unique reported findings include salivary gland hyperplasia, single umbilical artery, and tracheo-esophageal fistula, all in molecularly unconfirmed cases. Treacher Collins syndrome can be prenatally detected by ultrasound and should be included in the wide range of genetic syndromes that can be diagnosed at perinatal autopsy. Affected fetuses tend to have a more severe phenotype than living patients. The reported association of Treacher Collins syndrome type 1 with pectus carinatum expands the phenotype, provides information on genotype-phenotype correlation, and suggests possible pathogenetic interactions between neural crest cell disorders and the formation of the sternum that merit investigation. Copyright © 2013 Wiley Periodicals, Inc.

Behcet disease combined with Sjogren syndrome: A unique case report and literature review.

PubMed

Ju, Fang-He; Xu, Ting-Zhen; Hong, Hui-Hua; Mao, He; Wang, Meng; Wang, Zhen

2018-03-01

Behcet disease(BD) and Sjogren syndrome(SS) are separate conditions that rarely concomitantly affect an individual. In theory,mild symptoms of patients with BD or SS are easy to igore and,thus,remain undiagnosed. There,it is reasonable to believe there may be some clinical cases of combined diseases that go undiscovered and which needs to be taken seriously. In addition,it has been suggested that herpes simplex virus(HSV) types 1 and 2 are associated with BD,but have not been shown to be correlated to the direct pathogenesis of BD. The role of HSV in BD needs more research and attention. Here,we report a young woman who had both BD and SS. The first symptom of the disease was fever. However,the HSV type 1 IgG and HSV type 2 IgM antibody results were positive in our case and,which rendered this case unique. BD and SS concomitantly affect the individual,and BD was the acute type. IV methylprednisolone was used for 9 days and then oral glucocorticoids was used to instead,and the treatment works very well. BD and SS can concomitantly affect an individual,and we believe that HSV-2 may be directly related to the pathogenesis of BD. The nature of BD as an auto-inflammatory disorder, autoimmune disorder, or both, is controversial. If we can find more patients who combined affected these two disease, it might helpful for us to understand the nature of BD. For patients with clinical diagnosis of BD or SS,we need to be alert that it may combinded the other disease. Long term follow up and detailed inspection are important means to avoid undiscovered.

A sleeping phantom leg awakened following hemicolectomy, thrombosis, and chemotherapy: a case report.

PubMed

Giummarra, Melita J; Bradshaw, John L; Nicholls, Michael Er; Georgiou-Karistianis, Nellie; Gibson, Stephen J

2011-05-25

We describe the case of a patient who experienced phantom pain that began 42 years after right above-the-knee amputation. Immediately prior to phantom pain onset, this long-term amputee had experienced, in rapid succession, cancer, hemicolectomy, chemotherapy, and thrombotic occlusion. Very little has been published to date on the association between chemotherapy and exacerbation of neuropathic pain in amputees, let alone the phenomenon of bringing about pain in amputees who have been pain-free for many decades. While this patient presented with a unique profile following a rare sequence of medical events, his case should be recognized considering the frequent co-occurrence of osteomyelitis, chemotherapy, and amputation. A 68-year-old Australian Caucasian man presented 42 years after right above-the-knee amputation with phantom pain immediately following hemicolectomy, thrombotic occlusion in the amputated leg, and chemotherapy treatment with leucovorin and 5-fluorouracil. He exhibited probable hyperalgesia with a reduced pinprick threshold and increased stump sensitivity, indicating likely peripheral and central sensitization. Our patient, who had long-term nerve injury due to amputation, together with recent ischemic nerve and tissue injury due to thrombosis, exhibited likely chemotherapy-induced neuropathy. While he presented with unique treatment needs, cases such as this one may actually be quite common considering that osteosarcoma can frequently lead to amputation and be followed by chemotherapy. The increased susceptibility of amputees to developing potentially intractable chemotherapy-induced neuropathic pain should be taken into consideration throughout the course of chemotherapy treatment. Patients in whom chronic phantom pain then develops, perhaps together with mobility issues, inevitably place greater demands on healthcare service providers that require treatment by various clinical specialists, including oncologists, neurologists, prosthetists, and, most frequently, general practitioners.

Novel Drugs of Abuse: A Snapshot of an Evolving Marketplace.

PubMed

Vandrey, Ryan; Johnson, Matthew W; Johnson, Patrick S; Khalil, Miral A

2013-04-01

Over the past decade, non-medical use of novel drugs has proliferated worldwide. In most cases these are synthetic drugs first synthesized in academic or pharmaceutical laboratories for research or drug development purposes, but also include naturally occurring substances that do not fit the typical pharmacological or behavioral profile of traditional illicit substances. Perhaps most unique to this generation of new drugs is that they are being sold over the counter and on the Internet as "legal highs" or substitutes for traditional illicit drugs such as cannabis, cocaine, amphetamines, MDMA, and LSD. The purpose of this review is to provide an overview of novel drugs in current use, including the epidemiology of use and toxicologic and pharmacological properties, and to offer some guidelines to clinicians who see patients experiencing adverse effects from these drugs. We review the known scientific literature on recently introduced synthetic drug types, synthetic cannabinoids and synthetic cathinones, and the hallucinogen Salvia divinorum . These substances comprise part of a rapidly evolving and controversial drug market that has challenged definitions of what is legal and illegal, has benefitted from open commercial sales without regulatory oversight, and is noteworthy for the pace at which new substances are introduced. This emerging trend in substance use presents significant and unique public health and criminal justice challenges. At this time, these substances are not detected in routine drug screens and substance-specific treatment for cases of use-related toxicity are not available. Clinicians are encouraged to learn characteristic signs associated with misuse of novel drugs to recognize cases in their practice, and are recommended to use a symptom-specific approach for treatment in each case.

A unique approach to quantifying the changing workload and case mix in laparoscopic colorectal surgery.

PubMed

Shah, P R; Gupta, V; Haray, P N

2011-03-01

Laparoscopic colorectal surgery includes a range of operations with differing technical difficulty, and traditional parameters, such as conversion and complication rates, may not be sensitive enough to assess the complexity of these procedures. This study aims to define a reproducible and reliable tool for quantifying the total workload and the complexity of the case mix. This is a review of a single surgeon's 10-year experience. The intermediate equivalent value scoring system was used to code complexity of cases. To assess changes in the workload and case mix, the period has been divided into five phases. Three hundred and forty-nine laparoscopic operations were performed, of which there were 264 (75.6%) resections. The overall conversion rate was 17.8%, with progressive improvement over the phases. Complex major operation (CMO), as defined in the British United Provident Association (BUPA) schedule of procedures, accounted for 35% of the workload. In spite of similar numbers of cases in each phase, there was a steady increase in the workload score, correlating with the increasing complexity of the case mix. There was no significant difference in the conversion and complications rates between CMO and non-CMO. The paradoxical increase in the mean operating time with increasing experience corresponded to the progressive increase in the workload score, reflecting the increasing complexity of the case mix. This article establishes a reliable and reproducible tool for quantifying the total laparoscopic colorectal workload of an individual surgeon or of an entire department, while at the same time providing a measure of the complexity of the case mix. © 2011 The Authors. Colorectal Disease © 2011 The Association of Coloproctology of Great Britain and Ireland.

Deep sequencing reveals persistence of cell-associated mumps vaccine virus in chronic encephalitis.

PubMed

Morfopoulou, Sofia; Mee, Edward T; Connaughton, Sarah M; Brown, Julianne R; Gilmour, Kimberly; Chong, W K 'Kling'; Duprex, W Paul; Ferguson, Deborah; Hubank, Mike; Hutchinson, Ciaran; Kaliakatsos, Marios; McQuaid, Stephen; Paine, Simon; Plagnol, Vincent; Ruis, Christopher; Virasami, Alex; Zhan, Hong; Jacques, Thomas S; Schepelmann, Silke; Qasim, Waseem; Breuer, Judith

2017-01-01

Routine childhood vaccination against measles, mumps and rubella has virtually abolished virus-related morbidity and mortality. Notwithstanding this, we describe here devastating neurological complications associated with the detection of live-attenuated mumps virus Jeryl Lynn (MuV JL5 ) in the brain of a child who had undergone successful allogeneic transplantation for severe combined immunodeficiency (SCID). This is the first confirmed report of MuV JL5 associated with chronic encephalitis and highlights the need to exclude immunodeficient individuals from immunisation with live-attenuated vaccines. The diagnosis was only possible by deep sequencing of the brain biopsy. Sequence comparison of the vaccine batch to the MuV JL5 isolated from brain identified biased hypermutation, particularly in the matrix gene, similar to those found in measles from cases of SSPE. The findings provide unique insights into the pathogenesis of paramyxovirus brain infections.

Interkingdom transfer of the acne-causing agent, Propionibacterium acnes, from human to grapevine.

PubMed

Campisano, Andrea; Ometto, Lino; Compant, Stéphane; Pancher, Michael; Antonielli, Livio; Yousaf, Sohail; Varotto, Claudio; Anfora, Gianfranco; Pertot, Ilaria; Sessitsch, Angela; Rota-Stabelli, Omar

2014-05-01

Here, we report the surprising and, to our knowledge, unique example of horizontal interkingdom transfer of a human opportunistic pathogen (Propionibacterium acnes) to a crop plant (the domesticated grapevine Vitis vinifera L.). Humans, like most organisms, have established a long-lasting cohabitation with a variety of microbes, including pathogens and gut-associated bacteria. Studies which have investigated the dynamics of such associations revealed numerous cases of bacterial host switches from domestic animals to humans. Much less is, however, known about the exchange of microbial symbionts between humans and plants. Fluorescent in situ hybridization localized P. acnes in the bark, in xylem fibers, and, more interestingly, inside pith tissues. Phylogenetic and population genetic analyses suggest that the establishment of the grapevine-associated P. acnes as obligate endophyte is compatible with a recent transfer event, likely during the Neolithic, when grapevine was domesticated.

Granulomatous slack skin syndrome: Report of a unique case.

PubMed

Maheswari, S Uma; Sampath, V; Ramesh, A

2018-01-01

Granulomatous slack skin syndrome is a rare variant of cutaneous T-cell lymphoma (mycosis fungoides). It is characterized clinically by redundant skin folds, which show a predilection towards flexural areas such as the axilla and the groin. Histologically, it shows a granulomatous T-cell infiltrate and loss of elastic tissue. It has an indolent but progressive course; and is usually refractory to treatment. We report a unique case of slack skin syndrome, sparing the classical sites with rapid and unusual involvement of non-intertriginous areas.

Afebrile seizures and electrocardiography abnormality: an unusual presentation of nutritional rickets.

PubMed

Gad, Kg; Khan, Ma; Mahmood, K

2014-08-01

Nutritional rickets is not uncommon in the western world and has been reported widely. Occasionally, children have presented to paediatrics with afebrile seizures secondary to hypocalcaemia due to hypovitaminosis D. However, association of nutritional rickets with electrocardiography changes and prolonged QT interval is not well documented. It is a rare, potentially serious and yet easy-to-treat complication as shown in our case. Our case also highlights the importance of awareness and education of both parents and clinicians regarding this relatively common but easily treatable condition. We report a case of undiagnosed nutritional rickets presenting as 'Afebrile' seizure in a seven-month-old Somali girl. Her initial blood work-up showed low ionised calcium (0.8 mmol/l) on blood gas sampling, confirmed by laboratory result (adjusted 1.49 mmol/l). She had prolonged QTc on electrocardiography which reverted to normal with treatment. She was treated with intravenous as well as oral calcium after which she had no further seizures. We present a unique case of nutritional rickets-associated hypocalcaemia. This case highlights the resurgence of nutritional rickets in western societies. We need to keep this disease in our list of diagnoses as it is a potentially serious and yet easily treatable disease. We should be more vigilant for screening ethnic minorities as alarmingly high rates of hypovitaminosis D have been found in ethnic minorities living in Great Britain. © The Author(s) 2014 Reprints and permissions: sagepub.co.uk/journalsPermissions.nav.

Using the autonomic standards to assess orthostatic hypotension in persons with SCI: a case series.

PubMed

Wecht, Jill M; Wilson, James; Previnaire, Jean-Gabriel

2017-01-01

Spinal cord injury (SCI) creates a complex and unique syndrome of medical issues related to disruption of somatic and autonomic pathways. Among these impaired control of blood pressure (BP) can significantly impede patients' activities of daily living. The International Standards for the Assessment of Autonomic Function after SCI (ISAFSCI) is used to document the impact of SCI on resting BP (abnormal if below 90 mmHg) and the presence or absence of orthostatic hypotension (OH), defined as a symptomatic or asymptomatic decrease in BP (>/=20/10 mmHg) upon moving to an upright position. Case 1 documents the adverse influence of prescribed medications (antidepressants for neuropathic pain) on OH; case 2 describes the influence of bladder management on cardiovascular instability (autonomic dysreflexia and subsequent OH); case 3 describes the association between spasticity and OH; case 4 describes OH associated with a Valsalva maneuver. Impaired control of BP can stem from a combination of medical issues and autonomic dysfunction in persons with SCI. Management strategies for OH will vary depending on the stage of the SCI, the root cause of the OH and other confounding medical conditions. Non-pharmacological treatment should be considered as a first line of intervention and consideration should be given to cessation of potentially contributory medications prior to implementing pharmaceutical interventions. The systematic use of ISAFSCI by clinicians is recommended to document BP irregularities and to describe the effects of treatment strategies aimed at improving BP control in the SCI population.

The syndrome of perisylvian polymicrogyria with congenital arthrogryposis.

PubMed

Poduri, Annapurna; Chitsazzadeh, Vida; D'Arrigo, Stefano; Fedrizzi, Ermellina; Pantaleoni, Chiara; Riva, Daria; Busse, Claudia; Küster, Helmut; Duplessis, Adre; Gaitanis, John; Sahin, Mustafa; Garganta, Cheryl; Topcu, Meral; Dies, Kira A; Barry, Brenda J; Partlow, Jennifer; Barkovich, A James; Walsh, Christopher A; Chang, Bernard S

2010-08-01

Bilateral perisylvian polymicrogyria (BPP) is a well-recognized malformation of cortical development commonly associated with epilepsy, cognitive impairment, and oromotor apraxia. Reports have suggested the association of BPP with arthrogryposis multiplex congenita. We sought to investigate the clinical, electrophysiological, and neuroradiological features of this combined syndrome to determine if there are unique features that distinguish BPP with arthrogryposis from BPP alone. Cases of BPP with congenital arthrogryposis were identified from a large research database of individuals with polymicrogyria. Clinical features (including oromotor function, seizures, and joint contractures), MR brain imaging, and results of neuromuscular testing were reviewed. Ten cases of BPP with congenital arthrogryposis were identified. Most cases had some degree of oromotor apraxia. Only a few had seizures, but a majority of cases were still young children. Electrophysiological studies provided evidence for lower motor neuron or peripheral nervous system involvement. On brain imaging, bilateral polymicrogyria (PMG) centered along the Sylvian fissures was seen, with variable extension frontally or parietally; no other cortical malformations were present. We did not identify obvious neuroimaging features that distinguish this syndrome from that of BPP without arthrogryposis. The clinical and neuroimaging features of the syndrome of BPP with congenital arthrogryposis appear similar to those seen in cases of isolated BPP without joint contractures, but electrophysiological studies often demonstrate coexistent lower motor neuron or peripheral nervous system pathology. These findings suggest that BPP with arthrogryposis may have a genetic etiology with effects at two levels of the neuraxis. Copyright 2009 Elsevier B.V. All rights reserved.

Legionnaires' disease associated with a hospital water system. A five-year progress report on continuous hyperchlorination.

PubMed

Helms, C M; Massanari, R M; Wenzel, R P; Pfaller, M A; Moyer, N P; Hall, N

In 1981, sixteen cases of nosocomial legionellosis occurred among 456 patients admitted to a new hematology-oncology unit (35 per 1000 admissions). Monoclonal antibody typing and restriction endonuclease plasmid analysis identified a unique strain (09,04) of Legionella pneumophila serogroup 1 isolated from both patients and water outlets. Continuous hyperchlorination of the hot and cold water began in January 1982, and chlorine levels of 3 to 5 mg/L have been maintained most recently. Water samples have been consistently negative for Legionella for more than five years. Four sporadic cases of nosocomial legionellosis have occurred in the hematology-oncology unit during the same period (one per 1000 admissions) associated with a different strain of L pneumophila serogroup 1 (09,00). The environmental reservoir(s) of L pneumophila serogroup 1 in these cases has not been identified. Levels of trihalomethanes (potential carcinogens) were high (greater than 100 micrograms/L) when chlorine levels of hot water exceeded 4 mg/L. Some corrosion damage to the water distribution system has occurred: the average number of leaks per month increased steadily from zero in 1982 to 5.2 in 1986. The chlorinator installation costs were +75,800, and annual operation expenses were +12,500. Continuous hyperchlorination is a promising but still experimental technique for control of nosocomial legionellosis. In our experience, epidemic disease has been controlled, but sporadic cases have continued to occur.

[Chancroid in Algeria: the status of this sexually transmitted disease in 1995].

PubMed

Boudghène-Stambouli, O; Merad-Boudia, A

1997-01-01

Absent for several decades, the chancroid reappeared in Algeria in 1988. In the unique department of Dermatology and Venereology of the University Hospital of the country of Tlemcen (more than 700,000 inhabitants), we wanted to know the state of this STD seven years after the report of the first cases. The file of the consulting patients were examined. We looked for the principal characteristics of this STD: age, sex, incubation period, place infection contact, type of relation, clinical presentation, evolution without and with treatment, other associated STD (syphilis, HIV). From August 1988 (1st case) to December 1995, 144 cases of chancroid were collected = 1988: 6, 1989: 5, 1990: 7, 1991: 18, 1992: 11, 1993: 33, 1994: 48, 1995: 16. The presentation is quite stereotyped; it concerns males only, singles in must cases, having had sexual relations with prostitutes. The incubation period is short (less than 10 days), the characteristic ulceration presents, very often, some adenopathies. The treatment by cotrimoxazole is efficient. They are no concomitant syphilis or HIV infection. The chancroid is the first cause of genital ulceration in the world. Since 1991, it is the principal STD in our department. It spreads within a male population, young singles associated with prostitutes. It is well installed in Algeria, and its role, although minor, in the transmission of the HIV infection, should not be neglected.

Glyphosate epidemiology expert panel review: a weight of evidence systematic review of the relationship between glyphosate exposure and non-Hodgkin's lymphoma or multiple myeloma.

PubMed

Acquavella, John; Garabrant, David; Marsh, Gary; Sorahan, Tom; Weed, Douglas L

2016-09-01

We conducted a systematic review of the epidemiologic literature for glyphosate focusing on non-Hodgkin's lymphoma (NHL) and multiple myeloma (MM) - two cancers that were the focus of a recent review by an International Agency for Research on Cancer Working Group. Our approach was consistent with Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines for systematic reviews. We evaluated each relevant study according to a priori criteria for study quality: adequacy of study size, likelihood of confounding, potential for other biases and adequacy of the statistical analyses. Our evaluation included seven unique studies for NHL and four for MM, all but one of which were case control studies for each cancer. For NHL, the case-control studies were all limited by the potential for recall bias and the lack of adequate multivariate adjustment for multiple pesticide and other farming exposures. Only the Agricultural Health (cohort) Study met our a priori quality standards and this study found no evidence of an association between glyphosate and NHL. For MM, the case control studies shared the same limitations as noted for the NHL case-control studies and, in aggregate, the data were too sparse to enable an informed causal judgment. Overall, our review did not find support in the epidemiologic literature for a causal association between glyphosate and NHL or MM.

The relationship between urban environment and the inflammatory bowel diseases: a systematic review and meta-analysis.

PubMed

Soon, Ing Shian; Molodecky, Natalie A; Rabi, Doreen M; Ghali, William A; Barkema, Herman W; Kaplan, Gilaad G

2012-05-24

The objective of this study was to conduct a systematic review with meta-analysis of studies assessing the association between living in an urban environment and the development of the Crohn's disease (CD) or ulcerative colitis (UC). A systematic literature search of MEDLINE (1950-Oct. 2009) and EMBASE (1980-Oct. 2009) was conducted to identify studies investigating the relationship between urban environment and IBD. Cohort and case-control studies were analyzed using incidence rate ratio (IRR) or odds ratio (OR) with 95 % confidence intervals (CIs), respectively. Stratified and sensitivity analyses were performed to explore heterogeneity between studies and assess effects of study quality. The search strategy retrieved 6940 unique citations and 40 studies were selected for inclusion. Of these, 25 investigated the relationship between urban environment and UC and 30 investigated this relationship with CD. Included in our analysis were 7 case-control UC studies, 9 case-control CD studies, 18 cohort UC studies and 21 cohort CD studies. Based on a random effects model, the pooled IRRs for urban compared to rural environment for UC and CD studies were 1.17 (1.03, 1.32) and 1.42 (1.26, 1.60), respectively. These associations persisted across multiple stratified and sensitivity analyses exploring clinical and study quality factors. Heterogeneity was observed in the cohort studies for both UC and CD, whereas statistically significant heterogeneity was not observed for the case-control studies. A positive association between urban environment and both CD and UC was found. Heterogeneity may be explained by differences in study design and quality factors.

State variation in HIV/AIDS health outcomes: the effect of spending on social services and public health.

PubMed

Talbert-Slagle, Kristina M; Canavan, Maureen E; Rogan, Erika M; Curry, Leslie A; Bradley, Elizabeth H

2016-02-20

Despite considerable advances in the prevention and treatment of HIV/AIDS, the burden of new infections of HIV and AIDS varies substantially across the country. Previous studies have demonstrated associations between increased healthcare spending and better HIV/AIDS outcomes; however, less is known about the association between spending on social services and public health spending and HIV/AIDS outcomes. We sought to examine the association between state-level spending on social services and public health and HIV/AIDS case rates and AIDS deaths across the United States. We conducted a retrospective, longitudinal study of the 50 U.S. states over 2000-2009 using a dataset of HIV/AIDS case rates and AIDS deaths per 100 000 people matched with a unique dataset of state-level spending on social services and public health per person in poverty. We estimated multivariable regression models for each HIV/AIDS outcome as a function of the social service and public health spending 1 and 5 years earlier in the state, adjusted for the log of state GDP per capita, regional and time fixed effects, Medicaid spending as % of GDP, and socio-demographic, economic, and health resource factors. States with higher spending on social services and public health per person in poverty had significantly lower HIV and AIDS case rates and fewer AIDS deaths, both 1 and 5 years post expenditure (P ≤ 0.05). Our findings suggest that spending on social services and public health may provide a leverage point for state policymakers to reduce HIV/AIDS case rates and AIDS deaths in their state.

Gencrypt: one-way cryptographic hashes to detect overlapping individuals across samples

PubMed Central

Turchin, Michael C.; Hirschhorn, Joel N.

2012-01-01

Summary: Meta-analysis across genome-wide association studies is a common approach for discovering genetic associations. However, in some meta-analysis efforts, individual-level data cannot be broadly shared by study investigators due to privacy and Institutional Review Board concerns. In such cases, researchers cannot confirm that each study represents a unique group of people, leading to potentially inflated test statistics and false positives. To resolve this problem, we created a software tool, Gencrypt, which utilizes a security protocol known as one-way cryptographic hashes to allow overlapping participants to be identified without sharing individual-level data. Availability: Gencrypt is freely available under the GNU general public license v3 at http://www.broadinstitute.org/software/gencrypt/ Contact: joelh@broadinstitute.org Supplementary information: Supplementary data are available at Bioinformatics online. PMID:22302573

Managing adverse effects of immunotherapy.

PubMed

Gerson, James N; Ramamurthy, Chethan; Borghaei, Hossein

2018-05-01

Remarkable efficacy has been achieved in a variety of cancer types by targeting immune checkpoints. The cytotoxic T-lymphocyte-associated antigen 4 inhibitor ipilimumab, the programmed death 1 inhibitors nivolumab and pembrolizumab, and the programmed death ligand 1 inhibitors atezolizumab, avelumab, and durvalumab are the agents currently approved by the US Food and Drug Administration for the treatment of certain advanced malignancies. These agents mark a departure from both standard cytotoxic chemotherapy and targeted therapy. However, they are associated with a unique set of immune-related adverse events (irAEs), which can manifest as a wide range of autoimmune phenomena. The irAEs can affect any system in the body and in rare cases are life-threatening. It is critical for the practicing medical oncologist to recognize and promptly treat any irAEs that may develop.

Stroop performance, dissociation, and trauma exposure in a community sample of children.

PubMed

DePrince, Anne P; Weinzierl, Kristin M; Combs, Melody D

2008-01-01

Extending previous research with adults, the current study examined Stroop task performance under selective and divided attention demands in a community sample of school-age children (N = 97). Stroop interference scores in both attention conditions were calculated. Higher levels of child-reported dissociation were associated with better interference control under divided attention conditions and worse control under selective attention conditions; lower levels of dissociation were associated with the opposite pattern. Both family violence exposure and Stroop interaction scores explained unique variance in dissociation scores. Although research with adults has generally assumed or implied that cognitive correlates of dissociation are a consequence of dissociation, the current findings with school-age children suggest that future research should evaluate executive function performance (in this case, interference control) as a possible risk factor for dissociation.

MELAS syndrome associated with both A3243G-tRNALeu mutation and multiple mitochondrial DNA deletions.

PubMed

Aharoni, Sharon; Traves, Teres A; Melamed, Eldad; Cohen, Sarit; Silver, Esther Leshinsky

2010-09-15

The syndrome of mitochondrial encephalopathy, lactic acidosis, and stroke-like episode (MELAS) is characterized clinically by recurrent focal neurological deficits, epilepsy, and short stature. The phenotypic spectrum is extremely diverse, with multisystemic organ involvement leading to isolated diabetes, deafness, renal tubulopathy, hypertrophic cardiomyopathy, and retinitis pigmentosa. In 80% of cases, the syndrome is associated with an AG transmission mutation (A3243G) in the tRNALeu gene of the mitochondrial DNA (mtDNA). We describe a woman with a unique combination of the MELAS A3243G mutation and multiple mtDNA deletions with normal POLG sequence. The patient presented with diabetes mellitus, sensorineural deafness, short stature, and mental disorientation. All her three children died in early adolescence. 2010 Elsevier B.V. All rights reserved.

Tracking discourse complexity preceding Alzheimer's disease diagnosis: a case study comparing the press conferences of Presidents Ronald Reagan and George Herbert Walker Bush.

PubMed

Berisha, Visar; Wang, Shuai; LaCross, Amy; Liss, Julie

2015-01-01

Changes in some lexical features of language have been associated with the onset and progression of Alzheimer's disease. Here we describe a method to extract key features from discourse transcripts, which we evaluated on non-scripted news conferences from President Ronald Reagan, who was diagnosed with Alzheimer's disease in 1994, and President George Herbert Walker Bush, who has no known diagnosis of Alzheimer's disease. Key word counts previously associated with cognitive decline in Alzheimer's disease were extracted and regression analyses were conducted. President Reagan showed a significant reduction in the number of unique words over time and a significant increase in conversational fillers and non-specific nouns over time. There was no significant trend in these features for President Bush.

Tooth wear: attrition, erosion, and abrasion.

PubMed

Litonjua, Luis A; Andreana, Sebastiano; Bush, Peter J; Cohen, Robert E

2003-06-01

Attrition, erosion, and abrasion result in alterations to the tooth and manifest as tooth wear. Each classification acts through a distinct process that is associated with unique clinical characteristics. Accurate prevalence data for each classification are not available since indices do not necessarily measure one specific etiology, or the study populations may be too diverse in age and characteristics. The treatment of teeth in each classification will depend on identifying the factors associated with each etiology. Some cases may require specific restorative procedures, while others will not require treatment. A review of the literature points to the interaction of the three entities in the initiation and progression of lesions that may act synchronously or sequentially, synergistically or additively, or in conjunction with other entities to mask the true nature of tooth wear, which appears to be multifactorial.

X-rays from the radio halo of Virgo A = M87

NASA Technical Reports Server (NTRS)

1985-01-01

The purpose of this study is to investigate in more detail the associated X-ray and radio emission in the Virgo A halo discovered by SGF. Improved Einstein HRI data and new radio maps obtained with the Very Large Array are described and the relation between the X-ray and radio structures is carefully examined. Several possible explanations are presented for the X-ray emission. The inverse compton model is found to be viable only if the magnetic field is variable and substantially weaker than the equipartition value. The principal alternative is excess thermal X-rays due to compression of the intracluster medium by the radio lobe. In either case, the association of such prominent radio and X-ray structures is unique among known radio galaxies.

Respiratory exacerbation in a young adult with cystic fibrosis and tricuspid atresia.

PubMed

Wood, Jamie; Sawyer, Abbey; Mulrennan, Siobhain; Bullock, Andrew

2018-07-01

Tricuspid atresia (TAt) is a complex congenital heart defect (CHD) characterized by the absence of the tricuspid valve and right ventricular hypoplasia requiring surgery in childhood, the Fontan procedure. We present a case of a 21-year-old male with TAt and cystic fibrosis (CF), who underwent a Fontan procedure in childhood, presenting to an adult CF clinic with severe deterioration in his respiratory status and multi-organ dysfunction associated with CF. This report describes problems associated with the management of a CF respiratory exacerbation and extrapulmonary manifestations of CF in the unique situation of a Fontan circulation, a circulation with absence of a subpulmonary ventricle and pulsatile pulmonary arterial blood flow where maintenance of systemic cardiac output is totally dependent on good respiratory function and low pulmonary artery pressures.

Upper gastrointestinal bleeding caused by severe esophagitis: a unique clinical syndrome.

PubMed

Guntipalli, Prathima; Chason, Rebecca; Elliott, Alan; Rockey, Don C

2014-12-01

We have recognized a unique clinical syndrome in patients with upper gastrointestinal bleeding who are found to have severe esophagitis. We aimed to more clearly describe the clinical entity of upper gastrointestinal bleeding in patients with severe esophagitis. We conducted a retrospective matched case-control study designed to investigate clinical features in patients with carefully defined upper gastrointestinal bleeding and severe esophagitis. Patient data were captured prospectively via a Gastrointestinal Bleeding Healthcare Registry, which collects data on all patients admitted with gastrointestinal bleeding. Patients with endoscopically documented esophagitis (cases) were matched with randomly selected controls that had upper gastrointestinal bleeding caused by other lesions. Epidemiologic features in patients with esophagitis were similar to those with other causes of upper gastrointestinal bleeding. However, hematemesis was more common in patients with esophagitis 86% (102/119) than in controls 55% (196/357) (p < 0.0001), while melena was less common in patients with esophagitis 38% (45/119) than in controls 68% (244/357) (p < 0.0001). Additionally, the more severe the esophagitis, the more frequent was melena. Patients with esophagitis had less abnormal vital signs, lesser decreases in hematocrit, and lesser increases in BUN. Both pre- and postRockall scores were lower in patients with esophagitis compared with controls (p = 0.01, and p < 0.0001, respectively). Length of hospital stay (p = 0.002), rebleeding rate at 42 days (p = 0.0007), and mortality were less in patients with esophagitis than controls. Finally, analysis of patients with esophagitis and cirrhosis suggested that this group of patients had more severe bleeding than those without cirrhosis. We have described a unique clinical syndrome in patients with upper gastrointestinal bleeding who have erosive esophagitis. This syndrome is manifest by typical clinical features and is associated with favorable outcomes.

Bilateral subcutaneous fibrosarcomas in a cat following feline parvo-, herpes- and calicivirus vaccination.

PubMed

De Man, Marc M G; Ducatelle, Richard V

2007-10-01

A crossbred cat developed a subcutaneous fibrosarcoma on the left side of the thorax at the site of previous administration of a feline parvo-, herpes- and calicivirus vaccine. A few months later the cat developed a second mass on the right side of the thorax after a booster vaccine had been administered at this site. This unique case of bilateral fibrosarcomas in a cat shortly after vaccination with parvo-, herpes- and caliciviruses suggests an individual disposition for the development of vaccine-associated sarcomas and a possible triggering of this type of pathological response which could have precipitated the development of the second tumour. To the authors' knowledge, this is the first case of vaccine-induced fibrosarcomas occurring bilaterally after injection of a feline parvo-, herpes- and calicivirus containing vaccine at different sides of the thorax.

Challenges in the Management of Geriatric Trauma: A Case Report.

PubMed

Gaebel, Ashley; Keiser, Megan

This article describes geriatric trauma and commonly associated difficulties emphasizing both the epidemiology and assessment of geriatric trauma. There is little data guiding decisions for trauma patients 65 years or older, as there are many unique characteristics to the geriatric population, including comorbidities, medications, and the aging physiology. The geriatric population in the United States has been steadily climbing for the last 20 years and is projected to continue on this trend. Although each patient presents differently, there remains a need for the consistent utilization of standard guidelines to help dictate care for geriatric patients, particularly for patients not receiving care at a trauma center. This review uses a case study about an elderly woman with many comorbidities, followed by a comprehensive discussion of geriatric trauma and the challenges that result from a lack of guideline utilization to direct management.

Mitral valve replacement complicated by iatrogenic left ventricular outflow obstruction and paravalvular leak: case report and review of literature.

PubMed

Lee, Justin Z; Tey, Kai R; Mizyed, Ahmad; Hennemeyer, Charles T; Janardhanan, Rajesh; Lotun, Kapildeo

2015-10-09

Left ventricular outflow tract (LVOT) obstruction and paravalvular leak (PVL) are relatively uncommon, but are serious complications of prosthetic valve replacement. We present a case that displays the unique therapeutic challenges of treating a patient who developed both LVOT obstruction and mitral PVL after undergoing surgical aortic and mitral valve replacement (MVR). We also describe the use of alcohol septal ablation and albumin-glutaraldehyde (BioGlue) for septal ablation to percutaneously treat the patient's LVOT obstruction, followed by use of an Amplatzer vascular plug for percutaneous closure of an antero-medial mitral PVL associated with severe regurgitation. Percutaneous interventional management of these entities may be considered as an initial therapeutic option, especially in high-risk patients with significant morbidity and mortality of repeat surgical operations.

A paraneoplastic manifestation of metastatic breast cancer responding to endocrine therapy: a case report.

PubMed

Wood, Joanna P; Haynes, Andrew P; Cheung, K L

2008-12-16

Many cancers are known to be associated with paraneoplastic syndromes. These syndromes are usually treated by chemotherapy with or without immunosupression but they often respond poorly. There are no published reviews on response to endocrine treatment. We report a case of a patient presenting with papillitis, myositis and sensory peripheral neuropathy 18 months before a diagnosis of metastatic oestrogen receptor positive breast cancer was confirmed. The patient was treated with anastrozole which led not only to a decrease of her tumour burden but also to an improvement in her biochemical markers and amelioration of her clinical symptoms. This case is an example of breast cancer presenting with paraneoplastic manifestations. It took several months to establish the cause of symptoms in this patient thus illustrating the need for physicians to maintain a high index of suspicion for paraneoplastic syndromes in women presenting with unusual neurological symptoms with no obvious cause.It is a unique case as it illustrates how treatment with an aromatase inhibitor leading to cancer regression can result in an improvement in the paraneoplastic symptoms.

Calvarial bone cavernous hemangioma with intradural invasion: An unusual aggressive course-Case report and literature review.

PubMed

Nasi, Davide; Somma, Lucia di; Iacoangeli, Maurizio; Liverotti, Valentina; Zizzi, Antonio; Dobran, Mauro; Gladi, Maurizio; Scerrati, Massimo

2016-01-01

Cavernous hemangioma of the skull is a rare pathological diagnosis, accounting for 0.2% of bone tumors and 7% of skull tumors. Usually calvarial bone cavernous hemangioma are associated with a benign clinical course and, despite their enlargement and subsequent erosion of the surrounding bone, the inner table of the skull remains intact and the lesion is completely extracranial. The authors present the unique case of a huge left frontal bone cavernous malformation with intradural extension and brain compression determining a right hemiparesis. Calvarial cavernous hemangiomas are benign tumors. They arise from vessels in the diploic space and tend to involve the outer table of the skull with relative sparing of the inner table. More extensive involvement of the inner table and extradural space is very unusual and few cases are reported in literature. To the best of our knowledge, intradural invasion of calvarial hemangioma has not been previously reported. Our case highlights the possibility of an aggressive course of this rare benign pathology. Copyright © 2016 The Authors. Published by Elsevier Ltd.. All rights reserved.

Does Extremely Low Birth Weight Predispose to Low-Renin Hypertension?

PubMed

Raaijmakers, Anke; Zhang, Zhen-Yu; Claessens, Jolien; Cauwenberghs, Nicholas; van Tienoven, Theun Pieter; Wei, Fang-Fei; Jacobs, Lotte; Levtchenko, Elena; Pauwels, Steven; Kuznetsova, Tatiana; Allegaert, Karel; Staessen, Jan A

2017-03-01

Low birth weight and prematurity are risk factors for hypertension in adulthood. Few studies in preterm or full-term born children reported on plasma renin activity (PRA). We tested the hypothesis that renin might modulate the incidence of hypertension associated with prematurity. We enrolled 93 prematurely born children with birth weight <1000 g and 87 healthy controls born at term, who were all examined at ≈11 years. Renal length and glomerular filtration rate derived from serum cystatin C were 0.28 cm (95% confidence interval, 0.09-0.47) and 11.5 mL/min per 1.73 m 2 (6.4-16.6) lower in cases, whereas their systolic/diastolic blood pressure (BP) was 7.5 mm Hg (4.8-10.3)/4.0 mm Hg (2.1-5.8) higher ( P <0.001 for all). The odds of having systolic prehypertension or systolic hypertension associated with extreme low birth weight were 6.43 (2.52-16.4; P <0.001) and 10.9 (2.46-48.4; P =0.002). Twenty-four hours of urinary sodium excretion was similar in cases and controls (102.1 versus 106.8 mmol; P =0.47). Sodium load per nephron was estimated as sodium excretion divided by kidney length (mmol/cm). PRA was 0.54 ng/mL per hour (0.23-0.85; P =0.001) lower in cases. PRA, systolic BP, and sodium load were available in 43 cases and 56 controls. PRA decreased with systolic BP (slope -0.022 ng/mL per hour/ - mm Hg ; P =0.048), but was unrelated to sodium load (slope +0.13 mmol/cm - mm Hg ; P =0.54). The slope of PRA on systolic BP was similar ( P =0.17) in cases and controls. In conclusion, extremely low birth weight predisposes young adolescents to low-renin hypertension, but does not affect the inverse association between PRA and BP. URL: https://www.clinicaltrials.gov. Unique identifier: NCT02147457. © 2017 American Heart Association, Inc.

COREMIC: a web-tool to search for a niche associated CORE MICrobiome.

PubMed

Rodrigues, Richard R; Rodgers, Nyle C; Wu, Xiaowei; Williams, Mark A

2018-01-01

Microbial diversity on earth is extraordinary, and soils alone harbor thousands of species per gram of soil. Understanding how this diversity is sorted and selected into habitat niches is a major focus of ecology and biotechnology, but remains only vaguely understood. A systems-biology approach was used to mine information from databases to show how it can be used to answer questions related to the core microbiome of habitat-microbe relationships. By making use of the burgeoning growth of information from databases, our tool "COREMIC" meets a great need in the search for understanding niche partitioning and habitat-function relationships. The work is unique, furthermore, because it provides a user-friendly statistically robust web-tool (http://coremic2.appspot.com or http://core-mic.com), developed using Google App Engine, to help in the process of database mining to identify the "core microbiome" associated with a given habitat. A case study is presented using data from 31 switchgrass rhizosphere community habitats across a diverse set of soil and sampling environments. The methodology utilizes an outgroup of 28 non-switchgrass (other grasses and forbs) to identify a core switchgrass microbiome. Even across a diverse set of soils (five environments), and conservative statistical criteria (presence in more than 90% samples and FDR q -val <0.05% for Fisher's exact test) a core set of bacteria associated with switchgrass was observed. These included, among others, closely related taxa from Lysobacter spp., Mesorhizobium spp , and Chitinophagaceae . These bacteria have been shown to have functions related to the production of bacterial and fungal antibiotics and plant growth promotion. COREMIC can be used as a hypothesis generating or confirmatory tool that shows great potential for identifying taxa that may be important to the functioning of a habitat (e.g. host plant). The case study, in conclusion, shows that COREMIC can identify key habitat-specific microbes across diverse samples, using currently available databases and a unique freely available software.

COREMIC: a web-tool to search for a niche associated CORE MICrobiome

PubMed Central

Rodgers, Nyle C.; Wu, Xiaowei; Williams, Mark A.

2018-01-01

Microbial diversity on earth is extraordinary, and soils alone harbor thousands of species per gram of soil. Understanding how this diversity is sorted and selected into habitat niches is a major focus of ecology and biotechnology, but remains only vaguely understood. A systems-biology approach was used to mine information from databases to show how it can be used to answer questions related to the core microbiome of habitat-microbe relationships. By making use of the burgeoning growth of information from databases, our tool “COREMIC” meets a great need in the search for understanding niche partitioning and habitat-function relationships. The work is unique, furthermore, because it provides a user-friendly statistically robust web-tool (http://coremic2.appspot.com or http://core-mic.com), developed using Google App Engine, to help in the process of database mining to identify the “core microbiome” associated with a given habitat. A case study is presented using data from 31 switchgrass rhizosphere community habitats across a diverse set of soil and sampling environments. The methodology utilizes an outgroup of 28 non-switchgrass (other grasses and forbs) to identify a core switchgrass microbiome. Even across a diverse set of soils (five environments), and conservative statistical criteria (presence in more than 90% samples and FDR q-val <0.05% for Fisher’s exact test) a core set of bacteria associated with switchgrass was observed. These included, among others, closely related taxa from Lysobacter spp., Mesorhizobium spp, and Chitinophagaceae. These bacteria have been shown to have functions related to the production of bacterial and fungal antibiotics and plant growth promotion. COREMIC can be used as a hypothesis generating or confirmatory tool that shows great potential for identifying taxa that may be important to the functioning of a habitat (e.g. host plant). The case study, in conclusion, shows that COREMIC can identify key habitat-specific microbes across diverse samples, using currently available databases and a unique freely available software. PMID:29473009

Forensic epidemiologic and biomechanical analysis of a pelvic cavity blowout injury associated with ejection from a personal watercraft (jet-ski).

PubMed

Freeman, Michael D; Everson, Todd M; Kohles, Sean S

2013-01-01

Jet-propelled personal watercraft (PWC) or jet-skis have become increasingly popular. The means of propulsion of PWC, which is a jet of water forced out of small nozzle at the rear of the craft, combined with a high risk of falling off of the seat and into close proximity with the water jet stream, raise the potential for a unique type of injury mechanism. The most serious injuries associated with PWC falls are those that occur when the perineum passes in close proximity to the jet nozzle and the high-pressure water stream enters the vaginal or rectal orifice. We describe the forensic investigation into a case of an anovaginal "blowout" injury in a passenger who was ejected from the rear seat position of a PWC and subsequently suffered life-threatening injuries to the pelvic organs. The investigation included a biomechanical analysis of the injury mechanism, a summary of prior published reports of internal pelvic injuries resulting from PWC falls as well as other water sports and activities, and a comparison of the severity of the injuries resulting from differing mechanisms using the New Injury Severity Score (NISS). The mean (± standard deviation [SD]) NISS values for reported PWC injuries [not including the NISS of 38 in this case study] were 11.2 (± 9.5), while the mean value for reported water-skiing falls was half that of the PWC group at 5.6 (± 5.2). It was concluded that the analyzed injuries were unique to a PWC ejection versus other previously described non-PWC-associated water sport injuries. It is recommended that PWC manufacturers help consumers understand the potential risks to passengers with highly visible warnings and reduce injury risk with revised seat design, and/or passenger seat "deadman" switches. © 2012 American Academy of Forensic Sciences.

What's Unique about Unique Entities? An fMRI Investigation of the Semantics of Famous Faces and Landmarks

PubMed Central

Olson, Ingrid R.

2012-01-01

Famous people and artifacts are referred to as “unique entities” (UEs) due to the unique nature of the knowledge we have about them. Past imaging and lesion experiments have indicated that the anterior temporal lobes (ATLs) as having a special role in the processing of UEs. It has remained unclear which attributes of UEs were responsible for the observed effects in imaging experiments. In this study, we investigated what factors of UEs influence brain activity. In a training paradigm, we systematically varied the uniqueness of semantic associations, the presence/absence of a proper name, and the number of semantic associations to determine factors modulating activity in regions subserving the processing of UEs. We found that a conjunction of unique semantic information and proper names modulated activity within a section of the left ATL. Overall, the processing of UEs involved a wider left-hemispheric cortical network. Within these regions, brain activity was significantly affected by the unique semantic attributes especially in the presence of a proper name, but we could not find evidence for an effect of the number of semantic associations. Findings are discussed in regard to current models of ATL function, the neurophysiology of semantics, and social cognitive processing. PMID:22021913

Anxiety Sensitivity Index (ASI-3) subscales predict unique variance in anxiety and depressive symptoms.

PubMed

Olthuis, Janine V; Watt, Margo C; Stewart, Sherry H

2014-03-01

Anxiety sensitivity (AS) has been implicated in the development and maintenance of a range of mental health problems. The development of the Anxiety Sensitivity Index - 3, a psychometrically sound index of AS, has provided the opportunity to better understand how the lower-order factors of AS - physical, psychological, and social concerns - are associated with unique forms of psychopathology. The present study investigated these associations among 85 treatment-seeking adults with high AS. Participants completed measures of AS, anxiety, and depression. Multiple regression analyses controlling for other emotional disorder symptoms revealed unique associations between AS subscales and certain types of psychopathology. Only physical concerns predicted unique variance in panic, only cognitive concerns predicted unique variance in depressive symptoms, and social anxiety was predicted by only social concerns. Findings emphasize the importance of considering the multidimensional nature of AS in understanding its role in anxiety and depression and their treatment. Copyright © 2013 Elsevier Ltd. All rights reserved.

TeamSTEPPS Improves Operating Room Efficiency and Patient Safety.

PubMed

Weld, Lancaster R; Stringer, Matthew T; Ebertowski, James S; Baumgartner, Timothy S; Kasprenski, Matthew C; Kelley, Jeremy C; Cho, Doug S; Tieva, Erwin A; Novak, Thomas E

2016-09-01

The objective was to evaluate the effect of TeamSTEPPS on operating room efficiency and patient safety. TeamSTEPPS consisted of briefings attended by all health care personnel assigned to the specific operating room to discuss issues unique to each case scheduled for that day. The operative times, on-time start rates, and turnover times of all cases performed by the urology service during the initial year with TeamSTEPPS were compared to the prior year. Patient safety issues identified during postoperative briefings were analyzed. The mean case time was 12.7 minutes less with TeamSTEPPS (P < .001). The on-time first-start rate improved by 21% with TeamSTEPPS (P < .001). The mean room turnover time did not change. Patient safety issues declined from an initial rate of 16% to 6% at midyear and remained stable (P < 0.001). TeamSTEPPS was associated with improved operating room efficiency and diminished patient safety issues in the operating room. © The Author(s) 2015.

Tinea cruris and tinea corporis masquerading as tinea indecisiva: case report and review of the literature.

PubMed

Sonthalia, Sidharth; Singal, Archana; Das, Shukla

2015-01-01

Tinea indecisiva is characterized by concentric scaly rings simulating tinea imbricata but caused by dermatophytes other than Trichophyton concentricum. Tinea indecisiva has been rarely reported. We report a unique case and review of the previously reported cases, pathogenesis, and management. An adult Indian man developed extensive tinea cruris and tinea corporis with concentric rings of scaly lesions over the groin, buttocks, and thighs following the use of oral corticosteroids and antifungal-steroid cream for 3 months. Mycologic and immunologic studies were performed for diagnosis. Diagnosis of tinea indecisiva was confirmed on the appearance of "ring-within-a-ring" lesions clinically and isolation of Trichophyton mentagrophytes var. interdigitale as the etiologic agent on mycologic testing. Intradermal testing with Trichophyton extract showed fluctuating hypersensitivity responses. Four-week treatment with daily oral terbinafine resulted in complete resolution. Tinea indecisiva should be considered in a patient with tinea imbricata-like lesions with local immunosuppression caused by a non-concentricum dermatophyte. © 2014 Canadian Dermatology Association.

Isolated amygdala neurocysticercosis in a patient presenting with déjà vu and olfactory auras. Case report.

PubMed

Lee, Darrin J; Owen, Christopher M; Khanifar, Elham; Kim, Ronald C; Binder, Devin K

2009-06-01

Neurocysticercosis is the most common parasitic infection in the CNS and a leading cause of epilepsy. Since it is a circumscribed lesional cause of epilepsy, specific locations of neurocysticercal lesions may lead to specific clinical presentations. The authors describe a 17-year-old Hispanic boy who had a single enhancing bilobar mass in the right amygdala. Initially, the patient presented with secondarily generalized tonic-clonic seizures, which resolved with antiepilepsy drug therapy. On further investigation, he was found to have persistent olfactory and déjà vu auras. A right amygdalectomy without hippocampectomy was performed, and both the seizures and auras immediately resolved. Pathological analysis revealed neurocysticercosis. To the authors' knowledge, this case is the first reported instance of 2 distinct mesial temporal aura semiologies associated with localized neurocysticercosis in the amygdala and successfully treated with resection. Uniquely, the case demonstrates that both olfactory and déjà vu auras can emanate from the amygdala.

Giant iliopectineal bursitis presenting as neuropathy and severe edema of the lower limb: case illustration and review of the literature.

PubMed

Iwata, Takahiro; Nozawa, Satoshi; Ohashi, Minoru; Sakai, Hiroshi; Shimizu, Katsuji

2013-05-01

We report a 61-year-old woman with rheumatoid arthritis (RA: Steinblocker stage III, class 3) who developed severe swelling and neuropathy of the right lower limb caused by an iliopectineal bursa associated with destruction of the hip joint. Physical examination revealed an inguinal mass and groin pain. X-ray examination indicated destruction of the hip joint. Contrast-enhanced computed tomography showed the bursa connected with the hip joint and a markedly compressed external iliac vein among the inguinal ligament, pubis, and bursa. The patient underwent partial synovial resection and total hip arthroplasty for recovery of hip function, and this led to successful resolution of the symptoms and bursa. We present the characteristic images from this case and review all previously reported cases of RA iliopsoas bursitis causing leg swelling or neuropathy, and summarize the background. Since this lesion may cause various symptoms, clinical awareness that iliopsoas bursitis may present with unique clinical symptoms may aid correct diagnosis.

Endonasal management of pediatric congenital transsphenoidal encephaloceles: nuances of a modified reconstruction technique. Technical note and report of 3 cases.

PubMed

Zeinalizadeh, Mehdi; Sadrehosseini, Seyed Mousa; Habibi, Zohreh; Nejat, Farideh; Silva, Harley Brito da; Singh, Harminder

2017-03-01

OBJECTIVE Congenital transsphenoidal encephaloceles are rare malformations, and their surgical treatment remains challenging. This paper reports 3 cases of transsphenoidal encephalocele in 8- to 24-month-old infants, who presented mainly with airway obstruction, respiratory distress, and failure to thrive. METHODS The authors discuss the surgical management of these lesions via a minimally invasive endoscopic endonasal approach, as compared with the traditional transcranial and transpalatal approaches. A unique endonasal management algorithm for these lesions is outlined. The lesions were repaired with no resection of the encephalocele sac, and the cranial base defects were reconstructed with titanium mesh plates and vascular nasoseptal flaps. RESULTS Reduction of the encephalocele and reconstruction of the skull base was successfully accomplished in all 3 cases, with favorable results. CONCLUSIONS The described endonasal management algorithm for congenital transsphenoidal encephaloceles is a safe, viable alternative to traditional transcranial and transpalatal approaches, and avoids much of the morbidity associated with these open techniques.

Pitt-Hopkins Syndrome: A Review of Current Literature, Clinical Approach, and 23-Patient Case Series.

PubMed

Goodspeed, Kimberly; Newsom, Cassandra; Morris, Mary Ann; Powell, Craig; Evans, Patricia; Golla, Sailaja

2018-03-01

Pitt-Hopkins syndrome (PTHS) is a rare, genetic disorder caused by a molecular variant of TCF4 which is involved in embryologic neuronal differentiation. PTHS is characterized by syndromic facies, psychomotor delay, and intellectual disability. Other associated features include early-onset myopia, seizures, constipation, and hyperventilation-apneic spells. Many also meet criteria for autism spectrum disorder. Here the authors present a series of 23 PTHS patients with molecularly confirmed TCF4 variants and describe 3 unique individuals. The first carries a small deletion but does not exhibit the typical facial features nor the typical pattern of developmental delay. The second exhibits typical facial features, but has attained more advanced motor and verbal skills than other reported cases to date. The third displays typical features of PTHS, however inherited a large chromosomal duplication involving TCF4 from his unaffected father with somatic mosaicism. To the authors' knowledge, this is the first chromosomal duplication case reported to date.

Focal retinal phlebitis.

PubMed

Hoang, Quan V; Freund, K Bailey; Klancnik, James M; Sorenson, John A; Cunningham, Emmett T; Yannuzzi, Lawrence A

2012-01-01

To report three cases of solitary, focal retinal phlebitis. An observational case series. Three eyes in three patients were noted to have unilateral decreased vision, macular edema, and a focal retinal phlebitis, which was not at an arteriovenous crossing. All three patients developed a branch retinal vein occlusion at the site of inflammation. These patients had no other evidence of intraocular inflammation, including vitritis, retinitis, retinal vasculitis, or choroiditis, nor was there any systemic disorder associated with inflammation, infection, or coagulation identified. Focal retinal phlebitis appears to be an uncommon and unique entity that produces macular edema and ultimately branch retinal vein occlusion. In our patients, the focal phlebitis and venous occlusion did not occur at an arteriovenous crossing, which is the typical site for branch retinal venous occlusive disease. This suggests that our cases represent a distinct clinical entity, which starts with a focal abnormality in the wall of a retinal venule, resulting in surrounding exudation and, ultimately, ends with branch retinal vein occlusion.

Mountaineering fatalities on Mount Rainier, Washington, 1977-1997: autopsy and investigative findings.

PubMed

Christensen, E D; Lacsina, E Q

1999-06-01

Mountain climbing is a popular recreational activity with a growing number of participants and associated fatalities. To define the characteristics of these fatal incidents and the typical autopsy findings in the victims, we reviewed the autopsy and investigative findings of all fatalities that occurred on Mount Rainier from 1977 through 1997. A total of 50 deaths occurred in 29 separate incidents. Fifty-eight percent of accident victims died as the result of a fall; another 34% died as a result of an avalanche. The incidents leading to death occurred at an average altitude of 3652 m (11,977 feet); range, 2073 to 4389 m (6800-14,400 feet). The average age of the victims was 31.2 years (range, 17-55 years), and 47 of the 50 were men (94%). Bodies were not recovered in 13 cases (26%). Autopsies were performed in 30 of the remaining 37 cases. At autopsy, the cause of death was ascribed to multiple injuries in 12 cases (40%), isolated head and neck injuries in 7 cases (23%), and chest injuries in 1 case (3%). Asphyxia and hypothermia were the cause of death in 8 cases (27%) and 2 cases (7%), respectively. The frequency of specific injuries is presented by anatomic region. The unique autopsy and investigative features of mountaineering deaths are discussed.

Gerstmann-Straüssler-Scheinker disease: novel PRNP mutation and VGKC-complex antibodies.

PubMed

Jones, Matthew; Odunsi, Sola; du Plessis, Daniel; Vincent, Angela; Bishop, Matthew; Head, Mark W; Ironside, James W; Gow, David

2014-06-10

To describe a unique case of Gerstmann-Straüssler-Scheinker (GSS) disease caused by a novel prion protein (PRNP) gene mutation and associated with strongly positive voltage-gated potassium channel (VGKC)-complex antibodies (Abs). Clinical data were gathered from retrospective review of the case notes. Postmortem neuropathologic examination was performed, and DNA was extracted from frozen brain tissue for full sequence analysis of the PRNP gene. The patient was diagnosed in life with VGKC-complex Ab-associated encephalitis based on strongly positive VGKC-complex Ab titers but no detectable LGI1 or CASPR2 Abs. He died despite 1 year of aggressive immunosuppressive treatment. The neuropathologic diagnosis was GSS disease, and a novel mutation, P84S, in the PRNP gene was found. VGKC-complex Abs are described in an increasingly broad range of clinical syndromes, including progressive encephalopathies, and may be amenable to treatment with immunosuppression. However, the failure to respond to aggressive immunotherapy warns against VGKC-complex Abs being pathogenic, and their presence does not preclude the possibility of prion disease. © 2014 American Academy of Neurology.

Gerstmann-Straüssler-Scheinker disease

PubMed Central

Jones, Matthew; Odunsi, Sola; du Plessis, Daniel; Vincent, Angela; Bishop, Matthew; Head, Mark W.; Ironside, James W.

2014-01-01

Objective: To describe a unique case of Gerstmann-Straüssler-Scheinker (GSS) disease caused by a novel prion protein (PRNP) gene mutation and associated with strongly positive voltage-gated potassium channel (VGKC)-complex antibodies (Abs). Methods: Clinical data were gathered from retrospective review of the case notes. Postmortem neuropathologic examination was performed, and DNA was extracted from frozen brain tissue for full sequence analysis of the PRNP gene. Results: The patient was diagnosed in life with VGKC-complex Ab–associated encephalitis based on strongly positive VGKC-complex Ab titers but no detectable LGI1 or CASPR2 Abs. He died despite 1 year of aggressive immunosuppressive treatment. The neuropathologic diagnosis was GSS disease, and a novel mutation, P84S, in the PRNP gene was found. Conclusion: VGKC-complex Abs are described in an increasingly broad range of clinical syndromes, including progressive encephalopathies, and may be amenable to treatment with immunosuppression. However, the failure to respond to aggressive immunotherapy warns against VGKC-complex Abs being pathogenic, and their presence does not preclude the possibility of prion disease. PMID:24814844

Rare case of massive congenital bilateral chylothorax in a hydropic fetus with true mosaicism 47,XXX/46,XX.

PubMed

Cremonini, Giorgio; Poggi, Alice; Capucci, Roberta; Vesce, Fortunato; Patella, Alfredo; Marci, Roberto

2014-01-01

Fetal congenital chylothorax is a rare condition that occurs sporadically or can be associated with abnormal karyotype or structural chromosomal anomalies. We report a unique case of fetal congenital bilateral chylothorax associated with mosaicism 47,XXX/46,XX. A female fetus affected by massive bilateral hydrothorax and ascites was diagnosed at 34(+1) weeks of gestation. Previous ultrasonographic exams were completely normal. Immune causes of hydrops were excluded. Elective cesarean section was performed soon after bilateral thoracocentesis. The analysis of drained pleural fluid revealed its lymphatic nature. The fetal karyotyping, performed on chorionic villi at the 11th week, had shown mosaicism 47,XXX/46,XX, later confirmed in the newborn's blood. We hypothesized that chylothorax may be part of the phenotypic spectrum of 47 XXX karyotype and we suggest an ultrasound follow-up of the fetus at closer intervals than the routine timing for this condition, even if it is not usually characterized by severe phenotypic features. © 2013 The Authors. Journal of Obstetrics and Gynaecology Research © 2013 Japan Society of Obstetrics and Gynecology.

Zika Virus as an Emerging Global Pathogen

PubMed Central

Beckham, J. David; Pastula, Daniel M.; Massey, Aaron; Tyler, Kenneth L.

2016-01-01

IMPORTANCE Zika virus (ZIKV) is an emerging arthropod-borne virus (arbovirus) in the genus Flavivirus that has caused a widespread outbreak of febrile illness, is associated with neurological disease, and has spread across the Pacific to the Americas in a short period. OBSERVATIONS In this review, we discuss what is currently known about ZIKV, neuroimmunologic complications, and the impact on global human health. Zika virus spread across Africa and Asia in part owing to unique genomic evolutionary conditions and pressures resulting in specific human disease manifestations, complications, and pathogenesis. Recent data suggest that acute ZIKV infection in pregnant women may result in acute infection of fetal tissue and brain tissue, causing microcephaly and potentially severe debilitation of the infant or even death of the fetus. Cases of acute ZIKV are also associated with Guillain-Barré syndrome. With the increased number of cases, new complications such as ocular involvement and sexual transmission have been reported. CONCLUSIONS AND RELEVANCE Zika virus is an emerging viral pathogen with significant consequences on human health throughout the world. Ongoing research into this pathogen is urgently needed to produce viable vaccine and therapeutic options. PMID:27183312

Reproductive risk factor associations with lobular and ductal carcinoma in the Carolina Breast Cancer Study.

PubMed

Williams, Lindsay A; Nichols, Hazel B; Hoadley, Katherine A; Tse, Chiu Kit; Geradts, Joseph; Bell, Mary Elizabeth; Perou, Charles M; Love, Michael I; Olshan, Andrew F; Troester, Melissa A

2018-01-01

Invasive lobular breast tumors display unique reproductive risk factor profiles. Lobular tumors are predominantly Luminal A subtype, and it is unclear whether reported risk factor associations are independent of molecular subtype. Polytomous logistic regression was used to estimate odds ratios (ORs) and 95% confidence intervals (95% CIs) for the associations between risk factors and histologic subtype [ductal (n = 2,856), lobular (n = 326), and mixed ductal-lobular (n = 473)] in the Carolina Breast Cancer Study (1993-2013). Three-marker immunohistochemical clinical subtypes were defined as Luminal A (ER+ or PR+/HER2-), Luminal B (ER+ or PR+/HER2+), Triple Negative (ER-/PR-/HER2-), and HER2+ (ER-/PR-/HER2+). In case-case analyses compared to ductal, lobular tumors were significantly associated with lactation duration > 12 months [OR 1.86, 95% CI (1.33-2.60)], age at first birth ≥ 26 years [OR: 1.35, 95% CI: (1.03-1.78)], and current oral contraceptive use [OR: 1.86, 95% CI: (1.08-3.20)]. Differences in risk factor associations between ductal and lobular tumors persisted after restricting to Luminal A subtype. Lobular tumors were associated with older age at first birth, increased lactation duration, and current oral contraceptive use. Etiologic heterogeneity by histology persisted after restricting to Luminal A subtype, suggesting both tumor histology and intrinsic subtype play integral parts in breast cancer risk.

Illusions of integration are subjectively impenetrable: Phenomenological experience of Lag 1 percepts during dual-target RSVP.

PubMed

Simione, Luca; Akyürek, Elkan G; Vastola, Valentina; Raffone, Antonino; Bowman, Howard

2017-05-01

We investigated the relationship between different kinds of target reports in a rapid serial visual presentation task, and their associated perceptual experience. Participants reported the identity of two targets embedded in a stream of stimuli and their associated subjective visibility. In our task, target stimuli could be combined together to form more complex ones, thus allowing participants to report temporally integrated percepts. We found that integrated percepts were associated with high subjective visibility scores, whereas reports in which the order of targets was reversed led to a poorer perceptual experience. We also found a reciprocal relationship between the chance of the second target not being reported correctly and the perceptual experience associated with the first one. Principally, our results indicate that integrated percepts are experienced as a unique, clear perceptual event, whereas order reversals are experienced as confused, similar to cases in which an entirely wrong response was given. Copyright © 2017 Elsevier Inc. All rights reserved.

Significance of genome-wide association studies in molecular anthropology.

PubMed

Gupta, Vipin; Khadgawat, Rajesh; Sachdeva, Mohinder Pal

2009-12-01

The successful advent of a genome-wide approach in association studies raises the hopes of human geneticists for solving a genetic maze of complex traits especially the disorders. This approach, which is replete with the application of cutting-edge technology and supported by big science projects (like Human Genome Project; and even more importantly the International HapMap Project) and various important databases (SNP database, CNV database, etc.), has had unprecedented success in rapidly uncovering many of the genetic determinants of complex disorders. The magnitude of this approach in the genetics of classical anthropological variables like height, skin color, eye color, and other genome diversity projects has certainly expanded the horizons of molecular anthropology. Therefore, in this article we have proposed a genome-wide association approach in molecular anthropological studies by providing lessons from the exemplary study of the Wellcome Trust Case Control Consortium. We have also highlighted the importance and uniqueness of Indian population groups in facilitating the design and finding optimum solutions for other genome-wide association-related challenges.

Effect of weather on pedestrian trip count and duration: City-scale evaluations using mobile phone application data.

PubMed

Vanky, Anthony P; Verma, Santosh K; Courtney, Theodore K; Santi, Paolo; Ratti, Carlo

2017-12-01

We examined the association between meteorological (weather) conditions in a given locale and pedestrian trips frequency and duration, through the use of locative digital data. These associations were determined for seasonality, urban microclimate, and commuting. We analyzed GPS data from a broadly available activity tracking mobile phone application that automatically recorded 247,814 trips from 5432 unique users in Boston and 257,697 trips from 8256 users in San Francisco over a 50-week period. Generally, we observed increased air temperature and the presence of light cloud cover had a positive association with hourly trip frequency in both cities, regardless of seasonality. Temperature and weather conditions generally showed greater associations with weekend and discretionary travel, than with weekday and required travel. Weather conditions had minimal association with the duration of the trip, once the trip was initiated. The observed associations in some cases differed between the two cities. Our study illustrates the opportunity that emerging technology presents to study active transportation, and exposes new methods to wider consideration in preventive medicine.

Bov-tA short interspersed nucleotide element sequences in circulating nucleic acids from sera of cattle with bovine spongiform encephalopathy (BSE) and sera of cattle exposed to BSE.

PubMed

Schütz, Ekkehard; Urnovitz, Howard B; Iakoubov, Leonid; Schulz-Schaeffer, Walter; Wemheuer, Wilhelm; Brenig, Bertram

2005-07-01

Circulating nucleic acids (CNA) are known to be enriched in repetitive DNA sequences in humans. Here, bovine sera CNA were analyzed to determine if cell stress-related short interspersed nucleotide elements (SINEs) could be detected in sera from cattle associated with bovine spongiform encephalopathy (BSE). Nucleic acids were extracted, amplified, cloned, and sequenced from the sera of protease-resistant prion protein (PrP(res))-positive cattle (n = 2) and sera from BSE-cohort cows (n = 6); 150 out of 163 clones revealed the presence of, on average, an 80-bp sequence from the 3' region of Bov-tA SINE. A PCR protocol was developed that differentially identified SINE-associated CNA in BSE-exposed versus normal cattle. CNA were extracted from a serum vesicular fraction after controlled blood collection and processing procedures. Sera from four confirmed cases of BSE, 137 BSE-exposed cohort animals associated with eight confirmed BSE cases, and 845 healthy, PrP(res)-negative control cows were tested. All four sera from confirmed BSE cases were repeatedly reactive in the assay. BSE-exposed cohorts had a 100-fold higher occurrence of repeatedly reactive individuals per cohort (average = 63%; range = 33% to 91%), compared to healthy controls (average = 0.6%; P < 0.001). This study shows that BSE-confirmed and cohort animals possess a unique profile of SINE-associated serum CNA that can be utilized as a marker that highly correlates to BSE exposure.

Bov-tA Short Interspersed Nucleotide Element Sequences in Circulating Nucleic Acids from Sera of Cattle with Bovine Spongiform Encephalopathy (BSE) and Sera of Cattle Exposed to BSE

PubMed Central

Schütz, Ekkehard; Urnovitz, Howard B.; Iakoubov, Leonid; Schulz-Schaeffer, Walter; Wemheuer, Wilhelm; Brenig, Bertram

2005-01-01

Circulating nucleic acids (CNA) are known to be enriched in repetitive DNA sequences in humans. Here, bovine sera CNA were analyzed to determine if cell stress-related short interspersed nucleotide elements (SINEs) could be detected in sera from cattle associated with bovine spongiform encephalopathy (BSE). Nucleic acids were extracted, amplified, cloned, and sequenced from the sera of protease-resistant prion protein (PrPres)-positive cattle (n = 2) and sera from BSE-cohort cows (n = 6); 150 out of 163 clones revealed the presence of, on average, an 80-bp sequence from the 3′ region of Bov-tA SINE. A PCR protocol was developed that differentially identified SINE-associated CNA in BSE-exposed versus normal cattle. CNA were extracted from a serum vesicular fraction after controlled blood collection and processing procedures. Sera from four confirmed cases of BSE, 137 BSE-exposed cohort animals associated with eight confirmed BSE cases, and 845 healthy, PrPres-negative control cows were tested. All four sera from confirmed BSE cases were repeatedly reactive in the assay. BSE-exposed cohorts had a 100-fold higher occurrence of repeatedly reactive individuals per cohort (average = 63%; range = 33% to 91%), compared to healthy controls (average = 0.6%; P < 0.001). This study shows that BSE-confirmed and cohort animals possess a unique profile of SINE-associated serum CNA that can be utilized as a marker that highly correlates to BSE exposure. PMID:16002628

The Effect of Resident Involvement in Pelvic Prolapse Surgery: A Retrospective Study From a Nationwide Inpatient Sample.

PubMed

Caveney, Maxx; Matthews, Catherine; Mirzazadeh, Majid

The primary aim of this study was to assess the effect of resident involvement on perioperative complication rates in pelvic organ prolapse surgery using the National Surgical Quality Improvement database. All pelvic organ prolapse operations from 2006 to 2012 were identified and dichotomized by resident participation. Preoperative characteristics and 30-day perioperative outcomes were compared using χ and Student t test. To control for nonrandomization of cases, propensity scores representing the probability of resident involvement as a function of a case's comorbidities were calculated. They were then divided into quartiles, and because of equal probabilities for the first and second quartiles, 3 groups were created (Q1/2, Q3, and Q4), followed by substratification and analysis. As a control, complications of transurethral resection of prostate and nephrectomy were dichotomized by resident involvement. We identified 2637 cases. Resident involvement was associated with increased postoperative urinary tract infections, perioperative complications, and procedure length. After stratification by propensity scoring, the following unique findings occurred in each group: in the first group, resident involvement was associated with increased rates of readmission, pulmonary embolism, and sepsis; in the second and third groups, resident involvement was associated with increased rates of superficial surgical site infection. Resident involvement in nephrectomy observed increased perioperative complications and procedural length. In prostate resection, increased procedure lengths and decreased postoperative length of stay were observed. Resident involvement in pelvic organ prolapse surgery was associated with an increased risk of adverse outcomes. A similar effect was seen with nephrectomy but not with a more simple endoscopic urologic procedure.

Identification of Four Novel Loci in Asthma in European American and African American Populations.

PubMed

Almoguera, Berta; Vazquez, Lyam; Mentch, Frank; Connolly, John; Pacheco, Jennifer A; Sundaresan, Agnes S; Peissig, Peggy L; Linneman, James G; McCarty, Catherine A; Crosslin, David; Carrell, David S; Lingren, Todd; Namjou-Khales, Bahram; Harley, John B; Larson, Eric; Jarvik, Gail P; Brilliant, Murray; Williams, Marc S; Kullo, Iftikhar J; Hysinger, Erik B; Sleiman, Patrick M A; Hakonarson, Hakon

2017-02-15

Despite significant advances in knowledge of the genetic architecture of asthma, specific contributors to the variability in the burden between populations remain uncovered. To identify additional genetic susceptibility factors of asthma in European American and African American populations. A phenotyping algorithm mining electronic medical records was developed and validated to recruit cases with asthma and control subjects from the Electronic Medical Records and Genomics network. Genome-wide association analyses were performed in pediatric and adult asthma cases and control subjects with European American and African American ancestry followed by metaanalysis. Nominally significant results were reanalyzed conditioning on allergy status. The validation of the algorithm yielded an average of 95.8% positive predictive values for both cases and control subjects. The algorithm accrued 21,644 subjects (65.83% European American and 34.17% African American). We identified four novel population-specific associations with asthma after metaanalyses: loci 6p21.31, 9p21.2, and 10q21.3 in the European American population, and the PTGES gene in African Americans. TEK at 9p21.2, which encodes TIE2, has been shown to be involved in remodeling the airway wall in asthma, and the association remained significant after conditioning by allergy. PTGES, which encodes the prostaglandin E synthase, has also been linked to asthma, where deficient prostaglandin E 2 synthesis has been associated with airway remodeling. This study adds to understanding of the genetic architecture of asthma in European Americans and African Americans and reinforces the need to study populations of diverse ethnic backgrounds to identify shared and unique genetic predictors of asthma.

The impact of coercion on services from the perspective of mental health care consumers with co-occurring disorders.

PubMed

Stanhope, Victoria; Marcus, Steven; Solomon, Phyllis

2009-02-01

Disengagement from services by people with serious mental illnesses continues to be a major challenge for the mental health system. Assertive community treatment combined with Housing First services is an intervention targeted toward consumers whom the system has failed to engage. The processes involved in engaging and maintaining consumers in mental health services play an important role but remain an understudied aspect of the intervention. This study examined the social interaction between consumers and case managers from the perspective of consumers. Seventy service contacts between unique consumer-case manager dyads were sampled. Consumers with co-occurring serious mental illness and substance use disorders completed interviews after each service contact. They provided information on sociodemographic characteristics, service contact characteristics, consumer-provider relationship, utilization of coercive strategies, perceived coercion, and service contact evaluation. Multivariate regression analyses examined the association of consumer-provider relationship and perceived coercion with service contact evaluation. Consumer-provider relationship was negatively associated with perceived coercion (effect size=.08). Perceived coercion was negatively associated with service contact evaluation (effect size=.34). Perceived coercion was positively associated with time in the program (effect size=.17) and negatively associated with length of the service contact (effect size=.14). Effect sizes ranging from .08 to .34 are typically considered small to medium. Findings demonstrate that for consumers, a positive response to service contacts indicated that they did not feel coerced. With consumers whose connection to services is tenuous, an immediate positive response to service contacts may be vital to maintain engagement. Research is needed to identify supportive case manager strategies that facilitate relationship building.

Towards building a disease-phenotype knowledge base: extracting disease-manifestation relationship from literature

PubMed Central

Xu, Rong; Li, Li; Wang, QuanQiu

2013-01-01

Motivation: Systems approaches to studying phenotypic relationships among diseases are emerging as an active area of research for both novel disease gene discovery and drug repurposing. Currently, systematic study of disease phenotypic relationships on a phenome-wide scale is limited because large-scale machine-understandable disease–phenotype relationship knowledge bases are often unavailable. Here, we present an automatic approach to extract disease–manifestation (D-M) pairs (one specific type of disease–phenotype relationship) from the wide body of published biomedical literature. Data and Methods: Our method leverages external knowledge and limits the amount of human effort required. For the text corpus, we used 119 085 682 MEDLINE sentences (21 354 075 citations). First, we used D-M pairs from existing biomedical ontologies as prior knowledge to automatically discover D-M–specific syntactic patterns. We then extracted additional pairs from MEDLINE using the learned patterns. Finally, we analysed correlations between disease manifestations and disease-associated genes and drugs to demonstrate the potential of this newly created knowledge base in disease gene discovery and drug repurposing. Results: In total, we extracted 121 359 unique D-M pairs with a high precision of 0.924. Among the extracted pairs, 120 419 (99.2%) have not been captured in existing structured knowledge sources. We have shown that disease manifestations correlate positively with both disease-associated genes and drug treatments. Conclusions: The main contribution of our study is the creation of a large-scale and accurate D-M phenotype relationship knowledge base. This unique knowledge base, when combined with existing phenotypic, genetic and proteomic datasets, can have profound implications in our deeper understanding of disease etiology and in rapid drug repurposing. Availability: http://nlp.case.edu/public/data/DMPatternUMLS/ Contact: rxx@case.edu PMID:23828786

Left ventricular aneurysms in hypertrophic cardiomyopathy with midventricular obstruction: A systematic review of literature.

PubMed

Elsheshtawy, Moustafa O; Mahmoud, Ahmed N; Abdelghany, Mahmoud; Suen, Ida H; Sadiq, Adnan; Shani, Jacob

2018-05-22

Hypertrophic cardiomyopathy (HCM) with or without left ventricular apical aneurysm (LVA) had been studied in the past. Midventricular obstruction associated with HCM and LVA is a unique entity that has not been distinguished previously as a separate phenotypic disease in HCM patients. A systematic review of Pubmed and Google Scholar was conducted from inception until September 2017 for all observational studies conducted on HCM with midventricular obstruction and LVA. A total of 94 patients from 39 studies were included in our analysis. The mean age of the patients was 58.05 ± 11.76 years with 59.6% being males. The most common electrocardiographic finding was T wave inversion occurring in 13.8% of the cases followed by ST elevation (9.5%). Maximal left ventricle (LV) wall thickness was reported 18.89 ± 5.19 mm on transthoracic echocardiography and paradoxical Jet flow was detected in 29.8% of patients. Beta-blockers (58.5%) were the most common drug therapy at baseline and amiodarone (10.6%) was the most common antiarrhythmic used for ventricular tachycardia (VT). The most common complication, ventricular tachycardia, occurred in 39.3% of cases and the incidence of all-cause mortality was 13.8 % over 16 ± 20.1 months follow-up. Implantable cardioverter defibrillator was used in 37.2% of patients with 25.7% of patients with ICD received appropriate shock therapy. HCM with LVA and midventricular obstruction is a unique entity that appears to be associated with high incidence of morbidity and mortality. Thus, early diagnosis and therapeutic intervention is recommended for management of this condition. This article is protected by copyright. All rights reserved. This article is protected by copyright. All rights reserved.

Cuckoos host range is associated positively with distribution range and negatively with evolutionary uniqueness.

PubMed

Morelli, Federico; Benedetti, Yanina; Møller, Anders Pape; Liang, Wei; Carrascal, Luis M

2018-05-01

The evolutionary distinctiveness (ED) score is a measure of phylogenetic isolation that quantifies the evolutionary uniqueness of a species. Here, we compared the ED score of parasitic and non-parasitic cuckoo species world-wide, to understand whether parental care or parasitism represents the largest amount of phylogenetic uniqueness. Next, we focused only on 46 cuckoo species characterized by brood parasitism with a known number of host species, and we explored the associations among ED score, number of host species and breeding range size for these species. We assessed these associations using phylogenetic generalized least squares (PGLS) models, taking into account the phylogenetic signal. Parasitic cuckoo species were not more unique in terms of ED than non-parasitic species. However, we found a significant negative association between the evolutionary uniqueness and host range and a positive correlation between the number of host species and range size of parasitic cuckoos, probably suggesting a passive sampling of hosts by parasitic species as the breeding range broadens. The findings of this study showed that more generalist brood parasites occupied very different positions in a phylogenetic tree, suggesting that they have evolved independently within the Cuculiformes order. Finally, we demonstrated that specialist cuckoo species also represent the most evolutionarily unique species in the order of Cuculiformes. © 2018 The Authors. Journal of Animal Ecology © 2018 British Ecological Society.

On the Materials Science of Nature's Arms Race.

PubMed

Liu, Zengqian; Zhang, Zhefeng; Ritchie, Robert O

2018-06-05

Biological material systems have evolved unique combinations of mechanical properties to fulfill their specific function through a series of ingenious designs. Seeking lessons from Nature by replicating the underlying principles of such biological materials offers new promise for creating unique combinations of properties in man-made systems. One case in point is Nature's means of attack and defense. During the long-term evolutionary "arms race," naturally evolved weapons have achieved exceptional mechanical efficiency with a synergy of effective offense and persistence-two characteristics that often tend to be mutually exclusive in many synthetic systems-which may present a notable source of new materials science knowledge and inspiration. This review categorizes Nature's weapons into ten distinct groups, and discusses the unique structural and mechanical designs of each group by taking representative systems as examples. The approach described is to extract the common principles underlying such designs that could be translated into man-made materials. Further, recent advances in replicating the design principles of natural weapons at differing lengthscales in artificial materials, devices and tools to tackle practical problems are revisited, and the challenges associated with biological and bioinspired materials research in terms of both processing and properties are discussed. © 2018 WILEY-VCH Verlag GmbH & Co. KGaA, Weinheim.

Ecological Structure of Recent and Last Glacial Mammalian Faunas in Northern Eurasia: The Case of Altai-Sayan Refugium

PubMed Central

Pavelková Řičánková, Věra; Robovský, Jan; Riegert, Jan

2014-01-01

Pleistocene mammalian communities display unique features which differ from present-day faunas. The paleocommunities were characterized by the extraordinarily large body size of herbivores and predators and by their unique structure consisting of species now inhabiting geographically and ecologically distinct natural zones. These features were probably the result of the unique environmental conditions of ice age ecosystems. To analyze the ecological structure of Last Glacial and Recent mammal communities we classified the species into biome and trophic-size categories, using Principal Component analysis. We found a marked similarity in ecological structure between Recent eastern Altai-Sayan mammalian assemblages and comparable Pleistocene faunas. The composition of Last Glacial and Recent eastern Altai-Sayan assemblages were characterized by the occurrence of large herbivore and predator species associated with steppe, desert and alpine biomes. These three modern biomes harbor most of the surviving Pleistocene mammals. None of the analyzed Palearctic Last Glacial faunas showed affinity to the temperate forest, taiga, or tundra biome. The Eastern part of the Altai-Sayan region could be considered a refugium of the Last Glacial-like mammalian assemblages. Glacial fauna seems to persist up to present in those areas where the forest belt does not separate alpine vegetation from the steppes and deserts. PMID:24454791

A case for the protection of saline and hypersaline environments: a microbiological perspective.

PubMed

Paul, Varun G; Mormile, Melanie R

2017-08-01

Saline and hypersaline environments are known for their unique geochemical properties, microbial populations and aesthetic appeal. Microbial activities and a spectrum of diversity seen in hypersaline environments are distinct with many novel species being identified and reported on a regular basis. Many distinguishing characteristics about the adaptation, morphology, evolutionary history, and potential environmental and biotechnological applications of these organisms are continually investigated. An abundance of interdisciplinary activities and opportunities exist to explore and understand the importance of these environments that potentially hold promising solutions for current and future global issues. Therefore, it is critical to conserve these unique environments and limit the damage inflicted by anthropogenic influences. Increased salinization due to water diversions, undesired freshening, extensive mineral extraction, sewage effluents, pollution due to agricultural runoff and industrial processes, urbanization, and global climate change are factors negatively affecting hypersaline lakes and their surrounding environments. If these harmful effects continue to proceed at the current or even accelerated rates, irrevocable consequences for these environments will occur, resulting in the loss of potential opportunities to gain new knowledge of the biogeochemistry as well as beneficial microbial populations closely associated with these unique and interesting environments. © FEMS 2017. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com.

Paracentric inversion-associated t(8;21) variant in de novo acute myelogenous leukemia: characteristic patterns of conventional cytogenetics, FISH, and multicolor banding analysis.

PubMed

Park, Tae Sung; Song, Jaewoo; Lee, Kyung-A; Min, Yoo Hong; Lee, Sang-Guk; Park, Yongjung; Kim, Juwon; Lee, Eun Yup; Choi, Jong Rak

2008-05-01

Acute myelogenous leukemia (AML) with t(8;21)(q22;q22) demonstrates unique clinico-pathologic disease entity in patients with hematologic malignancies. The t(8;21), which results in fusion of the AML1 gene on 21q22 and the ETO gene on 8q22 on a molecular level, is one of the most common nonrandom chromosomal changes, and it is found in about 5-12% of patients with AML. Among these cases, complex variants involving chromosomes 8 and 21, as well as a third or fourth chromosome, account for approximately 6-10% of patients with an AML1/ETO chimeric gene, and about 100 variant cases with AML1/ETO fusion transcript have been reported in the literature. Here, we describe a rare case report of reciprocal paracentric inversion-associated t(8;21) variant in a 28-year old male patient with de novo AML. The abnormal results of conventional cytogenetics and interphase fluorescent in situ hybridization in this patient drove us to perform further studies and a literature review. This report emphasizes the value of "conventional" cytogenetics, as well as "newly developed" molecular cytogenetic methods in the diagnosis of rare complex t(8;21) variant in patients with AML. Copyright 2008 Elsevier Inc.

Reversal of orbital angular momentum arising from an extreme Doppler shift

PubMed Central

Toninelli, Ermes; Horsley, Simon A. R.; Hendry, Euan; Phillips, David B.; Padgett, Miles J.

2018-01-01

The linear Doppler shift is familiar as the rise and fall in pitch of a siren as it passes by. Less well known is the rotational Doppler shift, proportional to the rotation rate between source and receiver, multiplied by the angular momentum carried by the beam. In extreme cases the Doppler shift can be larger than the rest-frame frequency and for a red shift, the observed frequency then becomes “negative.” In the linear case, this effect is associated with the time reversal of the received signal, but it can be observed only with supersonic relative motion between the source and receiver. However, the rotational case is different; if the radius of rotation is smaller than the wavelength, then the velocities required to observe negative frequencies are subsonic. Using an acoustic source at ≈100 Hz we create a rotational Doppler shift larger than the laboratory-frame frequency. We observe that once the red-shifted wave passes into the “negative frequency” regime, the angular momentum associated with the sound is reversed in sign compared with that of the laboratory frame. These low-velocity laboratory realizations of extreme Doppler shifts have relevance to superoscillatory fields and offer unique opportunities to probe interactions with rotating bodies and aspects of pseudorelativistic frame translation. PMID:29581257

Chemotherapy-induced hypocalcemia.

PubMed

Ajero, Pia Marie E; Belsky, Joseph L; Prawius, Herbert D; Rella, Vincent

2010-01-01

To present a unique case of transient, asymptomatic chemotherapy-induced hypocalcemia not attributable to hypomagnesemia or tumor lysis syndrome and review causes of hypocalcemia related to cancer with and without use of chemotherapy. We present a case detailing the clinical and laboratory findings of a patient who had severe hypocalcemia during chemotherapy and discuss causes of hypocalcemia with an extensive literature review of chemotherapeutic agents associated with this biochemical abnormality. In a 90-year-old man, hypocalcemia developed during 2 courses of chemotherapy for Hodgkin lymphoma, with partial recovery between courses and normal serum calcium 10 months after completion of treatment. Magnesium, vitamin D, and parathyroid hormone levels were low normal. There was no evidence of tumor lysis syndrome. Of the various agents administered, vinca alkaloids seemed the most likely cause. Serial testing suggested that the underlying mechanism may have been acquired, reversible hypoparathyroidism. No other similar case was found in the published literature. The severe hypocalcemia in our patient could not be attributed to hypomagnesemia or tumor lysis syndrome, and it was clearly associated with the timing of his chemotherapeutic regimen. Possibilities include direct parathyroid hormone suppression or alteration of calcium sensing by the chemotherapeutic drugs. Serum calcium surveillance before and during chemotherapeutic management of cancer patients may reveal more instances and provide insight into the exact mechanism of this lesser known yet striking complication.

Early Cerebellar Network Shifting in Spinocerebellar Ataxia Type 6

PubMed Central

Falcon, M.I.; Gomez, C.M.; Chen, E.E.; Shereen, A.; Solodkin, A.

2016-01-01

Spinocerebellar ataxia 6 (SCA6), an autosomal dominant degenerative disease, is characterized by diplopia, gait ataxia, and incoordination due to severe progressive degeneration of Purkinje cells in the vestibulo- and spinocerebellum. Ocular motor deficits are common, including difficulty fixating on moving objects, nystagmus and disruption of smooth pursuit movements. In presymptomatic SCA6, there are alterations in saccades and smooth-pursuit movements. We sought to assess functional and structural changes in cerebellar connectivity associated with a visual task, hypothesizing that gradual changes would parallel disease progression. We acquired functional magnetic resonance imaging and diffusion tensor imaging data during a passive smooth-pursuit task in 14 SCA6 patients, representing a range of disease duration and severity, and performed a cross-sectional comparison of cerebellar networks compared with healthy controls. We identified a shift in activation from vermis in presymptomatic individuals to lateral cerebellum in moderate-to-severe cases. Concomitantly, effective connectivity between regions of cerebral cortex and cerebellum was at its highest in moderate cases, and disappeared in severe cases. Finally, we noted structural differences in the cerebral and cerebellar peduncles. These unique results, spanning both functional and structural domains, highlight widespread changes in SCA6 and compensatory mechanisms associated with cerebellar physiology that could be utilized in developing new therapies. PMID:26209844

Multi-Drug-Resistant Klebsiella pneumoniae Pancreatitis: A New Challenge in a Serious Surgical Infection

PubMed Central

Tugal, Derin; Lynch, Melanie; Hujer, Andrea M.; Rudin, Susan; Perez, Federico

2015-01-01

Abstract Background: Klebsiella pneumoniae is an important cause of nosocomial infections, but its role in severe acute pancreatitis (SAP) is not well defined. Few cases of K. pneumoniae associated SAP have been reported. Due to the emergence of extended-spectrum beta-lactamases (ESBLs) and carbapenemases, treatment of multidrug-resistant (MDR) K. pneumoniae presents a challenge. Tigecycline and colistin have gained recent attention for their broad-spectrum antimicrobial activity. Methods: We describe a case of SAP due to K. pneumoniae bearing K. pneumoniae carbapenemase (KPC) treated successfully with colistin plus tigecycline and offer a review of similar experiences published in the literature. Results: The case reported herein required surgical drainage of multiple pancreatic abscesses and treatment with tigecycline and colistin. Our comparative analysis revealed a number of unique features associated with SAP due to K. pneumoniae: 1) underlying pancreatic injury, 2) multiple drug resistance determinants and virulence factors that complicate treatment, and 3) surgical debridement as a requirement for cure. Conclusion: As the prevalence of K. pneumoniae bearing KPC continues to increase in the healthcare setting, SAP caused by this MDR pathogen will become more common. Tigecycline plus colistin was a successful antibiotic regimen for the treatment of SAP due to K. pneumoniae bearing KPC. PMID:24850293

ALK-positive large B-cell lymphoma: identification of EML4-ALK and a review of the literature focusing on the ALK immunohistochemical staining pattern.

PubMed

Sakamoto, Kana; Nakasone, Hideki; Togashi, Yuki; Sakata, Seiji; Tsuyama, Naoko; Baba, Satoko; Dobashi, Akito; Asaka, Reimi; Tsai, Chien-Chen; Chuang, Shih-Sung; Izutsu, Koji; Kanda, Yoshinobu; Takeuchi, Kengo

2016-04-01

Anaplastic lymphoma kinase-positive large B-cell lymphoma (ALK+LBCL) is a rare, aggressive B-cell lymphoma with ALK fusion genes. Histopathologically, the ALK immunohistochemical staining pattern is suggestive of the fusion partner of ALK. Here, we examined an ALK+LBCL case showing a unique diffuse cytoplasmic ALK staining pattern and identified EML4-ALK, which has not previously been reported in ALK+LBCL. Furthermore, to clarify whether the prognosis differs depending on the staining pattern, we reviewed 112 previously reported cases, and analyzed immunohistochemical markers and clinical data stratified by the staining pattern. We found that ALK staining can be classified into a granular cytoplasmic staining (GCS) or a non-GCS patterns. Sixty-four adult cases for which both the ALK staining pattern and survival time were reported were further analyzed for survival trends. The non-GCS pattern was significantly associated with inferior overall survival (P = 0.031). This difference remained significant after adjusting for age and clinical stage (hazard ratio 5.08, 95 % CI 1.88-13.7, P = 0.0013). Given that the ALK immunohistochemical staining pattern is associated with the ALK fusion partner, the present results suggest that the prognosis for ALK+LBCL differs depending on the ALK fusion partner.

Dasatinib-Induced T-Cell-Mediated Colitis: A Case Report and Review of the Literature.

PubMed

Shanshal, Mohamed; Shakespeare, Andrew; Thirumala, Seshadri; Fenton, Boyd; Quick, Donald P

2016-01-01

Dasatinib is a potent inhibitor of the altered tyrosine kinase activity in disease states associated with BCR/ABL1. This agent has been shown to exhibit broad off-target kinase inhibition and immunomodulating properties. These effects may be responsible for dasatinib's unique side effects including a distinctive form of hemorrhagic colitis. We report a case of hemorrhagic colitis associated with dasatinib use in a patient with chronic myelogenous leukemia. Colon biopsies at the time of symptomatic colitis confirmed CD3+CD8+ T cell infiltration. The process rapidly resolved following drug discontinuation, but relapsed when rechallenged with a reduced dose of dasatinib. Colitis did not recur when the patient was treated with an alternative agent. A literature review of prior cases involving dasatinib-induced T-cell mediated colitis provides insight into commonalities that may facilitate the recognition and management of this entity. Most incidences occurred after a 3-month drug exposure and may be accompanied by large granular lymphocytes. The process uniformly resolves within a few days following drug discontinuation and will generally recur in a shorter period of time if the drug is reintroduced. Most patients will require an alternative agent, although select patients could be continued on dasatinib if other options are limited. © 2016 S. Karger AG, Basel.

‘IMPULSIVE PICA’: A NEW DIAGNOSTIC CATEGORY?

PubMed Central

Chowdhury, A.N.; Basu, Saikat

2002-01-01

Pica is an interesting psychiatric entity that merits special clinical attention. This report describes three cases of pica and calls for its separate nosological placement in clinical psychiatry. In the Diagnostic and statistical manual of mental disorders fourth edition (DSM-IV), pica is described as persistent eating of nonutritive substances for a period of at least 1 month which is inappropriate to the developmental level and not part of a culturally sanctioned practice (American Psychiatric Association, 1994). On the other hand, impulse-control disorders not elsewhere classified is defined as failure to resist an impulse, drive or temptation to perform an act that is harmful to the person or to others, feeling of an increasing sense of tension or arousal before committing the act and pleasure, gratification or relief at the time of committing the act or shortly thereafter (American Psychiatric Association, 1994). Regarding the aetiologies of Pica most contemporary literatures have cited various causative factors, e.g. normal exploratory orality of children, pregnancy, stress and conflicts, cultural beliefs, mental retardation, psychotic disorders and even nutritional deficiencies (Chatoor, 2000; Popper & West, 2001). Here, we report 3 atypical cases of Pica, attending outpatient department of the Institute of Psychiatry, Calcutta. These reported cases are unique in their time of onset, phenomenological progression and therapeutic responsiveness. PMID:21206603

Non-healing gastro-duodenal ulcer: A rare presentation of primary abdominal tuberculosis

PubMed Central

Merali, Nabeel; Chandak, Pankaj; Doddi, Sudeendra; Sinha, Prakash

2014-01-01

INTRODUCTION We present a case of primary gastrointestinal tuberculosis that has culminated in ulcer formation, in the absence of pulmonary involvement in an immunocompetent patient. PRESENTATION OF CASE A 28-year-old Asian male presented to casualty with a 1-week history of epigastric cramping abdominal pain and several episodes of non-bilious vomiting. The patient deteriorated clinically, becoming more cachectic and given his unexplained weight loss, an oesophageal-gastro-duodenal endoscopic imaging confirmed a duodenal ulcer. The biopsy of the non-healing ulcer was the hallmark of the disease, revealing evidence of granulomatous inflammation consistent with tuberculosis bacilli. DISCUSSION Gastrointestinal tuberculosis with ulceration is rare with respect to the oesophagus, stomach and duodenum. This case proves to be unique, as our patient had experienced primary isolated gastric tuberculosis in the absence of pulmonary tuberculosis in a healthy individual. Immunohistochemical staining, histopathology and radiological investigations have demonstrated their importance in confirming abdominal tuberculosis and the extent of bowel involvement. CONCLUSION This case has illustrated the difficulties associated with a prompt diagnosis of an unusual case of primary duodenal tuberculosis from chronic peptic ulcer disease in an immunocompetent patient. PMID:25506841

Transmission of the L-Zagreb mumps vaccine virus, Croatia, 2005-2008.

PubMed

Kaic, B; Gjenero-Margan, I; Aleraj, B; Ljubin-Sternak, S; Vilibic-Cavlek, T; Kilvain, S; Pavic, I; Stojanovic, D; Ilic, A

2008-04-17

We report on three cases of symptomatic transmission of the L-Zagreb mumps vaccine virus from three vaccinated children to five adult contacts. The five contact cases were parents of the vaccinated children and presented with parotitis and in one case also with aseptic meningitis. The etiology of the contacts' illness was determined by viral culture, genomic sequencing, serology and epidemiological linking. Two of the vaccinated children developed vaccine associated parotitis as an adverse event three weeks following immunization. Symptoms in contact cases developed five to seven weeks after the vaccination of the children. The five contact cases, as well as the three children with adverse events recovered completely. The children had been vaccinated with MMR vaccine produced by the Institute of Immunology Zagreb, each of them with a different lot. One of the possible explanations for these adverse events is that the very low levels of wild mumps virus circulation in the last decade, combined with waning immunity in those who received one dose of vaccine or suffered from mumps in childhood, resulted in susceptible young adults and that this unique epidemiological situation allows us to detect horizontal transmission of mumps vaccine virus.

Real-time genomic investigation underlying the public health response to a Shiga toxin-producing Escherichia coli O26:H11 outbreak in a nursery.

PubMed

Moran-Gilad, J; Rokney, A; Danino, D; Ferdous, M; Alsana, F; Baum, M; Dukhan, L; Agmon, V; Anuka, E; Valinsky, L; Yishay, R; Grotto, I; Rossen, J W A; Gdalevich, M

2017-10-01

Shiga toxin-producing Escherichia coli (STEC) is a significant cause of gastrointestinal infection and the haemolytic-uremic syndrome (HUS). STEC outbreaks are commonly associated with food but animal contact is increasingly being implicated in its transmission. We report an outbreak of STEC affecting young infants at a nursery in a rural community (three HUS cases, one definite case, one probable case, three possible cases and five carriers, based on the combination of clinical, epidemiological and laboratory data) identified using culture-based and molecular techniques. The investigation identified repeated animal contact (animal farming and petting) as a likely source of STEC introduction followed by horizontal transmission. Whole genome sequencing (WGS) was used for real-time investigation of the incident and revealed a unique strain of STEC O26:H11 carrying stx2a and intimin. Following a public health intervention, no additional cases have occurred. This is the first STEC outbreak reported from Israel. WGS proved as a useful tool for rapid laboratory characterization and typing of the outbreak strain and informed the public health response at an early stage of this unusual outbreak.

Bizarre parosteal osteochondromatous proliferation: a new cytogenetic subgroup characterized by inversion of chromosome 7.

PubMed

Broehm, Cory J; M'Lady, Gary; Bocklage, Thèrése; Wenceslao, Stella; Chafey, David

2013-11-01

Bizarre parosteal osteochondromatous proliferation (BPOP) is a rare, benign osteocartilaginous lesion characterized by a mixture of immature bone, bland spindle cells, and irregular, hypercellular cartilage undergoing calcification. A t(1;17)(q32;q21) has been reported as a unique recurring translocation identified in seven cases. Inversion of chromosome 7, inv(7)(q22q32), has also recently been described in one case of BPOP. We report an additional case of inv(7) in a BPOP occurring on the distal radius in a 36-year-old woman who presented with a slow-growing mass on the right wrist. Metaphase karyotype analysis of fresh tissue from tumor taken at resection revealed an inv(7)(q22q32). A review of the literature identified two additional cases of inv(7) (q21.1q31.3 and q22.1q31.3), both paired with inv(6)(p25q15), bringing the total number of cases of inv(7) in BPOP to four. These data suggest inv(7) may be another characteristic cytogenetic abnormality associated with and possibly contributing to the development of BPOP. Copyright © 2013 Elsevier Inc. All rights reserved.

A Novel Small Molecule Modulator of Amyloid Pathology.

PubMed

Lovell, Mark A; Lynn, Bert C; Fister, Shuling; Bradley-Whitman, Melissa; Murphy, M Paul; Beckett, Tina L; Norris, Christopher M

2016-05-04

Because traditional approaches to drug development for Alzheimer's disease are becoming increasingly expensive and in many cases disappointingly unsuccessful, alternative approaches are required to shift the paradigm. Following leads from investigations of dihydropyridine calcium channel blockers, we observed unique properties from a class of functionalized naphthyridines and sought to develop these as novel therapeutics that minimize amyloid pathology without the adverse effects associated with current therapeutics. Our data show methyl 2,4-dimethyl-5-oxo-5,6-dihydrobenzo[c][2,7]naphthyridine-1-carboxylate (BNC-1) significantly decreases amyloid burden in a well-established mouse model of amyloid pathology through a unique mechanism mediated by Elk-1, a transcriptional repressor of presenilin-1. Additionally, BNC-1 treatment leads to increased levels of synaptophysin and synapsin, markers of synaptic integrity, but does not adversely impact presenilin-2 or processing of Notch-1, thus avoiding negative off target effects associated with pan-gamma secretase inhibition. Overall, our data show BNC-1 significantly decreases amyloid burden and improves markers of synaptic integrity in a well-established mouse model of amyloid deposition by promoting phosphorylation and activation of Elk-1, a transcriptional repressor of presenilin-1 but not presenilin-2. These data suggest BNC-1 might be a novel, disease-modifying therapeutic that will alter the pathogenesis of Alzheimer's disease.

Avanex Unique Endophyte Technology: Reduced Insect Food Source at Airports.

PubMed

Pennell, Christopher G L; Popay, Alison J; Rolston, M Philip; Townsend, Richard J; Lloyd-West, Catherine M; Card, Stuart D

2016-02-01

Birds and other forms of wildlife are a major issue for airport authorities worldwide, as they can create hazards to operating aircraft. Wildlife "strikes," the majority caused by birds, can cause damage to operating aircraft and in severe cases lead to a loss of human life. Many airfields contain large areas of ground cover herbage alongside their runways that consist of mixtures of grasses, legumes, and weeds that can harbor many invertebrates. Many airfields use insecticides to control insect populations; however, mounting pressure from regional councils and water boards aim to reduce this practice due to ground water runoff and contamination concerns. Avanex Unique Endophyte Technology, a product specifically developed to reduce the attractiveness of airports and surrounding areas to birds, is based on a novel association between a selected strain of Epichloë endophyte and a turf-type tall fescue cultivar. This grass-endophyte association acts through a direct mechanism whereby a negative response in birds is created through taste aversion and postingestion feedback as well as an indirect mechanism by deterring many invertebrates, a food source of many bird species. © The Authors 2015. Published by Oxford University Press on behalf of Entomological Society of America. All rights reserved. For Permissions, please email: journals.permissions@oup.com.

Molecular identification of t4 and t5 genotypes in isolates from acanthamoeba keratitis patients.

PubMed

Ledee, D R; Iovieno, A; Miller, D; Mandal, N; Diaz, M; Fell, J; Fini, M E; Alfonso, E C

2009-05-01

Acanthamoeba keratitis (AK) is a rare but sight-threatening ocular infection. Outbreaks have been associated with contaminated water and contact lens wear. The epidemiology and pathology may be associated with unique genotypes. We determined the Rns genotype for 37 clinical isolates from 23 patients presenting at the University of Miami Bascom Palmer Eye Institute with confirmed AK infections in 2006 to 2008. The genus-specific ASA.S1 amplicon allowed for rapid genotyping of the nonaxenic cultures. Of the 37 isolates, 36 were of the T4 genotype. Within this group, 13 unique diagnostic fragment 3 sequences were identified, 3 of which were not in GenBank. The 37th isolate was a T5, the first in the United States and second worldwide to be found in AK. For five patients with isolates from the cornea and contact lens/case, identical sequences within each patient cluster were observed, confirming the link between contact lens contamination and AK infection. Genotyping is an important tool in the epidemiological study of AK. In this study, it allowed for the detection of new strains and provided an etiological link between source and infection. Additionally, it can allow for accurate categorizing of physiological differences, such as strain virulence, between isolates and clades.

A unique tripartite collision tumor of the esophagus

PubMed Central

Schizas, Dimitrios; Michalinos, Adamantios; Alexandrou, Paraskevi; Moris, Demetrios; Baliou, Evangelia; Tsilimigras, Diamantis; Throupis, Theodore; Liakakos, Theodore

2017-01-01

Abstract Rationale: We report a unique case of a tripartite esophageal collision tumor consisting of three separate histologic types. Patients concerns: Therapeutic dilemmas on the proper treatment of those rare neoplasms remain unanswered considering both proper surgical therapy and adjuvant therapy. Diagnose: In this paper, we report a unique case of a patient with a tripartite esophageal collision tumor consisting of a small cell carcinoma, an adenocarcinoma of medium differentiation and a signet ring cell carcinoma. Diagnosis is difficult as clinical presentation of the patient was undistinguishable from other, commoner tumor types. Interventions: The patient's diagnostic and therapeutic course along with available data on the collisions tumor's biological behavior and treatment are briefly discussed. Outcomes: Esophagectomy is the best treatment options for these patients. Unique nature of this tumor demands aggresive oncologic treatment. Lessons: Collision tumors are rare neoplasms consisting of distinct cell populations developing in juxtaposition to one another without any areas of intermingling. Various cell types can be found. However, collision neoplasms of the esophagus combining adenomatous and neuroendocrine components are exceedingly rare, with only 5 cases described to date in the literature. Given their rarity, limited information is available on their tumorigenesis, biological behavior and clinical course. In general, these tumors are aggressive neoplasms and significantly affect patient treatment and prognosis. PMID:29245236

FDA-EPA Public Health Guidance on Fish Consumption: A Case Study on Informal Interagency Cooperation in "Shared Regulatory Space".

PubMed

Holden, Mark

2015-01-01

This article is a case study on how administrative agencies interact with each other in cases of shared regulatory jurisdiction. The theoretical literature on the topic of overlapping jurisdiction both (1) makes predictions about how agencies are expected to behave when they share jurisdiction, and (2) in recent iterations argues that overlapping jurisdiction can confer unique policymaking benefits. Through the lens of that theoretical literature, this article examines the relations between the Food and Drug Administration (FDA) and the Environmental Protection Agency (EPA) regarding the public health risks posed by mercury in fish. It concludes that the FDA-EPA case study (1) corroborates the extant theoretical accounts of how agencies behave in cases of overlapping jurisdiction, (2) supports the conclusion of the recent scholarship that overlapping jurisdiction can confer unique policy benefits, and (3) reveals a few wrinkles not given adequate treatment in the extant literature.

A case of hypotriploid chromosome in a patient with acute lymphoblastic leukaemia.

PubMed

Khan, Bilal Ahmed; Ali Baig, Mirza Faris; Siddiqui, Nadir

2017-11-01

TA 58-61, XXXX, hypotriploid chromosome was detected in the cytogenetics report of a 28 years old female patient, known case of B-cell Acute Lymphoblastic Leukaemia. On admission, the patient had normal physical examination findings and mental status, except history of fever spikes and generalized bone pains. The patient was admitted for induction of chemotherapy. Bone Marrow/Trephine biopsy report showed diffuse infiltration with blast cells with overall cellularity around 80-85% and suppressed normal haematopoiesis. Hypotriploid chromosome number in patients with B-cell Acute Lymphoblastic Leukaemia is a unique finding which, according to WHO classification of ALL, is an important prognostic factor itself and these cases have a favourable prognosis. There are only a few medical reports published about cases with similar presentations in Pakistan. Therefore, this case is very unique and further work should be done for better understanding of similar presentations and to find out more about its epidemiology.

Community-level characteristics associated with variation in rates of homelessness among families and single adults.

PubMed

Fargo, Jamison D; Munley, Ellen A; Byrne, Thomas H; Montgomery, Ann Elizabeth; Culhane, Dennis P

2013-12-01

We modeled rates of family and single-adult homelessness in the United States in metropolitan and nonmetropolitan regions and as a function of community-level demographic, behavioral, health, economic, and safety net characteristics. We entered community-level characteristics and US Department of Housing and Urban Development point-in-time counts for a single night in January 2009 into separate mixed-effects statistical analyses that modeled homelessness rates for 4 subpopulations: families and single adults in metropolitan and nonmetropolitan regions. Community-level factors accounted for 25% to 50% of the variance in homelessness rates across models. In metropolitan regions, alcohol consumption, social support, and several economic indicators were uniquely associated with family homelessness, and drug use and homicide were uniquely associated with single-adult homelessness. In nonmetropolitan regions, life expectancy, religious adherence, unemployment, and rent burden were uniquely associated with family homelessness, and health care access, crime, several economic indicators, and receipt of Supplemental Security Income were uniquely associated with single-adult homelessness. Considering homeless families and single adults separately enabled more precise modeling of associations between homelessness rates and community-level characteristics, indicating targets for interventions to reduce homelessness among these subpopulations.

Community-Level Characteristics Associated With Variation in Rates of Homelessness Among Families and Single Adults

PubMed Central

Fargo, Jamison D.; Munley, Ellen A.; Byrne, Thomas H.; Montgomery, Ann Elizabeth; Culhane, Dennis P.

2013-01-01

Objectives. We modeled rates of family and single-adult homelessness in the United States in metropolitan and nonmetropolitan regions and as a function of community-level demographic, behavioral, health, economic, and safety net characteristics. Methods. We entered community-level characteristics and US Department of Housing and Urban Development point-in-time counts for a single night in January 2009 into separate mixed-effects statistical analyses that modeled homelessness rates for 4 subpopulations: families and single adults in metropolitan and nonmetropolitan regions. Results. Community-level factors accounted for 25% to 50% of the variance in homelessness rates across models. In metropolitan regions, alcohol consumption, social support, and several economic indicators were uniquely associated with family homelessness, and drug use and homicide were uniquely associated with single-adult homelessness. In nonmetropolitan regions, life expectancy, religious adherence, unemployment, and rent burden were uniquely associated with family homelessness, and health care access, crime, several economic indicators, and receipt of Supplemental Security Income were uniquely associated with single-adult homelessness. Conclusions. Considering homeless families and single adults separately enabled more precise modeling of associations between homelessness rates and community-level characteristics, indicating targets for interventions to reduce homelessness among these subpopulations. PMID:24148057

Unique CD44 intronic SNP is associated with tumor grade in breast cancer: a case control study and in silico analysis.

PubMed

Esmaeili, Rezvan; Abdoli, Nasrin; Yadegari, Fatemeh; Neishaboury, Mohamadreza; Farahmand, Leila; Kaviani, Ahmad; Majidzadeh-A, Keivan

2018-01-01

CD44 encoded by a single gene is a cell surface transmembrane glycoprotein. Exon 2 is one of the important exons to bind CD44 protein to hyaluronan. Experimental evidences show that hyaluronan-CD44 interaction intensifies the proliferation, migration, and invasion of breast cancer cells. Therefore, the current study aimed at investigating the association between specific polymorphisms in exon 2 and its flanking region of CD44 with predisposition to breast cancer. In the current study, 175 Iranian female patients with breast cancer and 175 age-matched healthy controls were recruited in biobank, Breast Cancer Research Center, Tehran, Iran. Single nucleotide polymorphisms of CD44 exon 2 and its flanking were analyzed via polymerase chain reaction and gene sequencing techniques. Association between the observed variation with breast cancer risk and clinico-pathological characteristics were studied. Subsequently, bioinformatics analysis was conducted to predict potential exonic splicing enhancer (ESE) motifs changed as the result of a mutation. A unique polymorphism of the gene encoding CD44 was identified at position 14 nucleotide upstream of exon 2 (A37692→G) by the sequencing method. The A > G polymorphism exhibited a significant association with higher-grades of breast cancer, although no significant relation was found between this polymorphism and breast cancer risk. Finally, computational analysis revealed that the intronic mutation generated a new consensus-binding motif for the splicing factor, SC35, within intron 1. The current study results indicated that A > G polymorphism was associated with breast cancer development; in addition, in silico analysis with ESE finder prediction software showed that the change created a new SC35 binding site.

Trait hostility and hostile interpretation biases in daily smokers: associations with reasons for smoking, motivation to quit, and early smoking lapse.

PubMed

Cougle, Jesse R; Hawkins, Kirsten A; Macatee, Richard J; Zvolensky, Michael J; Sarawgi, Shivali

2014-09-01

Hostility has emerged as an important predictor of smoking cessation difficulties, though the mechanisms underlying the hostility and smoking relationship are poorly understood. Further, research has yet to explore relations between hostile interpretation biases and different aspects of smoking behavior. In the present study, current daily smokers (N = 106) were administered measures of smoking characteristics, smoking motivation, reasons for quitting, hostility, and hostile interpretation bias. Neither trait hostility nor hostile interpretation bias were uniquely associated with motivation to quit, reasons for quitting, nicotine dependence, or problematic symptoms following past cessation attempts. However, hostility and hostile interpretation biases were uniquely associated with different reasons for smoking. Additionally, greater hostile interpretation bias (but not hostility) was uniquely associated with early relapse following past cessation attempts. The current findings add uniquely to the growing, but still relatively small, literature on hostility and smoking and implicate hostile interpretation bias as a potential treatment target in smoking cessation interventions.

A large community outbreak of blastomycosis in Wisconsin with geographic and ethnic clustering.

PubMed

Roy, Monika; Benedict, Kaitlin; Deak, Eszter; Kirby, Miles A; McNiel, Jena T; Sickler, Carrie J; Eckardt, Eileen; Marx, Ruth K; Heffernan, Richard T; Meece, Jennifer K; Klein, Bruce S; Archer, John R; Theurer, Joan; Davis, Jeffrey P; Park, Benjamin J

2013-09-01

Blastomycosis is a potentially life-threatening infection caused by the soil-based dimorphic fungus Blastomyces dermatitidis, which is endemic throughout much of the Midwestern United States. We investigated an increase in reported cases of blastomycosis that occurred during 2009-2010 in Marathon County, Wisconsin. Case detection was conducted using the Wisconsin Electronic Disease Surveillance System (WEDSS). WEDSS data were used to compare demographic, clinical, and exposure characteristics between outbreak-related and historical case patients, and to calculate blastomycosis incidence rates. Because initial mapping of outbreak case patients' homes and recreational sites demonstrated unusual neighborhood and household case clustering, we conducted a 1:3 matched case-control study to identify factors associated with being in a geographic cluster. Among the 55 patients with outbreak-related cases, 33 (70%) were hospitalized, 2 (5%) died, 30 (55%) had cluster-related cases, and 20 (45%) were Hmong. The overall incidence increased significantly since 2005 (average 11% increase per year, P < .001), and incidence during 2005-2010 was significantly higher among Asians than non-Asians (2010 incidence: 168 vs 13 per 100 000 population). Thirty of the outbreak cases grouped into 5 residential clusters. Outdoor activities were not risk factors for blastomycosis among cluster case patients or when comparing outbreak cases to historical cases. This outbreak of blastomycosis, the largest ever reported, was characterized by unique household and neighborhood clustering likely related to multifocal environmental sources. The reasons for the large number of Hmong affected are unclear, but may involve genetic predisposition.

Admixture mapping of pelvic organ prolapse in African Americans from the Women’s Health Initiative Hormone Therapy trial

PubMed Central

Hartmann, Katherine E.; Aldrich, Melinda C.; Ward, Renee M.; Wu, Jennifer M.; Park, Amy J.; Graff, Mariaelisa; Qi, Lihong; Nassir, Rami; Wallace, Robert B.; O'Sullivan, Mary J.; North, Kari E.; Velez Edwards, Digna R.; Edwards, Todd L.

2017-01-01

Evidence suggests European American (EA) women have two- to five-fold increased odds of having pelvic organ prolapse (POP) when compared with African American (AA) women. However, the role of genetic ancestry in relation to POP risk is not clear. Here we evaluate the association between genetic ancestry and POP in AA women from the Women’s Health Initiative Hormone Therapy trial. Women with grade 1 or higher classification, and grade 2 or higher classification for uterine prolapse, cystocele or rectocele at baseline or during follow-up were considered to have any POP (N = 805) and moderate/severe POP (N = 156), respectively. Women with at least two pelvic exams with no indication for POP served as controls (N = 344). We performed case-only, and case-control admixture-mapping analyses using multiple logistic regression while adjusting for age, BMI, parity and global ancestry. We evaluated the association between global ancestry and POP using multiple logistic regression. European ancestry at the individual level was not associated with POP risk. Case-only and case-control local ancestry analyses identified two ancestry-specific loci that may be associated with POP. One locus (Chromosome 15q26.2) achieved empirically-estimated statistical significance and was associated with decreased POP odds (considering grade ≥2 POP) with each unit increase in European ancestry (OR: 0.35; 95% CI: 0.30, 0.57; p-value = 1.48x10-5). This region includes RGMA, a potent regulator of the BMP family of genes. The second locus (Chromosome 1q42.1-q42.3) was associated with increased POP odds with each unit increase in European ancestry (Odds ratio [OR]: 1.69; 95% confidence interval [CI]: 1.28, 2.22; p-value = 1.93x10-4). Although this region did not reach statistical significance after considering multiple comparisons, it includes potentially relevant genes including TBCE, and ACTA1. Unique non-overlapping European and African ancestry-specific susceptibility loci may be associated with increased POP risk. PMID:28582460

Chronic retinal necrosis: cytomegalovirus necrotizing retinitis associated with panretinal vasculopathy in non-HIV patients.

PubMed

Schneider, Eric W; Elner, Susan G; van Kuijk, Frederik J; Goldberg, Naomi; Lieberman, Ronni M; Eliott, Dean; Johnson, Mark W

2013-10-01

To characterize a unique cytomegalovirus (CMV)-associated retinopathy in patients with limited immune dysfunction. Retrospective observational case series. CMV was confirmed as the pathogenic agent via polymerase chain reaction analysis of aqueous or vitreous humor samples or via immunohistochemical analysis of retinal biopsy specimens. Five non-HIV patients with granular necrotizing retinitis, vitritis, and severe occlusive vasculopathy were identified. Patient histories all suggested a basis for limited immune dysfunction including advanced age (n = 4), diabetes mellitus (n = 4), and noncytotoxic immunotherapy (n = 3). Diagnosis of CMV retinitis was delayed in all cases and patients received either no antiviral therapy (n = 2) or incorrect antiviral therapy (n = 3) for presumed herpes simplex/varicella zoster-related acute retinal necrosis. Retinitis subsequently regressed in all cases with introduction of systemic ganciclovir/valganciclovir (n = 5) and/or intravitreal foscarnet (n = 2). Four of five patients developed neovascularization because of extensive retinal ischemia. The clinical expression of CMV-associated retinopathy is strongly related to immune status. In patients with limited immune dysfunction, a mixed clinical picture of intraocular inflammation with panretinal occlusive vasculopathy, more characteristic of acute retinal necrosis, and peripheral slowly progressive granular retinitis, more characteristic of classic CMV retinitis, is observed. Recognition of this atypical clinical presentation, which the authors term chronic retinal necrosis, should prompt molecular testing for CMV to determine the appropriate antiviral therapy. Consideration should also be given to prophylactic panretinal photocoagulation in such eyes, given the high risk of neovascular complications.

A genome-wide association study of susceptibility to acute lymphoblastic leukemia in adolescents and young adults.

PubMed

Perez-Andreu, Virginia; Roberts, Kathryn G; Xu, Heng; Smith, Colton; Zhang, Hui; Yang, Wenjian; Harvey, Richard C; Payne-Turner, Debbie; Devidas, Meenakshi; Cheng, I-Ming; Carroll, William L; Heerema, Nyla A; Carroll, Andrew J; Raetz, Elizabeth A; Gastier-Foster, Julie M; Marcucci, Guido; Bloomfield, Clara D; Mrózek, Krzysztof; Kohlschmidt, Jessica; Stock, Wendy; Kornblau, Steven M; Konopleva, Marina; Paietta, Elisabeth; Rowe, Jacob M; Luger, Selina M; Tallman, Martin S; Dean, Michael; Burchard, Esteban G; Torgerson, Dara G; Yue, Feng; Wang, Yanli; Pui, Ching-Hon; Jeha, Sima; Relling, Mary V; Evans, William E; Gerhard, Daniela S; Loh, Mignon L; Willman, Cheryl L; Hunger, Stephen P; Mullighan, Charles G; Yang, Jun J

2015-01-22

Acute lymphoblastic leukemia (ALL) in adolescents and young adults (AYA) is characterized by distinct presenting features and inferior prognosis compared with pediatric ALL. We performed a genome-wide association study (GWAS) to comprehensively identify inherited genetic variants associated with susceptibility to AYA ALL. In the discovery GWAS, we compared genotype frequency at 635 297 single nucleotide polymorphisms (SNPs) in 308 AYA ALL cases and 6,661 non-ALL controls by using a logistic regression model with genetic ancestry as a covariate. SNPs that reached P ≤ 5 × 10(-8) in GWAS were tested in an independent cohort of 162 AYA ALL cases and 5,755 non-ALL controls. We identified a single genome-wide significant susceptibility locus in GATA3: rs3824662, odds ratio (OR), 1.77 (P = 2.8 × 10(-10)) and rs3781093, OR, 1.73 (P = 3.2 × 10(-9)). These findings were validated in the replication cohort. The risk allele at rs3824662 was most frequent in Philadelphia chromosome (Ph)-like ALL but also conferred susceptibility to non-Ph-like ALL in AYAs. In 1,827 non-selected ALL cases, the risk allele frequency at this SNP was positively correlated with age at diagnosis (P = 6.29 × 10(-11)). Our results from this first GWAS of AYA ALL susceptibility point to unique biology underlying leukemogenesis and potentially distinct disease etiology by age group.

Congenital heart diseases in the boxer dog: A retrospective study of 105 cases (1998-2005).

PubMed

Chetboul, V; Trollé, J M; Nicolle, A; Carlos Sampedrano, C; Gouni, V; Laforge, H; Benalloul, T; Tissier, R; Pouchelon, J-L

2006-09-01

Subaortic stenosis (SAS) is one of the most common congenital heart diseases (CHD) in dogs with Boxers being predominantly affected. However, the increasing availability of modern diagnostic imaging systems now allows a better assessment of cardiac morphology and function, thereby facilitating early detection of CHD in awake animals. In this context, the case records of Boxer dogs diagnosed with CHD using echocardiography combined with Doppler mode, were retrospectively reviewed (1998-2005). One hundred and five Boxers exhibiting either a single CHD (53/105, 50.5%) or association of several CHD (52/105, 49.5%) were included. The most common CHD was atrial septal defect (ASD) observed in 56.2% of these animals (59/105), followed by mitral dysplasia (58/105, 55.2%), and SAS (49/105, 46.7%). SAS was associated with one or two CHD in 29.5% of cases (31/105). Most of the dogs with a low intensity left heart base systolic murmur had an isolated ASD whereas most of the dogs with a similar but high intensity murmur had SAS, either isolated or associated with a concurrent CHD. The incidence of ASD and mitral dysplasia in Boxer dogs is higher than previously assumed, and ASD is a common cause of left heart base systolic murmur in this breed of dog. This confirms that the detection of such a murmur should not be used as the unique criterion for diagnostic confirmation of SAS.

A Database Design and Development Case: NanoTEK Networks

ERIC Educational Resources Information Center

Ballenger, Robert M.

2010-01-01

This case provides a real-world project-oriented case study for students enrolled in a management information systems, database management, or systems analysis and design course in which database design and development are taught. The case consists of a business scenario to provide background information and details of the unique operating…

Callous-unemotional, impulsive-irresponsible, and grandiose-manipulative traits: Distinct associations with heart rate, skin conductance, and startle responses to violent and erotic scenes.

PubMed

Fanti, Kostas A; Kyranides, Melina N; Georgiou, Giorgos; Petridou, Maria; Colins, Olivier F; Tuvblad, Catherine; Andershed, Henrik

2017-05-01

The present study aimed to examine whether callous-unemotional, grandiose-manipulative, and impulsive-irresponsible dimensions of psychopathy are differentially related to various affective and physiological measures, assessed at baseline and in response to violent and erotic movie scenes. Data were collected from young adults (N = 101) at differential risk for psychopathic traits. Findings from regression analyses revealed a unique predictive contribution of grandiose-manipulative traits in particular to higher ratings of positive valence for violent scenes. Callous-unemotional traits were uniquely associated with lower levels of sympathy toward victims and lower ratings of fear and sadness during violent scenes. All three psychopathy dimensions and the total psychopathy scale showed negative zero-order correlations with heart rate at baseline, but regression analyses revealed that only grandiose manipulation was uniquely predictive of lower baseline heart rate. Grandiose manipulation was also significantly associated with lower baseline skin conductance. Regarding autonomic activity, findings resulted in a unique negative association between grandiose manipulation and heart rate activity in response to violent scenes. In contrast, the impulsive-irresponsible dimension was positively related with heart rate activity to violent scenes. Finally, findings revealed that only callous-unemotional traits were negatively associated with startle potentiation in response to violent scenes. No associations during erotic scenes were identified. These findings point to unique associations between the three assessed dimensions of psychopathy with physiological measures, indicating that grandiose manipulation is associated with hypoarousal, impulsive irresponsibility with hyperarousal, and callous-unemotional traits with low emotional and fear responses to violent scenes. © 2017 Society for Psychophysiological Research.

Social Constructivism and Case-Writing for an Integrated Curriculum

ERIC Educational Resources Information Center

Doubleday, Alison F.; Brown, Blase; Patston, Philip A.; Jurgens-Toepke, Pamela; Strotman, Meaghan Driscoll; Koerber, Anne; Haley, Colin; Briggs, Charlotte; Knight, G. William

2015-01-01

Case-writing within an integrated, systems-based health professions education curriculum presents many unique challenges. Specifically, case-writing in this context must consider integration of multidisciplinary learning objectives and synthesis of biomedical and clinical sciences. Establishing an effective process for content integration and…

A preliminary study of EAT and BITE scores for one school year in Bermuda: increased early anorexic measures related to socio-economic factors.

PubMed

Marlowe, Karl

2005-03-01

Bermuda is a unique heterogeneous ethnic population in which it is possible to study the interaction of ethnicity, culture, gender and economic factors that influence abnormal eating attitudes. A cross-sectional survey of 836 adolescents, one total school year in Bermuda. The BITE and EAT self-report questionnaires were administered in a classroom setting. The analysis was for caseness and for total scores. Caseness represents possible developing anorexic or bulimic eating disorder pathology for this non-adult population. 7.3% fulfilled EAT caseness, 0.24% fulfilled BITE caseness. There was no gender or ethnic difference for caseness. Multivariate analysis for EAT caseness found Odds Ratios of 2.89 (95% CI 1.37, 6.11) for Manual maternal job status. Despite the limitation of a questionnaire analysis, lower socioeconomic status increases the risk of possible eating disorder pathology in this adolescent population. Developing anorexic eating attitudes were more prevalent compared to bulimic attitudes for schoolchildren in this unique cultural setting.

Ultrastructure of spines and associated terminals on brainstem neurons controlling auditory input

PubMed Central

Brown, M. Christian; Lee, Daniel J.; Benson, Thane E.

2013-01-01

Spines are unique cellular appendages that isolate synaptic input to neurons and play a role in synaptic plasticity. Using the electron microscope, we studied spines and their associated synaptic terminals on three groups of brainstem neurons: tensor tympani motoneurons, stapedius motoneurons, and medial olivocochlear neurons, all of which exert reflexive control of processes in the auditory periphery. These spines are generally simple in shape; they are infrequent and found on the somata as well as the dendrites. Spines do not differ in volume among the three groups of neurons. In all cases, the spines are associated with a synaptic terminal that engulfs the spine rather than abuts its head. The positions of the synapses are variable, and some are found at a distance from the spine, suggesting that the isolation of synaptic input is of diminished importance for these spines. Each group of neurons receives three common types of synaptic terminals. The type of terminal associated with spines of the motoneurons contains pleomorphic vesicles, whereas the type associated with spines of olivocochlear neurons contains large round vesicles. Thus, spine-associated terminals in the motoneurons appear to be associated with inhibitory processes but in olivocochlear neurons they are associated with excitatory processes. PMID:23602963

Maternal Psychological Control and Its Association with Mother and Child Perceptions of Adolescent Adjustment: More Evidence on the Strength of Shared Perspectives.

PubMed

Valdes, Olivia M; Laursen, Brett; Guimond, Fanny A; Hartl, Amy C; Denner, Jill

2016-10-01

Mothers and adolescents hold distinct albeit correlated views of their relationship and of one another. The present study focuses on disentangling these independent views. Concurrent associations between maternal psychological control and children's adjustment are examined at two time points in order to identify the degree to which associations reflect (a) views that are shared by mothers and adolescents, and (b) views that are unique to mothers and adolescents. A total of 123 (56 % female) U.S. Latino/a adolescents (M = 10.4 years old at the outset) and their mothers reported on maternal psychological control, children's conduct problems, and children's anxiety, twice within a 5-month period. Data were collected at the close of primary school when the adolescents were in grade 5 and again at the beginning of middle school, when they were in grade 6. Results from conventional correlations indicated that mother- and adolescent-reports yielded similar associations between maternal psychological control and adolescent adjustment. Common fate model analyses partitioned results into variance shared across mother and adolescent reports and variance unique to mother and adolescent reports. Results differed for anxiety and conduct problems. Shared views indicated that greater maternal psychological control was associated with heightened child conduct problems; there were no associations unique to either reporter. In contrast, unique reporter views indicated that greater maternal psychological control was associated with child anxiety; there were no associations involving shared views. Although mother- and adolescent-reports agree that maternal psychological control is correlated with children's adjustment, there is considerable divergence in results when associations are partitioned according to shared and unique reporter views. Associations between maternal psychological control and children's anxiety are more apt to be inflated by same-reporter variance bias than are associations between maternal psychological control and children's conduct problems.

Novel Association of WNK4 Gene, Ala589Ser Polymorphism in Essential Hypertension, and Type 2 Diabetes Mellitus in Malaysia.

PubMed

Ghodsian, Nooshin; Ismail, Patimah; Ahmadloo, Salma; Heidari, Farzad; Haghvirdizadeh, Polin; Ataollahi Eshkoor, Sima; Etemad, Ali

2016-01-01

With-no-lysine (K) Kinase-4 (WNK4) consisted of unique serine and threonine protein kinases, genetically associated with an autosomal dominant form of hypertension. Argumentative consequences have lately arisen on the association of specific single nucleotide polymorphisms of WNK4 gene and essential hypertension (EHT). The aim of this study was to determine the association of Ala589Ser polymorphism of WNK4 gene with essential hypertensive patients in Malaysia. WNK4 gene polymorphism was specified utilizing mutagenically separated polymerase chain reaction (PCR) and restriction fragment length polymorphism (RFLP) method in 320 subjects including 163 cases and 157 controls. Close relation between Ala589Ser polymorphism and elevated systolic and diastolic blood pressure (SBP and DBP) was recognized. Sociodemographic factors including body mass index (BMI), age, the level of fasting blood sugar (FBS), low density lipoprotein (LDL), and triglyceride (TG) in the cases and healthy subjects exhibited strong differences (p < 0.05). The distribution of allele frequency and genotype of WNK4 gene Ala589Ser polymorphism showed significant differences (p < 0.05) between EHT subjects with or without type 2 diabetes mellitus (T2DM) and normotensive subjects, statistically. The WNK4 gene variation influences significantly blood pressure increase. Ala589Ser probably has effects on the enzymic activity leading to enhanced predisposition to the disorder.

Metal dust deposition in a shotgun wound associated with barrel modification.

PubMed

Williams, Andrew S; Bowes, Matthew J

2016-03-01

Contact-range gunshot wounds commonly demonstrate deposition of black soot in and around the wound. Deposition of other visible pigments originating from the firearm has not been specifically described. In the current case, an adult male was found dead adjacent to a shotgun fixed in a vice grip with a modified, shortened barrel. A handheld, powered, metal grinding wheel was nearby. Autopsy revealed an intraoral gunshot wound, including soot deposition in and around the mouth and within the wound track. In addition, there was a peculiar, gray, lustrous film on the lips, gingiva, and anterior teeth. The material was concentrated around the most severe areas of injury in the anterior mouth and easily rubbed off with a cotton swab. It was not visualized in the rest of the mouth and not present in the larynx, or the esophagus. Overall, our opinion is that this unique, gray, lustrous film represents deposition of fine metallic dust that accumulated in the barrel of the shotgun during its modification with the grinding wheel. This type of unique pigment deposition should be recognized by forensic pathologists as possibly being related to the discharge of a firearm with a recently modified barrel or other cause for fine metallic dust accumulation within the barrel. Depending on the circumstances of the case, collection of samples of such metal dust deposits could be indicated for subsequent analysis.

Indolent small intestinal CD4+ T-cell lymphoma is a distinct entity with unique biologic and clinical features.

PubMed

Margolskee, Elizabeth; Jobanputra, Vaidehi; Lewis, Suzanne K; Alobeid, Bachir; Green, Peter H R; Bhagat, Govind

2013-01-01

Enteropathy-associated T-cell lymphomas (EATL) are rare and generally aggressive types of peripheral T-cell lymphomas. Rare cases of primary, small intestinal CD4+ T-cell lymphomas with indolent behavior have been described, but are not well characterized. We describe morphologic, phenotypic, genomic and clinical features of 3 cases of indolent primary small intestinal CD4+ T-cell lymphomas. All patients presented with diarrhea and weight loss and were diagnosed with celiac disease refractory to a gluten free diet at referring institutions. Small intestinal biopsies showed crypt hyperplasia, villous atrophy and a dense lamina propria infiltrate of small-sized CD4+ T-cells often with CD7 downregulation or loss. Gastric and colonic involvement was also detected (n = 2 each). Persistent, clonal TCRβ gene rearrangement products were detected at multiple sites. SNP array analysis showed relative genomic stability, early in disease course, and non-recurrent genetic abnormalities, but complex changes were seen at disease transformation (n = 1). Two patients are alive with persistent disease (4.6 and 2.5 years post-diagnosis), despite immunomodulatory therapy; one died due to bowel perforation related to large cell transformation 11 years post-diagnosis. Unique pathobiologic features warrant designation of indolent small intestinal CD4+ T-cell lymphoma as a distinct entity, greater awareness of which would avoid misdiagnosis as EATL or an inflammatory disorder, especially celiac disease.

Cerebral Venous Sinus Thrombosis Due to Low-molecular-weight Heparin-induced Thrombocytopenia.

PubMed

Gleichgerrcht, Ezequiel; Lim, Ming Y; Turan, Tanya N

2017-11-01

Heparin-induced thrombocytopenia (HIT) is an immune-mediated complication of heparin exposure. A limited number of studies have reported cerebral venous sinus thrombosis (CVST) as the presenting thrombotic event induced by HIT, only one of which occurred with exposure to low-molecular-weight heparin (LMWH), with death as outcome. Here, we present a unique case of LMWH-induced HIT leading to CVST but resulting in good clinical outcome. A 52-year-old woman received subcutaneous LMWH for deep vein thrombosis prophylaxis while in rehabilitation following kyphoplasty for spinal fracture related to recent trauma. On postoperative day 15, she developed acute onset altered mental status with significant agitation and nonsensical speech and was found to have brain imaging findings suggestive of CVST. Work-up revealed a drop in platelets associated with HIT, which did not improve off heparin products and with steroids, requiring intravenous immunoglobulin therapy, likely due to an overlapping immune thrombocytopenic purpura. Patient was managed on an argatroban drip until platelet count normalized and was able to transition to warfarin. Her clinical outcome was very favorable with near-normal neurological exam except for subtle cognitive changes. This unique case of LMWH-induced HIT leading to CVST but resulting in good clinical outcome highlights the importance of linking CVST with HIT and of establishing the need for early alternative antithrombotic therapeutic strategies.

Adult idiopathic hypertrophic pyloric stenosis - a common presentation with an uncommon diagnosis

PubMed Central

Mubarik, Ateeq; Muddassir, Salman; Haq, Furqan

2018-01-01

ABSTRACT Background and Objectives: Adult Idiopathic hypertrophic pyloric stenosis (AIHPS) is a rare but well-defined entity in adults with only 200-300 cases reported so far in the literature.We describe a case of AIHPS and the relevant literature review. Methods and Results: The patient presented with acute onset upper abdominal pain associated with nausea, vomiting, foul-smelling black tarry stools, and anorexia. On the Esophagogastroduodenoscopy (EGD), pylorus demonstrated a unique “cervix sign.” The patient had multiple endoscopic dilations with minimal relief. She then underwent a distal partial gastrectomy with a Billroth 1 gastroduodenostomy with considerable  improvement in her symptoms on follow up. Conclusion: Adult Idiopathic hypertrophic pyloric stenosis (AIHPS) is a rare disease which is also underreported due to a difficulty in diagnosis. The most common symptoms of AIHPS are postprandial nausea, vomiting, early satiety, and epigastric pain as seen in our patient. Endoscopy usually shows ?Cervix sign? a unique sign showing a fixed, markedly narrowed pylorus with a smooth border. Multiple treatments have been proposed for AIHPS, including endoscopic dilation, pyloromyotomy with or without pyloroplasty, gastrectomy with a Billroth 1 gastroduodenostomy. Currently, there is no evidence of one surgical technique being superior to another. Further research needs to be done on AIHPS before one technique can be standardized as the standard of care. PMID:29686790

Risk factors for CKD in persons with kidney stones: a case-control study in Olmsted County, Minnesota.

PubMed

Saucier, Nathan A; Sinha, Mukesh K; Liang, Kelly V; Krambeck, Amy E; Weaver, Amy L; Bergstralh, Eric J; Li, Xujian; Rule, Andrew D; Lieske, John C

2010-01-01

Kidney stones are associated with increased risk of chronic kidney disease (CKD); however, risk factors in the general community are poorly defined. A nested case-control study was performed in residents of Olmsted County, MN, who presented with a kidney stone at the Mayo Clinic in 1980-1994 to contrast patients with kidney stones who developed CKD with a group that did not. Participants were selected from the Rochester Epidemiology Project, an electronic linkage system among health care providers in Olmsted County, MN. Cases were identified by diagnostic code for CKD and confirmed to have an estimated glomerular filtration rate < 60 mL/min/1.73 m(2). Controls were matched 2:1 to cases for age, sex, date of first kidney stone, and length of medical record. Charts were abstracted to characterize stone disease, hypertension, diabetes, obesity, tobacco use, ileal conduit, symptomatic stones, type and number of stones, urinary tract infections, number and type of surgical procedures, and medical therapy. Kidney stone patients with CKD were compared with matched stone patients without CKD. There were 53 cases and 106 controls with a mean age of 57 years at first stone event and 59% men. In kidney stone patients, cases with CKD were significantly more likely (P < 0.05) than controls to have had a history of diabetes (41.5% vs 17.0%), hypertension (71.7% vs 49.1%), frequent urinary tract infections (22.6% vs 6.6%), struvite stones (7.5% vs 0%), and allopurinol use (32.1% vs 4.7%) based on univariate analysis. Potential limitations include limited statistical power to detect associations, incomplete data from 24-hour urine studies, and that stone composition was not always available. As in the general population, hypertension and diabetes are associated with increased risk of CKD in patients with kidney stones. However, other unique predictors were identified in patients with kidney stones that increased the possibility of CKD. Further studies are warranted to elucidate the nature of these associations. Copyright 2009 National Kidney Foundation, Inc. Published by Elsevier Inc. All rights reserved.

Unconditional or Conditional Logistic Regression Model for Age-Matched Case-Control Data?

PubMed

Kuo, Chia-Ling; Duan, Yinghui; Grady, James

2018-01-01

Matching on demographic variables is commonly used in case-control studies to adjust for confounding at the design stage. There is a presumption that matched data need to be analyzed by matched methods. Conditional logistic regression has become a standard for matched case-control data to tackle the sparse data problem. The sparse data problem, however, may not be a concern for loose-matching data when the matching between cases and controls is not unique, and one case can be matched to other controls without substantially changing the association. Data matched on a few demographic variables are clearly loose-matching data, and we hypothesize that unconditional logistic regression is a proper method to perform. To address the hypothesis, we compare unconditional and conditional logistic regression models by precision in estimates and hypothesis testing using simulated matched case-control data. Our results support our hypothesis; however, the unconditional model is not as robust as the conditional model to the matching distortion that the matching process not only makes cases and controls similar for matching variables but also for the exposure status. When the study design involves other complex features or the computational burden is high, matching in loose-matching data can be ignored for negligible loss in testing and estimation if the distributions of matching variables are not extremely different between cases and controls.

Unique Associations between Peer Relations and Social Anxiety in Early Adolescence

ERIC Educational Resources Information Center

Flanagan, Kelly S.; Erath, Stephen A.; Bierman, Karen L.

2008-01-01

This study examined the unique associations between feelings of social anxiety and multiple dimensions of peer relations (positive peer nominations, peer- and self-reported peer victimization, and self-reported friendship quality) among 383 sixth- and seventh-grade students. Hierarchical regression analysis provided evidence for the unique…

Optimal use of atherectomy in critical limb ischemia.

PubMed

Rundback, John H; Herman, Kevin Chaim

2014-09-01

Critical limb ischemia (CLI) is the most severe and debilitating form of peripheral arterial disease and is associated with high rates of limb loss and cardiovascular mortality. The unique physical environment of tibial occlusive disease underlying most CLI cases limits treatment options and long-term durability, with resulting frequent rates of persistent obstruction, restenosis, and reintervention. Atherectomy represents a potential strategy to improve acute and late results when treating patients with CLI. Available atherectomy devices each have specific performance characteristics, evidentiary rationale, and limitations that mandate a clear understanding of the optimal albeit evolving use of this category of interventional tools. Copyright © 2014 Elsevier Inc. All rights reserved.

Down Syndrome with Complete Atrioventricular Septal Defect, Hypertrophic Cardiomyopathy, and Pulmonary Vein Stenosis.

PubMed

Mahadevaiah, Guruprasad; Gupta, Manoj; Ashwath, Ravi

2015-10-01

The prevalence of congenital heart disease in infants with Down syndrome is 40%, compared with 0.3% in children who have normal chromosomes. Atrioventricular and ventricular septal defects are often associated with chromosomal aberrations, such as in trisomy 21, whereas hypertrophic cardiomyopathy is chiefly thought to be secondary to specific gene mutations. We found only one reported case of congenital hypertrophic cardiomyopathy and atrioventricular septal defect in an infant with Down syndrome. Here, we report atrioventricular septal defect, hypertrophic cardiomyopathy, and pulmonary vein stenosis in a neonate with Down syndrome-an apparently unique combination. In addition, we discuss the relevant medical literature.

Human Trafficking in Areas of Conflict: Health Care Professionals' Duty to Act.

PubMed

Bloem, Christina; Morris, Rikki E; Chisolm-Straker, Makini

2017-01-01

Given the significant global burden of human trafficking, the ability of clinicians to identify and provide treatment for trafficked persons is critical. Particularly in conflict settings, health care facilities often serve as the first and sometimes only point of contact for trafficked persons. As such, medical practitioners have a unique opportunity and an ethical imperative to intervene, even in nonclinical roles. With proper training, medical practitioners can assist trafficked persons by documenting human trafficking cases, thereby placing pressure on key stakeholders to enforce legal protections, and by providing adequate services to those trafficked. © 2017 American Medical Association. All Rights Reserved.

Rare Skeletal Complications in the Setting of Primary Hyperparathyroidism

PubMed Central

Sabanis, Nikos; Gavriilaki, Eleni; Paschou, Eleni; Kalaitzoglou, Asterios; Papanikolaou, Dimitrios; Ioannidou, Pinelopi; Vasileiou, Sotirios

2015-01-01

Parathyroid carcinoma represents an extremely rare neoplasm with diverse clinical manifestations which vary from asymptomatic patients to severe complications of hypercalcemia or parathyrotoxicosis while skeletal involvement is rather common. Herein we aimed at presenting a unique case of a young patient with rare aggressive skeletal complications of parathyroid cancer that initially were misdiagnosed. Ossification of the cervical ligamentum flavum and skull tumor illustrates erosive bonny lesions of hyperparathyroidism that in association with previous medical history of recurrent nephrolithiasis and biochemical findings guide the diagnosis. We suggest that increased awareness and holistic approach are needed in order to recognize and further investigate signs and symptoms of hyperparathyroidism. PMID:26664767

Rare Skeletal Complications in the Setting of Primary Hyperparathyroidism.

PubMed

Sabanis, Nikos; Gavriilaki, Eleni; Paschou, Eleni; Kalaitzoglou, Asterios; Papanikolaou, Dimitrios; Ioannidou, Pinelopi; Vasileiou, Sotirios

2015-01-01

Parathyroid carcinoma represents an extremely rare neoplasm with diverse clinical manifestations which vary from asymptomatic patients to severe complications of hypercalcemia or parathyrotoxicosis while skeletal involvement is rather common. Herein we aimed at presenting a unique case of a young patient with rare aggressive skeletal complications of parathyroid cancer that initially were misdiagnosed. Ossification of the cervical ligamentum flavum and skull tumor illustrates erosive bonny lesions of hyperparathyroidism that in association with previous medical history of recurrent nephrolithiasis and biochemical findings guide the diagnosis. We suggest that increased awareness and holistic approach are needed in order to recognize and further investigate signs and symptoms of hyperparathyroidism.

Treatment of extensive post tonsillectomy oropharyngeal stenosis secondary to fibromatosis.

PubMed

Chang, Brian; Ha, Jennifer F; Zopf, David

2018-04-01

Aggressive fibromatosis is an uncommon, benign tumor of fibroblastic origin with high potential for local invasion. Less than a quarter of these lesions are located in the head and neck, and although extremely rare, associations have been demonstrated with physical trauma. We describe a unique case of oropharyngeal fibromatosis with traumaticetiology, managed successfully with surgical excision of the lesion with negative surgical margins. A 5-year old patient was found to have an aggressive fibromatosis causing oropharyngeal stenosis following tonsillectomy. We demonstrate that surgical resection with a clear margin allowed for alleviation of stenosis without recurrences reported since the procedure. Copyright © 2018 Elsevier B.V. All rights reserved.

Update and new approaches in the treatment of Castleman disease

PubMed Central

Chan, Kah-Lok; Lade, Stephen; Prince, H Miles; Harrison, Simon J

2016-01-01

First described 60 years ago, Castleman disease comprises a rare and heterogeneous cluster of disorders, characterized by lymphadenopathy with unique histological features and associated with cytokine-driven constitutional symptoms and biochemical disturbances. Although unicentric Castleman disease is curable with complete surgical excision, its multicentric counterpart is a considerable therapeutic challenge. The recent development of biological agents, particularly monoclonal antibodies to interleukin-6 and its receptor, allow for more targeted disease-specific intervention that promises improved response rates and more durable disease control; however, further work is required to fill knowledge gaps in terms of underlying pathophysiology and to facilitate alternative treatment options for refractory cases. PMID:27536166

Dual Candida albicans and Cryptococcus neoformans fungaemia in an AIDS presenter: a unique disease association in the highly active antiretroviral therapy (HAART) era.

PubMed

Manfredi, Roberto; Calza, Leonardo; Chiodo, Francesco

2002-12-01

A case report of a patient who discovered his HIV infection concurrently with an advanced immunodeficiency and a dual Candida albicans and Cryptococcus neoformans fungaemia is discussed with reference to the changing epidemiology and clinical features of HIV infection and AIDS in the highly active antiretroviral therapy (HAART) era. The tendency to develop multiple concomitant AIDS-defining illnesses at the time of first hospitalisation seems to be an increasing feature in patients who remain unaware of or neglect their HIV disease and who are still at risk of opportunist infections even with the availability of HAART.

Unique relations among anxiety sensitivity factors and anxiety, depression, and suicidal ideation.

PubMed

Allan, Nicholas P; Capron, Daniel W; Raines, Amanda M; Schmidt, Norman B

2014-03-01

Anxiety sensitivity (AS) is composed of three lower-order dimensions, cognitive concerns, physical concerns, and social concerns. We examined the relations between AS dimensions using a more adequate assessment of subscales (ASI-3) than has previously been used, and measures of anxiety and mood disorders as well as suicidal ideation in a sample of 256 (M age = 37.10 years, SD = 16.40) treatment-seeking individuals using structural equation modeling. AS cognitive concerns was uniquely associated with generalized anxiety disorder (GAD), obsessive-compulsive disorder (OCD), major depressive disorder (MDD), post-traumatic stress disorder (PTSD), and suicidal ideation. AS physical concerns was uniquely associated with OCD, social anxiety disorder (SAD), panic disorder (PD), and specific phobia. AS social concerns was uniquely associated with SAD, GAD, OCD, and MDD. These results highlight the importance of considering the lower-order AS dimensions when examining the relations between AS and psychopathology. Copyright © 2013 Elsevier Ltd. All rights reserved.

PAX5 mutations occur frequently in adult B-cell progenitor acute lymphoblastic leukemia and PAX5 haploinsufficiency is associated with BCR-ABL1 and TCF3-PBX1 fusion genes: a GRAALL study.

PubMed

Familiades, J; Bousquet, M; Lafage-Pochitaloff, M; Béné, M-C; Beldjord, K; De Vos, J; Dastugue, N; Coyaud, E; Struski, S; Quelen, C; Prade-Houdellier, N; Dobbelstein, S; Cayuela, J-M; Soulier, J; Grardel, N; Preudhomme, C; Cavé, H; Blanchet, O; Lhéritier, V; Delannoy, A; Chalandon, Y; Ifrah, N; Pigneux, A; Brousset, P; Macintyre, E A; Huguet, F; Dombret, H; Broccardo, C; Delabesse, E

2009-11-01

Adult and child B-cell progenitor acute lymphoblastic leukemia (BCP-ALL) differ in terms of incidence and prognosis. These disparities are mainly due to the molecular abnormalities associated with these two clinical entities. A genome-wide analysis using oligo SNP arrays recently demonstrated that PAX5 (paired-box domain 5) is the main target of somatic mutations in childhood BCP-ALL being altered in 38.9% of the cases. We report here the most extensive analysis of alterations of PAX5 coding sequence in 117 adult BCP-ALL patients in the unique clinical protocol GRAALL-2003/GRAAPH-2003. Our study demonstrates that PAX5 is mutated in 34% of adult BCP-ALL, mutations being partial or complete deletion, partial or complete amplification, point mutation or fusion gene. PAX5 alterations are heterogeneous consisting in complete loss in 17%, focal deletions in 10%, point mutations in 7% and translocations in 1% of the cases. PAX5 complete loss and PAX5 point mutations differ. PAX5 complete loss seems to be a secondary event and is significantly associated with BCR-ABL1 or TCF3-PBX1 fusion genes and a lower white blood cell count.

Airborne bacterial assemblage in a zero carbon building: A case study.

PubMed

Leung, M H Y; Tong, X; Tong, J C K; Lee, P K H

2018-01-01

Currently, there is little information pertaining to the airborne bacterial communities of green buildings. In this case study, the air bacterial community of a zero carbon building (ZCB) in Hong Kong was characterized by targeting the bacterial 16S rRNA gene. Bacteria associated with the outdoor environment dominated the indoor airborne bacterial assemblage, with a modest contribution from bacteria associated with human skin. Differences in overall community diversity, membership, and composition associated with short (day-to-day) and long-term temporal properties were detected, which may have been driven by specific environmental genera and taxa. Furthermore, time-decay relationships in community membership (based on unweighted UniFrac distances) and composition (based on weighted UniFrac distances) differed depending on the season and sampling location. A Bayesian source-tracking approach further supported the importance of adjacent outdoor air bacterial assemblage in sourcing the ZCB indoor bioaerosol. Despite the unique building attributes, the ZCB microbial assemblage detected and its temporal characteristics were not dissimilar to that of conventional built environments investigated previously. Future controlled experiments and microbial assemblage investigations of other ZCBs will undoubtedly uncover additional knowledge related to how airborne bacteria in green buildings may be influenced by their distinctive architectural attributes. © 2017 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

A unique retinal epitheliopathy is associated with amyotrophic lateral sclerosis/Parkinsonism-Dementia complex of Guam.

PubMed

Steele, John C; Wresch, Robert; Hanlon, Samuel D; Keystone, Jay; Ben-Shlomo, Yoav

2015-08-01

The aim of this work was to examine whether a linear retinal pigment epitheliopathy is associated with the amyotrophic lateral sclerosis/parkinsonism-dementia complex of Guam. A total of 918 Guamanian Chamorros, with and without amyotrophic lateral sclerosis/parkinsonism-dementia complex, were examined cross-sectionally for linear retinal pigment epitheliopathy (LRPE). Overall, 239 Guamanians, who were neurologically asymptomatic, were followed for up to 20 years to determine the risk of developing amyotrophic lateral sclerosis/parkinsonism-dementia complex. The epitheliopathy was present in 59.7% (117 of 196) patients with amyotrophic lateral sclerosis/parkinsonism-dementia complex, but in only 24.7% (178 of 722) of subjects who were neurologically asymptomatic (age- and sex-adjusted risk difference: 35.0%; 95% confidence interval [CI]: 27.5-42.6; p < 0.0001). Prospectively, 15 of 50 cases with epitheliopathy developed amyotrophic lateral sclerosis/parkinsonism-dementia complex, compared to 4 of 189 cases without epitheliopathy (age- and sex-adjusted hazard ratio: 13.1; 95% CI: 4.0-43.1; P < 0.0001). Amyotrophic lateral sclerosis/parkinsonism-dementia complex is associated with an LRPE and predicts future neurological disease. Identifying the cause of this retinopathy could provide an understanding about the pathogenesis of amyotrophic lateral sclerosis/parkinsonism-dementia complex and related diseases. © 2015 International Parkinson and Movement Disorder Society.

A macro-ecological perspective on crassulacean acid metabolism (CAM) photosynthesis evolution in Afro-Madagascan drylands: Eulophiinae orchids as a case study.

PubMed

Bone, Ruth E; Smith, J Andrew C; Arrigo, Nils; Buerki, Sven

2015-10-01

Crassulacean acid metabolism (CAM) photosynthesis is an adaptation to water and atmospheric CO2 deficits that has been linked to diversification in dry-adapted plants. We investigated whether CAM evolution can be associated with the availability of new or alternative niches, using Eulophiinae orchids as a case study. Carbon isotope ratios, geographical and climate data, fossil records and DNA sequences were used to: assess the prevalence of CAM in Eulophiinae orchids; characterize the ecological niche of extant taxa; infer divergence times; and estimate whether CAM is associated with niche shifts. CAM evolved in four terrestrial lineages during the late Miocene/Pliocene, which have uneven diversification patterns. These lineages originated in humid habitats and colonized dry/seasonally dry environments in Africa and Madagascar. Additional key features (variegation, heterophylly) evolved in the most species-rich CAM lineages. Dry habitats were also colonized by a lineage that includes putative mycoheterotrophic taxa. These findings indicate that the switch to CAM is associated with environmental change. With its suite of adaptive traits, this group of orchids represents a unique opportunity to study the adaptations to dry environments, especially in the face of projected global aridification. © 2015 The Authors. New Phytologist © 2015 New Phytologist Trust.

A Fatal Case of Multidrug Resistant Acinetobacter Necrotizing Fasciitis: The Changing Scary Face of Nosocomial Infection

PubMed Central

Niazi, Masooma

2014-01-01

Necrotizing fasciitis is an uncommon soft-tissue infection, associated with high morbidity and mortality. Early recognition and treatment are crucial for survival. Acinetobacter baumannii is rarely associated with necrotizing fasciitis. Wound infections due to A. baumannii have been described in association with severe trauma in soldiers. There are only sporadic reports of monomicrobial A. baumannii necrotizing fasciitis. We report a unique case of monomicrobial necrotizing fasciitis caused by multidrug resistant (MDR) A. baumannii, in absence of any preceding trauma, surgery, or any obvious breech in the continuity of skin or mucosa. A 48-year-old woman with history of HIV, asthma, hypertension, and tobacco and excocaine use presented with acute respiratory failure requiring mechanical ventilation. She was treated for pneumonia for 7 days and was successfully extubated. All septic work-up was negative. Two days later, she developed rapidly spreading nonblanching edema with bleb formation at the lateral aspect of right thigh. Emergent extensive debridement and fasciotomy were performed. Operative findings and histopathology were consistent with necrotizing fasciitis. Despite extensive debridement, she succumbed to septic shock in the next few hours. Blood, wound, and tissue cultures grew A. baumannii, sensitive only to amikacin and polymyxin. Histopathology was consistent with necrotizing fasciitis. PMID:25349748

A fatal case of multidrug resistant acinetobacter necrotizing fasciitis: the changing scary face of nosocomial infection.

PubMed

Sinha, Nupur; Niazi, Masooma; Lvovsky, Dmitry

2014-01-01

Necrotizing fasciitis is an uncommon soft-tissue infection, associated with high morbidity and mortality. Early recognition and treatment are crucial for survival. Acinetobacter baumannii is rarely associated with necrotizing fasciitis. Wound infections due to A. baumannii have been described in association with severe trauma in soldiers. There are only sporadic reports of monomicrobial A. baumannii necrotizing fasciitis. We report a unique case of monomicrobial necrotizing fasciitis caused by multidrug resistant (MDR) A. baumannii, in absence of any preceding trauma, surgery, or any obvious breech in the continuity of skin or mucosa. A 48-year-old woman with history of HIV, asthma, hypertension, and tobacco and excocaine use presented with acute respiratory failure requiring mechanical ventilation. She was treated for pneumonia for 7 days and was successfully extubated. All septic work-up was negative. Two days later, she developed rapidly spreading nonblanching edema with bleb formation at the lateral aspect of right thigh. Emergent extensive debridement and fasciotomy were performed. Operative findings and histopathology were consistent with necrotizing fasciitis. Despite extensive debridement, she succumbed to septic shock in the next few hours. Blood, wound, and tissue cultures grew A. baumannii, sensitive only to amikacin and polymyxin. Histopathology was consistent with necrotizing fasciitis.

Subacute Peristomal Necrotizing Fasciitis Detected During Adjuvant Chemotherapy for Adenocarcinoma Rectum: Case Report on a Unique Presentation and Description of a Simple Surgical Strategy for Treatment.

PubMed

Ahmad, Humaid; Haider, Jahanzaib; Siddiqui, Sheeraz S; Naz, Sumbul; Nihal, Faizan; Alam, Shams Nadeem

2018-01-16

Necrotizing fasciitis (NF) is a rare entity with its subacute form being even rarer. The condition has also been described to occur in the peristomal area in relation to different clinical scenarios. However, it has not been described in the setting of adjuvant chemotherapy where these medications have already been given. While the diagnosis may be delayed or missed due to the subtle symptomatology of the indolent subacute form of NF, another reason for a delayed or missed diagnosis may be the excessive use of tape and the stoma belt around the stomal appliance to prolong the life of the appliance beyond its recommended days of usage due to economic constraints. This, in turn, covers a larger area around the peristomal skin and developing skin changes associated with necrotizing fasciitis. Despite the less aggressive presentation of the subacute form, it may still represent a unique surgical challenge in this setting, as the chemotherapy-induced neutropenia bound to occur a few days after the chemotherapy may expose the patient to serious complications at that time. As such, the surgical plan at the time of presentation may become the determinant of morbidity and mortality. Here, a case is presented of a young patient who underwent abdominoperineal resection for stage III adenocarcinoma of the rectum. He was referred to us on the day of the fourth cycle of adjuvant chemotherapy by the oncology service where he had received part of his chemotherapy regimen. On presentation, he was found to be having significant skin changes in the peristomal area consistent with necrotizing fasciitis despite being clinically stable. The authors present this unique case as a study from which many lessons can be learned. They also explain the thought process behind a well-planned but simple surgical strategy that was implemented with a successful patient outcome. In addition to describing this surgical strategy, the case report is concluded by highlighting some factors that may raise suspicion of this condition and by emphasizing routine history-taking for peristomal symptomatology and a thorough examination of the peristomal site prior to administration of chemotherapy in patients with stomata, as this condition, if overlooked, may lead to a fatal outcome.

Lynch Syndrome: Genomics Update and Imaging Review.

PubMed

Cox, Veronica L; Saeed Bamashmos, Anas A; Foo, Wai Chin; Gupta, Shiva; Yedururi, Sireesha; Garg, Naveen; Kang, Hyunseon Christine

2018-01-01

Lynch syndrome is the most common hereditary cancer syndrome, the most common cause of heritable colorectal cancer, and the only known heritable cause of endometrial cancer. Other cancers associated with Lynch syndrome include cancers of the ovary, stomach, urothelial tract, and small bowel, and less frequently, cancers of the brain, biliary tract, pancreas, and prostate. The oncogenic tendency of Lynch syndrome stems from a set of genomic alterations of mismatch repair proteins. Defunct mismatch repair proteins cause unusually high instability of regions of the genome called microsatellites. Over time, the accumulation of mutations in microsatellites and elsewhere in the genome can affect the production of important cellular proteins, spurring tumorigenesis. Universal testing of colorectal tumors for microsatellite instability (MSI) is now recommended to (a) prevent cases of Lynch syndrome being missed owing to the use of clinical criteria alone, (b) reduce morbidity and mortality among the relatives of affected individuals, and (c) guide management decisions. Organ-specific cancer risks and associated screening paradigms vary according to the sex of the affected individual and the type of germline DNA alteration causing the MSI. Furthermore, Lynch syndrome-associated cancers have different pathologic, radiologic, and clinical features compared with their sporadic counterparts. Most notably, Lynch syndrome-associated tumors tend to be more indolent than non-Lynch syndrome-associated neoplasms and thus may respond differently to traditional chemotherapy regimens. The high MSI in cases of colorectal cancer reflects a difference in the biologic features of the tumor, possibly with a unique susceptibility to immunotherapy. © RSNA, 2018.

Polypoid nodular histiocytic hyperplasia associated with endometrioid adenocarcinoma of the endometrium: report of a case

PubMed Central

2014-01-01

A 45 year old woman underwent Laparoscopy-assisted total hysterectomy with staging procedure following a diagnosis of endometrial endometrioid adenocarcinoma on her endometrial biopsy. The hysterectomy specimen showed a FIGO I stage 1a, endometrioid carcinoma. A separate polypoid lesion in the endometrium, distinct from the carcinoma, was also identified. Microscopically the polypoid lesion was “nodular histiocytic hyperplasia”. The H&E, immunohistochemical staining findings and the differential diagnoses are discussed in this report. Although description of similar lesions is available in the literature, the current lesion is unique as it is identified in a hysterectomy specimen in its entirety and its association with an endometrial endometrioid carcinoma. Virtual Slides The virtual slide(s) for this article can be found here: http://www.diagnosticpathology.diagnomx.eu/vs/1060511915121922 PMID:24885845

Immunogenetics of pemphigus: an update.

PubMed

Tron, François; Gilbert, Danièle; Joly, Pascal; Mouquet, Hugo; Drouot, Laurent; Ayed, Mourad Ben; Sellami, Myriam; Masmoudi, Hatem; Makni, Sondès

2006-11-01

Pemphigus are rare but informative models of organ-specific autoimmune diseases, resulting from the interplay of environmental, genetic and stochastic factors. There are many arguments to consider that pemphigus have a genetic basis involving, as many other autoimmune diseases, several different genes with additive or synergistic effects. So far, the unique strategy used to identify the contributive loci has been direct analysis of candidate genes through conventional case-control association studies. The major histocompatibility complex in particular the class II locus was demonstrated to be associated with pemphigus with a high rate of replicability. The progresses in the understanding of pemphigus physiopathology and the development of new molecular tools offer new perspectives to unveiled the genetic basis of this group of autoimmune blistering diseases, as shown by recent studies of candidate genes expressed at different levels of the autoimmune process.

Cognitive neuropsychological analysis and neuroanatomic correlates in a case of acute anomia.

PubMed

Raymer, A M; Foundas, A L; Maher, L M; Greenwald, M L; Morris, M; Rothi, L J; Heilman, K M

1997-06-01

We describe an analysis of lexical processing performed in a patient with the acute onset of an isolated anomia. Based on a model of lexical processing, we evaluated hypotheses as to the source of the naming deficit. We observed impairments in oral and written picture naming and oral naming to definition with relatively intact semantic processing across input modalities, suggesting that output from the semantic system was impaired. In contrast to previous reports, we propose that this pattern represents an impairment that arises late in semantic processing prior to accessing mode-specific verbal and graphemic output lexicons. These deficits were associated with a lesion in the posterior portion of the middle temporal gyrus or area 37, an area of supramodal association cortex that is uniquely suited as a substrate for the multimodal deficit in naming.

Diffuse Large Cell Lymphoma Presenting as a Sacral Mass and Lupus Anticoagulant

PubMed Central

Ediriwickrema, Lilangi S.; Zaheer, Wajih

2011-01-01

A 67-year-old gentleman presented to Yale-New Haven Hospital (YNHH) for assessment of a supratherapeutic INR and sacral lesion. Hematologic workup revealed elevated ESR, PT, INR, PTT, and CRP, mixing studies that failed to correct, and a positive Russell Viper Venom Test (RVVT), which confirmed the presence of lupus anticoagulant (LA), a subtype of antiphospholipid syndrome (APA). Pathology of the patient’s sacral lesion revealed diffuse large B-cell lymphoma. This case provides insight into the association between APA and lymphoid neoplasm. The patient’s unique presentation is in marked contrast to other reports of APA and lymphoid malignancy, which are typically associated with elevated PTT, normal PT, minimal extranodal disease, and potential thrombotic complications. Further, treatment with Rituximab-CHOP chemotherapy led to excellent clinical response with tumor remission and normalization of PT and PTT. PMID:22180680

Diffuse large cell lymphoma presenting as a sacral mass and lupus anticoagulant.

PubMed

Ediriwickrema, Lilangi S; Zaheer, Wajih

2011-12-01

A 67-year-old gentleman presented to Yale-New Haven Hospital (YNHH) for assessment of a supratherapeutic INR and sacral lesion. Hematologic workup revealed elevated ESR, PT, INR, PTT, and CRP, mixing studies that failed to correct, and a positive Russell Viper Venom Test (RVVT), which confirmed the presence of lupus anticoagulant (LA), a subtype of antiphospholipid syndrome (APA). Pathology of the patient's sacral lesion revealed diffuse large B-cell lymphoma. This case provides insight into the association between APA and lymphoid neoplasm. The patient's unique presentation is in marked contrast to other reports of APA and lymphoid malignancy, which are typically associated with elevated PTT, normal PT, minimal extranodal disease, and potential thrombotic complications. Further, treatment with Rituximab-CHOP chemotherapy led to excellent clinical response with tumor remission and normalization of PT and PTT.

Studies of felonious crimes by the University Department of Forensic Medicine in Kumamoto Prefecture, Japan.

PubMed

Tsunenari, S; Kibayashi, K; Honjyo, K; Hamada, C

1993-01-01

This paper gives an understanding of Japan in the respect of forensic medicine. The fight against felonious crimes in Kumamoto is introduced by reference to the police system, crime statistics, an association of police surgeons and medico-legal autopsy in Kumamoto Prefecture. The police have 23 local police stations with 2,670 police officers and the unique Hashutsu-sho and Chyuzai-sho systems. The crime rate is not very high, but crimes committed by Yakuza groups and traffic accidents are major problems in Kumamoto. Medico-legal autopsy is performed in the university department on only criminal and suspected cases after examination of the body externally by a police surgeon. Two illustrative cases are also introduced in this report, which shows good cooperation among the police force, the university department of forensic medicine, and police surgeons in Kumamoto, Japan.

Permanent Central Diabetes Insipidus as a Complication of S. pneumoniae Meningitis in the Pediatric Population.

PubMed

Statz, Hannah; Hsu, Benson S

2016-05-01

Diabetes insipidus is a rare but recognized complication of meningitis. The occurrence of diabetes insidipus has been previously attributed to Streptococcus pneumoniae (S. pneumoniae) in a handful of patients and only once within the pediatric subpopulation. We present the clinical course of a previously healthy 2-year, 8-month-old male child ultimately diagnosed with central diabetes insipidus (CDI) secondary to S. pneumoniae meningitis. Permanent CDI following S. pneumoniae meningitis is unique to our case and has not been previously described. Following the case presentation, we describe the etiology, pathophysiology, diagnosis, and treatment of CDI. The mechanism proposed for this clinical outcome is cerebral herniation for a sufficient duration and subsequent ischemia leading to the development of permanent CDI. Providers should be aware of CDI resulting from S. pneumoniae meningitis as prompt diagnosis and management may decrease the risk of permanent hypothalamo-pituitary axis damage. Copyright© South Dakota State Medical Association.

Atypical Right Hepatectomy for Liver Metastasis from Ovarian Leiomyosarcoma - A Case Report and Literature Review.

PubMed

Bacalbasa, Nicolae; Taras, Cornelia; Orban, Carmen; Iliescu, Laura; Hurjui, Ioan; Hurjui, Marcela; Niculescu, Nicoleta; Cristea, Mirela; Balescu, Irina

2016-04-01

Ovarian leiomyosarcomas are extremely rare ovarian malignancies, usually associated with poor prognosis in terms of survival. Most often, ovarian leiomyosarcomas are diagnosed in postmenopausal women at an advanced stage of disease, the main symptoms consisting of abdominal pain. We present the case of a 52-year-old patient who was initially submitted to surgery for a large ruptured ovarian tumor in April 2009; at that time, total hysterectomy with bilateral adnexectomy, omentectomy, pelvic and para-aortic lymph node dissection were performed. The histopathological studies revealed the presence of an ovarian leiomyosarcoma. Five years later, the patient was diagnosed with a unique, ruptured liver metastasis and an atypical right hepatectomy was performed. The histopathological studies confirmed the metastatic origin of the lesion. At 2-year-follow-up the patient is still free from recurrent disease. Copyright© 2016 International Institute of Anticancer Research (Dr. John G. Delinassios), All rights reserved.

P63 Positive Mucoepidermoid Tumor of the Lacrimal Sac with Associated Papilloma.

PubMed

Iordanous, Yiannis; Belrose, Jillian C; Cadieux, Dani C; Chakrabarti, Subrata; Farmer, James P; Allen, Larry H

2015-01-01

We report a case of a 44-year-old man who presented with a left medial canthal mass and epiphora. Imaging was suggestive of a mass continuous with the nasolacrimal sac. Subsequent surgical exploration revealed a mass adherent to bone with invasion of the lacrimal system. Histological examination revealed a squamous/transitional cell papilloma overlying a low-grade mucoepidermoid carcinoma (MEC). Complete surgical resection was completed and pathology confirmed the diagnosis. This is the first case in which a MEC has been reported concurrently with an overlying papilloma, providing support for the hypothesis that MECs arise from papillomas in the lacrimal sac. Additionally, the tissue stained positive for p63, which is congruent with MEC immunoreactivity in the salivary gland. The description of these unique histopathological findings may assist in definitive diagnosis and improve our understanding of the pathophysiology underlying lacrimal sac MEC tumors.

Implant-based oral rehabilitation of a variant model of type I dentinal dysplasia: A rare case report

PubMed Central

Nettem, Sowmya; Nettemu, Sunil Kumar; Basha, K.; Venkatachalapathi, S

2014-01-01

Dentin dysplasia is an exceptionally rare, autosomal-dominant, hereditary condition, primarily characterized by defective dentin formation affecting both the deciduous and permanent dentitions. The etiology remains imprecise to date, in spite of the numerous hypotheses put forward and the constant updates on this condition. This case report of type I dentin dysplasia exhibits radiographic findings that are unique and diverse from the classical findings of various subtypes of this disease reported to date. This article also depicts the implant-based oral rehabilitation of the young patient diagnosed with this variant model of dentin dysplasia type I. Early diagnosis and implementation of this preventive and curative therapy is vital for avoiding premature exfoliation of deciduous and permanent dentition and the associated residual ridge resorption, thereby overcoming functional and esthetic deficits and ensuring protection of the remaining dentition from further harm. PMID:25225567

Current status and future prospects of yellow fever vaccines.

PubMed

Beck, Andrew S; Barrett, Alan D T

2015-01-01

Yellow fever 17D vaccine is one of the oldest live-attenuated vaccines in current use that is recognized historically for its immunogenic and safe properties. These unique properties of 17D are presently exploited in rationally designed recombinant vaccines targeting not only flaviviral antigens but also other pathogens of public health concern. Several candidate vaccines based on 17D have advanced to human trials, and a chimeric recombinant Japanese encephalitis vaccine utilizing the 17D backbone has been licensed. The mechanism(s) of attenuation for 17D are poorly understood; however, recent insights from large in silico studies have indicated particular host genetic determinants contributing to the immune response to the vaccine, which presumably influences the considerable durability of protection, now in many cases considered to be lifelong. The very rare occurrence of severe adverse events for 17D is discussed, including a recent fatal case of vaccine-associated viscerotropic disease.

Current Status and Future Prospects of Yellow Fever Vaccines

PubMed Central

Beck, Andrew S.; Barrett, Alan D.T.

2017-01-01

Summary Yellow fever 17D vaccine is one of the oldest live-attenuated vaccines in current use that is recognized for historically immunogenic and safe properties. These unique properties of 17D are presently exploited in rationally designed recombinant vaccines targeting not only flaviviral antigens but also other pathogens of public health concern. Several candidate vaccines based on 17D have advanced to human trials, and a chimeric recombinant Japanese encephalitis vaccine utilizing the 17D backbone has been licensed. The mechanism(s) of attenuation for 17D are poorly understood; however, recent insights from large in silico studies have indicated particular host genetic determinants contributing to the immune response to the vaccine, which presumably influences the considerable durability of protection, now in many cases considered to be life-long. The very rare occurrence of severe adverse events for 17D is discussed, including a recent fatal case of vaccine-associated viscerotropic disease. PMID:26366673

Anabolic steroid-induced cardiomyopathy underlying acute liver failure in a young bodybuilder.

PubMed

Bispo, Miguel; Valente, Ana; Maldonado, Rosário; Palma, Rui; Glória, Helena; Nóbrega, João; Alexandrino, Paula

2009-06-21

Heart failure may lead to subclinical circulatory disturbances and remain an unrecognized cause of ischemic liver injury. We present the case of a previously healthy 40-year-old bodybuilder, referred to our Intensive-Care Unit of Hepatology for treatment of severe acute liver failure, with the suspicion of toxic hepatitis associated with anabolic steroid abuse. Despite the absence of symptoms and signs of congestive heart failure at admission, an anabolic steroid-induced dilated cardiomyopathy with a large thrombus in both ventricles was found to be the underlying cause of the liver injury. Treatment for the initially unrecognized heart failure rapidly restored liver function to normal. To our knowledge, this is the first reported case of severe acute liver failure due to an unrecognized anabolic steroid-induced cardiomyopathy. Awareness of this unique presentation will allow for prompt treatment of this potentially fatal cause of liver failure.

Internet-purchased ibogaine toxicity confirmed with serum, urine, and product content levels.

PubMed

O'Connell, Charles W; Gerona, Roy R; Friesen, Matthew W; Ly, Binh T

2015-07-01

Ibogaine, a psychotropic indole alkaloid, is gaining popularity among medical subcultures for its purported anti addictive properties. Its use has been associated with altered mental status, ataxia, gastrointestinal distress, ventricular arrhythmias, and sudden and unexplained deaths.Its pharmacokinetics in toxic states is not well understood. Case report:A 33-year-old man overdosed on ibogaine in an attempt to quit his use of heroin. He developed altered state of consciousness, tremor, ataxia,nausea, vomiting, and transient QT interval prolongation, which all remitted as he cleared the substance. Ibogaine was confirmed in his urine and serum with a peak serum concentration of 377 ng/mL. Nonlinear elimination kinetics and a formula match to its active metabolite noriobgaine were observed as well. This case presents the unique description of serial serum concentrations as well as urine and product-confirmed ibogaine toxicity with transient toxin-related QT interval prolongation.

Evolution of Pleistocene to Holocene eruptions in the Lesser Caucasus Mts:Insights from geology, petrology, geochemistry and geochronology

NASA Astrophysics Data System (ADS)

Savov, Ivan; Meliksetian, Khachatur; Connor, Charles; Karakhanian, Arkadi; Sugden, Patrick; Navasardyan, Gevorg; Halama, Ralf; Ishizuka, Osamu; Connor, Laura; Karapetian, Sergei

2016-04-01

Both effusive and highly explosive (VEI>5) and often voluminous caldera volcanism has developed atop the collision zone between the Arabian and the Eurasian plates. Currently what is exposed on the Anatolian-Armenian-Iranian active orogenic plateau is post-Mesozoic felsic to intermediate collision-related plutons, and mostly collision or post-collision related Quaternary volcanic structures. We have studied in detail the volcanism, tectonics and geophysics on the territory of E.Turkey and Armenia, where several large stratovolcanoes (Ararat, Lesser Ararat, Aragats, Tsghuk, Ishkhanasar) are surrounded by distinct monogenetic volcanic fields (distributed volcanism). These large in volume stratovolcanoes and the associated low volume monogenetic cones range from normal calk-alkaline to high-K shoshonitic in affinity, with their products ranging from basanites to high K trachytes and rhyolites. Several volcanic provinces, namely Kechut/Javakheti, Aragats, Gegham, Vardenis and Syunik are recognized in Armenia and each of them has > 100 mapped volcanoes. These have distinct geochemical (mineral chemistry, trace element and Sr-Nd-B isotope systematics) and petrological (melt eruption temperatures and volatile contents) fingerprints that may or may not vary over time. Age determinations and volcano-stratigraphy sections for each of the case studies we aim to present shows that the volcanism includes a continuous record from Pleistocene to Holocene, or even historical eruptions. The excellent volcano exposures and the now complete high resolution database (GIS), geological mapping, and new and improved K-Ar and Ar-Ar geochronology, uniquely allows us to evaluate the driving forces behind the volcanism in this continent-continent collision setting that is uniquely associated with long lasting eruption episodes. We shall compare the now well studied historical/Holocene eruptions with those pre-dating them, with the aim to identify possible geochemical or petrological precursors, on both local and regional scales. Our presentation will include several case studies, new ages, high resolution maps of many volcanoes and their association with young active faulting and often large earthquakes. We will present one particular high resolution case study (on Aragats volcanic complex) where we attempted to quantify the volcanic hazards. This is important as this region hosts the active Metsamor nuclear power plant and the capital city of Yerevan (population > 1.4 million), where people live in area with very low (10^6), yet existing risk for a renewed volcanic activity.

Diagnostic yield of cystoscopy in the evaluation of recurrent urinary tract infection in women.

PubMed

Pagano, Matthew J; Barbalat, Yanina; Theofanides, Marissa C; Edokpolo, Leonard; James, Maxwell B; Cooper, Kimberly L

2017-03-01

Due to a paucity of evidence-based guidelines, anecdotal practice patterns often dictate clinical management of recurrent urinary tract infection (UTI) in women. Our aim was to identify pathologic findings of the urinary tract through cystoscopy and imaging in women with recurrent UTI, and to determine if specific risk factors are associated with a higher rate of abnormal findings. In a single-institutional cohort, cystoscopy was performed for women with recurrent UTI between 1/2010 and 7/2014. All eligible patients were included in a maintained database and those with gross or microscopic hematuria were excluded. Abdominopelvic imaging was recommended and included in study data when completed. Associations between clinical risk factors (history of renal transplant, urogynecologic surgery, or urolithiasis) and abnormal findings were analyzed by Fisher's exact test. A total of 163 women (mean age 60.6 years) were included in final analysis. Abdominopelvic imaging was available in 133 (82%) cases. Cystoscopy identified 9 (5.5%) cases of significant clinical findings. Of these only 5 (3.8%) cases were uniquely identified on cystoscopy and missed on imaging modalities. When imaging was normal, cystoscopy was also normal in 94% of cases. The examined clinical risk factors were not associated with higher risk of abnormal cystoscopy (P = 0.49) or imaging (P = 0.42). Cystoscopy performed solely for recurrent UTI is low yield in patients with normal imaging studies, but a small number of abnormal findings may be missed by foregoing this element of the patient workup. No studied risk factor was predictive of an abnormal workup. Neurourol. Urodynam. 36:692-696, 2017. © 2016 Wiley Periodicals, Inc. © 2016 Wiley Periodicals, Inc.

Fungal Infections of the Spine.

PubMed

Ganesh, Devin; Gottlieb, Jonathan; Chan, Sherilynn; Martinez, Octavio; Eismont, Frank

2015-06-15

Review of the literature. To retrospectively examine the frequency of published fungal infections by species and the treatment algorithms used to eradicate the disease. Fungal infections of the spine present unique challenges to the modern multispecialty treatment team. Although rare in comparison with bacterial infections, fungal infections have been increasing in incidence over the past several decades. Evidences-based practice is limited to referencing smaller case series. MEDLINE, Scopus, and EMBASE searches were carried out by one of the authors as well as by the research desk at the University of Miami/Calder Memorial Library. We included peer-reviewed articles published between 1948 and September 2010; case reports, series, and reviews were all examined and compiled into a database. A total of 130 articles, representing 157 cases, were included in the review. Aspergillus (60 cases, 38.2% of the total) and Candida species (36 cases, 22.9% of the total) were the 2 most common organisms. Surgery was associated with a greater survival rate than medical management alone in patients with Aspergillus (26.9% mortality in surgical patients; 60% in medically treated patients) and Candida (0% vs. 28.6%). Overall mortality was 19.3%. The overall recurrence rate was 7.4%. Amphotericin use was associated with a higher mortality rate than azoles. Aspergillus is the most common published pathogen in fungal infections of the spine. Recent publications depicting the use of newer antifungal medications such as azoles report higher survival rates. Surgically treated patients in combination with antifungal therapy showed highest frequencies of patient survival in Aspergillus and Candida infections. 3.

Semiparametric Bayesian analysis of gene-environment interactions with error in measurement of environmental covariates and missing genetic data.

PubMed

Lobach, Iryna; Mallick, Bani; Carroll, Raymond J

2011-01-01

Case-control studies are widely used to detect gene-environment interactions in the etiology of complex diseases. Many variables that are of interest to biomedical researchers are difficult to measure on an individual level, e.g. nutrient intake, cigarette smoking exposure, long-term toxic exposure. Measurement error causes bias in parameter estimates, thus masking key features of data and leading to loss of power and spurious/masked associations. We develop a Bayesian methodology for analysis of case-control studies for the case when measurement error is present in an environmental covariate and the genetic variable has missing data. This approach offers several advantages. It allows prior information to enter the model to make estimation and inference more precise. The environmental covariates measured exactly are modeled completely nonparametrically. Further, information about the probability of disease can be incorporated in the estimation procedure to improve quality of parameter estimates, what cannot be done in conventional case-control studies. A unique feature of the procedure under investigation is that the analysis is based on a pseudo-likelihood function therefore conventional Bayesian techniques may not be technically correct. We propose an approach using Markov Chain Monte Carlo sampling as well as a computationally simple method based on an asymptotic posterior distribution. Simulation experiments demonstrated that our method produced parameter estimates that are nearly unbiased even for small sample sizes. An application of our method is illustrated using a population-based case-control study of the association between calcium intake with the risk of colorectal adenoma development.

Complex coevolutionary history of symbiotic Bacteroidales bacteria of various protists in the gut of termites

PubMed Central

Noda, Satoko; Hongoh, Yuichi; Sato, Tomoyuki; Ohkuma, Moriya

2009-01-01

Background The microbial community in the gut of termites is responsible for the efficient decomposition of recalcitrant lignocellulose. Prominent features of this community are its complexity and the associations of prokaryotes with the cells of cellulolytic flagellated protists. Bacteria in the order Bacteroidales are involved in associations with a wide variety of gut protist species as either intracellular endosymbionts or surface-attached ectosymbionts. In particular, ectosymbionts exhibit distinct morphological patterns of the associations. Therefore, these Bacteroidales symbionts provide an opportunity to investigate not only the coevolutionary relationships with the host protists and their morphological evolution but also how symbiotic associations between prokaryotes and eukaryotes occur and evolve within a complex symbiotic community. Results Molecular phylogeny of 31 taxa of Bacteroidales symbionts from 17 protist genera in 10 families was examined based on 16S rRNA gene sequences. Their localization, morphology, and specificity were also examined by fluorescent in situ hybridizations. Although a monophyletic grouping of the ectosymbionts occurred in three related protist families, the symbionts of different protist genera were usually dispersed among several phylogenetic clusters unique to termite-gut bacteria. Similar morphologies of the associations occurred in multiple lineages of the symbionts. Nevertheless, the symbionts of congeneric protist species were closely related to one another, and in most cases, each host species harbored a unique Bacteroidales species. The endosymbionts were distantly related to the ectosymbionts examined so far. Conclusion The coevolutionary history of gut protists and their associated Bacteroidales symbionts is complex. We suggest multiple independent acquisitions of the Bacteroidales symbionts by different protist genera from a pool of diverse bacteria in the gut community. In this sense, the gut could serve as a reservoir of diverse bacteria for associations with the protist cells. The similar morphologies are considered a result of evolutionary convergence. Despite the complicated evolutionary history, the host-symbiont relationships are mutually specific, suggesting their cospeciations at the protist genus level with only occasional replacements. PMID:19586555

The Epidemiology of Liver Diseases Unique to Pregnancy in a US Community: A Population-Based Study.

PubMed

Allen, Alina M; Kim, W Ray; Larson, Joseph J; Rosedahl, Jordan K; Yawn, Barbara P; McKeon, Kimberly; Hay, J Eileen

2016-02-01

Little is known in the United States about the epidemiology of liver diseases that develop only during (are unique to) pregnancy. We investigated the incidence of liver diseases unique to pregnancy in Olmsted County, Minnesota, and long-term maternal and fetal outcomes. We identified 247 women with liver diseases unique to pregnancy from 1996 through 2010 using the Rochester Epidemiology Project database. The crude incidence rate was calculated by the number of liver disease cases divided by 35,101 pregnancies. Of pregnant women with liver diseases, 134 had preeclampsia with liver dysfunction, 72 had hemolysis-associated increased levels of liver enzymes and low-platelet (HELLP) syndrome, 26 had intrahepatic cholestasis of pregnancy, 14 had hyperemesis gravidarum with abnormal liver enzymes, and 1 had acute fatty liver of pregnancy. The crude incidence of liver diseases unique to pregnancy was 0.77%. Outcomes were worse among women with HELLP or preeclampsia than the other disorders--of women with HELLP, 70% had a premature delivery, 4% had abruptio placentae, 3% had acute kidney injury, and 3% had infant death. Of women with preeclampsia, 56.0% had a premature delivery, 4% had abruptio placentae, 3% had acute kidney injury, and 0.7% had infant death. After 7 median years of follow-up (range, 0-18 years), 14% of the women developed recurrent liver disease unique to pregnancy; the proportions were highest in women with initial hyperemesis gravidarum (36%) or intrahepatic cholestasis of pregnancy (35%). Women with preeclampsia were more likely to develop subsequent hepatobiliary diseases. We found the incidence of liver disease unique to pregnancy in Olmsted County, Minnesota, to be lower than that reported from Europe or US tertiary referral centers. Maternal and fetal outcomes in Olmsted County were better than those reported from other studies, but fetal mortality was still high (0.7%-3.0%). Women with preeclampsia or HELLP are at higher risk for peripartum complications and subsequent development of comorbidities. Copyright © 2016 AGA Institute. Published by Elsevier Inc. All rights reserved.

Physical angular momentum separation for QED

NASA Astrophysics Data System (ADS)

Sun, Weimin

2017-04-01

We study the non-uniqueness problem of the gauge-invariant angular momentum separation for the case of QED, which stems from the recent controversy concerning the proper definitions of the orbital angular momentum and spin operator of the individual parts of a gauge field system. For the free quantum electrodynamics without matter, we show that the basic requirement of Euclidean symmetry selects a unique physical angular momentum separation scheme from the multitude of the possible angular momentum separation schemes constructed using the various gauge-invariant extensions (GIEs). Based on these results, we propose a set of natural angular momentum separation schemes for the case of interacting QED by invoking the formalism of asymptotic fields. Some perspectives on such a problem for the case of QCD are briefly discussed.

Burden of Rotavirus Disease in Norway: Using National Registries for Public Health Research.

PubMed

Bruun, Tone; Salamanca, Beatriz Valcarcel; Bekkevold, Terese; Vainio, Kirsti; Gibory, Moustafa; Haugstad, Kirsti Egge; Rojahn, Astrid; Jakobsen, Kirsti; Størvold, Gunnar; Lunde, Anette; Størdal, Ketil; Kanestrøm, Anita; Eidem, Magnhild Owesen; Døllner, Henrik; Skanke, Lars Høsøien; Nordbø, Svein Arne; Sivertsen, Heidi Christin; Gilje, Ann Marit; Haarr, Elisebet; Flem, Elmira

2016-04-01

Norway introduced routine rotavirus immunization for all children born on or after September 1, 2014. We estimated the healthcare burden of all-cause gastroenteritis and rotavirus disease in children <5 years old to establish the prevaccine baseline and support the ongoing immunization program. We examined national registry data on gastroenteritis-associated primary care consultations and hospitalizations for 2009-2013 and data on all deaths in children <5 years old reported during 2000-2013. We also established rotavirus hospital surveillance from February 2014 through January 2015. Before vaccine introduction, 114.5 cases per 1000 children <5 years old were treated in primary care and 11.8 children per 1000 were hospitalized with gastroenteritis annually. During hospital surveillance, rotavirus was detected in 65% (95% confidence interval: 60-70) of inpatient gastroenteritis cases. We estimated that 4.0 inpatient and 2.3 outpatient cases per 1000 children were seen in hospital with rotavirus disease annually, suggesting that 1 in 32 children was hospitalized by age 5. Additional 30.6 rotavirus cases per 1000 children consulted primary care annually or 1 in every 7 children by the age of 5 years. Rotavirus-associated mortality was estimated at 0.17 deaths per 100,000 children <5 years old, corresponding to 1 death every second year. Rotavirus remains the primary cause of severe gastroenteritis in children in Norway. The unique population-based registers, in combination with an established rotavirus surveillance platform, provide a well-suited setting to evaluate the impact of rotavirus vaccination.

Chondroblastic osteosarcoma arising in the maxilla mimicking the radiographic and histological characteristics of cemento-osseous lesions: A case report.

PubMed

Li, Bin-Bin; Zhang, Jian-Yun; Gao, Yan

2017-05-01

Osteosarcomas of the jaw are comparatively rare and represent only 2-10% of all osteosarcomas. We herein present a rare case of an osteosarcoma exhibiting the radiographic and histological characteristics of cemento-osseous lesions in the alveolar ridge of the maxilla. A 53-year-old male patient presented with the complaint of gradual swelling of the left maxilla over 4 years. Radiography revealed an ill-defined radioopaque mass, intimately associated with the apices of the involved teeth, without a periosteal reaction. Microscopically, a cementicle-like structure was identified in the alveolar bone. In addition, the lesion exhibited typical characteristics of chondroblastic osteosarcoma in the body of the maxilla. The tumor contained abundant osteoid and cartilage intimately associated with anaplastic tumor cells. The cartilage displayed malignant-appearing cells in lacunae, and there was crowding at the periphery of the lobule where the spindle cells formed sheets. The differential diagnosis included primary osteosarcoma, concurrent cemento-osseous dysplasia and osteosarcoma, or a secondary osteosarcoma based on a pre-existing cemento-osseous lesion. The presence of the cementicle-like structure in the alveolar bone and the involvement of the periodontal ligament and alveolar bone proper were unique in our case. The general invasive growth pattern and the abundance of the irregular tumor bone helped establish the diagnosis of primary osteosarcoma. This case may represent evidence of the pathogenesis of primary osteosarcoma in the jaw.

Chondroblastic osteosarcoma arising in the maxilla mimicking the radiographic and histological characteristics of cemento-osseous lesions: A case report

PubMed Central

Li, Bin-Bin; Zhang, Jian-Yun; Gao, Yan

2017-01-01

Osteosarcomas of the jaw are comparatively rare and represent only 2–10% of all osteosarcomas. We herein present a rare case of an osteosarcoma exhibiting the radiographic and histological characteristics of cemento-osseous lesions in the alveolar ridge of the maxilla. A 53-year-old male patient presented with the complaint of gradual swelling of the left maxilla over 4 years. Radiography revealed an ill-defined radioopaque mass, intimately associated with the apices of the involved teeth, without a periosteal reaction. Microscopically, a cementicle-like structure was identified in the alveolar bone. In addition, the lesion exhibited typical characteristics of chondroblastic osteosarcoma in the body of the maxilla. The tumor contained abundant osteoid and cartilage intimately associated with anaplastic tumor cells. The cartilage displayed malignant-appearing cells in lacunae, and there was crowding at the periphery of the lobule where the spindle cells formed sheets. The differential diagnosis included primary osteosarcoma, concurrent cemento-osseous dysplasia and osteosarcoma, or a secondary osteosarcoma based on a pre-existing cemento-osseous lesion. The presence of the cementicle-like structure in the alveolar bone and the involvement of the periodontal ligament and alveolar bone proper were unique in our case. The general invasive growth pattern and the abundance of the irregular tumor bone helped establish the diagnosis of primary osteosarcoma. This case may represent evidence of the pathogenesis of primary osteosarcoma in the jaw. PMID:28529749

High-density livestock operations, crop field application of manure, and risk of community-associated methicillin-resistant Staphylococcus aureus infection, Pennsylvania, USA

PubMed Central

Casey, Joan A.; Curriero, Frank C.; Cosgrove, Sara E.; Nachman, Keeve E.; Schwartz, Brian S.

2015-01-01

Context Nearly 80% of antibiotics in the United States are sold for use in livestock feeds. The manure produced by these livestock contains antibiotic-resistant bacteria, resistance genes, and antibiotics, and is subsequently applied to crop fields where it may put community members at risk for antibiotic-resistant infections. Objective To assess the association between individual exposure to swine and dairy/veal industrial agriculture and risk of methicillin-resistant Staphylococcus aureus (MRSA) infection. Design, Setting, and Participants A population-based, nested case-control study of Geisinger primary care patients in Pennsylvania from 2005–2010. Incident MRSA cases were identified using electronic health records, classified as community-associated or healthcare-associated, and frequency-matched to randomly selected controls and patients with skin and soft tissue infection. Nutrient management plans were used to create two exposure variables: seasonal crop field manure application and number of livestock at the operation. In a sub-study we collected 200 isolates from patients stratified by location of diagnosis and proximity to livestock operations. Main outcome measures Community-associated MRSA, healthcare associated-MRSA, and skin and soft tissue infection status (with no history of MRSA) compared to controls. Results From 446,480 patients, 1539 community-associated MRSA, 1335 healthcare-associated MRSA, 2895 skin and soft tissue infection cases, and 2914 controls were included. After adjustment for MRSA risk factors, the highest quartile of swine crop field exposure was significantly associated with community-associated MRSA, healthcare-associated MRSA, and skin and soft tissue infection case status (adjusted odds ratio, 1.38 [95% CI, 1.13–1.69], 1.30 [95% CI, 1.05–1.61], and 1.37 [95% CI, 1.18–1.60], respectively); and there was a trend of increasing odds across quartiles for each outcome (all P for trend ≤0.01). There were similar but weaker associations of swine operations with community-associated MRSA and skin and soft tissue infection. Molecular testing of 200 isolates identified 31 unique spa types, none of which corresponded to CC398, but some have been previously found in swine. Conclusion Proximity to swine manure application to crop fields and livestock operations each was associated with MRSA and skin and soft tissue infection. These findings contribute to the growing concern about the potential public health impacts of high-density livestock production. PMID:24043228

Glial heterotopia in an adult: A rare orbital mass.

PubMed

Sundaresh, Divya Dabir; Mangala Gouri, S R

2016-11-01

Heterotopic glial tissue is very rare in the orbit. Our case was an adult, which is unique since most cases reported in literature involve children. We describe a case of a 60-year-old man who presented with an orbital mass, which histopathologically revealed heterotopic glial tissue.

Epidural volume extension: A novel technique and its efficacy in high risk cases

PubMed Central

Tiwari, Akhilesh Kumar; Singh, Rajeev Ratan; Anupam, Rudra Pratap; Ganguly, S.; Tomar, Gaurav Singh

2012-01-01

We present a unique case series restricting ourselves only to the high-risk case of different specialities who underwent successful surgery in our Institute by using epidural volume extension's technique using 1 mL of 0.5% ropivacaine and 25 μg of fentanyl. PMID:25885627

Debating Historical Propositions: Toward a Unique Genre of NEDA Debate.

ERIC Educational Resources Information Center

Scott, David K.

The best way to develop a unique identity for the National Education Debate Association (NEDA) is to debate propositions distinct from National Debate Tournament (NDT) and the Cross Examination Debate Association (CEDA). A neglected area of debate includes propositions temporally framed in the past. Yet, the present propositional categories of…