Central nervous system borreliosis mimicking a pontine tumour.

PubMed

Latsch, Kirsten; Tappe, Dennis; Warmuth-Metz, Monika; Hebestreit, Helge

2006-11-01

In childhood, facial nerve palsy and headache are typical symptoms of second and third stage neuroborreliosis. While focal demyelination is occasionally observed on MRI scans, the appearance of a tumorous lesion is extremely rare. The case of a 10-year-old girl with neuroborreliosis mimicking a space-occupying lesion in the brainstem, without any previously recognized manifestations of borreliosis, is reported.

Subependymal Heterotopia Mimicking Mass in Conventional Magnetic Resonance Imaging: Demonstration With 3T Advanced Neuroimages.

PubMed

Aktas, Filiz; Ogul, Hayri

2017-10-01

The authors reported a rare patient with large subependymal heterotopia mimicking cerebral neoplasia. A 22-year-old female was admitted with a history of right-sided paresthesia accompanied by progressive headache. Cerebral magnetic resonance (MR) imaging showed a large solid lesion in the left frontal lobe. Advanced MR images proved that the lesion was compatible with subependymal heterotopia. Large subependymal heterotopia may mimick cerebral neoplasia.

Primary Papillary Mucinous Adenocarcinoma of the Ureter Mimicking Genitourinary Tuberculosis

PubMed Central

Gulwani, Hanni; Jain, Aruna

2010-01-01

Primary adenocarcinomas of the renal pelvis and ureter are rare and account for less than 1% of all malignancies at this site. We report a case of primary papillary mucinous adenocarcinoma of the ureter that clinically mimicked genitourinary tuberculosis. Early diagnosis is important for the better outcome. PMID:21151719

Abdominal Wall Endometriosis Mimicking Metastases.

PubMed

Nambiar, Rakul; Anoop, T M; Mony, Rari P

2018-06-01

Abdominal wall lesions can be broadly divided into nontumorous and tumorous conditions. Nontumorous lesions include congenital lesion, abdominal wall hernia, inflammation and infection, vascular lesions, and miscellaneous conditions like hematoma. Tumorous lesions include benign and malignant neoplasms. Here, we report an unusual case of abdominal wall endometriosis mimicking metastases in a patient with breast carcinoma.

Extraventricular neurocytoma in a child mimicking oligodendroglioma: a diagnostic pitfall.

PubMed

Limaiem, F; Bellil, S; Chelly, I; Mekni, A; Bellil, K; Jemel, H; Haouet, S; Zitouna, M; Kchir, N

2009-04-01

Extraventricular neurocytomas are rare neuronal tumours that have been included in the 2007 WHO classification as a variant of central neurocytoma. They arise outside the ventricles, usually within the cerebral hemisphere,s but also in other regions throughout the neuraxis. The morphological overlap of these tumours with oligodendroglioma often poses diagnostic difficulty. Herein, a case of extraventricular neurocytoma in a 4-year-old girl is reported that mimicked histologically oligodendroglioma. The authors describe the clinicopathological features of this rare entity with special emphasis on differential diagnosis.

Epidermal cyst mimicking incision line metastasis.

PubMed

Gündoğdu, Ramazan; Ayhan, Erhan; Çolak, Tahsin

2017-01-01

Epidermal cysts are cystic tumors lined with keratinized squamous layer and filled with keratin debris. Epidermal cysts may develop by implantation of surface epidermal layer into the dermis or subcutaneous tissue after trauma or surgical procedures. Cervix cancer spreads either directly or via the vascular and lymphatic systems. Distant skin metastasis of endometrium or cervix cancer is very rare. In this case report, a patient who had a history of cervix cancer operation 11 years ago and presented with a mass that mimicked incision line metastasis and was histopathologically diagnosed with epidermal cyst is presented.

A High-Grade Chondrosarcoma of Calcaneum Mimicking as a Benign Pathology: Delayed Diagnosis and Management.

PubMed

Baba, Muzamil Ahmad; Nazir, Naila; Shabeer, Maajid; Mir, Bashir Ahmed; Kawoosa, Altaf Ahmad

2016-10-01

This case is presented to highlight a rare case of chondrosarcoma of calcaneum in a young adult mimicking as a benign pathology and to highlight the diagnosis and early management of such cases to prevent complications and even death. Chondrosarcoma constitutes less than 10% of all primary malignancies of bone and occurs mostly in proximal locations such as pelvis, proximal femur, and proximal humerus. We present a case of high-grade chondrosarcoma at a very rare site, calcaneum of a 40-year-old male that was mimicking as a benign pathology. This case report highlights the importance of proper clinical examination, evaluation, and suspicion for benign occurring lesions to prevent complications related to a delay in diagnosis. Therapeutic, Level IV: Case study. © 2016 The Author(s).

Standardized Assay Medium To Measure Lactococcus lactis Enzyme Activities while Mimicking Intracellular Conditions

PubMed Central

Goel, Anisha; Santos, Filipe; de Vos, Willem M.; Teusink, Bas

2012-01-01

Knowledge of how the activity of enzymes is affected under in vivo conditions is essential for analyzing their regulation and constructing models that yield an integrated understanding of cell behavior. Current kinetic parameters for Lactococcus lactis are scattered through different studies and performed under different assay conditions. Furthermore, assay conditions often diverge from conditions prevailing in the intracellular environment. To establish uniform assay conditions that resemble intracellular conditions, we analyzed the intracellular composition of anaerobic glucose-limited chemostat cultures of L. lactis subsp. cremoris MG 1363. Based on this, we designed a new assay medium for enzyme activity measurements of growing cells of L. lactis, mimicking as closely as practically possible its intracellular environment. Procedures were optimized to be carried out in 96-well plates, and the reproducibility and dynamic range were checked for all enzyme activity measurements. The effects of freezing and the carryover of ammonium sulfate from the addition of coupling enzymes were also established. Activities of all 10 glycolytic and 4 fermentative enzymes were measured. Remarkably, most in vivo-like activities were lower than previously published data. Yet, the ratios of Vmax over measured in vivo fluxes were above 1. With this work, we have developed and extensively validated standard protocols for enzyme activity measurements for L. lactis. PMID:22020503

Reticulated acanthoma with sebaceous differentiation mimicking melanoma

PubMed Central

Ribeiro, Felipe; Leocadia, Elizabeth; Macarenco, Ricardo S.; Lapins, Jan; Huet, Pascale; Akay, Bengu Nisa; Steiner, Denise

2017-01-01

Reticulated acanthoma with sebaceous differentiation (RASD) is a rare, benign cutaneous tumor with peculiar histopathologic characteristics [1]. RASD had been described under various synonyms such as superficial epithelioma with sebaceous differentiation, sebocrine adenoma, poroma with sebaceous differentiation, and seborrheic keratosis with sebaceous differentiation [2]. Clinical differential diagnosis of RASD includes cutaneous superficial epithelial neoplasia such as Bowen’s disease, superficial basal cell carcinoma (BCC) and intraepidermal eccrine poroma [1]. We report the first case of RASD mimicking both clinically and dermoscopically a melanoma. PMID:29085717

Primary omental gangrene mimicking appendicular perforation peritonitis-A case report.

PubMed

Kumar, A; Shah, J; Vaidya, P

2016-01-01

Primary omental torsion is a rare cause of acute abdomen in adults and presents with variable signs and symptoms. Establishing a preoperative diagnosis may be difficult in the emergency setting. It is rarely diagnosed preoperatively as it mimics common surgical emergencies such as acute appendicitis, appendicular perforation, acute cholecystitis and perforated peptic ulcers and can lead to the clinical deterioration of patient if missed A 47 years old male was taken to the operating room with a diagnosis of appendicular perforation peritonitis and during surgery was found to have a primary omental gangrene with pyoperitoneum, for which omentectomy and peritoneal lavage was performed. Torsion of the omentum is a condition in which the organ twists on its long axis to such an extent that its vascularity is compromised. Omental torsion can be primary (idiopathic) or secondary, depending on an underlying cause. Primary omental torsion was first described by Eitel in 1899. However, very few cases have been reported. Our case was a rare case presenting with omental gangrene with pyoperitoneum mimicking appendicular perforation peritonitis. Primary omental torsion is a rare diagnosis. A high index of clinical suspicion is required for a preoperative diagnosis. In doubtful cases a CT scan may be helpful. Surgical excision of the omentum remains the treatment of choice; however, conservative management may be attempted in an uncomplicated omental torsion. Copyright © 2016 The Authors. Published by Elsevier Ltd.. All rights reserved.

Epidermal cyst mimicking incision line metastasis

PubMed Central

Gündoğdu, Ramazan; Ayhan, Erhan; Çolak, Tahsin

2017-01-01

Epidermal cysts are cystic tumors lined with keratinized squamous layer and filled with keratin debris. Epidermal cysts may develop by implantation of surface epidermal layer into the dermis or subcutaneous tissue after trauma or surgical procedures. Cervix cancer spreads either directly or via the vascular and lymphatic systems. Distant skin metastasis of endometrium or cervix cancer is very rare. In this case report, a patient who had a history of cervix cancer operation 11 years ago and presented with a mass that mimicked incision line metastasis and was histopathologically diagnosed with epidermal cyst is presented. PMID:28740968

Addison's Disease Mimicking as Acute Pancreatitis: A Case Report.

PubMed

Chaudhuri, Sayani; Rao, Karthik N; Patil, Navin; Ommurugan, Balaji; Varghese, George

2017-04-01

Over past two decades there has been significant improvement in medical field in elucidating the underlying pathophysiology and genetics of Addison's disease. Adrenal insufficiency (Addison's disease) is a rare disease with an incidence of 0.8/100,000 cases. The diagnosis may be delayed if the clinical presentation mimics a gastrointestinal disorder or psychiatric illness. We report a case of Addison's disease presenting as acute pain in abdomen mimicking clinical presentation of acute pancreatitis.

Inflammatory Myofibroblastic Tumor Mimicking Apical Periodontitis.

PubMed

Adachi, Makoto; Kiho, Kazuki; Sekine, Genta; Ohta, Takahisa; Matsubara, Makoto; Yoshida, Takakazu; Katsumata, Akitoshi; Tanuma, Jun-ichi; Sumitomo, Shinichiro

2015-12-01

Inflammatory myofibroblastic tumors (IMTs) are rare. IMTs of the head and neck occur in all age groups, from neonates to old age, with the highest incidence occurring in childhood and early adulthood. An IMT has been defined as a histologically distinctive lesion of uncertain behavior. This article describes an unusual case of IMT mimicking apical periodontitis in the mandible of a 42-year-old man. At first presentation, the patient showed spontaneous pain and percussion pain at teeth #28 to 30, which continued after initial endodontic treatment. Panoramic radiography revealed a radiolucent lesion at the site. Cone-beam computed tomographic imaging showed osteolytic lesions, suggesting an aggressive neoplasm requiring incisional biopsy. Histopathological examination indicated an IMT. The lesion was removed en bloc under general anesthesia, and the patient manifested no clinical evidence of recurrence for 24 months. Lesions of nonendodontic origin should be included in the differential diagnosis of apical periodontitis. Every available diagnostic tool should be used to confirm the diagnosis. Cone-beam computed tomographic imaging is very helpful for differential diagnosis in IMTs mimicking apical periodontitis. Copyright © 2015 American Association of Endodontists. Published by Elsevier Inc. All rights reserved.

Fibromatosis of the breast mimicking an abscess: case report of unusual sonographic features.

PubMed

Lee, So Min; Lee, Ji Young; Lee, Byung Hoon; Kim, Su Young; Joo, Mee; Kim, Jae Il

2015-01-01

Fibromatosis of the breast, also known as a desmoid tumor, is extremely rare and most often appears as an aggressive lesion mimicking breast carcinoma. It lacks metastatic potential but can grow aggressively in a localized area. Ultrasonography often shows an irregular spiculated hypoechoic mass with posterior acoustic shadowing. We discuss a case of breast fibromatosis that presented as a painful palpable breast mass in a 32-year-old woman and mimicked an abscess in the sonogram. We found that this lesion displayed atypical sonographic features such as a heterogeneous echoic mass with an internal anechoic area. Copyright © 2015 Elsevier Inc. All rights reserved.

Ecthyma gangrenosum mimicking acute invasive fungal sinusitis in an immunocompromised patient.

PubMed

Hekiert, Adrianna M; Cohen, Michael B; Montone, Kathleen T; Palmer, James N; Govindaraj, Satish

2010-06-01

Ecthyma gangrenosum is a rare necrotizing cutaneous infection usually caused by Pseudomonas aeruginosa. We report a case of ecthyma gangrenosum presenting as a sinonasal eschar and mimicking acute invasive fungal sinusitis in an immunocompromised 39-year-old man with a hematologic malignancy. To the best of our knowledge, this represents the first case of ecthyma gangrenosum affecting the sinonasal mucosa to be reported in the literature.

Heating efficiency evaluation with mimicking plasma conditions of integrated fast-ignition experiment.

PubMed

Fujioka, Shinsuke; Johzaki, Tomoyuki; Arikawa, Yasunobu; Zhang, Zhe; Morace, Alessio; Ikenouchi, Takahito; Ozaki, Tetsuo; Nagai, Takahiro; Abe, Yuki; Kojima, Sadaoki; Sakata, Shohei; Inoue, Hiroaki; Utsugi, Masaru; Hattori, Shoji; Hosoda, Tatsuya; Lee, Seung Ho; Shigemori, Keisuke; Hironaka, Youichiro; Sunahara, Atsushi; Sakagami, Hitoshi; Mima, Kunioki; Fujimoto, Yasushi; Yamanoi, Kohei; Norimatsu, Takayoshi; Tokita, Shigeki; Nakata, Yoshiki; Kawanaka, Junji; Jitsuno, Takahisa; Miyanaga, Noriaki; Nakai, Mitsuo; Nishimura, Hiroaki; Shiraga, Hiroyuki; Nagatomo, Hideo; Azechi, Hiroshi

2015-06-01

A series of experiments were carried out to evaluate the energy-coupling efficiency from heating laser to a fuel core in the fast-ignition scheme of laser-driven inertial confinement fusion. Although the efficiency is determined by a wide variety of complex physics, from intense laser plasma interactions to the properties of high-energy density plasmas and the transport of relativistic electron beams (REB), here we simplify the physics by breaking down the efficiency into three measurable parameters: (i) energy conversion ratio from laser to REB, (ii) probability of collision between the REB and the fusion fuel core, and (iii) fraction of energy deposited in the fuel core from the REB. These three parameters were measured with the newly developed experimental platform designed for mimicking the plasma conditions of a realistic integrated fast-ignition experiment. The experimental results indicate that the high-energy tail of REB must be suppressed to heat the fuel core efficiently.

Glutaric Aciduria Type I: A Rare Metabolic Disorder Mimicking as Choreoathetoid Cerebral Palsy

PubMed Central

Sarangi, Pradosh Kumar; Sahoo, Lulup Kumar; Mallick, Ashok Kumar; Dash, Prafulla Kumar

2017-01-01

Glutaric aciduria type I (GA I) is an autosomal recessive inborn error of metabolism caused by a deficiency of the enzyme glutaryl-CoA dehydrogenase. This disorder is characterized by progressive dystonia, choreoathetosis, and dyskinesia. It is often misdiagnosed as athetoid cerebral palsy. Laboratory evaluation usually demonstrates increased urinary excretion of gluataric acid and 3-hydroxyglutaric acid. We report a case of a 7-year-old boy presenting with choreoathetosis and dystonia, mimicking as choreoathetoid cerebral palsy. The presence of characteristic neuroimaging and biochemical studies led to the diagnosis of GA I. PMID:28553392

Glutaric Aciduria Type I: A Rare Metabolic Disorder Mimicking as Choreoathetoid Cerebral Palsy.

PubMed

Sarangi, Pradosh Kumar; Sahoo, Lulup Kumar; Mallick, Ashok Kumar; Dash, Prafulla Kumar

2017-01-01

Glutaric aciduria type I (GA I) is an autosomal recessive inborn error of metabolism caused by a deficiency of the enzyme glutaryl-CoA dehydrogenase. This disorder is characterized by progressive dystonia, choreoathetosis, and dyskinesia. It is often misdiagnosed as athetoid cerebral palsy. Laboratory evaluation usually demonstrates increased urinary excretion of gluataric acid and 3-hydroxyglutaric acid. We report a case of a 7-year-old boy presenting with choreoathetosis and dystonia, mimicking as choreoathetoid cerebral palsy. The presence of characteristic neuroimaging and biochemical studies led to the diagnosis of GA I.

Dedifferentiated Liposarcoma Mimicking a Primary Colon Mass.

PubMed

Hollowoa, Blake; Lamps, Laura W; Mizell, Jason S; English, George W; Bridge, Julia A; Ram, Roopa; Gardner, Jerad M

2018-04-01

Dedifferentiated liposarcoma is typically a nonlipogenic high-grade sarcoma that arises from well-differentiated liposarcoma. It most commonly presents as a large mass in the retroperitoneum. Significant involvement of the gastrointestinal tract by dedifferentiated liposarcoma is uncommon. We present a unique case of dedifferentiated liposarcoma radiographically mimicking a primary colon mass with resulting intussusception; stranding of the adjacent adipose tissue was presumed to be a secondary reactive change. On histopathologic analysis of the hemicolectomy specimen, a high-grade sarcoma was seen growing through the colonic wall, and the majority of the surrounding pericolonic adipose tissue was actually composed of well-differentiated liposarcoma with characteristic fibrous bands rather than benign fat with reactive fibrosis. This case raises awareness that well-differentiated liposarcoma and dedifferentiated liposarcoma can rarely present as a primary intestinal mass mimicking colon cancer or other more common entities. When radiographic examination shows a perigastrointestinal or retroperitoneal fatty mass and/or stranding of the fat adjacent to a solid gastrointestinal mass, this unusual scenario should be considered in the radiologic differential diagnosis. Pathologists should keep dedifferentiated liposarcoma in the initial histologic differential diagnosis for any high-grade spindle cell tumor of the retroperitoneum or intra-abdominal visceral organs.

Addison’s Disease Mimicking as Acute Pancreatitis: A Case Report

PubMed Central

Chaudhuri, Sayani; Rao, Karthik N; Ommurugan, Balaji; Varghese, George

2017-01-01

Over past two decades there has been significant improvement in medical field in elucidating the underlying pathophysiology and genetics of Addison’s disease. Adrenal insufficiency (Addison’s disease) is a rare disease with an incidence of 0.8/100,000 cases. The diagnosis may be delayed if the clinical presentation mimics a gastrointestinal disorder or psychiatric illness. We report a case of Addison’s disease presenting as acute pain in abdomen mimicking clinical presentation of acute pancreatitis. PMID:28571196

Subcutaneous Emphysema Mimicking Gas Gangrene Following Perforation of the Rectum: A Case Report

PubMed Central

Moon, Eun-Sun; Jung, Sung-Taek; Seo, Hyoung-Yeon

2004-01-01

We report a case of extensive subcutaneous emphysema of the lower extremity mimicking gas gangrene following perforation of the rectum in a 38-yr-old man. Subcutaneous emphysema of the leg may rarely occur secondary to perforation of the gastrointestinal tract and has often created serious diagnostic problems and high mortality rates. Therefore, prompt diagnosis and aggressive treatment is imperative. PMID:15483358

A large epidermoid cyst of breast mimicking carcinoma: A case report and review of literature

PubMed Central

Debnath, Debasish; Taribagil, Savita; Al-Janabi, Khalid J.S.; Inwang, Reggie

2012-01-01

INTRODUCTION Triple assessment of a suspicious breast lesion may not always provide a definite diagnosis. We report a case of epidermoid cyst of breast, which caused diagnostic dilemma in spite of a thorough triple assessment and entailed mastectomy. PRESENTATION OF CASE A 69-year-old woman presented with a large painful retroareolar left breast mass. Clinical examination, ultrasound and mammography were highly suspicious of malignancy. However, core biopsy suggested a benign lesion. Due to size of the lesion and diagnostic uncertainty, various options were discussed with the patient. She opted for a simple mastectomy. The histology confirmed a large epidermoid cyst. DISCUSSION It is rare for an epidermoid cyst to present as such an advanced lesion, mimicking carcinoma. Excision of such a large retroareolar ‘benign’ lesion, however, may sometime entail mastectomy. This is the first reported case of an epidermoid cyst of breast necessitating mastectomy. CONCLUSION Diagnostic dilemma while dealing with a suspected breast cancer is not rare. Involvement of multidisciplinary team as well as patient is important in the decision-making. The report illustrates a rare presentation of a deep seated large epidermoid cyst of breast, which mimicked carcinoma, caused diagnostic confusion and entailed mastectomy. We strongly advocate the option of breast reconstruction in such cases. PMID:22705938

Enhanced Biotransformation of Fluoranthene by Intertidally Derived Cunninghamella elegans under Biofilm-Based and Niche-Mimicking Conditions

PubMed Central

Mitra, Sayani; Pramanik, Arnab; Banerjee, Srijoni; Haldar, Saubhik; Gachhui, Ratan

2013-01-01

The aims of the investigation were to ascertain if surface attachment of Cunninghamella elegans and niche intertidal conditions provided in a bioreactor influenced biotransformation of fluoranthene by C. elegans. A newly designed polymethylmethacrylate (PMMA) conico-cylindrical flask (CCF) holding eight equidistantly spaced rectangular strips mounted radially on a circular disc allowed comparison of fluoranthene biotransformation between CCFs with a hydrophobic surface (PMMA-CCF) and a hydrophilic glass surface (GS-CCF) and a 500-ml Erlenmeyer flask (EF). Fluoranthene biotransformation was higher by 22-fold, biofilm growth was higher by 3-fold, and cytochrome P450 gene expression was higher by 2.1-fold when C. elegans was cultivated with 2% inoculum as biofilm culture in PMMA-CCF compared to planktonic culture in EF. Biotransformation was enhanced by 7-fold with 10% inoculum. The temporal pattern of biofilm progression based on three-channel fluorescence detection by confocal laser scanning microscopy demonstrated well-developed, stable biofilm with greater colocalization of fluoranthene within extracellular polymeric substances and filaments of the biofilm grown on PMMA in contrast to a glass surface. A bioreactor with discs rotating at 2 revolutions per day affording 6-hourly emersion and immersion mimicked the niche intertidal habitat of C. elegans and supported biofilm formation and transformation of fluoranthene. The amount of transformed metabolite was 3.5-fold, biofilm growth was 3-fold, and cytochrome P450 gene expression was 1.9-fold higher in the process mimicking the intertidal conditions than in a submerged process without disc rotation. In the CCF and reactor, where biofilm formation was comparatively greater, higher concentration of exopolysaccharides allowed increased mobilization of fluoranthene within the biofilm with consequential higher gene expression leading to enhanced volumetric productivity. PMID:24038685

A Comprehensive Subcellular Proteomic Survey of Salmonella Grown under Phagosome-Mimicking versus Standard Laboratory Conditions

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

Brown, Roslyn N.; Sanford, James A.; Park, Jea H.

Towards developing a systems-level pathobiological understanding of Salmonella enterica, we performed a subcellular proteomic analysis of this pathogen grown under standard laboratory and infection-mimicking conditions in vitro. Analysis of proteins from cytoplasmic, inner membrane, periplasmic, and outer membrane fractions yielded coverage of over 30% of the theoretical proteome. Confident subcellular location could be assigned to over 1000 proteins, with good agreement between experimentally observed location and predicted/known protein properties. Comparison of protein location under the different environmental conditions provided insight into dynamic protein localization and possible moonlighting (multiple function) activities. Notable examples of dynamic localization were the response regulators ofmore » two-component regulatory systems (e.g., ArcB, PhoQ). The DNA-binding protein Dps that is generally regarded as cytoplasmic was significantly enriched in the outer membrane for all growth conditions examined, suggestive of moonlighting activities. These observations imply the existence of unknown transport mechanisms and novel functions for a subset of Salmonella proteins. Overall, this work provides a catalog of experimentally verified subcellular protein location for Salmonella and a framework for further investigations using computational modeling.« less

Primary scattered multifocal melanocytomas in spinal canal mimicking neurofibromatosis.

PubMed

Yang, Chenlong; Fang, Jingyi; Li, Guang; Yang, Jun; Xu, Yulun

2016-08-01

Meningeal melanocytoma is an extremely rare pigmented tumor derived from leptomeningeal melanocytes. By and large, it is considered to be a well-differentiated and slow-growing benign lesion. Generally, meningeal melanocytomas are solitary lesions, and the occurrence of the primary multifocal form in the central nervous system is exceedingly rare; it has been previously reported in only six cases. The present report illustrates a 41-year-old woman with primary multifocal meningeal melanocytoma in the spinal canal. Contrary to earlier reports, the tumors presented with a scattered appearance mimicking neurofibromatosis. This study is a case report and review of literature. On admission, the cerebral magnetic resonance images of the patient were normal, whereas the spinal magnetic resonance images showed scattered multifocal nodules mimicking neurofibromatosis. Surgical resection of the responsible lesions was scheduled. In addition to this case presentation, relevant previous reports were reviewed, and the challenging diagnosis, management, and prognosis of meningeal melanocytoma are discussed. Gross total resection of the two largest lesions was achieved, and histopathological examinations confirmed the diagnosis. Despite the benign histopathological findings, the patient had an aggressive clinical course. On follow-up at 18 months after surgery, she succumbed to the disease. Clinicians should be alert to a potential aggressive clinical course of meningeal melanocytoma, despite its benign histopathological nature. Of particular note is multifocality and diffuse leptomeningeal hyperpigmentation, which may suggest a poor prognosis. A combined treatment including surgical resection and adjuvant radiotherapy should be considered, and long-term close follow-up is necessary. Copyright © 2016. Published by Elsevier Inc.

Endometriosis after surgical menopause mimicking pelvic malignancy: surgeons' predicament.

PubMed

Bhat, Rani A; Teo, Melissa; Bhat, Akhil Krishnanand

2014-05-01

Prevalence of persistent endometriosis in women after menopause without any hormonal replacement therapy is very rare. This is a case of a woman with previous history of total hysterectomy and bilateral salpingo-oophorectomy for endometriosis who presented with hemoperitoneum, vaginal bleeding, pelvic mass, and pulmonary thromboembolism mimicking as rectovaginal septum carcinoma. This is the first case report with a unique mode of presentation wherein the patient presented with hemoperitoneum requiring emergency embolization of the vessel to stabilize the patient. She underwent en bloc resection of the tumor with high anterior resection of the rectum. Histopathology confirmed endometriosis.

Endometriosis After Surgical Menopause Mimicking Pelvic Malignancy: Surgeons’ Predicament

PubMed Central

Bhat, Rani A.; Teo, Melissa; Bhat, Akhil Krishnanand

2014-01-01

Prevalence of persistent endometriosis in women after menopause without any hormonal replacement therapy is very rare. This is a case of a woman with previous history of total hysterectomy and bilateral salpingo-oophorectomy for endometriosis who presented with hemoperitoneum, vaginal bleeding, pelvic mass, and pulmonary thromboembolism mimicking as rectovaginal septum carcinoma. This is the first case report with a unique mode of presentation wherein the patient presented with hemoperitoneum requiring emergency embolization of the vessel to stabilize the patient. She underwent en bloc resection of the tumor with high anterior resection of the rectum. Histopathology confirmed endometriosis. PMID:24936277

Primary adnexial hydatid cyst mimicking ovarian tumor

PubMed Central

Görgen, Hüsnü; Api, Murat; Çetin, Ahmet

2009-01-01

We report here the rare case of a 28-year-old woman with a large hydatid cyst in her left lower pelvis with an unusual sonographic presentation mimicking a multicystic ovarian tumor. Laparoscopic evaluation revealed normal uterus and ovaries with a swelling in the left retropritoneal area. We decided to reach this tumour by the vaginal route and multiple scolex, daughter cysts were removed via a left lateral vaginal wall incision. The pericystic cavity was thoroughly washed. The patient was discharged on the first postoperative day. Mebendazole (100 mg twice daily) was administered for 4 months. This parasite should be kept in mind and considered when making the differential diagnosis of pelvic cystic masses, particularly if the patient is from an endemic area. PMID:24591878

[A giant myxoid leiomyoma mimicking an inguinal hernia].

PubMed

Huszár, Orsolya; Zaránd, Attila; Szántó, Gyöngyi; Juhász, Viktória; Székely, Eszter; Novák, András; Molnár, Béla Ákos; Harsányi, László

2016-03-06

Leiomyoma is a rare, smooth muscle tumour that can occur everywhere in the human body. The authors present the history of a 60-year-old female, who had a giant, Mullerian type myxoid leiomyoma in the inguinal region mimicking acute abdominal symptoms. After examination the authors removed the soft tissue mass in the right femoral region reaching down in supine position to the middle third of the leg measuring 335 × 495 × 437 mm in greatest diameters in weight 33 kg. Reconstruction of the tissue defect was performed using oncoplastic guidelines. During the follow-up time no tumour recurrence was detected and the quality of life of the patient improved significantly.

Granulomatous mastitis caused by histoplasma and mimicking inflammatory breast carcinoma.

PubMed

Osborne, B M

1989-01-01

Two cases of a lobular, necrotizing granulomatous process causing a unilateral painful breast mass mimicking carcinoma are presented for comparison. While the morphologic appearance in each case was that of lobular granulomatous mastitis, the etiologic agent in one case appeared to be Histoplasma capsulatum, based on Grocott methenamine silver staining, and represents the second reported case of histoplasmosis involving only breast parenchyma. Awareness of the rare entity, granulomatous mastitis, is important for the pathologist because the definitive diagnosis is made microscopically. Thorough evaluation of the breast tissue is essential for its management and should eventually contribute to the clarification of its etiology.

Estimating rare events in biochemical systems using conditional sampling.

PubMed

Sundar, V S

2017-01-28

The paper focuses on development of variance reduction strategies to estimate rare events in biochemical systems. Obtaining this probability using brute force Monte Carlo simulations in conjunction with the stochastic simulation algorithm (Gillespie's method) is computationally prohibitive. To circumvent this, important sampling tools such as the weighted stochastic simulation algorithm and the doubly weighted stochastic simulation algorithm have been proposed. However, these strategies require an additional step of determining the important region to sample from, which is not straightforward for most of the problems. In this paper, we apply the subset simulation method, developed as a variance reduction tool in the context of structural engineering, to the problem of rare event estimation in biochemical systems. The main idea is that the rare event probability is expressed as a product of more frequent conditional probabilities. These conditional probabilities are estimated with high accuracy using Monte Carlo simulations, specifically the Markov chain Monte Carlo method with the modified Metropolis-Hastings algorithm. Generating sample realizations of the state vector using the stochastic simulation algorithm is viewed as mapping the discrete-state continuous-time random process to the standard normal random variable vector. This viewpoint opens up the possibility of applying more sophisticated and efficient sampling schemes developed elsewhere to problems in stochastic chemical kinetics. The results obtained using the subset simulation method are compared with existing variance reduction strategies for a few benchmark problems, and a satisfactory improvement in computational time is demonstrated.

Deep Invasive Fungal Infection of the Hand in a Child Mimicking a Local Gigantism.

PubMed

Chatterjee, Anirban; Chatterjee, Shamita

2018-04-01

Subcutaneous and deep fungal infections in the hand are rare among children. These are usually found in immunocompromised adults or in persons engaged in soil handling activities, due to direct exposure, especially in the tropics. Delay in diagnosis is usual because pyogenic and other granulomatous infections are considered first. The authors present the case of a healthy, immunocompetent 2½-year-old child who presented with progressive swelling of the right hand mimicking a localized gigantism of the entire hand. Multiple operative drainage procedures done previously had failed to resolve the condition. A biopsy established the presence of fungal hyphae, thus confirming the diagnosis of deep fungal infection of the hand and guided proper therapeutic intervention. A strong index of suspicion needs to be maintained in cases not responding to conventional antibacterial therapy, and both microbiologic and histopathologic samples need to be obtained to establish the diagnosis.

Primary pulmonary lymphoma mimicking a refractory lung abscess: A case report.

PubMed

Matsumoto, Takeshi; Otsuka, Kojiro; Funayama, Yuki; Imai, Yukihiro; Tomii, Keisuke

2015-04-01

The current study presents a case of primary pulmonary lymphoma (PPL) mimicking refractory lung abscess that was diagnosed at autopsy. An 80-year-old male with clinically inapparent aspiration presented with a large cavitated mass and pleural effusion. A lung abscess and empyema was diagnosed, therefore, antibiotics were administered and the pleural effusion was drained. Various examinations, including a biopsy, yielded no specific diagnosis. The lesion was considered inoperable due to the poor general condition of the patient. Subsequently, the mass that had been diagnosed as a refractory lung abscess became enlarged and a repeat biopsy resulted in a diagnosis of diffuse large B-cell lymphoma. The patient succumbed to sudden respiratory failure, and the final diagnosis of PPL was confirmed at autopsy. PPL is a rare disease that accounts for 0.45% of all pulmonary malignant tumors and is difficult to diagnose in inoperable cases. Therefore, patients with PPL who do not undergo surgery can be misdiagnosed and consequently treated inappropriately. PPL should therefore be considered in the differential diagnosis of a refractory lung abscess.

An unusual case of lumbar paravertebral miositis ossificans mimicking muscular skeletal tumor.

PubMed

Zoccali, C; Chichierchia, G; Covello, R

2013-12-01

Several lesions have clinical and radiological characteristics mimicking muscular skeletal tumor. Myositis ossificans usually presents a typical pattern making biopsy unnecessary; nevertheless, in rare cases, neoplasm must be ruled out. Biopsy is often sufficient to allow a diagnosis and a correct related treatment, but, unfortunately, sometimes it may lead to erroneous treatment. We report an unusual case of a lumbar paravertebral mass that had an MRI aspect similar to a chondrosarcoma, a histology pattern based on biopsy compatible with neurinoma and a definitive diagnosis of myosistis ossificans.

Electrocardiogram artifact caused by rigors mimicking narrow complex tachycardia: a case report.

PubMed

Matthias, Anne Thushara; Indrakumar, Jegarajah

2014-02-04

The electrocardiogram (ECG) is useful in the diagnosis of cardiac and non-cardiac conditions. Rigors due to shivering can cause electrocardiogram artifacts mimicking various cardiac rhythm abnormalities. We describe an 80-year-old Sri Lankan man with an abnormal electrocardiogram mimicking narrow complex tachycardia during the immediate post-operative period. Electrocardiogram changes caused by muscle tremor during rigors could mimic a narrow complex tachycardia. Identification of muscle tremor as a cause of electrocardiogram artifact can avoid unnecessary pharmacological and non-pharmacological intervention to prevent arrhythmias.

Rare Neural Correlations Implement Robotic Conditioning with Delayed Rewards and Disturbances

PubMed Central

Soltoggio, Andrea; Lemme, Andre; Reinhart, Felix; Steil, Jochen J.

2013-01-01

Neural conditioning associates cues and actions with following rewards. The environments in which robots operate, however, are pervaded by a variety of disturbing stimuli and uncertain timing. In particular, variable reward delays make it difficult to reconstruct which previous actions are responsible for following rewards. Such an uncertainty is handled by biological neural networks, but represents a challenge for computational models, suggesting the lack of a satisfactory theory for robotic neural conditioning. The present study demonstrates the use of rare neural correlations in making correct associations between rewards and previous cues or actions. Rare correlations are functional in selecting sparse synapses to be eligible for later weight updates if a reward occurs. The repetition of this process singles out the associating and reward-triggering pathways, and thereby copes with distal rewards. The neural network displays macro-level classical and operant conditioning, which is demonstrated in an interactive real-life human-robot interaction. The proposed mechanism models realistic conditioning in humans and animals and implements similar behaviors in neuro-robotic platforms. PMID:23565092

Nephropathic Cystinosis Mimicking Bartter Syndrome: a Novel Mutation.

PubMed

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

2018-01-01

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

Postpolypectomy Electrocoagulation Syndrome: A Mimicker of Colonic Perforation

PubMed Central

Benson, Brian C.; Myers, Jonathan J.; Laczek, Jeffrey T.

2013-01-01

Postpolypectomy electrocoagulation syndrome is a rare complication of polypectomy with electrocautery and is characterized by a transmural burn of the colon wall. Patients typically present within 12 hours after the procedure with symptoms mimicking colonic perforation. Presented is the case of a 56-year-old man who developed abdominal pain six hours after colonoscopy during which polypectomy was performed using snare cautery. CT imaging of the abdomen revealed circumferential thickening of the wall of the transverse colon without evidence of free air. The patient was treated conservatively as an outpatient and had resolution of his pain over the following four days. Recognition of the diagnosis and understanding of the treatment are important to avoid unnecessary exploratory laparotomy or hospitalization. PMID:23956889

Pneumatosis cystoides intestinalis associated with massive free air mimicking perforated diffuse peritonitis.

PubMed

Sakurai, Yoichi; Hikichi, Masahiro; Isogaki, Jun; Furuta, Shinpei; Sunagawa, Risaburo; Inaba, Kazuki; Komori, Yoshiyuki; Uyama, Ichiro

2008-11-21

While pneumatosis cystoides intestinalis (PCI) is a rare disease entity associated with a wide variety of gastrointestinal and non-gastrointestinal disorders, PCI associated with massive intra- and retroperitoneal free air is extremely uncommon, and is difficult to diagnose differentially from perforated peritonitis. We present two cases of PCI associated with massive peritoneal free air and/or retroperitoneal air that mimicked perforated peritonitis. These cases highlight the clinical importance of PCI that mimics perforated peritonitis, which requires emergency surgery. Preoperative imaging modalities and diagnostic laparoscopy are useful to make an accurate diagnosis.

Ileal inflammatory fibroid polyp causing chronic ileocolic intussusception and mimicking cecal carcinoma

PubMed Central

Gara, Naveen; Falzarano, John S; Limm, Whitney ML; Namiki, Thomas S; Tom, Laurie KS

2009-01-01

Inflammatory fibroid polyp (IFP) is a rare, idiopathic pseudotumorous lesion of the gastrointestinal tract. While mostly reported as solitary gastric lesions, multiple cases of small bowel IFPs are also reported. It is a documented cause of intussusception in adults. In the case reports of ileal inflammatory fibroid polyps with intussusception, an emergent presentation with small bowel obstruction has been most often described. Here we depict a case of ileal inflammatory fibroid polyp presenting with chronic intermittent ileocolic intussusception, anemia and weight loss with an endoscopic appearance mimicking necrotic cecal carcinoma. PMID:21160780

Mesenteric fibromatosis with intestinal involvement mimicking a gastrointestinal stromal tumour

PubMed Central

Wronski, Marek; Ziarkiewicz-Wroblewska, Bogna; Slodkowski, Maciej; Cebulski, Wlodzimierz; Gornicka, Barbara; Krasnodebski, Ireneusz W.

2011-01-01

Introduction Mesenteric fibromatosis or intra-abdominal desmoid tumour is a rare proliferative disease affecting the mesentery. It is a locally aggressive tumour that lacks metastatic potential, but the local recurrence is common. Mesenteric fibromatosis with the intestinal involvement can be easily confused with other primary gastrointestinal tumours, especially with that of the mesenchymal origin. Case report We report a case of a 44-year-old female who presented with an abdominal mass that radiologically and pathologically mimicked a gastrointestinal stromal tumour. Conclusions The diagnosis of mesenteric fibromatosis should always be considered in the case of mesenchymal tumours apparently originating from the bowel wall that diffusely infiltrate the mesentery. PMID:22933936

Chronic active Epstein-Barr virus infection mimicking Henoch-Schönlein purpura.

PubMed

Guissa, Vanessa R; Aragão, Paula A; Marques, Heloisa H; Jacob, Cristina M; Silva, Clovis A

2010-01-01

Chronic active Epstein-Barr virus (CAEBV) infection is characterized by chronic or recurrent symptoms for at least 3 months, such as fever, hepatosplenomegaly and lymphadenopathy. The diagnosis is established due to the presence of anti-EBV antibodies or isolation of this infectious agent in affected tissues. Three cases of CAEBV infection mimicking Henoch-Schönlein purpura (HSP) were described. CASE 1: Female 3-year old patient with cervical adenomegaly, anemia and fever developed palpable purpura, haematuria and arthritis. CAEBV infection was established by serology test. She received methylprednisolone and acyclovir. She had generalized lymphadenopathy, hepatomegaly, splenomegaly, disseminated intravascular coagulation and deceased. CASE 2: Male 12-year old patient with persistent anemia, lymphadenopathy, hepatomegaly and splenomegaly had CAEBV infection diagnosis by serology test. He developed purpura and arthritis and received methylprednisolone. CASE 3: Male 13-year old patient had purpura, abdominal pain, haematuria, hepatomegaly, splenomegaly, lymphadenopathy, anemia and elevated liver enzymes. The cervical lymph node biopsy was positive to EBV infection. He received methylprednisolone and acyclovir, developing acute fulminant hepatitis and death. CAEBV infection mimicking HSP was rarely observed in our population.

Bone tumor mimickers: A pictorial essay

PubMed Central

Mhuircheartaigh, Jennifer Ni; Lin, Yu-Ching; Wu, Jim S

2014-01-01

Focal lesions in bone are very common and many of these lesions are not bone tumors. These bone tumor mimickers can include numerous normal anatomic variants and non-neoplastic processes. Many of these tumor mimickers can be left alone, while others can be due to a significant disease process. It is important for the radiologist and clinician to be aware of these bone tumor mimickers and understand the characteristic features which allow discrimination between them and true neoplasms in order to avoid unnecessary additional workup. Knowing which lesions to leave alone or which ones require workup can prevent misdiagnosis and reduce patient anxiety. PMID:25114385

P-HPB-21: Isolated pancreatic tuberculosis mimicking inoperable pancreatic cancer

PubMed Central

Sahu, Manoj Kumar; Singh, Ayashkanta; Behera, Debasmita; Behera, Manas; Narayan, Jimmy

2017-01-01

Background: Pancreatic tuberculosis is an uncommon disease, presenting as hypoechoic mass on imaging mimicking malignancy. Consequently, it represents a diagnostic challenge necessitating a tissue diagnosis. Case Report: A 75-year-old female presented with progressive jaundice and weight loss; imaging with computed tomography (CT) showed a large (5.8 cm × 4.6 cm) pancreatic head mass with encasement of portal and superior mesenteric veins, peripancreatic nodes, atrophic pancreatic parenchyma, and dilated main pancreatic duct. Cancer antigen 19-9 was moderately elevated. With a diagnosis of inoperable pancreatic malignancy, she was planned for tissue diagnosis and palliative chemotherapy. Endoscopic ultrasonography (EUS) showed a heterogeneous mass with vascular invasion as in the CT. Fine needle aspiration (FNA) and biliary decompression with a plastic stent performed in the same sitting. Cytology demonstrated granuloma with caseous necrosis and presence of acid-fast bacilli. Antituberculosis treatment was started, and repeat CT after 6 months showed resolution of the mass. Discussion and Conclusion: A diagnosis of isolated pancreatic tuberculosis is rare and is difficult by clinical presentation alone; in India, it should be considered as a differential diagnosis of a pancreatic tumor. Benign lesions can also present with vascular invasions mimicking inoperable malignancy. EUS FNA is a very useful tool in accurate diagnosis of pancreatic head mass avoiding unnecessary surgeries.

[Primary central nervous system lymphoma mimicking ventriculitis].

PubMed

Yamamoto, Shiro; Nagano, Seiji; Shibata, Sumiya; Kunieda, Takeharu; Imai, Yukihiro; Kohara, Nobuo

2013-01-01

A 66-year-old man presented with deteriorated bradykinesia, gait disturbance, disorientation, and urinary incontinence for three weeks. Magnetic resonance imaging (MRI) showed dilatation of the ventricles. Cerebrospinal fluid (CSF) examination demonstrated lymphocytic pleocytosis, elevation of protein levels, and decreased of glucose levels. A gadolinium-enhanced MRI revealed lesions in the ventricular wall and choroid plexus, mimicking ventriculitis. No evidence of bacterial, fungal, mycobacterial, or viral infections were observed in the CSF. Flow cytometry of CSF showed predominance of CD20+, λ+ cells. PCR examination of CSF revealed positive IgH gene rearrangement, suggesting B cell lymphoma. Endoscopic brain biopsy showed diffuse large B cell lymphoma. As the patient had no evidence of lymphoma in the other organs, we made a diagnosed of primary central nervous system lymphoma (PCNSL). A limited intraventricular spread of PCNSL is rare but important as one of differential diagnosis of ventriculitis.

Peliosis hepatis and systemic lupus erythematosus: A rare condition identified by magnetic resonance imaging.

PubMed

Cordeiro, Rafael Alves; Hoff, Leonardo Santos; Garcia, Marcos Vinícius Fernandes; Leão Filho, Hilton Muniz; Borba, Eduardo Ferreira

2018-01-01

Peliosis hepatis is a rare benign disorder characterized by the presence of multiple cavities filled with blood with no preferential localization in the liver parenchyma. It may be related to several etiologic conditions, especially infections and toxicity of immunosuppressive drugs. To our knowledge, there are only three articles reporting the association between peliosis hepatis and systemic lupus erythematosus. In this report, we describe a case of this rare condition, highlighting the importance of magnetic resonance imaging. A short review of this subject is also presented.

Subarachnoid Hemorrhage due to Spinal Cord Schwannoma Presenting Findings Mimicking Meningitis.

PubMed

Zhang, Hong-Mei; Zhang, Yin-Xi; Zhang, Qing; Song, Shui-Jiang; Liu, Zhi-Rong

2016-08-01

Subarachnoid hemorrhage (SAH) of spinal origin is uncommon in clinical practice, and spinal schwannomas associated with SAH are even more rarely reported. We report an unusual case of spinal SAH mimicking meningitis with normal brain computed tomography (CT)/magnetic resonance imaging (MRI) and negative CT angiography. Cerebrospinal fluid examination results were consistent with the manifestation of SAH. Spinal MRI performed subsequently showed an intradural extramedullary mass. The patient received surgery and was finally diagnosed with spinal cord schwannoma. A retrospective chart review of the patient was performed. We describe a case of SAH due to spinal cord schwannoma. Our case highlights the importance of careful history taking and complete evaluation. We emphasize that spinal causes should always be ruled out in patients with angionegative SAH and that schwannoma should be considered in the differential diagnosis of SAH etiologies even though rare. Copyright © 2016 National Stroke Association. Published by Elsevier Inc. All rights reserved.

Conditionally Rare Taxa Disproportionately Contribute to Temporal Changes in Microbial Diversity

DOE PAGES

Shade, Ashley; Jones, Stuart E.; Caporaso, J. Gregory; ...

2014-07-15

Microbial communities typically contain many rare taxa that make up the majority of the observed membership, yet the contribution of this microbial “rare biosphere” to community dynamics is unclear. Using 16S rRNA amplicon sequencing of 3,237 samples from 42 time series of microbial communities from nine different ecosystems (air; marine; lake; stream; adult human skin, tongue, and gut; infant gut; and brewery wastewater treatment), we introduce a new method to detect typically rare microbial taxa that occasionally become very abundant (conditionally rare taxa [CRT]) and then quantify their contributions to temporal shifts in community structure. We discovered that CRT mademore » up 1.5 to 28% of the community membership, represented a broad diversity of bacterial and archaeal lineages, and explained large amounts of temporal community dissimilarity (i.e., up to 97% of Bray-Curtis dissimilarity). Most of the CRT were detected at multiple time points, though we also identified “one-hit wonder” CRT that were observed at only one time point. Using a case study from a temperate lake, we gained additional insights into the ecology of CRT by comparing routine community time series to large disturbance events. Our results reveal that many rare taxa contribute a greater amount to microbial community dynamics than is apparent from their low proportional abundances. In conclusion, this observation was true across a wide range of ecosystems, indicating that these rare taxa are essential for understanding community changes over time.« less

A pacemaker powered by an implantable biofuel cell operating under conditions mimicking the human blood circulatory system--battery not included.

PubMed

Southcott, Mark; MacVittie, Kevin; Halámek, Jan; Halámková, Lenka; Jemison, William D; Lobel, Robert; Katz, Evgeny

2013-05-07

Biocatalytic electrodes made of buckypaper were modified with PQQ-dependent glucose dehydrogenase on the anode and with laccase on the cathode and were assembled in a flow biofuel cell filled with serum solution mimicking the human blood circulatory system. The biofuel cell generated an open circuitry voltage, Voc, of ca. 470 mV and a short circuitry current, Isc, of ca. 5 mA (a current density of 0.83 mA cm(-2)). The power generated by the implantable biofuel cell was used to activate a pacemaker connected to the cell via a charge pump and a DC-DC converter interface circuit to adjust the voltage produced by the biofuel cell to the value required by the pacemaker. The voltage-current dependencies were analyzed for the biofuel cell connected to an Ohmic load and to the electronic loads composed of the interface circuit, or the power converter, and the pacemaker to study their operation. The correct pacemaker operation was confirmed using a medical device - an implantable loop recorder. Sustainable operation of the pacemaker was achieved with the system closely mimicking human physiological conditions using a single biofuel cell. This first demonstration of the pacemaker activated by the physiologically produced electrical energy shows promise for future electronic implantable medical devices powered by electricity harvested from the human body.

Tension pneumocephalus mimicking septic shock: a case report.

PubMed

Miranda, Caroline; Mahta, Ali; Wheeler, Lee Adam; Tsiouris, A John; Kamel, Hooman

2018-02-01

Tension pneumocephalus can lead to rapid neurologic deterioration. We report for the first time its association with aseptic systemic inflammatory response syndrome mimicking septic shock and the efficacy of prompt neurosurgical intervention and critical care support in treating this condition. A 64-year-old man underwent 2-stage olfactory groove meningioma resection. The patient developed altered mental status and gait instability on postoperative day 6. Imaging showed significant pneumocephalus. The patient subsequently developed worsening mental status, respiratory failure, and profound shock requiring multiple vasopressors. Bedside needle decompression, identification and repair of the cranial fossa defect, and critical care support led to improved mental status and reversal of shock and multiorgan dysfunction. Thorough evaluation revealed no evidence of an underlying infection. In this case, tension pneumocephalus incited an aseptic systemic inflammatory response syndrome mimicking septic shock. Prompt neurosurgical correction of pneumocephalus and critical care support not only improved neurologic status, but also reversed shock. Such a complication indicates the importance of close monitoring of patients with progressive pneumocephalus.

Melorheostosis mimicking synovial osteochondromatosis.

PubMed

Wadhwa, Vibhor; Chhabra, Avneesh; Samet, Jonathan D

2014-01-01

Melorheostosis is an uncommon, sporadic, sclerosing bone lesion that may affect the adjacent soft tissues. It has been associated with many entities such as osteopoikilosis, soft tissue vascular malformations, bone and soft tissue tumors, nephrotic syndrome, segmental limb contractures, osteosarcoma, desmoid tumor, and mesenteric fibromatosis. Synovial osteochondromatosis is a benign neoplasia of the hyaline cartilage presenting as nodules in the subsynovial tissue of a joint or tendon sheath. The intra-articular extension of melorheostosis mimicking synovial osteochondromatosis has not been reported before. In this article, the authors describe an unusual case mimicking synovial chondromatosis arising as a result of melorheostosis and their characteristic imaging findings.

Rare Forms of Castleman Disease Mimicking Malignancy: Mesenteric and Pancreatic Involvement.

PubMed

Ozsoy, Mustafa; Ozsoy, Zehra; Sahin, Suleyman; Arıkan, Yuksel

2018-03-12

Castleman disease is a lymphoproliferative disorder with unknown etiology and pathogenesis. While the disease may involve all parts of the body, the mediastinum appears to be the most common part of involvement. In this study, we present two cases of Castleman disease with different localizations that mimicked malignancy. A 62-year-old female patient presented with jaundice. Laboratory analysis indicated aspartate aminotransferase: 250 U/L, total bilirubin: 4 mg/dl, and carbohydrate antigen (CA) 19-9: 900 U/ml. Computerized tomography (CT) of the abdomen showed a mass originating from the pancreas head which resulted in a biliary tract obstruction. A positron emission tomography-computed tomography (PET/CT) showed that the only site of involvement was the pancreas head. A decision was made to perform pancreaticoduodenectomy. During intra-abdominal exploration, lymphadenopathies were identified in the surroundings of the retropancreatic portal vein and the hepatic artery. Histopathological investigation of the dissected lymph nodes demonstrated findings consistent with granulomatous plasma-cell-rich Castleman disease. A 55-year-old female patient presented with abdominal pain, nausea, and vomiting. Computerized tomography of the abdomen showed an abdominal mass of 7 cm, originating from the mesenterium, with high-contrast uptake in the mesenterium in the lower abdominal quadrant. The mesenteric mass was resected along with segmentary small intestine resection. Histopathological investigation of the mass showed a giant granulomatous structure that consisted of plasma cells consistent with Castleman disease. Castleman disease should be kept in mind during differential diagnosis of locally advanced lymph nodes observed during preoperative investigations and intraoperative exploration.

An Extracranial Metastasis of Glioblastoma Mimicking Mucoepidermoid Carcinoma.

PubMed

Jie, Wei-Ping; Bai, Jia-Ying; Li, Bin-Bin

2018-05-28

Glioblastoma (GBM) is the most common and aggressive primary malignant tumor of the brain and central nervous system. Extracranial metastases of GBM are very rare, with few case reports published to date. The tumor cells of GBM show strong immunopositivity for glial fibrillary acid protein (GFAP). A 47-year-old man without comorbidities presented with a 1-year history of an augmenting right parotid lump. A right total parotidectomy with selective neck dissection was performed. The hematoxylin-eosin stained slice of a parotid lymph node collected intraoperatively revealed destruction of normal lymph node structure by medium-sized pleomorphic cells scattered in groups; their cytoplasm was lightly stained and pale. There were abundant myxoid stroma in the interstitial tissue. This characteristic mimicked mucoepidermoid carcinoma (MEC). Immunohistochemistry test demonstrated that the cells were positive for GFAP. A diagnosis of extracranial metastasis of GBM was made after confirmation with postoperative pathological examination of the intracranial resection specimen. We believe that this is the first reported case of extracranial metastasis of GBM resembling MEC in the microscope features. Pathologists and clinicians should be alert to this rare lesion and consider this differential diagnosis after excluding other common parotid lesions. Copyright © 2018 Elsevier Inc. All rights reserved.

Oral desmoplastic melanoma mimicking inflammatory hyperplasia.

PubMed

Jou, Adriana; Miranda, Fábio V; Oliveira, Márcia G; Martins, Manoela D; Rados, Pantelis V; Filho, Manoel S

2012-06-01

Desmoplastic melanoma (DM) arising in the oral cavity is a rare neoplasm that may be confused with a variety of non-melanocytic benign or malignant lesions. To present a case of DM in the oral mucosa mimicking fibrous inflammatory hyperplasia, discusses the difficulties involved in the diagnosis and offers a literature review on the clinicopathologic and immunohistochemincal aspects of this neoplasm. A 62-year-old white male, smoker, was referred with a chief complaint of pain and swelling in the palate. The oral examination revealed multiple brown-to-black patches and a non-pigmented sessile nodule located on the mucosa of the hard palate. The clinical diagnosis of the pigmented lesions was either oral melanosis or melanoma. The nodular lesion was clinically diagnosed as fibrous inflammatory hyperplasia. Incisional biopsy was performed on the pigmented lesion and the microscopic sections revealed a melanotic macule. The nodular lesions histologically revealed an amelanotic desmoplastic melanoma. Reactive lesions close to a pigmented area should be investigated with great care. © 2010 The Gerodontology Society and John Wiley & Sons A/S.

Sites of superoxide and hydrogen peroxide production by muscle mitochondria assessed ex vivo under conditions mimicking rest and exercise.

PubMed

Goncalves, Renata L S; Quinlan, Casey L; Perevoshchikova, Irina V; Hey-Mogensen, Martin; Brand, Martin D

2015-01-02

The sites and rates of mitochondrial production of superoxide and H2O2 in vivo are not yet defined. At least 10 different mitochondrial sites can generate these species. Each site has a different maximum capacity (e.g. the outer quinol site in complex III (site IIIQo) has a very high capacity in rat skeletal muscle mitochondria, whereas the flavin site in complex I (site IF) has a very low capacity). The maximum capacities can greatly exceed the actual rates observed in the absence of electron transport chain inhibitors, so maximum capacities are a poor guide to actual rates. Here, we use new approaches to measure the rates at which different mitochondrial sites produce superoxide/H2O2 using isolated muscle mitochondria incubated in media mimicking the cytoplasmic substrate and effector mix of skeletal muscle during rest and exercise. We find that four or five sites dominate during rest in this ex vivo system. Remarkably, the quinol site in complex I (site IQ) and the flavin site in complex II (site IIF) each account for about a quarter of the total measured rate of H2O2 production. Site IF, site IIIQo, and perhaps site EF in the β-oxidation pathway account for most of the remainder. Under conditions mimicking mild and intense aerobic exercise, total production is much less, and the low capacity site IF dominates. These results give novel insights into which mitochondrial sites may produce superoxide/H2O2 in vivo. © 2015 by The American Society for Biochemistry and Molecular Biology, Inc.

Sites of Superoxide and Hydrogen Peroxide Production by Muscle Mitochondria Assessed ex Vivo under Conditions Mimicking Rest and Exercise*

PubMed Central

Goncalves, Renata L. S.; Quinlan, Casey L.; Perevoshchikova, Irina V.; Hey-Mogensen, Martin; Brand, Martin D.

2015-01-01

The sites and rates of mitochondrial production of superoxide and H2O2 in vivo are not yet defined. At least 10 different mitochondrial sites can generate these species. Each site has a different maximum capacity (e.g. the outer quinol site in complex III (site IIIQo) has a very high capacity in rat skeletal muscle mitochondria, whereas the flavin site in complex I (site IF) has a very low capacity). The maximum capacities can greatly exceed the actual rates observed in the absence of electron transport chain inhibitors, so maximum capacities are a poor guide to actual rates. Here, we use new approaches to measure the rates at which different mitochondrial sites produce superoxide/H2O2 using isolated muscle mitochondria incubated in media mimicking the cytoplasmic substrate and effector mix of skeletal muscle during rest and exercise. We find that four or five sites dominate during rest in this ex vivo system. Remarkably, the quinol site in complex I (site IQ) and the flavin site in complex II (site IIF) each account for about a quarter of the total measured rate of H2O2 production. Site IF, site IIIQo, and perhaps site EF in the β-oxidation pathway account for most of the remainder. Under conditions mimicking mild and intense aerobic exercise, total production is much less, and the low capacity site IF dominates. These results give novel insights into which mitochondrial sites may produce superoxide/H2O2 in vivo. PMID:25389297

A rare case of Weil's disease with alveolar haemorrhage.

PubMed

Chakrabarti, Abhiram; Nandy, Manab; Pal, Dipankar; Mallik, Sudesna

2014-05-01

Leptospirosis, a disease of protean manifestations occurs sporadically throughout the year with a peak seasonal incidence during the rainy season mimicking other febrile viral illness. In the rare case, the disease leads to renal and hepatic involvement with hemorrhage which may be associated with multisystem organ dysfunction in form of pulmonary, cardiac and central nervous system, when it is known as Weil's disease. Rarely haemorrhagic manifestations are assosciated. Early diagnosis is important as sometimes the disease may be life threatening. Proper antibiotics results in dramatic improvement. We hereby presented a case that had clinical features of Weil's disease with cough, dyspnoea and haemoptysis. Leptospirosis was detected on ELISA testing. Patient was cured rapidly with antibiotics.

A case of imported tungiasis in Scotland initially mimicking verrucae vulgaris.

PubMed

Wardhaugh, A D; Norris, J F

1994-10-01

A case is described of Tunga penetrans infection in the feet of a tourist returning from South America to Scotland. The condition had initially mimicked verrucae vulgaris, but microscopic examination of the lesions together with the travel history allowed the diagnosis of tungiasis to be made. This is the first case reported in Scotland.

Bronchoalveolar carcinoma (adenocarcinoma) mimicking recurrent bacterial community-acquired pneumonia (CAP).

PubMed

Cunha, Burke A; Syed, Uzma; Mikail, Nardeen

2012-01-01

Depending on the community-acquired pneumonia (CAP) pathogen, host factors, and immune status, CAPs resolve on chest x-rays at different rates. CAPs that resolve more slowly than expected, or not at all, are termed "slowly or non-resolving CAPs." In contrast, recurrent CAPs may be due to host defense defects (eg, multiple myelomas) or post-obstructive bronchogenic carcinomas. There are a variety of noninfectious disorders that may mimic CAPs on chest x-ray: alveolar hemorrhage, pulmonary drug reactions, radiation pneumonitis, Wegener's granulomatosis, bronchiolitis obliterans organizing pneumonia, bronchogenic carcinomas, and lymphomas. Noninfectious mimics of recurrent CAPs include congestive heart failure, pulmonary emboli, infarctions, sarcoidosis, and systemic lupus erythematosus pneumonitis. We present the case of a middle-aged man who presented with recurrent right middle lobe and right lower lobe CAPs. Diagnostic bronchoscopy showed no bronchial obstruction, but open lung biopsy showed bronchoalveolar carcinoma (well-differentiated adenocarcinoma). Bronchoalveolar carcinomas presenting as post-obstructive or recurrent CAPs are rare because the spread is along tissue planes and not endobronchially. The case described demonstrates a rare cause of bronchogenic carcinoma mimicking recurrent CAP. Copyright © 2012 Elsevier Inc. All rights reserved.

IgG4-related disease presenting with destructive sinonasal lesion mimicking malignancy.

PubMed

Chen, Bo-Nien

2016-11-01

IgG4-related disease is a newly recognized systemic fibroinflammatory disorder. We report a 36-year-old man who presented with intractable right nasal pain and frontal headache for 1 month. Computed tomography revealed an ill-defined lesion with bony erosion over the right anterior ethmoid sinus and middle turbinate. The lesion was resected through endoscopic anterior ethmoidectomy and middle turbinectomy. IgG4-related disease was definitively diagnosed according to histopathological features. Prednisolone was administered postoperatively. IgG4-related disease presenting with destructive sinonasal lesion mimicking malignancy is rare. Awareness is essential to avoid delayed diagnosis or unnecessary invasive intervention, because the disorder responds to glucocorticoid and immunosuppressant therapy.

Polyarteritis nodosa clinically mimicking nonocclusive mesenteric ischemia

PubMed Central

Shirai, Tsuyoshi; Fujii, Hiroshi; Saito, Shinichiro; Ishii, Tomonori; Yamaya, Hideyuki; Miyagi, Shigehito; Sekiguchi, Satoshi; Kawagishi, Naoki; Nose, Masato; Harigae, Hideo

2013-01-01

Here, we present the case of a 74-year-old Japanese man with segmental intestinal necrosis, which developed after treatment with pulsed methylprednisolone for mononeuritis multiplex. The patient was weakly positive for myeloperoxidase (MPO)-anti-neutrophil cytoplasmic antibody (ANCA). Computed tomography and surgical findings were compatible with nonocclusive mesenteric ischemia (NOMI). He underwent small intestinal resection by emergency surgery and an intestinal fistula was made. Pathologically, necrotizing vasculitis with fibrinoid necrosis was present in medium to small-sized arteries, which was equivalent to Arkin’s classification II-IV. Most of the arteries had fibrous intimal thickening, which was considered to obstruct the arteries and thus cause segmental intestinal necrosis. A diagnosis of polyarteritis nodosa (PAN) was made, and intravenous cyclophosphamide pulse therapy was added to the therapeutic regimen. This patient was successfully treated with these multidisciplinary therapies and his stoma was finally closed. This is a very rare and indicative case of PAN weakly positive for MPO-ANCA and clinically mimicking NOMI, which occurred even after treatment with pulsed methylprednisolone. PMID:23801874

Cavernous sinus tuberculoma mimicking a neoplasm: Case report, literature review, and diagnostic and treatment suggestions for tuberculomas in rare locations

PubMed Central

Jaimovich, Sebastián G.; Thea, Victor Castillo; Guevara, Martin; Gardella, Javier L.

2013-01-01

Background: Cavernous sinus tuberculomas are extremely rare, but the increasing incidence worldwide of central nervous system (CNS) tuberculosis, mostly due to human immunodeficiency virus and poor sanitary conditions, and the ability of tuberculomas to mimic a brain neoplasm makes cavernous sinus tuberculomas a suspicious pathologic finding in the differential diagnosis of a brain space-occupying lesion. Case Description: We present an immunocompetent patient with no signs of systemic tuberculosis and an isolated right cavernous sinus space-occupying lesion. A skull base approach was performed and tumor resection achieved. The postoperative course was uneventful. Pathologic findings consisted of a tuberculoma and antituberculous treatment was immediately begun with total tumor regression after a 12-month regimen. After reviewing the literature, we propose suggestions to orient the diagnosis and a treatment algorithm for tuberculomas in rare locations. Conclusion: Tuberculomas in rare locations, as the cavernous sinus, are a challenging pathology as they have the ability to mimic a brain neoplasm. Although first line treatment are antituberculous therapy (4 drugs for at least 12 months) and adjuvant steroids, in inconclusive cases, surgical biopsy or excision is recommended for histopathologic confirmation and to reduce the mass effect, always following with antituberculous therapy and adjuvant steroids. PMID:24381801

Adenoid basal cell carcinoma: a rare facet of basal cell carcinoma

PubMed Central

Saxena, Kartikay; Manohar, Vidya; Bhakhar, Vikas; Bahl, Sumit

2016-01-01

Basal cell carcinoma (BCC) is a common, locally invasive epithelial malignancy of skin and its appendages. Every year, close to 10 million people get diagnosed with BCC worldwide. While the histology of this lesion is mostly predictable, some of the rare histological variants such as cystic, adenoid, morpheaform, infundibulocystic, pigmented and miscellaneous variants (clear-cell, signet ring cell, granular, giant cell, adamantanoid, schwannoid) are even rarer, accounting for <10% of all BCC's. Adenoid BCC (ADBCC) is a very rare histopathological variant with reported incidence of only approximately 1.3%. The clinical appearance of this lesion can be a pigmented or non-pigmented nodule or ulcer without predilection for any particular site. We share a case report of ADBCC, a rare histological variant of BCC that showed interesting features not only histologically but also by clinically mimicking a benign lesion. PMID:27095806

Tissue mimicking materials for dental ultrasound

PubMed Central

Singh, Rahul S.; Culjat, Martin O.; Grundfest, Warren S.; Brown, Elliott R.; White, Shane N.

2008-01-01

While acoustic tissue mimicking materials have been explored for a variety of soft and hard biological tissues, no dental hard tissue mimicking materials have been characterized. Tooth phantoms are necessary to better understand acoustic phenomenology within the tooth environment and to accelerate the advancement of dental ultrasound imaging systems. In this study, soda lime glass and dental composite were explored as surrogates for human enamel and dentin, respectively, in terms of compressional velocity, attenuation, and acoustic impedance. The results suggest that a tooth phantom consisting of glass and composite can effectively mimic the acoustic behavior of a natural human tooth. PMID:18396919

Brief psychotic disorder mimicking the symptoms of cerebrovascular attack evoked by symptoms that symbolized death in a patient with terminal stage stomach cancer: case report and review of the literature.

PubMed

Onishi, Hideki; Okuno, Shigeko; Yae, Suzu; Sairenji, Motonori; Onose, Masanari; Mizuno, Yasuhiro; Kawanishi, Chiaki

2006-03-01

We report here a terminally ill patient with stomach cancer who developed a brief psychotic disorder mimicking cerebrovascular attack after a short episode of nasal bleeding. Close examination of the patient revealed that nasal bleeding was an event that symbolized deterioration of the general condition leading to death for the patient. A 77-year-old male, who was diagnosed as having stomach cancer and was receiving palliative care, presented with tremor and insomnia just after a short episode of nasal bleeding and showed reduced response to stimuli mimicking cerebrovascular attack. Laboratory data were unremarkable. The next day, catatonic behavior developed. He had no history of psychiatric illness or drug or alcohol abuse. After receiving haloperidol, psychiatric symptoms disappeared and he returned to the previous level of functioning within 3 days. The patient explained that he had seen a patient whose general condition deteriorated after nasal bleeding and regarded nasal bleeding as a symptom of deteriorating general condition leading to death and thereafter became afraid of the nasal bleeding. Although, nasal bleeding is common and usually not severe in medical settings, for the patient, it was an event that symbolized deterioration of the general condition leading to death. Brief psychotic disorder in cancer patients is rare in the literature, although patients receiving terminal care share various kinds of psychological burden. Medical staff in the palliative care unit should be aware of the psychological distress experienced by each patient and consider brief psychotic disorder as part of the differential diagnosis when patients show unexplained neurological-like and/or psychiatric symptoms.

Dense Deposit Disease Mimicking a Renal Small Vessel Vasculitis

PubMed Central

Singh, Lavleen; Bhardwaj, Swati; Sinha, Aditi; Bagga, Arvind; Dinda, Amit

2016-01-01

Dense deposit disease is caused by fluid-phase dysregulation of the alternative complement pathway and frequently deviates from the classic membranoproliferative pattern of injury on light microscopy. Other patterns of injury described for dense deposit disease include mesangioproliferative, acute proliferative/exudative, and crescentic GN. Regardless of the histologic pattern, C3 glomerulopathy, which includes dense deposit disease and C3 GN, is defined by immunofluorescence intensity of C3c two or more orders of magnitude greater than any other immune reactant (on a 0–3 scale). Ultrastructural appearances distinguish dense deposit disease and C3 GN. Focal and segmental necrotizing glomerular lesions with crescents, mimicking a small vessel vasculitis such as ANCA-associated GN, are a very rare manifestation of dense deposit disease. We describe our experience with this unusual histologic presentation and distinct clinical course of dense deposit disease, discuss the pitfalls in diagnosis, examine differential diagnoses, and review the relevant literature. PMID:26361799

Orbital compressed air and petroleum injury mimicking necrotizing fasciitis.

PubMed

Mellington, Faye E; Bacon, Annette S; Abu-Bakra, Mohammed A J; Martinez-Devesa, Pablo; Norris, Jonathan H

2014-09-01

Orbital injury secondary to petroleum-based products is rare. We report the first case, to our knowledge, of a combined compressed air and chemical orbital injury, which mimicked necrotizing fasciitis. A 58-year-old man was repairing his motorcycle engine when a piston inadvertently fired, discharging compressed air and petroleum-based carburetor cleaner into his left eye. He developed surgical emphysema, skin necrosis, and a chemical cellulitis, causing an orbital compartment syndrome. He was treated initially with antibiotics and subsequently with intravenous steroid and orbital decompression surgery. There was almost complete recovery by 4 weeks postsurgery. WHY SHOULD AN EMERGENCY PHYSICIAN BE AWARE OF THIS?: Petroleum-based products can cause severe skin irritation and necrosis. Compressed air injury can cause surgical emphysema. When these two mechanisms of injury are combined, the resulting orbitopathy and skin necrosis can mimic necrotizing fasciitis and cause diagnostic confusion. A favorable outcome is achievable with aggressive timely management. Copyright © 2014 Elsevier Inc. All rights reserved.

[A case of pulmonary malignant melanoma mimicking lung abscess].

PubMed

Mochizuki, Hideaki; Chikui, Emiko; Tokumaru, Aya; Kato, Takayuki; Arai, Tomio; Takahashi, Hideki

2011-06-01

An 84-year-old man was admitted with paresis of the right lower limb. Hemorrhagic lesions were demonstrated in the left frontoparietal lobe and cerebellum by cranial computed tomography (CT) and magnetic resonance imaging (MRI). Chest CT revealed an ill-defined mass measuring 4 x 6 cm in the left lower lobe of the lung, although bronchoscopic examination failed to obtain pathological diagnosis. Clinical diagnosis of primary lung cancer with multiple brain metastases was made, and he underwent whole brain radiotherapy. The pulmonary and cerebral lesions mimicked abscesses during his clinical course, and he died of respiratory failure due to bilateral pneumonia three months after admission. Autopsy revealed that both the pulmonary and brain lesions were malignant melanomas, but no other melanoma lesions could be identified despite meticulous investigation. Although malignant melanoma with an unknown primary site is rare in Japan, careful evaluation of the CT and MRI findings might be the key to correct diagnosis in this case.

Pathologic Aerophagia: A Rare but Important Medical Condition in People with Intellectual Disabilities

ERIC Educational Resources Information Center

Wong, Wendy; Sajith, Sreedharan Geetha

2017-01-01

Background: Pathologic aerophagia (PA) is characterised by excessive swallowing of air resulting in significant abdominal distension or belching. This is a relatively rare condition in general population but has been reported in up to 8.8% of institutionalised patients with intellectual disability. In severe cases, this can cause volvulus and…

Esophageal adenosquamous carcinoma mimicking acantholytic squamous cell carcinoma

PubMed Central

Matsukuma, Susumu; Takahashi, Oh; Utsumi, Yoshitaka; Tsuda, Masaki; Miyai, Kosuke; Okada, Kenji; Takeo, Hiroaki

2017-01-01

Herein is described a unique case of esophageal cancer mimicking acantholytic squamous cell carcinoma (SCC). The patient succumbed to the disease within one month of diagnosis. Autopsy revealed a 10-cm esophageal tumor, characterized by prominent acantholysis-like areas composed of discohesive cancer cells, along with nested growth of SCC. These discohesive cancer cells focally exhibited pagetoid extension into adjacent esophageal epithelium, comprised ~60% of the esophageal tumor volume and had widely metastasized to the lungs, chest wall, liver, spleen, right adrenal gland, bones and lymph nodes. No metastases of SCC were observed. SCC cells were immunohistochemically positive for keratin 5/6 and E-cadherin and were negative for mucin and carcinoembryonic antigen (CEA). However, the discohesive cancer cells exhibited negativity for keratin 5/6, positivity for mucin and CEA, and diminished or no immunostaining for E-cadherin. Thus, these discohesive cells represented true adenocarcinomatous differentiation rather than acantholytic SCC cells. It was concluded that this tumor was an esophageal adenosquamous carcinoma with ‘pseudo’-acantholytic adenocarcinoma components, which should be considered as a rare but distinctive type of aggressive cancer. PMID:29085501

Pseudocarcinomatous hyperplasia of the fallopian tube mimicking tubal cancer: a radiological and pathological diagnostic challenge.

PubMed

Lee, Nam Kyung; Choi, Kyung Un; Han, Ga Jin; Kwon, Byung Su; Song, Yong Jung; Suh, Dong Soo; Kim, Ki Hyung

2016-11-14

Pseudocarcinomatous hyperplasia of the fallopian tube is a rare, benign disease characterized by florid epithelial hyperplasia. The authors present the history and details of a 22-year-old woman with bilateral pelvic masses and a highly elevated serum CA-125 level (1,056 U/ml). Ultrasonography and magnetic resonance imaging (MRI) of the pelvis showed bilateral adnexal complex cystic masses with a fusiform or sausage-like shape. Contrast-enhanced fat-suppressed T1-weighted images showed enhancement of papillary projections of the right adnexal mass and enhancement of an irregular thick wall on the left adnexal mass, suggestive of tubal cancer. Based on MRI and laboratory findings, laparotomy was performed under a putative preoperative diagnosis of tubal cancer. The final pathologic diagnosis was pseudocarcinomatous hyperplasia of tubal epithelium associated with acute and chronic salpingitis in both tubes. The authors report a rare case of pseudocarcinomatous hyperplasia of the fallopian tubes mimicking tubal cancer.

Antibacterial Activity of Polyphenols: Structure-Activity Relationship and Influence of Hyperglycemic Condition.

PubMed

Xie, Yixi; Chen, Jing; Xiao, Aiping; Liu, Liangliang

2017-11-06

Polyphenols are plant-derived natural products with well-documented health benefits to human beings, such as antibacterial activities. However, the antibacterial activities of polyphenols under hyperglycemic conditions have been rarely studied, which could be relevant to their antibacterial efficacy in disease conditions, such as in diabetic patients. Herein, the antibacterial activities of 38 polyphenols under mimicked hyperglycemic conditions were evaluated. The structure-antibacterial activity relationships of polyphenols were also tested and analyzed. The presence of glucose apparently promoted the growth of the bacterial strains tested in this study. The OD600 values of tested bacteria strains increased from 1.09-fold to 1.49-fold by adding 800 mg/dL glucose. The polyphenols showed structurally dependent antibacterial activities, which were significantly impaired under the hyperglycemic conditions. The results from this study indicated that high blood glucose might promote bacterial infection, and the hyperglycemic conditions resulting from diabetes were likely to suppress the antibacterial benefits of polyphenols.

Ectopic Enterobius Vermicularis Infestation; An Extremely Rare Cause Of Mesenteric Lymphadenopathy Mimicking Tuberculous Lymphadenitis.

PubMed

Zafar, Summaiya; Tariq, Muhammad Usman; Ahmed, Zubair

2018-01-01

Enterobius vermicularis (EV) is a pinworm which commonly resides in the lumen of the intestinal tract and lays eggs on the perianal skin. However, rarely the worm can infest various other sites in the body and cases with infestation of such ectopic sites have been reported in literature. Rare cases of mesenteric lymph node involvement have also been reported. We report a case in a young male who presented with signs and symptoms of acute appendicitis. During surgery, enlarged mesenteric lymph nodes were identified. Histological examination revealed adult worm in the appendiceal lumen. Histological examination of mesenteric lymph node revealed degenerated worm surrounded by caseating chronic granulomatous inflammation. We conclude that EV infestation should be considered in the differential diagnosis of enlarged mesenteric lymph node with chronic granulomatous inflammation, especially in young patients and when accompanying bowel tissue also reveal the helminth.

Cordylobia rodhaini infestation of the breast: Report of a case mimicking a breast abscess.

PubMed

Grassi, Veronica; Butterworth, James William; Latiffi, Layloma

2016-01-01

Myiasis, parasitic infestation of the body by fly larvae, caused by the Cordylobia rodhaini is very rare with only fourteen cases published since 1970. We present a rare case of myiasis mimicking a breast abscess. A 17-year-old female presented with a nodular ulcerative lesion in her left breast 14days following a trip to Ghana. She had been initially unsuccessfully treated with the antibiotic flucloxacillin following a misdiagnosis of a breast abscess. Following application of Vaseline to the breast wound, covering the wound for 2h and gentle manipulation the larvae was removed successfully and the patient made a good recovery. Presenting as an inflammatory papule with central opening oozing serosanguinous fluid myiasis secondary to C. rodhaini can easily be mistaken for a breast abscess, often avoiding detection by unsuspecting surgeons on initial assessment. In turn ineffective antibiotic treatment is often prescribed leading to further disease progression and associated morbidity. Myiasis secondary to C. rodhaini is a rare but important differential surgeons should consider in women presenting with an inflammatory breast lesion with a recent history of foreign travel to ensure timely diagnosis and treatment. Ultrasound imaging can be useful in confirming diagnosis and avoiding treatment delays. Copyright © 2016 The Authors. Published by Elsevier Ltd.. All rights reserved.

Antimicrobial Peptide Mimicking Primary Amine and Guanidine Containing Methacrylamide Copolymers Prepared by Raft Polymerization

PubMed Central

Exley, Sarah E.; Paslay, Lea C.; Sahukhal, Gyan S.; Abel, Brooks A.; Brown, Tyler D.; McCormick, Charles L.; Heinhorst, Sabine; Koul, Veena; Choudhary, Veena; Elasri, Mohamed O.; Morgan, Sarah E.

2016-01-01

Naturally occurring antimicrobial peptides (AMPs) display the ability to eliminate a wide variety of bacteria, without toxicity to the host eukaryotic cells. Synthetic polymers containing moieties mimicking lysine and arginine components found in AMPs have been reported to show effectiveness against specific bacteria, with the mechanism of activity purported to depend on the nature of the amino acid mimic. In an attempt to incorporate the antimicrobial activity of both amino acids into a single water-soluble copolymer, a series of copolymers containing lysine mimicking aminopropyl methacrylamide (APMA) and arginine mimicking guanadinopropyl methacrylamide (GPMA) were prepared via aqueous RAFT polymerization. Copolymers were prepared with varying ratios of the comonomers, with degree of polymerization of 35–40 and narrow molecular weight distribution to simulate naturally occurring AMPs. Antimicrobial activity was determined against Gram-negative and Gram-positive bacteria under conditions with varying salt concentration. Toxicity to mammalian cells was assessed by hemolysis of red blood cells and MTT assays of MCF-7 cells. Antimicrobial activity was observed for APMA homopolymer and copolymers with low concentrations of GPMA against all bacteria tested, with low toxicity toward mammalian cells. PMID:26558609

Don’t get caught out! A rare case of a calcified urachal remnant mimicking a bladder calculus

PubMed Central

Rodrigues, Jonathan Carl Luis; Gandhi, Sanjay

2013-01-01

Computer tomography through the kidneys, ureters and bladder (CT KUB) is the mainstay investigation of suspected renal tract calculi. However, several pathologies other than renal tract calculi can cause apparent urinary bladder calcification. We describe the case of a 45 year old man who presented with left sided renal colic. Prone CT KUB performed on admission revealed a calcified urachal remnant mimicking a urinary bladder calculus in the dependent portion of the urinary bladder, confirmed by reviewing the multi-planar reformatted images. This is the first reported case in the literature of this phenomenon. We discuss the importance of using multi-planar reformatted images (MPR) and maximum intensity projection images (MIP), as well as careful review of previous imaging, in making the correct diagnosis. We also discuss the differential diagnoses that should be considered when presented with urinary bladder calcification. PMID:23705044

Internet Use by Parents of Children With Rare Conditions: Findings From a Study on Parents’ Web Information Needs

PubMed Central

Nicholl, Honor; Tracey, Catherine; Begley, Thelma; King, Carole

2017-01-01

Background Parents of children with rare conditions increasingly use the Internet to source information on their child’s condition. This study reports on part of a larger study whose overall aim was to identify the Internet use by parents when seeking information on their child’s rare condition, with the specific purpose of using the findings to aid in the development of a website specifically designed to meet the parents’ needs. It presents findings on why these parents use the Internet, the information and support content they source, and the impact these resources have on their capacity to care for and manage their child’s condition. Objective To (1) ascertain parents’ general Internet usage patterns, (2) identify the nature of the information parents most frequently searched for, and (3) determine the effect the Internet-sourced information had on parents of children with rare conditions. Methods Data collection was conducted in 2 parts: Part 1 was a focus group interview (n=8) to inform the development of the questionnaire, and Part 2 was a questionnaire (Web- and paper-based). All respondents (N=128) completed the questionnaire using the Internet. Results Parents frequently and habitually used the Internet and social media to gather information on their child’s condition. These Web-based resources provide parents with a parent-to-parent support platform that allows them to share their experiences and information with other parents, which, the respondents considered, improved their knowledge and understanding of their child’s condition. The respondents also reported that these resources positively impacted on their decision making, care, and management of their child’s condition. However, they reported receiving mixed responses when wishing to engage and share with health care professionals their Internet and social media interactions and information outcomes. Conclusions This study adds to the emerging body of research on the Internet use by

Tuberculous temporal brain abscess mimicking otogenic pyogenic abscess.

PubMed

Muzumdar, D; Balasubramaniam, S; Melkundi, S

2009-01-01

Tuberculous brain abscess is a rare manifestation of central nervous system tuberculosis. We report the case of a tuberculous temporal lobe abscess in a 14-year-old female child that mimicked an otogenic pyogenic brain abscess. The patient had no prior history of tuberculosis. She had chronic otitis media and presented with signs of raised intracranial tension. Radiological imaging was suggestive of an acute pyogenic left temporal lobe abscess. A left temporal craniotomy was performed and the abscess was completely excised. Histological examination was consistent with a chronic abscess, and bacterial cultures were negative. A left radical mastoidectomy was also carried out. However, she presented with repeated abscess formation at the same site over the next 8 weeks, which was refractory to surgical therapy and broad-spectrum antibiotic administration. Furthermore, the purulent exudate showed strong positivity in the PCR test for tubercular bacilli. After administration of antituberculous treatment, she showed gradual clinical and radiological improvement. At follow-up after 2 years, she is asymptomatic. CT imaging at 2 years showed total resolution of abscess. Tuberculous abscess in the temporal lobe following otogenic infection has not been reported in the pediatric population. Although rare, the possibility of tuberculous etiology should be borne in mind as a differential diagnosis of acute abscess of otogenic origin, especially in endemic areas where the incidence of chronic otitis media as well as tuberculosis is high. The pathogenesis and treatment of tuberculous brain abscess in children is reviewed in light of the current literature on the subject. Copyright 2009 S. Karger AG, Basel.

Heparin-Mimicking Polymers: Synthesis and Biological Applications

PubMed Central

2016-01-01

Heparin is a naturally occurring, highly sulfated polysaccharide that plays a critical role in a range of different biological processes. Therapeutically, it is mostly commonly used as an injectable solution as an anticoagulant for a variety of indications, although it has also been employed in other forms such as coatings on various biomedical devices. Due to the diverse functions of this polysaccharide in the body, including anticoagulation, tissue regeneration, anti-inflammation, and protein stabilization, and drawbacks of its use, analogous heparin-mimicking materials are also widely studied for therapeutic applications. This review focuses on one type of these materials, namely, synthetic heparin-mimicking polymers. Utilization of these polymers provides significant benefits compared to heparin, including enhancing therapeutic efficacy and reducing side effects as a result of fine-tuning heparin-binding motifs and other molecular characteristics. The major types of the various polymers are summarized, as well as their applications. Because development of a broader range of heparin-mimicking materials would further expand the impact of these polymers in the treatment of various diseases, future directions are also discussed. PMID:27739666

Heparin-Mimicking Polymers: Synthesis and Biological Applications.

PubMed

Paluck, Samantha J; Nguyen, Thi H; Maynard, Heather D

2016-11-14

Heparin is a naturally occurring, highly sulfated polysaccharide that plays a critical role in a range of different biological processes. Therapeutically, it is mostly commonly used as an injectable solution as an anticoagulant for a variety of indications, although it has also been employed in other forms such as coatings on various biomedical devices. Due to the diverse functions of this polysaccharide in the body, including anticoagulation, tissue regeneration, anti-inflammation, and protein stabilization, and drawbacks of its use, analogous heparin-mimicking materials are also widely studied for therapeutic applications. This review focuses on one type of these materials, namely, synthetic heparin-mimicking polymers. Utilization of these polymers provides significant benefits compared to heparin, including enhancing therapeutic efficacy and reducing side effects as a result of fine-tuning heparin-binding motifs and other molecular characteristics. The major types of the various polymers are summarized, as well as their applications. Because development of a broader range of heparin-mimicking materials would further expand the impact of these polymers in the treatment of various diseases, future directions are also discussed.

26 CFR 1.28-0 - Credit for clinical testing expenses for certain drugs for rare diseases or conditions; table of...

Code of Federal Regulations, 2011 CFR

2011-04-01

... drugs for rare diseases or conditions; table of contents. 1.28-0 Section 1.28-0 Internal Revenue... Taxable Year § 1.28-0 Credit for clinical testing expenses for certain drugs for rare diseases or... 505(i). (d) Definition and special rules. (1) Definition of “rare disease or condition”. (i) In...

26 CFR 1.28-0 - Credit for clinical testing expenses for certain drugs for rare diseases or conditions; table of...

Code of Federal Regulations, 2010 CFR

2010-04-01

... drugs for rare diseases or conditions; table of contents. 1.28-0 Section 1.28-0 Internal Revenue... Taxable Year § 1.28-0 Credit for clinical testing expenses for certain drugs for rare diseases or... 505(i). (d) Definition and special rules. (1) Definition of “rare disease or condition”. (i) In...

26 CFR 1.28-0 - Credit for clinical testing expenses for certain drugs for rare diseases or conditions; table of...

Code of Federal Regulations, 2013 CFR

2013-04-01

... drugs for rare diseases or conditions; table of contents. 1.28-0 Section 1.28-0 Internal Revenue... Taxable Year § 1.28-0 Credit for clinical testing expenses for certain drugs for rare diseases or... 505(i). (d) Definition and special rules. (1) Definition of “rare disease or condition”. (i) In...

26 CFR 1.28-0 - Credit for clinical testing expenses for certain drugs for rare diseases or conditions; table of...

Code of Federal Regulations, 2012 CFR

2012-04-01

... drugs for rare diseases or conditions; table of contents. 1.28-0 Section 1.28-0 Internal Revenue... Taxable Year § 1.28-0 Credit for clinical testing expenses for certain drugs for rare diseases or... 505(i). (d) Definition and special rules. (1) Definition of “rare disease or condition”. (i) In...

26 CFR 1.28-0 - Credit for clinical testing expenses for certain drugs for rare diseases or conditions; table of...

Code of Federal Regulations, 2014 CFR

2014-04-01

... drugs for rare diseases or conditions; table of contents. 1.28-0 Section 1.28-0 Internal Revenue... Taxable Year § 1.28-0 Credit for clinical testing expenses for certain drugs for rare diseases or... 505(i). (d) Definition and special rules. (1) Definition of “rare disease or condition”. (i) In...

Bone marrow necrosis secondary to imatinib usage, mimicking spinal metastasis on magnetic resonance imaging and FDG-PET/CT.

PubMed

Aras, Yavuz; Akcakaya, Mehmet Osman; Unal, Seher N; Bilgic, Bilge; Unal, Omer Faruk

2012-01-01

Imatinib mesylate has become the treatment of choice for gastrointestinal stromal tumors (GISTs) and has made a revolutionary impact on survival rates. Bone marrow necrosis is a very rare adverse event in malignant GIST. Bone metastases are also rarely encountered in the setting of this disease. The authors report on a patient with malignant GIST who developed a bone lesion, mimicking spinal metastasis on both MR imaging and FDG-PET/CT. Corpectomy and anterior fusion was performed, but the pathology report was consistent with bone marrow necrosis. Radiological and clinical similarities made the distinction between metastasis and bone marrow necrosis challenging for the treating physicians. Instead of radical surgical excision, more conservative methods such as percutaneous or endoscopic bone biopsies may be more useful for pathological confirmation, even though investigations such as MR imaging and FDG-PET/CT indicate metastatic disease.

Primary thyroid tuberculosis: a rare etiology of hypothyroidism and anterior cervical mass mimicking carcinoma.

PubMed

Silva, Bradley Paulino da; Amorim, Erico Gurgel; Pavin, Elizabeth João; Martins, Antonio Santos; Matos, Patrícia Sabino de; Zantut-Wittmann, Denise Engelbrecht

2009-06-01

The involvement of the thyroid by tuberculosis (TB) is rare. Hypothyroidism caused by tissue destruction is an extremely rare report. Our aim was to report a patient with primary thyroid TB emphasizing the importance of diagnosis, despite the rarity of the occurrence. Women, 62 years old, showing extensive cervical mass since four months, referring lack of appetite, weight loss, dysphagia and dysphonia. Laboratorial investigation revealed primary hypothyroidism. Cervical ultrasound: expansive lesion in left thyroid lobe, involving adjacent muscle. Computed tomography scan: 13 cm diameter cervical mass with central necrosis. Fine needle biopsy: hemorrhagic material. total thyroidectomy, left radical neck dissection and protective tracheotomy. The pathological examination showed chronic granulomatous inflammatory process with areas of caseous necrosis and lymph node involvement. The thyroid baciloscopy was positive. Pulmonary disease was absent. The patient was treated with antituberculosis drugs. Thyroid TB is not frequent, and should be considered as differential diagnosis of hypothyroidism and anterior cervical mass.

A case of positive 68Ga-DOTATOC-PET/CT pancreatic heterotopia mimicking an intestinal neuroendocrine tumor.

PubMed

Zilli, Alessandra; Fanetti, Ilaria; Conte, Dario; Massironi, Sara

Gallium-68 DOTA-peptide positron emission tomography/computed tomography ( 68 Ga-PET/CT) has emerged as a promising tool for the diagnosis and staging of gastro-entero-pancreatic neoplasms, thanks to its high sensitivity and specificity. Heterotopic pancreas, which is relatively rare, has never been reported as a possible cause of false positives of 68 Ga-PET/CT. We report on the first case of a heterotopic pancreas showing pathological uptake at 68 Ga-PET/CT, thus mimicking an intestinal neuroendocrine tumor. The present case suggests that heterotopic pancreas should be included among the possible causes of false positives at 68 Ga PET. Copyright © 2018 Elsevier Inc. All rights reserved.

Clear cell carcinoma of the ovary mimicking struma ovarii and carcinoid tumor.

PubMed

Alduaij, Ahmad; Quddus, M Ruhul

2011-04-01

Clear cell carcinomas are considered as high-grade tumor often with poor prognosis. We describe 2 cases of clear cell carcinomas of the ovary mimicking benign or less aggressive tumors encountered in the female genital track. The first case is mimicking a benign monodermal teratoma, the so-called struma ovarii, and the second mimicking a carcinoid tumor. Copyright © 2011 Elsevier Inc. All rights reserved.

Rare angioproliferative tumors mimicking aggressive spinal hemangioma with epidural expansion.

PubMed

Kulcsár, Zsolt; Veres, Róbert; Hanzély, Zoltán; Berentei, Zsolt; Marosfoi, Miklós; Nyáry, István; Szikora, István

2012-01-30

We present two cases of angio-proliferative tumors that were misdiagnosed and treated as typical hemangiomas with epidural expansion. Two middle-aged women presented with symptoms and radiological signs characteristic for aggressive hemangioma with epidural expansion. In the first case preoperative embolization and decompressive surgery with open transpedicular vertebroplasty was performed. Within less than a year, epidural recurrence of the tumor prompted for radical excision and corpectomy. The diagnosis after the histological studies and the further clinical evolution was metastasizing leiomyomatosis. No further recurrence occured during the next 6 years. In the second case percutaneous vertebroplasty was performed and complicated by epidural polymethyl-methacrylcate (PMMA) leakage, requiring urgent decompressive surgery. Histological study of the lesion raised the possibility of myopericytoma. This was confirmed 16 months later when complete vertebrectomy was performed due to severe epidural propagation of the recurring tumor. No further recurrence occurred in next the two years. Rare angio-proliferative tumors, like benign metastasizing leiomyoma and myopericytoma radiologically may resemble aggressive vertebral hemangiomas of the spine. Unlike hemangiomas, such tumors require radical removal due to their likely recurrence. As imaging studies may not be able to completely exclude such pathologies, bone biopsy and thorough histopathological studies are warranted prior to the therapeutic decision.

Non-harmful insertion of data mimicking computer network attacks

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

Neil, Joshua Charles; Kent, Alexander; Hash, Jr, Curtis Lee

Non-harmful data mimicking computer network attacks may be inserted in a computer network. Anomalous real network connections may be generated between a plurality of computing systems in the network. Data mimicking an attack may also be generated. The generated data may be transmitted between the plurality of computing systems using the real network connections and measured to determine whether an attack is detected.

Polymerization of a divalent/tetravalent metal-storing atom-mimicking dendrimer.

PubMed

Albrecht, Ken; Hirabayashi, Yuki; Otake, Masaya; Mendori, Shin; Tobari, Yuta; Azuma, Yasuo; Majima, Yutaka; Yamamoto, Kimihisa

2016-12-01

The phenylazomethine dendrimer (DPA) has a layer-by-layer electron density gradient that is an analog of the Bohr atom (atom mimicry). In combination with electron pair mimicry, the polymerization of this atom-mimicking dendrimer was achieved. The valency of the mimicked atom was controlled by changing the chemical structure of the dendrimer. By mimicking a divalent atom, a one-dimensional (1D) polymer was obtained, and by using a planar tetravalent atom mimic, a 2D polymer was obtained. These poly(dendrimer) polymers could store Lewis acids (SnCl 2 ) in their unoccupied orbitals, thus indicating that these poly(dendrimer) polymers consist of a series of nanocontainers.

Internet Use by Parents of Children With Rare Conditions: Findings From a Study on Parents' Web Information Needs.

PubMed

Nicholl, Honor; Tracey, Catherine; Begley, Thelma; King, Carole; Lynch, Aileen M

2017-02-28

Parents of children with rare conditions increasingly use the Internet to source information on their child's condition. This study reports on part of a larger study whose overall aim was to identify the Internet use by parents when seeking information on their child's rare condition, with the specific purpose of using the findings to aid in the development of a website specifically designed to meet the parents' needs. It presents findings on why these parents use the Internet, the information and support content they source, and the impact these resources have on their capacity to care for and manage their child's condition. To (1) ascertain parents' general Internet usage patterns, (2) identify the nature of the information parents most frequently searched for, and (3) determine the effect the Internet-sourced information had on parents of children with rare conditions. Data collection was conducted in 2 parts: Part 1 was a focus group interview (n=8) to inform the development of the questionnaire, and Part 2 was a questionnaire (Web- and paper-based). All respondents (N=128) completed the questionnaire using the Internet. Parents frequently and habitually used the Internet and social media to gather information on their child's condition. These Web-based resources provide parents with a parent-to-parent support platform that allows them to share their experiences and information with other parents, which, the respondents considered, improved their knowledge and understanding of their child's condition. The respondents also reported that these resources positively impacted on their decision making, care, and management of their child's condition. However, they reported receiving mixed responses when wishing to engage and share with health care professionals their Internet and social media interactions and information outcomes. This study adds to the emerging body of research on the Internet use by parents of children with rare conditions to source information on

Role of Cone Beam Computed Tomography in Evaluation of Radicular Cyst mimicking Dentigerous Cyst in a 7-year-old Child: A Case Report and Literature Review.

PubMed

Mahesh, B S; P Shastry, Shilpa; S Murthy, Padmashree; Jyotsna, T R

2017-01-01

To report a rare case of large radicular cyst-associated deciduous tooth and to discuss the importance of cone beam computed tomography (CBCT) in diagnosing the condition. Radicular cyst is the most common cyst affecting the permanent teeth, but its occurrence in deciduous teeth is rare. Most of the radicular cysts are asymptomatic and are discovered accidentally when radiographs are taken. Conventional radiographs show two-dimensional images of three-dimensional objects. Cone beam computed tomography provides undistorted three-dimensional information of hard tissues and gives adequate spatial resolution. A 7-year-old child, with a complaint of swelling in the maxillary anterior region, was diagnosed with radicular cyst in relation to primary maxillary right central incisor based on CBCT and histopathological features. Early diagnosis and prompt treatment of radicular cyst in primary dentition is important to prevent damage to permanent tooth. Mahesh BS, Shastry SP, Murthy PS, Jyotsna TR. Role of Cone Beam Computed Tomography in Evaluation of Radicular Cyst mimicking Dentigerous Cyst in a 7-year-old Child: A Case Report and Literature Review. Int J Clin Pediatr Dent 2017;10(2):213-216.

Enzyme-mimicking polymer brush-functionalized surface for combating biomaterial-associated infections

NASA Astrophysics Data System (ADS)

Jiang, Rujian; Xin, Zhirong; Xu, Shiai; Shi, Hengchong; Yang, Huawei; Song, Lingjie; Yan, Shunjie; Luan, Shifang; Yin, Jinghua; Khan, Ather Farooq; Li, Yonggang

2017-11-01

Biomaterial-associated infections critically compromise the functionality and performance of the medical devices, and pose a serious threat to human healthcare. Recently, natural DNase enzyme has been recognized as a potent material to prevent bacterial adhesion and biofilm formation. However, the vulnerability of DNase dramatically limits its long-term performance in antibacterial applications. In this work, DNase-mimicking polymer brushes were constructed to mimic the DNA-cleavage activity as well as the macromolecular scaffold of the natural DNase. The bacteria repellent efficacy of DNase-mimicking polymer brush-functionalized surface was comparable to that of the DNase-functionalized surface. More importantly, due to their inherent stability, DNase-mimicking polymer brushes presented the much better performance in inhibiting bacterial biofilm development for prolonged periods of time, as compared to the natural DNase. The as-developed DNase-mimicking polymer brush-functionalized surface presents a promising approach to combat biomaterial-associated infections.

Not so Rare, Rare Diseases

ERIC Educational Resources Information Center

Waldman, H. Barry; Perlman, Steven P.; Munter, Beverly L.; Chaudhry, Ramiz A.

2008-01-01

A rare disease or condition is defined by federal legislation such that it: (1) affects less than 200,000 persons in the U.S.; or (2) affects more than 200,000 persons in the U.S. but for which there is no reasonable expectation that the cost of developing and making available in the U.S. a drug for such disease or condition will be recovered from…

Making (mis) sense of asymptomatic marked hypercalcemia in pregnancy.

PubMed

Maltese, Giuseppe; Izatt, Louise; McGowan, Barbara M; Hafeez, Kashif; Hubbard, Johnathan G; Carroll, Paul V

2017-10-01

We describe a rare case of homozygous inactivating calcium-sensing receptor mutation detected during pregnancy and mimicking primary hyperparathyroidism. In pregnancy, the differential diagnosis of hypercalcaemia requires a cautious approach as physiological changes in calcium homeostasis may mask rare genetic conditions.

An intradural cervical chordoma mimicking schwannoma

PubMed Central

Samadian, Mohammad; Shafizad, Misagh

2012-01-01

plasmacytomas. The incidence has been estimated to be 0.51 cases per million. The most common location is sacrococcygeal region followed by the clivus. These two locations account for approximately 90% of chordomas. Of the tumors that do not arise in the sacrum or clivus, half occur in the cervical region, with the remainder found in the lumbar or thoracic region, in descending order of frequency. Cervical spine chordomas account for 6% of all cases. Distal metastasis most often occurs in young patients, those with sacrococcygeal or vertebral tumors, and those with atypical histological features. These tumors usually spread to contiguous anatomical structures, but they may be found in distant sites (skin, musculoskeletal system, brain, and other internal organs). Seeding of the tumor has also been reported, and the likely mechanism seems to be tumor cell of contamination during the surgical procedures. The usual radiological findings in chordomas of spine are destructive or lytic lesions with occasional sclerotic changes. They tend to lie anterolateral, rather than dorsal towards the cord, and reportedly known to invade the dura. The midline location, destructive nature, soft tissue mass formation and calcification are the radiological hallmarks of chordomas. Computed Tomography (CT) scan is the best imaging modality to delineate areas of osteolytic, osteosclerotic, or mixed areas of bone destruction.Chordoma is usually known as a hypovascular tumor which grows in a lobulated manner. Septal enhancement which reflects a lobulated growth pattern is seen in both CT and MRI and even in gross examination. Other epidural tumors include neurinoma, neurofibroma, meningioma, neuroblastoma, hemangioma, lymphoma and metastases. Their differentiation from chordoma may be difficult due to the same enhancement pattern on CT and MRI. A dumbbell-shaped chordoma is a rare pathogenic condition. The dumbbell shape is a characteristic finding of neurinomas in spine but in spinal neurinomas

Focal necrosis mimicking breast cancer following coronary bypass grafting.

PubMed

Coufal, Oldřich; Ostřížek, Tomáš; Krsička, Petr; Lžičařová, Eva; Nenutil, Rudolf; Procházková, Monika; Bencsiková, Beatrix; Grell, Peter; Šefr, Roman

2017-05-30

Breast cancer can be diagnosed easily in most cases. However, occasionally, we are faced with some conditions that can mimic it. These may include inflammations, benign tumors, cysts, hematomas, or, more rarely, focal necrosis. This report presents a case of focal breast necrosis following myocardial revascularization with the left internal mammary artery, which is a very rare condition, with only few cases described in the literature. The necrosis becomes usually apparent a few days or weeks after the surgery and is often coincidental with the dehiscence of sternotomy with necrosis of wound edges. As it mostly affects the skin, it can be easily recognized. Also, our patient developed a dehisced sternotomy shortly after the surgery but there were no obvious objective changes on the breast. The condition was first dominated only by non-specific subjective symptom-pain. Later, a lump in the breast occurred, when the sternotomy had already healed. Moreover, an enlarged lymph node was palpable in the axilla. Because of non-typical symptoms, the condition was suggestive of breast cancer for a relatively long time. The patient had suffered from a very strong pain until she was treated by mastectomy with a good clinical result. Mammary necrosis following the coronary artery bypass is rare. In most cases, it manifests on the skin shortly after the surgery concurrently with dehisced sternotomy, so it can be easily diagnosed. However, in sporadic cases, the symptoms may occur later and may mimic breast cancer. Our objective is to raise awareness of this rare condition.

Survival, growth and toxicity of Microcystis aeruginosa PCC 7806 in experimental conditions mimicking some features of the human gastro-intestinal environment.

PubMed

Stefanelli, Mara; Vichi, Susanna; Stipa, Giuseppe; Funari, Enzo; Testai, Emanuela; Scardala, Simona; Manganelli, Maura

2014-05-25

Cyanotoxins (CTX) are widely produced by several cyanobacteria (CB), increasingly spreading in most water bodies and terrestrial habitats, and represent a risk for human health. CB are prokaryotes, and although mostly autotrophic, several examples of heterotrophy in symbiotic relationship with different organisms have been described. In addition to the known routes of exposure, it has been hypothesized that CB might 'colonize' human intestine with relevant implications for human health. Colonization is a complex process and requires specific features of the possible invaders. Still, a short-term persistence as living and toxin-producing organisms within the intestinal lumen of the host could represent an 'internal' source of exposure to CTX. In this work we ran microcosm experiments (4-18days), looking at Microcystis aeruginosa PCC7806 resistance and cyanotoxin-producing capabilities in darkness, 37°C, pH 2, and subsequent recovery in a rich medium, in darkness, 37°C, in the presence of enteric bacteria, mimicking few important features of the gastrointestinal environment. We measured cyanobacterial populations and growth, microcystin (MC) production and the presence of mcyB gene. M. aeruginosa could grow in the dark at 37°C up to 17days, and survive at pH 2 at a rate between 30% and 70%, depending on the age and toxicity of the starting culture. Cell lysis resulted in a substantial amounts of MC released, not degraded at gastric pH. Following the acidic passage, still in the dark at 37°C, M. aeruginosa restarted to grow within 24h for the next 3-4days, independently on the presence of intestinal bacteria, maintaining the MC cell quota and mcyB gene. Our results show new features of CB: a significant resistance of M. aeruginosa in conditions far from its optimal one, that is an environment mimicking some of the important characteristics of human gastrointestinal tract, suggesting the possibility of an internal source of exposure to CTX, with implications for

Well differentiated liposarcoma of spermatic cord: report of 3 rare cases

PubMed Central

Abolhasani, Maryam; Babashahi, Mashaallah; Shooshtarizadeh, Tina; Asgari, Mojgan; Shahrokh, Hossein; Shadpour, Pejman; Emami, Maryam

2014-01-01

Spermatic cord liposarcomas are very rare tumors. Patients usually present with painless growing scrotal swellings which are clinically misdiagnosed as hernia. The correct diagnosis is not common and usually they present as operative or histological surprises. To our knowledge, there are about 186 similar cases reported in the literature. Herein we report three cases of spermatic cord liposarcoma with clinical presentation of scrotal bulging, mimicking inguinal hernia in one case and resembling a testicular tumor in the other two cases. The patients were operated and all of them underwent radical orchiectomy and tumor resection. PMID:25250255

A comparison of interventional clinical trials in rare versus non-rare diseases: an analysis of ClinicalTrials.gov.

PubMed

Bell, Stuart A; Tudur Smith, Catrin

2014-11-26

To provide a comprehensive characterisation of rare disease clinical trials registered in ClinicalTrials.gov, and compare against characteristics of trials in non-rare diseases. Registry based study of ClinicalTrials.gov registration entries. The ClinicalTrials.gov registry comprised 133,128 studies registered to September 27, 2012. By annotating medical subject heading descriptors to condition terms we could identify rare and non-rare disease trials. A total of 24,088 Interventional trials registered after January 1, 2006, conducted in the United States, Canada and/or the European Union were categorised as rare or non-rare. Characteristics of the respective trials were extracted and summarised with comparative statistics calculated where appropriate. Characteristics of interventional trials reported in the database categorised by rare and non-rare conditions to allow comparison. Of the 24,088 trials categorised 2,759 (11.5%) were classified as rare disease trials and 21,329 (88.5%) related to non-rare conditions. Despite the limitations of the database we found that rare disease trials differed to non-rare disease trials across all characteristics that we examined. Rare disease trials enrolled fewer participants (median 29 vs. 62), were more likely to be single arm (63.0% vs. 29.6%), non-randomised (64.5% vs. 36.1%) and open label (78.7% vs. 52.2%). A higher proportion of rare disease trials were terminated early (13.7% vs. 6.3%) and proportionally fewer rare disease studies were actively pursuing, or waiting to commence, enrolment (15.9% vs. 38.5%). Rare disease interventional trials differ from those in non-rare conditions with notable differences in enrolment, design, blinding and randomisation. However, clinical trials should aim to implement the highest trial design standards possible, regardless of whether diseases are rare or not.

Low-grade appendiceal mucinous neoplasm mimicking an adnexal mass.

PubMed

Cristian, Daniel Alin; Grama, Florin Andrei; Becheanu, Gabriel; Pop, Anamaria; Popa, Ileana; Şurlin, Valeriu; Stănilescu, Sorin; Bratu, Ana Magdalena; Burcoş, Traean

2015-01-01

We present a rare case of malignant epithelial neoplasm of the appendix, an uncommon disorder encountered in clinical practice, which poses a variety of diagnostic and therapeutic challenges. We report a particular case in which the appendix was abnormally located in the pelvis, mimicking an adnexal mass. Therefore, it was difficult to make the preoperative diagnosis on clinical examination, imaging studies and laboratory tests and we discovered the lesion during the diagnostic laparoscopy. No lymphadenopathy or mucinous ascites were found. The case was completely handled via the laparoscopic approach keeping the appendix intact during the operation. The frozen section, the detailed histopathology overview as well as multiple immunostaining with a complex panel of markers report diagnosed a low-grade appendiceal mucinous neoplasm (LAMN) with no invasion of the wall. No adjuvant therapy was considered needed. At a one-year follow-up oncological assessment, the patient was free of disease. In women with cystic mass in the right iliac fossa an appendiceal mucocele should be considered in the differential diagnosis. Laparoscopic appendectomy can represent an adequate operation for the appendiceal mucinous neoplasm if the histological report is clear and surgical precautionary measures are taken.

Chloroquine cardiotoxicity mimicking connective tissue disease heart involvement.

PubMed

Vereckei, András; Fazakas, Adám; Baló, Timea; Fekete, Béla; Molnár, Mária Judit; Karádi, István

2013-04-01

The authors report a case of rare chloroquine cardiotoxicity mimicking connective tissue disease heart involvement in a 56-year-old woman with mixed connective tissue disease (MCTD) manifested suddenly as third degree A-V block with QT(c) interval prolongation and short torsade de pointes runs ultimately degenerating into ventricular fibrillation. Immunological tests suggested an MCTD flare, implying that cardiac arrest had resulted from myocardial involvement by MCTD. However, QT(c) prolongation is not a characteristic of cardiomyopathy caused by connective tissue disease, unless anti-Ro/SSA positivity is present, but that was not the case. Therefore, looking for another cause of QT(c) prolongation the possibility of chloroquine cardiotoxicity emerged, which the patient had been receiving for almost two years in supramaximal doses. Biopsy of the deltoid muscle was performed, because in chloroquine toxicity, specific lesions are present both in the skeletal muscle and in the myocardium, and electron microscopy revealed the accumulation of cytoplasmic curvilinear bodies, which are specific to antimalarial-induced myocyte damage and are absent in all other muscle diseases, except neuronal ceroid lipofuscinosis. Thus, the diagnosis of chloroquine cardiotoxicity was established. It might be advisable to supplement the periodic ophthalmological examination, which is currently the only recommendation for patients on long-term chloroquine therapy, with ECG screening.

Mouse Models of Rare Craniofacial Disorders.

PubMed

Achilleos, Annita; Trainor, Paul A

2015-01-01

A rare disease is defined as a condition that affects less than 1 in 2000 individuals. Currently more than 7000 rare diseases have been documented, and most are thought to be of genetic origin. Rare diseases primarily affect children, and congenital craniofacial syndromes and disorders constitute a significant proportion of rare diseases, with over 700 having been described to date. Modeling craniofacial disorders in animal models has been instrumental in uncovering the etiology and pathogenesis of numerous conditions and in some cases has even led to potential therapeutic avenues for their prevention. In this chapter, we focus primarily on two general classes of rare disorders, ribosomopathies and ciliopathies, and the surprising finding that the disruption of fundamental, global processes can result in tissue-specific craniofacial defects. In addition, we discuss recent advances in understanding the pathogenesis of an extremely rare and specific craniofacial condition known as syngnathia, based on the first mouse models for this condition. Approximately 1% of all babies are born with a minor or major developmental anomaly, and individuals suffering from rare diseases deserve the same quality of treatment and care and attention to their disease as other patients. © 2015 Elsevier Inc. All rights reserved.

A relational understanding of sibling experiences of children with rare life-limiting conditions: findings from a qualitative study.

PubMed

Malcolm, Cari; Gibson, Faith; Adams, Sally; Anderson, Gillian; Forbat, Liz

2014-09-01

Mucopolysaccharidoses (MPS) and Batten disease are rare life-limiting conditions (LLCs) characterised by progressive and permanent physical and cognitive decline. The impact of such conditions on families, and notably on siblings, has not yet been described or documented. This paper presents data from a UK-wide study that sought to understand the family experience of supporting a child with the rare degenerative LLCs of MPS and Batten disease. The aim of this paper is to report sibling experiences related to these rare degenerative and progressive conditions, in order to inform the future development of supportive interventions. Eight siblings of children with MPS (n = 7) and Batten Disease (n = 1) participated in semi-structured qualitative interviews. A card sort technique was utilised to support and engage the children. Siblings are clearly impacted emotionally, pragmatically and relationally by the ill health of another child in the family. The data indicate four key themes which demonstrate impacts on siblings: perceptions of the condition and its symptoms, impact on daily life, emotional consequences and ways of coping. Siblings often had considerable knowledge of the condition and took on important roles in symptom management. However, these experiences were in the context of managing relationships within the family (often protecting parents from an awareness of how much they knew) and relationships at school (including distraction from learning and being bullied by peers). The data highlight how sibling experiences are generated through a combination of negative disability discourses and support through peers and family members. The data indicate how these features shift as a consequence of witnessing the advancement of their brother's or sister's condition and the emotional sequelae of disease progression. Exploration of siblings' experiences of living with such rare progressive and degenerative LLCs suggest the focus of interventions to support this

Suprarenal solitary fibrous tumor associated with a NF1 gene mutation mimicking a kidney neoplasm: implications for surgical management

PubMed Central

2014-01-01

Solitary fibrous tumor (SFT) is a rare spindle cell neoplasm, usually occurring in the pleura. Pararenal SFT, mimicking an adrenal gland or renal tumor, as here described, is extremely rare. We report a case of a right suprarenal SFT, incidentally discovered by abdominal ultrasound in a 54-year-old woman carrying a point neurofibromatosis 1 (NF1) gene mutation. Preoperative diagnostic work-up was ineffective in evaluating its origin, and an open radical right nephrectomy was therefore undertaken. Immunohistochemical assay showed a positivity for CD34, CD99 and Bcl-2, so suggesting a diagnosis of SFT. According to our knowledge, the association between this type of tumor and NF1 gene mutation has never been described. In cases of pararenal tumors, a more detailed preoperative diagnosis could be useful to better plan the extension of resection, allowing, in selected cases, nephron-sparing surgery. More studies are needed to better analyze the relationship between NF1 gene mutation and SFT. PMID:24708790

Posterior Epidural Migration of an Extruded Lumbar Disc Mimicking a Facet Cyst: A Case Report

PubMed Central

Yoo, Young Sun; Ju, Chang Il; Kim, Dong Min

2015-01-01

Dorsal extradural migration of extruded disc material is clinically uncommon. We report a rare case of posterior epidural migration of an extruded lumbar disc mimicking a facet cyst. A 32-year-old man was admitted to our institute with a 2-week history of severe low back pain and radiating pain in the left leg. The magnetic resonance (MR) images revealed a dorsally located, left-sided extradural cystic mass at the L2-3 level. The initial diagnosis was an epidural facet cyst because of the high signal intensity on MR images and its location adjacent to the facet joint. Intraoperatively, an encapsulated mass of soft tissue adherent to the dural sac was observed and excised. The pathological diagnosis was degenerated disc material. After surgery, the patient experienced complete relief from leg pain. PMID:25883662

Adrenal cortical oncocytoma mimicking pheochromocytoma.

PubMed

Kiriakopoulos, Andreas; Papaioannou, Dimitrios; Linos, Dimitrios

2011-01-01

Adrenal tumors present with clinical features and signs unique to their specific hormonal hypersecretion. However, there have been cases in which the clinical expression has been in conflict with the histologic features of the tumor. In this communication we report an unusual clinical presentation of an adrenal cortical tumor with histologic features of an oncocytoma that clinically mimicked a pheochromocytoma. A 49-year old man was referred to our Unit due to type B aortic dissection and a mass of the left adrenal gland. Computed tomography and magnetic resonance imaging confirmed the presence of aortic dissection extending from the left subclavian artery to both iliac arteries and also revealed a 6 cm tumor on the left adrenal gland. Preoperative endocrine evaluation showed a near tenfold increase of urinary vanillylmandelic acid (VMA) and metanephrine values. Transperitoneal laparoscopic adrenalectomy was successfully performed. The adrenal tumor proved to be an adrenal cortical neoplasm with histologic features of oncocytoma. Although the case of an adrenal cortical adenoma clinically mimicking a pheochromocytoma has been described in the literature, to the best of our knowledge, there has been no previous report of an adrenal cortical neoplasm with predominant features of oncocytoma.

Testing the Feasibility of a Passive and Active Case Ascertainment System for Multiple Rare Conditions Simultaneously: The Experience in Three US States

PubMed Central

McDermott, Suzanne; Ruttenber, Margaret; Mann, Joshua; Smith, Michael G; Royer, Julie; Valdez, Rodolfo

2016-01-01

Background Owing to their low prevalence, single rare conditions are difficult to monitor through current state passive and active case ascertainment systems. However, such monitoring is important because, as a group, rare conditions have great impact on the health of affected individuals and the well-being of their caregivers. A viable approach could be to conduct passive and active case ascertainment of several rare conditions simultaneously. This is a report about the feasibility of such an approach. Objective To test the feasibility of a case ascertainment system with passive and active components aimed at monitoring 3 rare conditions simultaneously in 3 states of the United States (Colorado, Kansas, and South Carolina). The 3 conditions are spina bifida, muscular dystrophy, and fragile X syndrome. Methods Teams from each state evaluated the possibility of using current or modified versions of their local passive and active case ascertainment systems and datasets to monitor the 3 conditions. Together, these teams established the case definitions and selected the variables and the abstraction tools for the active case ascertainment approach. After testing the ability of their local passive and active case ascertainment system to capture all 3 conditions, the next steps were to report the number of cases detected actively and passively for each condition, to list the local barriers against the combined passive and active case ascertainment system, and to describe the experiences in trying to overcome these barriers. Results During the test period, the team from South Carolina was able to collect data on all 3 conditions simultaneously for all ages. The Colorado team was also able to collect data on all 3 conditions but, because of age restrictions in its passive and active case ascertainment system, it was able to report few cases of fragile X syndrome. The team from Kansas was able to collect data only on spina bifida. For all states, the implementation of an

Rare-earth metal oxide doped transparent mesoporous silica plates under non-aqueous condition as a potential UV sensor.

PubMed

Lee, Sang-Joon; Park, Sung Soo; Lee, Sang Hyun; Hong, Sang-Hyun; Ha, Chang-Sik

2013-11-01

Transparent mesoporous silica plates doped with rare-earth metal oxide were prepared using solvent-evaporation method based on the self-organization between structure-directing agent and silicate in a non-aqueous solvent. A triblock copolymer, Pluronic (F127 or P123), was used as the structure-directing agent, while tetraethyl orthosilicate (TEOS) was used as a silica source. The pore diameter and the surface area of the mesoporous silica plate prepared with the optimized conditions were ca 40 A and 600 m2 g(-1), respectively, for both structure-directing agent. Rare-earth metal oxides (Eu, Tb, Tm oxide) in mesochannel were formed via one-step synthetic route based on the preparation method of a silica plate. Optical properties of rare-earth metal oxide-doped mesoporous silica plates were investigated by UV irradiation and photoluminescence (PL) spectroscopy. Under the exitation wavelength of 254 nm, the doped mesoporous silica plates emitted red, green and blue for Eu, Tb and Tm oxides, respectively. Rare-earth metal oxide-doped mesoporous silica plates showed enhanced PL intensity compared to that of the bulk rare-earth metal oxide.

Thirty Years of Orphan Drug Legislation and the Development of Drugs to Treat Rare Seizure Conditions: A Cross Sectional Analysis.

PubMed

Döring, Jan Henje; Lampert, Anette; Hoffmann, Georg F; Ries, Markus

2016-01-01

Epilepsy is a serious chronic health condition with a high morbidity impairing the life of patients and afflicted families. Many epileptic conditions, especially those affecting children, are rare disorders generating an urgent medical need for more efficacious therapy options. Therefore, we assessed the output of the US and European orphan drug legislations. Quantitative analysis of the FDA and EMA databases for orphan drug designations according to STrengthening the Reporting of OBservational studies in Epidemiology (STROBE) criteria. Within the US Orphan Drug Act 40 designations were granted delivering nine approvals, i.e. clobazam, diazepam viscous solution for rectal administration, felbamate, fosphenytoin, lamotrigine, repository corticotropin, rufinamide, topiramate, and vigabatrin. Since 2000 the EMA granted six orphan drug designations whereof two compounds were approved, i.e. rufinamide and stiripentol. In the US, two orphan drug designations were withdrawn. Orphan drugs were approved for conditions including Lennox-Gastaut syndrome, infantile spasms, Dravet syndrome, and status epilepticus. Comparing time to approval for rufinamide, which was approved in the US and the EU to treat rare seizure conditions, the process seems faster in the EU (2.2 years) than in the US (4.3 years). Orphan drug development in the US and in the EU delivered only few molecular entities to treat rare seizure disorders. The development programs focused on already approved antiepileptic drugs or alternative pharmaceutical formulations. Most orphan drugs approved in the US are not approved in the EU to treat rare seizures although some were introduced after 2000 when the EU adopted the Orphan Drug Regulation.

Evaluating and Valuing Drugs for Rare Conditions: No Easy Answers.

PubMed

Ollendorf, Daniel A; Chapman, Richard H; Pearson, Steven D

2018-05-01

We find ourselves in an era of unprecedented growth in the development and use of so-called "orphan" drugs to treat rare diseases, which are poised to represent more than one-fifth of pharmaceutical expenditures by 2022. This widespread use has been facilitated by legislative and regulatory incentives in both the United States and abroad, yet US payers and health systems have not yet made a concerted effort to understand whether and how rare diseases require special considerations on their part and how to adapt traditional methods of health technology assessment and economic evaluation to accommodate these situations. In this article, we explore the general ethical dilemmas that rare diseases present, steps taken by health technology assessment bodies worldwide to define the level of rarity that would necessitate special measures and the modifications to their assessment and valuation processes needed, and the contextual components for rare-disease evaluation that lie outside of the assessment framework as a guide to US decision makers on constructing a formal and relevant process stateside. Copyright © 2018 International Society for Pharmacoeconomics and Outcomes Research (ISPOR). Published by Elsevier Inc. All rights reserved.

A Case Report of Heel Pain Mimicking Plantar Fasciitis and Osteosarcoma: A Unique Presentation of a Nora's Lesion.

PubMed

Rushing, Calvin J; Rogers, Diana E; Spinner, Steven M; Gajzer, David C

Bizarre parosteal osteochondromatous proliferation, otherwise known as "Nora's lesion," is a rare benign neoplasm first described by Nora in 1983. The exact etiology of this neoplasm remains unknown, and its presentation in the lower extremity presents a diagnostic challenge, as both clinical and radiologic features cannot fully differentiate it from other neoplasms. We present the case of a 48-year-old female with plantar heel pain secondary to Nora's lesion mimicking plantar fasciitis and periosteal osteosarcoma. Following bone biopsy for histopathologic analysis, the patient's symptoms spontaneously resolved, and she returned to activity with complete resolution of symptoms 18 months post biopsy. Bizarre parosteal osteochondromatous proliferation as an etiology for plantar heel pain has not been previously described in the literature. Although rare, it should be considered in the differential diagnosis for patients presenting with plantar heel pain, especially after failed conservative treatment. Following diagnostic confirmation by histopathology, complete surgical excision is the treatment of choice. Copyright © 2017 American College of Foot and Ankle Surgeons. Published by Elsevier Inc. All rights reserved.

Crohn's disease-associated interstitial lung disease mimicking sarcoidosis: a case report and review of the literature.

PubMed

Thao, Choua; Lagstein, Amir; Allen, Tadashi; Dincer, Huseyin Erhan; Kim, Hyun Joo

2016-10-07

Respiratory involvement in Crohn's disease (CD) is a rare manifestation known to involve the large and small airways, lung parenchyma, and pleura. The clinical presentation is nonspecific, and diagnostic tests can mimic other pulmonary diseases, posing a diagnostic challenge and delay in treatment. We report a case of a 60-year-old female with a history of CD and psoriatic arthritis who presented with dyspnea, fever, and cough with abnormal radiological findings. Diagnostic testing revealed an elevated CD4:CD8 ratio in the bronchoalveolar lavage fluid, and cryoprobe lung biopsy results showed non-necrotizing granulomatous inflammation. We describe here the second reported case of pulmonary involvement mimicking sarcoidosis in Crohn's disease and a review of the literature on the approaches to making a diagnosis of CD-associated interstitial lung disease.

The Patient Educator Presentation in Dental Education: Reinforcing the Importance of Learning About Rare Conditions.

PubMed

Edwards, Paul C; Graham, Jasmine; Oling, Rebecca; Frantz, Kate E

2016-05-01

The aim of this study was to determine whether a patient educator presentation (PEP) on pemphigus vulgaris would increase second-year dental students' awareness of the importance of learning about rare conditions and improve their retention of rare disease knowledge. The study involved students' subjective assessments of a PEP experience at two U.S. dental schools. In this mixed methods study, cross-sectional data were obtained by surveys and in-depth interviews. Questions focused on students' assessment of the messages acquired from the PEP and its likely impact on their future clinical care. At University 1, students completed paper surveys with open-ended questions and participated in a focus group. At University 2, students completed an online survey consisting of rating scale and open-ended questions. Responses to open-ended questions were categorized into themes. At University 1, 79 students (out of a possible 102; response rate 77.5%) completed the survey, and an additional ten students participated in a focus group. At University 2, 30 students (out of a possible 104; response rate 28.8%) completed the survey. At Universities 1 and 2, 88% and 100%, respectively, of respondents stated the PEP would influence their future clinical decision making. The vast majority of respondents (94% and 100% at University 1 and University 2, respectively) were of the opinion that the personal testimonial from a patient would help them recall information about pemphigus vulgaris in five years' time. Respondents from both universities commented that the PEP emphasized the importance of not dismissing a patient's concerns. These results suggest that a presentation by a patient with a rare condition can be an effective educational tool for preclinical dental students.

Acute corneal hydrops mimicking full thickness perforation.

PubMed

Ch'ng, S W; Pillai, M B; Aazeem, S; Tu, K L

2012-05-11

A 26-year-old Caucasian female with keratoconus presented with an acutely painful and red left eye. Visual acuity on presentation was 3/60. Slit lamp examination revealed localised Descemet's membrane break with iris partially plugging it. There was a bulging stromal cyst which would intermittently flatten and reform. The appearance when the cyst was flattened mimicked a full thickness corneal perforation. However, no obvious overlying epithelial defect was detected and an intermittent leakage through micro-perforations in the corneal epithelium was the probable cause of the variable appearance. The anterior chamber reformed and iris plug freed following an insertion of a bandage contact lens and taped eyelid. On follow-up, the Descement's membrane had healed with visual acuity improving to 6/18. Our case illustrates the importance of identifying corneal hydrops mimicking a full thickness perforation as conservative management has a greater chance of recovery.

"We've Been through It All Together": Supports for Parents with Children with Rare Trisomy Conditions

ERIC Educational Resources Information Center

Bruns, D.; Foerster, K.

2011-01-01

Background: Parenting a child with a developmental disability can be a positive experience. A salient part of this outcome is support at the time of diagnosis and in an ongoing manner from immediate and extended family members. Studies are sparse on this topic for parents with a child with a rare trisomy condition. Method: The present study…

A case of pulmonary Serratia marcescens granuloma radiologically mimicking metastatic malignancy and tuberculosis infection.

PubMed

Das, Joyutpal; Layton, Benjamin; Lamb, Harriet; Sinnott, Nicola; Leahy, Bernard C

2015-11-01

Serratia marcescens is a saprophytic gram-negative bacillus capable of causing a wide range of infections. A 57-year-old female was admitted to our hospital for four weeks with community acquired pneumonia. A chest x-ray, six weeks after discharge, demonstrated multiple, bilateral 'cannon ball'-like opacities and mediastinal lymphadenopathy which were highly suspicious of disseminated malignancy or tuberculosis. The only symptom that this patient had was a productive cough. She had multiple commodities, but no specific immunodeficiency disorder. Interestingly, her sputum and bronchial washing samples grew S. marcescens. The computed tomography-guided lung biopsy demonstrated necrotic granulomatous changes. There was no pathological evidence of tuberculosis or fungal infection, malignancy or vasculitis. There are only a handful of reported cases of Serratia granulomas. Thus, we are reporting a rare instance of pulmonary Serratia marcescens granuloma radiologically mimicking metastatic malignancy and tuberculosis infection. © The Author(s) 2015.

Mesalamine treatment mimicking relapse in a child with ulcerative colitis.

PubMed

Hojsak, Iva; Pavić, Ana M; Kolaček, Sanja

2014-11-01

There are reports on mesalamine-induced bloody diarrhea mimicking ulcerative colitis (UC) relapse, mostly in adults. Herein we present a case of a child with UC who developed relapse of hemorrhagic colitis related to mesalamine. A 10-year-old girl developed severe symptoms mimicking UC relapse 3 weeks after introduction of mesalamine therapy. After mesalamine was withdrawn, her symptoms improved, but deteriorated again during the challenge of mesalamine despite concomitant use of corticosteroids. This is the first case report on such a young child during the concomitant use of corticosteroids.

Primary Ewing's Sarcoma of the Temporal Bone: A Rare Case Report and Literature Review.

PubMed

Gupta, Divya; Gulati, Achal; Purnima

2017-09-01

Ewing's sarcoma is a malignant, round cell tumor arising from the bones and primarily affecting children and adolescent, accounting for 3 % of all childhood malignancies. Although the long bones and the trunk are typically affected, rare cases of it involving isolated bones throughout the body have been reported. Involvement of the skull bones is rare, constituting 1-6 % of the total Ewing's sarcoma cases but those affecting the cranial bones are rarer still, constituting only 1 %. We describe an 8 months old infant having Ewing sarcoma, of the petrous and mastoid parts of temporal bone along with the occipital bone, whose clinical presentation mimicked mastoiditis with facial nerve palsy. We discuss the clinical and therapeutic course of an extensive primary Ewing sarcoma of the temporal bone, which was treated without performing surgery and review this entity's literature in detail.

Spontaneous ovarian hyperstimulation syndrome and pituitary hyperplasia mimicking macroadenoma associated with primary hypothyroidism

PubMed Central

Kanza, Rene Epunza; Gagnon, Sylvain; Villeneuve, Helene; Laverdiere, David; Rousseau, Isabelle; Bordeleau, Edith; Berube, Michel

2013-01-01

We report an unusual case of spontaneous ovarian hyperstimulation syndrome and pituitary hyperplasia mimicking macroadenoma in an adult, non-pregnant woman. Her condition was triggered by unrecognized primary hypothyroidism, which regressed after thyroid hormone replacement therapy. This case highlights the need for clinicians and radiologists to familiarize themselves with the clinical and imaging features detected in case of these complications of primary hypothyroidism, which are not well known in the medical and radiological profession. Such improved knowledge will help avoid delays in diagnosis, progression to life-threatening complications, and unnecessary surgery. PMID:23494012

Bronchogenic adenocarcinoma metastatic tumor mimicking a dentoalveolar abscess in the maxilla.

PubMed

Salarić, Ivan; Miloš, Mate; Brajdić, Davor; Manojlović, Spomenka; Trutin Ostović, Karmen; Macan, Darko

2016-01-01

Intraosseous metastatic tumors (IOM) in maxilla are less frequent than the soft tissue metastatic tumors. Lung and bronchogenic metastatic tumors are uncommon in the maxilla. We present a maxillary bronchogenic metastasis with a rare clinical appearance. IOM was misdiagnosed as a dentoalveolar abscess and treated with antibiotics for 3 weeks. After not responding to antibiotics, the patient's general dental practitioner forwarded the patient to the Department of Oral and Maxillofacial Surgery. The associated tooth was extracted and the patient was recalled 1 week later. No signs of improvement were observed, and cytology, biopsy, and radiology diagnostics were performed. Cytologic results and biopsy could not differentiate a metastatic tumor from a salivary duct carcinoma. Ultimately, negative androgen receptors immunohistochemistry supported the diagnosis of bronchogenic metastatic adenocarcinoma. This case report stresses the importance of taking a thorough medical history. To our knowledge, this is the third bronchogenic IOM to the maxilla reported, mimicking a dentoalveolar abscess. General dental practitioners are among the first in contact with oral metastatic tumors and it is therefore important to report unusual clinical cases, as they present a diagnostic challenge for both the clinician and the pathologist.

Deep Granuloma Annulare Mimicking Inflamed Cysts in a Teenager.

PubMed

Guo, Emily L; Degesys, Catherine A; Jahan-Tigh, Richard; Chan, Audrey

2017-07-01

We describe deep granuloma annulare (DGA) of the forehead mimicking inflamed cysts. Reactive inflammation and sterile purulent drainage may be an underrecognized feature of DGA. © 2017 Wiley Periodicals, Inc.

A rare condition: Ectopic liver tissue with its unique blood supply encountered during laparoscopic cholecystectomy.

PubMed

Bal, Ahmet; Yilmaz, Sezgin; Yavas, Betul Demirciler; Ozdemir, Cigdem; Ozsoy, Mustafa; Akici, Murat; Kalkan, Mustafa; Ersen, Ogun; Saripinar, Baris; Arikan, Yuksel

2015-01-01

Developmental abnormalities of liver including ectopic liver tissue (ELT) are rare conditions. Few cases presenting ELT have been reported in literature till now. Even though the most common area seen is gallbladder, it is detected both abdominal and thoracic sites. There is a relationship between HCC and ectopic liver that necessitates the removal. A 51-year-old female was hospitalized because of abdominal pain. Gallstone and bile duct dilatation were determined during ultrasonographic (USG) evaluation. The patient was operated for cholecystectomy following a successful endoscopic retrograde cholangiopancreatography (ERCP). During operation, a mass located on gallbladder with its unique vascular support was identified and resected together with gallbladder. The mass had a separate vascular stalk arising from liver parenchyma substance and it was clipped with laparoscopic staples. The histopathological examination revealed that the mass adherent to gallbladder was ectopic liver confirming the intraoperative observation. The postoperative course of patient was uneventfull and she was discharged at the second day after the operation. Ectopic liver tissue is incidentally found both in abdominal and thoracic cavity. ELT can rarely be diagnosed before surgical procedures or autopsies. It can be overlooked easily by radiological techniques. Although it does not usually produce any symptom clinically, it can rarely result in serious complications such as bleeding, pyloric and portal vein obstruction. ELT also has the capacity of malignant transformation to hepatocellular carcinoma that makes it essential to be removed. Although ELT is rarely seen, it should be removed when recognized in order to prevent the complications and malignant transformation. Copyright © 2015 The Authors. Published by Elsevier Ltd.. All rights reserved.

A series of parapharyngeal glial heterotopia mimicking lymphatic malformation.

PubMed

Haloob, Nora; Pepper, Christopher; Hartley, Benjamin

2015-12-01

Otolaryngologists will most frequently encounter extra-cranial glial tissue within the nasal cavity, where it is known as a 'nasal glioma', and may communicate with the dura. However, glial tissue can also present extra-nasally in the form of a neck mass with no intracranial connection. In these rare cases, they can present soon after birth as an enlarging neck mass, causing compressive symptoms with airway obstruction and feeding difficulties. In this way, it is often initially misdiagnosed as a more common lesion such as a lymphatic malformation, teratoma, branchial anomaly or vascular malformation. As with many congenital head and neck masses, offering the most the appropriate management relies heavily on radiological imaging and, where possible, histopathology from a diagnostic biopsy. Once the diagnosis of extra-nasal glial heterotopia has been confirmed, the gold standard management is complete surgical excision. We review three cases of extra-nasal glial heterotopia presenting to our institution over an eleven year period as a large neck mass, which mimicked other congenital neck lumps, and discuss them in the context of those in the literature. We highlight how their clinical and radiological features can easily be confused with lymphatic malformations, and the potential implications of misdiagnosis. Raising awareness of this diagnostic confusion will highlight the need for management of these cases within an appropriate paediatric multidisciplinary setting. Copyright © 2015 Elsevier Ireland Ltd. All rights reserved.

Multi-modality gellan gum-based tissue-mimicking phantom with targeted mechanical, electrical, and thermal properties.

PubMed

Chen, Roland K; Shih, A J

2013-08-21

This study develops a new class of gellan gum-based tissue-mimicking phantom material and a model to predict and control the elastic modulus, thermal conductivity, and electrical conductivity by adjusting the mass fractions of gellan gum, propylene glycol, and sodium chloride, respectively. One of the advantages of gellan gum is its gelling efficiency allowing highly regulable mechanical properties (elastic modulus, toughness, etc). An experiment was performed on 16 gellan gum-based tissue-mimicking phantoms and a regression model was fit to quantitatively predict three material properties (elastic modulus, thermal conductivity, and electrical conductivity) based on the phantom material's composition. Based on these material properties and the regression model developed, tissue-mimicking phantoms of porcine spinal cord and liver were formulated. These gellan gum tissue-mimicking phantoms have the mechanical, thermal, and electrical properties approximately equivalent to those of the spinal cord and the liver.

Mimicking microbial interactions under nitrate-reducing conditions in an anoxic bioreactor: enrichment of novel Nitrospirae bacteria distantly related to Thermodesulfovibrio.

PubMed

Arshad, Arslan; Dalcin Martins, Paula; Frank, Jeroen; Jetten, Mike S M; Op den Camp, Huub J M; Welte, Cornelia U

2017-12-01

Microorganisms are main drivers of the sulfur, nitrogen and carbon biogeochemical cycles. These elemental cycles are interconnected by the activity of different guilds in sediments or wastewater treatment systems. Here, we investigated a nitrate-reducing microbial community in a laboratory-scale bioreactor model that closely mimicked estuary or brackish sediment conditions. The bioreactor simultaneously consumed sulfide, methane and ammonium at the expense of nitrate. Ammonium oxidation occurred solely by the activity of anammox bacteria identified as Candidatus Scalindua brodae and Ca. Kuenenia stuttgartiensis. Fifty-three percent of methane oxidation was catalyzed by archaea affiliated to Ca. Methanoperedens and 47% by Ca. Methylomirabilis bacteria. Sulfide oxidation was mainly shared between two proteobacterial groups. Interestingly, competition for nitrate did not lead to exclusion of one particular group. Metagenomic analysis showed that the most abundant taxonomic group was distantly related to Thermodesulfovibrio sp. (87-89% 16S rRNA gene identity, 52-54% average amino acid identity), representing a new family within the Nitrospirae phylum. A high quality draft genome of the new species was recovered, and analysis showed high metabolic versatility. Related microbial groups are found in diverse environments with sulfur, nitrogen and methane cycling, indicating that these novel Nitrospirae bacteria might contribute to biogeochemical cycling in natural habitats. © 2017 Society for Applied Microbiology and John Wiley & Sons Ltd.

Targeted Protein Degradation by Salmonella under Phagosome-Mimicking Culture Conditions Investigated Using Comparative Peptidomics

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

Manes, Nathan P.; Gustin, Jean K.; Rue, Joanne

2007-04-01

The pathogen Salmonella enterica is known to cause both food poisoning and typhoid fever. Due to the emergence of antibiotic-resistant isolates and the threat of bioterrorism (e.g., contamination of the food supply), there is a growing need to study this bacterium. In this investigation, comparative peptidomics was used to study Salmonella enterica serovar Typhimurium cultured in either a rich medium or in an acidic, low magnesium, and minimal nutrient medium designed to roughly mimic the macrophage phagosomal compartment (within which Salmonella are known to survive). Native peptides from cleared cell lysates were enriched by using isopropanol extraction and analyzed bymore » using both LC-MS/MS and LC-FTICR-MS. We identified 5,163 distinct peptides originating from 682 proteins and the data clearly indicated that compared to cells cultured in the rich medium, Salmonella cultured in the phagosome-mimicking medium had dramatically higher abundances of a wide variety of protein degradation products, especially from ribosomal proteins. Salmonella from the same cultures were also analyzed by using bottom-up proteomics, and when the peptidomic and proteomic data were analyzed together, two clusters of proteins targeted for proteolysis were tentatively identified. Possible roles of targeted proteolysis by phagocytosed Salmonella are discussed.« less

Pneumopyopericardium mimicking an inferior ST elevation myocardial infarction with regional electrocardiogram changes: a case report.

PubMed

Ratnayake, Eranda Chamara; Premaratne, Sandamali; Lokunarangoda, Niroshan; Fernando, Sanduni; Fernando, Nilanthi; Ponnamperuma, Chandrike; Santharaj, W Samuel

2015-04-30

Pneumopyopericardium is a rare disease with poor prognosis. The usual presentation is with fever, shortness of breath and haemodynamic compromise. The Electrocardiogram changes associated with this disease entity would be similar to pericarditis such as concave shaped ST elevations in all leads with PR sagging. Pneumopyopericardium mimicking an acute ST Elevation Myocardial Infarction, with regional Electrocardiogram changes has hitherto not been described in world literature. We describe the case of a 48 year old native Sri Lankan man, presenting with chest pain and Electrocardiogram changes compatible with an Acute ST Elevation Myocardial Infarction, subsequently found to have Pneumopyopericardium secondary to an oesophageal tear. Retrospective history revealed repetitive vomiting due to heavy alcohol consumption, prior to presentation. It unfortunately led to a fatal outcome. Pneumopyopericardium may mimic an acute ST elevation myocardial infarction with associated regional Electrocardiogram changes. A high degree of suspicion should be maintained and an adequate history should always be obtained prior to any intervention in all ST Elevation Myocardial Infarction patients.

Cerebello-cortical network fingerprints differ between essential, Parkinson's and mimicked tremors.

PubMed

Muthuraman, Muthuraman; Raethjen, Jan; Koirala, Nabin; Anwar, Abdul Rauf; Mideksa, Kidist G; Elble, Rodger; Groppa, Sergiu; Deuschl, Günter

2018-06-01

Cerebello-thalamo-cortical loops play a major role in the emergence of pathological tremors and voluntary rhythmic movements. It is unclear whether these loops differ anatomically or functionally in different types of tremor. We compared age- and sex-matched groups of patients with Parkinson's disease or essential tremor and healthy controls (n = 34 per group). High-density 256-channel EEG and multi-channel EMG from extensor and flexor muscles of both wrists were recorded simultaneously while extending the hands against gravity with the forearms supported. Tremor was thereby recorded from patients, and voluntarily mimicked tremor was recorded from healthy controls. Tomographic maps of EEG-EMG coherence were constructed using a beamformer algorithm coherent source analysis. The direction and strength of information flow between different coherent sources were estimated using time-resolved partial-directed coherence analyses. Tremor severity and motor performance measures were correlated with connection strengths between coherent sources. The topography of oscillatory coherent sources in the cerebellum differed significantly among the three groups, but the cortical sources in the primary sensorimotor region and premotor cortex were not significantly different. The cerebellar and cortical source combinations matched well with known cerebello-thalamo-cortical connections derived from functional MRI resting state analyses according to the Buckner-atlas. The cerebellar sources for Parkinson's tremor and essential tremor mapped primarily to primary sensorimotor cortex, but the cerebellar source for mimicked tremor mapped primarily to premotor cortex. Time-resolved partial-directed coherence analyses revealed activity flow mainly from cerebellum to sensorimotor cortex in Parkinson's tremor and essential tremor and mainly from cerebral cortex to cerebellum in mimicked tremor. EMG oscillation flowed mainly to the cerebellum in mimicked tremor, but oscillation flowed mainly

Giant hydronephrosis mimicking progressive malignancy

PubMed Central

Schrader, Andres Jan; Anderer, Georgia; von Knobloch, Rolf; Heidenreich, Axel; Hofmann, Rainer

2003-01-01

Background Cases of giant hydronephroses are rare and usually contain no more than 1–2 litres of fluid in the collecting system. We report a remarkable case of giant hydronephrosis mimicking a progressive malignant abdominal tumour. Case presentation A 78-year-old cachectic woman presented with an enormous abdominal tumour, which, according to the patient, had slowly increased in diameter. Medical history was unremarkable except for a hysterectomy >30 years before. A CT scan revealed a giant cystic tumour filling almost the entire abdominal cavity. It was analysed by two independent radiologists who suspected a tumour originating from the right kidney and additionally a cystic ovarian neoplasm. Subsequently, a diagnostic and therapeutic laparotomy was performed: the tumour presented as a cystic, 35 × 30 × 25 cm expansive structure adhesive to adjacent organs without definite signs of invasive growth. The right renal hilar vessels could finally be identified at its basis. After extirpation another tumourous structure emerged in the pelvis originating from the genital organs and was also resected. The histopathological examination revealed a >15 kg hydronephrotic right kidney, lacking hardly any residual renal cortex parenchyma. The second specimen was identified as an ovary with regressive changes and a large partially calcified cyst. There was no evidence of malignant growth. Conclusion Although both clinical symptoms and the enormous size of the tumour indicated malignant growth, it turned out to be a giant hydronephrosis. Presumably, a chronic obstruction of the distal ureter had caused this extraordinary hydronephrosis. As demonstrated in our case, an accurate diagnosis of giant hydronephrosis remains challenging due to the atrophy of the renal parenchyma associated with chronic obstruction. Therefore, any abdominal cystic mass even in the absence of other evident pathologies should include the differential diagnosis of a possible hydronephrosis. Diagnostic

Necrotizing enterocolitis, a rare but severe condition with insidious postoperative complications.

PubMed

Bălălău, C; Motofei, I; Voiculescu, S; Popa, F; Scăunaşu, R V

2013-01-01

Necrotizing enterocolitis (NEC) is one of the most frequent causes of gastrointestinal perforation in premature neonates, only few case series and reports being described in adult patients. Early in the course of the disease, superficial mucosal ulceration, sub mucosal edema and hemorrhage occur. Further progression leads to transmural necrosis leading sometimes to bowel perforation. Six cases encountered in our clinic in recent years led us to resume discussions on necrotizing enteritis, not because it is a rare disease, but due to the severe postoperative complications. Our lot consisted of four stage 1 patients and two with Bell stage III NEC and severe intestinal injury, necrosis, and perforation. All of the patients were diagnosed preoperatory with other surgical conditions, like appendicitis with peritonitis, perforated duodenal ulcer or acute cholecystitis. We present to review two cases. For patients undergoing laparotomy, resection of the involved intestine mandates either enterostomy formation or primary anastomosis. An intermediate option is laparotomy with intestinal resection and delayed anastomosis 48 to 72 hours later. Because of the small number of patients in our lot, we cannot advise a certain surgical treatment, but a strategy involving bienterostomyper primam should be further analyzed. The choice of operative intervention reflects multiple variables, including age, physiologic status, institutional resources and surgeon preference based on experience. Primary peritoneal drainage for perforated NEC may help to resuscitate and treat a critically ill patient initially, and in some instances, may be definitive operative intervention. Relatively rare disease, of unknown etiology and elusive pathogenesis, NEC has initial non-specific symptoms and clinical features that mimic more common surgical diseases. There is considerable controversy regarding which procedure is preferable. Currently, in the absence of rigorous evidence supporting the

Primary extraskeletal myxoid chondrosarcoma of pulmonary arteries: a rare mimic of acute pulmonary thromboembolism.

PubMed

Gadabanahalli, Karthik; Belaval, Vinay V; Bhat, Venkatraman; Gorur, Imran M

2015-04-01

Primary extraskeletal myxoid chondrosarcoma of the pulmonary arteries is a very rare entity. Multimodality imaging reports on this entity are few. Myxoid chondrosarcoma is characterized by chondroid and neurogenic differentiation in extraskeletal locations. These tumours represent fewer than 2.5% of all soft-tissue sarcomas, and are most commonly found in the lower extremities, limb girdles, distal extremities and trunk. We report an unusual case of a 31-year old man with histopathologically proven extraskeletal myxoid chondrosarcoma of the pulmonary arteries mimicking acute pulmonary thromboembolism. © The Author 2015. Published by Oxford University Press on behalf of the European Association for Cardio-Thoracic Surgery. All rights reserved.

Fabrication and characterization of biotissue-mimicking phantoms in the THz frequency range

NASA Astrophysics Data System (ADS)

Liakhov, E.; Smolyanskaya, O.; Popov, A.; Odlyanitskiy, E.; Balbekin, N.; Khodzitsky, M.

2016-08-01

The study revealed the most promising candidates for phantoms mimicking different biological tissues in the terahertz frequency range. Closest to biological tissues in terms of the refractive index appeared to be gelatin-based gels; in terms of the absorption coefficient they were agar-based gels. Gelatin is more stable in time, but requires special storage conditions to limit water evaporation. The dense structure of the agar-based phantom allows its use without mold and risk of damage. However, agar is a nutrient medium for bacteria and its parameters degrade even when the phantom form and water content are retained. Use of liquid suspensions of lecithin and milk powder are found to be extremely limited.

Imaging findings of mimickers of hepatocellular carcinoma

PubMed Central

Lee, Eunchae; Jang, Hyun-Jung

2015-01-01

Radiological imaging plays a crucial role in the diagnosis of hepatocellular carcinoma (HCC) as the noninvasive diagnosis of HCC in high-risk patients by typical imaging findings alone is widely adopted in major practice guidelines for HCC. While imaging techniques have markedly improved in detecting small liver lesions, they often detect incidental benign liver lesions and non-hepatocellular malignancy that can be misdiagnosed as HCC. The most common mimicker of HCC in cirrhotic liver is nontumorous arterioportal shunts that are seen as focal hypervascular liver lesions on dynamic contrast-enhanced cross-sectional imaging. Rapidly enhancing hemangiomas can be easily misdiagnosed as HCC especially on MR imaging with liver-specific contrast agent. Focal inflammatory liver lesions mimic HCC by demonstrating arterial-phase hypervascularity and subsequent washout on dynamic contrast-enhanced imaging. It is important to recognize the suggestive imaging findings for intrahepatic cholangiocarcinoma (CC) as the management of CC is largely different from that of HCC. There are other benign mimickers of HCC such as angiomyolipomas and focal nodular hyperplasia-like nodules. Recognition of their typical imaging findings can reduce false-positive HCC diagnosis. PMID:26770920

Whipple's disease mimicking rheumatoid arthritis can cause misdiagnosis and treatment failure.

PubMed

Glaser, Cornelia; Rieg, Siegbert; Wiech, Thorsten; Scholz, Christine; Endres, Dominique; Stich, Oliver; Hasselblatt, Peter; Geißdörfer, Walter; Bogdan, Christian; Serr, Annerose; Häcker, Georg; Voll, Reinhard E; Thiel, Jens; Venhoff, Nils

2017-05-25

Whipple's disease, a rare chronic infectious disorder caused by Tropheryma whipplei, may present with predominant joint manifestations mimicking rheumatoid arthritis (RA). A retrospective single-center cohort study of seven patients was performed. Clinical symptoms were assessed by review of medical charts and Whipple's disease was diagnosed by periodic-acid-Schiff-stain and/or Tropheryma whipplei-specific polymerase-chain-reaction. Median age at disease onset was 54 years, six patients were male. Median time to diagnosis was 5 years. All patients presented with polyarthritis with a predominantly symmetric pattern. Three had erosive arthritis. Affected joints were: wrists (5/7), metacarpophalangeal joints (MCPs) (5/7), knees (5/7), proximal interphalangeal joints (PIPs) (3/7), hips (2/7), elbow (2/7), shoulder (2/7). All patients had increased C-reactive-protein concentrations, while rheumatoid factor and anti-CCP-antibodies were absent, and were initially (mis)classified as RA-patients according to EULAR/ACR-criteria (median DAS28 4.3). Six patients received antirheumatic treatment consisting of prednisone with methotrexate and/or leflunomide, three were additionally treated with at least one biologic agent (abatacept, adalimumab, etanercept, rituximab, tocilizumab). Most patients showed insufficient treatment response. In all patients Tropheryma whipplei was detected in synovial fluid by polymerase-chain-reaction; in three patients the diagnosis of Whipple's disease was further ascertained by periodic-acid-Schiff-staining. Gastrointestinal symptoms and other extra-articular manifestations were absent, mild or non-specific. Treatment was initiated with trimethoprin/sulfamethoxazole in five and doxycycline/hydroxychloroquine in two patients and had to be adapted in five patients. Finally, all patients had good treatment responses with improvement of arthritis and extra-articular manifestations. Whipple's disease is rare and can mimic rheumatoid arthritis

Peroxidase-Mimicking Nanozyme with Enhanced Activity and High Stability Based on Metal-Support Interactions.

PubMed

Li, Zhihao; Yang, Xiangdong; Yang, Yanbing; Tan, Yaning; He, Yue; Liu, Meng; Liu, Xinwen; Yuan, Quan

2018-01-09

Peroxidase-mimicking nanozymes offer unique advantages in terms of high stability and low cost over natural peroxidase for applications in bioanalysis, biomedicine, and the treatment of pollution. However, the design of high-efficiency peroxidase-mimicking nanozymes remains a great challenge. In this study, we adopted a structural-design approach through hybridization of cube-CeO 2 and Pt nanoparticles to create a new peroxidase-mimicking nanozyme with high efficiency and excellent stability. Relative to pure cube-CeO 2 and Pt nanoparticles, the as-hybridized Pt/cube-CeO 2 nanocomposites display much improved activities because of the strong metal-support interaction. Meanwhile, the nanocomposites also maintain high catalytic activity after long-term storage and multiple recycling. Based on their excellent properties, Pt/cube-CeO 2 nanocomposites were used to construct high-performance colorimetric biosensors for the sensitive detection of metabolites, including H 2 O 2 and glucose. Our findings highlight opportunities for the development of high-efficiency peroxidase-mimicking nanozymes with potential applications such as diagnostics, biomedicine, and the treatment of pollution. © 2018 Wiley-VCH Verlag GmbH & Co. KGaA, Weinheim.

A rare case of an ACTH/CRH co-secreting midgut neuroendocrine tumor mimicking Cushing's disease.

PubMed

Streuli, Regina; Krull, Ina; Brändle, Michael; Kolb, Walter; Stalla, Günter; Theodoropoulou, Marily; Enzler-Tschudy, Annette; Bilz, Stefan

2017-01-01

Ectopic ACTH/CRH co-secreting tumors are a very rare cause of Cushing's syndrome and only a few cases have been reported in the literature. Differentiating between Cushing's disease and ectopic Cushing's syndrome may be particularly difficult if predominant ectopic CRH secretion leads to pituitary corticotroph hyperplasia that may mimic Cushing's disease during dynamic testing with both dexamethasone and CRH as well as bilateral inferior petrosal sinus sampling (BIPSS). We present the case of a 24-year-old man diagnosed with ACTH-dependent Cushing's syndrome caused by an ACTH/CRH co-secreting midgut NET. Both high-dose dexamethasone testing and BIPSS suggested Cushing's disease. However, the clinical presentation with a rather rapid onset of cushingoid features, hyperpigmentation and hypokalemia led to the consideration of ectopic ACTH/CRH-secretion and prompted a further workup. Computed tomography (CT) of the abdomen revealed a cecal mass which was identified as a predominantly CRH-secreting neuroendocrine tumor. To the best of our knowledge, this is the first reported case of an ACTH/CRH co-secreting tumor of the cecum presenting with biochemical features suggestive of Cushing's disease. The discrimination between a Cushing's disease and ectopic Cushing's syndrome is challenging and has many caveats.Ectopic ACTH/CRH co-secreting tumors are very rare.Dynamic tests as well as BIPSS may be compatible with Cushing's disease in ectopic CRH-secretion.High levels of CRH may induce hyperplasia of the corticotroph cells in the pituitary. This could be the cause of a preserved pituitary response to dexamethasone and CRH.Clinical features of ACTH-dependent hypercortisolism with rapid development of Cushing's syndrome, hyperpigmentation, high circulating levels of cortisol with associated hypokalemia, peripheral edema and proximal myopathy should be a warning flag of ectopic Cushing's syndrome and lead to further investigations.

A rare case of an ACTH/CRH co-secreting midgut neuroendocrine tumor mimicking Cushing's disease

PubMed Central

Streuli, Regina; Krull, Ina; Brändle, Michael; Kolb, Walter; Stalla, Günter; Theodoropoulou, Marily; Enzler-Tschudy, Annette

2017-01-01

Ectopic ACTH/CRH co-secreting tumors are a very rare cause of Cushing’s syndrome and only a few cases have been reported in the literature. Differentiating between Cushing’s disease and ectopic Cushing’s syndrome may be particularly difficult if predominant ectopic CRH secretion leads to pituitary corticotroph hyperplasia that may mimic Cushing’s disease during dynamic testing with both dexamethasone and CRH as well as bilateral inferior petrosal sinus sampling (BIPSS). We present the case of a 24-year-old man diagnosed with ACTH-dependent Cushing’s syndrome caused by an ACTH/CRH co-secreting midgut NET. Both high-dose dexamethasone testing and BIPSS suggested Cushing’s disease. However, the clinical presentation with a rather rapid onset of cushingoid features, hyperpigmentation and hypokalemia led to the consideration of ectopic ACTH/CRH-secretion and prompted a further workup. Computed tomography (CT) of the abdomen revealed a cecal mass which was identified as a predominantly CRH-secreting neuroendocrine tumor. To the best of our knowledge, this is the first reported case of an ACTH/CRH co-secreting tumor of the cecum presenting with biochemical features suggestive of Cushing’s disease. Learning points: The discrimination between a Cushing’s disease and ectopic Cushing’s syndrome is challenging and has many caveats. Ectopic ACTH/CRH co-secreting tumors are very rare. Dynamic tests as well as BIPSS may be compatible with Cushing’s disease in ectopic CRH-secretion. High levels of CRH may induce hyperplasia of the corticotroph cells in the pituitary. This could be the cause of a preserved pituitary response to dexamethasone and CRH. Clinical features of ACTH-dependent hypercortisolism with rapid development of Cushing’s syndrome, hyperpigmentation, high circulating levels of cortisol with associated hypokalemia, peripheral edema and proximal myopathy should be a warning flag of ectopic Cushing’s syndrome and lead to further investigations

Why some plant species are rare.

PubMed

Wieger Wamelink, G W; Wamelink, G W Weiger; Goedhart, Paul W; Frissel, Joep; Frissel, Josep Y

2014-01-01

Biodiversity, including plant species diversity, is threatened worldwide as a result of anthropogenic pressures such as an increase of pollutants and climate change. Rare species in particular are on the verge of becoming extinct. It is still unclear as to why some plant species are rare and others are not. Are they rare due to: intrinsic reasons, dispersal capacity, the effects of management or abiotic circumstances? Habitat preference of rare plant species may play an important role in determining why some species are rare. Based on an extensive data set of soil parameters we investigated if rarity is due to a narrow habitat preference for abiotic soil parameters. For 23 different abiotic soil parameters, of which the most influential were groundwater-table, soil-pH and nutrient-contents, we estimated species responses for common and rare species. Based on the responses per species we calculated the range of occurrence, the range between the 5 and 95 percentile of the response curve giving the habitat preference. Subsequently, we calculated the average response range for common and rare species. In addition, we designed a new graphic in order to provide a better means for presentation of the results. The habitat preferences of rare species for abiotic soil conditions are significantly narrower than for common species. Twenty of the twenty-three abiotic parameters showed on average significantly narrower habitat preferences for rare species than for common species; none of the abiotic parameters showed on average a narrower habitat preference for common species. The results have major implications for the conservation of rare plant species; accordingly management and nature development should be focussed on the maintenance and creation of a broad range of environmental conditions, so that the requirements of rare species are met. The conservation of (abiotic) gradients within ecosystems is particularly important for preserving rare species.

Pleomorphic Hyalinizing Angiectatic Tumour: A Rare Case Report and Discussion of Differential Diagnosis.

PubMed

Chalmeti, Ambica; Arakeri, Surekha U; Javalgi, Anita P; Goyal, Shefali

2017-08-01

Pleomorphic Hyalinizing Angiectatic Tumour (PHAT) is one of the rare soft tissue tumour which is non-metastasizing. The origin of this tumour is yet uncertain. It occurs in adults as a slow growing subcutaneous mass mimicking clinically and histologically to various benign and malignant soft tissue tumours such as schwannoma, haemangioma and malignant fibrous histiocytoma. The microscopic features of this tumour include clusters of ectatic, fibrin containing, hyalinized blood vessels with pleomorphic and spindle shaped tumour cells showing intranuclear inclusions, stromal haemosiderin pigment and a variable inflammatory infiltrate. Despite marked pleomorphism, the lesion behaves as a low grade neoplasm, with frequent recurrences, but no metastases. The incidence of this tumour is very rare with less than 100 cases being published. Hence, awareness of this entity is must for proper management of the patient and to avoid misdiagnosis of the lesion. We report a case of pleomorphic hyalinizing angiectatic tumour in a 50-year-old man who presented with a slow growing mass in the left calf region since two years.

Pleomorphic Hyalinizing Angiectatic Tumour: A Rare Case Report and Discussion of Differential Diagnosis

PubMed Central

Arakeri, Surekha U; Javalgi, Anita P; Goyal, Shefali

2017-01-01

Pleomorphic Hyalinizing Angiectatic Tumour (PHAT) is one of the rare soft tissue tumour which is non-metastasizing. The origin of this tumour is yet uncertain. It occurs in adults as a slow growing subcutaneous mass mimicking clinically and histologically to various benign and malignant soft tissue tumours such as schwannoma, haemangioma and malignant fibrous histiocytoma. The microscopic features of this tumour include clusters of ectatic, fibrin containing, hyalinized blood vessels with pleomorphic and spindle shaped tumour cells showing intranuclear inclusions, stromal haemosiderin pigment and a variable inflammatory infiltrate. Despite marked pleomorphism, the lesion behaves as a low grade neoplasm, with frequent recurrences, but no metastases. The incidence of this tumour is very rare with less than 100 cases being published. Hence, awareness of this entity is must for proper management of the patient and to avoid misdiagnosis of the lesion. We report a case of pleomorphic hyalinizing angiectatic tumour in a 50-year-old man who presented with a slow growing mass in the left calf region since two years. PMID:28969147

Cystic Benign Metastasizing Leiomyoma of the Lung Mimicking Hydatid Cyst.

PubMed

Alimi, Faouzi; El Hadj Sidi, Chighali; Ghannouchi, Chams

2016-12-01

A 60-year-old woman, with history of a resected uterine benign leiomyoma, is operated for a cystic lesion in the left lung, mimicking an hydatid cyst, and confirmed histologically as Cystic Benign Metastasizing Leiomyoma.

Clinical and Histologic Mimickers of Celiac Disease.

PubMed

Kamboj, Amrit K; Oxentenko, Amy S

2017-08-17

Celiac disease is an autoimmune disorder of the small bowel, classically associated with diarrhea, abdominal pain, and malabsorption. The diagnosis of celiac disease is made when there are compatible clinical features, supportive serologic markers, representative histology from the small bowel, and response to a gluten-free diet. Histologic findings associated with celiac disease include intraepithelial lymphocytosis, crypt hyperplasia, villous atrophy, and a chronic inflammatory cell infiltrate in the lamina propria. It is important to recognize and diagnose celiac disease, as strict adherence to a gluten-free diet can lead to resolution of clinical and histologic manifestations of the disease. However, many other entities can present with clinical and/or histologic features of celiac disease. In this review article, we highlight key clinical and histologic mimickers of celiac disease. The evaluation of a patient with serologically negative enteropathy necessitates a carefully elicited history and detailed review by a pathologist. Medications can mimic celiac disease and should be considered in all patients with a serologically negative enteropathy. Many mimickers of celiac disease have clues to the underlying diagnosis, and many have a targeted therapy. It is necessary to provide patients with a correct diagnosis rather than subject them to a lifetime of an unnecessary gluten-free diet.

Rational Design of Pathogen-Mimicking Amphiphilic Materials as Nanoadjuvants

NASA Astrophysics Data System (ADS)

Ulery, Bret D.; Petersen, Latrisha K.; Phanse, Yashdeep; Kong, Chang Sun; Broderick, Scott R.; Kumar, Devender; Ramer-Tait, Amanda E.; Carrillo-Conde, Brenda; Rajan, Krishna; Wannemuehler, Michael J.; Bellaire, Bryan H.; Metzger, Dennis W.; Narasimhan, Balaji

2011-12-01

An opportunity exists today for cross-cutting research utilizing advances in materials science, immunology, microbial pathogenesis, and computational analysis to effectively design the next generation of adjuvants and vaccines. This study integrates these advances into a bottom-up approach for the molecular design of nanoadjuvants capable of mimicking the immune response induced by a natural infection but without the toxic side effects. Biodegradable amphiphilic polyanhydrides possess the unique ability to mimic pathogens and pathogen associated molecular patterns with respect to persisting within and activating immune cells, respectively. The molecular properties responsible for the pathogen-mimicking abilities of these materials have been identified. The value of using polyanhydride nanovaccines was demonstrated by the induction of long-lived protection against a lethal challenge of Yersinia pestis following a single administration ten months earlier. This approach has the tantalizing potential to catalyze the development of next generation vaccines against diseases caused by emerging and re-emerging pathogens.

Fate of pathogenic bacteria in microcosms mimicking human body sites.

PubMed

Castellani, Francesco; Ghidini, Valentina; Tafi, Maria Carla; Boaretti, Marzia; Lleo, Maria M

2013-07-01

During the infectious process, pathogens may reach anatomical sites where they are exposed to substances interfering with their growth. These substances can include molecules produced by the host, and his resident microbial population, as well as exogenous antibacterial drugs. Suboptimal concentrations of inhibitory molecules and stress conditions found in vivo (high or low temperatures, lack of oxygen, extreme pH) might induce in bacteria the activation of survival mechanisms blocking their division capability but allowing them to stay alive. These "dormant" bacteria can be reactivated in particular circumstances and would be able to express their virulence traits. In this study, it was evaluated the effect of some environmental conditions, such as optimal and suboptimal temperatures, direct light and antibiotic sub-inhibitory concentrations doses of antibiotic, on the human pathogens Escherichia coli and Enterococcus faecalis when incubated in fluids accumulated in the body of patients with different pathologies. It is shown that inoculation in a number of accumulated body fluids and the presence of gentamicin, reliable conditions encountered during pathological states, induce stress-responding strategies enabling bacteria to persist in microcosms mimicking the human body. Significant differences were detected in Gram-negative and Gram-positive species with E. faecalis surviving, as starved or viable but non-culturable forms, in any microcosm and condition tested and E. coli activating a viable but non-culturable state only in some clinical samples. The persistence of bacteria under these conditions, being non-culturable, might explain some recurrent infections without isolation of the causative agent after application of the standard microbiological methods.

Friedreich's ataxia mimicking hereditary motor and sensory neuropathy.

PubMed

Panas, Marios; Kalfakis, Nikolaos; Karadima, Georgia; Davaki, Panagiota; Vassilopoulos, Demetris

2002-11-01

Four patients from three unrelated families, with clinical and electrophysiological findings compatible with the diagnosis of hereditary motor and sensory neuropathy, are presented. The molecular analysis showed that the affected individuals were homozygous for the mutation in the X25 gene, characteristic of Friedreich's ataxia. These patients seem to represent a form of Friedreich's ataxia mimicking Charcot-Marie-Tooth disease.

A resected case of medullary carcinoma of the ascending colon followed by infarction of the greater omentum mimicking anastomotic leakage.

PubMed

Wakasugi, Masaki; Kono, Hiroshi; Yasuhara, Yumiko; Tsujimura, Naoto; Nakahara, Yujiro; Matsumoto, Takashi; Takemoto, Hiroyoshi; Takachi, Ko; Nishioka, Kiyonori; Yoshida, Kyotaro; Oshima, Satoshi

2017-01-01

Medullary carcinoma is a rare type of colorectal adenocarcinoma, and omental infarction is a rare cause of acute abdomen. A 72-year-old woman underwent single-incision laparoscopic right hemicolectomy for ascending colon cancer. Pathological examination showed a medullary carcinoma (MC) of T4aN0M0 Stage IIB. Her postoperative course was uneventful, and she was discharged on postoperative day (POD) 6. From POD 7, she suffered from fever, and she returned to the hospital on POD 9. Plain computed tomography showed free air beside the anastomotic site around the elevated density of fat tissue and gallbladder wall thickening with a gallstone. Suspecting anastomotic leakage with acute cholecystitis, probe laparotomy was performed. Intraoperative observation confirmed omental infarction with acute cholecystitis, and no leakage was found at the anastomotic site. Therefore, the necrotic part of the greater omentum was resected, and cholecystectomy was performed. She has remained well, with no evidence of recurrent cancer during the 12 months of follow-up without chemotherapy after the surgery for MC of the ascending colon. MC should be distinguished from other more aggressive, non-glandular tumors of the colon because MC appears to have a better survival outcome than undifferentiated colon adenocarcinoma. Omental infarction should be considered in the differential diagnosis of acute abdomen after surgery. A rare case of medullary carcinoma of the ascending colon followed by infarction of the greater omentum mimicking anastomotic leakage is presented.

Autoimmunity to Tropomyosin-Specific Peptides Induced by Mycobacterium leprae in Leprosy Patients: Identification of Mimicking Proteins.

PubMed

Singh, Itu; Yadav, Asha Ram; Mohanty, Keshar Kunja; Katoch, Kiran; Sharma, Prashant; Pathak, Vinay Kumar; Bisht, Deepa; Gupta, Umesh D; Sengupta, Utpal

2018-01-01

It has been shown earlier that there is a rise in the levels of autoantibodies and T cell response to cytoskeletal proteins in leprosy. Our group recently demonstrated a rise in both T and B cell responses to keratin and myelin basic protein in all types of leprosy patients and their associations in type 1 reaction (T1R) group of leprosy. In this study, we investigated the association of levels of autoantibodies and lymphoproliferation against myosin in leprosy patients across the spectrum and tried to find out the mimicking proteins or epitopes between host protein and protein/s of Mycobacterium leprae . One hundred and sixty-nine leprosy patients and 55 healthy controls (HC) were enrolled in the present study. Levels of anti-myosin antibodies and T-cell responses against myosin were measured by ELISA and lymphoproliferation assay, respectively. Using 2-D gel electrophoresis, western blot and MALDI-TOF/TOF antibody-reactive spots were identified. Three-dimensional structure of mimicking proteins was modeled by online server. B cell epitopes of the proteins were predicted by BCPREDS server 1.0 followed by identification of mimicking epitopes. Mice of inbred BALB/c strain were hyperimmunized with M. leprae soluble antigen (MLSA) and splenocytes and lymph node cells of these animals were adoptively transferred to naïve mice. Highest level of anti-myosin antibodies was noted in sera of T1R leprosy patients. We observed significantly higher levels of lymphoproliferative response ( p  < 0.05) with myosin in all types of leprosy patients compared to HC. Further, hyperimmunization of inbred BALB/c strain of female mice and rabbit with MLSA revealed that both hyperimmunized rabbit and mice evoked heightened levels of antibodies against myosin and this autoimmune response could be adoptively transferred from hyperimmunized to naïve mice. Tropomyosin was found to be mimicking with ATP-dependent Clp protease ATP-binding subunit of M. leprae . We found four mimicking

Multilayered tissue mimicking skin and vessel phantoms with tunable mechanical, optical, and acoustic properties

PubMed Central

Chen, Alvin I.; Balter, Max L.; Chen, Melanie I.; Gross, Daniel; Alam, Sheikh K.; Maguire, Timothy J.; Yarmush, Martin L.

2016-01-01

Purpose: This paper describes the design, fabrication, and characterization of multilayered tissue mimicking skin and vessel phantoms with tunable mechanical, optical, and acoustic properties. The phantoms comprise epidermis, dermis, and hypodermis skin layers, blood vessels, and blood mimicking fluid. Each tissue component may be individually tailored to a range of physiological and demographic conditions. Methods: The skin layers were constructed from varying concentrations of gelatin and agar. Synthetic melanin, India ink, absorbing dyes, and Intralipid were added to provide optical absorption and scattering in the skin layers. Bovine serum albumin was used to increase acoustic attenuation, and 40 μm diameter silica microspheres were used to induce acoustic backscatter. Phantom vessels consisting of thin-walled polydimethylsiloxane tubing were embedded at depths of 2–6 mm beneath the skin, and blood mimicking fluid was passed through the vessels. The phantoms were characterized through uniaxial compression and tension experiments, rheological frequency sweep studies, diffuse reflectance spectroscopy, and ultrasonic pulse-echo measurements. Results were then compared to in vivo and ex vivo literature data. Results: The elastic and dynamic shear behavior of the phantom skin layers and vessel wall closely approximated the behavior of porcine skin tissues and human vessels. Similarly, the optical properties of the phantom tissue components in the wavelength range of 400–1100 nm, as well as the acoustic properties in the frequency range of 2–9 MHz, were comparable to human tissue data. Normalized root mean square percent errors between the phantom results and the literature reference values ranged from 1.06% to 9.82%, which for many measurements were less than the sample variability. Finally, the mechanical and imaging characteristics of the phantoms were found to remain stable after 30 days of storage at 21 °C. Conclusions: The phantoms described in this

Rare earths, the lanthanides, yttrium and scandium

USGS Publications Warehouse

Hedrick, J.B.

2006-01-01

In 2005, rare earths were not mined in the United States. The major supplier, Molycorp, continued to maintain a large stockpile of rare-earth concentrates and compounds. Consumption decreased of refined rare-earth products. The United States remained a major importer and exporter of rare earths in 2005. During the same period, yttrium was not mined or refined in the US. Hence, supply of yttrium compounds for refined yttrium products came from China, France and Japan. Scandium was not also mined. World production was primarily in China, Russia and Ukraine. Demand for rare earths in 2006 is expected to be closely tied to economic conditions in the US.

Systemic lupus erythematosus (SLE) pneumonitis mimicking swine influenza pneumonia during the swine influenza (H1N1) pandemic.

PubMed

Cunha, Burke A; Syed, Uzma; Mickail, Nardeen

2011-01-01

We present a young woman with a negative medical history who presented with acute systemic lupus erythematosus (SLE) pneumonitis mimicking swine influenza (H1N1) pneumonia. Because this case occurred during the H1N1 pandemic, the initial diagnostic impression was of H1N1 pneumonia. Although her clinical and laboratory findings were consistent with the diagnosis of H1N1 pneumonia, e.g., fever, sore throat, dry cough, arthralgias, myalgias, thrombocytopenia, relative lymphopenia, and elevated serum transaminases, some findings suggested an alternate diagnosis, e.g., leukopenia, a highly elevated erythrocyte sedimentation rate, highly elevated serum ferritin levels, elevated antinuclear antibody (ANA) levels, and double-stranded (DS) DNA titers. Her chest x-ray showed an accentuation of basilar lung markings, with a small pleural effusion similar to the chest x-ray findings of early H1N1 pneumonia. Initially, her headaches were thought to be related to central nervous system manifestations of H1N1. After laboratory test results demonstrated elevated ANA and anti-DS DNA titers, she was diagnosed with acute SLE pneumonitis. The take-home lesson for clinicians is that other infectious diseases, e.g., human parainfluenza virus or Legionnaires' disease, can mimic H1N1 pneumonia during an influenza pandemic. Excluding asthma, congestive heart failure, exacerbations of acute bronchitis, chronic obstructive pulmonary disorder, and pulmonary interstitial disease, noninfectious mimics of H1N1 are extremely rare. To the best of our knowledge, this is the first reported case of de novo SLE pneumonitis mimicking H1N1 pneumonia during the swine influenza pandemic. Copyright © 2011 Elsevier Inc. All rights reserved.

Successful treatment of a primary gastric plasmacytoma mimicking intractable gastric ulcer by using high-dose dexamethasone therapy: a case report.

PubMed

Kang, Da-yeong; Kim, Gee-Bum; Choi, Byung-Seok; Seo, Jun-won; Lim, Hyun-Jong; Hong, Ran; Park, Sang-Gon

2016-03-31

Extramedullary plasmacytoma is a plasma cell neoplasm that presents as a solitary lesion in soft tissue. Most extramedullary plasmacytomas involve the nasopharynx or upper respiratory tract. Primary plasmacytoma of the stomach is extremely rare. A 78-year-old Korean woman presented with epigastric pain for 3 months. She had a history of an intractable gastric ulcer despite repeated endoscopic biopsies and appropriate medical therapy for the ulcer. She underwent another endoscopy and a biopsy was performed for multiple large and deep specimens. Ultimately, primary gastric plasmacytoma was confirmed. However, she and her attendant refused standard local radiotherapy or surgical resection. She came to our emergency room 3 months later with hematemesis due to a large gastric ulcer, despite management with medication for over 3 months at a local clinic. We again recommended local radiation or surgical resection. However, as she was willing to undergo only medical therapy, she was prescribed high-dose dexamethasone. Surprisingly, her ulcer completely regressed and remission was maintained for over 1 year. We report successful treatment of a rare primary gastric plasmacytoma mimicking intractable ulcer by using high-dose dexamethasone. To the best of our knowledge, this is the first reported case successfully treated with only high-dose dexamethasone.

SU-F-T-433: Evaluation of a New Dose Mimicking Application for Clinical Flexibility and Reliability

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

Hoffman, D; Nair, C Kumaran; Wright, C

2016-06-15

Purpose: Clinical workflow and machine down time occasionally require patients to be temporarily treated on a system other than the initial treatment machine. A new commercial dose mimicking application provides automated cross-platform treatment planning to expedite this clinical flexibility. The aim of this work is to evaluate the feasibility of automatic plan creation and establish a robust clinical workflow for prostate and pelvis patients. Methods: Five prostate and five pelvis patients treated with helical plans were selected for re-planning with the dose mimicking application, covering both simple and complex scenarios. Two-arc VMAT and 7- and 9-field IMRT plans were generatedmore » for each case, with the objective function of achieving similar dose volume histogram from the initial helical plans. Dosimetric comparisons include target volumes and organs at risk (OARs) (rectum, bladder, small bowel, femoral heads, etc.). Dose mimicked plans were evaluated by a radiation oncologist, and patient-specific QAs were performed to validate delivery. Results: Overall plan generation and transfer required around 30 minutes of dosimetrist’s time once the dose-mimicking protocol is setup for each site. The resulting VMAT and 7- and 9-field IMRT plans achieved equivalent PTV coverage and homogeneity (D99/DRx = 97.3%, 97.2%, 97.2% and HI = 6.0, 5.8, and 5.9, respectively), compared to helical plans (97.6% and 4.6). The OAR dose discrepancies were up to 6% in rectum Dmean, but generally lower in bladder, femoral heads, bowel and penile bulb. In the context of 1–5 fractions, the radiation oncologist evaluated the dosimetric changes as not clinically significant. All delivery QAs achieved >90% pass with a 3%/3mm gamma criteria. Conclusion: The automated dose-mimicking workflow offers a strategy to avoid missing treatment fractions due to machine down time with non-clinically significant changes in dosimetry. Future work will further optimize dose mimicking plans and

Acute Fulminant Uremic Neuropathy Following Coronary Angiography Mimicking Guillain-Barre Syndrome.

PubMed

Priti, Kumari; Ranwa, Bhanwar

2017-01-01

A 55-year-old diabetic woman suffered a posterior wall ST-elevation myocardial infarction. She developed contrast-induced nephropathy following coronary angiography. Acute fulminant uremic neuropathy was precipitated which initially mimicked Guillan-Barre Syndrome, hence reported.

Heparin-mimicking multilayer coating on polymeric membrane via LbL assembly of cyclodextrin-based supramolecules.

PubMed

Deng, Jie; Liu, Xinyue; Ma, Lang; Cheng, Chong; Shi, Wenbin; Nie, Chuanxiong; Zhao, Changsheng

2014-12-10

In this study, multifunctional and heparin-mimicking star-shaped supramolecules-deposited 3D porous multilayer films with improved biocompatibility were fabricated via a layer-by-layer (LbL) self-assembly method on polymeric membrane substrates. Star-shaped heparin-mimicking polyanions (including poly(styrenesulfonate-co-sodium acrylate; Star-PSS-AANa) and poly(styrenesulfonate-co-poly(ethylene glycol)methyl ether methacrylate; Star-PSS-EGMA)) and polycations (poly(methyl chloride-quaternized 2-(dimethylamino)ethyl methacrylate; Star-PMeDMA) were first synthesized by atom transfer radical polymerization (ATRP) from β-cyclodextrin (β-CD) based cores. Then assembly of 3D porous multilayers onto polymeric membrane surfaces was carried out by alternating deposition of the polyanions and polycations via electrostatic interaction. The surface morphology and composition, water contact angle, blood activation, and thrombotic potential as well as cell viability for the coated heparin-mimicking films were systematically investigated. The results of surface ATR-FTIR spectra and XPS spectra verified successful deposition of the star-shaped supramolecules onto the biomedical membrane surfaces; scanning electron microscopy (SEM) and atomic force microscopy (AFM) observations revealed that the modified substrate had 3D porous surface morphology, which might have a great biological influence on the biointerface. Furthermore, systematic in vitro investigation of protein adsorption, platelet adhesion, human platelet factor 4 (PF4, indicates platelet activation), activate partial thromboplastin time (APTT), thrombin time (TT), coagulation activation (thrombin-antithrombin III complex (TAT, indicates blood coagulant)), and blood-related complement activation (C3a and C5a, indicates inflammation potential) confirmed that the heparin-mimicking multilayer coated membranes exhibited ultralow blood component activations and excellent hemocompatibility. Meanwhile, after surface coating

Challenging symptoms in children with rare life-limiting conditions: findings from a prospective diary and interview study with families.

PubMed

Malcolm, C; Hain, R; Gibson, F; Adams, S; Anderson, G; Forbat, L

2012-09-01

The aim was to describe the nature, frequency, severity and management challenges of symptoms in children with two rare life-limiting conditions [Mucopolysaccharide (MPS) and Batten disease]. This was an embedded mixed-method study set in the UK between 2009 and 2011. Twenty-six children from 23 families took part. Seventeen children had an MPS condition [MPS III (Sanfilippo) n = 15; MPS I (Hurler) n = 1; MPS IVA (Morquio); n = 1]. Nine children had Batten disease. Prospective data relating to symptoms were collected over 8 weeks using a symptom diary, and qualitative retrospective interviews with families were conducted. Main outcome measures included frequency, severity rating and identification of most challenging symptoms to manage. The most common and severe symptoms in MPS III were agitation, repetitive behaviours, hyperactivity and disturbed sleep, and in Batten disease were agitation, joint stiffness, secretions, and disturbed sleep. The data highlighted the high prevalence of behavioural symptoms. Distress caused to families by symptoms was not related simply to their occurrence, but to difficulty in management, likelihood of control and extent to which they signalled disease progression and decline. In challenging contrast to the dominant biomedical framing of these rare conditions it was behavioural symptoms, rather than the physical ones, that families documented as most frequent, severe and challenging to manage. The diary developed for this study has potential use in aiding parents and clinicians to document and communicate concerns about symptoms. © 2012 The Author(s)/Acta Paediatrica © 2012 Foundation Acta Paediatrica.

Gossypiboma Mimicking as Dermoid Cyst of Ovary: A Case Report

PubMed Central

Hakim, Seema; Sabzposh, Noor Afshan; Noor, Nasreen

2015-01-01

Gossypiboma is a rare condition caused by retained postoperative foreign bodies. The condition is under reported because of diagnostic difficulties and medicolegal implications associated with it. It may mimic a benign or malignant soft-tissue tumour in the abdomen and pelvis. A 22-year-old woman presented with non specific symptoms and was referred to us with radiological diagnosis of dermoid cyst. On laparotomy the mass was proved to be a gossypiboma resulted from gauze which was retained in caesarean section done two years back. Although gossypiboma is rarely seen in daily clinical practice, it should be considered in the differential diagnosis of postoperative patients presenting with non specific complains and lump abdomen. Despite thorough history, physical examination, laboratory, and radiographical findings, usually gossypibomas are not suspected and remain an accidental finding. Employment of all preventive measures during surgical procedures and high index of suspicion in post operative patients are the key stones in its management. PMID:25954669

Metastatic gastric carcinoma from breast cancer mimicking primary linitis plastica: A case report.

PubMed

Yagi, Yasumichi; Sasaki, Shozo; Yoshikawa, Akemi; Tsukioka, Yuji; Fukushima, Wataru; Fujimura, Takashi; Hirosawa, Hisashi; Izumi, Ryohei; Saito, Katsuhiko

2015-12-01

Metastases to the gastrointestinal tract rarely occur in breast cancer except in invasive lobular carcinoma. The present study reports a rare case of metastatic gastric cancer from invasive ductal carcinoma (IDC) of the breast mimicking primary gastric linitis plastica. A 51-year-old premenopausal female, who had a history of partial mastectomy for right breast cancer at the age of 40, was referred to Toyama City Hospital (Toyoma, Japan) for an endoscopic diagnosis of gastric linitis plastica. Abdominal computed tomography (CT) revealed left hydronephrosis, while peritoneal metastasis and malignant ascites were not detected. Chest CT detected a left lung tumor, which had invaded the left upper bronchus. Biopsy specimens were obtained and the histopathological findings on both the gastric tumor and lung tumor demonstrated poorly differentiated adenocarcinoma, whereas the histology of the original breast cancer was IDC with a solid-tubular type. Immunohistochemistry revealed that the biopsied specimens of the gastric and lung tumors were positive for estrogen receptor (ER), progesterone receptor (PgR) and negative for human epithelial growth factor receptor-2 (HER2). These molecular characteristics indicated the case was metastatic gastric carcinoma from the breast cancer with lung metastasis, since the statuses of ER, PgR and HER2 were concordant with those of the original breast cancer. However, the possibility of primary gastric cancer could not be completely ruled out. Therefore, a total gastrectomy was performed for the purpose of both diagnosis and treatment. Pathological examination of the resected specimen provided a definite diagnosis of multiple metastatic gastric carcinomas from the breast. To the best of our knowledge, metastatic gastric cancer derived from the breast presenting as linitis plastica 11 years following the surgical removal of IDC has not been described previously.

Demodex folliculitis mimicking acute graft-vs-host disease.

PubMed

Cotliar, Jonathan; Frankfurt, Olga

2013-12-01

Acute graft-vs-host disease (GVHD) typically requires high-dose systemic steroids as first-line treatment. Like drug eruptions, viral exanthema, and toxic erythema of chemotherapy, Demodex folliculitis is a clinical mimicker of acute GVHD and requires nonimmunosuppressive therapy. This case of Demodex folliculitis mimicking acute GVHD highlights the need for skin biopsy in patients who have undergone a stem cell transplant with eruptions on the head and neck. A 46-year-old white woman with a history of Fms-like tyrosine kinase 3 acute myeloid leukemia presented to the dermatology clinic with a 5-day history of a nonpruritic eruption on her face and neck 28 days after undergoing a double umbilical cord blood hematopoietic stem cell transplant (HSCT). Findings from the skin biopsy demonstrated a deep dermal lymphocytic infiltrate adjacent to follicular units along with an abundance of Demodex mites noted within the hair follicles consistent with Demodex folliculitis. Oral ivermectin, 12 mg, was given, and the eruption cleared within 24 hours. To our knowledge, this is only the fifth reported case of Demodex folliculitis following HSCT, but the first ever reported to be successfully treated with oral ivermectin. Demodex folliculitis should be added to the differential diagnosis of skin eruptions that arise after HSCT.

Acute Fulminant Uremic Neuropathy Following Coronary Angiography Mimicking Guillain–Barre Syndrome

PubMed Central

Priti, Kumari; Ranwa, Bhanwar

2017-01-01

A 55-year-old diabetic woman suffered a posterior wall ST-elevation myocardial infarction. She developed contrast-induced nephropathy following coronary angiography. Acute fulminant uremic neuropathy was precipitated which initially mimicked Guillan–Barre Syndrome, hence reported. PMID:28706599

Osteomalacia with low alkaline phosphatase: a not so rare condition with important consequences.

PubMed

Belkhouribchia, Jamal; Bravenboer, Bert; Meuwissen, Marije; Velkeniers, Brigitte

2016-01-28

Hypophosphatasia is a genetic disorder, characterised by a dysfunctional tissue-non-specific isoenzyme of alkaline phosphatase that impacts bone metabolism and predisposes to osteomalacia or rickets. The clinical presentation is very diverse, depending on the age of onset and the severity of the disease. Several forms of hypophosphatasia are recognised. We present a case of a 50-year-old woman with low impact fractures and loss of teeth at a young age. She also had a low alkaline phosphatase and was diagnosed with adult hypophosphatasia. Although the severe forms of hypophosphatasia are rather rare, the adult form is thought to occur quite frequently. As this condition is not well known by healthcare professionals, the time to diagnosis and initiation of adequate treatment is often postponed. When encountering a patient with low alkaline phosphatase, low bone density or a history of bone fractures, the possibility of hypophosphatasia should be considered. 2016 BMJ Publishing Group Ltd.

Subdural Hematoma Mimickers: A Systematic Review.

PubMed

Catana, Dragos; Koziarz, Alex; Cenic, Aleksa; Nath, Siddharth; Singh, Sheila; Almenawer, Saleh A; Kachur, Edward

2016-09-01

A variety of subdural pathologies that may mimic hematomas are reported in the literature. We aimed to identify the atypical clinical and radiologic presentations of subdural masses that may mimic subdural hematomas. A systematic review of MEDLINE and Embase was conducted independently by 2 reviewers to identify articles describing subdural hematoma mimickers. We also present a patient from our institution with a subdural pathology mimicking a subdural hematoma. We analyzed patient clinical presentations, underlying pathologies, radiologic findings, and clinical outcomes. We included 43 articles totaling 48 patients. The mean ± SD patient age was 55.7 ± 16.8 years. Of the 45 cases describing patient history, 13 patients (27%) had a history of trauma. The underlying pathologies of the 48 subdural collections were 10 metastasis (21%), 14 lymphoma (29%), 7 sarcoma (15%), 4 infectious (8%), 4 autoimmune (8%), and 9 miscellaneous (19%). Findings on computed tomography (CT) scan were 18 hyperdense (41%), 11 hypodense (25%), 9 isodense (20%), 3 isodense/hyperdense (7%), and 3 hypodense/isodense (7%). Thirty-four patients (71%) were treated surgically; among these patients, 65% had symptom resolution. Neither the pathology (P = 0.337) nor the management strategy (P = 0.671) was correlated with improved functional outcomes. Identification of atypical history and radiologic features should prompt further diagnostic tests, including magnetic resonance imaging (MRI), to elucidate the proper diagnosis, given that certain pathologies may be managed nonsurgically. A subdural collection that is hyperdense on CT scan and hyperintense on T2-weighted MRI, along with a history of progressive headache with no trauma, may raise the suspicion of an atypical subdural pathology. Copyright © 2016 Elsevier Inc. All rights reserved.

Neoplastic stomach lesions and their mimickers: spectrum of imaging manifestations

PubMed Central

Virmani, Vivek; Sethi, Vineeta; Fraser-Hill, Margret; Fasih, Najla; Kielar, Ania

2012-01-01

Abstract This review illustrates a wide spectrum of gastric neoplasms with emphasis on imaging findings helpful in characterizing various gastric neoplasms. Both the malignant and benign neoplasms along with focal gastric masses mimicking tumour are illustrated. Moreover, imaging clues to reach an accurate diagnosis are emphasized. PMID:22935192

Post-pancreatitis Fat Necrosis Mimicking Carcinomatosis.

PubMed

Smith, Joshua P; Arnoletti, J Pablo; Varadarajulu, Shyam; Morgan, Desiree E

2008-01-01

Acute pancreatitis can result in retroperitoneal fat necrosis, typically occurring in the peripancreatic region, with extension into the transverse mesocolon, omentum and mesenteric root. When evaluated with contrast enhanced computed tomography (CECT), acute peripancreatic post necrotic collections typically become lower in attenuation over time, and often appear as homogeneous fluid collections. Saponification as a complication of fat necrosis in patients with acute pancreatitis is a well recognized clinical entity. While retroperitonal fat necrosis is commonly seen on CECT, saponification is not a prominent imaging feature. We present a case of acute pancreatitis complicated by extensive saponification of fat throughout the retroperitoneum and peritoneal lining, mimicking carcinomatosis.

Cogan's syndrome mimicking acute Lyme arthritis.

PubMed

Schwegmann, J P; Enzenauer, R J

1995-05-01

A pediatric case of Cogan's syndrome mimicking acute Lyme arthritis is described. A 12-year-old black boy was admitted to the pediatric service for presumed right knee septic arthritis. Symptoms included acute pain and swelling with decreased range-of-motion. Although the patient's right knee symptoms and positive Lyme serology were consistent with a diagnosis of Lyme arthritis, the presence of sensorineural hearing loss and interstitial keratitis with inflammatory arthritis suggested a diagnosis of Cogan's syndrome. Subsequent Western blot analysis was negative for Borrelia burgdorferi antigens. The patient had dramatic clinical improvement of musculoskeletal and ophthalmologic complaints shortly after receiving high-dose corticosteroids, although residual sensorineural hearing loss persisted.

Genetic profiling of a rare condition: co-occurrence of albinism and multiple primary melanoma in a caucasian family

PubMed Central

Tommasi, Stefania; Strippoli, Sabino; Pellegrini, Cristina; Concetta Fargnoli, Maria; Pilato, Brunella; Natalicchio, Iole; Guida, Gabriella; Pinto, Rosamaria

2017-01-01

Multiple primary melanoma (MPM) is a rare condition, whose genetic basis has not yet been clarified. Only 8-12% of MPM are due to germline mutations of CDKN2A. However, other genes (POT1, BRCA1/2, MC1R, MGMT) have been demonstrated to be involved in predisposition to this pathology. To our knowledge, this is the first family study based on two siblings with the rare coexistence of MPM and oculocutaneous albinism (OCA), an autosomal recessive disease characterized by the absence or decrease in pigmentation in the skin, hair, and eyes. In this study, we evaluated genes involved in melanoma predisposition (CDKN2A, CDK4, MC1R, MITF, POT1, RB1, MGMT, BRCA1, BRCA2), pathogenesis (BRAF, NRAS, PIK3CA, KIT, PTEN), skin/hair pigmentation (MC1R, MITF) and in immune pathways (CTLA4) to individuate alterations able to explain the rare onset of MPM and OCA in indexes and the transmission in their pedigree. From the analysis of the pedigree, we were able to identify a “protective” haplotype with respect to MPM, including MGMT p.I174V alteration. The second generation offspring is under strict follow up as some of them have a higher risk of developing MPM according to our model. PMID:27776349

Being Mimicked Increases Prosocial Behavior in 18-Month-Old Infants

ERIC Educational Resources Information Center

Carpenter, Malinda; Uebel, Johanna; Tomasello, Michael

2013-01-01

Most previous research on imitation in infancy has focused on infants' learning of instrumental actions on objects. This study focused instead on the more social side of imitation, testing whether being mimicked increases prosocial behavior in infants, as it does in adults (van Baaren, Holland, Kawakami, & van Knippenberg, 2004).…

Sensing and enumerating rare circulating cells with diffuse light

NASA Astrophysics Data System (ADS)

Zettergren, Eric; Vickers, Dwayne; Niedre, Mark

2011-02-01

Detection and quantification of circulating cells in live animals is a challenging and important problem in many areas of biomedical research. Current methods involve extraction of blood samples and counting of cells ex-vivo. Since only small blood volumes are analyzed at specific time points, monitoring of changes in cell populations over time is difficult and rare cells often escape detection. The goal of this research is to develop a method for enumerating very rare circulating cells in the bloodstream non-invasively. This would have many applications in biomedical research, including monitoring of cancer metastasis and tracking of hematopoietic stem cells. In this work we describe the optical configuration of our instrument which allows fluorescence detection of single cells in diffusive media at the mesoscopic scale. Our instrument design consists of two continuous wave laser diode sources and an 8-channel fiber coupled multi-anode photon counting PMT. Fluorescence detector fibers were arranged circularly around the target in a miniaturized ring configuration. Cell-simulating fluorescent microspheres and fluorescently-labeled cells were passed through a limb mimicking phantom with similar optical properties and background fluorescence as a limb of a mouse. Our data shows that we are able to successfully detect and count these with high quantitative accuracy. Future work includes characterization of our instrument using fluorescently labeled cells in-vivo. If successful, this technique would allow several orders of magnitude in vivo detection sensitivity improvement versus current approaches.

Verrucous Lichen Planus: A Rare Presentation of a Common Condition

PubMed Central

Audhya, Moutusi; Varughese, Jenny S.; Nakhwa, Yuti C.

2014-01-01

Lichen planus is a chronic papulosquamous dermatoses in which both skin and mucosae are involved. There are various morphological forms of lichen planus. Hypertrophic lichen planus is one of the rare clinical variants. Herein, we report a very unusual presentation of hypertrophic lichen planus. A similar presentation has not been reported in literature yet, to the best of our knowledge. PMID:25386324

Enhanced pinning in mixed rare earth-123 films

DOEpatents

Driscoll, Judith L [Los Alamos, NM; Foltyn, Stephen R [Los Alamos, NM

2009-06-16

An superconductive article and method of forming such an article is disclosed, the article including a substrate and a layer of a rare earth barium cuprate film upon the substrate, the rare earth barium cuprate film including two or more rare earth metals capable of yielding a superconductive composition where ion size variance between the two or more rare earth metals is characterized as greater than zero and less than about 10.times.10.sup.-4, and the rare earth barium cuprate film including two or more rare earth metals is further characterized as having an enhanced critical current density in comparison to a standard YBa.sub.2Cu.sub.3O.sub.y composition under identical testing conditions.

Mimicking the Moon

NASA Image and Video Library

2014-11-03

When Galileo first observed Venus displaying a crescent phase, he excitedly wrote to Kepler (in anagram) of Venus mimicking the moon-goddess. He would have been delirious with joy to see Saturn and Titan, seen in this image, doing the same thing. More than just pretty pictures, high-phase observations -- taken looking generally toward the Sun, as in this image -- are very powerful scientifically since the way atmospheres and rings transmit sunlight is often diagnostic of compositions and physical states. In this example, Titan's crescent nearly encircles its disk due to the small haze particles high in its atmosphere refracting the incoming light of the distant Sun. This view looks toward the sunlit side of the rings from about 3 degrees above the ringplane. The image was taken in violet light with the Cassini spacecraft wide-angle camera on Aug. 11, 2013. The view was obtained at a distance of approximately 1.1 million miles (1.7 million kilometers) from Saturn and at a Sun-Saturn-spacecraft, or phase, angle of 154 degrees. Image scale is 64 miles (103 kilometers) per pixel. http://photojournal.jpl.nasa.gov/catalog/PIA18291

The cutaneous manifestations and common mimickers of physical child abuse.

PubMed

Mudd, Shawna S; Findlay, Jeanne S

2004-01-01

The cutaneous manifestations of physical child abuse are some of the most common and easily recognized forms of injury. To make an accurate assessment and diagnosis, it is important to differentiate between inflicted cutaneous injuries and mimickers of physical abuse. Likewise, an understanding of reporting guidelines helps guide practitioners in their decision making.

Imaging of Posttraumatic Arthritis, Avascular Necrosis, Septic Arthritis, Complex Regional Pain Syndrome, and Cancer Mimicking Arthritis.

PubMed

Rupasov, Andrey; Cain, Usa; Montoya, Simone; Blickman, Johan G

2017-09-01

This article focuses on the imaging of 5 discrete entities with a common end result of disability: posttraumatic arthritis, a common form of secondary osteoarthritis that results from a prior insult to the joint; avascular necrosis, a disease of impaired osseous blood flow, leading to cellular death and subsequent osseous collapse; septic arthritis, an infectious process leading to destructive changes within the joint; complex regional pain syndrome, a chronic limb-confined painful condition arising after injury; and cases of cancer mimicking arthritis, in which the initial findings seem to represent arthritis, despite a more insidious cause. Copyright © 2017 Elsevier Inc. All rights reserved.

Autoimmune pancreatitis associated with renal lesions mimicking metastatic tumours

PubMed Central

Rudmik, Lucas; Trpkov, Kiril; Nash, Carla; Kinnear, Susan; Falck, Vincent; Dushinski, John; Dixon, Elijah

2006-01-01

Autoimmune pancreatitis is a chronic inflammatory disorder that is often misdiagnosed as pancreatic cancer. Since autoimmune pancreatitis is benign and responds to steroid management, it is important to diagnose it to avoid unnecessary surgical intervention. We describe a novel case of IgG4-associated autoimmune pancreatitis presenting with tubulointerstitial nephritis as renal lesions mimicking metastatic tumours but with no change in renal function. PMID:16908897

Spinal schwannomatosis in the absence of neurofibromatosis: A very rare condition

PubMed Central

Landi, A.; Dugoni, D.E.; Marotta, N.; Mancarella, C.; Delfini, R.

2010-01-01

Schwannomatosis is defined as an extremely rare tumors syndrome characterized by the presence of multiple schwannomas in the absence of typical signs of NF1 and NF2 syndromes. The genetic and molecular analysis performed on these tumors makes it possible to name schwannomatosis as distinct clinical and genetic syndrome. The treatment in the case of symptomatic lesions is surgical removal; if the lesions are asymptomatic it is better to perform serial MRI studies. Given the high incidence of developing additional lesions in patients with schwannomatosis, it remains imperative to perform serial brain and spinal cord MRI studies during follow-up. The differential diagnosis is important including clinical and radiological criteria plus molecular genetic analysis of tumor cells and lymphocyte DNA. We report a rare case of spinal schwannomatosis in which genetic analysis performed on surgical samples showed two different mutations in the cells of the two lesions. PMID:22096683

Spinal schwannomatosis in the absence of neurofibromatosis: A very rare condition.

PubMed

Landi, A; Dugoni, D E; Marotta, N; Mancarella, C; Delfini, R

2011-01-01

Schwannomatosis is defined as an extremely rare tumors syndrome characterized by the presence of multiple schwannomas in the absence of typical signs of NF1 and NF2 syndromes. The genetic and molecular analysis performed on these tumors makes it possible to name schwannomatosis as distinct clinical and genetic syndrome. The treatment in the case of symptomatic lesions is surgical removal; if the lesions are asymptomatic it is better to perform serial MRI studies. Given the high incidence of developing additional lesions in patients with schwannomatosis, it remains imperative to perform serial brain and spinal cord MRI studies during follow-up. The differential diagnosis is important including clinical and radiological criteria plus molecular genetic analysis of tumor cells and lymphocyte DNA. We report a rare case of spinal schwannomatosis in which genetic analysis performed on surgical samples showed two different mutations in the cells of the two lesions.

Ainhum - A Rare Case Report.

PubMed

Prabhu, Ravi; Kannan, Narayanasamy Subbaraju; Vinoth, Sundaresan; Praveen, Chinnappan Balasubramanian

2016-04-01

The term 'AINHUM' is derived from the African word meaning 'to saw or cut'. True ainhum otherwise called dactylolysis spontanea is a condition involving soft tissue or digits with constricting rings commonly presenting in fifth toes, usually bilateral. It is to be differentiated from Pseudo-ainhum that occurs secondary to some hereditary and nonhereditary diseases that lead to annular constriction of digits. We report a rare case of true ainhum involving the left fourth toe only. It is a very rare case and a very few were reported worldwide. The highest incidence of ainhum has been reported in South Africa and South America. It is rarely reported in India. Ainhum when diagnosed and treated in early stages can be prevented from progressing to mutilating deformities.

Programmable Control in Extracellular Matrix-mimicking Polymer Hydrogels.

PubMed

Hof, Kevin S; Bastings, Maartje M C

2017-06-28

The extracellular matrix (ECM) and cells have a reciprocal relationship, one shapes the other and vice versa. One of the main challenges of synthetic material systems for developmental cell culturing, organoid and stem cell work includes the implementation of this reciprocal nature. The largest hurdle to achieve true cell-instructive materials in biomaterials engineering is a lack of spatial and temporal control over material properties and the display of bioactive signals compared to the natural cell environment. ECM-mimicking hydrogels have been developed using a wide range of polymers, assembly and cross-linking strategies. While our synthetic toolbox is larger than nature, often our systems underperform when compared to ECM systems with natural components like Matrigel. Material properties and three-dimensional structure ill-represent the three-dimensional ECM reciprocal nature and ligand presentation is an oversimplified version of the complexity found in nature. We hypothesize that the lack of programmable control in properties and ligand presentation forms the basis of this mismatch in performance and analyze the presence of control in current state of the art ECM-mimicking systems based on covalent, supramolecular and recombinant polymers. We conclude that through combining the dynamics of supramolecular materials, robustness from covalent systems and the programmable spatial control of bio-activation in recombinant ECM materials, the optimal synthetic artificial ECM could be assembled.

A conditional approach to determining the effect of anthropogenic climate change on very rare events.

NASA Astrophysics Data System (ADS)

Wehner, Michael; Pall, Pardeep; Zarzycki, Colin; Stone, Daithi

2016-04-01

Probabilistic extreme event attribution is especially difficult for weather events that are caused by extremely rare large-scale meteorological patterns. Traditional modeling techniques have involved using ensembles of climate models, either fully coupled or with prescribed ocean and sea ice. Ensemble sizes for the latter case ranges from several 100 to tens of thousand. However, even if the simulations are constrained by the observed ocean state, the requisite large-scale meteorological pattern may not occur frequently enough or even at all in free running climate model simulations. We present a method to ensure that simulated events similar to the observed event are modeled with enough fidelity that robust statistics can be determined given the large scale meteorological conditions. By initializing suitably constrained short term ensemble hindcasts of both the actual weather system and a counterfactual weather system where the human interference in the climate system is removed, the human contribution to the magnitude of the event can be determined. However, the change (if any) in the probability of an event of the observed magnitude is conditional not only on the state of the ocean/sea ice system but also on the prescribed initial conditions determined by the causal large scale meteorological pattern. We will discuss the implications of this technique through two examples; the 2013 Colorado flood and the 2014 Typhoon Haiyan.

Multi-species attributes as the condition for adaptive sampling of rare species using two-stage sequential sampling with an auxiliary variable

USGS Publications Warehouse

Panahbehagh, B.; Smith, D.R.; Salehi, M.M.; Hornbach, D.J.; Brown, D.J.; Chan, F.; Marinova, D.; Anderssen, R.S.

2011-01-01

Assessing populations of rare species is challenging because of the large effort required to locate patches of occupied habitat and achieve precise estimates of density and abundance. The presence of a rare species has been shown to be correlated with presence or abundance of more common species. Thus, ecological community richness or abundance can be used to inform sampling of rare species. Adaptive sampling designs have been developed specifically for rare and clustered populations and have been applied to a wide range of rare species. However, adaptive sampling can be logistically challenging, in part, because variation in final sample size introduces uncertainty in survey planning. Two-stage sequential sampling (TSS), a recently developed design, allows for adaptive sampling, but avoids edge units and has an upper bound on final sample size. In this paper we present an extension of two-stage sequential sampling that incorporates an auxiliary variable (TSSAV), such as community attributes, as the condition for adaptive sampling. We develop a set of simulations to approximate sampling of endangered freshwater mussels to evaluate the performance of the TSSAV design. The performance measures that we are interested in are efficiency and probability of sampling a unit occupied by the rare species. Efficiency measures the precision of population estimate from the TSSAV design relative to a standard design, such as simple random sampling (SRS). The simulations indicate that the density and distribution of the auxiliary population is the most important determinant of the performance of the TSSAV design. Of the design factors, such as sample size, the fraction of the primary units sampled was most important. For the best scenarios, the odds of sampling the rare species was approximately 1.5 times higher for TSSAV compared to SRS and efficiency was as high as 2 (i.e., variance from TSSAV was half that of SRS). We have found that design performance, especially for adaptive

Orthokeratinised odontogenic cyst mimicking periapical cyst

PubMed Central

Rajalakshmi, R; Sreeja, C; Vijayalakshmi, D; Leelarani, V

2013-01-01

Orthokeratinised odontogenic cyst (OOC) denotes the odontogenic cyst that microscopically has an orthokeratinised epithelial lining. OOC is characterised by a less-aggressive behaviour and a low rate of recurrence. This report describes a case of OOC involving posterior part of the mandible that mimicked periapical cyst in a 14-year-old boy. The initial clinical diagnosis was given as periapical cyst based on the clinical and radiographical features. Enucleation of the cyst was performed and the specimen was sent for histopathological examination. A definite diagnosis of OOC was made by histopathological examination of the biopsy specimen. This case emphases on including OOC in the differential diagnosis of radiolucencies occurring in the periapical region of non-vital tooth. PMID:24099763

Orthokeratinised odontogenic cyst mimicking periapical cyst.

PubMed

Rajalakshmi, R; Sreeja, C; Vijayalakshmi, D; Leelarani, V

2013-10-07

Orthokeratinised odontogenic cyst (OOC) denotes the odontogenic cyst that microscopically has an orthokeratinised epithelial lining. OOC is characterised by a less-aggressive behaviour and a low rate of recurrence. This report describes a case of OOC involving posterior part of the mandible that mimicked periapical cyst in a 14-year-old boy. The initial clinical diagnosis was given as periapical cyst based on the clinical and radiographical features. Enucleation of the cyst was performed and the specimen was sent for histopathological examination. A definite diagnosis of OOC was made by histopathological examination of the biopsy specimen. This case emphases on including OOC in the differential diagnosis of radiolucencies occurring in the periapical region of non-vital tooth.

An Adolescent Case of Citrin Deficiency With Severe Anorexia Mimicking Anorexia Nervosa.

PubMed

Takeuchi, Satsuki; Yazaki, Masahide; Yamada, Shinji; Fukuyama, Tetsuhiro; Inui, Akio; Iwasaki, Yasushi; Ikeda, Shu-ichi

2015-08-01

We report a 12-year-old female citrin-deficient patient presenting with severe anorexia and body weight loss, mimicking the restricting type of anorexia nervosa (AN). She showed normal development until age 10 years when she started to play volleyball at school. She then became gradually anorexic, and her growth was stunted. At age 12, she was admitted to hospital because of severe anorexia and thinness. She was first thought to have AN, and drip infusion of glucose solution and high-calorie drinks were given, but her condition deteriorated further. She had a history of neonatal hepatitis and was therefore suspected to have citrin deficiency (CD). Genetic analysis of SLC25A13 revealed that she was compound heterozygous for 851del4 and IVS16ins3kb, and a diagnosis of CD was made. A low-carbohydrate diet with oral intake of arginine and ursodeoxycholic acid was started, and her condition gradually improved. The clinical features in our patient were similar to those of AN, and therefore AN may also be an important clinical sign in adolescent patients with CD. Copyright © 2015 by the American Academy of Pediatrics.

Cartilage Delamination Flap Mimicking a Torn Medial Meniscus

PubMed Central

Bin Abd Razak, Hamid Rahmatullah; Amit Kanta, Mitra

2016-01-01

We report a case of a chondral delamination lesion due to medial parapatellar plica friction syndrome involving the medial femoral condyle. This mimicked a torn medial meniscus in clinical and radiological presentation. Arthroscopy revealed a chondral delamination flap, which was debrided. Diagnosis of chondral lesions in the knee can be challenging. Clinical examination and MRI have good accuracy for diagnosis and should be used in tandem. Early diagnosis and treatment of chondral lesions are important to prevent progression to early osteoarthritis. PMID:28070434

Floating retained root lesion mimicking apical periodontitis.

PubMed

Chung, Ming-Pang; Chen, Chih-Ping; Shieh, Yi-Shing

2009-10-01

A case of a retained root tip simulating apical periodontitis on radiographic examination is described. The retained root tip, originating from the left lower first molar, floated under the left lower second premolar apical region mimicking apical periodontitis. It appeared as an ill-defined periapical radiolucency containing a smaller radiodense mass on radiograph. The differential diagnosis included focal sclerosing osteomyelitis (condensing osteitis) and ossifying fibroma. Upon exicisional biopsy, a retained root associated with granulation tissue was found. After 1-year follow-up, the patient was asymptomatic and the periradicular lesion was healing. Meanwhile, the associated tooth showed a normal response to stimulation testing.

Electrochemically controlled drug-mimicking protein release from iron-alginate thin-films associated with an electrode.

PubMed

Jin, Zhiyuan; Güven, Güray; Bocharova, Vera; Halámek, Jan; Tokarev, Ihor; Minko, Sergiy; Melman, Artem; Mandler, Daniel; Katz, Evgeny

2012-01-01

Novel biocompatible hybrid-material composed of iron-ion-cross-linked alginate with embedded protein molecules has been designed for the signal-triggered drug release. Electrochemically controlled oxidation of Fe(2+) ions in the presence of soluble natural alginate polymer and drug-mimicking protein (bovine serum albumin, BSA) results in the formation of an alginate-based thin-film cross-linked by Fe(3+) ions at the electrode interface with the entrapped protein. The electrochemically generated composite thin-film was characterized by electrochemistry and atomic force microscopy (AFM). Preliminary experiments demonstrated that the electrochemically controlled deposition of the protein-containing thin-film can be performed at microscale using scanning electrochemical microscopy (SECM) as the deposition tool producing polymer-patterned spots potentially containing various entrapped drugs. Application of reductive potentials on the modified electrode produced Fe(2+) cations which do not keep complexation with alginate, thus resulting in the electrochemically triggered thin-film dissolution and the protein release. Different experimental parameters, such as the film-deposition time, concentrations of compounds and applied potentials, were varied in order to demonstrate that the electrodepositon and electrodissolution of the alginate composite film can be tuned to the optimum performance. A statistical modeling technique was applied to find optimal conditions for the formation of the composite thin-film for the maximal encapsulation and release of the drug-mimicking protein at the lowest possible potential. © 2011 American Chemical Society

Severe neutropenia revealing a rare presentation of dengue fever: a case report.

PubMed

Shourick, J; Dinh, A; Matt, M; Salomon, J; Davido, B

2017-08-17

Arboviruses are a common cause of fever in the returned traveler often associated with leucopenia, especially lymphopenia and thrombocytopenia. Transient neutropenia has been described in a few cases of arboviruses. However, prolonged and severe neutropenia (<500/mm 3 ) has rarely been reported in dengue fever, especially in the returned traveler in Europe. A 26-year-old healthy female without any medical past history, flying back from Thailand, presented a transient fever with severe neutropenia (<500/mm 3 ). Laboratory tests showed a mild hepatic cytolysis and thrombocytopenia, mimicking malaria or viral hepatitis. While she underwent protective isolation, NS1 antigen returned positive in favor of a dengue fever. Outcome was favorable without any antimicrobial therapy. Physicians should be wary of possible unusual presentation of dengue fever with prolonged neutropenia. Although such biological sign is more often associated with malaria or severe bacterial infection, it may be a sign of arbovirus.

A theoretical and experimental investigation of nonlinear propagation of ultrasound through tissue mimicking media

NASA Astrophysics Data System (ADS)

Rielly, Matthew Robert

An existing numerical model (known as the Bergen code) is used to investigate finite amplitude ultrasound propagation through multiple layers of tissue-like media. This model uses a finite difference method to solve the nonlinear parabolic KZK wave equation. The code is modified to include an arbitrary frequency dependence of absorption and transmission effects for wave propagation across a plane interface at normal incidence. In addition the code is adapted to calculate the total intensity loss associated with the absorption of the fundamental and nonlinearly generated harmonics. Measurements are also taken of the axial nonlinear pressure field generated from a circular focused, 2.25 MHz source, through single and multiple layered tissue mimicking fluids, for source pressures in the range from 13 kPa to 310 kPa. Two tissue mimicking fluids are developed to provide acoustic properties similar to amniotic fluid and a typical soft tissue. The values of the nonlinearity parameter, sound velocity and frequency dependence of attenuation for both fluids are presented, and the measurement procedures employed to obtain these characteristics are described in detail. These acoustic parameters, together with the measured source conditions are used as input to the numerical model, allowing the experimental conditions to be simulated. Extensive comparisons are made between the model's predictions and the axial pressure field measurements. Results are presented in the frequency domain showing the fundamental and three subsequent harmonic amplitudes on axis, as a function of axial distance. These show that significant nonlinear distortion can occur through media with characteristics typical of tissue. Time domain waveform comparisons are also made. An excellent agreement is found between theory and experiment indicating that the model can be used to predict nonlinear ultrasound propagation through multiple layers of tissue-like media. The numerical code is also used to model the

Primary Pancreatic Head Tuberculosis: Great Masquerader of Pancreatic Adenocarcinoma

PubMed Central

Gupta, Dhaval; Patel, Jatin; Rathi, Chetan; Ingle, Meghraj; Sawant, Prabha

2015-01-01

Isolated pancreatic tuberculosis (TB) is considered an extremely rare condition, even in the developing countries. Most reported cases of pancreatic TB are diagnosed after exploratory laparotomy or autopsy. Pancreatic TB is a potential mimic of invasive pancreatic malignancy and the presence of vascular invasion does not distinguish one condition from the other. Every effort should be made for the earliest diagnosis of this condition as TB is a treatable condition and it avoids unnecessary management of pancreatic carcinoma. Here we report a rare case of primary pancreatic head TB in a 58-year-old male who presented with hypodense lesion in head of pancreas with double duct sign and portal vein invasion mimicking non-resectable pancreatic carcinoma. PMID:27785295

Spinal cord compression in a patient with a pain pump for failed back syndrome: a chalk-like precipitate mimicking a spinal cord neoplasm: case report.

PubMed

Wadhwa, Rishi K; Shaya, Mark R; Nanda, Anil

2006-02-01

The use of intrathecal morphine has been effective with few complications for chronic intractable pain of both benign and malignant origins. A rare but serious problem that exists is the formation of an inflammatory mass at the catheter tip of the pain pump. We report the case of a 67-year-old female patient with failed back syndrome who presented with sensory complaints and back pain. Magnetic resonance imaging revealed impingement on the thoracic cord by a mass. The mass was originally thought to be a spinal cord tumor; however, operation and chemical analysis of the mass showed that it was a bupivacaine precipitate at the tip of the catheter of the pain pump. This is the first such case, to our knowledge, of a bupivacaine precipitate mimicking a spinal cord tumor.

Structure-Based Design of Inhibitors of Protein–Protein Interactions: Mimicking Peptide Binding Epitopes

PubMed Central

Pelay-Gimeno, Marta; Glas, Adrian; Koch, Oliver; Grossmann, Tom N

2015-01-01

Protein–protein interactions (PPIs) are involved at all levels of cellular organization, thus making the development of PPI inhibitors extremely valuable. The identification of selective inhibitors is challenging because of the shallow and extended nature of PPI interfaces. Inhibitors can be obtained by mimicking peptide binding epitopes in their bioactive conformation. For this purpose, several strategies have been evolved to enable a projection of side chain functionalities in analogy to peptide secondary structures, thereby yielding molecules that are generally referred to as peptidomimetics. Herein, we introduce a new classification of peptidomimetics (classes A–D) that enables a clear assignment of available approaches. Based on this classification, the Review summarizes strategies that have been applied for the structure-based design of PPI inhibitors through stabilizing or mimicking turns, β-sheets, and helices. PMID:26119925

Rare Cancers Europe (RCE) methodological recommendations for clinical studies in rare cancers: a European consensus position paper.

PubMed

Casali, P G; Bruzzi, P; Bogaerts, J; Blay, J-Y

2015-02-01

While they account for one-fifth of new cancer cases, rare cancers are difficult to study. A higher than average degree of uncertainty should be accommodated for clinical as well as for population-based decision making. Rules of rational decision making in conditions of uncertainty should be rigorously followed and would need widely informative clinical trials. In principle, any piece of new evidence would need to be exploited in rare cancers. Methodologies to explicitly weigh and combine all the available evidence should be refined, and the Bayesian logic can be instrumental to this end. Likewise, Bayesian-design trials may help optimize the low number of patients liable to be enrolled in clinical studies on rare cancers, as well as adaptive trials in general, with their inherent potential of flexibility when properly applied. While clinical studies are the mainstay to test hypotheses, the potential of electronic patient records should be exploited to generate new hypotheses, to create external controls for future studies (when internal controls are unpractical), to study effectiveness of new treatments in real conditions. Framework study protocols in specific rare cancers to sequentially test sets of new agents, as from the early post-phase I development stage, should be encouraged. Also the compassionate and the off-label settings should be exploited to generate new evidence, and flexible regulatory innovations such as adaptive licensing could convey new agents early to rare cancer patients, while generating evidence. Though validation of surrogate end points is problematic in rare cancers, the use of an updated notion of tumor response may be of great value in the single patient to optimize the use of therapies, all the more the new ones. Disease-based communities, involving clinicians and patients, should be regularly consulted by regulatory bodies when setting their policies on drug approval and reimbursement in specific rare cancers. © The Author 2014

Spontaneous motor entrainment to music in multiple vocal mimicking species.

PubMed

Schachner, Adena; Brady, Timothy F; Pepperberg, Irene M; Hauser, Marc D

2009-05-26

The human capacity for music consists of certain core phenomena, including the tendency to entrain, or align movement, to an external auditory pulse [1-3]. This ability, fundamental both for music production and for coordinated dance, has been repeatedly highlighted as uniquely human [4-11]. However, it has recently been hypothesized that entrainment evolved as a by-product of vocal mimicry, generating the strong prediction that only vocal mimicking animals may be able to entrain [12, 13]. Here we provide comparative data demonstrating the existence of two proficient vocal mimicking nonhuman animals (parrots) that entrain to music, spontaneously producing synchronized movements resembling human dance. We also provide an extensive comparative data set from a global video database systematically analyzed for evidence of entrainment in hundreds of species both capable and incapable of vocal mimicry. Despite the higher representation of vocal nonmimics in the database and comparable exposure of mimics and nonmimics to humans and music, only vocal mimics showed evidence of entrainment. We conclude that entrainment is not unique to humans and that the distribution of entrainment across species supports the hypothesis that entrainment evolved as a by-product of selection for vocal mimicry.

18F-FDG avid Sclerosing Angiomatoid Nodular Transformation (SANT) of spleen on PET-CT - a rare mimicker of metastasis.

PubMed

Sharma, Punit

2018-01-01

Sclerosing Angiomatoid Nodular Transformation (SANT) is a rare benign vascular tumor of spleen. It consists of multiple angiomatoid nodules surrounded by dense fibrous tissue that often coalesces centrally to form a scar, which is considered to be a characteristic feature. These are usually asymptomatic and incidentally detected on imaging for other underlying pathology. SANTs can be 18F-Fluorodeoxyglucose (18F-FDG) avid on positron emission tomography-computed tomography (PET-CT) and thus can lead to false positive finding in oncological patients.

Ileal Entrapment within a Paracaecal Hernia Mimicking Acute Appendicitis

PubMed Central

Birchley, David

2009-01-01

Presented is a case of incarcerated paracaecal hernia mimicking acute appendicitis. The clinical scenario highlights the need for a high index of suspicion in the management of patients with localised peritonism even in the absence of obstructive symptoms and the presence of normal laboratory markers of inflammation.Whilst computed tomography might offer a pre-operative diagnosis, in such a low-risk patient laparoscopy offers the combined advantages of immediate diagnosis and definitive treatment of acute pathology. PMID:19317924

Purified hematopoietic stem cell engraftment of rare niches corrects severe lymphoid deficiencies without host conditioning

PubMed Central

Bhattacharya, Deepta; Rossi, Derrick J.; Bryder, David; Weissman, Irving L.

2006-01-01

In the absence of irradiation or other cytoreductive conditioning, endogenous hematopoietic stem cells (HSCs) are thought to fill the unique niches within the bone marrow that allow maintenance of full hematopoietic potential and thus prevent productive engraftment of transplanted donor HSCs. By transplantation of purified exogenous HSCs into unconditioned congenic histocompatible strains of mice, we show that ∼0.1–1.0% of these HSC niches are available for engraftment at any given point and find no evidence that endogenous HSCs can be displaced from the niches they occupy. We demonstrate that productive engraftment of HSCs within these empty niches is inhibited by host CD4+ T cells that recognize very subtle minor histocompatibility differences. Strikingly, transplantation of purified HSCs into a panel of severe combined immunodeficient (SCID) mice leads to a rapid and complete rescue of lymphoid deficiencies through engraftment of these very rare niches and expansion of donor lymphoid progenitors. We further demonstrate that transient antibody-mediated depletion of CD4+ T cells allows short-term HSC engraftment and regeneration of B cells in a mouse model of B(-) non-SCID. These experiments provide a general mechanism by which transplanted HSCs can correct hematopoietic deficiencies without any host conditioning or with only highly specific and transient lymphoablation. PMID:16380511

Towards a high thermoelectric performance in rare-earth substituted SrTiO3: effects provided by strongly-reducing sintering conditions.

PubMed

Kovalevsky, A V; Yaremchenko, A A; Populoh, S; Thiel, P; Fagg, D P; Weidenkaff, A; Frade, J R

2014-12-28

Donor-substituted strontium titanate ceramics demonstrate one of the most promising performances among n-type oxide thermoelectrics. Here we report a marked improvement of the thermoelectric properties in rare-earth substituted titanates Sr0.9R0.1TiO3±δ (R = La, Ce, Pr, Nd, Sm, Gd, Dy, Y) to achieve maximal ZT values of as high as 0.42 at 1190 K < T < 1225 K, prepared via a conventional solid state route followed by sintering under strongly reducing conditions (10%H2-90%N2, 1773 K). As a result of complex defect chemistry, both electrical and thermal properties were found to be dependent on the nature of the rare-earth cation and exhibit an apparent correlation with the unit cell size. High power factors of 1350-1550 μW m(-1) K(-2) at 400-550 K were observed for R = Nd, Sm, Pr and Y, being among the largest reported so far for n-type conducting bulk-ceramic SrTiO3-based materials. Attractive ZT values at high temperatures arise primarily from low thermal conductivity, which, in turn, stem from effective phonon scattering in oxygen-deficient perovskite layers formed upon reduction. The results suggest that highly-reducing conditions are essential and should be employed, whenever possible, in other related micro/nanostructural engineering approaches to suppress the thermal conductivity in target titanate-based ceramics.

Rare causes of early-onset dystonia-parkinsonism with cognitive impairment: a de novo PSEN-1 mutation.

PubMed

Carecchio, Miryam; Picillo, Marina; Valletta, Lorella; Elia, Antonio E; Haack, Tobias B; Cozzolino, Autilia; Vitale, Annalisa; Garavaglia, Barbara; Iuso, Arcangela; Bagella, Caterina F; Pappatà, Sabina; Barone, Paolo; Prokisch, Holger; Romito, Luigi; Tiranti, Valeria

2017-07-01

Mutations in PSEN1 are responsible for familial Alzheimer's disease (FAD) inherited as autosomal dominant trait, but also de novo mutations have been rarely reported in sporadic early-onset dementia cases. Parkinsonism in FAD has been mainly described in advanced disease stages. We characterized a patient presenting with early-onset dystonia-parkinsonism later complicated by dementia and myoclonus. Brain MRI showed signs of iron accumulation in the basal ganglia mimicking neurodegeneration with brain iron accumulation (NBIA) as well as fronto-temporal atrophy. Whole exome sequencing revealed a novel PSEN1 mutation and segregation within the family demonstrated the mutation arose de novo.We suggest considering PSEN1 mutations in cases of dystonia-parkinsonism with positive DAT-Scan, later complicated by progressive cognitive decline and cortical myoclonus even without a dominant family history.

Borrelia Lymphocytoma Mimicking Butterfly Rash in a Pediatric Patient.

PubMed

Llamas-Velasco, Mar; Paredes, Bruno Emilio

2018-03-01

A 5-year-old girl presented with a facial butterfly rash that persisted for 5 months without arthralgia, fever, malaise, photosensitivity, or other symptoms. Lupus erythematosus was clinically suspected. All blood tests were negative or within normal values. Skin biopsy showed a dense nodular superficial and deep inflammatory infiltrate of lymphocytes that reaches subcutaneous tissue. The most striking histopathological finding was plasma cells with some perifollicular accentuation. Borrelia polymerase chain reaction assay of the tissue was positive, and we made the diagnoses of borrelia lymphocytoma mimicking butterfly rash of lupus erythematosus. The lesions disappeared with amoxicillin followed by cefuroxime for 28 days. In children, a variety of diseases including lupus erythematous may lead to a butterfly rash that is usually short lasting and commonly associated with systemic symptoms. Borreliosis may be related with long-lasting facial erythema in children and may mimic lupus and present high titers of antinuclear antibodies. In any case, borrelial lymphocytoma has not been previously reported as a cause of butterfly rash, thus mimicking acute lupus in a child, as in our case. From a histopathological point of view, the presence of plasma cells in a pseudolymphomatous infiltrate is a clue for the right diagnosis. Therefore, we suggest that borrelia serology should be done in children with butterfly rash lasting more than a month and empirical antibiotic treatment should be tried even in cases with negative serology.

Subaortic membrane mimicking hypertrophic cardiomyopathy.

PubMed

Anderson, Mark Joseph; Arruda-Olson, Adelaide; Gersh, Bernard; Geske, Jeffrey

2015-11-04

A 34-year-old man was referred for progressive angina and exertional dyspnoea refractory to medical therapy, with a presumptive diagnosis of hypertrophic cardiomyopathy (HCM). Transthoracic echocardiography (TTE) revealed asymmetric septal hypertrophy without systolic anterior motion of the mitral valve leaflet and with no dynamic left ventricular outflow tract (LVOT) obstruction. However, the LVOT velocity was elevated at rest as well as with provocation, without the characteristic late peaking obstruction seen in HCM. Focused TTE to evaluate for suspected fixed obstruction demonstrated a subaortic membrane 2.2 cm below the aortic valve. Coronary CT angiography confirmed the presence of the subaortic membrane and was negative for concomitant coronary artery disease. Surgical resection of the subaortic membrane and septal myectomy resulted in significant symptomatic relief and lower LVOT velocities on postoperative TTE. This case reminds the clinician to carefully evaluate for alternative causes of LVOT obstruction, especially subaortic membrane, as a cause of symptoms mimicking HCM. 2015 BMJ Publishing Group Ltd.

Subaortic membrane mimicking hypertrophic cardiomyopathy

PubMed Central

Anderson, Mark Joseph; Arruda-Olson, Adelaide; Gersh, Bernard; Geske, Jeffrey

2015-01-01

A 34-year-old man was referred for progressive angina and exertional dyspnoea refractory to medical therapy, with a presumptive diagnosis of hypertrophic cardiomyopathy (HCM). Transthoracic echocardiography (TTE) revealed asymmetric septal hypertrophy without systolic anterior motion of the mitral valve leaflet and with no dynamic left ventricular outflow tract (LVOT) obstruction. However, the LVOT velocity was elevated at rest as well as with provocation, without the characteristic late peaking obstruction seen in HCM. Focused TTE to evaluate for suspected fixed obstruction demonstrated a subaortic membrane 2.2 cm below the aortic valve. Coronary CT angiography confirmed the presence of the subaortic membrane and was negative for concomitant coronary artery disease. Surgical resection of the subaortic membrane and septal myectomy resulted in significant symptomatic relief and lower LVOT velocities on postoperative TTE. This case reminds the clinician to carefully evaluate for alternative causes of LVOT obstruction, especially subaortic membrane, as a cause of symptoms mimicking HCM. PMID:26538250

Humanlike Robots - Synthetically Mimicking Humans

NASA Technical Reports Server (NTRS)

Bar-Cohen, Yoseph

2012-01-01

Nature inspired many inventions and the field of technology that is based on the mimicking or inspiration of nature is widely known as Biomimetics and it is increasingly leading to many new capabilities. There are numerous examples of biomimetic successes including the copying of fins for swimming, and the inspiration of the insects and birds flight. More and more commercial implementations of biomimetics are appearing and behaving lifelike and applications are emerging that are important to our daily life. Making humanlike robots is the ultimate challenge to biomimetics and, for many years, it was considered science fiction, but such robots are becoming an engineering reality. Advances in producing such robot are allowing them to perform impressive functions and tasks. The development of such robots involves addressing many challenges and is raising concerns that are related to fear of their application implications and potential ethical issues. In this paper, the state-of-the-art of humanlike robots, potential applications and challenges will be reviewed.

A rare condition of anorectal dysfunction in a patient with multiple sclerosis: Coexistence of faecal incontinence and mechanical constipation: Report of case

PubMed Central

Dandin, Özgür; Akpak, Yaşam Kemal; Karakaş, Dursun Özgür; Hazer, Batuhan; Ergin, Tuncer; Dandinoğlu, Taner; Teomete, Uygar

2014-01-01

INTRODUCTION Multiple sclerosis is a chronic demyelinating neurological disease and causing a variety of neurological symptoms, including discomfort of anorectal function. Constipation and faecal incontinence present as anorectal dysfunction in MS and anal manometry, colonic transit time, electromyography, and defecography can be used for assessment. PRESENTATION OF CASE We presented a thirty-three years old woman with rare condition of anorectal dysfunction in multiple sclerosis. Anal manometry, defecography were done, and synchronously anal incontinence and mechanical constipation due to rectocele and anismus were detected in this patient. DISCUSSION Although anal incontinence and constipation are seen often in patients with multiple sclerosis, in the literature, coexistence of animus, rectocele and anal incontinence are quite rare. CONCLUSION Defecography and anal manometry are useful diagnostic methods for demonstration of anorectal dysfuntions in patients with MS. PMID:25460483

MRI-based morphological modeling, synthesis and characterization of cardiac tissue-mimicking materials.

PubMed

Kossivas, Fotis; Angeli, S; Kafouris, D; Patrickios, C S; Tzagarakis, V; Constantinides, C

2012-06-01

This study uses standard synthetic methodologies to produce tissue-mimicking materials that match the morphology and emulate the in vivo murine and human cardiac mechanical and imaging characteristics, with dynamic mechanical analysis, atomic force microscopy (AFM), scanning electron microscopy (SEM) and magnetic resonance imaging. In accordance with such aims, poly(glycerol sebacate) (PGS) elastomeric materials were synthesized (at two different glycerol (G)-sebacic (S) acid molar ratios; the first was synthesized using a G:S molar ratio of 2:2, while the second from a 2:5 G:S molar ratio, resulting in PGS2:2 and PGS2:5 elastomers, respectively). Unlike the synthesized PGS2:2 elastomers, the PGS2:5 materials were characterized by an overall mechanical instability in their loading behavior under the three successive loading conditions tested. An oscillatory response in the mechanical properties of the synthesized elastomers was observed throughout the loading cycles, with measured increased storage modulus values at the first loading cycle, stabilizing to lower values at subsequent cycles. These elastomers were characterized at 4 °C and were found to have storage modulus values of 850 and 1430 kPa at the third loading cycle, respectively, in agreement with previously reported values of the rat and human myocardium. SEM of surface topology indicated minor degradation of synthesized materials at 10 and 20 d post-immersion in the PBS buffer solution, with a noted cluster formation on the PGS2:5 elastomers. AFM nanoindentation experiments were also conducted for the measurement of the Young modulus of the sample surface (no bulk contribution). Correspondingly, the PGS2:2 elastomer indicated significantly decreased surface Young's modulus values 20 d post-PBS immersion, compared to dry conditions (Young's modulus = 1160 ± 290 kPa (dry) and 200 ± 120 kPa (20 d)). In addition to the two-dimensional (2D) elastomers, an integrative platform for accurate construction of

Ethical aspects on rare diseases.

PubMed

Barrera, Luis A; Galindo, Gilberto Cely

2010-01-01

In this chapter we discuss several of the most relevant subjects related to ethics on Rare Diseases. Some general aspects are discussed such as the socio-psychological problems that confront the patients and their families that finally lead to marginalization and exclusion of patients affected by these diseases from the health programs, even in wealthy countries. Then we address problems related to diagnosis and some ethical aspects of newborn screening, prenatal, pre-implantation diagnosis and reference centers, as well as some conditions that should be met by the persons and institutions performing such tasks. Alternatives of solutions for the most critical situations are proposed. Subsequently the orphan drugs subject is discussed not only from the availability point of view, prizes, industrial practices, and purchasing power in developed and developing societies. The research related to rare disease in children and other especially vulnerable conditions, the need for informed consent, review boards or ethics comities, confidentiality of the information, biobanks and pharmacogenetics are discussed.

Community structure of rare methanogenic archaea: insight from a single functional group

PubMed Central

Winkel, Matthias; Wagner, Dirk

2017-01-01

Abstract The rare biosphere, the low abundant microbial populations, is suggested to be a conserved way of microbial life. Here we conducted a molecular survey of rare methanogenic archaea in the environment targeting the mcrA gene in order to test if general concepts associated with the structure of the rare bacterial biosphere also apply to single functional groups. Similar to what is known about rare bacterial communities, the contribution of rare methanogens to the alpha diversity is much larger than to Bray-Curtis measures. Moreover, a similar core group of methanogens harbored by the abundant and rare communities suggests similar sources and environmental controls of both groups. Among the communities of different levels of rarity, the conditionally rare methanogenic taxa largely account for the overall community dynamics of the rare biosphere and likely enter the dominant community under favorable environmental conditions. In addition, we observed a positive correlation between the alpha diversity and the production of methane when the rare taxa were taken into account. This supports the concept that increasing microbial biodiversity enhances ecological function. The composition and environmental associations of the rare methanogenic biosphere allow us to conclude that rarity is a conserved way also for single functional groups. PMID:29029047

Simple bone cyst of mandible mimicking periapical cyst.

PubMed

Hs, Charan Babu; Rai, Bhagawan Das; Nair, Manju A; Astekar, Madhusudan S

2012-05-29

Simple bone cysts (SBC) are pseudocysts occurring less commonly in the maxillofacial region. The uncertain and unclear etiopathogenesis led to numerous synonyms to refer this particular cyst. These cysts are devoid of an epithelial lining and are usually empty or contain blood or straw-colored fluid. In jaws initially it mimics a periapical cyst and later can lead to cortical bone expansion warranting for radical approach, which is seldom required. SBC is predominantly diagnosed in first two decades of life. Here we report a case of solitary bone cyst mimicking a periapical cyst of a mandibular molar in a 37-year-old patient.

An Unusual Foreign Body in the Urinary Bladder Mimicking a Parasitic Worm

PubMed Central

Schmitt, Bryan H.; Feder, Marc T.; Rokke, Denise L.; Moyer, Thomas P.

2012-01-01

We report an unusual case of a foreign body removed from the urinary bladder of a 63-year-old male which mimicked a parasitic worm. The foreign body was identified as an artificial fishing worm by morphological comparison to a similar commercially produced product and by infrared spectrum analysis. PMID:22535991

Traumatic head injury mimicking acute encephalopathy with biphasic seizures and late reduced diffusion.

PubMed

Inoue, Hirofumi; Hasegawa, Shunji; Kajimoto, Madoka; Matsushige, Takeshi; Ichiyama, Takashi

2014-10-01

Many studies have reported acute encephalopathy with biphasic seizures and late reduced diffusion (AESD) associated with viral infection at onset, but few studies have reported AESD without infection. We report the case of a 9-month-old boy who had a clinical course mimicking AESD after a traffic accident. The traffic accident caused a mild subdural hematoma without neurological abnormalities on admission. The boy became unconscious on the second day, and he was diagnosed with non-convulsive status epilepticus on the third day. Diffusion-weighted imaging showed reduced water diffusion in the subcortical white matter. On laboratory analysis interleukin (IL)-6 was elevated in the cerebrospinal fluid (CSF), but not in the serum. He had severe neurological sequelae with mental retardation, spastic tetraplegia, and epilepsy. We suggest that brain damage mimicking AESD was caused by the traffic accident and the prolonged seizure during infancy. © 2014 Japan Pediatric Society.

Thalamic Amnesia Mimicking Transient Global Amnesia.

PubMed

Giannantoni, Nadia M; Lacidogna, Giordano; Broccolini, Aldobrando; Pilato, Fabio; Profice, Paolo; Morosetti, Roberta; Caliandro, Pietro; Gambassi, Giovanni; Della Marca, Giacomo; Frisullo, Giovanni

2015-06-01

Transient global amnesia is a benign syndrome and one of the most frequent discharges from the emergency department that can hardly be distinguished from other mimicking diseases. No consensus in the evaluation of transient global amnesia has yet been found in the emergency setting. We describe a 69-year-old woman who presented to our emergency department with an abrupt onset of anterograde amnesia, preceded by a similar amnesic episode misinterpreted as transient global amnesia. Neuroradiologic, neuropsychological, and neurophysiological evaluations supported the diagnosis of vascular thalamic amnesia. We report a patient who clinically fulfilled transient global amnesia's criteria and in whom nevertheless was disclosed a thalamic ischemic lesion on neuroimaging.This case report highlights the importance of performing neuroradiologic screening in the emergency department even when clinical history and physical findings are highly suggestive for transient global amnesia.

A rare condition of anorectal dysfunction in a patient with multiple sclerosis: Coexistence of faecal incontinence and mechanical constipation: Report of case.

PubMed

Dandin, Özgür; Akpak, Yaşam Kemal; Karakaş, Dursun Özgür; Hazer, Batuhan; Ergin, Tuncer; Dandinoğlu, Taner; Teomete, Uygar

2014-01-01

Multiple sclerosis is a chronic demyelinating neurological disease and causing a variety of neurological symptoms, including discomfort of anorectal function. Constipation and faecal incontinence present as anorectal dysfunction in MS and anal manometry, colonic transit time, electromyography, and defecography can be used for assessment. We presented a thirty-three years old woman with rare condition of anorectal dysfunction in multiple sclerosis. Anal manometry, defecography were done, and synchronously anal incontinence and mechanical constipation due to rectocele and anismus were detected in this patient. Although anal incontinence and constipation are seen often in patients with multiple sclerosis, in the literature, coexistence of animus, rectocele and anal incontinence are quite rare. Defecography and anal manometry are useful diagnostic methods for demonstration of anorectal dysfuntions in patients with MS. Copyright © 2014 The Authors. Published by Elsevier Ltd.. All rights reserved.

Idiopathic granulomatous mastitis: a mimicking disease in a pregnant woman: a case report

PubMed Central

2013-01-01

Background Idiopathic granulomatous mastitis is a rare, benign, inflammatory chronic condition of unclear etiology. This case is reported because it illustrates how idiopathic granulomatous mastitis can mimic other diseases, making it difficult to associate the presenting symptoms and the correct diagnosis; This disease is a challenge for clinicians to diagnose, manage and avoid iatrogenic complications, and requires consultation with experts in several specialties. Case presentation The patient was 30 years old, South-American, eleven weeks pregnant, and with an apparent infectious mastitis. She presented with progressive worsening of her breast symptoms and multiple negative laboratory tests. She suffered different side effects from several prescribed treatments and endured a prolonged recovery. The article emphasizes the need for ruling out common pathologies to arrive at the correct diagnosis such as bacterial and fungal infections; granulomatous conditions like tuberculosis and sarcoidosis; and inflammatory breast carcinoma. It also describes frequently used pharmacological and supplementary forms of treatment for patients with this condition. Conclusion Idiopathic granulomatous mastitis is a rare unusual condition of unknown etiology. Pathological confirmation is required for its diagnosis and optimal management is still unclear. The presentation and management of this case is intended to advance its awareness to physicians from different specialties. PMID:23497626

Malignant spinal cord compression in cancer patients may be mimicked by a primary spinal cord tumour.

PubMed

Mohammadianpanah, M; Vasei, M; Mosalaei, A; Omidvari, S; Ahmadloo, N

2006-12-01

Although it is quite rare, second primary neoplasms in cancer patients may present with the signs and symptoms of malignant spinal cord compression. Primary spinal cord tumours in the cancer patients may be deceptive and considered as the recurrent first cancer. Therefore, it should be precisely differentiated and appropriately managed. We report such a case of intramedullary ependymoma of the cervical spinal cord mimicking metatstatic recurrent lymphoma and causing cord compression. A 50-year-old man developed intramedullary ependymoma of the cervical spinal cord 1.5 years following chemoradiation for Waldeyer's ring lymphoma. He presented with a 2-month history of neck pain, progressive upper- and lower-extremity numbness and weakness, and bowel and bladder dysfunction. Magnetic resonance imaging revealed an intramedullary expansive lesion extending from C4 to C6 levels of the cervical spinal cord. The clinical and radiological findings were suggestive of malignant process. A comprehensive investigation failed to detect another site of disease. He underwent operation, and the tumour was subtotally resected. The patient's neurological deficits improved subsequently. The development of the intramedullary ependymoma following treating lymphoma has not been reported. We describe the clinical, radiological and pathological findings of this case and review the literature.

The Use of Social Media to Recruit Participants With Rare Conditions: Lynch Syndrome as an Example

PubMed Central

Parker, Wendy M; Hennig, Kelsey; Sisson, Faith; Bruzzone, Linda L

2017-01-01

Background Social media is increasingly being used as a means of recruiting participants, particularly for investigators whose areas of interest involve rare conditions or hard-to-reach populations. However, much of the literature to date has focused on paid advertisement recruitment. Objective We used Lynch syndrome (LS), a rare hereditary cancer syndrome, as a model to demonstrate the successful partnership between researchers and a Web-based patient education and advocacy organization to facilitate participant recruitment. Methods Recruitment was undertaken in partnership with Lynch Syndrome International (LSI), an advocacy organization with a strong social media presence. After LSI published our study information, participants followed up via email or phone call. Following prescreening and consent, interested and eligible participants were then sent a secure survey link. Results Within 36 hours of a single Facebook post by the site administrators for LSI, over 150 individuals responded via phone or email. Sixty-five individuals were sent the survey link and 57 individuals completed the survey (88% response rate). Of note, these 57 individuals were geographically diverse within the Unites States, representing LS patients from 26 different states. Conclusions This approach has several advantages, including recruitment through a trusted source outside of a clinical setting, higher response rates, and cost-effectiveness with a small research team in a relatively short amount of time. Overall, social media recruitment with a trusted online partner can be highly effective in hard-to-reach clinical populations, such as patients with LS. However, this approach requires additional effort for eligibility screening. PMID:28115298

Synonymies of wasp-mimicking species within the katydid genus Aganacris (Orthoptera: Tettigoniidae: Phaneropterinae)

USDA-ARS?s Scientific Manuscript database

Five neotropical wasp-mimicking species of the genus Aganacris—two known from females only and three from males only—are reviewed. Based on observations of interspecific interactions and morphological comparisons, sexual dimorphism is shown to occur within species, and that female species are consp...

Amplified biosensing using the horseradish peroxidase-mimicking DNAzyme as an electrocatalyst.

PubMed

Pelossof, Gilad; Tel-Vered, Ran; Elbaz, Johann; Willner, Itamar

2010-06-01

The hemin/G-quadruplex horseradish peroxidase-mimicking DNAzyme is assembled on Au electrodes. It reveals bioelectrocatalytic properties and electrocatalyzes the reduction of H(2)O(2). The bioelectrocatalytic functions of the hemin/G-quadruplex DNAzyme are used to develop electrochemical sensors that follow the activity of glucose oxidase and biosensors for the detection of DNA or low-molecular-weight substrates (adenosine monophosphate, AMP). Hairpin nucleic structures that include the G-quadruplex sequence in a caged configuration and the nucleic acid sequence complementary to the analyte DNA, or the aptamer sequence for AMP, are immobilized on Au-electrode surfaces. In the presence of the DNA analyte, or AMP, the hairpin structures are opened, and the hemin/G-quadruplex horseradish peroxidase-mimicking DNAzyme structures are generated on the electrode surfaces. The bioelectrocatalytic cathodic currents generated by the functionalized electrodes, upon the electrochemical reduction of H(2)O(2), provide a quantitative measure for the detection of the target analytes. The DNA target was analyzed with a detection limit of 1 x 10(-12) M, while the detection limit for analyzing AMP was 1 x 10(-6) M. Methods to regenerate the sensing surfaces are presented.

Idelalisib-induced colitis and skin eruption mimicking graft-versus-host disease.

PubMed

Hammami, Muhammad Bader; Al-Taee, Ahmad; Meeks, Marshall; Fesler, Mark; Hurley, M Yadira; Cao, Dengfeng; Lai, Jin-Ping

2017-04-01

Idelalisib is a selective inhibitor of the delta isoform of phosphatidylinositol 3-kinase which was approved by the United States Federal Drug Administration in 2014 for the treatment of relapsed chronic lymphocytic leukemia and indolent non-Hodgkin lymphoma. Drug-induced injury of the gastrointestinal tract is a relatively frequent but usually under-recognized disease entity. We report the case of a 56-year-old male with a history of relapsed follicular lymphoma status post allogenic bone marrow transplant who developed severe diarrhea with a skin eruption mimicking graft-versus-host disease (GVHD) 6 months after starting idelalisib. He underwent a colonoscopy demonstrating a grossly normal-appearing colon and terminal ileum. Biopsies taken during the procedure revealed mild active ileitis, colitis, and proctitis with frequent epithelial apoptosis, and focal intra-epithelial lymphocytosis. Skin biopsies revealed sub-acute spongiotic dermatitis suggestive of either contact dermatitis or an eczematous drug reaction. Symptoms were attributed to idelalisib given their resolution with withdrawal of the drug in conjunction with the skin and colonic biopsies. High clinical suspicion and awareness of the histological features of idelalisib-associated colitis is important to distinguish it from potential mimickers such as GVHD and infectious colitis.

Agreement between Descriptive and Experimental Analyses of Behavior under Naturalistic Test Conditions

ERIC Educational Resources Information Center

Martens, Brian K.; Gertz, Lynne E.; Werder, Candace Susan de Lacy; Rymanowski, Jennifer L.

2010-01-01

We compared the results of a contingency space analysis (CSA) of behavior-consequence recordings to the results of functional analysis (FA) test conditions involving antecedent stimuli and verbal statements that both differed from and mimicked those in the natural environment. Three preschool children with autism spectrum disorder participated.…

Staphylococcus aureus Transcriptome Architecture: From Laboratory to Infection-Mimicking Conditions

PubMed Central

Depke, Maren; Pané-Farré, Jan; Debarbouille, Michel; van der Kooi-Pol, Magdalena M.; Guérin, Cyprien; Dérozier, Sandra; Hiron, Aurelia; Jarmer, Hanne; Leduc, Aurélie; Michalik, Stephan; Reilman, Ewoud; Schaffer, Marc; Schmidt, Frank; Bessières, Philippe; Noirot, Philippe; Hecker, Michael; Msadek, Tarek; Völker, Uwe; van Dijl, Jan Maarten

2016-01-01

Staphylococcus aureus is a major pathogen that colonizes about 20% of the human population. Intriguingly, this Gram-positive bacterium can survive and thrive under a wide range of different conditions, both inside and outside the human body. Here, we investigated the transcriptional adaptation of S. aureus HG001, a derivative of strain NCTC 8325, across experimental conditions ranging from optimal growth in vitro to intracellular growth in host cells. These data establish an extensive repertoire of transcription units and non-coding RNAs, a classification of 1412 promoters according to their dependence on the RNA polymerase sigma factors SigA or SigB, and allow identification of new potential targets for several known transcription factors. In particular, this study revealed a relatively low abundance of antisense RNAs in S. aureus, where they overlap only 6% of the coding genes, and only 19 antisense RNAs not co-transcribed with other genes were found. Promoter analysis and comparison with Bacillus subtilis links the small number of antisense RNAs to a less profound impact of alternative sigma factors in S. aureus. Furthermore, we revealed that Rho-dependent transcription termination suppresses pervasive antisense transcription, presumably originating from abundant spurious transcription initiation in this A+T-rich genome, which would otherwise affect expression of the overlapped genes. In summary, our study provides genome-wide information on transcriptional regulation and non-coding RNAs in S. aureus as well as new insights into the biological function of Rho and the implications of spurious transcription in bacteria. PMID:27035918

Exquisite Enzyme-Fenton Biomimetic Catalysts for Hydroxyl Radical Production by Mimicking an Enzyme Cascade.

PubMed

Zhang, Qi; Chen, Shuo; Wang, Hua; Yu, Hongtao

2018-03-14

Hydrogen peroxide (H 2 O 2 ) is a key reactant in the Fenton process. As a byproduct of enzymatic reaction, H 2 O 2 can be obtained via catalytical oxidation of glucose using glucose oxidase in the presence of O 2 . Another oxidation product (gluconic acid) can suitably adjust the microenvironmental pH contributing to the Fe 3+ /Fe 2+ cycle in the Fenton reaction. Enzymes are extremely efficient at catalyzing a variety of reactions with high catalytic activity, substrate specificity, and yields in living organisms. Inspired by the multiple functions of natural multienzyme systems, an exquisite nanozyme-modified α-FeOOH/porous carbon (PC) biomimetic catalyst constructed by in situ growth of glucose oxidase-mimicking Au nanoparticles and crystallization of adsorbed ferric ions within carboxyl into hierarchically PC is developed as an efficient enzyme-Fenton catalyst. The products (H 2 O 2 , ∼4.07 mmol·L -1 ) of the first enzymatic reaction are immediately used as substrates for the second Fenton-like reaction to generate the valuable • OH (∼96.84 μmol·L -1 ), thus mimicking an enzyme cascade pathway. α-FeOOH nanocrystals, attached by C-O-Fe bondings, are encapsulated into the mesoporous PC frameworks, facilitating the electron transfer between α-FeOOH and the PC support and greatly suppressing iron leaching. This study paves a new avenue for designing biomimetic enzyme-based Fenton catalysts mimicking a natural system for • OH production.

Cronkhite-Canada Syndrome (CCS)-A Rare Case Report.

PubMed

Chakrabarti, Subrata

2015-03-01

Cronkhite-Canada syndrome (CCS) is an extremely rare non-inherited condition characterized by gastrointestinal hamartomatous polyposis, alopecia, onychodystrophy, hyperpigmentation, weight loss and diarrhoea. The aetiology is probably autoimmune and diagnosis is based on history, physical examination, endoscopic findings of gastrointestinal polyposis, and histology. The disease is very rare; approximately 450 cases of CCS have been reported worldwide. The author reports a case of CCS in an elderly Indian male.

The Rare Togetherness of Bladder Leiomyoma and Neurofibromatosis.

PubMed

Yucel, Cem; Budak, Salih; Kisa, Erdem; Celik, Orcun; Kozacioglu, Zafer

2018-01-01

Neurofibromatosis Type 1 (Von Recklinghausen disease) is a common, autosomal dominant hereditary disorder characterized by involvement of multiple tissues derived from the neural crest. Urinary system involvement in neurofibromatosis is a rare condition. Leiomyoma of the bladder is a rare benign mesenchymal tumor. In this case, our experience and approach regarding the bladder leiomyoma development in a patient diagnosed with neurofibromatosis are presented and the literature data has been reviewed.

Reverse engineering nuclear properties from rare earth abundances in the r process

NASA Astrophysics Data System (ADS)

Mumpower, M. R.; McLaughlin, G. C.; Surman, R.; Steiner, A. W.

2017-03-01

The bulk of the rare earth elements are believed to be synthesized in the rapid neutron capture process or r process of nucleosynthesis. The solar r-process residuals show a small peak in the rare earths around A∼ 160, which is proposed to be formed dynamically during the end phase of the r process by a pileup of material. This abundance feature is of particular importance as it is sensitive to both the nuclear physics inputs and the astrophysical conditions of the main r process. We explore the formation of the rare earth peak from the perspective of an inverse problem, using Monte Carlo studies of nuclear masses to investigate the unknown nuclear properties required to best match rare earth abundance sector of the solar isotopic residuals. When nuclear masses are changed, we recalculate the relevant β-decay properties and neutron capture rates in the rare earth region. The feedback provided by this observational constraint allows for the reverse engineering of nuclear properties far from stability where no experimental information exists. We investigate a range of astrophysical conditions with this method and show how these lead to different predictions in the nuclear properties influential to the formation of the rare earth peak. We conclude that targeted experimental campaigns in this region will help to resolve the type of conditions responsible for the production of the rare earth nuclei, and will provide new insights into the longstanding problem of the astrophysical site(s) of the r process.

[Graft-versus-host disease as the cause of symptoms mimicking Sjögren's syndrome].

PubMed

Tuchocka-Piotrowska, Aleksandra; Puszczewicz, Mariusz; Kołczewska, Aleksandra; Majewski, Dominik

2006-01-01

A case of chronic graft-versus-host disease (chronic GvHD) mimicking symptoms associated with idiopathic Sjögren's syndrome is presented. Hypotheses on the pathophysiological origin of clinical syndromes associated with graft-versus-host disease are discussed.

Metastatic carcinoma to the mandible that mimicked pulpal/periodontal disease.

PubMed

Selden, H S; Manhoff, D T; Hatges, N A; Michel, R C

1998-04-01

An oral cavity metastasis from a poorly differentiated carcinoma, presumed to have originated in the pancreas, mimicked a dental abscess. An additional metastasis to the lung caused a postobstructive lobar pneumonia that masked the lesion, thereby delaying the diagnosis of malignancy. This case report illustrates how the clinical manifestations of a widely disseminated neoplasm led to initial medical confusion and subsequent dental misdiagnosis, and serves to caution of a possible pitfall in the dental evaluation of endodontic lesions.

Simple bone cyst of mandible mimicking periapical cyst

PubMed Central

HS, Charan Babu; Rai, Bhagawan Das; Nair, Manju A.; Astekar, Madhusudan S.

2012-01-01

Simple bone cysts (SBC) are pseudocysts occurring less commonly in the maxillofacial region. The uncertain and unclear etiopathogenesis led to numerous synonyms to refer this particular cyst. These cysts are devoid of an epithelial lining and are usually empty or contain blood or straw-colored fluid. In jaws initially it mimics a periapical cyst and later can lead to cortical bone expansion warranting for radical approach, which is seldom required. SBC is predominantly diagnosed in first two decades of life. Here we report a case of solitary bone cyst mimicking a periapical cyst of a mandibular molar in a 37-year-old patient. PMID:24765458

A Global Approach to Rare Diseases Research and Orphan Products Development: The International Rare Diseases Research Consortium (IRDiRC).

PubMed

Cutillo, Christine M; Austin, Christopher P; Groft, Stephen C

2017-01-01

Rare diseases present unique challenges to researchers due to the global distribution of patients, complexity and low prevalence of each disease, and limited availability of data. They are also overwhelming and costly for patients, their families, communities, and society. As such, global integration of rare diseases research is necessary to accelerate the understanding, diagnosis, and treatment of rare disorders. The International Rare Diseases Research Consortium (IRDiRC) was born out of that need for a coordinated international community. IRDiRC was launched in 2011 to facilitate cooperation and collaboration on a global scale among the many stakeholders active in rare diseases research to stimulate better coordination, and thereby maximize output of rare diseases research efforts around the world. Members include funders, academic researchers, companies, and patient advocacy organizations all of whom share the common goals and principles of IRDiRC. The overarching objectives of the Consortium are to contribute to the development of 200 new therapies and a means to diagnose most rare diseases, by 2020. As IRDiRC approaches the end of its fifth year, these initial objectives have been largely achieved and new partners from across the globe are joining. This presents the Consortium with the exciting opportunity to set new and even more ambitious goals for the next phase with the ultimate goal of improved health through faster and better diagnostic capabilities and novel therapies for people living with rare diseases and conditions throughout the world.

Empirically assessing the potential release of rare earth elements from black shale under simulated hydraulic fracturing conditions

DOE PAGES

Yang, Jon; Verba, Circe; Torres, Marta; ...

2018-02-01

Rare earth elements (REEs) are economically important to modern society and the rapid growth of technologies dependent on REEs has placed considerable economic pressure on their sourcing. This study addresses whether REEs could be released as a byproduct of natural gas extraction from a series of experiments that were designed to simulate hydraulic fracturing of black shale under various pressure (25 and 27.5 MPa) and temperature (50, 90, 130 °C) conditions. The dissolved REEs in the reacted fluids displayed no propensity for the REEs to be released from black shale under high pressure and temperature conditions, a result that ismore » consistent across the different types of fluids investigated. Overall, there was a net loss of REEs from the fluid. These changes in dissolved REEs were greatest at the moment the fluids first contacted the shale and before the high temperature and high pressure conditions were imposed, although the magnitude of these changes (10 -4 μg/g) were small compared to the magnitude of the total REE content present in the solid shale samples (10 2 μg/g). These results highlight the variability and complexity of hydraulic fracturing systems and indicate that REE may not serve as robust tracers for fracturing fluid-shale reactions. Additionally, the results suggest that significant quantities of REEs may not be byproducts of hydraulically fractured shales.« less

Empirically assessing the potential release of rare earth elements from black shale under simulated hydraulic fracturing conditions

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

Yang, Jon; Verba, Circe; Torres, Marta

Rare earth elements (REEs) are economically important to modern society and the rapid growth of technologies dependent on REEs has placed considerable economic pressure on their sourcing. This study addresses whether REEs could be released as a byproduct of natural gas extraction from a series of experiments that were designed to simulate hydraulic fracturing of black shale under various pressure (25 and 27.5 MPa) and temperature (50, 90, 130 °C) conditions. The dissolved REEs in the reacted fluids displayed no propensity for the REEs to be released from black shale under high pressure and temperature conditions, a result that ismore » consistent across the different types of fluids investigated. Overall, there was a net loss of REEs from the fluid. These changes in dissolved REEs were greatest at the moment the fluids first contacted the shale and before the high temperature and high pressure conditions were imposed, although the magnitude of these changes (10 -4 μg/g) were small compared to the magnitude of the total REE content present in the solid shale samples (10 2 μg/g). These results highlight the variability and complexity of hydraulic fracturing systems and indicate that REE may not serve as robust tracers for fracturing fluid-shale reactions. Additionally, the results suggest that significant quantities of REEs may not be byproducts of hydraulically fractured shales.« less

Intraepithelial lymphocytes, scores, mimickers and challenges in diagnosing gluten-sensitive enteropathy (celiac disease)

PubMed Central

Sergi, Consolato; Shen, Fan; Bouma, Gerd

2017-01-01

The upper digestive tract is routinely scoped for several causes of malabsorption, and the number of duodenal biopsy specimens has increased notably in the last 10 years. Gluten-sensitive enteropathy (GSE) is an autoimmune disease, which shows an increasing prevalence worldwide and requires a joint clinico-pathological approach. The classical histopathology of GSE with partial or total villous blunting is well recognized, but the classification of GSE is not straightforward. Moreover, several mimickers of GSE with intraepithelial lymphocytosis have been identified in the last 20 years, with drug interactions and medical comorbidities adding to the conundrum. In this review, we report on the normal duodenal mucosa, the clinical presentation and laboratory diagnosis of GSE, the duodenal intraepithelial lymphocytes and immunophenotype of GSE-associated lymphocytes, the GSE mimickers, the differences “across oceans” among guidelines in diagnosing GSE, and the use of a synoptic report for reporting duodenal biopsies in both children and adults in the 21st century. PMID:28216964

Super-Anticoagulant Heparin-Mimicking Hydrogel Thin Film Attached Substrate Surfaces to Improve Hemocompatibility.

PubMed

He, Min; Cui, Xiaofei; Jiang, Huiyi; Huang, Xuelian; Zhao, Weifeng; Zhao, Changsheng

2017-02-01

In this study, heparin-mimicking hydrogel thin films are covalently attached onto poly(ether sulfone) membrane surfaces to improve anticoagulant property. The hydrogel films display honeycomb-like porous structure with well controlled thickness and show long-term stability. After immobilizing the hydrogel films, the membranes show excellent anticoagulant property confirmed by the activated partial thromboplastin time values exceeding 600 s. Meanwhile, the thrombin time values increase from 20 to 61 s as the sodium allysulfonate proportions increase from 0 to 80 mol%. In vitro investigations of protein adsorption and blood-related complement activation also confirm that the membranes exhibit super-anticoagulant property. Furthermore, gentamycin sulfate is loaded into the hydrogel films, and the released drug shows significant inhibition toward E. coli bacteria. It is believed that the surface attached heparin-mimicking hydrogel thin films may show high potential for the applications in various biological fields, such as blood contacting materials and drug loading materials. © 2016 WILEY-VCH Verlag GmbH & Co. KGaA, Weinheim.

Hyperostotic Esthesioneuroblastoma: Rare Variant and Fibrous Dysplasia Mimicker

PubMed Central

Knott, Phillip Daniel

2014-01-01

A 65-year-old male presented with a 3-year history of orbital symptoms. An imaging-based diagnosis of fibrous dysplasia involving the skull base was made at another institution. CT showed a diffuse sinonasal mass and ground-glass appearance of the bones of the anterior skull base with bony defects and mucocele formation. MRI demonstrated an accompanying intracranial and orbital rind of soft tissue mass along the hyperostotic bones. FDG-PET showed corresponding intense hypermetabolism. Small cysts were observed at the tumor-brain interface. Biopsy revealed esthesioneuroblastoma with bone infiltration that is compatible with the hyperostotic variant of esthesioneuroblastoma. There are a few cases of hyperostotic esthesioneuroblastoma reported in the literature. PMID:24497807

Osteosarcoma of the mandible mimicking an odontogenic abscess: a case report and review of the literature.

PubMed

Bhadage, Chetan J; Vaishampayan, Sagar; Kolhe, Swapnil; Umarji, Hemant

2013-04-01

Inflammatory lesions, like periapical/odontogenic abscesses, are by far the most common pathologic condition of the jaws. Radiographically, these lesions commonly manifest as widening of periodontal ligament space, discontinuity of lamina dura and ill-defined periapical radiolucency. There are some rare disorders which could cause similar radiographic changes in the jaw bone. With careful scrutiny of periapical radiolucency, regular periodic follow-up radiographs and histo-pathologic examination, the periapical abscess or infection can be differentiated from rare fatal disorders. This paper highlights the need for vigilant examination of even the commonest, innocuous-appearing periapical changes which sometimes are produced by some rare fatal disorders.

Pancreatic pseudopapillary tumour: A rare misdiagnosed entity

PubMed Central

Affirul, C.A.; Qisti, F.N.; Zamri, Z.; Azlanuddin, A.; Hairol, A.O.; Razman, J.

2014-01-01

INTRODUCTION Solid pseudo papillary pancreatic tumour is a rare entity. The atypical presentation causes a delayed or misdiagnosis of these pathology. It commonly affects the female population in the 2nd and 3rd decade of life. The presentation varies from non-specific abdominal pain to incidental findings in asymptomatic patients. It is a low-grade premalignant condition that is curable by excision of the tumour. PRESENTATION OF CASE This paper presents a 17-year-old girl with intra-abdominal mass diagnosed with solid pseudo papillary tumour that underwent Whipple's procedure. DISCUSSION We discuss the presentations, diagnosis and pathology findings of this rare pathology. CONCLUSION The diagnosis remains an enigma in view of the nature and location of the tumour. Resection is still the best choice remains for this condition. PMID:25462046

Lumbar Aspergillus osteomyelitis mimicking pyogenic osteomyelitis in an immunocompetent adult.

PubMed

Yoon, Kyeong-Wook; Kim, Young-Jin

2015-04-01

Spinal Aspergillus osteomyelitis is rare and occurs mostly in immunocompromised patients, but especially very rare in immunocompetent adult. This report presents a case of lumbar vertebral osteomyelitis in immunocompetent adult. A 53-year-old male who had no significant medical history was admitted due to complaints of back pain radiating to the flank for the last 3 months, followed by a progressive motor weakness of both lower limbs. Lumbar magnetic resonance imaging (MRI) demonstrated osteomyelitis and diskitis, suspected to be a pyogenic condition rather than a tuberculosis infection. Despite antibiotic treatment for several weeks, the symptoms worsened, and finally, open surgery was performed. Surgical biopsy revealed an Aspergillus infection and medical treatment with amphotericin B was started. It can be diagnosed early through an MRI; biopsy is very important but difficult, and making the correct differential diagnosis is essential for avoiding unexpected complications. The authors report a case of lumbar Aspergillus osteomyelitis in an immunocompetent adult and reviewed previously described cases of spinal aspergillosis.

Insights into rare diseases from social media surveys.

PubMed

Davies, William

2016-11-09

The internet, and social media platforms, are increasingly being used by substantial sectors of the worldwide population. By engaging effectively with online and social media, scientists and clinicians can obtain unprecedented access to relatively large cohorts of individuals with rare diseases, as well as their relatives, carers and professionals involved in their healthcare. Online surveys of these stakeholder groups may provide important new insights into rare conditions and their management relatively quickly and easily, with the possibility of rapid translation into healthcare interventions and policy. Here, I describe our recent positive experience with the online survey approach to a rare disease (X-linked ichthyosis), and review its advantages and limitations.

Tetra-phocomelia: a rarest of rare case.

PubMed

Shukla, Anil Kumar; Sanjay, S C; Krishna, L; Krishnappa, N

2015-03-01

We present a rarest of rare case of Tetra-Phocomelia evaluated by antenatal Ultrasonography. It is a condition seen in 0.62 per 100,000 live births. An ultrasonogram was done at 18 wk of pregnancy to assess the fetus and after termination gross specimen was evaluated and X-ray infantograms were done to confirm the findings. The case showed classic Tetra-Phocomelia with limbs like flippers of a seal. Our findings make it rarest of rare as only few cases have been so far reported.

Mimicking Atmospheric Flow Conditions to Examine Mosquito Orientation Behavior

NASA Astrophysics Data System (ADS)

Huang, Yi-Chun; Vickers, Neil; Hultmark, Marcus

2017-11-01

Host-seeking female mosquitoes utilize a variety of sensory cues to locate potential hosts. In addition to visual cues, other signals include CO2 , volatile skin emanations, humidity, and thermal cues, each of which can be considered as passive scalars in the environment, primarily distributed by local flow conditions. The behavior of host-seeking female mosquito vectors can be more thoroughly understood by simulating the natural features of the environment through which they navigate, namely the atmospheric boundary layer. Thus, an exploration and understanding of the dynamics of a scalar plume will not only establish the effect of fluid environment on scalar coherence and distribution, but also provide a bioassay platform for approaches directed at disrupting or preventing the cycle of mosquito-vectored disease transmission. In order to bridge between laboratory findings and the natural, ecologically relevant setting, a unique active flow modulation system consisting of a grid of 60 independently operated paddles was developed. Unlike static grids that generate turbulence within a predefined range of scales, an active grid imposes variable and controllable turbulent structures onto the moving air by synchronized rotation of the paddles at specified frequencies.

Visceral leishmaniasis mimicking systemic lupus erythematosus: Case series and a systematic literature review.

PubMed

Santana, Iuri Usêda; Dias, Blenda; Nunes, Eduardo Araújo Santana; Rocha, Francisco Airton Castro da; Silva, Francisco Saraiva; Santiago, Mittermayer Barreto

2015-06-01

Systemic lupus erythematosus (SLE) is an autoimmune disease that may present manifestations that resemble other diseases. Visceral leishmaniasis (VL) is a parasitic infection whose hallmarks may mimic SLE symptoms. Here, we report a case series and evaluate the published, scientific evidence of the relationship between SLE and VL infection. To assess original studies reporting cases of VL-infected patients presenting manifestations that are capable of leading to inappropriate suspicions of SLE or mimicking an SLE flare, we performed an extensive search in several scientific databases (MEDLINE, LILACS, SciELO, and Scopus). Two authors independently screened all citations and abstracts identified by the search strategy to identify eligible studies. Secondary references were additionally obtained from the selected articles. The literature search identified 53 eligible studies, but only 17 articles met our criteria. Among these, 10 lupus patients with VL mimicking an SLE flare and 18 cases of VL leading to unappropriated suspicions of SLE were described. The most common manifestations in patients infected with VL were intermittent fever, pancytopenia, visceromegaly, and increased serum level of acute phase reactants. The most frequent autoantibodies were antinuclear antibodies, rheumatoid factor, and direct Coombs' test. In endemic areas for VL, the diagnosis of SLE or its exacerbation may be a clinical dilemma. Hepatosplenomegaly or isolated splenomegaly was identified in the majority of the reported cases where VL occurred, leading to unappropriated suspicions of SLE or mimicking an SLE flare. Furthermore, the lack of response to steroids, the normal levels of complement proteins C3 and C4, and the increased level of transaminases suggest a possible infectious origin. Copyright © 2015 Elsevier Inc. All rights reserved.

The Rare Togetherness of Bladder Leiomyoma and Neurofibromatosis

PubMed Central

Celik, Orcun; Kozacioglu, Zafer

2018-01-01

Neurofibromatosis Type 1 (Von Recklinghausen disease) is a common, autosomal dominant hereditary disorder characterized by involvement of multiple tissues derived from the neural crest. Urinary system involvement in neurofibromatosis is a rare condition. Leiomyoma of the bladder is a rare benign mesenchymal tumor. In this case, our experience and approach regarding the bladder leiomyoma development in a patient diagnosed with neurofibromatosis are presented and the literature data has been reviewed. PMID:29736289

Developing Autonomous Vehicles That Learn to Navigate by Mimicking Human Behavior

DTIC Science & Technology

2006-09-28

navigate in an unstructured environment to a specific target or location. 15. SUBJECT TERMS autonomous vehicles , fuzzy logic, learning behavior...ANSI-Std Z39-18 Developing Autonomous Vehicles That Learn to Navigate by Mimicking Human Behavior FINAL REPORT 9/28/2006 Dean B. Edwards Department...the future, as greater numbers of autonomous vehicles are employed, it is hoped that lower LONG-TERM GOALS Use LAGR (Learning Applied to Ground Robots

Rare earth element recycling from waste nickel-metal hydride batteries.

PubMed

Yang, Xiuli; Zhang, Junwei; Fang, Xihui

2014-08-30

With an increase in number of waste nickel-metal hydride batteries, and because of the importance of rare earth elements, the recycling of rare earth elements is becoming increasingly important. In this paper, we investigate the effects of temperature, hydrochloric acid concentration, and leaching time to optimize leaching conditions and determine leach kinetics. The results indicate that an increase in temperature, hydrochloric acid concentration, and leaching time enhance the leaching rate of rare earth elements. A maximum rare earth elements recovery of 95.16% was achieved at optimal leaching conditions of 70°C, solid/liquid ratio of 1:10, 20% hydrochloric acid concentration, -74μm particle size, and 100min leaching time. The experimental data were best fitted by a chemical reaction-controlled model. The activation energy was 43.98kJ/mol and the reaction order for hydrochloric acid concentration was 0.64. The kinetic equation for the leaching process was found to be: 1-(1-x)(1/3)=A/ρr0[HCl](0.64)exp-439,8008.314Tt. After leaching and filtration, by adding saturated oxalic solution to the filtrate, rare earth element oxalates were obtained. After removing impurities by adding ammonia, filtering, washing with dilute hydrochloric acid, and calcining at 810°C, a final product of 99% pure rare earth oxides was obtained. Copyright © 2014 Elsevier B.V. All rights reserved.

The Use of Social Media to Recruit Participants With Rare Conditions: Lynch Syndrome as an Example.

PubMed

Burton-Chase, Allison M; Parker, Wendy M; Hennig, Kelsey; Sisson, Faith; Bruzzone, Linda L

2017-01-23

Social media is increasingly being used as a means of recruiting participants, particularly for investigators whose areas of interest involve rare conditions or hard-to-reach populations. However, much of the literature to date has focused on paid advertisement recruitment. We used Lynch syndrome (LS), a rare hereditary cancer syndrome, as a model to demonstrate the successful partnership between researchers and a Web-based patient education and advocacy organization to facilitate participant recruitment. Recruitment was undertaken in partnership with Lynch Syndrome International (LSI), an advocacy organization with a strong social media presence. After LSI published our study information, participants followed up via email or phone call. Following prescreening and consent, interested and eligible participants were then sent a secure survey link. Within 36 hours of a single Facebook post by the site administrators for LSI, over 150 individuals responded via phone or email. Sixty-five individuals were sent the survey link and 57 individuals completed the survey (88% response rate). Of note, these 57 individuals were geographically diverse within the Unites States, representing LS patients from 26 different states. This approach has several advantages, including recruitment through a trusted source outside of a clinical setting, higher response rates, and cost-effectiveness with a small research team in a relatively short amount of time. Overall, social media recruitment with a trusted online partner can be highly effective in hard-to-reach clinical populations, such as patients with LS. However, this approach requires additional effort for eligibility screening. ©Allison M Burton-Chase, Wendy M Parker, Kelsey Hennig, Faith Sisson, Linda L Bruzzone. Originally published in JMIR Research Protocols (http://www.researchprotocols.org), 23.01.2017.

Incubation under fluid dynamic conditions markedly improves the structural preservation in vitro of explanted skeletal muscles.

PubMed

Carton, Flavia; Calderan, Laura; Malatesta, Manuela

2017-11-28

Explanted organs and tissues represent suitable experimental systems mimicking the functional and structural complexity of the living organism, with positive ethical and economic impact on research activities. However, their preservation in culture is generally limited, thus hindering their application as experimental models for biomedical research. In the present study, we investigated the potential of an innovative fluid dynamic culture system to improve the structural preservation in vitro of explanted mouse skeletal muscles (soleus). We used light and transmission electron microscopy to compare the morphological features of muscles maintained either in multiwell plates under conventional conditions or in a bioreactor mimicking the flow of physiological fluids. Our results demonstrate that fluid dynamic conditions markedly slowed the progressive structural deterioration of the muscle tissue occurring during the permanence in the culture medium, prolonging the preservation of some organelles such as mitochondria up to 48 h.

Trapping and dynamic manipulation of polystyrene beads mimicking circulating tumor cells using targeted magnetic/photoacoustic contrast agents

NASA Astrophysics Data System (ADS)

Wei, Chen-Wei; Xia, Jinjun; Pelivanov, Ivan; Hu, Xiaoge; Gao, Xiaohu; O'Donnell, Matthew

2012-10-01

Results on magnetically trapping and manipulating micro-scale beads circulating in a flow field mimicking metastatic cancer cells in human peripheral vessels are presented. Composite contrast agents combining magneto-sensitive nanospheres and highly optical absorptive gold nanorods were conjugated to micro-scale polystyrene beads. To efficiently trap the targeted objects in a fast stream, a dual magnet system consisting of two flat magnets to magnetize (polarize) the contrast agent and an array of cone magnets producing a sharp gradient field to trap the magnetized contrast agent was designed and constructed. A water-ink solution with an optical absorption coefficient of 10 cm-1 was used to mimic the optical absorption of blood. Magnetomotive photoacoustic imaging helped visualize bead trapping, dynamic manipulation of trapped beads in a flow field, and the subtraction of stationary background signals insensitive to the magnetic field. The results show that trafficking micro-scale objects can be effectively trapped in a stream with a flow rate up to 12 ml/min and the background can be significantly (greater than 15 dB) suppressed. It makes the proposed method very promising for sensitive detection of rare circulating tumor cells within high flow vessels with a highly absorptive optical background.

Reverse engineering nuclear properties from rare earth abundances in the r process

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

Mumpower, Matthew Ryan; McLaughlin, G. C.; Surman, R.

The bulk of the rare earth elements are believed to be synthesized in the rapid neutron capture process or r process of nucleosynthesis. The solar r-process residuals show a small peak in the rare earths aroundmore » $$A\\sim 160$$, which is proposed to be formed dynamically during the end phase of the r process by a pileup of material. This abundance feature is of particular importance as it is sensitive to both the nuclear physics inputs and the astrophysical conditions of the main r process. Here, we explore the formation of the rare earth peak from the perspective of an inverse problem, using Monte Carlo studies of nuclear masses to investigate the unknown nuclear properties required to best match rare earth abundance sector of the solar isotopic residuals. When nuclear masses are changed, we recalculate the relevant β-decay properties and neutron capture rates in the rare earth region. The feedback provided by this observational constraint allows for the reverse engineering of nuclear properties far from stability where no experimental information exists. We investigate a range of astrophysical conditions with this method and show how these lead to different predictions in the nuclear properties influential to the formation of the rare earth peak. Finally, we conclude that targeted experimental campaigns in this region will help to resolve the type of conditions responsible for the production of the rare earth nuclei, and will provide new insights into the longstanding problem of the astrophysical site(s) of the r process.« less

Reverse engineering nuclear properties from rare earth abundances in the r process

DOE PAGES

Mumpower, Matthew Ryan; McLaughlin, G. C.; Surman, R.; ...

2017-02-01

The bulk of the rare earth elements are believed to be synthesized in the rapid neutron capture process or r process of nucleosynthesis. The solar r-process residuals show a small peak in the rare earths aroundmore » $$A\\sim 160$$, which is proposed to be formed dynamically during the end phase of the r process by a pileup of material. This abundance feature is of particular importance as it is sensitive to both the nuclear physics inputs and the astrophysical conditions of the main r process. Here, we explore the formation of the rare earth peak from the perspective of an inverse problem, using Monte Carlo studies of nuclear masses to investigate the unknown nuclear properties required to best match rare earth abundance sector of the solar isotopic residuals. When nuclear masses are changed, we recalculate the relevant β-decay properties and neutron capture rates in the rare earth region. The feedback provided by this observational constraint allows for the reverse engineering of nuclear properties far from stability where no experimental information exists. We investigate a range of astrophysical conditions with this method and show how these lead to different predictions in the nuclear properties influential to the formation of the rare earth peak. Finally, we conclude that targeted experimental campaigns in this region will help to resolve the type of conditions responsible for the production of the rare earth nuclei, and will provide new insights into the longstanding problem of the astrophysical site(s) of the r process.« less

Respiratory diseases registries in the national registry of rare diseases.

PubMed

Lara Gallego, Beatriz; Abaitua Borda, Ignacio; Galán Gil, Genaro; Castillo Villegas, Diego; Casanova Espinosa, Álvaro; Cano Jiménez, Esteban; Ojanguren Arranz, Iñigo; Posada de la Paz, Manuel

2014-09-01

This report describes the general characteristics, objectives and organizational aspects of the registries of rare respiratory diseases included in the National Registry of Rare Diseases of the Research Institute for Rare Diseases (ISCIII), in order to publicize their existence and encourage the participation of professionals. Information is collected on the following conditions: alpha-1 antitrypsin deficiency, idiopathic tracheal stenosis, adult pulmonary Langerhans' cell histiocytosis, lymphangioleiomyomatosis, alveolar proteinosis, and sarcoidosis. Copyright © 2013 SEPAR. Published by Elsevier Espana. All rights reserved.

Synthetic mimicking of plant oils and comparison with naturally grown products in polyurethane synthesis.

PubMed

Coles, Stuart R; Barker, Guy; Clark, Andrew J; Kirwan, Kerry; Jacobs, Daniel; Makenji, Kylash; Pink, David

2008-06-11

The use of plant oils as industrial feedstocks can often be hampered by their lack of optimization towards a particular process, as well as their development being risky; growing suitable volumes of crops to test can take up to five years. To circumvent this, we aimed to discover a method that would mimic plant oil profiles in the laboratory, and show that they exhibited similar properties to the naturally grown plant oils in a given process. Using the synthesis of polyurethanes as an example, we have synthesized six different polymers and demonstrated that plant oils will produce polymers with similar physical properties to those oils mimicked in the laboratory. The use of this mimicking process can be extended to other types of polymers to obtain a method for predicting the properties of a given material based on the plant oil composition of a crop before it is grown in bulk.

Tetra-Phocomelia: A Rarest of Rare Case

PubMed Central

Sanjay, S.C.; Krishna, L.; Krishnappa, N.

2015-01-01

We present a rarest of rare case of Tetra-Phocomelia evaluated by antenatal Ultrasonography. It is a condition seen in 0.62 per 100,000 live births. An ultrasonogram was done at 18 wk of pregnancy to assess the fetus and after termination gross specimen was evaluated and X-ray infantograms were done to confirm the findings. The case showed classic Tetra-Phocomelia with limbs like flippers of a seal. Our findings make it rarest of rare as only few cases have been so far reported. PMID:25954680

Analysis of “Favorable Growth Element” Based on Rare Earth-aluminum Composite Mechanism of Compound Process

NASA Astrophysics Data System (ADS)

Hao, Baohong; Zeng, Qihui; Zhao, Jin

2018-01-01

Under the background that failure resulted in by high temperature once only aluminum oxide is used as the gasoline additive. This paper, with the purpose to solve this problem, is to synthesize AcAl oxide for gasoline additive. In order to get the rare-earth-aluminum oxide, first, a complex model of rare earth oxide based on theories about ion coordination is established. Then, by the complex model, the type of “compound growth unit” when rare earth elements join the hydrothermal conditions and the inclination that “diversification” might probably happen are deduced. Depending on the results got by complex model, this paper introduces the type of compound and its existence conditions of “Compound growth unit” owned by stable rare-earth-aluminum oxide. By adjusting the compositions of modifier, compound materials of rare earth-aluminum oxide used for gasoline additive is made. By XRD test, aperture test, adsorption test and desorption test, the theoretical deduction is proved to be right. From the experiment, it is concluded that: a dense environment is the pre-condition to form rare-earth-aluminum polymer, which is also an essential condition for the polymer to update to a favorable growth unit and produce mesoporous rare-earth-aluminum oxide with high activity.

Hydrodynamic resistance parameters for ErPr rare-earth regenerator material under steady and periodic flow conditions

NASA Astrophysics Data System (ADS)

Pathak, M. G.; Helvensteijn, B. P.; Patel, V. C.; Ghiaasiaan, S. M.; Mulcahey, T. I.; Kashani, A.; Feller, J. R.

2014-01-01

The regenerator, typically a microporous structure that is subject to periodic flow of a cryogenic fluid, is a critical component of pulse tube or Stirling cryocoolers, which are widely used for high-demand aerospace and defense applications. In this investigation, experiments were conducted in which steady and oscillatory flows of helium were imposed on ErPr rare-Earth regenerator filler material and mass flow and pressure drop data were recorded under ambient temperature conditions. A computational fluid dynamics (CFD)-assisted method was applied for the analysis and interpretation of the experimental data. The permeability and inertial coefficients that lead to agreement between the experimental data and computational simulations were iteratively obtained. The Darcy permeability and Forchheimer inertial coefficients were obtained and were found to be functions of the system charge pressure, operating frequency, and compressor piston stroke within the studied range of interest. The results also exhibit that the periodic flow hydrodynamic resistance parameters are in general different than steady flow parameters.

Paediatric genomics: diagnosing rare disease in children.

PubMed

Wright, Caroline F; FitzPatrick, David R; Firth, Helen V

2018-05-01

The majority of rare diseases affect children, most of whom have an underlying genetic cause for their condition. However, making a molecular diagnosis with current technologies and knowledge is often still a challenge. Paediatric genomics is an immature but rapidly evolving field that tackles this issue by incorporating next-generation sequencing technologies, especially whole-exome sequencing and whole-genome sequencing, into research and clinical workflows. This complex multidisciplinary approach, coupled with the increasing availability of population genetic variation data, has already resulted in an increased discovery rate of causative genes and in improved diagnosis of rare paediatric disease. Importantly, for affected families, a better understanding of the genetic basis of rare disease translates to more accurate prognosis, management, surveillance and genetic advice; stimulates research into new therapies; and enables provision of better support.

High-altitude cerebral oedema mimicking stroke.

PubMed

Yanamandra, Uday; Gupta, Amul; Patyal, Sagarika; Varma, Prem Prakash

2014-03-26

High-altitude cerebral oedema (HACO) is the most fatal high-altitude illness seen by rural physicians practising in high-altitude areas. HACO presents clinically with cerebellar ataxia, features of raised intracranial pressure (ICP) and coma. Early identification is important as delay in diagnosis can be fatal. We present two cases of HACO presenting with focal deficits mimicking stroke. The first patient presented with left-sided hemiplegia associated with the rapid deterioration in the sensorium. Neuroimaging revealed features suggestive of vasogenic oedema. The second patient presented with monoplegia of the lower limb. Neuroimaging revealed perfusion deficit in anterior cerebral artery territory. Both patients were managed with dexamethasone and they improved dramatically. Clinical picture and neuroimaging closely resembled acute ischaemic stroke in both cases. Thrombolysis in these patients would have been disastrous. Recent travel to high altitude, young age, absence of atherosclerotic risk factors and features of raised ICP concomitantly directed the diagnosis to HACO.

Enterobiasis in Ectopic Locations Mimicking Tumor-Like Lesions

PubMed Central

Pampiglione, Silvio; Rivasi, Francesco

2009-01-01

Both the clinical and the histopathological diagnostic difficulties of oxyuriasis in unusual sites and their importance from a clinical point of view are pointed out. The authors report two ectoptic cases of enterobiasis observed in Northern Italy, one located in a fallopian tube of a 57-year-old woman and the other in a perianal subcutaneous tissue of a 59-year-old man, mimicking tumor-like lesions. The authors take advantage of the occasion to focus the attention of the medical world on this subject, lamenting the scarce importance given to this parasitosis in university courses of medical schools and in medical textbooks as it is incorrectly considered “out-of-fashion.” PMID:20016678

Rare and Unusual Endocrine Cancer Syndromes with Mutated Genes

PubMed Central

Lodish, Maya B.; Stratakis, Constantine A.

2010-01-01

The study of a number of rare familial syndromes associated with endocrine tumor development has led to the identification of genes involved in the development of these tumors. Major advances have been made expanding our understanding of the pathophysiology of these rare endocrine tumors, resulting in the elucidation of causative genes in rare familial diseases and a better understanding of the signaling pathways implicated in endocrine cancers. Recognition of the familial syndrome associated with a particular patient’s endocrine tumor has important implications in terms of prognosis, screening of family members, and screening for associated conditions. PMID:21167385

Pancreatic pseudopapillary tumour: A rare misdiagnosed entity.

PubMed

Affirul, C A; Qisti, F N; Zamri, Z; Azlanuddin, A; Hairol, A O; Razman, J

2014-01-01

Solid pseudo papillary pancreatic tumour is a rare entity. The atypical presentation causes a delayed or misdiagnosis of these pathology. It commonly affects the female population in the 2nd and 3rd decade of life. The presentation varies from non-specific abdominal pain to incidental findings in asymptomatic patients. It is a low-grade premalignant condition that is curable by excision of the tumour. This paper presents a 17-year-old girl with intra-abdominal mass diagnosed with solid pseudo papillary tumour that underwent Whipple's procedure. We discuss the presentations, diagnosis and pathology findings of this rare pathology. The diagnosis remains an enigma in view of the nature and location of the tumour. Resection is still the best choice remains for this condition. Copyright © 2014 The Authors. Published by Elsevier Ltd.. All rights reserved.

Lyme disease presenting with facial palsy and myocarditis mimicking myocardial infarction.

PubMed

Gilson, Julieta; Khalighi, Koroush; Elmi, Farhad; Krishnamurthy, Mahesh; Talebian, Amirsina; Toor, Rubinder S

2017-01-01

A 45-year-old woman presented with a sudden episode of typical chest pain, radiating to her neck. The patient denied premature coronary artery disease in the family. Initial EKG showed normal sinus rhythm with a 1 mm ST-elevation involving lead II and lead aVF and a 1 mm ST-depression in lead V1 with associated T-wave inversion. Initial Troponin I (normal <0.4 ng/mL) and CK-MB (normal <7.7 ng/mL) were elevated at 7.82 ng/mL and 55.2 ng/mL, respectively. Six hours later, Troponin I increased to 13.44 ng/mL and CK-MB to 75.7 ng/mL. The patient underwent cardiac catheterization which did not show any significant obstructive coronary artery disease. Two days later the patient developed right-sided facial palsy. Diagnosis of Lyme disease was confirmed by ELISA with positive IgM and IgG antibodies. Treatment with intravenous ceftriaxone and oral steroids was started. Eventually resolution of symptoms and, normalization of cardiac markers and EKG changes, were achieved. This is a rare case of Lyme myocarditis associated with markedly elevated Troponin I, normal left ventricle function, and an absence of conduction abnormalities. To the best of our knowledge, Lyme myocarditis mimicking acute coronary syndrome with such high levels of Troponin I and neurologic compromise has not been previously described. Lyme myocarditis may be a challenging diagnosis in endemic areas especially in patients with coronary artery disease risk factors, presenting with typical chest pain, EKG changes and positive cardiac biomarkers. Therefore, it should be considered a differential diagnosis in patients presenting with clinical symptoms suggestive of acute coronary syndrome. Abbreviations AV: Atrioventricular; CK-MB: Creatinine Kinase-MB; EKG: Electrocardiogram; ELISA: Enzyme-Linked Immunosorbent Assay; IgG: Immunoglobulin G; IgM: Immunoglobulin M.

Vogt Koyanagi Harada Syndrome mimicking multiple sclerosis: A case report and review of the literature.

PubMed

Algahtani, Hussein; Shirah, Bader; Algahtani, Raghad; Alkahtani, Abdulah; Alwadie, Saeed

2017-02-01

Vogt Koyanagi Harada (VKH) Syndrome, also called uveomeningioencephalitis, is a chronic disorder characterized by inflammation of the uvea, meninges, auditory system, and integumentary system. The association between VKH syndrome and multiple sclerosis (MS) has been reported only once in the literature in a patient who developed VKH syndrome after two years of the diagnosis of MS. In this article, we report a case who was misdiagnosed and treated as MS until she was proven to have VKH syndrome, and a diagnosis of MS was excluded. VKH syndrome is a systemic disorder that may present with clinical and/or radiological features mimicking MS. Applying diagnostic criteria is extremely important for confirming or excluding the diagnosis. Detailed history and physical examination are of paramount importance to score the final diagnosis. Rigorous search for red flags for both conditions is very helpful. Copyright © 2017 Elsevier B.V. All rights reserved.

Primary Segmental Volvulus Mimicking Ileal Atresia

PubMed Central

Rao, Sadashiva; B Shetty, Kishan

2013-01-01

Neonatal intestinal volvulus in the absence of malrotation is a rare occurrence and rarer still is the intestinal volvulus in absence of any other predisposing factors. Primary segmental volvulus in neonates is very rare entity, which can have catastrophic outcome if not intervened at appropriate time. We report two such cases, which were preoperatively diagnosed as ileal atresia and intraoperatively revealed to be primary segmental volvulus of the ileum. PMID:26023426

A rare case of acquired lymphangioma circumscriptum of the penis.

PubMed

Adikari, S; Philippidou, M; Samuel, M

2017-02-01

Acquired lymphangioma circumscriptum is a rare occurrence on the penis. We report a case of a 47-year-old man who presented with a single lesion of acquired lymphangioma circumscriptum on the penis resembling genital warts. We report the case to increase awareness of this rare condition which may mimic sexually transmitted infections such as genital warts.

Adapting Knowledge Translation Strategies for Rare Rheumatic Diseases.

PubMed

Cellucci, Tania; Lee, Shirley; Webster, Fiona

2016-08-01

Rare rheumatic diseases present unique challenges to knowledge translation (KT) researchers. There is often an urgent need to transfer knowledge from research findings into clinical practice to facilitate earlier diagnosis and better outcomes. However, existing KT frameworks have not addressed the specific considerations surrounding rare diseases for which gold standard evidence is not available. Several widely adopted models provide guidance for processes and problems associated with KT. However, they do not address issues surrounding creation or synthesis of knowledge for rare diseases. Additional problems relate to lack of awareness or experience in intended knowledge users, low motivation, and potential barriers to changing practice or policy. Strategies to address the challenges of KT for rare rheumatic diseases include considering different levels of evidence available, linking knowledge creation and transfer directly, incorporating patient and physician advocacy efforts to generate awareness of conditions, and selecting strategies to address barriers to practice or policy change.

Malignant Mesothelioma of Tunica Vaginalis Testis: Macroscopic and Microscopic Features of a Very Rare Malignancy

PubMed Central

Arda, Ersan; Cetin, Gizem; Kuyumcuoğlu, Uğur; Usta, Ufuk

2017-01-01

Malignant mesothelioma of the tunica vaginalis testis (MMTVT) is an extremely rare tumour, usually mimicking benign pathologies of the scrotum. Our case is an 84-year-old male patient who appealed with a painless, left-sided scrotal swelling longer than 2 months. Although the level of tumour markers was normal, ultrasonographic examination results forced us to perform an inguinal scrotal exploration. Multiple small papillary tumours, both on tunica vaginalis and tunica albuginea, were detected intraoperatively. Due to these findings, radical orchiectomy was performed. A pathological evaluation showed malignant mesothelioma (MM) of the tunica vaginalis testis. Exposure to asbestos is a well-known risk factor. Furthermore, a history of trauma, herniorrhaphy and chronic hydroceles is blamed as a possible risk factor. Scrotal ultrasonography is the mainstay of primary diagnosis and, therefore, it should not be overlooked when dealing with benign scrotal cysts or hydroceles, which are very common pathologies at these decades, too. Radical inguinal orchiectomy is the primary treatment choice for localised MMTVT disease, whereas in signs of lymph node metastasis, inguinal lymph node dissection is required. Radical resection should be completed with chemotherapy and/or radiotherapy for an advanced or recurrent disease. This case, which is very rarely reported in the literature and detected during inguinal exploration, along with the pathological works that supported the diagnosis, was presented with this report. PMID:29375946

Intramuscular Dirofilariasis Mimicking an Orbital Metastasis in a Patient with Breast Cancer

PubMed Central

Henderson, Brett M.; Hunt, Christopher H.; Eckel, Laurence J.; Schwartz, Kara M.; Diehn, Felix E.; Pritt, Bobbi S.; Schembri Wismayer, David J.; Garrity, James A.

2012-01-01

We present the unusual case of a 74 year-old female with a history of breast cancer who presented with acute painless orbital swelling and vertical diplopia. MRI revealed a focal enhancing mass within the superior rectus muscle. As the concern for metastatic disease was high, surgical biopsy was performed and revealed an unusual mimicker of metastatic disease, the parasitic infection dirofilariasis. PMID:23008795

Pre-university Chemistry Students in a Mimicked Scholarly Peer Review

NASA Astrophysics Data System (ADS)

van Rens, Lisette; Hermarij, Philip; Pilot, Albert; Beishuizen, Jos; Hofman, Herman; Wal, Marjolein

2014-10-01

Peer review is a significant component in scientific research. Introducing peer review into inquiry processes may be regarded as an aim to develop student understanding regarding quality in inquiries. This study examines student understanding in inquiry peer reviews among pre-university chemistry students, aged 16-17, when they enact a design of a mimicked scholarly peer review. This design is based on a model of a human activity system. Twenty-five different schools in Brazil, Germany, Poland and The Netherlands participated. The students (n = 880) conducted in small groups (n = 428) open inquiries on fermentation. All groups prepared an inquiry report for peer review. These reports were published on a website. Groups were randomly paired in an internet symposium, where they posted review comments to their peers. These responses were qualitatively analyzed on small groups' level of understanding regarding seven categories: inquiry question, hypothesis, management of control variables, accurate measurement, presenting results, reliability of results, discussion and conclusion. The mimicked scholarly review prompted a collective practice. Student understanding was significantly well on presenting results, discussion and conclusion, and significantly less on inquiry question and reliability of results. An enacted design, based on a model of a human activity system, created student understanding of quality in inquiries as well as an insight in a peer-reviewing practice. To what extent this model can be applied in a broader context of design research in science education needs further study.

An evaluation framework for funding drugs for rare diseases.

PubMed

Winquist, Eric; Bell, Chaim M; Clarke, Joe T R; Evans, Gerald; Martin, Janet; Sabharwal, Mona; Gadhok, Anita; Stevenson, Helen; Coyle, Doug

2012-01-01

For rare diseases it may be difficult to generate data from randomized trials to support funding of a drug. Enzyme replacement therapies for diseases of inherited metabolic enzyme deficiency provide an example of this dilemma. The Ontario Public Drug Programs convened the Drugs for Rare Diseases Working Group to develop a policy for assessing these drugs. The Drugs for Rare Diseases Working Group developed terms of reference expecting that the ideal policy product would be transparent and consistent and address unique aspects of the treatment of a specific rare condition while being adaptable to other dissimilar conditions. The perspective was that of a public payer addressing requests for funding generated for a specific drug, and included respect for the principles of "accountability for reasonableness" of Daniels and Sabin. A seven-step framework was developed and tested by using the case study of idursulfase for mucopolysaccharidosis II (Hunter disease). Estimation of clinical effectiveness was done by using decision modeling. The model developed informed funding recommendations and ultimately led to an agreement with the manufacturer allowing funding of idursulfase in Ontario. This policy framework attempts to address the policy challenges of funding drugs for rare diseases. The framework will be used to assess other drugs in future and will inevitably require modification with experience. It is hoped that it may be of value to other policymakers. Copyright © 2012 International Society for Pharmacoeconomics and Outcomes Research (ISPOR). Published by Elsevier Inc. All rights reserved.

Incubation under fluid dynamic conditions markedly improves the structural preservation in vitro of explanted skeletal muscles

PubMed Central

Carton, Flavia; Calderan, Laura; Malatesta, Manuela

2017-01-01

Explanted organs and tissues represent suitable experimental systems mimicking the functional and structural complexity of the living organism, with positive ethical and economic impact on research activities. However, their preservation in culture is generally limited, thus hindering their application as experimental models for biomedical research. In the present study, we investigated the potential of an innovative fluid dynamic culture system to improve the structural preservation in vitro of explanted mouse skeletal muscles (soleus). We used light and transmission electron microscopy to compare the morphological features of muscles maintained either in multiwell plates under conventional conditions or in a bioreactor mimicking the flow of physiological fluids. Our results demonstrate that fluid dynamic conditions markedly slowed the progressive structural deterioration of the muscle tissue occurring during the permanence in the culture medium, prolonging the preservation of some organelles such as mitochondria up to 48 h. PMID:29313601

Primary Localized Vesical Amyloidosis Mimicking Bladder Carcinoma: A Case Report

PubMed Central

Patil, Purwa R.; Warpe, Bhushan M.

2016-01-01

Amyloidosis of urinary bladder is a rare condition and may be primary or secondary in nature. A case of primary localized vesical amyloidosis (VA) in a 40-yr-old man is described which was confused with neoplasm by cystoscopic, urographic and other studies. Surgical specimens obtained by transurethral resection (TUR) were diagnostic and histologically revealed amyloid deposits in sub-epithelial stroma with chronic inflammatory and giant-cell reaction. Congo-red staining proved its amyloid nature. It was resistant to potassium permanganate (KMnO4) pretreatment, indicating it to be of the AL type. PMID:28974964

Unusual Case of Overt Aortic Dissection Mimicking Aortic Intramural Hematoma

PubMed Central

Disha, Kushtrim; Kuntze, Thomas; Girdauskas, Evaldas

2016-01-01

We report an interesting case in which overt aortic dissection mimicked two episodes of aortic intramural hematoma (IMH) (Stanford A, DeBakey I). This took place over the course of four days and had a major influence on the surgical treatment strategy. The first episode of IMH regressed completely within 15 hours after it was clinically diagnosed and verified using imaging techniques. The recurrence of IMH was detected three days thereafter, resulting in an urgent surgical intervention. Overt aortic dissection with evidence of an intimal tear was diagnosed intraoperatively. PMID:27066437

Tissue mimicking materials for the detection of prostate cancer using shear wave elastography: a validation study.

PubMed

Cao, Rui; Huang, Zhihong; Varghese, Tomy; Nabi, Ghulam

2013-02-01

Quantification of stiffness changes may provide important diagnostic information and aid in the early detection of cancers. Shear wave elastography is an imaging technique that assesses tissue stiffness using acoustic radiation force as an alternate to manual palpation reported previously with quasistatic elastography. In this study, the elastic properties of tissue mimicking materials, including agar, polyacrylamide (PAA), and silicone, are evaluated with an objective to determine material characteristics which resemble normal and cancerous prostate tissue. Acoustic properties and stiffness of tissue mimicking phantoms were measured using compressional mechanical testing and shear wave elastography using supersonic shear imaging. The latter is based on the principles of shear waves generated using acoustic radiation force. The evaluation included tissue mimicking materials (TMMs) within the prostate at different positions and sizes that could mimic cancerous and normal prostate tissue. Patient data on normal and prostate cancer tissues quantified using biopsy histopathology were used to validate the findings. Pathologist reports on histopathology were blinded to mechanical testing and elastographic findings. Young's modulus values of 86.2 ± 4.5 and 271.5 ± 25.7 kPa were obtained for PAA mixed with 2% Al(2)O(3) particles and silicone, respectively. Young's modulus of TMMs from mechanical compression testing showed a clear trend of increasing stiffness with an increasing percentage of agar. The silicone material had higher stiffness values when compared with PAA with Al(2)O(3). The mean Young's modulus value in cancerous tissue was 90.5 ± 4.5 kPa as compared to 93.8 ± 4.4 and 86.2 ± 4.5 kPa obtained with PAA with 2% Al(2)O(3) phantom at a depth of 52.4 and 36.6 mm, respectively. PAA mixed with Al(2)O(3) provides the most suitable tissue mimicking material for prostate cancer tumor material, while agar could form the surrounding background to simulate normal

Tissue mimicking materials for the detection of prostate cancer using shear wave elastography: A validation study

PubMed Central

Cao, Rui; Huang, Zhihong; Varghese, Tomy; Nabi, Ghulam

2013-01-01

Purpose: Quantification of stiffness changes may provide important diagnostic information and aid in the early detection of cancers. Shear wave elastography is an imaging technique that assesses tissue stiffness using acoustic radiation force as an alternate to manual palpation reported previously with quasistatic elastography. In this study, the elastic properties of tissue mimicking materials, including agar, polyacrylamide (PAA), and silicone, are evaluated with an objective to determine material characteristics which resemble normal and cancerous prostate tissue. Methods: Acoustic properties and stiffness of tissue mimicking phantoms were measured using compressional mechanical testing and shear wave elastography using supersonic shear imaging. The latter is based on the principles of shear waves generated using acoustic radiation force. The evaluation included tissue mimicking materials (TMMs) within the prostate at different positions and sizes that could mimic cancerous and normal prostate tissue. Patient data on normal and prostate cancer tissues quantified using biopsy histopathology were used to validate the findings. Pathologist reports on histopathology were blinded to mechanical testing and elastographic findings. Results: Young's modulus values of 86.2 ± 4.5 and 271.5 ± 25.7 kPa were obtained for PAA mixed with 2% Al2O3 particles and silicone, respectively. Young's modulus of TMMs from mechanical compression testing showed a clear trend of increasing stiffness with an increasing percentage of agar. The silicone material had higher stiffness values when compared with PAA with Al2O3. The mean Young's modulus value in cancerous tissue was 90.5 ± 4.5 kPa as compared to 93.8 ± 4.4 and 86.2 ± 4.5 kPa obtained with PAA with 2% Al2O3 phantom at a depth of 52.4 and 36.6 mm, respectively. Conclusions: PAA mixed with Al2O3 provides the most suitable tissue mimicking material for prostate cancer tumor material, while agar could form the surrounding

Investigation of Tumor Cell Behaviors on a Vascular Microenvironment-Mimicking Microfluidic Chip

PubMed Central

Huang, Rong; Zheng, Wenfu; Liu, Wenwen; Zhang, Wei; Long, Yunze; Jiang, Xingyu

2015-01-01

The extravasation of tumor cells is a key event in tumor metastasis. However, the mechanism underlying tumor cell extravasation remains unknown, mainly hindered by obstacles from the lack of complexity of biological tissues in conventional cell culture, and the costliness and ethical issues of in vivo experiments. Thus, a cheap, time and labor saving, and most of all, vascular microenvironment-mimicking research model is desirable. Herein, we report a microfluidic chip-based tumor extravasation research model which is capable of simultaneously simulating both mechanical and biochemical microenvironments of human vascular systems and analyzing their synergistic effects on the tumor extravasation. Under different mechanical conditions of the vascular system, the tumor cells (HeLa cells) had the highest viability and adhesion activity in the microenvironment of the capillary. The integrity of endothelial cells (ECs) monolayer was destroyed by tumor necrosis factor-α (TNF-α) in a hemodynamic background, which facilitated the tumor cell adhesion, this situation was recovered by the administration of platinum nanoparticles (Pt-NPs). This model bridges the gap between cell culture and animal experiments and is a promising platform for studying tumor behaviors in the vascular system. PMID:26631692

A population-based registry as a source of health indicators for rare diseases: the ten-year experience of the Veneto Region’s rare diseases registry

PubMed Central

2014-01-01

Background Although rare diseases have become a major public health issue, there is a paucity of population-based data on rare diseases. The aim of this epidemiological study was to provide descriptive figures referring to a sizable group of unrelated rare diseases. Methods Data from the rare diseases registry established in the Veneto Region of north-east Italy (population 4,900,000), referring to the years from 2002 to 2012, were analyzed. The registry is based on a web-based system accessed by different users. Cases are enrolled by two different sources: clinicians working at Centers of expertise officially designated to diagnose and care patients with rare diseases and health professionals working in the local health districts. Deaths of patients are monitored by Death Registry. Results So far, 19,547 patients with rare diseases have been registered, and 23% of them are pediatric cases. The overall raw prevalence of the rare diseases monitored in the population under study is 33.09 per 10,000 inhabitants (95% CI 32.56-33.62), whilst the overall incidence is 3.85 per 10,000 inhabitants (95% CI 3.67-4.03). The most commonly-recorded diagnoses belong to the following nosological groups: congenital malformations (Prevalence: 5.45/10,000), hematological diseases (4.83/10,000), ocular disorders (4.47/10,000), diseases of the nervous system (3.51/10,000), and metabolic disorders (2,95/10,000). Most of the deaths in the study population occur among pediatric patients with congenital malformations, and among adult cases with neurological diseases. Rare diseases of the central nervous system carry the highest fatality rate (71.36/1,000). Rare diseases explain 4.2% of general population Years of Life Lost (YLLs), comparing to 1.2% attributable to infectious diseases and 2.6% to diabetes mellitus. Conclusions Our estimates of the burden of rare diseases at population level confirm that these conditions are a relevant public health issue. Our snapshot of their epidemiology

Oropharyngeal trauma mimicking a first branchial cleft anomaly.

PubMed

Larem, Aisha; Sheikh, Rashid; Al Qahtani, Abdulsalam; Khais, Frat; Ganesan, Shanmugam; Haidar, Hassan

2016-06-01

We present a unique and challenging case of a remnant foreign body that presented to us in a child disguised as a strongly suspected congenital branchial cleft anomaly. This case entailed oropharyngeal trauma, with a delayed presentation as a retroauricular cyst accompanied by otorrhea that mimicked the classic presentation of an infected first branchial cleft anomaly. During surgical excision of the presumed branchial anomaly, a large wooden stick was found in the tract. The diagnostic and therapeutic obstacles in the management of such cases are highlighted. In addition to exploring the existing literature, we retrospectively analyzed a plausible explanation of the findings of this case. Laryngoscope, 126:E224-E226, 2016. © 2015 The American Laryngological, Rhinological and Otological Society, Inc.

Persistent Mullerian Duct Syndrome: a rare entity with a rare presentation in need of multidisciplinary management.

PubMed

Da Aw, Lin; Zain, Murizah M; Esteves, Sandro C; Humaidan, Peter

2016-01-01

A typical male looking adolescent with a legal female gender assignment presented with haematuria. Investigations led to the diagnosis of Persistent Mullerian Duct Syndrome. The condition is indeed a rare entity that needs a multidisciplinar team management. Case hypothesis: A case of Persistent Mullerian Duct Syndrome undiagnosed at birth because karyotyping was defaulted, thus resulting in a significant impact on the legal gender assignment and psychosocial aspects. Promising future implications: The reporting of this case is important to create awareness due to its rarity coupled with the rare presentation with hematuria as a possible masquerade to menstruation. There were not only medical implications, but also psychosocial and legal connotations requiring a holistic multidisciplinary management. Copyright® by the International Brazilian Journal of Urology.

Congenital intrahepatic portosystemic shunt--an incidental rare anomaly.

PubMed

Singh, Kunwarpal; Kapoor, Aprajita; Kapoor, Atul; Gupta, Kamini; Mahajan, Goldaa

2006-12-01

Congenital intrahepatic shunts are rare anomalies that are usually incidental in a child who undergoes an ultrasound examination for some other reasons. Early diagnosis is important, because the condition can lead to hepatic encephalopathy and hypoglycemia. Author's would like to describe the findings of one such patient diagnosed to be having congenital intrahepatic shunt and discuss the clinical importance of this condition.

Ciliates and the rare biosphere-community ecology and population dynamics.

PubMed

Weisse, Thomas

2014-01-01

Application of deep sequencing technologies to environmental samples and some detailed morphological studies suggest that there is a vast, yet unexplored rare ciliate biosphere, tentatively defined in terms of operational taxonomic units. However, very few studies complemented molecular and phylogenetic data with morphological and ecological descriptions of the species inventory. This is mainly because the sampling effort increases strongly with decreasing species abundance. In spite of this limited knowledge, it is clear that species that are rare under certain environmental conditions (temporal rare biosphere) may become abundant when the physical, chemical, and biological variables of their habitat change. Furthermore, some species may always be present in low numbers if their dispersal rates are exceedingly high (accidental rare biosphere). An intriguing question is whether there are some species that are always rare, i.e., in every suitable environment. This permanent rare biosphere is conceptually different from the temporal rare biosphere. This review characterizes typical aquatic habitats of the rare ciliate biosphere, portrays different scenarios under which some or even many species may be permanently rare (background fauna), and identifies some fundamental questions that need to be addressed to achieve a better understanding of the population dynamics of the rare ciliate biosphere. © 2014 The Authors The Journal of Eukaryotic Microbiology published by Wiley Periodicals, Inc. on behalf of International Society of Protistologists.

Non Lipomatous Benign Lesions Mimicking Soft-tissue Sarcomas: A Pictorial Essay

PubMed Central

CORAN, ALESSANDRO; ORSATTI, GIOVANNA; CRIMÌ, FILIPPO; RASTRELLI, MARCO; DI MAGGIO, ANTONIO; PONZONI, ALBERTO; ATTAR, SHADY; STRAMARE, ROBERTO

2018-01-01

The incidental finding of soft tissue masses is a challenge for the radiologist. Benign and malignant lesions can be differentiated relying on patient history, symptoms and mostly with the help of imaging. Ultrasound (US), computed tomography (CT) and magnetic resonance imaging (MRI) become fundamental in order to distinguish these lesions but the radiologist needs to know the main characteristics of benign soft tissue masses and sarcomas. Herein, we present a pictorial review of lesions mimicking soft tissue sarcomas features. PMID:29475903

Rare bone diseases and their dental, oral, and craniofacial manifestations.

PubMed

Foster, B L; Ramnitz, M S; Gafni, R I; Burke, A B; Boyce, A M; Lee, J S; Wright, J T; Akintoye, S O; Somerman, M J; Collins, M T

2014-07-01

Hereditary diseases affecting the skeleton are heterogeneous in etiology and severity. Though many of these conditions are individually rare, the total number of people affected is great. These disorders often include dental-oral-craniofacial (DOC) manifestations, but the combination of the rarity and lack of in-depth reporting often limit our understanding and ability to diagnose and treat affected individuals. In this review, we focus on dental, oral, and craniofacial manifestations of rare bone diseases. Discussed are defects in 4 key physiologic processes in bone/tooth formation that serve as models for the understanding of other diseases in the skeleton and DOC complex: progenitor cell differentiation (fibrous dysplasia), extracellular matrix production (osteogenesis imperfecta), mineralization (familial tumoral calcinosis/hyperostosis hyperphosphatemia syndrome, hypophosphatemic rickets, and hypophosphatasia), and bone resorption (Gorham-Stout disease). For each condition, we highlight causative mutations (when known), etiopathology in the skeleton and DOC complex, and treatments. By understanding how these 4 foci are subverted to cause disease, we aim to improve the identification of genetic, molecular, and/or biologic causes, diagnoses, and treatment of these and other rare bone conditions that may share underlying mechanisms of disease. © International & American Associations for Dental Research.

Rare Bone Diseases and Their Dental, Oral, and Craniofacial Manifestations

PubMed Central

Foster, B.L.; Ramnitz, M.S.; Gafni, R.I.; Burke, A.B.; Boyce, A.M.; Lee, J.S.; Wright, J.T.; Akintoye, S.O.; Somerman, M.J.; Collins, M.T.

2014-01-01

Hereditary diseases affecting the skeleton are heterogeneous in etiology and severity. Though many of these conditions are individually rare, the total number of people affected is great. These disorders often include dental-oral-craniofacial (DOC) manifestations, but the combination of the rarity and lack of in-depth reporting often limit our understanding and ability to diagnose and treat affected individuals. In this review, we focus on dental, oral, and craniofacial manifestations of rare bone diseases. Discussed are defects in 4 key physiologic processes in bone/tooth formation that serve as models for the understanding of other diseases in the skeleton and DOC complex: progenitor cell differentiation (fibrous dysplasia), extracellular matrix production (osteogenesis imperfecta), mineralization (familial tumoral calcinosis/hyperostosis hyperphosphatemia syndrome, hypophosphatemic rickets, and hypophosphatasia), and bone resorption (Gorham-Stout disease). For each condition, we highlight causative mutations (when known), etiopathology in the skeleton and DOC complex, and treatments. By understanding how these 4 foci are subverted to cause disease, we aim to improve the identification of genetic, molecular, and/or biologic causes, diagnoses, and treatment of these and other rare bone conditions that may share underlying mechanisms of disease. PMID:24700690

[Infestation with Enterobius vermicularis mimicking appendicitis].

PubMed

Levens, Afra M A; Schurink, Maarten; Koetse, Harma A; van Baren, Robertine

2014-01-01

Gastrointestinal infestation with the parasite Enterobius vermicularis is common in humans and is usually harmless. Anal pruritus is the most characteristic symptom, but the parasites can cause severe abdominal pain mimicking appendicitis. Early recognition can prevent an unnecessary appendectomy. A six-year-old girl reported to the accident and emergency department with pain in the lower right abdominal region. She was admitted and treated for suspected perforated appendix, following physical examination supplemented with an abdominal CT scan. After antibiotic treatment the symptoms disappeared as did the abscess, apart from a minor amount of residual infiltrate. She was then readmitted twice with recurrent abdominal pain without radiological evidence of an abdominal focus. We decided to conduct a diagnostic laparoscopy and an elective appendectomy à froid. During this procedure living worms were found in the appendix. Treatment with the anthelminthicum mebendazol was effective. Gastro-intestinal infestation with E. vermicularis is very common, especially in young children. This infestation is usually harmless, but can mimic appendicitis. This infestation is easily treatable with mebendazol.

Microfabricated adhesive mimicking gecko foot-hair.

PubMed

Geim, A K; Dubonos, S V; Grigorieva, I V; Novoselov, K S; Zhukov, A A; Shapoval, S Yu

2003-07-01

The amazing climbing ability of geckos has attracted the interest of philosophers and scientists alike for centuries. However, only in the past few years has progress been made in understanding the mechanism behind this ability, which relies on submicrometre keratin hairs covering the soles of geckos. Each hair produces a miniscule force approximately 10(-7) N (due to van der Waals and/or capillary interactions) but millions of hairs acting together create a formidable adhesion of approximately 10 N x cm(-2): sufficient to keep geckos firmly on their feet, even when upside down on a glass ceiling. It is very tempting to create a new type of adhesive by mimicking the gecko mechanism. Here we report on a prototype of such 'gecko tape' made by microfabrication of dense arrays of flexible plastic pillars, the geometry of which is optimized to ensure their collective adhesion. Our approach shows a way to manufacture self-cleaning, re-attachable dry adhesives, although problems related to their durability and mass production are yet to be resolved.

Microfabricated adhesive mimicking gecko foot-hair

NASA Astrophysics Data System (ADS)

Geim, A. K.; Dubonos, S. V.; Grigorieva, I. V.; Novoselov, K. S.; Zhukov, A. A.; Shapoval, S. Yu.

2003-07-01

The amazing climbing ability of geckos has attracted the interest of philosophers and scientists alike for centuries. However, only in the past few years has progress been made in understanding the mechanism behind this ability, which relies on submicrometre keratin hairs covering the soles of geckos. Each hair produces a miniscule force ~10-7 N (due to van der Waals and/or capillary interactions) but millions of hairs acting together create a formidable adhesion of ~10 N cm-2: sufficient to keep geckos firmly on their feet, even when upside down on a glass ceiling. It is very tempting to create a new type of adhesive by mimicking the gecko mechanism. Here we report on a prototype of such 'gecko tape' made by microfabrication of dense arrays of flexible plastic pillars, the geometry of which is optimized to ensure their collective adhesion. Our approach shows a way to manufacture self-cleaning, re-attachable dry adhesives, although problems related to their durability and mass production are yet to be resolved.

Diffuse Peritoneal and Bowel Wall Infiltration by Light Chain-AL Amyloidosis with Omental Calcification Mimicking Abdominal Carcinomatosis - An Elderly Female with Incidental Finding of Light Chain Monoclonal Gammopathy of Undetermined Significance (LC-MGUS).

PubMed

Junejo, Shoaib; Ali, Yasir; Singh Lubana, Sandeep; Tuli, Sandeep S

2017-11-25

BACKGROUND Amyloidosis is the extracellular tissue deposition of plasma proteins, which after conformational changes, forms antiparallel beta pleated sheets of fibrils. Amyloid light-chain (AL) is a type of amyloidosis that is due to deposition of proteins derived from immunoglobulin (Ig) light chains. Gastrointestinal tract (GIT) involvement most often found in amyloid A (AA) amyloidosis type. There have been no reports of obstructive GIT AL amyloid patients having monoclonal gammopathy of undetermined significance (MGUS). Our case is the first case to show two coinciding conditions; one is the association of GIT AL amyloidosis with the incidental finding of a rare type of MGUS (LC-MGUS) and the other is the radiologic presentation of GIT amyloidosis with omental calcification mimicking the GIT malignancy. CASE REPORT A 68-year-old female presented with symptoms of partial bowel obstruction, including intermittent diffuse abdominal pain and constipation. After computed tomography (CT) abdomen and pelvis, an exploratory laparotomy was needed because of suspicion of abdominal carcinomatosis due to diffuse omental calcification. The tissue sent for biopsy surprisingly showed AL amyloidosis. The patient did not report any systemic symptoms. Further workup was advised to inquire about the plasma cell dyscrasia which eventually turned into a very rare version of MGUS knows as light chain MGUS (LC-MGUS). Following adequate resection of the involved structures, the patient was then placed on chemotherapy and successfully went into remission. CONCLUSIONS This case report illustrates that in an era of evidence based medicine, it is important to show through case reports the association of GIT AL amyloidosis with LC-MGUS, as the literature on this topic is lacking. It also points to the importance of timely intervention that can greatly enhance, not only the only the chances of remission but also prevention of further complications such as malignant transformation.

Rare earth fluoride nano-/microstructures: hydrothermal synthesis, luminescent properties and applications.

PubMed

Zhao, Qian; Xu, Zhenhe; Sun, Yaguang

2014-02-01

Rare earth fluoride materials have attracted wide interest and come to the forefront in nanophotonics due to their distinct electrical, optical and magnetic properties as well as their potential applications in diverse fields such as optical telecommunication, lasers, biochemical probes, infrared quantum counters, and medical diagnostics. This review presents a comprehensive overview of the flourishing field of rare earth fluorides materials in the past decade. We summarize the recent research progress on the preparation, morphology, luminescent properties and application of rare earth fluoride-based luminescent materials by hydrothermal systems. Various rare earth fluoride materials are obtained by fine-tuning of experimental conditions, such as capping agents, fluoride source, acidity, temperature and reaction time. The controlled morphology, luminescent properties and application of the rare earth fluorides are briefly discussed with typical examples.

Recommendations for the inclusion of Fabry disease as a rare febrile condition in existing algorithms for fever of unknown origin.

PubMed

Manna, Raffaele; Cauda, Roberto; Feriozzi, Sandro; Gambaro, Giovanni; Gasbarrini, Antonio; Lacombe, Didier; Livneh, Avi; Martini, Alberto; Ozdogan, Huri; Pisani, Antonio; Riccio, Eleonora; Verrecchia, Elena; Dagna, Lorenzo

2017-10-01

Fever of unknown origin (FUO) is a rather rare clinical syndrome representing a major diagnostic challenge. The occurrence of more than three febrile attacks with fever-free intervals of variable duration during 6 months of observation has recently been proposed as a subcategory of FUO, Recurrent FUO (RFUO). A substantial number of patients with RFUO have auto-inflammatory genetic fevers, but many patients remain undiagnosed. We hypothesize that this undiagnosed subgroup may be comprised of, at least in part, a number of rare genetic febrile diseases such as Fabry disease. We aimed to identify key features or potential diagnostic clues for Fabry disease as a model of rare genetic febrile diseases causing RFUO, and to develop diagnostic guidelines for RFUO, using Fabry disease as an example of inserting other rare diseases in the existing FUO algorithms. An international panel of specialists in recurrent fevers and rare diseases, including internists, infectious disease specialists, rheumatologists, gastroenterologists, nephrologists, and medical geneticists convened to review the existing diagnostic algorithms, and to suggest recommendations for arriving at accurate diagnoses on the basis of available literature and clinical experience. By combining specific features of rare diseases with other diagnostic considerations, guidelines have been designed to raise awareness and identify rare diseases among other causes of FUO. The proposed guidelines may be useful for the inclusion of rare diseases in the diagnostic algorithms for FUO. A wide spectrum of patients will be needed to validate the algorithm in different clinical settings.

Uveal Melanoma Mimicking Advanced Coats' Disease in a Young Patient.

PubMed

Gupta, Naina; Terrell, William; Schoenfield, Lynn; Kirsch, Claudia; Cebulla, Colleen M

2016-04-01

To report a case and the unique histopathology of a necrotic uveal melanoma mimicking advanced Coats' disease in a young adult. A 26-year-old male presented with a blind, painful eye, total exudative retinal detachment, and bulbous aneurysms consistent with Coats' disease. No masses were visualized on ultrasound or CT scan, and the patient underwent enucleation of the eye. Histopathology of the involved eye confirmed a necrotic uveal melanoma with persistent spindle cells forming a collar around residual tumor vessels. Careful consideration is needed in approaching any patient with a blind, painful eye and opaque media, even in younger populations.

Rheumatic mitral valve stenosis mimicking advanced lung cancer.

PubMed

von Lueder, Thomas; Steine, Kjetil; Nerdrum, Tone; Steen, Torkel; Bay, Dag; Humerfelt, Sjur; Atar, Dan

2007-09-01

This report describes a patient with a perihilar mass and mediastinal lymphadenopathy mimicking advanced lung cancer. The patient, a 45-year old regular smoker, was admitted to hospital for dyspnea and tachyarrhythmia, and during hospitalization he was diagnosed with severe rheumatic mitral valve stenosis (MVS) and aortic regurgitation as well as pulmonary venous hypertension. Surgical valve replacement and removal of an atrial thrombus was delayed considerably by diagnostic work-up for suspected malignancy. After cardiac surgery had been performed, recovery was uneventful. On follow-up 1 year later, echocardiography showed well-functioning prosthetic mitral and aortic valves, and normal findings on chest X-ray. Perihilar masses and mediastinal lymphadenopathy presented in this case constitute infrequent yet established findings in MVS, resulting from pulmonary venous congestion and hypertension, and focal lymphedema.

Granulosis rubra nasi: a rare condition treated successfully with topical tacrolimus.

PubMed

Kumar, Piyush; Gosai, Anubhav; Mondal, Ashim Kumar; Lal, Niharika Ranjan; Gharami, Ramesh Chandra

2012-01-02

A 20 years-old girl presented with multiple asymptomatic reddish vesicles on face for four years. It used to get worse in summer and was associated with localized hyperhidrosis. The lesions were notable for disappearance on diascopy. Histopathology from the vesicle showed mononuclear cell infiltration in the upper dermis, especially around eccrine sweat apparatus, along with dilatation of superficial capillaries and lymphatics. Based on clinical presentation and histopathology, diagnosis of Granulosis rubra nasi (GRN) was made. GRN usually resolves at puberty; however, rarely it may persist in adulthood. We here report a case of GRN having lesions persisting in adulthood. Moreover, she showed excellent response to topical tacrolimus, a finding not observed in literature.

Synchronic volvulus of splenic flexure and caecum: a very rare cause of large bowel obstruction.

PubMed

Islam, Shariful; Hosein, Devin; Harnarayan, Patrick; Naraynsingh, Vijay

2016-01-18

Colonic volvulus involving the caecum and splenic flexure of the colon is an extremely rare surgical entity and, as a result, it is rarely entertained as a differential diagnosis for large bowel obstruction. The most common site of volvulus is located at the sigmoid colon (75%) followed by caecum (22%). Rare sites of colonic volvulus include the transverse colon (about 2%) and splenic flexure (1-2%). Synchronous double colonic volvulus is very rare. The presentation of this condition can be similar to the signs and symptoms of large bowel obstruction. CT imaging of the abdomen can be diagnostic; however, the diagnosis is often missed due to the rarity of this condition--in such cases, it can only be made at laparotomy. Management of this condition should be expedited to prevent a fatal outcome. We present the case of a 56-year-old woman with synchronous volvulus of the caecum and splenic flexure of the colon. 2016 BMJ Publishing Group Ltd.

A Hepatocyte-Mimicking Antidote for Alcohol Intoxication.

PubMed

Xu, Duo; Han, Hui; He, Yuxin; Lee, Harrison; Wu, Di; Liu, Fang; Liu, Xiangsheng; Liu, Yang; Lu, Yunfeng; Ji, Cheng

2018-04-11

Alcohol intoxication causes serious diseases, whereas current treatments are mostly supportive and unable to remove alcohol efficiently. Upon alcohol consumption, alcohol is sequentially oxidized to acetaldehyde and acetate by the endogenous alcohol dehydrogenase and aldehyde dehydrogenase, respectively. Inspired by the metabolism of alcohol, a hepatocyte-mimicking antidote for alcohol intoxication through the codelivery of the nanocapsules of alcohol oxidase (AOx), catalase (CAT), and aldehyde dehydrogenase (ALDH) to the liver, where AOx and CAT catalyze the oxidation of alcohol to acetaldehyde, while ALDH catalyzes the oxidation of acetaldehyde to acetate. Administered to alcohol-intoxicated mice, the antidote rapidly accumulates in the liver and enables a significant reduction of the blood alcohol concentration. Moreover, blood acetaldehyde concentration is maintained at an extremely low level, significantly contributing to liver protection. Such an antidote, which can eliminate alcohol and acetaldehyde simultaneously, holds great promise for the treatment of alcohol intoxication and poisoning and can provide therapeutic benefits. © 2018 WILEY-VCH Verlag GmbH & Co. KGaA, Weinheim.

MIMICKING COUNTERFACTUAL OUTCOMES TO ESTIMATE CAUSAL EFFECTS.

PubMed

Lok, Judith J

2017-04-01

In observational studies, treatment may be adapted to covariates at several times without a fixed protocol, in continuous time. Treatment influences covariates, which influence treatment, which influences covariates, and so on. Then even time-dependent Cox-models cannot be used to estimate the net treatment effect. Structural nested models have been applied in this setting. Structural nested models are based on counterfactuals: the outcome a person would have had had treatment been withheld after a certain time. Previous work on continuous-time structural nested models assumes that counterfactuals depend deterministically on observed data, while conjecturing that this assumption can be relaxed. This article proves that one can mimic counterfactuals by constructing random variables, solutions to a differential equation, that have the same distribution as the counterfactuals, even given past observed data. These "mimicking" variables can be used to estimate the parameters of structural nested models without assuming the treatment effect to be deterministic.

Non Lipomatous Benign Lesions Mimicking Soft-tissue Sarcomas: A Pictorial Essay.

PubMed

Coran, Alessandro; Orsatti, Giovanna; Crimì, Filippo; Rastrelli, Marco; DI Maggio, Antonio; Ponzoni, Alberto; Attar, Shady; Stramare, Roberto

2018-01-01

The incidental finding of soft tissue masses is a challenge for the radiologist. Benign and malignant lesions can be differentiated relying on patient history, symptoms and mostly with the help of imaging. Ultrasound (US), computed tomography (CT) and magnetic resonance imaging (MRI) become fundamental in order to distinguish these lesions but the radiologist needs to know the main characteristics of benign soft tissue masses and sarcomas. Herein, we present a pictorial review of lesions mimicking soft tissue sarcomas features. Copyright© 2018, International Institute of Anticancer Research (Dr. George J. Delinasios), All rights reserved.

Antimycobacterial Efficacy of Andrographis paniculata Leaf Extracts Under Intracellular and Hypoxic Conditions.

PubMed

Bhatter, Purva; Gupta, Pooja; Daswani, Poonam; Tetali, Pundarikakshudu; Birdi, Tannaz

2015-01-01

The inhibition of the growth of Mycobacterium tuberculosis by the extracts of Andrographis paniculata has been studied using intracellular and axenic hypoxic conditions. The inhibition (confirmed using the gold standard colony forming unit assay) was found to increase with "double stimuli" or higher concentration of the extract. Organic solvent extracts were found to inhibit bacterial growth more than the aqueous extracts under microaerophilic conditions mimicked through axenic and intracellular assays. This could be further explored to evaluate the potential of the plant to be used against nonreplicating/dormant bacilli. © The Author(s) 2014.

[Effects of arbuscular mycorrhizal fungi on the growth and rare earth elements uptake of soybean grown in rare earth mine tailings].

PubMed

Guo, Wei; Zhao, Ren-xin; Zhao, Wen-jing; Fu, Rui-ying; Guo, Jiang-yuan; Zhang, Jun

2013-05-01

A greenhouse pot experiment was conducted to investigate the influence of arbuscular mycorrhizal (AM) fungi Glomus versiforme on the plant growth, nutrient uptake, C: N: P stoichiometric, uptake of heavy metals and rare earth elements by soybean (Glycine max) grown in rare earth mine tailings. The aim was to provide a basis for the revegetation of rare earth mine tailings. The results indicated that soybean had a high mycorrhizal colonization and symbiotic associations were successfully established with G. versiforme, with an average rate of approximately 67%. The colonization of G. versiforme significantly promoted the growth of soybean, increased P, K contents, and decreased C: N: P ratios, supporting the growth rate hypothesis. Inoculation with G. versiforme significantly decreased shoots and roots La, Ce, Pr and Nd concentrations of soybean compared to the control treatment. However, inoculation with G. versiforme had no significant effect on the heavy metal concentrations, except for significantly decreased shoot Fe and Cr concentrations and increased root Cd concentrations. The experiment demonstrates that AM fungi have a potential role for soybean to adapt the composite adversity of rare earth tailings and play a positive role in revegetation of rare earth mine tailings. Further studies on the role of AM fungi under natural conditions should be conducted.

Factitious disorder: a rare cause of haematemesis.

PubMed

McFarlane, Michael; Eaden, Jayne; Burch, Nicola; Disney, Ben

2017-10-01

Acute upper gastrointestinal (GI) bleeding is a common condition in the UK with 50-70,000 admissions per year. In 20% of cases no cause can be found on endoscopy. Here, we present the case of a young female patient who was admitted on three occasions with large volume haematemesis and bleeding from other sites. She was extensively investigated and underwent multiple endoscopic procedures. She was eventually diagnosed with factitious disorder after concerns were raised about the inconsistent nature of her presentations. She was found to be venesecting herself from her intravenous cannula, and ingesting the blood to simulate upper GI bleeding. This is a rare cause of 'haematemesis' but perhaps not as rare as is thought.

Generalized myositis mimicking polymyositis associated with chronic active Epstein-Barr virus infection.

PubMed

Uchiyama, Tomoyuki; Arai, Kimito; Yamamoto-Tabata, Takako; Hirai, Kanji; Kishimoto, Kouji; Nakamura, Yoshiko; Hattori, Takamichi

2005-05-01

Chronic generalized myositis has not so far been reported as a complication of chronic active Epstein-Barr virus infection (CAEBV). We encountered three patients with chronic generalized myositis mimicking polymyositis associated with CAEBV. To clarify the pathological character of this myositis, we investigated the distribution, clonality, and the immunophenotype of EBV-infected cells and lymphocytes infiltrating in muscles. Clinically, two patients showed symmetrical proximal weakness and muscle atrophy as the initial and main symptom. Although the condition resembled polymyositis, they had also lingual and/or orbital myositis. The other patient showed generalized myositis at the late phase of CAEBV. In all of them, immunotherapy was ineffective and prognosis was poor. Intramuscular infiltrating lymphocytes in our patients were mainly CD45RO+, CD3+, CD4-, CD8-, TCR betaF1-, TCR deltaTCS1-, CD56-, CD79a-, CD21-, HLA-DR+, ZEBRA -, LMP1-, and EBER+ T cells. Oligoclonal expansion of EBV-infected T cells was shown in the muscles. However, there were no malignant lymphocytes. This new form of myositis must be distinguished from polymyositis and the other conventional forms of myositis. Careful investigation of hidden CAEBV is recommended when patients present with steroid non-responsive chronic progressive generalized myositis, in particular, with lingual or orbital involvement.

Oxidation mimicking substitution of conservative cysteine in recoverin suppresses its membrane association.

PubMed

Permyakov, Sergei E; Zernii, Evgeni Yu; Knyazeva, Ekaterina L; Denesyuk, Alexander I; Nazipova, Aliya A; Kolpakova, Tatiana V; Zinchenko, Dmitry V; Philippov, Pavel P; Permyakov, Eugene A; Senin, Ivan I

2012-04-01

Recoverin belongs to the family of intracellular Ca(2+)-binding proteins containing EF-hand domains, neuronal calcium sensors (NCS). In photoreceptor outer segments, recoverin is involved into the recovery of visual cycle via Ca(2+)-dependent interaction with disk membranes and inhibition of rhodopsin kinase. The function of a conservative within NCS family Cys residue in the inactive EF-loop 1 remains unclear, but previous study has shown its vulnerability to oxidation under mild oxidizing conditions. To elucidate the influence of oxidation of the conservative Cys39 in recoverin the properties of its C39D mutant, mimicking oxidative conversion of Cys39 into sulfenic, sulfinic or sulfonic acids have been studied using intrinsic fluorescence, circular dichroism, and equilibrium centrifugation methods. The C39D substitution results in essential changes in structural, physico-chemical and physiological properties of the protein: it reduces α-helical content, decreases thermal stability and suppresses protein affinity for photoreceptor membranes. The latter effect precludes proper functioning of the Ca(2+)-myristoyl switch in recoverin. The revealed significance of oxidation state of Cys39 for maintaining the protein functional status shows that it may serve as redox sensor in vision and suggests an explanation of the available data on localization and light-dependent translocation of recoverin in rod photoreceptors.

Nanosecond laser pulses for mimicking thermal effects on nanostructured tungsten-based materials

NASA Astrophysics Data System (ADS)

Besozzi, E.; Maffini, A.; Dellasega, D.; Russo, V.; Facibeni, A.; Pazzaglia, A.; Beghi, M. G.; Passoni, M.

2018-03-01

In this work, we exploit nanosecond laser irradiation as a compact solution for investigating the thermomechanical behavior of tungsten materials under extreme thermal loads at the laboratory scale. Heat flux factor thresholds for various thermal effects, such as melting, cracking and recrystallization, are determined under both single and multishot experiments. The use of nanosecond lasers for mimicking thermal effects induced on W by fusion-relevant thermal loads is thus validated by direct comparison of the thresholds obtained in this work and the ones reported in the literature for electron beams and millisecond laser irradiation. Numerical simulations of temperature and thermal stress performed on a 2D thermomechanical code are used to predict the heat flux factor thresholds of the different thermal effects. We also investigate the thermal effect thresholds of various nanostructured W coatings. These coatings are produced by pulsed laser deposition, mimicking W coatings in tokamaks and W redeposited layers. All the coatings show lower damage thresholds with respect to bulk W. In general, thresholds decrease as the porosity degree of the materials increases. We thus propose a model to predict these thresholds for coatings with various morphologies, simply based on their porosity degree, which can be directly estimated by measuring the variation of the coating mass density with respect to that of the bulk.

Tunable Transmission-Line Metamaterials Mimicking Electromagnetically Induced Transparency

NASA Astrophysics Data System (ADS)

Feng, T. H.; Han, H. P.

2016-11-01

Tunable transmission-line (TL) metamaterials mimicking electromagnetically induced transparency (EIT) have been studied. Firstly, two types of tunable TL EIT-like metamaterial, based on the double split-ring resonator (DSRR) and single split-ring resonator (SSRR), were fabricated and their transmission properties carefully compared. The results showed that the transmittance maximum was almost invariable with shift of the transparency window for the tunable DSRR-based TL EIT-like metamaterial, but for the tunable SSRR-based TL EIT-like metamaterial, the transmittance maximum gradually diminished with shift of the transparency window toward the center of the absorption band. Moreover, the reason for these different transmission properties was explored, revealing that the reduction of the transmittance maximum of the transparency window for the tunable SSRR-based TL EIT-like metamaterial is mainly due to energy loss caused by the resistance of the loaded varactor diodes.

Mimicking Nonequilibrium Steady States with Time-Periodic Driving

NASA Astrophysics Data System (ADS)

Raz, O.; Subaşı, Y.; Jarzynski, C.

2016-04-01

Under static conditions, a system satisfying detailed balance generically relaxes to an equilibrium state in which there are no currents. To generate persistent currents, either detailed balance must be broken or the system must be driven in a time-dependent manner. A stationary system that violates detailed balance evolves to a nonequilibrium steady state (NESS) characterized by fixed currents. Conversely, a system that satisfies instantaneous detailed balance but is driven by the time-periodic variation of external parameters—also known as a stochastic pump (SP)—reaches a periodic state with nonvanishing currents. In both cases, these currents are maintained at the cost of entropy production. Are these two paradigmatic scenarios effectively equivalent? For discrete-state systems, we establish a mapping between nonequilibrium stationary states and stochastic pumps. Given a NESS characterized by a particular set of stationary probabilities, currents, and entropy production rates, we show how to construct a SP with exactly the same (time-averaged) values. The mapping works in the opposite direction as well. These results establish a proof of principle: They show that stochastic pumps are able to mimic the behavior of nonequilibrium steady states, and vice versa, within the theoretical framework of discrete-state stochastic thermodynamics. Nonequilibrium steady states and stochastic pumps are often used to model, respectively, biomolecular motors driven by chemical reactions and artificial molecular machines steered by the variation of external, macroscopic parameters. Our results loosely suggest that anything a biomolecular machine can do, an artificial molecular machine can do equally well. We illustrate this principle by showing that kinetic proofreading, a NESS mechanism that explains the low error rates in biochemical reactions, can be effectively mimicked by a constrained periodic driving.

Sarcoidosis of the cauda equina mimicking Guillain-Barré syndrome.

PubMed

Shah, Jagdish R; Lewis, Richard A

2003-04-15

Neurosarcoidosis is a great mimicker. It is often difficult to diagnose particularly when there is no prior history of systemic sarcoidosis. Although certain sites of the neuraxis are more commonly involved than others, any site of the central or peripheral nervous system can be affected. We report a case of sarcoidosis involving the cauda equina in a 38-year-old African American male without prior history of systemic disease. Initial clinical presentation was suggestive of Guillian-Barré syndrome, but the evaluation proved this case to be neurosarcoidosis involving the cauda equina. We have followed this patient for 8 years, and he remains clinically stable on prednisone 5 mg/day.

A Rare Presentation of Cyclitis Induced Myopia.

PubMed

Ijaz, Umar; Habib, Asad; Rathore, Hassan Sajjad

2018-03-01

Unilateral cyclitis leading to myopia is a rare and clinical relevant entity. In clinical settings, pseudomyopia is generally encountered in the form of accommodative spasm, which is always bilateral. Cyclitis due to inflammation, on the other hand, can cause pseudomyopia unilaterally and it is a very rare presentation. A young male with acute anterior uveitis, presented with acute episode of unilateral myopia. When patient was examined on first visit, there were no cells in anterior chamber; so he was started on cycloplegic eye drops, but his condition didn't improve. Examination on subsequent visit revealed cellular reaction in anterior chamber and narrowing of anterior chamber angles on anterior segment optical coherence tomography (OCT). Treatment for uveitis was started and patient's visual acuity and refractive error improved. Pseudomyopia is a known complication of several drugs and certain medical conditions. The possible mechanism is supraciliary exudation causing relaxation of zonular fibers and increased convexity of the crystalline lens. Myopia in the setting of a mild cellular reaction can easily be missed and has not been reported yet to the best of authors' literature search.

A Review of Current Evidence of Olmesartan Medoxomil Mimicking Symptoms of Celiac Disease.

PubMed

Sanford, Michele L; Nagel, Angela K

2015-04-01

Objective:To review the evidence of an association between olmesartan medoxomil and symptoms mimicking celiac disease.Data Sources:Literature was searched in PubMed (1965-November 2013) using the key words or MeSH terms olmesartan, enteropathy, celiac disease, sprue, and diarrhea. References from the Food and Drug Administration (FDA) and Dipiro's Pharmacotherapy eighth edition textbook were also reviewed.Data Synthesis:There have been recent implications of olmesartan medoxomil being linked to symptoms mimicking celiac disease. Investigators first identified the association in 22 patients who presented with presumed refractory celiac disease. Upon further evaluation, it was discovered that these symptoms improved when olmesartan was discontinued. In response to this report, additional case studies have been published. DeGaetani et al also further analyzed patients with seronegative villous atrophy from the Celiac Disease Center and found that olmesartan accounted for 22% of previously unclassified sprue cases. Conversely, the authors of the ROADMAP trial, which compared olmesartan to placebo, found no significant differences in the incidence of gastrointestinal adverse effects.Conclusions:There is growing evidence supporting the association between olmesartan and sprue-like symptoms; however, further research is warranted. These symptoms can be life threatening and clinicians should be aware of the potential association.

Synthesis and characterization of rare-earth-doped calcium tungstate nanocrystals

NASA Astrophysics Data System (ADS)

Suneeta, P.; Rajesh, Ch.; Ramana, M. V.

2018-02-01

In this paper, we report synthesis and characterization of rare-earth-ion-doped calcium tungstate (CaWO4) nanocrystals (NCs). Rare-earth ions, such as gadolinium (Gd), neodymium (Nd), praseodymium (Pr), samarium (Sm) and holmium (Ho), were successfully doped in the CaWO4 NCs by changing the synthesis conditions. The adopted synthesis route was found to be fast and eco-friendly. Structural characterizations, such as X-ray diffraction (XRD), Fourier transform infrared spectroscopy (FTIR) and compositional analysis, were performed using energy dispersive analysis of X-rays (EDAX) on as-synthesized NCs. The results indicate the size of the NCs ranging between 47 to 68nm and incorporation of rare-earth ions in CaWO4 NCs.

Rare, Intense, Big fires dominate the global tropics under drier conditions.

PubMed

Hantson, Stijn; Scheffer, Marten; Pueyo, Salvador; Xu, Chi; Lasslop, Gitta; van Nes, Egbert H; Holmgren, Milena; Mendelsohn, John

2017-10-30

Wildfires burn large parts of the tropics every year, shaping ecosystem structure and functioning. Yet the complex interplay between climate, vegetation and human factors that drives fire dynamics is still poorly understood. Here we show that on all continents, except Australia, tropical fire regimes change drastically as mean annual precipitation falls below 550 mm. While the frequency of fires decreases below this threshold, the size and intensity of wildfires rise sharply. This transition to a regime of Rare-Intense-Big fires (RIB-fires) corresponds to the relative disappearance of trees from the landscape. Most dry regions on the globe are projected to become substantially drier under global warming. Our findings suggest a global zone where this drying may have important implications for fire risks to society and ecosystem functioning.

The Face of the Chameleon: The Experience of Facial Mimicry for the Mimicker and the Mimickee

PubMed Central

Kulesza, Wojciech Marek; Cisłak, Aleksandra; Vallacher, Robin R.; Nowak, Andrzej; Czekiel, Martyna; Bedynska, Sylwia

2015-01-01

ABSTRACT This research addressed three questions concerning facial mimicry: (a) Does the relationship between mimicry and liking characterize all facial expressions, or is it limited to specific expressions? (b) Is the relationship between facial mimicry and liking symmetrical for the mimicker and the mimickee? (c) Does conscious mimicry have consequences for emotion recognition? A paradigm is introduced in which participants interact over a computer setup with a confederate whose prerecorded facial displays of emotion are synchronized with participants’ behavior to create the illusion of social interaction. In Experiment 1, the confederate did or did not mimic participants’ facial displays of various subsets of basic emotions. Mimicry promoted greater liking for the confederate regardless of which emotions were mimicked. Experiment 2 reversed these roles: participants were instructed to mimic or not to mimic the confederate’s facial displays. Mimicry did not affect liking for the confederate but it did impair emotion recognition. PMID:25811746

Dermatophyte infections mimicking other skin diseases: a 154-person case survey of tinea atypica in the district of Cagliari (Italy).

PubMed

Atzori, Laura; Pau, Monica; Aste, Natalia; Aste, Nicola

2012-04-01

Although usually simple, the diagnosis of dermatophyte infection is sometimes neglected. An observational study has been realized to evaluate the role of corticosteroid exposure (tinea incognito) and of other primary characteristics of the dermatophytosis that from onset mimic other diseases and mislead an unexperienced physician. Between 1990 and 2009, all cases of atypical dermatophytosis mimicking other skin diseases were collected from the more general number of dermatophyte infections diagnosed at the Dermatology Department of Cagliari University, Italy. One-hundred and fifty-four cases (71 male/83 female, 2-81 years old) were studied, with a median of 7 cases/year. The most observed clinical forms were those mimicking impetigo, eczematous dermatitis, lupus erythematosus, polymorphous light eruption, psoriasis, and rosacea. The identified dermatophytes were: Microsporum canis (70 cases), Trichophyton rubrum (43 cases), Trichophyton mentagrophytes var. mentagrophytes (29 cases), Trichophyton mentagrophytes var. interdigitale (six cases), Microsporum gypseum (three cases), Epidermophyton floccosum (two cases), and Trichophyton verrucosum (one case). Diagnostic difficulties are discussed, with special attention to the origin of the pathomorphosis. In our experience, clinical atypia is not a mere consequence of corticosteroid therapy but present at the very onset of the illness, due to the variable dermatophyte invasive capacity, the site of invasion, physiological individual, and/or acquired condition, such as excessive washing or sun exposure. Therefore, we suggest using the term "tinea atypica" rather than "tinea incognito" to include all forms of dermatophytosis that do not present the classic features for both primary and secondary pathomorphosis. © 2012 The International Society of Dermatology.

A biomimetic microfluidic model to study signalling between endothelial and vascular smooth muscle cells under hemodynamic conditions.

PubMed

van Engeland, Nicole C A; Pollet, Andreas M A O; den Toonder, Jaap M J; Bouten, Carlijn V C; Stassen, Oscar M J A; Sahlgren, Cecilia M

2018-05-29

Cell signalling and mechanics influence vascular pathophysiology and there is an increasing demand for in vitro model systems that enable examination of signalling between vascular cells under hemodynamic conditions. Current 3D vessel wall constructs do not recapitulate the mechanical conditions of the native tissue nor do they allow examination of cell-cell interactions under relevant hemodynamic conditions. Here, we describe a 3D microfluidic chip model of arterial endothelial and smooth muscle cells where cellular organization, composition and interactions, as well as the mechanical environment of the arterial wall are mimicked. The hemodynamic EC-VSMC-signalling-on-a-chip consists of two parallel polydimethylsiloxane (PDMS) cell culture channels, separated by a flexible, porous PDMS membrane, mimicking the porosity of the internal elastic lamina. The hemodynamic EC-VSMC-signalling-on-a-chip allows co-culturing of human aortic endothelial cells (ECs) and human aortic vascular smooth muscle cells (VSMCs), separated by a porous membrane, which enables EC-VSMC interaction and signalling, crucial for the development and homeostasis of the vessel wall. The device allows real time cell imaging and control of hemodynamic conditions. The culture channels are surrounded on either side by vacuum channels to induce cyclic strain by applying cyclic suction, resulting in mechanical stretching and relaxation of the membrane in the cell culture channels. The blood flow is mimicked by creating a flow of medium at the EC side. Vascular cells remain viable during prolonged culturing, exhibit physiological morphology and organization and make cell-cell contact. During dynamic culturing of the device with a shear stress of 1-1.5 Pa and strain of 5-8%, VSMCs align perpendicular to the given strain in the direction of the flow and EC adopt a cobblestone morphology. To our knowledge, this is the first report on the development of a microfluidic device, which enables a co-culture of

Linear immunoglobulin A dermatosis mimicking toxic epidermal necrolysis: a case report of etanercept treatment.

PubMed

Prieto-Barrios, M; Velasco-Tamariz, V; Tous-Romero, F; Burillo-Martinez, S; Zarco-Olivo, C; Rodriguez-Peralto, J L; Ortiz-Romero, P L

2018-03-01

A 65-year-old pluripathological woman attended our hospital with a cutaneous eruption of sudden appearance after vancomycin treatment. She presented targetoid lesions affecting approximately 25-30% of her body surface, large erosions with mucosal lesions and positive Nikolsky sign. Under the initial clinical suspicion of toxic epidermal necrolysis (TEN), and considering the recent literature of successful use of etanercept in these cases, she was treated with a single dose of this antitumour necrosis factor (anti-TNF) agent. Subsequently, the exanthema progression stopped and resolution of the lesions happened in a few days. Later on, histopathology revealed a subepidermal blister with dense neutrophilic infiltrate and linear deposits of immunoglobulin A (IgA) on the dermoepidermal junction, allowing us to establish the diagnosis of drug-induced linear IgA dermatosis mimicking TEN. Linear IgA dermatosis can have severe clinical manifestations, even mimicking TEN, and can have high mortality, especially in drug-induced cases. We have not found any other report of linear IgA dermatosis treated with etanercept in the English literature. Anti-TNF medications could represent useful therapeutic alternatives in this dermatosis. © 2017 British Association of Dermatologists.

Rare Earth Oxide Fluoride Nanoparticles And Hydrothermal Method For Forming Nanoparticles

DOEpatents

Fulton, John L.; Hoffmann, Markus M.

2003-12-23

A hydrothermal method for forming nanoparticles of a rare earth element, oxygen and fluorine has been discovered. Nanoparticles comprising a rare earth element, oxygen and fluorine are also described. These nanoparticles can exhibit excellent refractory properties as well as remarkable stability in hydrothermal conditions. The nanoparticles can exhibit excellent properties for numerous applications including fiber reinforcement of ceramic composites, catalyst supports, and corrosion resistant coatings for high-temperature aqueous solutions.

Rare earth oxide fluoride nanoparticles and hydrothermal method for forming nanoparticles

DOEpatents

Fulton, John L [Richland, WA; Hoffmann, Markus M [Richland, WA

2001-11-13

A hydrothermal method for forming nanoparticles of a rare earth element, oxygen and fluorine has been discovered. Nanoparticles comprising a rare earth element, oxygen and fluorine are also described. These nanoparticles can exhibit excellent refractory properties as well as remarkable stability in hydrothermal conditions. The nanoparticles can exhibit excellent properties for numerous applications including fiber reinforcement of ceramic composites, catalyst supports, and corrosion resistant coatings for high-temperature aqueous solutions.

Chemoprevention of Breast Cancer by Mimicking the Protective Effect of Early First Birth

DTIC Science & Technology

2010-06-01

Endocrinol 2002;16:2034–51. 7. Thordarson G, Jin E, Guzman RC, Swanson SM, Nandi S, Talamantes F. Refractoriness to mammary tumori- genesis in parous rats...nitrosourea-induced mammary carcinomas in female Lewis rats. Carcinogenesis 1999;20:623–8. 11. Rajkumar L, Guzman RC, Yang J, Thordarson G...Guzman RC, Yang J, Rajkumar L, Thordarson G, Chen X, Nandi S. Hormonal prevention of breast cancer: mimicking the protective effect of pregnancy. Proc

The Link Between Rare-Earth Peak Formation and the Astrophysical Site of the R Process

DOE PAGES

Mumpower, Matthew R.; McLaughlin, Gail C.; Surman, Rebecca; ...

2016-12-20

The primary astrophysical source of the rare-earth elements is the rapid neutron capture process (r process). The rare-earth peak that is seen in the solar r-process residuals has been proposed to originate as a pile-up of nuclei during the end of the r process. Here, we introduce a new method utilizing Monte Carlo studies of nuclear masses in the rare-earth region, that includes self-consistently adjusting β-decay rates and neutron capture rates, to find the mass surfaces necessary for the formation of the rare-earth peak. We demonstrate our method with two types of astrophysical scenario, one corresponding to conditions typical ofmore » hot winds from core-collapse supernovae and stellar-mass accretion disks, and one corresponding to conditions typical of the ejection of the material from the tidal tails of neutron star mergers. In each type of astrophysical condition, this method successfully locates a region of enhanced stability in the mass surface that is responsible for the rare-earth peak. Finally, for each scenario, we find that the change in the mass surface has qualitatively different features, thus future measurements can shed light on the type of environment in which the r process occurred.« less

The Link Between Rare-Earth Peak Formation and the Astrophysical Site of the R Process

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

Mumpower, Matthew R.; McLaughlin, Gail C.; Surman, Rebecca

The primary astrophysical source of the rare-earth elements is the rapid neutron capture process (r process). The rare-earth peak that is seen in the solar r-process residuals has been proposed to originate as a pile-up of nuclei during the end of the r process. Here, we introduce a new method utilizing Monte Carlo studies of nuclear masses in the rare-earth region, that includes self-consistently adjusting β-decay rates and neutron capture rates, to find the mass surfaces necessary for the formation of the rare-earth peak. We demonstrate our method with two types of astrophysical scenario, one corresponding to conditions typical ofmore » hot winds from core-collapse supernovae and stellar-mass accretion disks, and one corresponding to conditions typical of the ejection of the material from the tidal tails of neutron star mergers. In each type of astrophysical condition, this method successfully locates a region of enhanced stability in the mass surface that is responsible for the rare-earth peak. Finally, for each scenario, we find that the change in the mass surface has qualitatively different features, thus future measurements can shed light on the type of environment in which the r process occurred.« less

Networking for rare diseases: a necessity for Europe.

PubMed

Aymé, S; Schmidtke, J

2007-12-01

Most rare diseases are life-threatening and chronically debilitating conditions, and the vast majority of them are genetically determined. Their individually low prevalence requires special combined efforts to address them so as to improve diagnosis, care and prevention. Though it is difficult to develop a public health policy specific to each rare disease, it is possible to have a global rather than a piecemeal approach in the areas of scientific and biomedical research, drug research and development, industry policy, information and training, social benefits, hospitalisation and outpatient care. In the recent past, several initiatives at EU and Member States levels have been taken and proved efficient in developing suitable solutions which are now having a positive impact on the quality of life of patients. These initiatives are presented here. They include the establishment of Orphanet, a database of rare diseases and orphan drugs providing an encyclopedia of rare diseases and a directory of associated expert services, the funding of research networks to boost the collaboration between research teams, as well as the funding of networks of clinical centres of reference to better serve the patients and contribute to developing clinical research.

Gemcitabine-induced hemolytic uremic syndrome mimicking scleroderma renal crisis presenting with Raynaud's phenomenon, positive antinuclear antibodies and hypertensive emergency.

PubMed

Yamada, Yuichiro; Suzuki, Keisuke; Nobata, Hironobu; Kawai, Hirohisa; Wakamatsu, Ryo; Miura, Naoto; Banno, Shogo; Imai, Hirokazu

2014-01-01

A 58-year-old woman who received gemcitabine for advanced gallbladder cancer developed an impaired renal function, thrombocytopenia, Raynaud's phenomenon, digital ischemic changes, a high antinuclear antibody titer and hypertensive emergency that mimicked a scleroderma renal crisis. A kidney biopsy specimen demonstrated onion-skin lesions in the arterioles and small arteries along with ischemic changes in the glomeruli, compatible with a diagnosis of hypertensive emergency (malignant hypertension). The intravenous administration of a calcium channel blocker, the oral administration of an angiotensin-converting enzyme inhibitor and angiotensin II receptor blocker and the transfusion of fresh frozen plasma were effective for treating the thrombocytopenia and progressive kidney dysfunction. Gemcitabine induces hemolytic uremic syndrome with accelerated hypertension and Raynaud's phenomenon, mimicking scleroderma renal crisis.

Determination of thorium and of rare earth elements in cerium earth minerals and ores

USGS Publications Warehouse

Carron, M.K.; Skinner, D.L.; Stevens, R.E.

1955-01-01

The conventional oxalate method for precipitating thorium and the rare earth elements in acid solution exhibits definite solubilities of these elements. The present work was undertaken to establish conditions overcoming these solubilities and to find optimum conditions for precipitating thorium and the rare earth elements as hydroxides and sebacates. The investigations resulted in a reliable procedure applicable to samples in which the cerium group elements predominate. The oxalate precipitations are made from homogeneous solution at pH 2 by adding a prepared solution of anhydrous oxalic acid in methanol instead of the more expensive crystalline methyl oxalate. Calcium is added as a carrier. Quantitative precipitation of thorium and the rare earth elements is ascertained by further small additions of calcium to the supernatant liquid, until the added calcium precipitates as oxalate within 2 minutes. Calcium is removed by precipitating the hydroxides of thorium and rare earths at room temperature by adding ammonium hydroxide to pH > 10. Thorium is separated as the sebacate at pH 2.5, and the rare earths are precipitated with ammonium sebacate at pH 9. Maximum errors for combined weights of thorium and rare earth oxides on synthetic mixtures are ??0.6 mg. Maximum error for separated thoria is ??0.5 mg.

Tissue-mimicking gel phantoms for thermal therapy studies.

PubMed

Dabbagh, Ali; Abdullah, Basri Johan Jeet; Ramasindarum, Chanthiriga; Abu Kasim, Noor Hayaty

2014-10-01

Tissue-mimicking phantoms that are currently available for routine biomedical applications may not be suitable for high-temperature experiments or calibration of thermal modalities. Therefore, design and fabrication of customized thermal phantoms with tailored properties are necessary for thermal therapy studies. A multitude of thermal phantoms have been developed in liquid, solid, and gel forms to simulate biological tissues in thermal therapy experiments. This article is an attempt to outline the various materials and techniques used to prepare thermal phantoms in the gel state. The relevant thermal, electrical, acoustic, and optical properties of these phantoms are presented in detail and the benefits and shortcomings of each type are discussed. This review could assist the researchers in the selection of appropriate phantom recipes for their in vitro study of thermal modalities and highlight the limitations of current phantom recipes that remain to be addressed in further studies. © The Author(s) 2014.

Mimicking biological stress-strain behaviour with synthetic elastomers

NASA Astrophysics Data System (ADS)

Vatankhah-Varnosfaderani, Mohammad; Daniel, William F. M.; Everhart, Matthew H.; Pandya, Ashish A.; Liang, Heyi; Matyjaszewski, Krzysztof; Dobrynin, Andrey V.; Sheiko, Sergei S.

2017-09-01

Despite the versatility of synthetic chemistry, certain combinations of mechanical softness, strength, and toughness can be difficult to achieve in a single material. These combinations are, however, commonplace in biological tissues, and are therefore needed for applications such as medical implants, tissue engineering, soft robotics, and wearable electronics. Present materials synthesis strategies are predominantly Edisonian, involving the empirical mixing of assorted monomers, crosslinking schemes, and occluded swelling agents, but this approach yields limited property control. Here we present a general strategy for mimicking the mechanical behaviour of biological materials by precisely encoding their stress-strain curves in solvent-free brush- and comb-like polymer networks (elastomers). The code consists of three independent architectural parameters—network strand length, side-chain length and grafting density. Using prototypical poly(dimethylsiloxane) elastomers, we illustrate how this parametric triplet enables the replication of the strain-stiffening characteristics of jellyfish, lung, and arterial tissues.

Stability, denaturation and refolding of Mycobacterium tuberculosis MfpA, a DNA mimicking protein that confers antibiotic resistance

PubMed Central

Khrapunov, Sergei; Brenowitz, Michael

2011-01-01

MfpA from Mycobacterium tuberculosis is a founding member of the pentapeptide repeat class of proteins (PRP) that is believed to confer bacterial resistance to the drug fluoroquinolone by mimicking the size, shape and surface charge of duplex DNA. We show that phenylalanine side chain stacking stabilizes the N-terminus of MfpA’s pentapeptide thus extending the DNA mimicry analogy. The Lumry-Eyring model was applied to multiple spectral measures of MfpA denaturation revealing that the MfpA dimer dissociates to monomers which undergo a structural transition that leads to aggregation. MfpA retains high secondary and tertiary structure content under denaturing conditions. Dimerization stabilizes MfpA’s pentapeptide repeat fold. The high Arrhenius activation energy of the barrier to aggregate formation rationalizes its stability. The mechanism of MfpA denaturation and refolding is a ‘double funnel’ energy landscape where the ‘native’ and ‘aggregate’ funnels are separated by the high barrier that is not overcome during in vitro refolding. PMID:21605934

The importance of international collaboration for rare diseases research: a European perspective

PubMed Central

Julkowska, D; Austin, C P; Cutillo, C M; Gancberg, D; Hager, C; Halftermeyer, J; Jonker, A H; Lau, L P L; Norstedt, I; Rath, A; Schuster, R; Simelyte, E; van Weely, S

2017-01-01

Over the last two decades, important contributions were made at national, European and international levels to foster collaboration into rare diseases research. The European Union (EU) has put much effort into funding rare diseases research, encouraging national funding organizations to collaborate together in the E-Rare program, setting up European Reference Networks for rare diseases and complex conditions, and initiating the International Rare Diseases Research Consortium (IRDiRC) together with the National Institutes of Health in the USA. Co-ordination of the activities of funding agencies, academic researchers, companies, regulatory bodies, and patient advocacy organizations and partnerships with, for example, the European Research Infrastructures maximizes the collective impact of global investments in rare diseases research. This contributes to accelerating progress, for example, in faster diagnosis through enhanced discovery of causative genes, better understanding of natural history of rare diseases through creation of common registries and databases and boosting of innovative therapeutic approaches. Several examples of funded pre-clinical and clinical gene therapy projects show that integration of multinational and multidisciplinary expertize generates new knowledge and can result in multicentre gene therapy trials. International collaboration in rare diseases research is key to improve the life of people living with a rare disease. PMID:28440796

The importance of international collaboration for rare diseases research: a European perspective.

PubMed

Julkowska, D; Austin, C P; Cutillo, C M; Gancberg, D; Hager, C; Halftermeyer, J; Jonker, A H; Lau, L P L; Norstedt, I; Rath, A; Schuster, R; Simelyte, E; van Weely, S

2017-09-01

Over the last two decades, important contributions were made at national, European and international levels to foster collaboration into rare diseases research. The European Union (EU) has put much effort into funding rare diseases research, encouraging national funding organizations to collaborate together in the E-Rare program, setting up European Reference Networks for rare diseases and complex conditions, and initiating the International Rare Diseases Research Consortium (IRDiRC) together with the National Institutes of Health in the USA. Co-ordination of the activities of funding agencies, academic researchers, companies, regulatory bodies, and patient advocacy organizations and partnerships with, for example, the European Research Infrastructures maximizes the collective impact of global investments in rare diseases research. This contributes to accelerating progress, for example, in faster diagnosis through enhanced discovery of causative genes, better understanding of natural history of rare diseases through creation of common registries and databases and boosting of innovative therapeutic approaches. Several examples of funded pre-clinical and clinical gene therapy projects show that integration of multinational and multidisciplinary expertize generates new knowledge and can result in multicentre gene therapy trials. International collaboration in rare diseases research is key to improve the life of people living with a rare disease.

Vitamin D-Dependent Rickets Type 1B (25-Hydroxylase Deficiency): A Rare Condition or a Misdiagnosed Condition?

PubMed

Molin, Arnaud; Wiedemann, Arnaud; Demers, Nick; Kaufmann, Martin; Do Cao, Jérémy; Mainard, Laurent; Dousset, Brigitte; Journeau, Pierre; Abeguile, Geneviève; Coudray, Nadia; Mittre, Hervé; Richard, Nicolas; Weryha, Georges; Sorlin, Arthur; Jones, Glenville; Kottler, Marie-Laure; Feillet, Francois

2017-09-01

Vitamin D requires a two-step activation by hydroxylation: The first step is catalyzed by hepatic 25-hydroxylase (CYP2R1, 11p15.2) and the second one is catalyzed by renal 1α-hydroxylase (CYP27B1, 12q13.1), which produces the active hormonal form of 1,25-(OH) 2 D. Mutations of CYP2R1 have been associated with vitamin D-dependent rickets type 1B (VDDR1B), a very rare condition that has only been reported to affect 4 families to date. We describe 7 patients from 2 unrelated families who presented with homozygous loss-of-function mutations of CYP2R1. Heterozygous mutations were present in their normal parents. We identified a new c.124_138delinsCGG (p.Gly42_Leu46delinsArg) variation and the previously published c.296T>C (p.Leu99Pro) mutation. Functional in vitro studies confirmed loss-of-function enzymatic activity in both cases. We discuss the difficulties in establishing the correct diagnosis and the specific biochemical pattern, namely, very low 25-OH-D suggestive of classical vitamin D deficiency, in the face of normal/high concentrations of 1,25-(OH) 2 D. Siblings exhibited the three stages of rickets based on biochemical and radiographic findings. Interestingly, adult patients were able to maintain normal mineral metabolism without vitamin D supplementation. One index case presented with a partial improvement with 1alfa-hydroxyvitamin D 3 or alfacalcidol (1α-OH-D 3 ) treatment, and we observed a dramatic increase in the 1,25-(OH) 2 D serum concentration, which indicated the role of accessory 25-hydroxylase enzymes. Lastly, in patients who received calcifediol (25-OH-D 3 ), we documented normal 24-hydroxylase activity (CYP24A1). For the first time, and according to the concept of personalized medicine, we demonstrate dramatic improvements in patients who were given 25-OH-D therapy (clinical symptoms, biochemical data, and bone densitometry). In conclusion, the current study further expands the CYP2R1 mutation spectrum. We note that VDDR1B could be easily

THE EVOLUTION OF BET-HEDGING ADAPTATIONS TO RARE SCENARIOS

PubMed Central

King, Oliver D.

2007-01-01

When faced with a variable environment, organisms may switch between different strategies according to some probabilistic rule. In an infinite population, evolution is expected to favor the rule that maximizes geometric mean fitness. If some environments are encountered only rarely, selection may not be strong enough for optimal switching probabilities to evolve. Here we calculate the evolution of switching probabilities in a finite population by analyzing fixation probabilities of alleles specifying switching rules. We calculate the conditions required for the evolution of phenotypic switching as a form of bet-hedging as a function of the population size N, the rateθ at which a rare environment is encountered, and the selective advantage s associated with switching in the rare environment. We consider a simplified model in which environmental switching and phenotypic switching are one-way processes, and mutation is symmetric and rare with respect to the timescale of fixation events. In this case, the approximate requirements for bet-hedging to be favored by a ratio of at least R are that sN > log(R) and θN>R. PMID:17915273

A modified blade element theory for estimation of forces generated by a beetle-mimicking flapping wing system.

PubMed

Truong, Q T; Nguyen, Q V; Truong, V T; Park, H C; Byun, D Y; Goo, N S

2011-09-01

We present an unsteady blade element theory (BET) model to estimate the aerodynamic forces produced by a freely flying beetle and a beetle-mimicking flapping wing system. Added mass and rotational forces are included to accommodate the unsteady force. In addition to the aerodynamic forces needed to accurately estimate the time history of the forces, the inertial forces of the wings are also calculated. All of the force components are considered based on the full three-dimensional (3D) motion of the wing. The result obtained by the present BET model is validated with the data which were presented in a reference paper. The difference between the averages of the estimated forces (lift and drag) and the measured forces in the reference is about 5.7%. The BET model is also used to estimate the force produced by a freely flying beetle and a beetle-mimicking flapping wing system. The wing kinematics used in the BET calculation of a real beetle and the flapping wing system are captured using high-speed cameras. The results show that the average estimated vertical force of the beetle is reasonably close to the weight of the beetle, and the average estimated thrust of the beetle-mimicking flapping wing system is in good agreement with the measured value. Our results show that the unsteady lift and drag coefficients measured by Dickinson et al are still useful for relatively higher Reynolds number cases, and the proposed BET can be a good way to estimate the force produced by a flapping wing system.

Response of a rare endemic, Penstemon clutei, to burning and reduced belowground competition

Treesearch

Peter Z. Fule; Judith D. Springer; David W. Huffman; W. Wallace Covington

2001-01-01

Penstemon clutei, a rare perennial beardtongue endemic to the ponderosa pine forest of the Sunset Crater volcanic field of northern Arizona, presents an opportunity to test the hypothesis that restoration of historic ecosystem conditions may enhance the sustainability of a rare species. We tested prescribed burning and root trenching treatments as proxies for the...

Indirect carotid cavernous fistula mimicking ocular myasthenia.

PubMed

Leishangthem, Lakshmi; Satti, Sudhakar Reddy

2017-10-19

71-year-old woman with progressive left-sided, monocular diplopia and ptosis. Her symptoms mimicked ocular myasthenia, but she had an indirect carotid cavernous fistula (CCF). She was diagnosed with monocular myasthenia gravis (negative acetylcholinesterase antibody) after a positive ice test and started on Mestinon and underwent a thymectomy complicated by a brachial plexus injury. Months later, she developed left-sided proptosis and ocular bruit. She was urgently referred to neuro-interventional surgery and was diagnosed with an indirect high-flow left CCF, which was treated with Onyx liquid and platinum coil embolisation. Mestinon was discontinued. Her ophthalmic symptoms resolved. However, she was left with a residual left arm and hand hemiparesis and dysmetria secondary to a brachial plexus injury. Indirect CCF usually can present with subtle and progressive symptoms leading to delayed diagnosis or misdiagnosis. It is important for ophthalmologists to consider this differential in a patient with progressive ocular symptoms. © 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.

[Acute renal failure: a rare presentation of Addison's disease].

PubMed

Salhi, Houda

2016-01-01

Addison's disease is a rare condition. Its onset of symptoms most often is nonspecific contributing to a diagnostic and therapeutic delay. Acute renal failure can be the first manifestation of this disease. We report the case of a patient with Addison's disease who was initially treated for acute renal failure due to multiple myeloma and whose diagnosis was adjusted thereafter. Patient's condition dramatically improved after treatment with intravenous rehydration; injectable hydrocortisone.

Dental technician pneumoconiosis mimicking pulmonary tuberculosis: a case report.

PubMed

Tan, Han Loong; Faisal, Mohamed; Soo, Chun Ian; Ban, Andrea Y L; Manap, Roslina Abdul; Hassan, Tidi M

2016-09-07

Dental laboratory technicians are at risk of developing occupational respiratory diseases due to exposure to various potentially toxic substances in their working environment. Since 1939, few cases of silicosis among dental technician have been reported. We illustrate a 38 year-old female, who worked in a dental laboratory for 20 years, initially treated as pulmonary tuberculosis and chronic necrotising aspergillosis without much improvement. Computed tomography guided lung biopsy and bronchoscopic transbronchial lung biopsy were performed. Lung tissue biopsies showed presence of refractile dental materials within the areas of histiocyte proliferation. The diagnosis of dental technician pneumoconiosis was obtained and our patient underwent pulmonary rehabilitation. This case highlights the importance of obtaining a detailed occupational history in tuberculosis endemic area, as pulmonary tuberculosis is a great mimicker of other respiratory diseases.

Nerve cell-mimicking liposomes as biosensor for botulinum neurotoxin complete physiological activity

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

Weingart, Oliver G., E-mail: Oliver.Weingart@hest.

Botulinum neurotoxins (BoNT) are the most toxic substances known, and their neurotoxic properties and paralysing effects are exploited for medical treatment of a wide spectrum of disorders. To accurately quantify the potency of a pharmaceutical BoNT preparation, its physiological key activities (binding to membrane receptor, translocation, and proteolytic degradation of SNARE proteins) need to be determined. To date, this was only possible using animal models, or, to a limited extent, cell-based assays. We here report a novel in vitro system for BoNT/B analysis, based on nerve-cell mimicking liposomes presenting motoneuronal membrane receptors required for BoNT binding. Following triggered membrane translocationmore » of the toxin's Light Chain, the endopeptidase activity can be quantitatively monitored employing a FRET-based reporter assay within the functionalized liposomes. We were able to detect BoNT/B physiological activity at picomolar concentrations in short time, opening the possibility for future replacement of animal experimentation in pharmaceutical BoNT testing. - Highlights: • A cell-free in vitro system was used to measure BoNT/B physiological function. • The system relies on nerve-cell mimicking liposomes as a novel detection system. • A FRET-based reporter assay is used as final readout of the test system. • BoNT/B physiological activity was detected at picogram quantities in short time. • The method opens the possibility to replace animal experimentation in BoNT testing.« less

Chemoprevention of Breast Cancer by Mimicking the Protective Effect of Early First Birth

DTIC Science & Technology

2009-06-01

mammary gland. Mol Endocrinol 2002;16:2034–51. 7. Thordarson G, Jin E, Guzman RC, Swanson SM, Nandi S, Talamantes F. Refractoriness to mammary tumori... Thordarson G, Talamantes F, Nandi S. Short-term exposure to preg- nancy levels of estrogen prevents mammary carcino- genesis. Proc Natl Acad Sci U S...A 2001;98:11755–9. 12. Guzman RC, Yang J, Rajkumar L, Thordarson G, Chen X, Nandi S. Hormonal prevention of breast cancer: mimicking the protective

Chemoprevention of Breast Cancer by Mimicking the Protective Effect of Early First Birth

DTIC Science & Technology

2007-06-01

Mol Endocrinol 2002;16:2034–51. 7. Thordarson G, Jin E, Guzman RC, Swanson SM, Nandi S, Talamantes F. Refractoriness to mammary tumori- genesis in...methyl-N - nitrosourea-induced mammary carcinomas in female Lewis rats. Carcinogenesis 1999;20:623–8. 11. Rajkumar L, Guzman RC, Yang J, Thordarson G...11755–9. 12. Guzman RC, Yang J, Rajkumar L, Thordarson G, Chen X, Nandi S. Hormonal prevention of breast cancer: mimicking the protective effect of

Chemoprevention of Breast Cancer by Mimicking the Protective Effect of Early First Birth

DTIC Science & Technology

2011-06-01

Mol Endocrinol 2002;16:2034–51. 7. Thordarson G, Jin E, Guzman RC, Swanson SM, Nandi S, Talamantes F. Refractoriness to mammary tumori- genesis in...methyl-N - nitrosourea-induced mammary carcinomas in female Lewis rats. Carcinogenesis 1999;20:623–8. 11. Rajkumar L, Guzman RC, Yang J, Thordarson G...11755–9. 12. Guzman RC, Yang J, Rajkumar L, Thordarson G, Chen X, Nandi S. Hormonal prevention of breast cancer: mimicking the protective effect of

Creutzfeldt-Jakob Disease Mimicking Alzheimer Disease and Dementia With Lewy Bodies-Findings of FDG PET With 3-Dimensional Stereotactic Surface Projection.

PubMed

Miyazawa, Nobuhiko

2017-05-01

A 78-year-old man received a diagnosis of sporadic Creutzfeldt-Jakob disease based on symptoms and findings of MRI, FDG PET, and cerebrospinal fluid markers. PET with 3-dimensional stereotactic surface projection (3D-SSP) showed that the distribution of hypometabolism mimicked that of Alzheimer disease. A 68-year-old woman was treated under a diagnosis of convulsion. Findings of MRI, PET, familial history, and cerebrospinal fluid markers revealed familial Creutzfeldt-Jakob disease. FDG PET with 3D-SSP disclosed that the hypometabolic pattern mimicked that of dementia with Lewy bodies. FDG PET with 3D-SSP can demonstrate similar patterns in various neurodegenerative disorders.

[Colonic gallstone ileus: A rare cause of intestinal obstruction].

PubMed

Marenco-de la Cuadra, Beatriz; López-Ruiz, José Antonio; Tallón-Aguilar, Luis; López-Pérez, José; Oliva-Mompeán, Fernando

A gallstone colonic ileus is a very rare condition. The case is reported of an 87 year-old patient who came to the Emergency Department due to an intestinal obstruction of several days onset, which was caused by a gallstone affected sigmoid colon. Colonic gallstone ileus is a rare disease that usually occurs in older patients due to the passage of large gallstone directly from the gallbladder to colon, through a cholecystocolonic fistula. It has a high morbidity and mortality. Copyright © 2016 Academia Mexicana de Cirugía A.C. Publicado por Masson Doyma México S.A. All rights reserved.

Toxoplasmosis presenting as a swelling in the axillary tail of the breast and a palpable axillary lymph node mimicking malignancy: a case report.

PubMed

Siriwardana, Hp Priyantha; Teare, Louise; Kamel, Dia; Inwang, E Reggie

2011-08-04

Lymphadenopathy is a common finding in toxoplasmosis. A breast mass due to toxoplasmosis is very rare, and only a few cases have been reported. We present a case of toxoplasmosis that presented as a swelling in the axillary tail of the breast with a palpable axillary lymph node which mimicked breast cancer. A 45-year-old otherwise healthy Caucasian woman presented with a lump on the lateral aspect of her left breast. Her mother had breast cancer that was diagnosed at the age of 66 years. During an examination, we discovered that our patient had a discrete, firm lump in the axillary tail of her left breast and an enlarged, palpable lymph node in her left axilla. Her right breast and axilla were normal. The clinical diagnosis was malignancy in the left breast. Ultrasound and mammographic examinations of her breast suggested a pathological process but were not conclusive. She had targeted fine-needle aspiration cytology (FNAC) and core biopsy of the lesions. FNAC was indeterminate (C3) but suggested a possibility of toxoplasmosis. The core biopsy was not suggestive of malignancy but showed granulomatous inflammation. She had a wide local excision of the breast lump and an axillary lymph node biopsy. Histopathology and immunohistochemical studies excluded carcinoma or lymphoma but suggested the possibility of intramammary and axillary toxoplasmic lymphadenopathy. The results of Toxoplasma gondii IgM and IgG serology tests were positive, supporting a diagnosis of toxoplasmosis. Toxoplasmosis rarely presents as a pseudotumor of the breast. FNAC and histology are valuable tools for a diagnosis of toxoplasmosis, and serology is an important adjunct for confirmation.

Toxoplasmosis presenting as a swelling in the axillary tail of the breast and a palpable axillary lymph node mimicking malignancy: a case report

PubMed Central

2011-01-01

Introduction Lymphadenopathy is a common finding in toxoplasmosis. A breast mass due to toxoplasmosis is very rare, and only a few cases have been reported. We present a case of toxoplasmosis that presented as a swelling in the axillary tail of the breast with a palpable axillary lymph node which mimicked breast cancer. Case presentation A 45-year-old otherwise healthy Caucasian woman presented with a lump on the lateral aspect of her left breast. Her mother had breast cancer that was diagnosed at the age of 66 years. During an examination, we discovered that our patient had a discrete, firm lump in the axillary tail of her left breast and an enlarged, palpable lymph node in her left axilla. Her right breast and axilla were normal. The clinical diagnosis was malignancy in the left breast. Ultrasound and mammographic examinations of her breast suggested a pathological process but were not conclusive. She had targeted fine-needle aspiration cytology (FNAC) and core biopsy of the lesions. FNAC was indeterminate (C3) but suggested a possibility of toxoplasmosis. The core biopsy was not suggestive of malignancy but showed granulomatous inflammation. She had a wide local excision of the breast lump and an axillary lymph node biopsy. Histopathology and immunohistochemical studies excluded carcinoma or lymphoma but suggested the possibility of intramammary and axillary toxoplasmic lymphadenopathy. The results of Toxoplasma gondii IgM and IgG serology tests were positive, supporting a diagnosis of toxoplasmosis. Conclusions Toxoplasmosis rarely presents as a pseudotumor of the breast. FNAC and histology are valuable tools for a diagnosis of toxoplasmosis, and serology is an important adjunct for confirmation. PMID:21816047

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

PubMed Central

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

2016-01-01

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

A case of a large Chiari network mimicking a right atrial thrombus.

PubMed

Erdogan, Sevinc Bayer; Akansel, Serdar; Sargın, Murat; Mete, Muge Evren Tasdemir; Arslanhan, Gokhan; Aka, Serap Aykut

2017-01-01

The Chiari network is described as a reticulated network of fibers connected to the Eustachian valve identified as the embryological remnant of the right valve of the sinus venosus. It is an incidental finding without any significant pathophysiological consequences. However, the presence of the Chiari network in the right atrium obliges the physician to differentiate from other right atrial pathologies. We present a case of a large Chiari network mimicking a right atrial thrombus with incidental finding in a 76-year-old man undergoing coronary artery bypass surgery.

Trouble with ataxia: A longitudinal qualitative study of the diagnosis and medical management of a group of rare, progressive neurological conditions

PubMed Central

Ealing, John; Greenfield, Julie; Kingston, Helen; Sanders, Caroline; Payne, Katherine

2013-01-01

Objectives: An exploratory investigation of diagnosis and management in progressive ataxias: rare neurological conditions usually affecting balance, mobility and speech. Methods: A longitudinal qualitative study into the experiences of people with ataxia and neurologists. Thematic analysis and follow-up interviews were used to determine diagnosis and management issues over time. Results: People with ataxia recruited via two hospital departments and Ataxia UK were interviewed at baseline (n = 38) and 12-month follow-up (n = 31). Eight consultant neurologists were interviewed once. Patient accounts were diverse, but many expressed frustration at having an incurable condition and dissatisfaction with service outcomes. At follow-up, there was variation in their contact and satisfaction with helping agencies. Service issues regarding continuity of care and the primary/secondary care interface were evident. Neurologists’ accounts also varied. One-half reported that there is nothing that can be done, and one-half favoured specialist referral to increase the likelihood of finding an underlying aetiology within budget constraints. Conclusions: Diagnostic uncertainties existing at baseline remained for patients at follow-up interviews, although some had learned to deal with the uncertainties brought by the diagnosis of a largely untreatable condition. Care pathways only seemed to operate in the case of defined conditions, such as Friedreich’s Ataxia, the most commonly inherited cause. The findings point to a need to develop the evidence base to inform the relative utility of diagnostic procedures in the context of finite resources for patient care and support. PMID:26770684

[Rare consciousness disturbances in toxicological practice: akinetic mutism, somnambulism, locked-in syndrome, and psychogenic coma].

PubMed

Ciszowski, Krzysztof; Mietka-Ciszowska, Aneta

2013-01-01

The toxicity of xenobiotics can result inrare disorders of consciousness, such as akinetic mutism and somnambulism as well as syndromes mimicking consciousness disturbances, such as locked-in syndrome and psychogenic coma. Akinetic mutism is a condition characterized by a lack of spontaneous movements and little or no vocalization. Somnambulism include performing of complex motor activity in an automatic manner during deep sleep, without any awareness of its execution. The locked-in syndrome is a state with quadriplegia coexisting with cranial nerves palsies and mutism, but with fully preserved consciousness. Psychogenic coma is a condition in which the patient has preserved level of consciousness and awareness, but does not communicate with theenvironment and does not exhibit the external manifestations of consciousness. This paper presents the etiology, clinical characteristics, as well as diagnostic and therapeutic issues for the above syndromes.

China's rare-earth industry

USGS Publications Warehouse

Tse, Pui-Kwan

2011-01-01

Introduction China's dominant position as the producer of over 95 percent of the world output of rare-earth minerals and rapid increases in the consumption of rare earths owing to the emergence of new clean-energy and defense-related technologies, combined with China's decisions to restrict exports of rare earths, have resulted in heightened concerns about the future availability of rare earths. As a result, industrial countries such as Japan, the United States, and countries of the European Union face tighter supplies and higher prices for rare earths. This paper briefly reviews China's rare-earth production, consumption, and reserves and the important policies and regulations regarding the production and trade of rare earths, including recently announced export quotas. The 15 lanthanide elements-lanthanum, cerium, praseodymium, neodymium, promethium, samarium, europium, gadolinium, terbium, dysprosium, holmium, erbium, thulium, ytterbium, and lutetium (atomic numbers 57-71)-were originally known as the rare earths from their occurrence in oxides mixtures. Recently, some researchers have included two other elements-scandium and yttrium-in their discussion of rare earths. Yttrium (atomic number 39), which lies above lanthanum in transition group III of the periodic table and has a similar 3+ ion with a noble gas core, has both atomic and ionic radii similar in size to those of terbium and dysprosium and is generally found in nature with lanthanides. Scandium (atomic number 21) has a smaller ionic radius than yttrium and the lanthanides, and its chemical behavior is intermediate between that of aluminum and the lanthanides. It is found in nature with the lanthanides and yttrium. Rare earths are used widely in high-technology and clean-energy products because they impart special properties of magnetism, luminescence, and strength. Rare earths are also used in weapon systems to obtain the same properties.

VGKC positive autoimmune encephalopathy mimicking dementia.

PubMed

Molloy, Anna; Cassidy, Eugene; Ryan, Aisling; O' Toole, Orna

2011-12-01

Voltage gated potassium channel antibodies (VGKC Abs) are known to cause three rare neurological syndromes- neuromyotonia, Morvan's syndrome and limbic encephalitis although an increasing array of other associated neurological symptoms are becoming recognised. The authors describe the case of a 60-year-old female who presented to the neurology clinic with an apparent early onset dementing process. She was noted to have both extrapyramidal and frontal release signs on examination and was admitted for further evaluation. Her dementia investigation including a neoplastic screen was negative except for VGKC antibody positivity. Her symptoms dramatically improved with commencement of immunosuppression. A non-paraneoplastic VGKC antibody associated dementia-like syndrome has rarely been described. The authors add to the few existing reports of what represents an important reversible cause of cognitive impairment.

VGKC positive autoimmune encephalopathy mimicking dementia

PubMed Central

Molloy, Anna; Cassidy, Eugene; Ryan, Aisling; O’ Toole, Orna

2011-01-01

Voltage gated potassium channel antibodies (VGKC Abs) are known to cause three rare neurological syndromes- neuromyotonia, Morvan’s syndrome and limbic encephalitis although an increasing array of other associated neurological symptoms are becoming recognised. The authors describe the case of a 60-year-old female who presented to the neurology clinic with an apparent early onset dementing process. She was noted to have both extrapyramidal and frontal release signs on examination and was admitted for further evaluation. Her dementia investigation including a neoplastic screen was negative except for VGKC antibody positivity. Her symptoms dramatically improved with commencement of immunosuppression. A non-paraneoplastic VGKC antibody associated dementia-like syndrome has rarely been described. The authors add to the few existing reports of what represents an important reversible cause of cognitive impairment. PMID:22674939

Prediction and Measurement of Temperature Rise Induced by High Intensity Focused Ultrasound in a Tissue-Mimicking Phantom

NASA Astrophysics Data System (ADS)

Lee, Kang Il

2018-06-01

The present study aims to predict the temperature rise induced by high intensity focused ultrasound (HIFU) in soft tissues to assess tissue damage during HIFU thermal therapies. With the help of a MATLAB-based software package developed for HIFU simulation, the HIFU field was simulated by solving the axisymmetric Khokhlov-Zabolotskaya-Kuznetsov (KZK) equation from the frequency-domain perspective, and the HIFU-induced temperature rise in a tissue-mimicking phantom was simulated by solving Pennes' bioheat transfer (BHT) equation. In order to verify the simulation results, we performed in-vitro heating experiments on a tissue-mimicking phantom by using a 1.1-MHz, single-element, spherically focused HIFU transducer. The temperature rise near the focal spot obtained from the HIFU simulator was in good agreement with that from the in-vitro experiments. This confirms that the HIFU simulator based on the KZK and the BHT equations captures the HIFU-induced temperature rise in soft tissues well enough to make it suitable for HIFU treatment planning.

Use of chemostat cultures mimicking different phases of wine fermentations as a tool for quantitative physiological analysis

PubMed Central

2014-01-01

Background Saccharomyces cerevisiae is the most relevant yeast species conducting the alcoholic fermentation that takes place during winemaking. Although the physiology of this model organism has been extensively studied, systematic quantitative physiology studies of this yeast under winemaking conditions are still scarce, thus limiting the understanding of fermentative metabolism of wine yeast strains and the systematic description, modelling and prediction of fermentation processes. In this study, we implemented and validated the use of chemostat cultures as a tool to simulate different stages of a standard wine fermentation, thereby allowing to implement metabolic flux analyses describing the sequence of metabolic states of S. cerevisae along the wine fermentation. Results Chemostat cultures mimicking the different stages of standard wine fermentations of S. cerevisiae EC1118 were performed using a synthetic must and strict anaerobic conditions. The simulated stages corresponded to the onset of the exponential growth phase, late exponential growth phase and cells just entering stationary phase, at dilution rates of 0.27, 0.04, 0.007 h−1, respectively. Notably, measured substrate uptake and product formation rates at each steady state condition were generally within the range of corresponding conversion rates estimated during the different batch fermentation stages. Moreover, chemostat data were further used for metabolic flux analysis, where biomass composition data for each condition was considered in the stoichiometric model. Metabolic flux distributions were coherent with previous analyses based on batch cultivations data and the pseudo-steady state assumption. Conclusions Steady state conditions obtained in chemostat cultures reflect the environmental conditions and physiological states of S. cerevisiae corresponding to the different growth stages of a typical batch wine fermentation, thereby showing the potential of this experimental approach to

Synchrony and motor mimicking in chimpanzee observational learning

PubMed Central

Fuhrmann, Delia; Ravignani, Andrea; Marshall-Pescini, Sarah; Whiten, Andrew

2014-01-01

Cumulative tool-based culture underwrote our species' evolutionary success, and tool-based nut-cracking is one of the strongest candidates for cultural transmission in our closest relatives, chimpanzees. However the social learning processes that may explain both the similarities and differences between the species remain unclear. A previous study of nut-cracking by initially naïve chimpanzees suggested that a learning chimpanzee holding no hammer nevertheless replicated hammering actions it witnessed. This observation has potentially important implications for the nature of the social learning processes and underlying motor coding involved. In the present study, model and observer actions were quantified frame-by-frame and analysed with stringent statistical methods, demonstrating synchrony between the observer's and model's movements, cross-correlation of these movements above chance level and a unidirectional transmission process from model to observer. These results provide the first quantitative evidence for motor mimicking underlain by motor coding in apes, with implications for mirror neuron function. PMID:24923651

Retroperitoneal Pseudoaneurysm Mimicking Ureteral Calculus: Pitfalls in Diagnosis.

PubMed

Kalabin, Aleksandr; Mani, Vishnu R; Dinesh, Anant; Landa, Marina; Davis-Joseph, Brian

2017-10-08

Arterial aneurysms (AA) can be classified as true aneurysms, characterized by the persistence of all three layers of the arterial wall with progressive dilation and wall thinning; arterial pseudoaneurysms (APAs) are characterized by a tear in the vessel wall and a periarterial hematoma formation. They could occur due to a visceral, retroperitoneal, or peripheral origin. Most AA/APA are usually found incidentally, and it is imperative to be vigilant in order to diagnose and manage them due to their potentially life-threatening complications. We present a case of a 35-year-old woman presenting with right-sided abdominal pain mimicking renal colic with an initial misdiagnosis of ureteral calculus. Post-cystoscopy, a misdiagnosis was confirmed, and subsequently, the patient had a right retroperitoneal mass excision. The histopathology report concluded the calcified retroperitoneal mass to be pseudoaneurysm. Such pitfalls in diagnosis are essential to be shared with the larger medical community for increased vigilance and optimal management of pseudoaneurysms.

Synchrony and motor mimicking in chimpanzee observational learning.

PubMed

Fuhrmann, Delia; Ravignani, Andrea; Marshall-Pescini, Sarah; Whiten, Andrew

2014-06-13

Cumulative tool-based culture underwrote our species' evolutionary success, and tool-based nut-cracking is one of the strongest candidates for cultural transmission in our closest relatives, chimpanzees. However the social learning processes that may explain both the similarities and differences between the species remain unclear. A previous study of nut-cracking by initially naïve chimpanzees suggested that a learning chimpanzee holding no hammer nevertheless replicated hammering actions it witnessed. This observation has potentially important implications for the nature of the social learning processes and underlying motor coding involved. In the present study, model and observer actions were quantified frame-by-frame and analysed with stringent statistical methods, demonstrating synchrony between the observer's and model's movements, cross-correlation of these movements above chance level and a unidirectional transmission process from model to observer. These results provide the first quantitative evidence for motor mimicking underlain by motor coding in apes, with implications for mirror neuron function.

The Not-So-Rare Earths.

ERIC Educational Resources Information Center

Muecke, Gunter K.; Moller, Peter

1988-01-01

Describes the characteristics of rare earth elements. Details the physical chemistry of rare earths. Reviews the history of rare earth chemistry and mineralogy. Discusses the mineralogy and crystallography of the formation of rare earth laden minerals found in the earth's crust. Characterizes the geologic history of rare earth elements. (CW)

Mining with Rare Cases

NASA Astrophysics Data System (ADS)

Weiss, Gary M.

Rare cases are often the most interesting cases. For example, in medical diagnosis one is typically interested in identifying relatively rare diseases, such as cancer, rather than more frequently occurring ones, such as the common cold. In this chapter we discuss the role of rare cases in Data Mining. Specific problems associated with mining rare cases are discussed, followed by a description of methods for addressing these problems.

Development of a Tissue-Mimicking Phantom for Evaluating the Focusing Performance of High Intensity Focused Ultrasound

NASA Astrophysics Data System (ADS)

Zongyu, Jing; Faqi, Li; Jiangzhong, Zou; Zhibiao, Wang

2006-05-01

Objectives: To develop a tissue mimicking phantom which can be used to evaluate the focusing performance of the HIFU transducer, and the phantom should has the same acoustic characteristic and thermotics characteristic as the biological tissue. Materials and methods: The tissue mimicking phantom was made from water, gelatin, fresh biologic tissue Its ultrasonic parameters (attenuation coefficient) of the phantom was measured by the method of radiation pressure, and thermotics parameters of the phantom, including thermal conductivity, specific heat/fusion point et al were tested under the Measurement meter. The HIFU biological effect of the phantom was evaluated under the Model JC focused ultrasound tumor therapeutic system, developed and produced by Chongqing HIFU Technology Co. Ltd (working frequency: 0.7MHz; acoustic power: 200W; focal distance: 135mm; Acoustic focal region: 3×3×25 cubic mm). Results: The self-made phantom is sable, has smooth and glossy appearance, well-distributed construction, and good elasticity. We measured the followed values for acoustic and thermal properties: density 1049±2 kg/m3; attenuation 0.532±0.017 dB/cm (0.8 MHz), 0.612±0.021 dB/cm (1.0 MHz); thermal conductivity 0.76±0.08 W/m/-°C; specific heat 3653±143 J/kg-°C; fusion point154±8°C. The BFR induced in the phantom after HIFU exposure was stable in its size and appearance. Conclusion: We produced and improved one tissue mimicking phantom successfully which had semblable ultrasound and thermphysical properties like the soft tissue, and can replace the bovine liver to investigate the HIFU biological effect and to detect the focusing performance of the HIFU energy transducer. The research was supported by Chongqing University of Medical Science (CX200320).

Deriving a blood-mimicking fluid for particle image velocimetry in Sylgard-184 vascular models.

PubMed

Yousif, Majid Y; Holdsworth, David W; Poepping, Tamie L

2009-01-01

A new blood-mimicking fluid (BMF) has been developed for particle image velocimetry (PIV), which enables flow studies in vascular models (phantoms). A major difficulty in PIV that affects measurement accuracy is the refraction and distortion of light passing through the interface between the model and the fluid, due to the difference in refractive index (n) between the two materials. The problem can be eliminated by using a fluid with a refractive index matching that of the model. Such fluids are not commonly available, especially for vascular research where the fluid should also have a viscosity similar to human blood. In this work, a blood-mimicking fluid, composed of water (47.38% by weight), glycerol (36.94% by weight) and sodium iodide salt (15.68% by weight), was developed for compatibility with our silicone (Sylgard 184; n = 1.414) phantoms. The fluid exhibits a dynamic viscosity of 4.31+/-0.03 cP which lies within the range of human blood viscosity (4.4+/-0.6 cP). Both refractive index and viscosity were attained at 22.2+/-0.2 degrees C, which is a feasible room temperature, thus eliminating the need for a temperature-control system. The fluid will be used to study hemodynamics in vascular flow models fabricated from Sylgard 184.

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

PubMed

Feeser, Dianne L

2011-01-01

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

Gallbladder Polyp Mimicking an Obstructive Calculus

PubMed Central

Bass, James; Fegelman, Ronald H.

1978-01-01

The second documented case of obstructing polyp of the gallbladder—an extremely rare lesion—is presented. Symptoms were indistinguishable from those of acute obstructive cholecystitis. The mechanism of obstruction is hypothesized. ImagesFigure 1 PMID:702555

Rare cancers: Challenges & issues.

PubMed

Pillai, Raveendran K; Jayasree, K

2017-01-01

Rare cancers account for about 22 per cent of all cancers diagnosed worldwide, disproportionately affecting some demographic groups, with an occurrence of less than 6 per 100,000 individuals annually. Many rare cancers in adults, adolescents and children are not curable, and patients and care providers have little option to take therapeutic decisions. The epidemiology of rare cancers is a challenging area of study but is inadequately addressed. Despite efforts mainly in some European nations, a few improvements have been observed in the management of rare cancers. Reasons for this obvious stagnation are multifactorial and are mainly inherent to logistical difficulties in carrying out clinical trials in very small patient populations, hesitation of the pharmaceutical industry to spend in small markets and complexity in creating adequate information for the development of cost-effective drugs. Rare cancers also face specific challenges that include late and incorrect diagnosis, lack of clinical expertise and lack of research interest and development of new therapies. The utilization of nationally representative study findings for the patients' evaluation may possibly offer chances to find out pathogenesis and prevalence, and this will eventually lead to control and prevention. Currently, advancing targeted therapies offer a great opportunity for the better management of rare cancers. Conducting clinical trials with small patient population, innovative clinical trial approach, prevailing controlling obstacles for international cooperation and financial support for research are the present challenges for rare cancers. The International Rare Cancers Initiative functions as a main platform for achieving new international clinical trials in rare tumours. This review delineates the current challenges and issues in the interpretation, management and research scenarios of rare cancers.

Rare cancers: Challenges & issues

PubMed Central

Pillai, Raveendran K.; Jayasree, K.

2017-01-01

Rare cancers account for about 22 per cent of all cancers diagnosed worldwide, disproportionately affecting some demographic groups, with an occurrence of less than 6 per 100,000 individuals annually. Many rare cancers in adults, adolescents and children are not curable, and patients and care providers have little option to take therapeutic decisions. The epidemiology of rare cancers is a challenging area of study but is inadequately addressed. Despite efforts mainly in some European nations, a few improvements have been observed in the management of rare cancers. Reasons for this obvious stagnation are multifactorial and are mainly inherent to logistical difficulties in carrying out clinical trials in very small patient populations, hesitation of the pharmaceutical industry to spend in small markets and complexity in creating adequate information for the development of cost-effective drugs. Rare cancers also face specific challenges that include late and incorrect diagnosis, lack of clinical expertise and lack of research interest and development of new therapies. The utilization of nationally representative study findings for the patients’ evaluation may possibly offer chances to find out pathogenesis and prevalence, and this will eventually lead to control and prevention. Currently, advancing targeted therapies offer a great opportunity for the better management of rare cancers. Conducting clinical trials with small patient population, innovative clinical trial approach, prevailing controlling obstacles for international cooperation and financial support for research are the present challenges for rare cancers. The International Rare Cancers Initiative functions as a main platform for achieving new international clinical trials in rare tumours. This review delineates the current challenges and issues in the interpretation, management and research scenarios of rare cancers. PMID:28574010

Toxoplasma lymphadenitis mimicking malign axillary lymphadenopathy of a left breast mass.

PubMed

Yildirim, Ali Cihat; Bostanci, Hasan; Yilmaz, Engin Deniz; Kutluer, Nizamettin; Kargici, Hulagu

2013-06-01

Toxoplasmosis is an infection caused by the intracellular parasite, Toxoplasma gondii. Immunocompetent persons with primary infection are usually asymptomatic, but latent infection can persist for the life of the host. There is a risk of reactivating infection at a later time should the individual become immunocompromised, even if infection was asymptomatic or only mildly symptomatic initially. Axillary lymph nodes receive 85% of the lymphatic drainage from the breast. Lymph node metastases are relatively common even with invasive breast cancers ≤1 cm in size. Here, we report a case of toxoplasma lymphadenitis in a female adult patient mimicking a malign breast lymphadenopathy of a left breast mass.

Unique Migraine Subtypes, Rare Headache Disorders, and Other Disturbances.

PubMed

Goadsby, Peter J

2015-08-01

The medical aphorism that common things happen commonly makes unique (and less common) migraine subtypes especially appropriate to review for the general neurologist. This article also identifies some rare headache disorders and other disturbances, and offers strategies to manage them. This article discusses migraine with brainstem aura, which is troublesome clinically and has had a change in terminology in the International Classification of Headache Disorders, Third Edition, beta version (ICHD-3 beta), and hemiplegic migraine, which is also troublesome in practice. The rare headache disorder hypnic headache and the exploding head syndrome are also discussed. When hypnic headache is recognized, it is eminently treatable, while exploding head syndrome is a benign condition with no reported consequences. Unique migraine subtypes, rare headache disorders, and other disturbances present to neurologists. When recognized, they can often be managed very well, which offers significant benefits to patients and practice satisfaction to neurologists.

A rare presentation of hepatocellular carcinoma in non-cirrhotic liver.

PubMed

Kabbage, Lamia; El Kouhen, Meryem; Taghy, Ahmed; Znati, Kaoutar; Kabbaj, Nawal

2017-01-01

Hepatocellular carcinoma is the most frequent type of liver malignancy. Most cases of hepatocellular carcinoma are secondary to either viral hepatitis (hepatitis B, C) or alcoholic cirrhosis. Liver cirrhosis due to any other causes is considered as a risk factor for development of hepatocellular carcinoma; however, hepatocellular carcinoma in non cirrhotic livers remains a rare condition. The present case report describes a 59-year-old woman patient admitted to explore right hypochondriac and epigastric pain, with no evidence of pre-existing liver disease and with a good general condition. The computed tomography was very suggestive of a gastro-intestinal stromal tumor. But, at laparotomy, a huge hepatic tumor was discovered. Histopathological study confirmed the presence of primary hepatocellular carcinoma. Hepatocellular carcinoma occurs more frequently on a cirrhotic liver. However, it can occur on a non cirrhotic liver and remains and extremely rare case.

Rare combination of left-sided congenital diaphragmatic hernia and omphalocele.

PubMed

Chee, Yuet Yee; Wong, Siu Chun Mabel; Wong, Ming Sum Rosanna

2017-08-07

We reported a rare case of left-sided posterolateral congenital diaphragmatic hernia (CDH) and omphalocele, which is not associated with chromosomal abnormalities or other syndromes. Omphalocele was detected antenatally (CDH was not detected in antenatal ultrasound). The patient suffered from respiratory failure secondary to severe pulmonary hypertension. As the combination of CDH and omphalocele is rare and with the abdominal content herniating into the omphalocele instead of the thorax, antenatal diagnosis of such condition can be difficult. Unlike other reported cases in the literature, our patient's respiratory condition has been improving with time and is surviving beyond the infancy period. We believe this to be the first such survival case reported in the literature. © 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.

On mimicking diffuse reflectance spectra in the visible and near-infrared ranges for tissue-like phantom design

NASA Astrophysics Data System (ADS)

Debernardi, N.; Dunias, P.; van El, B.; Statham, A. E.

2014-03-01

A novel methodology is presented to mimic diffuse reflectance spectra of arbitrary biological tissues in the visible and near-infrared ranges. The prerequisite for this method is that the spectral information of basic components is sufficient to mimic an arbitrary tissue. Using a sterile disposable fiber optic probe the diffuse reflectance spectrum of a tissue (either in vivo or ex vivo) is measured, which forms the target spectrum. With the same type of fiber probe, a wide variety of basic components (ingredients) has been previously measured and all together forms a spectral database. A "recipe" for the optimal mixture of ingredients can then be derived using an algorithm that fits the absorption and scattering behavior of the target spectrum using the spectra of the basic components in the database. The spectral mimicking accuracy refines by adding more ingredients to the database. The validity of the principle is demonstrated by mimicking an arbitrary mixture of components. The method can be applied with different kinds of materials, e.g. gelatins, waxes and silicones, thus providing the possibility of mimicking the mechanical properties of target tissues as well. The algorithm can be extended from single point contact spectral measurement to contactless multi- and hyper-spectral camera acquisition. It can be applied to produce portable and durable tissue-like phantoms that provides consistent results over time for calibration, demonstration, comparison of instruments or other such tasks. They are also more readily available than living tissue or a cadaver and are not so limited by ease of handling and legislation; hence they are highly useful when developing new devices.

Neurophthalmological conditions mimicking glaucomatous optic neuropathy: analysis of the most common causes of misdiagnosis.

PubMed

Dias, Diego Torres; Ushida, Michele; Battistella, Roberto; Dorairaj, Syril; Prata, Tiago Santos

2017-01-10

To analyze the most common neurophthalmological conditions that may mimic glaucomatous optic neuropathy and to determine which most often lead to misdiagnosis when evaluated by a glaucoma specialist. We reviewed the charts of consecutive patients with optic neuropathies caused by neurophthalmological conditions screened in a single Eye Clinic within a period of 24 months. Within these enrolled patients, we selected the eyes whose fundoscopic appearance could resemble glaucoma based in pre-defined criteria (vertical cup-to-disc ratio ≥0.6, asymmetry of the cup-to-disc ratio ≥0.2 between eyes, presence of localized retinal nerve fiber layer and/or neuroretinal rim defects, and disc haemorrhages). Then, color fundus photographs and Humphrey Visual Field tests (HVF) of these eyes were mixed with tests from 21 consecutive glaucomatous patients (42 eyes with normal tension glaucoma). These images were mixed randomly and a masked glaucoma specialist was asked to distinguish if each set of exams was from a patient with glaucoma or with a neurophthalmologic condition. Among the 101 eyes (68 patients) enrolled with neurophthalmological diseases, 16 (15.8%) were classified as conditions that could mimic glaucoma. The most common diagnoses were ischemic optic neuropathy (25%), compressive optic neuropathy (18.7%) and hereditary optic neuropathy (18.7%). Based on the analysis of fundus photographs and HVF tests, 25% of these were misdiagnosed as glaucoma (two ischemic optic neuropathies and two congenital optic disc anomalies). Conversely, 11.9% of the glaucomatous neuropathies were misdiagnosed as neurophthalmological disorders. Overall, the glaucoma specialist correctly diagnosed 84.5% of the eyes. Some neurophthalmological disorders can mimic glaucoma. In our study, isquemic and compressive optic neuropathies were the ones that most often did so. Almost one quarter of the eyes were misdiagnosed when evaluated by a glaucoma specialist, which can lead to inadequate

Dermoscopic findings in a collision tumor composed of a dermatofibroma and a melanocytic nevus mimicking melanoma.

PubMed

Marcucci, Carolina; Sabban, Emilia Cohen; Friedman, Paula; Peralta, Rosario; Marull, Ricardo Sánchez; Cabo, Horacio

2015-10-01

Collision tumors consist of two different neoplasms occurring concurrently in the same lesion. This association has been described for both benign and malignant neoplasms that may be difficult to identify. Therefore, dermoscopy is a valuable tool to make a correct diagnosis. We report a very unusual collision tumor composed of both a dermatofibroma and a melanocytic nevus mimicking melanoma.

Paraspinal tuberculosis mimicking malignancy.

PubMed

Alherabi, Ameen Z; Marglani, Osama A; Gazzaz, Malak J; Abbas, Mohammed M

2013-12-01

Tuberculosis (TB) of the paraspinal muscles is a rare clinical entity. We present a case of an 18-year-old, Saudi male patient presenting with the clinical picture of a paraspinal mass that turned out to be paraspinal TB. It originated from the paraspinal tissues and muscles, and invaded the C6 and C7 vertebrae. Initially, it was highly suspicious for malignancy. A biopsy confirmed the diagnosis of TB, and the patient was treated successfully with anti-TB therapy. It is important to be aware that paraspinal TB can mimic malignancy.

Synchronic volvulus of splenic flexure and caecum: a very rare cause of large bowel obstruction

PubMed Central

Islam, Shariful; Hosein, Devin; Harnarayan, Patrick; Naraynsingh, Vijay

2016-01-01

Colonic volvulus involving the caecum and splenic flexure of the colon is an extremely rare surgical entity and, as a result, it is rarely entertained as a differential diagnosis for large bowel obstruction. The most common site of volvulus is located at the sigmoid colon (75%) followed by caecum (22%). Rare sites of colonic volvulus include the transverse colon (about 2%) and splenic flexure (1–2%). Synchronous double colonic volvulus is very rare. The presentation of this condition can be similar to the signs and symptoms of large bowel obstruction. CT imaging of the abdomen can be diagnostic; however, the diagnosis is often missed due to the rarity of this condition—in such cases, it can only be made at laparotomy. Management of this condition should be expedited to prevent a fatal outcome. We present the case of a 56-year-old woman with synchronous volvulus of the caecum and splenic flexure of the colon. PMID:26783008

Conception of an Expert Advisory Board for the European Reference Network for Rare Respiratory Diseases.

PubMed

Walther, Désirée; Steinmann, Olivia; Schaefer, Johanna; Wagner, Thomas O F; Storf, Holger

2018-01-01

Due to low prevalence of rare diseases and lack of expertise, patients suffering rare diseases are challenged with finding experts that are specialized and experienced in treating their conditions and get qualified answers. To address this issue, the approach of an interactive platform was made, which should allow affected patients or physicians the possibility to ask experts their specific questions to gather and improve their knowledge about their condition. This paper introduces the pan-European Internet platform EXABO, an Expert Advisory Board, which is developed within the framework of the European Reference Network for rare respiratory diseases (ERN-LUNG). The purpose of establishing this platform is initially dedicated to rare respiratory diseases in whole Europe, whilst the set-up is however, planned to be a generic tool for additional diseases or groups of diseases. This paper gives an overview of the concept and planning of the EXABO platform and shows how the platform is to be implemented.

Colitis cystica profunda of the rectum: An unexpected operative finding

PubMed Central

Ayantunde, Abraham A; Strauss, Claire; Sivakkolunthu, Malathi; Malhotra, Anu

2016-01-01

Colitis cystic profunda is a rare entity benign condition of the colon and rectum that can mimic suspicious polyps or malignancy. The commonest sites of affectation are the rectum and the sigmoid colon but it can be unusually widely distributed in the colon. The aetiology of this condition is not fully elucidated and confident diagnosis can only be made on histological features. We hereby describe a patient who presented with significant rectal symptoms and an unexpected finding of a submucosal mucous cyst mimicking a suspicious rectal polyp and highlighted its significance and the review of the literature. PMID:27458593

Colitis cystica profunda of the rectum: An unexpected operative finding.

PubMed

Ayantunde, Abraham A; Strauss, Claire; Sivakkolunthu, Malathi; Malhotra, Anu

2016-07-16

Colitis cystic profunda is a rare entity benign condition of the colon and rectum that can mimic suspicious polyps or malignancy. The commonest sites of affectation are the rectum and the sigmoid colon but it can be unusually widely distributed in the colon. The aetiology of this condition is not fully elucidated and confident diagnosis can only be made on histological features. We hereby describe a patient who presented with significant rectal symptoms and an unexpected finding of a submucosal mucous cyst mimicking a suspicious rectal polyp and highlighted its significance and the review of the literature.

Bilateral breast abscess: a rare complication of enteric fever.

PubMed

Singh, S; Pandya, Y; Rathod, J; Trivedi, S

2009-01-01

Breast abscess is usually caused by Staphylococcus aureus in pregnant or lactating females. Salmonella spp. is occasionally associated with abscess formation in various organs, but breast abscess is a very rare complication. In enteric fever dissemination to multiple organ systems following bacteraemia can lead to localized abscess. We report a case of bilateral breast abscess due to Salmonella Typhi in an unmarried 35-year-old female without any predisposing conditions. She presented with fever and painful swelling of both the breasts. S. typhi was isolated from both breasts. Such rare cause must be suspected in females without any evident predisposing factors for effective management.

Human stem cell based corneal tissue mimicking structures using laser-assisted 3D bioprinting and functional bioinks.

PubMed

Sorkio, Anni; Koch, Lothar; Koivusalo, Laura; Deiwick, Andrea; Miettinen, Susanna; Chichkov, Boris; Skottman, Heli

2018-07-01

There is a high demand for developing methods to produce more native-like 3D corneal structures. In the present study, we produced 3D cornea-mimicking tissues using human stem cells and laser-assisted bioprinting (LaBP). Human embryonic stem cell derived limbal epithelial stem cells (hESC-LESC) were used as a cell source for printing epithelium-mimicking structures, whereas human adipose tissue derived stem cells (hASCs) were used for constructing layered stroma-mimicking structures. The development and optimization of functional bioinks was a crucial step towards successful bioprinting of 3D corneal structures. Recombinant human laminin and human sourced collagen I served as the bases for the functional bioinks. We used two previously established LaBP setups based on laser induced forward transfer, with different laser wavelengths and appropriate absorption layers. We bioprinted three types of corneal structures: stratified corneal epithelium using hESC-LESCs, lamellar corneal stroma using alternating acellular layers of bioink and layers with hASCs, and finally structures with both a stromal and epithelial part. The printed constructs were evaluated for their microstructure, cell viability and proliferation, and key protein expression (Ki67, p63α, p40, CK3, CK15, collagen type I, VWF). The 3D printed stromal constructs were also implanted into porcine corneal organ cultures. Both cell types maintained good viability after printing. Laser-printed hESC-LESCs showed epithelial cell morphology, expression of Ki67 proliferation marker and co-expression of corneal progenitor markers p63α and p40. Importantly, the printed hESC-LESCs formed a stratified epithelium with apical expression of CK3 and basal expression of the progenitor markers. The structure of the 3D bioprinted stroma demonstrated that the hASCs had organized horizontally as in the native corneal stroma and showed positive labeling for collagen I. After 7 days in porcine organ cultures, the 3D bioprinted

Fatal methemoglobinemia complicating alkaptonuria (ochronosis): a rare presentation.

PubMed

Freeman, Amanda R; Wills, Stephen M

2018-06-01

A 61-year-old female died in hospital with multiple organ failure 4 weeks following presentation with acute kidney injury, hemolytic anemia and methemoglobinemia. At autopsy, brown to black discoloration of cartilages was observed. Histology revealed brown pigmentation of the hyaline cartilage, with focal full-thickness erosion of the articular hyaline cartilage, characteristic of alkaptonuria (ochronosis). Although alkaptonuria is rarely fatal, this case illustrates a rare acute fatal complication. Accumulation of circulating homgentisic acid secondary to acute derangement of renal function is believed to have overwhelmed the endogenous antioxidant processes, resulting in hemolysis and methemoglobinemia, which were refractory to treatment. Small numbers of cases have previously been reported in the literature in patients known to suffer with the disease, all of which were preceded by acute kidney injury. Whilst the clinical diagnosis of alkaptonuria may be challenging, the autopsy findings of this rare condition are striking and this case illustrates the utility of the autopsy, albeit retrospectively, in arriving at a diagnosis. To our knowledge this is the first reported case where previously undiagnosed alkaptonuria has presented with methemoglobinemia.

An unexpected metastasis of breast cancer mimicking wheal rush.

PubMed

Damaskos, C; Dimitroulis, D; Pergialiotis, V; Doula, C; Koulermou, G; Antoniou, E A; Frangoulis, M; Stergios, K; Kontzoglou, K

2016-01-01

Breast cancer is the most common cancer among women and ranks second in cancer deaths worldwide. Breast cancer can metastasize to the skin but rarely, cutaneous metastases may be the first indication of the cancer. Skin metastases of breast cancer are usually found on the chest and close to the point of the mastectomy. We present the rare clinical entity of a breast cancer which was first diagnosed due to the skin metastasis away from the breast tumor. This is a rare case because the skin lesions usually appear simultaneously or secondary. Also, while the existing metastasis; the only symptom was the wheal rash.

An unexpected metastasis of breast cancer mimicking wheal rush

PubMed Central

DAMASKOS, C.; DIMITROULIS, D.; PERGIALIOTIS, V.; DOULA, C.; KOULERMOU, G.; ANTONIOU, E.A.; FRANGOULIS, M.; STERGIOS, K.; KONTZOGLOU, K.

2016-01-01

Breast cancer is the most common cancer among women and ranks second in cancer deaths worldwide. Breast cancer can metastasize to the skin but rarely, cutaneous metastases may be the first indication of the cancer. Skin metastases of breast cancer are usually found on the chest and close to the point of the mastectomy. We present the rare clinical entity of a breast cancer which was first diagnosed due to the skin metastasis away from the breast tumor. This is a rare case because the skin lesions usually appear simultaneously or secondary. Also, while the existing metastasis; the only symptom was the wheal rash. PMID:27734799

Real-time measurements, rare events and photon economics

NASA Astrophysics Data System (ADS)

Jalali, B.; Solli, D. R.; Goda, K.; Tsia, K.; Ropers, C.

2010-07-01

Rogue events otherwise known as outliers and black swans are singular, rare, events that carry dramatic impact. They appear in seemingly unconnected systems in the form of oceanic rogue waves, stock market crashes, evolution, and communication systems. Attempts to understand the underlying dynamics of such complex systems that lead to spectacular and often cataclysmic outcomes have been frustrated by the scarcity of events, resulting in insufficient statistical data, and by the inability to perform experiments under controlled conditions. Extreme rare events also occur in ultrafast physical sciences where it is possible to collect large data sets, even for rare events, in a short time period. The knowledge gained from observing rare events in ultrafast systems may provide valuable insight into extreme value phenomena that occur over a much slower timescale and that have a closer connection with human experience. One solution is a real-time ultrafast instrument that is capable of capturing singular and randomly occurring non-repetitive events. The time stretch technology developed during the past 13 years is providing a powerful tool box for reaching this goal. This paper reviews this technology and discusses its use in capturing rogue events in electronic signals, spectroscopy, and imaging. We show an example in nonlinear optics where it was possible to capture rare and random solitons whose unusual statistical distribution resemble those observed in financial markets. The ability to observe the true spectrum of each event in real time has led to important insight in understanding the underlying process, which in turn has made it possible to control soliton generation leading to improvement in the coherence of supercontinuum light. We also show a new class of fast imagers which are being considered for early detection of cancer because of their potential ability to detect rare diseased cells (so called rogue cells) in a large population of healthy cells.

Co-existence of idiopathic cecal ulcer and incidental appendix carcinoid tumor

PubMed Central

İnce, Volkan; Barut, Bora; Karakaş, Serdar

2016-01-01

Idiopathic cecal ulcer or solitary cecal ulcer is a rare entity that can only be diagnosed by histopathological evaluation. Generally, it is diagnosed by histolopathological evaluation of biopsy specimens obtained by colonoscopy that is performed for lower gastrointestinal bleeding. It can also be diagnosed after surgical resection performed for acute abdomen or cecal mass mimicking malignancy. Cecal carcinoid tumor is a rare cause of this condition; however, coexistence of cecal ulcer and appendix carcinoid tumor has not been previously reported. In this case, we present a 73-year-old woman who clinically presented as acute appendicitis with cecal wall thickening, underwent right hemicolectomy and was subsequently diagnosed with cecal ulcer, serosal abscess and coexisting appendix carcinoid tumor. PMID:28149127

What, if anything, is specific about having a rare disorder? Patients’ judgements on being ill and being rare

PubMed Central

Huyard, Caroline

2009-01-01

Abstract Background  Growing efforts are made to improve the situation of persons with rare diseases, but the specific nature of these disorders remains unclear. Objectives  To establish (1) to what extent people with rare disorders think that their disease’s rarity causes particular difficulties, (2) to what extent these difficulties relate to other causes than rarity (i.e. other characteristics of the disease or other components of the illness experience), (3) to what extent the rarity of the disease may relate to components of patients’ experience other than those that are traditionally addressed (i.e. personal or daily life aspects). Methods  Semi‐structured interviews with 29 patients and 15 parents of children with one of six rare diseases (cystic fibrosis, fragile X syndrome, Wilson’s disease, mastocytosis, locked‐in syndrome and a sixth syndrome). The interviews were conducted in France. The analysis draws on French pragmatic sociology and focuses on the participants’ judgements of their experience. Findings  The participants considered as normal and acceptable a range of situations that are often viewed as specific to rare disorders and unfair. This rather positive evaluation was conditional on some specific moral criteria being met. The participants attributed the cause of their difficulties to the failure of health professionals to meet these criteria. In the participants’ experience, disease‐related associations play a key role and rarity seems to contribute to making them especially important. Conclusions  Patients’ experience would be considerably improved if health professionals more often fulfilled their moral expectations, especially regarding diagnosis disclosure and information. (250 words) PMID:19840131

Generic Substitution of Orphan Drugs for the Treatment of Rare Diseases: Exploring the Potential Challenges.

PubMed

Di Paolo, Antonello; Arrigoni, Elena

2018-03-01

Generic drugs are important components of measures introduced by healthcare regulatory authorities to reduce treatment costs. In most patients and conditions the switch from a branded drug to its generic counterpart is performed with no major complications. However, evidence from complex diseases suggests that generic substitution requires careful evaluation in some settings and that current bioequivalence criteria may not always be adequate for establishing the interchangeability of branded and generic products. Rare diseases, also called orphan diseases, are a group of heterogeneous diseases that share important characteristics: in addition to their scarcity, most are severe, chronic, highly debilitating, and often present in early childhood. Finding a treatment for a rare disease is challenging. Thanks to incentives that encourage research and development programs in rare diseases, several orphan drugs are currently available. The elevated cost of orphan drugs is a highly debated issue and a cause of limited access to treatment for many patients. As patent protection and the exclusivity period of several orphan drugs will expire soon, generic versions of orphan drugs should reach the market shortly, with great expectations about their impact on the economic burden of rare diseases. However, consistent with other complex diseases, generic substitution may require thoughtful considerations and may be even contraindicated in some rare conditions. This article provides an overview of rare disease characteristics, reviews reports of problematic generic substitution, and discusses why generic substitution of orphan drugs may be challenging and should be undertaken carefully in rare disease patients.

Decision for surgery in the management of a rare condition, childhood gallbladder polyps, and the role of ultrasonography.

PubMed

Bayram Kabaçam, Gülşah; Akbıyık, Fatih; Livanelioğlu, Ziya; Tiryaki, H Tuğrul; Karakuş, Esra; Kabaçam, Gökhan

2013-01-01

Gallbladder polyps are tumors or tumor-like protrusions of the gallbladder. They are rarely seen in the pediatric age. Most important issue about these mostly incidental lesions is the risk of malignant transformation. Size more than 10 mm is the classicalcutoff for determining this risk, but it is rarely valid in children. Ultrasonography is the method of choice for follow-up, but it rarely demonstrates change of size or malignant transformation. Hereby, we report 6 cases of childhood gallbladder polyps, none of which had a genetic risk factor. Follow-up was uneventful in 4 of them. Two patients had undergone surgery, but none of the lesions were neoplastic. In the follow-up, a single experienced radiologist should handle the patient, in order to prevent inter-observer variation. The cut-off size for deciding surgery should be 10 mm for those cases with genetic background creating malignancy risk (metachromatic leukodystrophy, pancreaticobiliary duct abnormalities, achondroplasia, Peutz-Jeghers syndrome) or with accompanying cholelithiasis, and 15 mm for those without any risk factors to prevent any unnecessary operations.

Acute esophageal necrosis and liver pathology, a rare combination

PubMed Central

Khan, Amir Maqbul; Hundal, Rangit; Ramaswamy, Vijaya; Korsten, Mark; Dhuper, Sunil

2004-01-01

Acute esophageal necrosis (AEN) or “black esophagus” is a clinical condition found at endoscopy. It is a rare entity the exact etiology of which remains unknown. We describe a case of ‘black esophagus’, first of its kind, in the setting of liver cirrhosis and hepatic encephalopathy. PMID:15285044

Mimicking phosphorylation of Ser-74 on human deoxycytidine kinase selectively increases catalytic activity for dC and dC analogues.

PubMed

McSorley, Theresa; Ort, Stephan; Hazra, Saugata; Lavie, Arnon; Konrad, Manfred

2008-03-05

Intracellular phosphorylation of dCK on Ser-74 results in increased nucleoside kinase activity. We mimicked this phosphorylation by a Ser-74-Glu mutation in bacterially produced dCK and investigated kinetic parameters using various nucleoside substrates. The S74E mutation increases the k(cat) values 11-fold for dC, and 3-fold for the anti-cancer analogues dFdC and AraC. In contrast, the rate is decreased for the purine substrates. In HEK293 cells, we found that by comparing transiently transfected dCK(S74E)-GFP and wild-type dCK-GFP, mimicking the phosphorylation of Ser-74 has no effect on cellular localisation. We note that phosphorylation may represent a mechanism to enhance the catalytic activity of the relatively slow dCK enzyme.

Mimicking phosphorylation of Ser-74 on human deoxycytidine kinase selectively increases catalytic activity for dC and dC analogues

PubMed Central

McSorley, Theresa; Ort, Stephan; Hazra, Saugata; Lavie, Arnon; Konrad, Manfred

2009-01-01

Intracellular phosphorylation of dCK on Ser-74 results in increased nucleoside kinase activity. We mimicked this phosphorylation by a Ser-74-Glu mutation in bacterially produced dCK and investigated kinetic parameters using various nucleoside substrates. The S74E mutation increases the kcat values 11-fold for dC, and 3-fold for the anti-cancer analogues dFdC and AraC. In contrast, the rate is decreased for the purine substrates. In HEK293 cells, we found that by comparing transiently transfected dCK(S74E)-GFP and wild-type dCK-GFP, mimicking the phosphorylation of Ser-74 has no effect on cellular localisation. We note that phosphorylation may represent a mechanism to enhance the catalytic activity of the relatively slow dCK enzyme. PMID:18258203

Laser-generated ultrasound for high-precision cutting of tissue-mimicking gels (Conference Presentation)

NASA Astrophysics Data System (ADS)

Lee, Taehwa; Luo, Wei; Li, Qiaochu; Guo, L. Jay

2017-03-01

Laser-generated focused ultrasound has shown great promise in precisely treating cells and tissues by producing controlled micro-cavitation within the acoustic focal volume (<100 um). However, the previous demonstration used cells and tissues cultured on glass substrates. The glass substrates were found to be critical to cavitation, because ultrasound amplitude doubles due to the reflection from the substrate, thus allowing for reaching pressure amplitude to cavitation threshold. In other words, without the sound reflecting substrate, pressure amplitude may not be strong enough to create cavitation, thus limiting its application to only cultured biomaterials on the rigid substrates. By using laser-generated focused ultrasound without relying on sound-reflecting substrates, we demonstrate free-field cavitation in water and its application to high-precision cutting of tissue-mimicking gels. In the absence of a rigid boundary, strong pressure for cavitation was enabled by recently optimized photoacoustic lens with increased focal gain (>30 MPa, negative pressure amplitude). By moving cavitation spots along pre-defined paths through a motorized stage, tissue-mimicking gels of different elastic moduli were cut into different shapes (rectangle, triangle, and circle), leaving behind the same shape of holes, whose sizes are less than 1 mm. The cut line width is estimated to be less than 50 um (corresponding to localized cavitation region), allowing for accurate cutting. This novel approach could open new possibility for in-vivo treatment of diseased tissues in a high-precision manner (i.e., high-precision invisible sonic scalpel).

Simulation of laser-tattoo pigment interaction in a tissue-mimicking phantom using Q-switched and long-pulsed lasers.

PubMed

Ahn, K J; Kim, B J; Cho, S B

2017-08-01

Laser therapy is the treatment of choice in tattoo removal. However, the precise mechanisms of laser-tattoo pigment interactions remain to be evaluated. We evaluated the geometric patterns of laser-tattoo pigment particle interactions using a tattoo pigment-embedded tissue-mimicking (TM) phantom. A Q-switched (QS) neodymium-doped yttrium aluminum garnet laser was used at settings of 532-, 660-, and 1064-nm wavelengths, single-pulse and quick pulse-to-pulse treatment modes, and spot sizes of 4 and 7 mm. Most of the laser-tattoo interactions in the experimental conditions formed cocoon-shaped or oval photothermal and photoacoustic injury zones, which contained fragmented tattoo particles in various sizes depending on the conditions. In addition, a long-pulsed 755-nm alexandrite laser was used at a spot size of 6 mm and pulse widths of 3, 5, and 10 ms. The finer granular pattern of tattoo destruction was observed in TM phantoms treated with 3- and 5-ms pulse durations compared to those treated with a 10-ms pulse. We outlined various patterns of laser-tattoo pigment interactions in a tattoo-embedded TM phantom to predict macroscopic tattoo and surrounding tissue reactions after laser treatment for tattoo removal. © 2016 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

Thermodynamic stability of Hoogsteen and Watson-Crick base pairs in the presence of histone H3-mimicking peptide.

PubMed

Pramanik, Smritimoy; Nakamura, Kaori; Usui, Kenji; Nakano, Shu-ichi; Saxena, Sarika; Matsui, Jun; Miyoshi, Daisuke; Sugimoto, Naoki

2011-03-14

We found that Hoogsteen base pairs were stabilized by molecular crowding and a histone H3-mimicking peptide, which was not observed for Watson-Crick base pairs. Our findings demonstrate that the type of DNA base pair is critical for the interaction between DNA and histones.

Rare Disorders and Diseases

ERIC Educational Resources Information Center

Umlauf, Mary; Monaco, Jana; FitzZaland, Mary; FitzZaland, Richard; Novitsky, Scott

2008-01-01

According to the National Organization for Rare Disorders (NORD), a rare or "orphan" disease affects fewer than 200,000 people in the United States. There are more than 6,000 rare disorders that, taken together, affect approximately 25 million Americans. "Exceptional Parent" ("EP") recognizes that when a disorder affects a child or adult, it…

Neurofibroma involving obturator nerve mimicking an adnexal mass: a rare case report and PRISMA-driven systematic review.

PubMed

Chao, Wei-Ting; Liu, Chia-Hao; Chen, Yi-Jen; Wu, Hua-Hsi; Chuang, Chi-Mu; Wang, Peng-Hui

2018-02-09

Pelvic masses are a common gynecologic problem, and majority of them are diagnosed as ovarian tumors finally. Sometimes, it is hard to distinguish the origin of these pelvic masses. The following case is a solitary neurofibroma arising from the right-side obturator nerve, which was impressed as a right-side ovarian tumor initially. We reported this case, and also performed a PRISMA-driven systematic review to summary the similar cases in the literature. This review includes image, molecular and pathological findings and outcome of neurofibroma. A 33-year-old woman with a regular menstrual period denied any symptoms or signs. During her physical check-up, image examination revealed a right-side heterogeneous pelvic mass; it was suggestive of a complex of right-side ovarian tumor. A provisional diagnosis of retroperitoneal pelvic mass, probably a benign ovarian tumor, was made. Excision of the right-side pelvic mass was performed. We sent the specimens for frozen pathology, which indicated neurofibroma and lipomatous tumor and that the possibility of liposarcoma cannot be excluded. A segment of the obturator nerve was attached to the tumor and was severed. A right-side obturator nerve tear during tumor excision was observed, and a neurosurgeon was consulted for obturator nerve grafting and repair. The patient complained of mild weakness and paresthesia affecting the right leg, and we consulted a rehabilitation doctor for neuron injury. The patient's recovery was uneventful, and she was discharged eight days after the drain was removed. Further rehabilitation treatment was arranged. A neurofibroma is an uncommon pelvic retroperitoneal tumor, and it can be misdiagnosed as an adnexal mass. To our knowledge, this is a rare case of a solitary neurofibroma arising from the obturator nerve. It usually does not have any neurological deficit. We present this case to demonstrate that pelvic neurofibroma can be mistaken for an adnexal mass. This fact should be borne in mind

Seronegative rheumatoid arthritis: a rare cause of effusive-constrictive pericarditis requiring pericardiectomy.

PubMed

Soo, Alan; Graham, Alastair

2012-04-01

Effusive-constrictive pericarditis is a rare condition. In this report, we describe a case of effusive-constrictive pericarditis caused by seronegative rheumatoid arthritis which was successfully treated with surgical pericardiectomy.

Budgetary Impact of Medicinal Therapies for Rare Diseases in Bulgaria.

PubMed

Iskrov, Georgi G; Jakovljevic, Mihajlo Michael; Stefanov, Rumen S

2018-03-01

Rare diseases have been continually outlined as one of the causes for the National Health Insurance Fund's (NHIF) deficit spending in Bulgaria. To estimate the budgetary impact of rare disease medicinal therapies from NHIF perspective for 2014 and 2016. Budgetary impact of rare diseases is calculated as a percentage of NHIF total pharmaceutical spending. Total expenditure per ICD-10 code, mean annual number of patients reimbursed and mean annual cost per patient are analysed. Budgetary impact of rare diseases reached a plateau of about 9% of NHIF total pharmaceutical spending for 2014-2016. Mean number of patients reimbursed and mean annual cost per patient increased by median rates of 4.27% and 2.54%, respectively. Glycogen storage disease, neuropathic heredofamilial amyloidosis and C1 esterase inhibitor deficiency stood out, as they had the second, fourth and fifth most expensive medicinal treatment cost. While accounting for only 92 patients in 2016, these three conditions contributed for 22.89% of NHIF total expenditure on rare disease medicinal therapies. For comparison, coagulation defects, with the biggest total cost per indication, had a similar budgetary impact - 24.88%, but for 277 patients reimbursed. Our study does not support the concerns about uncontrolled growth of expenditures for rare disease medicinal therapies. Nevertheless, there is a need for enhanced post-marketing surveillance and performance-based payment of these treatments. Development, collection and analysis of local real-world data have been increasingly applied as a tool to advance these health policy goals.

Florid cemento-osseous dysplasia mimicking apical periodontitis: A case report.

PubMed

Rekabi, Ali Reza; Ashouri, Rezvan; Torabi, Molok; Parirokh, Masoud; Abbott, Paul V

2013-12-01

Cemento-osseous dysplasia may present as a focal, periapical or florid lesion in the mandible or maxilla. The lesion may sometimes appear similar to peri-radicular lesions on a periapical radiograph. This report presents a case with irreversible pulpitis and root resorption as well as a mixed radiolucent/radiopaque lesion around a mandibular molar tooth root. Root canal treatment was performed and because of the radiographic signs of root resorption and the patient's fear of having a malignant disease, periapical surgery was also performed. The histopathology report confirmed the presence of florid cement-osseous dysplasia which was mimicking apical periodontitis. Follow-up radiography 12 months after the surgery illustrated complete healing of the radiolucent area. © 2011 The Authors. Australian Endodontic Journal © 2011 Australian Society of Endodontology.

[A rarely known headache: Airplane travel headache].

PubMed

Azman, Filiz; Erkılınç, Büşra; Çabalar, Murat; Çağırıcı, Sultan; Yayla, Vildan

2017-01-01

Recently, headache associated with airplane travel has gained importance with case reports and took its place in the classification of headache in 2013. This rare condition has different spesific characteristic from the primary headaches and its pathophysiology is not clear yet. In this case report, a 27-years-old female patient was diagnosed with the headache associated with airplane travel by history, examination and imaging findings. The possible pathophysiology and treatment were discussed.

Pediatric schwannomatosis, a rare but distinct form of neurofibromatosis.

PubMed

Thomas, Anna K; Egelhoff, John C; Curran, John G; Thomas, Bobby

2016-03-01

Schwannomatosis is the third major form of neurofibromatosis, distinct from neurofibromatosis type 2 (NF2) and type 1 (NF1). This condition is rare with a variable phenotypic presentation and complex molecular and genetic findings. In this case, a previously healthy teenager was found to have multiple spinal lesions and an enhancing right parotid mass on MRI. On extensive further work-up, this patient met the existing clinical criteria for schwannomatosis. This case report aims to review the clinical features and current diagnostic criteria for schwannomatosis and compare it to NF1 and NF2. Special emphasis will be placed on imaging features that should prompt the radiologist to suggest this rare diagnosis.

Absolute backscatter coefficient estimates of tissue-mimicking phantoms in the 5–50 MHz frequency range

PubMed Central

McCormick, Matthew M.; Madsen, Ernest L.; Deaner, Meagan E.; Varghese, Tomy

2011-01-01

Absolute backscatter coefficients in tissue-mimicking phantoms were experimentally determined in the 5–50 MHz frequency range using a broadband technique. A focused broadband transducer from a commercial research system, the VisualSonics Vevo 770, was used with two tissue-mimicking phantoms. The phantoms differed regarding the thin layers covering their surfaces to prevent desiccation and regarding glass bead concentrations and diameter distributions. Ultrasound scanning of these phantoms was performed through the thin layer. To avoid signal saturation, the power spectra obtained from the backscattered radio frequency signals were calibrated by using the signal from a liquid planar reflector, a water-brominated hydrocarbon interface with acoustic impedance close to that of water. Experimental values of absolute backscatter coefficients were compared with those predicted by the Faran scattering model over the frequency range 5–50 MHz. The mean percent difference and standard deviation was 54% ± 45% for the phantom with a mean glass bead diameter of 5.40 μm and was 47% ± 28% for the phantom with 5.16 μm mean diameter beads. PMID:21877789

Phased laser diode array permits selective excitation of ultrasonic guided waves in coated bone-mimicking tubes

NASA Astrophysics Data System (ADS)

Moilanen, Petro; Salmi, Ari; Kilappa, Vantte; Zhao, Zuomin; Timonen, Jussi; Hæggström, Edward

2017-10-01

This paper validates simulation predictions, which state that specific modes could be enhanced in quantitative ultrasonic bone testing. Tunable selection of ultrasonic guided wave excitation is useful in non-destructive testing since it permits the mediation of energy into diagnostically useful modes while reducing the energy mediated into disturbing contributions. For instance, it is often challenging to distinguish and extract the useful modes from ultrasound signals measured in bone covered by a soft tissue. We show that a laser diode array can selectively excite ultrasound in bone mimicking phantoms. A fiber-coupled diode array (4 elements) illuminated two solid tubes (2-3 mm wall thickness) embraced by an opaque soft-tissue mimicking elastomer coating (5 mm thick). A predetermined time delay matching the selected mode and frequency was employed between the outputs of the elements. The generated ultrasound was detected by a 215 kHz piezo receiver. Our results suggest that this array reduces the disturbances caused by the elastomer cover and so pave way to permit non-contacting in vivo guided wave ultrasound assessment of human bones. The implementation is small, inexpensive, and robust in comparison with the conventional pulsed lasers.

Estimating Effects with Rare Outcomes and High Dimensional Covariates: Knowledge is Power

PubMed Central

Ahern, Jennifer; Galea, Sandro; van der Laan, Mark

2016-01-01

Many of the secondary outcomes in observational studies and randomized trials are rare. Methods for estimating causal effects and associations with rare outcomes, however, are limited, and this represents a missed opportunity for investigation. In this article, we construct a new targeted minimum loss-based estimator (TMLE) for the effect or association of an exposure on a rare outcome. We focus on the causal risk difference and statistical models incorporating bounds on the conditional mean of the outcome, given the exposure and measured confounders. By construction, the proposed estimator constrains the predicted outcomes to respect this model knowledge. Theoretically, this bounding provides stability and power to estimate the exposure effect. In finite sample simulations, the proposed estimator performed as well, if not better, than alternative estimators, including a propensity score matching estimator, inverse probability of treatment weighted (IPTW) estimator, augmented-IPTW and the standard TMLE algorithm. The new estimator yielded consistent estimates if either the conditional mean outcome or the propensity score was consistently estimated. As a substitution estimator, TMLE guaranteed the point estimates were within the parameter range. We applied the estimator to investigate the association between permissive neighborhood drunkenness norms and alcohol use disorder. Our results highlight the potential for double robust, semiparametric efficient estimation with rare events and high dimensional covariates. PMID:28529839

Moderately nonlinear ultrasound propagation in blood-mimicking fluid.

PubMed

Kharin, Nikolay A; Vince, D Geoffrey

2004-04-01

In medical diagnostic ultrasound (US), higher than-in-water nonlinearity of body fluids and tissue usually does not produce strong nonlinearly distorted waves because of the high absorption. The relative influence of absorption and nonlinearity can be characterized by the Gol'dberg number Gamma. There are two limiting cases in nonlinear acoustics: weak waves (Gamma < 1) or strong waves (Gamma > 1). However, at diagnostic frequencies in tissue and body fluids, the nonlinear effects and effects of absorption more likely are comparable (Gol'dberg number Gamma approximately 1). The aim of this work was to study the nonlinear propagation of a moderately nonlinear US second harmonic signal in a blood-mimicking fluid. Quasilinear solutions to the KZK equation are presented, assuming radiation from a flat and geometrically focused circular Gaussian source. The solutions are expressed in a new simplified closed form and are in very good agreement with those of previous studies measuring and modeling Gaussian beams. The solutions also show good agreement with the measurements of the beams produced by commercially available transducers, even without special Gaussian shading.

Retroperitoneal Pseudoaneurysm Mimicking Ureteral Calculus: Pitfalls in Diagnosis

PubMed Central

Kalabin, Aleksandr; Dinesh, Anant; Landa, Marina; Davis-Joseph, Brian

2017-01-01

Arterial aneurysms (AA) can be classified as true aneurysms, characterized by the persistence of all three layers of the arterial wall with progressive dilation and wall thinning; arterial pseudoaneurysms (APAs) are characterized by a tear in the vessel wall and a periarterial hematoma formation. They could occur due to a visceral, retroperitoneal, or peripheral origin. Most AA/APA are usually found incidentally, and it is imperative to be vigilant in order to diagnose and manage them due to their potentially life-threatening complications. We present a case of a 35-year-old woman presenting with right-sided abdominal pain mimicking renal colic with an initial misdiagnosis of ureteral calculus. Post-cystoscopy, a misdiagnosis was confirmed, and subsequently, the patient had a right retroperitoneal mass excision. The histopathology report concluded the calcified retroperitoneal mass to be pseudoaneurysm. Such pitfalls in diagnosis are essential to be shared with the larger medical community for increased vigilance and optimal management of pseudoaneurysms. PMID:29226048

Differential diagnosis and treatment of periodontitis-mimicking actinomycosis.

PubMed

Kim, Nam Ryang; Park, Jun-Beom; Ko, Youngkyung

2012-12-01

Actinomycosis is an uncommon chronic granulomatous disease that presents as a slowly progressive, indolent, indurated infiltration with multiple abscesses, fistulas, and sinuses. The purpose of this article is to report on a case of actinomycosis with clinical findings similar to periodontitis. A 46-year-old female presented with recurrent throbbing pain on the right first and second molar of the mandible three weeks after root planing. Exploratory flap surgery was performed, and the bluish-gray tissue fragment found in the interproximal area between the two molars was sent for histopathology. The diagnosis from the biopsy was actinomycosis. The clinical and radiographic manifestations of this case were clinically indistinguishable from periodontitis. The patient did not report any symptoms, and she is scheduled for a follow-up visit. The present study has identified periodontitis-mimicking actinomycosis. Actinomycosis should be included in the differential diagnosis in cases with periodontal pain and inflammation that do not respond to nonsurgical treatment for periodontitis. More routine submissions of tissue removed from the oral cavity for biopsies may be beneficial for differential diagnosis.

The cytopathology of Actinomyces, Nocardia, and their mimickers.

PubMed

McHugh, Kelsey E; Sturgis, Charles D; Procop, Gary W; Rhoads, Daniel D

2017-12-01

Nocardia species and Actinomyces species are 2 of the most commonly diagnosed filamentous bacteria in routine cytopathology practice. These genera share many overlapping cytomorphologic features, including their thin, beaded, branching, Gram-positive, GMS-positive filamentous structures that fragment at their peripheries into bacillary- and coccoid-appearing forms. Features that help distinguish between these 2 microorganisms include the width of their filamentous structures, the angles at which they branch, and their ability or lack thereof to retain a modified acid-fast stain. In addition to cytomorphologic overlap, overlap in clinical presentation is frequent with pulmonary and mucocutaneous presentations seen in both. Differentiating between Nocardia and Actinomyces is essential because patients with these infections require different approaches to medical management. Both antibiotic susceptibilities and the need for early surgical intervention as part of the treatment plan vary greatly among these 2 groups. This review focuses on the clinical presentation, cytomorphology and staining characteristics that can be useful in identifying and distinguishing between Nocardia and Actinomyces infections, as well as their mimickers. © 2017 Wiley Periodicals, Inc.

A review of the wasp mimicking spider genus Coenoptychus Simon, 1885 (Araneae: Corinnidae: Castianeirinae).

PubMed

Paul, Jimmy; Sankaran, Pradeep M; Sebastian, Pothalil A; Joseph, Mathew M

2018-04-20

The monotypic velvet ant-mimicking spider genus Coenoptychus Simon, 1885 is revised. The paper provides the first detailed morphological and genitalic description, with the first description and illustrations of the male of the type species, Coenoptychus pulcher Simon, 1885, and a redescription of its female. Two new combinations are proposed: Coenoptychus mutillicus (Haddad, 2004) comb. nov. and Coenoptychus tropicalis (Haddad, 2004) comb. nov.; both species were previously included in Graptartia Simon, 1896. The distribution records of the genus are updated.

Ankyloglossia with cleft lip: A rare case report

PubMed Central

Jangid, Kritika; Alexander, Aurelian Jovita; Jayakumar, Nadathur Doraiswamy; Varghese, Sheeja; Ramani, Pratibha

2015-01-01

Ankyloglossia or tongue-tie is a congenital anomaly affecting the tongue, which is characterized by thick, short lingual frenulum. This condition causes many difficulties such as limited tongue protrusion, breastfeeding difficulties, speech impairment and lack of self-confidence. It is very rarely associated with any other congenital craniofacial disorders such as cleft lip, X-linked cleft palate, Van der Woude syndrome, Smith-Lemli-Opitz syndrome, Orofacial digital syndrome, Beckwith Weidman syndrome or Simpson-Golabi-Behmel syndrome. This article presents a rare case of ankyloglossia associated with cleft lip treated with diode laser in a 12-year-old Indian boy who had undergone surgical correction of associated cleft lip soon after birth. Correction of ankyloglossia at a young age would lead to enhanced phonetics, improved oral hygiene, and overall personality development. PMID:26941523

THE LINK BETWEEN RARE-EARTH PEAK FORMATION AND THE ASTROPHYSICAL SITE OF THE R PROCESS

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

Mumpower, Matthew R.; McLaughlin, Gail C.; Surman, Rebecca

The primary astrophysical source of the rare-earth elements is the rapid neutron capture process ( r process). The rare-earth peak that is seen in the solar r -process residuals has been proposed to originate as a pile-up of nuclei during the end of the r process. We introduce a new method utilizing Monte Carlo studies of nuclear masses in the rare-earth region, that includes self-consistently adjusting β -decay rates and neutron capture rates, to find the mass surfaces necessary for the formation of the rare-earth peak. We demonstrate our method with two types of astrophysical scenario, one corresponding to conditionsmore » typical of hot winds from core-collapse supernovae and stellar-mass accretion disks, and one corresponding to conditions typical of the ejection of the material from the tidal tails of neutron star mergers. In each type of astrophysical condition, this method successfully locates a region of enhanced stability in the mass surface that is responsible for the rare-earth peak. For each scenario, we find that the change in the mass surface has qualitatively different features, thus future measurements can shed light on the type of environment in which the r process occurred.« less

Bilateral giant macular holes: A rare manifestation of Alport syndrome.

PubMed

Raimundo, Miguel; Fonseca, Cristina; Silva, Rufino; Figueira, João

2018-05-01

Alport syndrome is a rare condition characterized by the clinical triad of nephritic syndrome, sensorineural deafness, and ophthalmological alterations. Herein, we present a rare case of a patient diagnosed with Alport syndrome and bilateral giant macular holes. A 40-year-old woman with a previously unreported mutation in the COL4A4 gene suggestive of autosomal-recessive Alport syndrome presented at our department. The patient exhibited bilateral full-thickness macular holes measuring >1500 µm at their smallest diameters. The very large dimensions of both macular holes were indicative of a bad prognosis regarding hole closure, and a conservative approach was adopted. The patient was maintained on renal substitution therapy, and genetic counseling was offered to other family members. Ophthalmological findings associated to Alport syndrome commonly include anterior lenticonus and dot-and-fleck retinopathy, although giant macular holes can also be associated with this condition. A multidisciplinary approach is crucial in the management of these patients, as Alport syndrome is an inherited systemic basement membrane disease.

The role of functionally defective rare germline variants of sialic acid acetylesterase in autoimmune Addison's disease

PubMed Central

Gan, Earn H; MacArthur, Katie; Mitchell, Anna L; Pearce, Simon H S

2012-01-01

Background Autoimmune Addison's disease (AAD) is a rare condition with a complex genetic basis. A panel of rare and functionally defective genetic variants in the sialic acid acetylesterase (SIAE) gene has recently been implicated in several common autoimmune conditions. We performed a case–control study to determine whether these rare variants are associated with a rarer condition, AAD. Method We analysed nine SIAE gene variants (W48X, M89V, C196F, C226G, R230W, T312M, Y349C, F404S and R479C) in a United Kingdom cohort of 378 AAD subjects and 387 healthy controls. All samples were genotyped using Sequenom iPlex chemistry to characterise primer extension products. Results A heterozygous rare allele at codon 312 (312*M) was found in one AAD patient (0.13%) but was not detected in the healthy controls. The commoner, functionally recessive variant at codon 89 (89*V) was found to be homozygous in two AAD patients but was only found in the heterozygous state in controls. Taking into account all nine alleles examined, 4/378 (1.06%) AAD patients and 1/387 (0.25%) healthy controls carried the defective SIAE alleles, with a calculated odds ratio of 4.13 (95% CI 0.44–97.45, two-tailed P value 0.212, NS). Conclusion We demonstrated the presence of 89*V homozygotes and the 312*M rare allele in the AAD cohort, but overall, our analysis does not support a role for rare variants in SIAE in the pathogenesis of AAD. However, the relatively small collection of AAD patients limits the power to exclude a small effect. PMID:23011869

Spinal cord herniation following cervical meningioma excision: a rare clinical entity and review of literature.

PubMed

Aiyer, Siddharth N; Shetty, Ajoy Prasad; Kanna, Rishi; Maheswaran, Anupama; Rajasekaran, S

2016-05-01

Spinal cord herniation following surgery is an extremely uncommon clinical condition with very few reports in published literature. This condition usually occurs as a spontaneous idiopathic phenomenon often in the thoracic spine or following a scenario of post traumatic spinal cord/nerve root injury. Rarely has it been reported following spinal cord tumor surgery. To document a case of cervical spinal cord herniation as a late onset complication following spinal cord tumor surgery with an atypical presentation of monoparesis. Case report. We describe the clinical presentation, operative procedure, post operative outcome and review of literature of this rare clinical condition. A 57-year-old man presented with right upper limb monoparesis due to a spinal cord herniation 6 years after a cervical intradural meningioma excision. The patients underwent surgery to reduce the herniation and duroplasty with subsequent complete resolution of symptoms. Spinal cord herniation must be considered as differential diagnosis in scenarios of spinal cord tumor excision presenting with late onset neurological deficit. These cases may present as paraparesis, Brown-sequard syndrome and rarely as in our case as monoparesis.

Invasive Pulmonary Aspergillosis-mimicking Tuberculosis.

PubMed

Kim, Sung-Han; Kim, Mi Young; Hong, Sun In; Jung, Jiwon; Lee, Hyun Joo; Yun, Sung-Cheol; Lee, Sang-Oh; Choi, Sang-Ho; Kim, Yang Soo; Woo, Jun Hee

2015-07-01

Pulmonary tuberculosis is occasionally confused with invasive pulmonary aspergillosis (IPA) in transplant recipients, since clinical suspicion and early diagnosis of pulmonary tuberculosis and IPA rely heavily on imaging modes such as computed tomography (CT). We therefore investigated IPA-mimicking tuberculosis in transplant recipients. All adult transplant recipients who developed tuberculosis or IPA at a tertiary hospital in an intermediate tuberculosis-burden country during a 6-year period were enrolled. First, we tested whether experienced radiologists could differentiate pulmonary tuberculosis from IPA. Second, we determined which radiologic findings could help us differentiate them. During the study period, 28 transplant recipients developed pulmonary tuberculosis after transplantation, and 80 patients developed IPA after transplantation. Two experienced radiologists scored blindly 28 tuberculosis and 50 randomly selected IPA cases. The sensitivities of radiologists A and B for IPA were 78% and 68%, respectively (poor agreement, kappa value = 0.25). The sensitivities of radiologists A and B for tuberculosis were 64% and 61%, respectively (excellent agreement, kappa value = 0.77). We then compared the CT findings of the 28 patients with tuberculosis and 80 patients with IPA. Infarct-shaped consolidations and smooth bronchial wall thickening were more frequent in IPA, and mass-shaped consolidations and centrilobular nodules (<10 mm, clustered) were more frequent in tuberculosis. Certain CT findings appear to be helpful in differentiating between IPA and tuberculosis. Nevertheless, the CT findings of about one-third of pulmonary tuberculosis cases in transplant recipients are very close to those of IPA. © The Author 2015. Published by Oxford University Press on behalf of the Infectious Diseases Society of America. All rights reserved. For Permissions, please e-mail: journals.permissions@oup.com.

Integrated multidisciplinary care for the management of chronic conditions in adults: an overview of reviews and an example of using indirect evidence to inform clinical practice recommendations in the field of rare diseases.

PubMed

Yeung, C H T; Santesso, N; Zeraatkar, D; Wang, A; Pai, M; Sholzberg, M; Schünemann, H J; Iorio, A

2016-07-01

Integrated care models have been adopted for individuals with chronic conditions and for persons with rare diseases, such as haemophilia. To summarize the evidence from reviews for the effects of integrated multidisciplinary care for chronic conditions in adults and to provide an example of using this evidence to make recommendations for haemophilia care. We searched MEDLINE, EMBASE, CINAHL and Cochrane Database of Systematic Reviews up to January 2016, and reviewed reference lists of retrieved papers. Systematic reviews of at least one randomized study, on adults with non-communicable chronic conditions. Two investigators independently assessed eligibility and extracted data. Quality of reviews was assessed using ROBIS, and the evidence assessed using GRADE. We included seven reviews reporting on three chronic conditions. We found low to high quality evidence. Integrated care results in a reduction in mortality; likely a reduction in emergency visits and an improvement in function; little to no difference in quality of life, but shorter hospital stays; and may result in little to no difference in missed days of school or work. No studies reported educational attainment, or patient adherence and knowledge. When used for haemophilia, judgment about the indirectness of the evidence was driven by disease, intervention or outcome characteristics. This overview provides the most up to date evidence on integrated multidisciplinary care for chronic conditions in adults, and an example of how it can be used for guidelines in rare diseases. © 2016 John Wiley & Sons Ltd.

Common Childhood Orthopedic Conditions

MedlinePlus

... might be linked to other conditions, such as cerebral palsy, muscle weakness disorders, autism, or other nervous system ... be related to existing medical problems such as cerebral palsy. Doctors rarely have to treat pigeon-toed feet. ...

Current Progress of Virus-mimicking Nanocarriers for Drug Delivery

PubMed Central

Somiya, Masaharu; Liu, Qiushi; Kuroda, Shun'ichi

2017-01-01

Nanomedicines often involve the use of nanocarriers as a delivery system for drugs or genes for maximizing the therapeutic effect and/or minimizing the adverse effect. From drug administration to therapeutic activity, nanocarriers must evade the host's immune system, specifically and efficiently target and enter the cell, and release their payload into the cell cytoplasm by endosomal escape. These processes constitute the early infection stage of viruses. Viruses are a powerful natural nanomaterial for the efficient delivery of genetic information by sophisticated mechanisms. Over the past two decades, many virus-inspired nanocarriers have been generated to permit successful drug and gene delivery. In this review, we summarize the early infection machineries of viruses, of which the part has so far been utilized for delivery systems. Furthermore, we describe basics and applications of the bio-nanocapsule, which is a hepatitis B virus-mimicking nanoparticle harboring nearly all activities involved in the early infection machineries (i.e., stealth activity, targeting activity, cell entry activity, endosomal escaping activity). PMID:29188175

The burden of rare cancers in Italy: the surveillance of rare cancers in Italy (RITA) project.

PubMed

Trama, Annalisa; Mallone, Sandra; Ferretti, Stefano; Meduri, Francesca; Capocaccia, Riccardo; Gatta, Gemma

2012-01-01

The project Surveillance of rare cancers in Italy (RITA) provides, for the first time, estimates of the burden of rare cancers in Italy based on the list of rare cancers proposed in collaboration with the European project Surveillance of Rare Cancers in Europe (RARECARE). RITA analyzed data from Italian population-based cancer registries (CR). The period of diagnosis was 1988 to 2002, and vital status information was available up to December 31, 2003. Incidence rates were estimated for the period 1995-2002, survival for the years 2000-2002 (with the period method of Brenner), and complete prevalence at January 1, 2003. Rare cancers are those with an incidence <6/100,000/year. In Italy, every year there are 60,000 new diagnoses of rare cancers corresponding to 15% of all new cancer diagnoses. Five-year relative survival was on the average worse for rare cancers (53%) than for common cancers (73%). A total of 770,000 patients were living in Italy in 2008 with a diagnosis of a rare cancer, 22% of the total cancer prevalence. Our estimates constitute a useful base for further research and support the idea that rare cancers are a public health problem that deserves attention. Centers of expertise for rare cancers that pool cases, expertise and resources could ensure an adequate clinical management for these diseases. Our data also showed that cancer registries are suitable sources of data to estimate incidence, prevalence and survival for rare cancers and should continue to monitoring rare cancers in Italy.

Multimodal 3D cancer-mimicking optical phantom

PubMed Central

Smith, Gennifer T.; Lurie, Kristen L.; Zlatev, Dimitar V.; Liao, Joseph C.; Ellerbee Bowden, Audrey K.

2016-01-01

Three-dimensional (3D) organ-mimicking phantoms provide realistic imaging environments for testing various aspects of optical systems, including for evaluating new probe designs, characterizing the diagnostic potential of new technologies, and assessing novel image processing algorithms prior to validation in real tissue. We introduce and characterize the use of a new material, Dragon Skin (Smooth-On Inc.), and fabrication technique, air-brushing, for fabrication of a 3D phantom that mimics the appearance of a real organ under multiple imaging modalities. We demonstrate the utility of the material and technique by fabricating the first 3D, hollow bladder phantom with realistic normal and multi-stage pathology features suitable for endoscopic detection using the gold standard imaging technique, white light cystoscopy (WLC), as well as the complementary imaging modalities of optical coherence tomography and blue light cystoscopy, which are aimed at improving the sensitivity and specificity of WLC to bladder cancer detection. The flexibility of the material and technique used for phantom construction allowed for the representation of a wide range of diseased tissue states, ranging from inflammation (benign) to high-grade cancerous lesions. Such phantoms can serve as important tools for trainee education and evaluation of new endoscopic instrumentation. PMID:26977369

Recycling of rare earth metals from rare earth-transition metal alloy scrap by liquid metal extraction

DOEpatents

Ellis, Timothy W.; Schmidt, Frederick A.

1995-08-01

Method of treating rare earth metal-bearing scrap, waste or other material (e.g. Nd--Fe--B or Dy--Tb--Fe scrap) to recover the rare earth metal comprising melting the rare earth metal-bearing material, melting a Group IIA metal extractant, such as Mg, Ca, or Ba, in which the rare earth is soluble in the molten state, and contacting the melted material and melted extractant at a temperature and for a time effective to extract the rare earth from the melted material into the melted extractant. The rare earth metal is separated from the extractant metal by vacuum sublimation or distillation.

Echocardiographic diagnosis of rare pathological patterns of sinus of Valsalva aneurysm

PubMed Central

Wang, Xinfang; Lü, Qing; He, Lin; Wang, Jing; Wang, Bin; Li, Ling; Yuan, Li; Liu, Jinfeng; Ge, Shuping; Xie, Mingxing

2017-01-01

Objective To evaluate the value and improve the diagnostic accuracy of echocardiography in the diagnosis of a sinus of Valsalva aneurysm (SVA) with rare pathological patterns. Methods Echocardiographic features and surgical findings from 270 Chinese patients with SVA treated in the last 18 years (1995–2013) at the Union Hospital were compared retrospectively; 22 of 270 cases had rare patterns. Results The patients with SVA, a rare origin, a rare extending position, or a rare course accounted for 3.4%, 7.4%, and 0.4% of the 270 cases, respectively. The three most common aneurysmal complications of the patients with rare patterns were severe aortic regurgitation (16), obstruction of the ventricular outflow tract or valvular orifice (3), and conduction disturbance (3). The origin, course, extending position and rupture status of the SVAs determined by echocardiography were entirely consistent with surgical findings in 81.8% of the 22 cases. With the exception of one failed diagnosis of an aneurysmal wall dissection and one misdiagnosis of a descending aortic dissection, the echocardiographic results of SVA complications and associated cardiovascular lesions were also confirmed. Conclusion We could accurately diagnose SVAs with rare pathological patterns by echocardiographic identification of distinguishing features. However, for several conditions, we could not accurately identify the origin or course of the aneurysm or define its relationship to adjacent structures using conventional echocardiography alone. Therefore, we recommend combining conventional echocardiography with different imaging techniques, such as transesophageal echocardiography, three-dimensional echocardiography, computed tomography angiography, and aortic angiography. PMID:28291779

Fungi associated with drug recalls and rare disease outbreaks.

PubMed

Ahearn, Donald G; Doyle Stulting, R

2014-11-01

Fungi rarely cause disease outbreaks associated with use of microbe-contaminated drugs. These rare episodes typically involve a restricted spectrum of common environmental species with relatively low virulence, rather than classical pathogens. Review of data involving over-the-counter contact lens solutions and prescription drug-related recalls revealed six episodes during the past decade with significant adverse health and financial impact (including loss of vision and death). Contaminations involved fungi mostly identified with the genera Aspergillus, Exserohilum, Fusarium, Paecilomyces, and Rhizopus. These organisms are noted for their capacity to produce resistant morphotypes (chlamydoconidia, ascospores) under various adverse conditions, generally with temperature survival/tolerances markedly in excess of maximal growth temperatures. High constituent levels of melanin, trehalose and heat-shock proteins facilitate differential survival of morphotypes following exposures to toxic chemicals and temperatures above 80 °C. Adverse environmental factors that induce resistant morphotypes are suggested to occur more readily in situ than during in vitro testing. Rare unexplained, sporadic drug contamination episodes with select thermotolerant fungi may relate, in part, to resistant dormant stages.

Malassezia Pneumonia: A Rare Complication of Parenteral Nutrition Therapy.

PubMed

Baker, Richelle M; Stegink, Ryan J; Manaloor, John J; Schmitt, Bryan H; Stevens, John C; Christenson, John C

2016-11-01

Malassezia species (formerly known as Pityrosporum) are part of normal human skin flora and have been associated with benign dermatologic conditions, such as seborrheic dermatitis and tinea versicolor. In rare cases, however, Malassezia has been associated with systemic disease in immunocompromised patients and infants in the neonatal intensive care unit. Malassezia species require long-chain fatty acids for growth and therefore have a known predilection for individuals receiving lipid containing intravenous parenteral nutrition (PN). Systemic infections are characterized by prolonged fevers and illness but can include nonspecific signs and symptoms. We present the diagnosis and management of a rare case of an immunocompetent, nonneonatal, PN-dependent child with Malassezia furfur pneumonia. © 2015 American Society for Parenteral and Enteral Nutrition.

Rare Earth Doped Yttrium Aluminum Garnet (YAG) Selective Emitters

NASA Technical Reports Server (NTRS)

Chubb, Donald L.; Pal, AnnaMarie T.; Patton, Martin O.; Jenkins, Phillip P.

1999-01-01

As a result of their electron structure, rare earth ions in crystals at high temperature emit radiation in several narrow bands rather than in a continuous blackbody manner. This study presents a spectral emittance model for films and cylinders of rare earth doped yttrium aluminum garnets. Good agreement between experimental and theoretical film spectral emittances was found for erbium and holmium aluminum garnets. Spectral emittances of films are sensitive to temperature differences across the film. For operating conditions of interest, the film emitter experiences a linear temperature variation whereas the cylinder emitter has a more advantageous uniform temperature. Emitter efficiency is also a sensitive function of temperature. For holminum aluminum garnet film the efficiency is 0.35 at 1446K but only 0.27 at 1270 K.

Formation of an integrated holding company to produce rare-earth metal articles

NASA Astrophysics Data System (ADS)

Bogdanov, S. V.; Grishaev, S. I.

2013-12-01

The possibility of formation of a Russian holding company for the production of rare-earth metal articles under conditions of its increasing demand on the world market is considered. It is reasonable to ensure stable business operation on the market under conditions of state-private partnership after the fraction of soled products is determined and supported by the competitive advantages of Russian products.

Rare deleterious mutations are associated with disease in bipolar disorder families.

PubMed

Rao, A R; Yourshaw, M; Christensen, B; Nelson, S F; Kerner, B

2017-07-01

Bipolar disorder (BD) is a common, complex and heritable psychiatric disorder characterized by episodes of severe mood swings. The identification of rare, damaging genomic mutations in families with BD could inform about disease mechanisms and lead to new therapeutic interventions. To determine whether rare, damaging mutations shared identity-by-descent in families with BD could be associated with disease, exome sequencing was performed in multigenerational families of the NIMH BD Family Study followed by in silico functional prediction. Disease association and disease specificity was determined using 5090 exomes from the Sweden-Schizophrenia (SZ) Population-Based Case-Control Exome Sequencing study. We identified 14 rare and likely deleterious mutations in 14 genes that were shared identity-by-descent among affected family members. The variants were associated with BD (P<0.05 after Bonferroni's correction) and disease specificity was supported by the absence of the mutations in patients with SZ. In addition, we found rare, functional mutations in known causal genes for neuropsychiatric disorders including holoprosencephaly and epilepsy. Our results demonstrate that exome sequencing in multigenerational families with BD is effective in identifying rare genomic variants of potential clinical relevance and also disease modifiers related to coexisting medical conditions. Replication of our results and experimental validation are required before disease causation could be assumed.

Model of the Phase Transition Mimicking the Pasta Phase in Cold and Dense Quark-Hadron Matter

NASA Astrophysics Data System (ADS)

Ayriyan, Alexander; Grigorian, Hovik

2018-02-01

A simple mixed phase model mimicking so-called "pasta" phases in the quarkhadron phase transition is developed and applied to static neutron stars for the case of DD2 type hadronic and NJL type quark matter models. The influence of the mixed phase on the mass-radius relation of the compact stars is investigated. Model parameters are chosen such that the results are in agreement with the mass-radius constraints.

Left Atrial Wall Dissection: A Rare Sequela of Native-Valve Endocarditis

PubMed Central

Isbitan, Ahmad; Roushdy, Alaa; Shamoon, Fayez

2015-01-01

Left atrial wall dissection is a rare condition; most cases are iatrogenic after mitral valve surgery. A few have been reported as sequelae of blunt chest trauma, acute myocardial infarction, and invasive cardiac procedures. On occasion, infective endocarditis causes left atrial wall dissection. We report a highly unusual case in which a 41-year-old man presented with native mitral valve infective endocarditis that had caused left atrial free-wall dissection. Although our patient died within an hour of presentation, we obtained what we consider to be a definitive diagnosis of a rare sequela, documented by transthoracic and transesophageal echocardiography. PMID:25873836

Recycling of rare earth metals from rare earth-transition metal alloy scrap by liquid metal extraction

DOEpatents

Ellis, T.W.; Schmidt, F.A.

1995-08-01

A method is described for treating rare earth metal-bearing scrap, waste or other material (e.g. Nd--Fe--B or Dy--Tb--Fe scrap) to recover the rare earth metal comprising melting the rare earth metal-bearing material, melting a Group IIA metal extractant, such as Mg, Ca, or Ba, in which the rare earth is soluble in the molten state, and contacting the melted material and melted extractant at a temperature and for a time effective to extract the rare earth from the melted material into the melted extractant. The rare earth metal is separated from the extractant metal by vacuum sublimation or distillation. 2 figs.

Social Fear Conditioning Paradigm in Virtual Reality: Social vs. Electrical Aversive Conditioning.

PubMed

Reichenberger, Jonas; Porsch, Sonja; Wittmann, Jasmin; Zimmermann, Verena; Shiban, Youssef

2017-01-01

In a previous study we could show that social fear can be induced and extinguished using virtual reality (VR). In the present study, we aimed to investigate the belongingness effect in an operant social fear conditioning (SFC) paradigm which consisted of an acquisition and an extinction phase. Forty-three participants used a joystick to approach different virtual male agents that served as conditioned stimuli. Participants were randomly allocated to one of two experimental conditions. In the electroshock condition, the unconditioned stimulus (US) used during acquisition was an electric stimulation. In the social threat condition, the US consisted of an offense: a spit in the face, mimicked by a sound and a weak air blast to the participant's neck combined with an insult. In both groups the US was presented when participants were close to the agent (75% contingency for CS+). Outcome variables included subjective, psychophysiological and behavioral data. As expected, fear and contingency ratings increased significantly during acquisition and the differentiation between CS+ and CS- vanished during extinction. Furthermore, a clear difference in skin conductance between CS+ and CS- at the beginning of the acquisition indicated that SFC had been successful. However, a fast habituation to the US was found toward the end of the acquisition phase for the physiological response. Furthermore, participants showed avoidance behavior toward CS+ in both conditions. The results show that social fear can successfully be induced and extinguished in VR in a human sample. Thus, our paradigm can help to gain insight into learning and unlearning of social fear. Regarding the belongingness effect, the social threat condition benefits from a better differentiation between the aversive and the non-aversive stimuli. As next step we suggest comparing social-phobic patients to healthy controls in order to investigate possible differences in discrimination learning and to foster the

Social Fear Conditioning Paradigm in Virtual Reality: Social vs. Electrical Aversive Conditioning

PubMed Central

Reichenberger, Jonas; Porsch, Sonja; Wittmann, Jasmin; Zimmermann, Verena; Shiban, Youssef

2017-01-01

In a previous study we could show that social fear can be induced and extinguished using virtual reality (VR). In the present study, we aimed to investigate the belongingness effect in an operant social fear conditioning (SFC) paradigm which consisted of an acquisition and an extinction phase. Forty-three participants used a joystick to approach different virtual male agents that served as conditioned stimuli. Participants were randomly allocated to one of two experimental conditions. In the electroshock condition, the unconditioned stimulus (US) used during acquisition was an electric stimulation. In the social threat condition, the US consisted of an offense: a spit in the face, mimicked by a sound and a weak air blast to the participant’s neck combined with an insult. In both groups the US was presented when participants were close to the agent (75% contingency for CS+). Outcome variables included subjective, psychophysiological and behavioral data. As expected, fear and contingency ratings increased significantly during acquisition and the differentiation between CS+ and CS- vanished during extinction. Furthermore, a clear difference in skin conductance between CS+ and CS- at the beginning of the acquisition indicated that SFC had been successful. However, a fast habituation to the US was found toward the end of the acquisition phase for the physiological response. Furthermore, participants showed avoidance behavior toward CS+ in both conditions. The results show that social fear can successfully be induced and extinguished in VR in a human sample. Thus, our paradigm can help to gain insight into learning and unlearning of social fear. Regarding the belongingness effect, the social threat condition benefits from a better differentiation between the aversive and the non-aversive stimuli. As next step we suggest comparing social-phobic patients to healthy controls in order to investigate possible differences in discrimination learning and to foster the

Protein-mimicking nanowire-inspired electro-catalytic biosensor for probing acetylcholinesterase activity and its inhibitors.

PubMed

Zhang, Qingqing; Hu, Yufang; Wu, Di; Ma, Shaohua; Wang, Jiao; Rao, Jiajia; Xu, Lihua; Xu, Huan; Shao, Huili; Guo, Zhiyong; Wang, Sui

2018-06-01

A highly sensitive electrochemical biosensor based on the synthetized L-Cysteine-Ag(I) coordination polymer (L-Cys-Ag(I) CP), which looks like a protein-mimicking nanowire, was constructed to detect acetylcholinesterase (AChE) activity and screen its inhibitors. This sensing strategy involves the reaction of acetylcholine chloride (ACh) with acetylcholinesterase (AChE) to form choline that is in turn catalytically oxidized by choline oxidase (ChOx) to produce hydrogen peroxide (H 2 O 2 ), thus L-Cys-Ag(I) CP possesses the electro-catalytic property to H 2 O 2 reduction. Herein, the protein-mimicking nanowire-based platform was capable of investigating successive of H 2 O 2 effectively by amperometric i-t (current-time) response, and was further applied for the turn-on electrochemical detection of AChE activity. The proposed sensor is highly sensitive (limit of detection is 0.0006 U/L) and is feasible for screening inhibitors of AChE. The model for AChE inhibition was further established and two traditional AChE inhibitors (donepezil and tacrine) were employed to verify the feasibility of the system. The IC 5 0 of donepezil and tacrine were estimated to be 1.4 nM and 3.5 nM, respectively. The developed protocol provides a new and promising platform for probing AChE activity and screening its inhibitors with low cost, high sensitivity and selectivity. Copyright © 2018 Elsevier B.V. All rights reserved.

Mammary and femoral hydatid cysts.

PubMed

Shamim, Muhammad

2010-08-01

Hydatid cyst disease most commonly affects liver and lungs, but it can affect all viscera and soft tissues of the body. Simultaneous mammary and femoral hydatid cysts, without any other visceral involvement, are extremely rare. This is a case report of 25-years-old female, presenting with lump in left breast mimicking fibroadenoma and lump in right thigh mimicking fibroma. Both turned out to be hydatid cysts.

From Rare to Dominant: a Fine-Tuned Soil Bacterial Bloom during Petroleum Hydrocarbon Bioremediation.

PubMed

Fuentes, Sebastián; Barra, Bárbara; Caporaso, J Gregory; Seeger, Michael

2016-02-01

Hydrocarbons are worldwide-distributed pollutants that disturb various ecosystems. The aim of this study was to characterize the short-lapse dynamics of soil microbial communities in response to hydrocarbon pollution and different bioremediation treatments. Replicate diesel-spiked soil microcosms were inoculated with either a defined bacterial consortium or a hydrocarbonoclastic bacterial enrichment and incubated for 12 weeks. The microbial community dynamics was followed weekly in microcosms using Illumina 16S rRNA gene sequencing. Both the bacterial consortium and enrichment enhanced hydrocarbon degradation in diesel-polluted soils. A pronounced and rapid bloom of a native gammaproteobacterium was observed in all diesel-polluted soils. A unique operational taxonomic unit (OTU) related to the Alkanindiges genus represented ∼ 0.1% of the sequences in the original community but surprisingly reached >60% after 6 weeks. Despite this Alkanindiges-related bloom, inoculated strains were maintained in the community and may explain the differences in hydrocarbon degradation. This study shows the detailed dynamics of a soil bacterial bloom in response to hydrocarbon pollution, resembling microbial blooms observed in marine environments. Rare community members presumably act as a reservoir of ecological functions in high-diversity environments, such as soils. This rare-to-dominant bacterial shift illustrates the potential role of a rare biosphere facing drastic environmental disturbances. Additionally, it supports the concept of "conditionally rare taxa," in which rareness is a temporary state conditioned by environmental constraints. Copyright © 2016, American Society for Microbiology. All Rights Reserved.

From Rare to Dominant: a Fine-Tuned Soil Bacterial Bloom during Petroleum Hydrocarbon Bioremediation

PubMed Central

Fuentes, Sebastián; Barra, Bárbara; Caporaso, J. Gregory

2015-01-01

Hydrocarbons are worldwide-distributed pollutants that disturb various ecosystems. The aim of this study was to characterize the short-lapse dynamics of soil microbial communities in response to hydrocarbon pollution and different bioremediation treatments. Replicate diesel-spiked soil microcosms were inoculated with either a defined bacterial consortium or a hydrocarbonoclastic bacterial enrichment and incubated for 12 weeks. The microbial community dynamics was followed weekly in microcosms using Illumina 16S rRNA gene sequencing. Both the bacterial consortium and enrichment enhanced hydrocarbon degradation in diesel-polluted soils. A pronounced and rapid bloom of a native gammaproteobacterium was observed in all diesel-polluted soils. A unique operational taxonomic unit (OTU) related to the Alkanindiges genus represented ∼0.1% of the sequences in the original community but surprisingly reached >60% after 6 weeks. Despite this Alkanindiges-related bloom, inoculated strains were maintained in the community and may explain the differences in hydrocarbon degradation. This study shows the detailed dynamics of a soil bacterial bloom in response to hydrocarbon pollution, resembling microbial blooms observed in marine environments. Rare community members presumably act as a reservoir of ecological functions in high-diversity environments, such as soils. This rare-to-dominant bacterial shift illustrates the potential role of a rare biosphere facing drastic environmental disturbances. Additionally, it supports the concept of “conditionally rare taxa,” in which rareness is a temporary state conditioned by environmental constraints. PMID:26590285

Restless legs syndrome mimicking S1 radiculopathy.

PubMed

Zambelis, Th; Wolgamuth, B R; Papoutsi, S N; Economou, N T

2016-01-01

mimicking several pathological conditions, Restless Legs Syndrome prevalence on general population according to various large epidemiological studies and pathogenic hypotheses on the issue of Restless Legs Syndrome are discussed. Finally, by presenting another possible "RLS-mimic" our aim is to highlight the common misdiagnosis of Restless Legs Syndrome, which can mimic a variety of disorders, some of which are very common, such as an S1 radiculopathy, thus raising concern among doctors of various specialties addressed to by Restless Legs Syndrome sufferers, on the importance of proper diagnosis of the syndrome.

Refined potentials for rare gas atom adsorption on rare gas and alkali-halide surfaces

NASA Technical Reports Server (NTRS)

Wilson, J. W.; Heinbockel, J. H.; Outlaw, R. A.

1985-01-01

The utilization of models of interatomic potential for physical interaction to estimate the long range attractive potential for rare gases and ions is discussed. The long range attractive force is calculated in terms of the atomic dispersion properties. A data base of atomic dispersion parameters for rare gas atoms, alkali ion, and halogen ions is applied to the study of the repulsive core; the procedure for evaluating the repulsive core of ion interactions is described. The interaction of rare gas atoms on ideal rare gas solid and alkali-halide surfaces is analyzed; zero coverage absorption potentials are derived.

Nanogranular SiO2 proton gated silicon layer transistor mimicking biological synapses

NASA Astrophysics Data System (ADS)

Liu, M. J.; Huang, G. S.; Feng, P.; Guo, Q. L.; Shao, F.; Tian, Z. A.; Li, G. J.; Wan, Q.; Mei, Y. F.

2016-06-01

Silicon on insulator (SOI)-based transistors gated by nanogranular SiO2 proton conducting electrolytes were fabricated to mimic synapse behaviors. This SOI-based device has both top proton gate and bottom buried oxide gate. Electrical transfer properties of top proton gate show hysteresis curves different from those of bottom gate, and therefore, excitatory post-synaptic current and paired pulse facilitation (PPF) behavior of biological synapses are mimicked. Moreover, we noticed that PPF index can be effectively tuned by the spike interval applied on the top proton gate. Synaptic behaviors and functions, like short-term memory, and its properties are also experimentally demonstrated in our device. Such SOI-based electronic synapses are promising for building neuromorphic systems.

Utilizing population controls in rare-variant case-parent association tests.

PubMed

Jiang, Yu; Satten, Glen A; Han, Yujun; Epstein, Michael P; Heinzen, Erin L; Goldstein, David B; Allen, Andrew S

2014-06-05

There is great interest in detecting associations between human traits and rare genetic variation. To address the low power implicit in single-locus tests of rare genetic variants, many rare-variant association approaches attempt to accumulate information across a gene, often by taking linear combinations of single-locus contributions to a statistic. Using the right linear combination is key-an optimal test will up-weight true causal variants, down-weight neutral variants, and correctly assign the direction of effect for causal variants. Here, we propose a procedure that exploits data from population controls to estimate the linear combination to be used in an case-parent trio rare-variant association test. Specifically, we estimate the linear combination by comparing population control allele frequencies with allele frequencies in the parents of affected offspring. These estimates are then used to construct a rare-variant transmission disequilibrium test (rvTDT) in the case-parent data. Because the rvTDT is conditional on the parents' data, using parental data in estimating the linear combination does not affect the validity or asymptotic distribution of the rvTDT. By using simulation, we show that our new population-control-based rvTDT can dramatically improve power over rvTDTs that do not use population control information across a wide variety of genetic architectures. It also remains valid under population stratification. We apply the approach to a cohort of epileptic encephalopathy (EE) trios and find that dominant (or additive) inherited rare variants are unlikely to play a substantial role within EE genes previously identified through de novo mutation studies. Copyright © 2014 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.

Ames Lab 101: Rare Earths

ScienceCinema

Gschneidner, Karl

2017-12-11

"Mr. Rare Earth," Ames Laboratory scientist Karl Gschneidner Jr., explains the importance of rare-earth materials in many of the technologies we use today -- ranging from computers to hybrid cars to wind turbines. Gschneidner is a world renowned rare-earths expert at the U.S. Department of Energy's Ames Laboratory.

Biogeochemistry of the rare-earth elements with particular reference to hickory trees

USGS Publications Warehouse

Robinson, W.O.; Bastron, H.; Murata, K.J.

1958-01-01

Hickory trees concentrate the rare-earth elements in their leaves to a phenomenal degree and may contain as much as 2300 p.p.m. of total rare earths based on the dry weight of the leaves. The average proportions of the individual elements (atomic percent of the total rare-earth elements) in the leaves are: Y 36, La 16, Ce 14, Pr 2, Nd 20, Sm 1, Eu 0.7, Gd 3, Tb 0.6, Dy 3, Ho 0.7, Er 2, Tm 0.2, Yb 1, and Lu 0.2. The similarity in the proportions of the rare-earth elements in the leaves and in the exchange complex of the soil on which the hickory trees grow indicates that the trees do not fractionate the rare earths appreciably. The variation of the rare-earth elements in the leaves and soils can be explained generally in terms of the relative abundance of the cerium group and the yttrium group, except for the element cerium. The large fluctuations in the proportion of cerium [Ce/(La + Nd) atomic ratios of 0.16 to 0.86] correlate with oxidation-reduction conditions in the soil profile. The substitution of dilute H2SO3 for dilute HC1 in the determination of available rare-earth elements brings about a large increase in the proportion of cerium that is extracted from an oxygenated subsoil. These relationships strongly suggest that quadrivalent cerium is present in oxygenated subsoil and is less available to plants than the other rare-earth elements that do not undergo such a change in valence. A few parts per billion of rare-earth elements have been detected in two samples of ground water. ?? 1958.

Wave propagation in metamaterials mimicking the topology of a cosmic string

NASA Astrophysics Data System (ADS)

Fernández-Núñez, Isabel; Bulashenko, Oleg

2018-04-01

We study the interference and diffraction of light when it propagates through a metamaterial medium mimicking the spacetime of a cosmic string—a topological defect with curvature singularity. The phenomenon may look like a gravitational analogue of the Aharonov-Bohm effect, since the light propagates in a region where the Riemann tensor vanishes, being nonetheless affected by the non-zero curvature confined to the string core. We carry out the full-wave numerical simulation of the metamaterial medium and give the analytical interpretation of the results by use of the asymptotic theory of diffraction, which turns out to be in excellent agreement. In particular, we show that the main features of wave propagation in a medium with conical singularity can be explained by four-wave interference involving two geometrical optics and two diffracted waves.

Gadolinium-Based Contrast Agent Extravasation Mimicking Subarachnoid Hemorrhage After Electroconvulsive Therapy.

PubMed

Taydas, Onur; Ogul, Hayri; Ozcan, Halil; Kantarci, Mecit

2018-06-01

Electroconvulsive therapy (ECT) is a safe method that has been applied for many years in medical treatment-resistant depression treatment. In this case report, contrast extravasation due to deterioration of the blood-brain barrier after ECT mimicking subarachnoid hemorrhage (SAH) on magnetic resonance imaging (MRI) is discussed. A 70-year-old male patient who underwent ECT presented with sulcal hyperintensities suggesting subarachnoid hemorrhage on fluid-attenuated inversion recovery sequence of MRI obtained after ECT. However, there was no evidence to suggest SAH on nonenhanced brain computed tomography. It should be kept in mind that patients may have contrast extravasation due to deterioration of the blood-brain barrier after ECT, and other alternative methods should be used for the diagnosis of SAH in these patients, not MRI. Copyright © 2018 Elsevier Inc. All rights reserved.

Actinomyces naeslundii and Eikenella corrodens as rare causes of liver abscesses.

PubMed

Jaqua, Nathan Thomas; Smith, Adam J; Shin, Terry T; Jahanmir, Jay

2013-07-17

A 48-year-old man with an unremarkable medical history was admitted with vague conditions of fever, chills, myalgias and malaise. Physical examination was remarkable for only scleral icterus. Laboratory evaluation revealed elevated aminotransferases, alkaline phosphatase and bilirubin. Imaging demonstrated two masses in the right lobe of his liver, which were ultimately drained and cultures demonstrated Actinomyces and Eikenella. He continued to have fever on broad-spectrum antibiotics until catheter drainage of the abscesses was performed. He was eventually discharged in improved condition on amoxicillin-clavulanate. His aminotransferases, alkaline phosphatase and bilirubin continued to improve and he remained afebrile and asymptomatic. A repeat CT 2 months after discharge demonstrated resolution of the abscesses. Actinomyces and Eikenella are rare causes of liver abscesses and treatment requires drainage and an extended course of antibiotics. The polymicrobial character typical of liver abscesses makes antibiotic therapy challenging when cultures reveal rare organisms such as Actinomyces and Eikenella.

Insight into congenital absence of the portal vein: Is it rare?

PubMed Central

Shen, Guo-Hua Hu‚ Lai-Gen; Zhu, Jin Yang‚ Jin-Hua Mei‚ Yue-Feng

2008-01-01

Congenital absence of portal vein (CAPV) was a rare event in the past. However, the number of detected CAPV cases has increased in recent years because of advances in imaging techniques. Patients with CAPV present with portal hypertension (PH) or porto-systemic encephalopathy (PSE), but these conditions rarely occur until the patients grow up or become old. The patients usually visit doctors for the complications of venous shunts, hepatic or cardiac abnormalities detected by ultrasonography (US), computed tomography (CT) and magnetic resonance imaging (MRI). The etiology of this disease is not clear, but most investigators consider that it is associated with abnormal embryologic development of the portal vein. Usually, surgical intervention can relieve the symptoms and prevent occurrence of complications in CAPV patients. Moreover, its management should be stressed on a case-by-case basis, depending on the type or anatomy of the disease, as well as the symptoms and clinical conditions of the patient. PMID:18932274

Insight into congenital absence of the portal vein: is it rare?

PubMed

Hu, Guo-Hua; Shen, Lai-Gen; Yang, Jin; Mei, Jin-Hua; Zhu, Yue-Feng

2008-10-21

Congenital absence of portal vein (CAPV) was a rare event in the past. However, the number of detected CAPV cases has increased in recent years because of advances in imaging techniques. Patients with CAPV present with portal hypertension (PH) or portosystemic encephalopathy (PSE), but these conditions rarely occur until the patients grow up or become old. The patients usually visit doctors for the complications of venous shunts, hepatic or cardiac abnormalities detected by ultrasonography (US), computed tomography (CT) and magnetic resonance imaging (MRI). The etiology of this disease is not clear, but most investigators consider that it is associated with abnormal embryologic development of the portal vein. Usually, surgical intervention can relieve the symptoms and prevent occurrence of complications in CAPV patients. Moreover, its management should be stressed on a case-by-case basis, depending on the type or anatomy of the disease, as well as the symptoms and clinical conditions of the patient.

A diagnostic challenge: a case of acrodermatitis enteropathica without hypozincemia and with maternal milk of low zinc level.

PubMed

Tatlican, Semih; Yamangokturk, Burcu; Eren, Cemile; Gulbahar, Ozlem; Eskioglu, Fatma

2010-01-01

Acrodermatitis enteropathica is a rare and distinct form of zinc deficiency with a requirement of life-long zinc supplementation and inherited in a recessive manner. Transient nutritional zinc deficiency is also a well known condition mimicking acrodermatitis enteropathica like skin changes in preterm and term infants who are generally breastfed with a low level of zinc containing milk. Here, a 4-month-old male, term and fully breastfed acrodermatitis enteropathica case without hypozincemia and with maternal milk of low zinc level is presented. © 2010 Wiley Periodicals, Inc.

Metallic rare-earth silicide nanowires on silicon surfaces.

PubMed

Dähne, Mario; Wanke, Martina

2013-01-09

The formation, atomic structure, and electronic properties of self-assembled rare-earth silicide nanowires on silicon surfaces were studied by scanning tunneling microscopy and angle-resolved photoelectron spectroscopy. Metallic dysprosium and erbium silicide nanowires were observed on both the Si(001) and Si(557) surfaces. It was found that they consist of hexagonal rare-earth disilicides for both surface orientations. On Si(001), the nanowires are characterized by a one-dimensional band structure, while the electronic dispersion is two-dimensional for the nanowires formed on Si(557). This behavior is explained by the different orientations of the hexagonal c axis of the silicide leading to different conditions for the carrier confinement. By considering this carrier confinement it is demonstrated how the one-dimensional band structure of the nanowires on Si(001) can be derived from the two-dimensional one of the silicide monolayer on Si(111).

Predicting habitat suitability for rare plants at local spatial scales using a species distribution model.

PubMed

Gogol-Prokurat, Melanie

2011-01-01

If species distribution models (SDMs) can rank habitat suitability at a local scale, they may be a valuable conservation planning tool for rare, patchily distributed species. This study assessed the ability of Maxent, an SDM reported to be appropriate for modeling rare species, to rank habitat suitability at a local scale for four edaphic endemic rare plants of gabbroic soils in El Dorado County, California, and examined the effects of grain size, spatial extent, and fine-grain environmental predictors on local-scale model accuracy. Models were developed using species occurrence data mapped on public lands and were evaluated using an independent data set of presence and absence locations on surrounding lands, mimicking a typical conservation-planning scenario that prioritizes potential habitat on unsurveyed lands surrounding known occurrences. Maxent produced models that were successful at discriminating between suitable and unsuitable habitat at the local scale for all four species, and predicted habitat suitability values were proportional to likelihood of occurrence or population abundance for three of four species. Unfortunately, models with the best discrimination (i.e., AUC) were not always the most useful for ranking habitat suitability. The use of independent test data showed metrics that were valuable for evaluating which variables and model choices (e.g., grain, extent) to use in guiding habitat prioritization for conservation of these species. A goodness-of-fit test was used to determine whether habitat suitability values ranked habitat suitability on a continuous scale. If they did not, a minimum acceptable error predicted area criterion was used to determine the threshold for classifying habitat as suitable or unsuitable. I found a trade-off between model extent and the use of fine-grain environmental variables: goodness of fit was improved at larger extents, and fine-grain environmental variables improved local-scale accuracy, but fine-grain variables

HDR syndrome with a novel mutation in GATA3 mimicking a congenital X-linked stapes gusher: a case report.

PubMed

Yang, Aram; Kim, Jinsup; Ki, Chang-Seok; Hong, Sung Hwa; Cho, Sung Yoon; Jin, Dong-Kyu

2017-10-26

Hypoparathyroidism, sensorineural hearing loss, and renal disease (HDR) syndrome, also known as Barakat syndrome, is a rare genetic disorder with high phenotypic heterogeneity caused by haploinsufficiency of the GATA3 gene on chromosome 10p14-p15. For these reasons, the diagnosis of HDR syndrome is challenging and requires a high index of suspicion as well as genetic analysis. A 14-month-old boy, with sensorineural hearing loss in both ears, showed typical radiological features of X-linked stapes gusher on preoperative temporal bone computed tomography (CT) for cochlear implantations. Then after his discharge from hospital, he suffered a hypocalcemic seizure and we discovered a renal cyst during investigation of hypocalcemia. He was finally diagnosed with HDR syndrome by clinical findings, which were confirmed by molecular genetic testing. Direct sequencing of the GATA3 gene showed a heterozygous 2-bp deletion (c.1201_1202delAT), which is predicted to cause a frameshift of the reading frame (p.Met401Valfs*106). To our knowledge, this is the first case of HDR syndrome with a novel de novo variant mimicking a congenital X-linked stapes gusher syndrome. Novel mutations and the diversity of clinical manifestations expand the genotypic and phenotypic spectrum of HDR syndrome. Diagnosis of HDR syndrome is still challenging, but clinicians should consider it in their differential diagnosis for children with a wide range of clinical manifestations including hypocalcemia induced seizures and deafness. We hope that this case will contribute to further understanding and studies of HDR-associated GATA3 mutations.

Choice of valve prosthesis in a rare clinical condition: aortic stenosis due to alkaptonuria.

PubMed

Thakur, Sameer; Markman, Phuong; Cullen, Hugh

2013-10-01

Alkaptonuria is a rare inherited disorder of tyrosine metabolism, which results in deposition of homogentisic acid in the connective tissues. The accumulation of homogentisic acid in connective tissue causes the syndrome known as ochronosis, which is typically manifested by skin pigmentation, degenerative arthropathy and discolouration of urine. Cardiovascular involvement is a much less common complication of alkaptonuria but poses a greater risk to the patient's health. We present the case of a 65 year-old man with aortic stenosis and a previous diagnosis of alkaptonuria who underwent successful aortic valve replacement with a mechanical prosthesis. Crown Copyright © 2013. Published by Elsevier B.V. All rights reserved.

Characteristics and genesis of Rare Earth Element (REE) in western Indonesia

NASA Astrophysics Data System (ADS)

Handoko, A. D.; Sanjaya, E.

2018-02-01

Rare Earth Element (REE) has unique properties that have been used in many hightech applications. The demand of REE increased recently in the world due to its special properties. Although REE concentration in the crust is higher than gold, economically viable deposits are still rare. Reduction of REE exports by China cause increased prices of REE. Due to this condition, exploration of potential REE mines emerged. Indonesia also participates in this phenomenon, and explore the possibility of REE mines in its area. This review will discuss the characteristics and genesis of REE and its occurrence in western Indonesia; focused in Sumatera, Tin Island, and Kalimantan. The review is done based on literature research from several resources about characteristics of rare earth element in general and in the given area. The research shows that the potential REE mines can be found in several different locations in Indonesia, such as Tin Island, Sumatera, and Kalimantan. Most of them are composed of monazite, zircon, and xenotime as rare earth minerals. Monazite iss known for its elevated number of radioactive elements, so study about radioactive content and more environment friendly ore processing becomes compulsory.

Tinea profunda of the genital area. Successful treatment of a rare skin disease.

PubMed

Bakardzhiev, Ilko; Chokoeva, Anastasiya; Tchernev, Georgi; Wollina, Uwe; Lotti, Torello

2016-05-01

We present a rare case of 36-year-old female patient, who developed a severe Majocchi granuloma in the pubis after waxing, with isolated causative agent Trichophyton mentagrophytes. The condition was initially misdiagnosed as a bacterial folliculitis and treated unsuccessfully with topical corticosteroids and antibiotics. After the adequate diagnose was confirmed by mycological examination, followed by histopathological verification, complete remission of the symptoms was achieved at the 4th week after initiating 6 weeks course of antifungal therapy with Terbinafine 250 mg/daily dose, while good therapeutic response was observed even in the 10th day. The etiopathogenesis of the disease, as well as its current treatment options are considered, in respect to the rare occurrence of this condition in the pubic area and its frequent misdiagnosis. © 2015 Wiley Periodicals, Inc.

Raman scattering of rare earth hexaborides

NASA Astrophysics Data System (ADS)

Ogita, Norio; Hasegawa, Takumi; Udagawa, Masayuki; Iga, Fumitoshi; Kunii, Satoru

2009-06-01

Raman scattering spectra were measured for the rare-earth hexaborides RB6 (R = Ce, Gd, or Dy). All Raman-active phonons due to B6 vibrations were observed in the range 600 - 1400 cm-1. Anomalous peaks were detected below 200 cm-1, which correspond to vibrations of rare-earth ion excited by second-order Raman scattering process. The intensity and energy of the rare-earth mode decrease with decreasing temperature. This suggests that the rare-earth ion vibrates in a shallow and anharmonic potential due to the boron cage. Using the reported values of mean square displacement of rare-earth ion, we estimated the anharmonic contribution for the rare-earth vibrations.

Human in vitro 3D co-culture model to engineer vascularized bone-mimicking tissues combining computational tools and statistical experimental approach.

PubMed

Bersini, Simone; Gilardi, Mara; Arrigoni, Chiara; Talò, Giuseppe; Zamai, Moreno; Zagra, Luigi; Caiolfa, Valeria; Moretti, Matteo

2016-01-01

The generation of functional, vascularized tissues is a key challenge for both tissue engineering applications and the development of advanced in vitro models analyzing interactions among circulating cells, endothelium and organ-specific microenvironments. Since vascularization is a complex process guided by multiple synergic factors, it is critical to analyze the specific role that different experimental parameters play in the generation of physiological tissues. Our goals were to design a novel meso-scale model bridging the gap between microfluidic and macro-scale studies, and high-throughput screen the effects of multiple variables on the vascularization of bone-mimicking tissues. We investigated the influence of endothelial cell (EC) density (3-5 Mcells/ml), cell ratio among ECs, mesenchymal stem cells (MSCs) and osteo-differentiated MSCs (1:1:0, 10:1:0, 10:1:1), culture medium (endothelial, endothelial + angiopoietin-1, 1:1 endothelial/osteo), hydrogel type (100%fibrin, 60%fibrin+40%collagen), tissue geometry (2 × 2 × 2, 2 × 2 × 5 mm(3)). We optimized the geometry and oxygen gradient inside hydrogels through computational simulations and we analyzed microvascular network features including total network length/area and vascular branch number/length. Particularly, we employed the "Design of Experiment" statistical approach to identify key differences among experimental conditions. We combined the generation of 3D functional tissue units with the fine control over the local microenvironment (e.g. oxygen gradients), and developed an effective strategy to enable the high-throughput screening of multiple experimental parameters. Our approach allowed to identify synergic correlations among critical parameters driving microvascular network development within a bone-mimicking environment and could be translated to any vascularized tissue. Copyright © 2015 Elsevier Ltd. All rights reserved.

Organelle-mimicking liposome dissociates G-quadruplexes and facilitates transcription

PubMed Central

Pramanik, Smritimoy; Tateishi-Karimata, Hisae; Sugimoto, Naoki

2014-01-01

Important biological reactions involving nucleic acids occur near the surface of membranes such as the nuclear membrane (NM) and rough endoplasmic reticulum (ER); however, the interactions between biomembranes and nucleic acids are poorly understood. We report here that transcription was facilitated in solution with liposomes, which mimic a biomembrane surface, relative to the reaction in a homogeneous aqueous solution when the template was able to form a G-quadruplex. The G-quadruplex is known to be an inhibitor of transcription, but the stability of the G-quadruplex was decreased at the liposome surface because of unfavourable enthalpy. The destabilization of the G-quadruplex was greater at the surface of NM- and ER-mimicking liposomes than at the surfaces of liposomes designed to mimic other organelles. Thermodynamic analyses revealed that the G-rich oligonucleotides adopted an extended structure at the liposome surface, whereas in solution the compact G-quadruplex was formed. Our data suggest that changes in structure and stability of nucleic acids regulate biological reactions at membrane surfaces. PMID:25336617

The rare association of tetralogy of Fallot with hypertrophic cardiomyopathy. Report of 2 neonatal patients.

PubMed Central

Lewin, M B; Towbin, J A; Thapar, M K; Dreyer, W J; Feltes, T F

1997-01-01

Although tetralogy of Fallot is commonly associated with other congenital heart defects, it is rarely found in conjunction with hypertrophic cardiomyopathy. We describe the cases of 2 neonates with this rare condition, both of whom required surgical intervention during infancy. Because hypertrophic cardiomyopathy is frequently familial, and tetralogy of Fallot is commonly found in patients diagnosed with chromosomal anomalies, we speculate about a possible genetic cause for this association. PMID:9339511

Congruent Strain Specific Intestinal Persistence of Lactobacillus plantarum in an Intestine-Mimicking In Vitro System and in Human Volunteers

PubMed Central

van Bokhorst-van de Veen, Hermien; van Swam, Iris; Wels, Michiel; Bron, Peter A.; Kleerebezem, Michiel

2012-01-01

Background An important trait of probiotics is their capability to reach their intestinal target sites alive to optimally exert their beneficial effects. Assessment of this trait in intestine-mimicking in vitro model systems has revealed differential survival of individual strains of a species. However, data on the in situ persistence characteristics of individual or mixtures of strains of the same species in the gastrointestinal tract of healthy human volunteers have not been reported to date. Methodology/Principal Findings The GI-tract survival of individual L. plantarum strains was determined using an intestine mimicking model system, revealing substantial inter-strain differences. The obtained data were correlated to genomic diversity of the strains using comparative genome hybridization (CGH) datasets, but this approach failed to discover specific genetic loci that explain the observed differences between the strains. Moreover, we developed a next-generation sequencing-based method that targets a variable intergenic region, and employed this method to assess the in vivo GI-tract persistence of different L. plantarum strains when administered in mixtures to healthy human volunteers. Remarkable consistency of the strain-specific persistence curves were observed between individual volunteers, which also correlated significantly with the GI-tract survival predicted on basis of the in vitro assay. Conclusion The survival of individual L. plantarum strains in the GI-tract could not be correlated to the absence or presence of specific genes compared to the reference strain L. plantarum WCFS1. Nevertheless, in vivo persistence analysis in the human GI-tract confirmed the strain-specific persistence, which appeared to be remarkably similar in different healthy volunteers. Moreover, the relative strain-specific persistence in vivo appeared to be accurately and significantly predicted by their relative survival in the intestine-mimicking in vitro assay, supporting the

Phase stable rare earth garnets

DOEpatents

Kuntz, Joshua D.; Cherepy, Nerine J.; Roberts, Jeffery J.; Payne, Stephen A.

2013-06-11

A transparent ceramic according to one embodiment includes a rare earth garnet comprising A.sub.hB.sub.iC.sub.jO.sub.12, where h is 3.+-.10%, i is 2.+-.10%, and j is 3.+-.10%. A includes a rare earth element or a mixture of rare earth elements, B includes at least one of aluminum, gallium and scandium, and C includes at least one of aluminum, gallium and scandium, where A is at a dodecahedral site of the garnet, B is at an octahedral site of the garnet, and C is at a tetrahedral site of the garnet. In one embodiment, the rare earth garment has scintillation properties. A radiation detector in one embodiment includes a transparent ceramic as described above and a photo detector optically coupled to the rare earth garnet.

Multimodal, 3D pathology-mimicking bladder phantom for evaluation of cystoscopic technologies (Conference Presentation)

NASA Astrophysics Data System (ADS)

Smith, Gennifer T.; Lurie, Kristen L.; Zlatev, Dimitar V.; Liao, Joseph C.; Ellerbee, Audrey K.

2016-02-01

Optical coherence tomography (OCT) and blue light cystoscopy (BLC) have shown significant potential as complementary technologies to traditional white light cystoscopy (WLC) for early bladder cancer detection. Three-dimensional (3D) organ-mimicking phantoms provide realistic imaging environments for testing new technology designs, the diagnostic potential of systems, and novel image processing algorithms prior to validation in real tissue. Importantly, the phantom should mimic features of healthy and diseased tissue as they appear under WLC, BLC, and OCT, which are sensitive to tissue color and structure, fluorescent contrast, and optical scattering of subsurface layers, respectively. We present a phantom posing the hollow shape of the bladder and fabricated using a combination of 3D-printing and spray-coating with Dragon Skin (DS) (Smooth-On Inc.), a highly elastic polymer to mimic the layered structure of the bladder. Optical scattering of DS was tuned by addition of titanium dioxide, resulting in scattering coefficients sufficient to cover the human bladder range (0.49 to 2.0 mm^-1). Mucosal vasculature and tissue coloration were mimicked with elastic cord and red dye, respectively. Urethral access was provided through a small hole excised from the base of the phantom. Inserted features of bladder pathology included altered tissue color (WLC), fluorescence emission (BLC), and variations in layered structure (OCT). The phantom surface and underlying material were assessed on the basis of elasticity, optical scattering, layer thicknesses, and qualitative image appearance. WLC, BLC, and OCT images of normal and cancerous features in the phantom qualitatively matched corresponding images from human bladders.

Hypercementosis and odontogenic epithelial hyperplasia associated with a tooth root remnant mimicking a neoplasm. A case report.

PubMed

Zustin, J; Friedrich, R E

2010-01-01

Hypercementosis presents as painless, single or multiple non-neoplastic cementum formation beyond the physiological limits of the tooth. It often occurs in the apical area of the involved tooth following infection, chemical or mechanical trauma. We report on radiographic and histopathological findings in a single case of late intraosseous hypercementosis and odontogenic epithelial hyperplasia associated with a minute apical tooth root remnant years after its extraction, mimicking a tumour.

Micro-scale finite element modeling of ultrasound propagation in aluminum trabecular bone-mimicking phantoms: A comparison between numerical simulation and experimental results.

PubMed

Vafaeian, B; Le, L H; Tran, T N H T; El-Rich, M; El-Bialy, T; Adeeb, S

2016-05-01

The present study investigated the accuracy of micro-scale finite element modeling for simulating broadband ultrasound propagation in water-saturated trabecular bone-mimicking phantoms. To this end, five commercially manufactured aluminum foam samples as trabecular bone-mimicking phantoms were utilized for ultrasonic immersion through-transmission experiments. Based on micro-computed tomography images of the same physical samples, three-dimensional high-resolution computational samples were generated to be implemented in the micro-scale finite element models. The finite element models employed the standard Galerkin finite element method (FEM) in time domain to simulate the ultrasonic experiments. The numerical simulations did not include energy dissipative mechanisms of ultrasonic attenuation; however, they expectedly simulated reflection, refraction, scattering, and wave mode conversion. The accuracy of the finite element simulations were evaluated by comparing the simulated ultrasonic attenuation and velocity with the experimental data. The maximum and the average relative errors between the experimental and simulated attenuation coefficients in the frequency range of 0.6-1.4 MHz were 17% and 6% respectively. Moreover, the simulations closely predicted the time-of-flight based velocities and the phase velocities of ultrasound with maximum relative errors of 20 m/s and 11 m/s respectively. The results of this study strongly suggest that micro-scale finite element modeling can effectively simulate broadband ultrasound propagation in water-saturated trabecular bone-mimicking structures. Copyright © 2016 Elsevier B.V. All rights reserved.

Multispectral measurement of contrast in tissue-mimicking phantoms in near-infrared spectral range of 650 to 1600 nm

PubMed Central

Salo, Daniel; Zhang, Hairong; Kim, David M.; Berezin, Mikhail Y.

2014-01-01

Abstract. In order to identify the optimal imaging conditions for the highest spatial contrast in biological tissue, we explored the properties of a tissue-mimicking phantom as a function of the wavelengths in a broad range of near-infrared spectra (650 to 1600 nm). Our customized multispectral hardware, which featured a scanning transmission microscope and imaging spectrographs equipped with silicon and InGaAs charge-coupled diode array detectors, allowed for direct comparison of the Michelson contrast obtained from a phantom composed of a honeycomb grid, Intralipid, and India ink. The measured contrast depended on the size of the grid, luminance, and the wavelength of measurements. We demonstrated that at low thickness of the phantom, a reasonable contrast of the objects can be achieved at any wavelength between 700 and 1400 nm and between 1500 and 1600 nm. At larger thicknesses, such contrast can be achieved mostly between 1200 and 1350 nm. These results suggest that distinguishing biological features in deep tissue and developing contrast agents for in vivo may benefit from imaging in this spectral range. PMID:25104414

Verruciform xanthoma of the penis: A rare benign lesion that simulates carcinoma.

PubMed

De Rose, Aldo Franco; Tosi, Mattia; Mantica, Guglielmo; Piol, Nataniele; Toncini, Carlo; Terrone, Carlo

2016-12-30

Verruciform xanthoma is a rare and benign condition predominantly affecting the oral cavity, but also skin and female anogenital mucosa. It can be flat, papular-warty or crateriform-cystic. Furthermore it can simulate HPV viral lesion such as condyloma and malignant neoplasia such as verrucous squamous cell carcinoma. An accurate diagnosis is important to avoid overtreatment, considering it is a benign lesion that does not require any radical treatment. We present an extremely rare case of a 64 year-old man with a small, slighty raised, gray reddish-dotted lesion on the left portion of the ventral side of his glans.

A Unique Fatal Moose Attack Mimicking Homicide.

PubMed

Gudmannsson, Petur; Berge, Johan; Druid, Henrik; Ericsson, Göran; Eriksson, Anders

2018-03-01

Fatalities caused by animal attacks are rare, but have the potential to mimic homicide. We present a case in which a moose attacked and killed a woman who was walking her dog in a forest. Autopsy showed widespread blunt trauma with a large laceration on one leg in which blades of grass were embedded. Flail chest was the cause of death. The case was initially conceived as homicide by means of a riding lawn mower. A review of the case by moose experts and analyses of biological trace material that proved to originate from moose, established the true source of injury. The dog probably provoked a moose, which, in response, stomped and gored the victim to death. The injuries resembled those previously reported from attacks by cattle and water buffalo. Fatal moose attacks constitute an extremely rare threat in boreal areas, but can be considered in traumatic deaths of unknown cause. © 2017 American Academy of Forensic Sciences.

Multiple rare variants in the etiology of autism spectrum disorders

PubMed Central

Buxbaum, Joseph D.

2009-01-01

Recent studies in autism spectrum disorders (ASDs) support an important role for multiple rare variants in these conditions. This is a clinically important finding, as, with the demonstration that a significant proportion of ASDs are the result of rare, etiological genetic variants, it becomes possible to make use of genetic testing to supplement behavioral analyses for an earlier diagnosis. As it appears that earlier interventions in ASDs will produce better outcomes, the development of genetic testing to augment behaviorally based evaluations in ASDs holds promise for improved treatment. Furthermore, these rare variants involve synaptic and neuronal genes that implicate specific paihvi/ays, cells, and subcellular compartments in ASDs, which in turn will suggest novel therapeutic approaches in ASDs, Of particular recent interest are the synaptic cell adhesion and associated molecules, including neurexin 1, neuroligin 3 and 4, and SHANK3, which implicate glutamatergic synapse abnormalities in ASDs, In the current review we will overview the evidence for a genetic etiology for ASDs, and summarize recent genetic findings in these disorders. PMID:19432386

Bilateral diaphyseal bone cysts of the tibia mimicking shin splints in a young professional athlete--a case report and depiction of a less-invasive surgical technique.

PubMed

Toepfer, Andreas; Harrasser, Norbert; Lenze, Ulrich; Liska, Franz; Mühlhofer, Heinrich; von Eisenhart-Rothe, Rüdiger; Banke, Ingo J

2015-08-23

Medial tibial stress syndrome is one of the most common causes of exertional leg pain in runners whereas musculoskeletal tumors and tumor-like lesions are rare encounters in orthopedic sports medicine practice. Unicameral (simple) bone cyst is a well-known tumor-like lesions of the bone typically affecting children and adolescents. Bilateral occurrence is very rare though and has never been reported before in both tibiae. Failing to accurately diagnose a tumorous lesion can entail far-reaching consequences for both patients and physicians. We report the case of large bilateral unicameral bone cysts of the diaphyseal tibiae mimicking medial tibial stress syndrome in a 17-year old professional athlete. This is the first report of symmetric tibial unicameral bone cysts in the literature. The patient complained about persisting shin splint-like symptoms over 5 months despite comprehensive conservative treatment before MRI revealed extensive osteolytic bone lesions in both diaphyseal tibiae. The patient-tailored, less-invasive surgical procedure, allowing the patient to return to his competitive sports level symptom-free 3 months after surgery and to eventually qualify for this years Biathlon Junior World Championships, is outlined briefly. Pathogenesis and various treatment options for this entity will be discussed. This report will help to raise awareness for musculoskeletal tumors as differential diagnosis for therapy-refractory symptoms in young athletes and encourage medical staff involved in sports medicine and athlete support to perform early high quality imaging and initiate sufficient surgical treatment in similar cases. Moreover, our less-invasive surgical procedure aiming for a fast return to sports might be an optimal compromise between traditional open curettage with low risk of recurrence and a soft tissue-saving and bone-sparing minimal-invasive technique.

Rare earth gas laser

DOEpatents

Krupke, W.F.

1975-10-31

A high energy gas laser with light output in the infrared or visible region of the spectrum is described. Laser action is obtained by generating vapors of rare earth halides, particularly neodymium iodide or, to a lesser extent, neodymium bromide, and disposing the rare earth vapor medium in a resonant cavity at elevated temperatures; e.g., approximately 1200/sup 0/ to 1400/sup 0/K. A particularly preferred gaseous medium is one involving a complex of aluminum chloride and neodymium chloride, which exhibits tremendously enhanced vapor pressure compared to the rare earth halides per se, and provides comparable increases in stored energy densities.

Exopolysaccharides enriched in rare sugars: bacterial sources, production, and applications.

PubMed

Roca, Christophe; Alves, Vitor D; Freitas, Filomena; Reis, Maria A M

2015-01-01

Microbial extracellular polysaccharides (EPS), produced by a wide range of bacteria, are high molecular weight biopolymers, presenting an extreme diversity in terms of chemical structure and composition. They may be used in many applications, depending on their chemical and physical properties. A rather unexplored aspect is the presence of rare sugars in the composition of some EPS. Rare sugars, such as rhamnose or fucose, may provide EPS with additional biological properties compared to those composed of more common sugar monomers. This review gives a brief overview of these specific EPS and their producing bacteria. Cultivation conditions are summarized, demonstrating their impact on the EPS composition, together with downstream processing. Finally, their use in different areas, including cosmetics, food products, pharmaceuticals, and biomedical applications, are discussed.

Exopolysaccharides enriched in rare sugars: bacterial sources, production, and applications

PubMed Central

Roca, Christophe; Alves, Vitor D.; Freitas, Filomena; Reis, Maria A. M.

2015-01-01

Microbial extracellular polysaccharides (EPS), produced by a wide range of bacteria, are high molecular weight biopolymers, presenting an extreme diversity in terms of chemical structure and composition. They may be used in many applications, depending on their chemical and physical properties. A rather unexplored aspect is the presence of rare sugars in the composition of some EPS. Rare sugars, such as rhamnose or fucose, may provide EPS with additional biological properties compared to those composed of more common sugar monomers. This review gives a brief overview of these specific EPS and their producing bacteria. Cultivation conditions are summarized, demonstrating their impact on the EPS composition, together with downstream processing. Finally, their use in different areas, including cosmetics, food products, pharmaceuticals, and biomedical applications, are discussed. PMID:25914689

Lung Metastases from Bile Duct Adenocarcinoma Mimicking Chronic Airway Infection and Causing Diagnostic Difficulty.

PubMed

Sato, Mitsuo; Okachi, Shotaro; Fukihara, Jun; Shimoyama, Yoshie; Wakahara, Keiko; Sakakibara, Toshihiro; Hase, Tetsunari; Onishi, Yasuharu; Ogura, Yasuhiro; Maeda, Osamu; Hasegawa, Yoshinori

2018-05-15

We herein report a case of lung metastases with unusual radiological appearances that mimicked those of chronic airway infection, causing diagnostic difficulty. A 60-year-old woman who underwent liver transplantation from a living donor was incidentally diagnosed with bile duct adenocarcinoma after a histopathological analysis of her explanted liver. Six months later, chest computed tomography (CT) revealed bilateral bronchogenic dissemination that had gradually worsened, suggesting chronic airway infection. A biopsy with bronchoscopy from a mass lesion beyond a segmental bronchus revealed adenocarcinoma identical to that of her bile duct adenocarcinoma, leading to the diagnosis of multiple lung metastases from bile duct adenocarcinoma.

A rare case of a 39 year old male with a parasite called Dioctophyma renale mimicking renal cancer at the computed tomography of the right kidney. A case report.

PubMed

Katafigiotis, Ioannis; Fragkiadis, Evangelos; Pournaras, Christos; Nonni, Afrodite; Stravodimos, Konstantinos G

2013-10-01

We present a very rare case of a 39 year old patient with Dioctophyma renale depicted as a Bosniak cyst IV of the right kidney who was finally subjected to a robotic assisted radical nephrectomy. © 2013 Elsevier Ireland Ltd. All rights reserved.

CEMARA: a Web dynamic application within a N-tier architecture for rare diseases.

PubMed

Messiaen, Claude; Le Mignot, Loïc; Rath, Ana; Richard, Jean-Baptiste; Dufour, Eric; Ben Said, Mohamed; Jais, Jean-Philippe; Verloes, Alain; Le Merrer, Martine; Bodemer, Christine; Baujat, Geneviève; Gerard-Blanluet, Marion; Bourdon-Lanoy, Eva; Salomon, Rémi; Ayme, Ségolène; Landais, Paul

2008-01-01

Rare diseases include a group of conditions characterized by a prevalence lower than 5 per 10,000 in the community. In France, any rare disease affects less than 30,000 patients and often much less. Three to 4% of children and 6% of the population in Europe are affected. It is a true public health stake since most diseases do not have any curative treatment. In France, the Ministry of Health has initiated a National Rare Diseases Plan. Twenty five out of 132 labelled Reference Centres (RC) decided to share a common Information System named CEMARA. It is dedicated to collect continuous and complete records of all patients presenting with a rare disease, and their follow-up. The main objective of CEMARA is to contribute to the missions of the RC regarding the registration and description of their activities, coordination of the network of their correspondents, organization of the follow-up of rare diseases, and analysis of the epidemiological patterns. A description of CEMARA is provided as well as its cooperation with Orphanet and Genatlas, and a presentation of 11803 current records collected by more than 300 health care professionals belonging to more than 70 sites.

Granulomatosis with polyangiitis mimicking infective endocarditis in an adolescent male.

PubMed

Varnier, Giulia Camilla; Sebire, Neil; Christov, Georgi; Eleftheriou, Despina; Brogan, Paul A

2016-09-01

Granulomatosis with polyangiitis (GPA) is a rare but serious small vessel vasculitis with heterogeneous clinical presentation ranging from mainly localised disease with a chronic course, to a florid, acute small vessel vasculitic form characterised by severe pulmonary haemorrhage and/or rapidly progressive vasculitis or other severe systemic vasculitic manifestations. Cardiac involvement is, however, uncommon in the paediatric population. We report a case of a 16-year-old male who presented with peripheral gangrene and vegetation with unusual location on the supporting apparatus of the tricuspid valve, initially considered to have infective endocarditis but ultimately diagnosed with GPA. We provide an overview of the limited literature relating to cardiac involvement in GPA, and the diagnostic challenge relating to infective endocarditis in this context, especially focusing on the interpretation of the antineutrophil cytoplasmic antibody (ANCA) and the characteristic clinical features to identify in order to promptly recognise GPA, since timely diagnosis and treatment are essential for this potentially life-threatening condition.

Selective Emitter Pumped Rare Earth Laser

NASA Technical Reports Server (NTRS)

Chubb, Donald L. (Inventor); Patton, Martin O. (Inventor)

2001-01-01

A selective emitter pumped rare earth laser provides an additional type of laser for use in many laser applications. Rare earth doped lasers exist which are pumped with flashtubes or laser diodes. The invention uses a rare earth emitter to transform thermal energy input to a spectral band matching the absorption band of a rare earth in the laser in order to produce lasing.

Length oscillation mimicking periodic individual deep inspirations during tidal breathing attenuates force recovery and adaptation in airway smooth muscle.

PubMed

Raqeeb, Abdul; Solomon, Dennis; Paré, Peter D; Seow, Chun Y

2010-11-01

Airway smooth muscle (ASM) is able to generate maximal force under static conditions, and this isometric force can be maintained over a large length range due to length adaptation. The increased force at short muscle length could lead to excessive narrowing of the airways. Prolonged exposure of ASM to submaximal stimuli also increases the muscle's ability to generate force in a process called force adaptation. To date, the effects of length and force adaptation have only been demonstrated under static conditions. In the mechanically dynamic environment of the lung, ASM is constantly subjected to periodic stretches by the parenchyma due to tidal breathing and deep inspiration. It is not known whether force recovery due to muscle adaptation to a static environment could occur in a dynamic environment. In this study the effect of length oscillation mimicking tidal breathing and deep inspiration was examined. Force recovery after a length change was attenuated in the presence of length oscillation, except at very short lengths. Force adaptation was abolished by length oscillation. We conclude that in a healthy lung (with intact airway-parenchymal tethering) where airways are not allowed to narrow excessively, large stretches (associated with deep inspiration) may prevent the ability of the muscle to generate maximal force that would occur under static conditions irrespective of changes in mean length; mechanical perturbation on ASM due to tidal breathing and deep inspiration, therefore, is the first line of defense against excessive bronchoconstriction that may result from static length and force adaptation.

Creating a global rare disease patient registry linked to a rare diseases biorepository database: Rare Disease-HUB (RD-HUB).

PubMed

Rubinstein, Yaffa R; Groft, Stephen C; Bartek, Ronald; Brown, Kyle; Christensen, Ronald A; Collier, Elaine; Farber, Amy; Farmer, Jennifer; Ferguson, John H; Forrest, Christopher B; Lockhart, Nicole C; McCurdy, Kate R; Moore, Helen; Pollen, Geraldine B; Richesson, Rachel; Miller, Vanessa Rangel; Hull, Sara; Vaught, Jim

2010-09-01

A movement to create a global patient registry for as many as 7,000 rare diseases was launched at a workshop, "Advancing Rare Disease Research: The Intersection of Patient Registries, Biospecimen Repositories, and Clinical Data." http://rarediseases.info.nih.gov/PATIENT_REGISTRIES_WORKSHOP/. The workshop was sponsored by the Office of Rare Diseases Research (ORDR). The focus was the building of an infrastructure for an internet-based global registry linking to biorepositories. Such a registry would serve the patients, investigators, and drug companies. To aid researchers the participants suggested the creation of a centralized database of biorepositories for rare biospecimens (RD-HUB)http://biospecimens.ordr.info.nih.gov/ that could be linked to the registry. Over two days of presentations and breakout sessions, several hundred attendees discussed government rules and regulations concerning privacy and patients' rights and the nature and scope of data to be entered into a central registry as well as concerns about how to validate patient and clinician-entered data to ensure data accuracy. Mechanisms for aggregating data from existing registries were also discussed. The attendees identified registry best practices, model coding systems, international systems for recruiting patients into clinical trials and novel ways of using the internet directly to invite participation in research. They also speculated about who would bear ultimate responsibility for the informatics in the registry and who would have access to the information. Hurdles associated with biospecimen collection and how to overcome them were detailed. The development of the recommendations was, in itself, an indication of the commitment of the rare disease community as never before. Published by Elsevier Inc.

Mimicking bug-like surface structures and their fluid transport produced by ultrashort laser pulse irradiation of steel

NASA Astrophysics Data System (ADS)

Kirner, S. V.; Hermens, U.; Mimidis, A.; Skoulas, E.; Florian, C.; Hischen, F.; Plamadeala, C.; Baumgartner, W.; Winands, K.; Mescheder, H.; Krüger, J.; Solis, J.; Siegel, J.; Stratakis, E.; Bonse, J.

2017-12-01

Ultrashort laser pulses with durations in the fs-to-ps range were used for large area surface processing of steel aimed at mimicking the morphology and extraordinary wetting behaviour of bark bugs (Aradidae) found in nature. The processing was performed by scanning the laser beam over the surface of polished flat sample surfaces. A systematic variation of the laser processing parameters (peak fluence and effective number of pulses per spot diameter) allowed the identification of different regimes associated with characteristic surface morphologies (laser-induced periodic surface structures, i.e., LIPSS, grooves, spikes, etc.). Moreover, different laser processing strategies, varying laser wavelength, pulse duration, angle of incidence, irradiation atmosphere, and repetition rates, allowed to achieve a range of morphologies that resemble specific structures found on bark bugs. For identifying the ideal combination of parameters for mimicking bug-like structures, the surfaces were inspected by scanning electron microscopy. In particular, tilted micrometre-sized spikes are the best match for the structure found on bark bugs. Complementary to the morphology study, the wetting behaviour of the surface structures for water and oil was examined in terms of philic/phobic nature and fluid transport. These results point out a route towards reproducing complex surface structures inspired by nature and their functional response in technologically relevant materials.

Design, synthesis and DNA interactions of a chimera between a platinum complex and an IHF mimicking peptide.

PubMed

Rao, Harita; Damian, Mariana S; Alshiekh, Alak; Elmroth, Sofi K C; Diederichsen, Ulf

2015-12-28

Conjugation of metal complexes with peptide scaffolds possessing high DNA binding affinity has shown to modulate their biological activities and to enhance their interaction with DNA. In this work, a platinum complex/peptide chimera was synthesized based on a model of the Integration Host Factor (IHF), an architectural protein possessing sequence specific DNA binding and bending abilities through its interaction with a minor groove. The model peptide consists of a cyclic unit resembling the minor grove binding subdomain of IHF, a positively charged lysine dendrimer for electrostatic interactions with the DNA phosphate backbone and a flexible glycine linker tethering the two units. A norvaline derived artificial amino acid was designed to contain a dimethylethylenediamine as a bidentate platinum chelating unit, and introduced into the IHF mimicking peptides. The interaction of the chimeric peptides with various DNA sequences was studied by utilizing the following experiments: thermal melting studies, agarose gel electrophoresis for plasmid DNA unwinding experiments, and native and denaturing gel electrophoresis to visualize non-covalent and covalent peptide-DNA adducts, respectively. By incorporation of the platinum metal center within the model peptide mimicking IHF we have attempted to improve its specificity and DNA targeting ability, particularly towards those sequences containing adjacent guanine residues.

Rare earth element and rare metal inventory of central Asia

USGS Publications Warehouse

Mihalasky, Mark J.; Tucker, Robert D.; Renaud, Karine; Verstraeten, Ingrid M.

2018-03-06

Rare earth elements (REE), with their unique physical and chemical properties, are an essential part of modern living. REE have enabled development and manufacture of high-performance materials, processes, and electronic technologies commonly used today in computing and communications, clean energy and transportation, medical treatment and health care, glass and ceramics, aerospace and defense, and metallurgy and chemical refining. Central Asia is an emerging REE and rare metals (RM) producing region. A newly compiled inventory of REE-RM-bearing mineral occurrences and delineation of areas-of-interest indicate this region may have considerable undiscovered resources.

Biorelevant media resistant co-culture model mimicking permeability of human intestine.

PubMed

Antoine, Delphine; Pellequer, Yann; Tempesta, Camille; Lorscheidt, Stefan; Kettel, Bernadette; Tamaddon, Lana; Jannin, Vincent; Demarne, Frédéric; Lamprecht, Alf; Béduneau, Arnaud

2015-03-15

Cell culture models are currently used to predict absorption pattern of new compounds and formulations in the human gastro-intestinal tract (GIT). One major drawback is the lack of relevant apical incubation fluids allowing mimicking luminal conditions in the GIT. Here, we suggest a culture model compatible with biorelevant media, namely Fasted State Simulated Intestinal Fluid (FaSSIF) and Fed State Simulated Intestinal Fluid (FeSSIF). Co-culture was set up from Caco-2 and mucus-secreting HT29-MTX cells using an original seeding procedure. Viability and cytotoxicity assays were performed following incubation of FeSSIF and FaSSIF with co-culture. Influence of biorelevant fluids on paracellular permeability or transporter proteins were also evaluated. Results were compared with Caco-2 and HT29-MTX monocultures. While Caco-2 viability was strongly affected with FeSSIF, no toxic effect was detected for the co-cultures in terms of viability and lactate dehydrogenase release. The addition of FeSSIF to the basolateral compartment of the co-culture induced cytotoxic effects which suggested the apical mucus barrier being cell protective. In contrast to FeSSIF, FaSSIF induced a slight increase of the paracellular transport and both tested media inhibited partially the P-gp-mediated efflux in the co-culture. Additionally, the absorptive transport of propranolol hydrochloride, a lipophilic β-blocker, was strongly affected by biorelevant fluids. This study demonstrated the compatibility of the Caco-2/HT29-MTX model with some of the current biorelevant media. Combining biorelevant intestinal fluids with features such as mucus secretion, adjustable paracellular and P-gp mediated transports, is a step forward to more realistic in-vitro models of the human intestine. Copyright © 2015. Published by Elsevier B.V.

[A CASE OF DEXTRANOMER-HYALURONIC ACID COPOLYMER (Deflux®) IMPLANTS CALCIFICATION MIMICKING DISTAL URETERAL CALCULI].

PubMed

Matsumoto, Fumi; Matsui, Futoshi; Yazawa, Koji; Shimada, Kenji

2017-01-01

Since 2011, endoscopic correction of vesicoureteral reflux using dextranomer-hyaluronic acid copolymer (Deflux ® ) has been widely accepted in Japan due to its safety and minimally invasive nature. However, long-term complications are unknown. We present a case of Deflux ® implants calcification mimicking distal ureteral calculi in a 12-year-old boy with a history of Deflux ® injection performed at three years of age for primary VUR. We should be aware of this complication to avoid misdiagnosis and unnecessary invasive examination such as radiological imaging or endoscopy.

DoEstRare: A statistical test to identify local enrichments in rare genomic variants associated with disease.

PubMed

Persyn, Elodie; Karakachoff, Matilde; Le Scouarnec, Solena; Le Clézio, Camille; Campion, Dominique; Consortium, French Exome; Schott, Jean-Jacques; Redon, Richard; Bellanger, Lise; Dina, Christian

2017-01-01

Next-generation sequencing technologies made it possible to assay the effect of rare variants on complex diseases. As an extension of the "common disease-common variant" paradigm, rare variant studies are necessary to get a more complete insight into the genetic architecture of human traits. Association studies of these rare variations show new challenges in terms of statistical analysis. Due to their low frequency, rare variants must be tested by groups. This approach is then hindered by the fact that an unknown proportion of the variants could be neutral. The risk level of a rare variation may be determined by its impact but also by its position in the protein sequence. More generally, the molecular mechanisms underlying the disease architecture may involve specific protein domains or inter-genic regulatory regions. While a large variety of methods are optimizing functionality weights for each single marker, few evaluate variant position differences between cases and controls. Here, we propose a test called DoEstRare, which aims to simultaneously detect clusters of disease risk variants and global allele frequency differences in genomic regions. This test estimates, for cases and controls, variant position densities in the genetic region by a kernel method, weighted by a function of allele frequencies. We compared DoEstRare with previously published strategies through simulation studies as well as re-analysis of real datasets. Based on simulation under various scenarios, DoEstRare was the sole to consistently show highest performance, in terms of type I error and power both when variants were clustered or not. DoEstRare was also applied to Brugada syndrome and early-onset Alzheimer's disease data and provided complementary results to other existing tests. DoEstRare, by integrating variant position information, gives new opportunities to explain disease susceptibility. DoEstRare is implemented in a user-friendly R package.

Acute respiratory distress syndrome mimickers lacking common risk factors of the Berlin definition.

PubMed

Gibelin, Aude; Parrot, Antoine; Maitre, Bernard; Brun-Buisson, Christian; Mekontso Dessap, Armand; Fartoukh, Muriel; de Prost, Nicolas

2016-02-01

Some patients presenting with acute respiratory failure and meeting the Berlin criteria for acute respiratory distress syndrome (ARDS) lack exposure to common risk factors (CRF). These so-called ARDS mimickers often lack histological diffuse alveolar damage. We aimed to describe such ARDS mimickers lacking CRF (ARDS CRF-) in comparison with others (ARDS CRF+). Retrospective study including all patients receiving invasive mechanical ventilation for ARDS admitted to the intensive care units (ICUs) of two tertiary care centers from January 2003 to December 2012. The prevalence of ARDS CRF- was 7.5 % (95 % CI [5.5-9.5]; n = 50/665). On the basis of medical history, bronchoalveolar lavage fluid cytology, and chest CT scan patterns, four etiological categories were identified: immune (n = 18; 36 %), drug-induced (n = 13; 26 %), malignant (n = 7; 14 %), and idiopathic (n = 12; 24 %). Although the ARDS CRF- patients had a lower logistic organ dysfunction score (4 [3-8] vs. 10 [6-13]; p < 0.0001) and less often shock upon ICU admission (44 vs. 80 %; p < 0.0001) than their counterparts, their overall ICU mortality rate was very high (66 % [46-74]), and the absence of CRF remained associated with ICU mortality by multivariable logistic regression analysis (adjusted OR = 2.06; 95 % CI [1.02-4.18]; p = 0.044). Among ARDS CRF- patients, the presence of potentially reversible lung lesions with corticosteroids (aOR = 0.14; 95 % CI [0.03-0.62]) was associated with ICU survival. The absence of CRF among patients with ARDS is common and associated with a higher risk of mortality. For such atypical ARDS, a complete diagnostic workup, including bronchoalveolar lavage fluid cytology and chest CT scan patterns, should be performed to identify those patients who might benefit from specific therapies, including corticosteroids.

Celiac Crisis: A Rare Or Rarely Recognized Disease.

PubMed

Waheed, Nadia; Cheema, Huma Arshad; Suleman, Hassan; Fayyaz, Zafar; Mushtaq, Iqra; Muhammad; Hashmi, Almas

2016-01-01

Celiac crisis is a serious life threatening complication of celiac disease characterized by profuse diarrhoea, severe dehydration and metabolic disturbances leading to neuromuscular weakness, cardiac arrhythmias and sudden death. It has been described as rare condition and not well documented in the literature. To improve awareness and facilitate diagnosis of this condition, we studied risk factors, pattern of presentation and management plans of celiac crisis. It was a descriptive cross sectional study. Patients presenting in emergency room(ER) with profuse diarrhoea leading to severe dehydration, neuromuscular weakness, and metabolic acidosis and electrolyte abnormalities enrolled in the studies after positive serology and small bowel biopsy suggestive of celiac disease. Total 126 patients out of 350 fulfilled the criteria including 54 (42.8%) male and 71 (56.3%) female. The mean age at presentation was 5.25±1.18 years. Risk factors were poor social status (97.60%), consanguinity (96.77%), early weaning with gluten contained diet (93.54%), and Presenting complaints were loose motion (100%), loss of neck holding (96.77%), dehydration (96.77%), polyuria (95.96%), inability to walk (67.74%), abdominal distension (85.86%). Electrolytes imbalances were hypokalaemia (2.4±0.55), hypocalcaemia (7.29±0.66), hypomagnesaemia (1.89±0.50), hypophosphatemia (2.8±0.68), hypoalbuminemia (3.05±0.48) and metabolic acidosis (96%). One hundred & twenty patients were stabilized with GFD and correction of dehydration, acidosis and electrolyte imbalance. Six patients needed parenteral steroids ant total parenteral nutrition (TPN). Recovery time from crisis was mean 5.4±2.73 days (range 3-20 days). Celiac crisis is a common but under recognized problem in developing countries. Commonest presenting feature is neuromuscular paralysis and biochemical abnormality is hypokalaemia.