Primary perivascular epithelioid cell tumor of the liver: new case report and literature review

PubMed Central

2014-01-01

Perivascular epithelioid cell tumors (PEComas) encompass a group of rare mesenchymal neoplasms, which typically have a perivascular location with dual melanocytic and muscular differentiation. They are found in a variety of localizations, though lesions in the liver are exceedingly rare. Because of their rarity, the clinical, radiological and histological features of these tumors have yet to be established. This is why, it seems appropriate to report the observation of this rare hepatic tumor with a literary review including others published cases, assessing through it, clinicopathologic and radiologic features of all reported cases as well as their follow-up whenever possible. Virtual Slides The virtual slide(s) for this article can be found here: http://www.diagnosticpathology.diagnomx.eu/vs/1967094999126169 PMID:25034830

Melorheostosis with bilateral involvement in a black African patient.

PubMed

Biaou, Olivier; Avimadje, Martin; Guira, Oumar; Adjagba, Alex; Zannou, Marcel; Hauzeur, Jean-Philippe

2004-01-01

Melorheostosis is a rare chronic bone disease of unknown etiology that often affects a single limb. Onset usually occurs in childhood or early adolescence. A flowing wax appearance along the surface of the bone and multiple areas of bone sclerosis produce a typical radiographic picture. We describe the first case reported in a black African, in whom an exceedingly rare feature was a bilateral distribution of the lesions.

Myxoid liposarcoma of the foot: a study of 8 cases.

PubMed

Bekers, Elise M; Song, Wangzhao; Suurmeijer, Albert J H; Bonenkamp, Johannes J; van der Geest, Ingrid C; Braam, Petra M; Ploegmakers, Marieke J M; Desar, Ingrid M E; Tops, Bastiaan B J; van Gorp, Joost M; Creytens, David H; Mentzel, Thomas; Flucke, Uta

2016-12-01

Myxoid liposarcoma is the only translocation-associated liposarcoma subtype. It classically originates in the deep soft tissues of the thigh. At distal sites of the extremities, this tumor is exceedingly rare. We present a series of 8 cases occurring in the foot/ankle. Two female and 6 male patients, aged between 32 and 77 years (mean, 54.3 years), were identified. Tumor size ranged from 1.1 to 10 cm (mean, 6.8 cm). Two lesions eroded bone. All tumors were treated by excision and 7 by (neo)adjuvant radiotherapy. R0 status was reached in 2 cases with 1 case followed by metastasis in the groin. All other cases were documented with R1 (n=2) or R2 (n=4) resection status. In 1 patient, the follow-up status was unknown. All other patients were alive 15-135 (mean, 55.8) months after initial diagnosis. We conclude that myxoid liposarcoma at acral sites are exceedingly rare, and in this series, prognosis was good irrespective of resection status. Clinicians and pathologists have to be aware because this sarcoma type shows a peculiar clinical behavior with high radio- and chemosensitivity and metastatic spread to extrapulmonary sites. Copyright © 2016 Elsevier Inc. All rights reserved.

Unusual Presentation of Unilateral Isolated Probable Lyme Optic Neuritis.

PubMed

Burakgazi, Ahmet Z; Henderson, Carl S

2016-01-01

Optic neuritis (ON) is one of the most common manifestations of central nervous system involvement caused by various etiologies. Lyme ON is an exceedingly rare ocular manifestation of Lyme disease (LD) and only a few cases have been published in the literature. Lyme ON is very rare but should be included in the differential diagnosis in unexplained cases, particularly in Lyme endemic areas. Careful and detailed examination and investigation are warranted to make the diagnosis. We report this case to increase awareness of clinicians to include Lyme disease in differential diagnosis of ON for unexplained cases of ON. Herein we present a unique case with a unilateral ON caused by LD along with pre- and posttreatment findings and literature review.

Intracranial aneurysm formation in siblings with pseudoxanthoma elasticum: case report.

PubMed

Defillo, A; Nussbaum, E S

2010-09-01

Although intracranial aneurysms have been associated with many hereditary collagen disorders, the incidence of brain aneurysms in pseudoxanthoma elasticum (PXE) appears to be exceedingly low and uncertain. We describing a rare case of a sisters with PXE who both developed intracranial aneurysms. This report supports the previously questioned hypothetical association between PXE and intracranial aneurysms.

Malignant rhabdoid tumor of the floor of mouth: first reported case in the oral cavity of an adult.

PubMed

Wetzel, Stephanie L; Kerpel, Stanley; Reich, Renee F; Freedman, Paul D

2015-06-01

Malignant rhabdoid tumors (MRTs) are exceedingly rare lesions. To our knowledge, only 2 cases have been reported in the oral cavity, with both examples occurring in infants. The current case is the third reported case of MRT of the oral cavity and the first reported case to occur in an adult at this location. The following report describes the clinical, histologic and immunohistochemical features of this tumor.

A case of coffee-ground emesis in an elderly patient

PubMed Central

De Palma, Giovanni D; Persico, Marcello; Forestieri, Pietro

2014-01-01

Key Clinical Message Black esophagus is an exceeding rare disorder with a multifactorial etiology. Clinical presentation is generally related to upper gastrointestinal bleeding. Diagnosis is based on endoscopic images. Overall mortality is largely related to the underlying medical condition. PMID:25356232

Multifocal hyperfunctioning thyroid carcinoma without metastases.

PubMed

Nishida, Akiko T; Hirano, Shigeru; Asato, Ryo; Tanaka, Shinzo; Kitani, Yoshiharu; Honda, Nobumitsu; Fujiki, Nobuya; Miyata, Kouji; Fukushima, Hideyuki; Ito, Juichi

2008-09-01

Hyperthyroidism due to thyroid carcinoma is rare, and most cases are caused by hyperfunctioning metastatic thyroid carcinoma rather than primary carcinoma. Among primary hyperfunctioning thyroid carcinoma, multifocal thyroid carcinoma is exceedingly rare, with the only one case being reported in the literature. Here, we describe the case of a 62-year-old woman with multifocal functioning thyroid carcinoma. Technetium-99m (99m Tc) scintigraphic imaging showed four hot areas in the thyroid gland. Histopathological examination of all four nodules revealed papillary carcinoma, corresponding to hot areas in the 99m Tc scintigram. DNA sequencing of the thyrotropin receptor (TSH-R) gene from all nodules revealed no mutation, indicating that activation of TSH-R was unlikely in the pathophysiogenesis of hyperfunctioning thyroid carcinoma in the present case.

[Diffuse large B-cell lymphoma with concomitant c-MYC and BCL6 gene rearrangements with primary skin involvement: A case report and a review of literature].

PubMed

Gabeeva, N G; Koroleva, D A; Belyaeva, A V; Chernova, N G; Kuzmina, L A; Sudarikov, A B; Obukhova, T N; Kovrigina, A M; Zvonkov, E E; Savchenko, V G

Double-hit lymphoma (DHL) is a rare aggressive B-cell lymphoma with concomitant c-MYC, BCL2 or BCL6 gene rearrangements, which is characterized by the high frequency of extranodal lesions and by resistance to chemotherapy. The median survival does not exceed 18 months in patients with this disease. The majority of DHL is represented by с-MYC/BCL2 cases. The combination of c-MYC/BCL6 occurs rarely (5-8%). The paper describes a case of DHL with concomitant c-MYC and BCL6 gene rearrangements, which mimics diffuse large B-cell lymphoma, leg-type.

Complete duplication of collecting system in a horseshoe kidney presenting with recurrent urinary tract infections: report of an exceedingly rare congenital anomaly and review of literature.

PubMed

Mirzazadeh, Majid; Richards, Kyle A

2011-01-01

We report the fifth case in the English literature of a horseshoe kidney with a complete ureteral duplication. Our case is unique in that the previous four cases occurred in the presence of a ureterocele, whereas our patient lacked this anomaly. Further, our patient was managed conservatively, whereas the previous four patients were managed with surgery.

Cushing disease in a toddler: not all obese children are just fat.

PubMed

Moriarty, Megan; Hoe, Francis

2009-08-01

Cushing disease is exceedingly rare in children, especially in those under the age of 2 years. This case report describes an 18-month-old female child who presented with morbid obesity, decreased linear growth, and reversal of developmental milestones. Her diagnosis was delayed; however, she was successfully treated by surgical excision of the microadenoma. This was followed by resolution of signs and symptoms of Cushing syndrome. Although the patient's hypertension resolved, linear growth improved and development began to progress, she is still developmentally delayed and now has hypopituitarism. Review of this case, as well as a handful of other cases of infantile Cushing disease in the literature, suggests that features such as hypertension and slowed linear growth, which are rare in nutritional causes of obesity in infants, can help identify this rare, but life-threatening, illness among an increasing number of overweight infants.

Brown tumors of the anterior skull base as the initial manifestation of true normocalcemic primary hyperparathyroidism: report of three cases and review of the literature.

PubMed

Khalatbari, Mahmoud Reza; Hamidi, Mehrdokht; Moharamzad, Yashar; Setayesh, Ali; Amirjamshidi, Abbas

2013-01-01

Brown tumor is a bone lesion secondary to hyperparathyroidism of various etiologies. Skeletal involvement in primary hyperparathyroidism secondary to parathyroid adenoma is very uncommon and brown tumor has become extremely a rare clinical entity. Hyperparathyroidism is usually associated with high levels of serum calcium. Brown tumor as the only and initial symptom of normocalcemic primary hyperparathyroidism is extremely rare. Moreover, involvement of the skull base and the orbit is exceedingly rare. The authors would report three cases of brown tumor of the anterior skull base that were associated with true normocalcemic primary hyperparathyroidism. Clinical manifestations, neuroimaging findings, pathological findings, diagnosis and treatment of the patients are discussed and the relevant literature is reviewed.

Unilateral frontosphenoidal craniosynostosis with achondroplasia: a case report.

PubMed

Hubbard, Bradley A; Gorski, Jerome L; Muzaffar, Arshad R

2011-09-01

Isolated, premature fusion of the frontosphenoidal suture is rare. This report describes an unusual combination of frontosphenoidal craniosynostosis and achondroplasia. Although craniosynostosis is known to occur in allelic conditions such as thanatophoric dysplasia, craniosynostosis in individuals with achondroplasia is exceedingly rare. Due to the distracting diagnosis of achondroplasia or inadequate knowledge of craniosynostosis, the abnormal head shape was initially treated by other physicians with helmet molding. Plastic surgery consultation was obtained at 2 years of age and surgical care was provided. An acceptable head shape was obtained, but the delay in appropriate evaluation was disconcerting. To our knowledge this is the first reported case of isolated frontosphenoidal craniosynostosis associated with achondroplasia.

Intradural Extramedullary Capillary Hemangioma in the Upper Cervical Spine: First Report.

PubMed

Bouali, Sofiene; Maatar, Nidhal; Bouhoula, Asma; Abderrahmen, Khansa; Kallel, Jalel; Jemel, Hafedh

2016-08-01

The occurrence of intradural extramedullary capillary hemangiomas is exceedingly rare. To date, only 39 cases of intradural extramedullary capillary hemangiomas have been reported in the English literature, and all of these cases have been described at the lumbar and thoracic spinal levels. To our knowledge, this report is the first case of capillary hemangiomas of the cervical spine in the literature. In general, this entity is misdiagnosed preoperatively as a neoplasm. A 29-year-old man presented with neck pain and progressive gait disturbance, and was diagnosed with an intradural extramedullary capillary hemangioma in the cervical region. Although rare, our case demonstrates that capillary hemangioma should be considered in the differential diagnosis of intradural extramedullary tumor of the cervical spine. Copyright © 2016 Elsevier Inc. All rights reserved.

Retroperitoneal Extraskeletal Osteosarcoma: Imaging Findings and Transarterial Chemoembolization

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

Zhang Huojun, E-mail: chyyzhj@hotmail.com; Yang Jijin, E-mail: yangjijin@live.com; Lu Jianping

2010-04-15

Extraskeletal osteosarcoma (EOS) is an uncommon and usually highly aggressive mesenchymal tumor. Retroperitoneal extraskeletal osteosarma (REOS) is exceedingly rare. Due to the rare nature of the disease, both the diagnosis and the management of REOS can be challenging. We present the clinical history, CT findings, angiographic manifestations, and use of transarterial chemoembolization for treatment in a case of REOS. To our knowledge, the angiographic features of and attempt at transarterial treatment of REOS have not been reported in the literature.

Perirenal perivascular epithelioid cell tumor (PEComa) coexisting with other malignancies: a case report.

PubMed

Danilewicz, Marian; Strzelczyk, Janusz M; Wagrowska-Danilewicz, Małgorzata

Perivascular epithelioid cell tumor (PEComa) is a very rare lesion and is described by the World Health Organization (WHO) as a mesenchymal tumor composed of histologically and immunohistochemically distinctive perivascular epithelioid cells. In this report we describe PEComa with perirenal manifestation, which is exceedingly rare and to our best knowledge up to now worldwide only three cases have been described. Despite the reports that most PEComas are benign, this tumor met criteria for malignancy and coexisted with mucinous gallbladder cancer and nonresectable pancreatic head tumor. We concluded that despite the rarity of perirenal PEComas, in cases with an unusual epithelioid histological pattern the diagnosis of PEComa should also be taken into consideration on the basis of the immunohistochemical study.

Complete Duplication of Collecting System in a Horseshoe Kidney Presenting with Recurrent Urinary Tract Infections: Report of an Exceedingly Rare Congenital Anomaly and Review of Literature

PubMed Central

Mirzazadeh, Majid; Richards, Kyle A.

2011-01-01

We report the fifth case in the English literature of a horseshoe kidney with a complete ureteral duplication. Our case is unique in that the previous four cases occurred in the presence of a ureterocele, whereas our patient lacked this anomaly. Further, our patient was managed conservatively, whereas the previous four patients were managed with surgery. PMID:22224073

Enlarging cystic lymphangioma of the mediastinum in an adult: is this a neoplastic lesion related to the recently discovered PIK3CA mutation?

PubMed

Tajima, Shogo; Takanashi, Yusuke; Koda, Kenji

2015-01-01

Cystic lymphangioma, a lymphatic system malformation, is usually observed in infants and children and is rarely found in adults. It most commonly occurs in the cervicofacial region, followed by the axilla. Mediastinal cystic lymphangioma is rare, accounting for 1.8% of all mediastinal cysts. Herein, we present an exceedingly rare adult case of mediastinal cystic lymphangioma that had increased in size over a 5-year period. Although fluid collection might be an alternative explanation for this increase in size, this lymphangioma might harbor a neoplastic nature related to the recently discovered PIK3CA mutation.

A duplication of the mouth associated with a dysontogenic cyst: a case report and discussion of theories of origin.

PubMed

Mews, Lorissa; Isaac, Andre; Leonard, Norma; Lacson, Atilano G; AlQudehy, Zeinab Ali; El-Hakim, Hamdy

2014-05-01

IMPORTANCE Diprosopus is a medical condition that refers to full or partial craniofacial duplication. A particular subset of this condition, duplication of the mouth, is an exceedingly rare condition, with 7 reported cases in the medical literature. The embryogenesis and mechanism of disease are not well understood. The objective of this report was to describe a case of partial facial duplication with a discussion of the previous literature, leading to a proposed theory of embryogenesis for this rare anomaly. OBSERVATIONS We present a rare case of duplication of the mouth associated with an intraoral dysontogenic cyst, which presented with upper airway obstruction. The diagnostic and management strategies are discussed, as well as the histopathological features and theories of embryogenesis. CONCLUSIONS AND RELEVANCE On the basis of our findings, we propose the mechanism of origin for duplication of the mouth to be duplication of the first branchial arch. This case offers a deeper understanding of the mechanism of this disease than previously reported. Additional basic science and clinical research is needed to corroborate this theory.

Uncommon case of symmetrical fibrous hyperplasia of the hard palate.

PubMed

Di Lorenzo, S; Milia, A; Corradino, B; Cordova, A

2010-02-01

The fibrous hyperplasia of the palate (fibroma) is a benign tumor which has its origin in the soft tissue and whose frequency is estimated to be 1.2% on adult subjects. Rarely the size exceeds the cm, but in these cases a complaint of increasing difficulty of mastication and swallowing appears. We describe the case of a young white woman affected with two peculiar symmetric lesions of the secondary hard palate, that could be the consequence of an abnormal answer to a chronic inflammatory stimulation.

Mycobacterium bovis infection in humans and cats in same household, Texas, USA, 2012

USDA-ARS?s Scientific Manuscript database

Mycobacterium bovis infection of cats is exceedingly rare in non-endemic regions for bovine tuberculosis. This case study describes the diagnosis and clinical management of pulmonary M. bovis infection in two indoor-housed cats and their association with at least one M. bovis-infected human in Texas...

Bayesian estimates of the incidence of rare cancers in Europe.

PubMed

Botta, Laura; Capocaccia, Riccardo; Trama, Annalisa; Herrmann, Christian; Salmerón, Diego; De Angelis, Roberta; Mallone, Sandra; Bidoli, Ettore; Marcos-Gragera, Rafael; Dudek-Godeau, Dorota; Gatta, Gemma; Cleries, Ramon

2018-04-21

The RARECAREnet project has updated the estimates of the burden of the 198 rare cancers in each European country. Suspecting that scant data could affect the reliability of statistical analysis, we employed a Bayesian approach to estimate the incidence of these cancers. We analyzed about 2,000,000 rare cancers diagnosed in 2000-2007 provided by 83 population-based cancer registries from 27 European countries. We considered European incidence rates (IRs), calculated over all the data available in RARECAREnet, as a valid a priori to merge with country-specific observed data. Therefore we provided (1) Bayesian estimates of IRs and the yearly numbers of cases of rare cancers in each country; (2) the expected time (T) in years needed to observe one new case; and (3) practical criteria to decide when to use the Bayesian approach. Bayesian and classical estimates did not differ much; substantial differences (>10%) ranged from 77 rare cancers in Iceland to 14 in England. The smaller the population the larger the number of rare cancers needing a Bayesian approach. Bayesian estimates were useful for cancers with fewer than 150 observed cases in a country during the study period; this occurred mostly when the population of the country is small. For the first time the Bayesian estimates of IRs and the yearly expected numbers of cases for each rare cancer in each individual European country were calculated. Moreover, the indicator T is useful to convey incidence estimates for exceptionally rare cancers and in small countries; it far exceeds the professional lifespan of a medical doctor. Copyright © 2018 Elsevier Ltd. All rights reserved.

Triceps Ruptures After Fluoroquinolone Antibiotics: A Report of 2 Cases.

PubMed

Shybut, Theodore B; Puckett, Ernest R

Rupture of the triceps brachii tendon is exceedingly rare, and surgical repair is generally indicated. Fluoroquinolone antibiotics have been implicated in tendon pathology, including tendon ruptures. Triceps rupture has not been previously reported in the setting of fluoroquinolone antibiotic therapy. We present 2 cases of triceps tendon rupture after treatment with fluoroquinolones. In both cases, triceps repair was performed with good outcomes. These cases highlight a risk of fluoroquinolone-induced tendinopathy to athletes. The sports medicine team should be aware of this risk and consider it when choosing antibiotics to treat athletes.

Primary pulmonary plasmacytoma with diffuse alveolar consolidation: a case report.

PubMed

Mohammad Taheri, Zohreh; Mohammadi, Forouzan; Karbasi, Mehrdad; Seyfollahi, Leila; Kahkoei, Shahram; Ghadiany, Mojtaba; Fayazi, Nader; Mansouri, Davood

2010-06-13

Solitary extramedullary plasmacytomas are plasma cell tumors that tend to develop in mucosa-associated lymphoid tissues including the sinonasal or nasopharyngeal regions. Primary plasmacytoma of the lung is exceedingly rare and often presents as a solitary mass or nodule in mid-lung or hilar areas and diagnosed after resection. Herein, we report a case of primary pulmonary plasmacytoma that presented with diffuse alveolar consolidation and diagnosed by transbronchial lung biopsy.

Primary Pulmonary Plasmacytoma with Diffuse Alveolar Consolidation: A Case Report

PubMed Central

Mohammad Taheri, Zohreh; Mohammadi, Forouzan; Karbasi, Mehrdad; Seyfollahi, Leila; Kahkoei, Shahram; Ghadiany, Mojtaba; Fayazi, Nader; Mansouri, Davood

2010-01-01

Solitary extramedullary plasmacytomas are plasma cell tumors that tend to develop in mucosa-associated lymphoid tissues including the sinonasal or nasopharyngeal regions. Primary plasmacytoma of the lung is exceedingly rare and often presents as a solitary mass or nodule in mid-lung or hilar areas and diagnosed after resection. Herein, we report a case of primary pulmonary plasmacytoma that presented with diffuse alveolar consolidation and diagnosed by transbronchial lung biopsy. PMID:21151727

Vertebral osteomyelitis with a rare etiology diagnosed by fine-needle aspiration cytology.

PubMed

B N, Nandeesh; Kini, Usha; Alexander, Betty

2010-05-01

Invasive fungal infections are rare in immunocompromised individuals, but are not uncommon in immunologically compromised patients. Bone involvement by these infections, though exceedingly rare, may occur due to direct extension of the infection from a neighboring organ or due to hematogenous dissemination in critically ill patients. Still rarer is the invasive aspergillosis involving either the vertebral body or the intervertebral disc with extension into the extradural space as an abscess. We report one such case of vertebral osteomyelitis due to Aspergillus diagnosed by FNAC in a well-controlled diabetic patient who presented with nonspecific symptoms and in whom a clinical and radiological diagnosis of Pott's spine was considered. The present case stresses the importance of early cytologic diagnosis of vertebral Aspergillus osteomyelitis, which in conjunction with appropriate timely medical and surgical treatment, offers good recovery without much sequelae or threat to life.

Multiple non-syndromic odontogenic keratocysts in three siblings

PubMed Central

Nirwan, Amit; Wanjari, Sangeeta Panjab; Saikhedkar, Rashmi; Karun, Vinayak

2013-01-01

Occurrence of multiple cysts (MC) involving the jaw is rare. When multiple, it is usually associated with a syndrome. Occurrence of MC without syndromic association is extremely rare. Multiple odontogenic cysts mostly could be odontogenic keratocysts or dentigerous cysts. Odontogenic keratocyst shows involvement of mandible over maxilla, with peak incidence in second and third decade and it is exceedingly rare before 10 years of age. However multiple odontogenic keratocysts found in children are often reflective of nevoid basal cell carcinoma syndrome. Here is a case report which documents multiple jaw cysts involving both the jaws, in three siblings of ages 10, 13 and 17 years with negative parental history. All three reported cases were free of any systemic involvement. As odontogenic keratocyst spreads through bone marrow, destruction is more before any clinical manifestation. Therefore, early detection and intervention are essential in preventing extensive destruction. PMID:23505078

Inverting papilloma of the sphenoid sinus: report of two cases.

PubMed

Nishio, S; Samoto, K; Takeshita, I; Matsumoto, K; Matsushima, T; Fukui, M

2001-03-01

Two patients with sphenoid sinus inverting papilloma who were treated either by transcranial or sublabial trans-septal approach are reported. Inverting papillomas arising from the sphenoid sinus are exceedingly rare. The clinical and neuro-imaging features, as well as surgical treatment, for sphenoid sinus tumours are also briefly discussed. Copyright 2001 Harcourt Publishers Ltd.

Predicting Item Difficulty of Science National Curriculum Tests: The Case of Key Stage 2 Assessments

ERIC Educational Resources Information Center

El Masri, Yasmine H.; Ferrara, Steve; Foltz, Peter W.; Baird, Jo-Anne

2017-01-01

Predicting item difficulty is highly important in education for both teachers and item writers. Despite identifying a large number of explanatory variables, predicting item difficulty remains a challenge in educational assessment with empirical attempts rarely exceeding 25% of variance explained. This paper analyses 216 science items of key stage…

Solitary fibrous tumor of the breast: A case report and the review of the literature.

PubMed

Salemis, Nikolaos S

2018-01-01

Solitary fibrous tumors (SFT) are rare mesenchymal neoplasms. They were first described as spindle-cell tumors originating from the pleura, but they may arise in any anatomical site. SFT of the breast is an exceedingly rare clinical entity. Our literature review yielded only 21 cases reported so far. We describe a case of a SFT of the breast in a premenopausal patient who presented with a gradually enlarging palpable breast mass. Diagnostic evaluation and management are discussed along with a review of the relevant literature. There are no pathognomonic imaging findings of SFT of the breast. Complete surgical resection with clear margins is the gold standard of treatment. Thorough immunohistochemical analysis is crucial to obtain a definitive diagnosis. Although most SFTs run an indolent course, in some cases the clinical behavior can be unpredictable and a long-term follow-up for all patients is therefore mandatory. © 2017 Wiley Periodicals, Inc.

Simultaneous Median and Ulnar Compression Neuropathy Secondary to a Giant Palmar Lipoma: A Case Report and Review of the Literature

PubMed Central

Unal, Melih; Demirayak, Engin; Acar, Baver

2018-01-01

Lipomas are benign tumors that rarely settle in the hand. They usually present with mass, pain, and nerve compression symptoms. Although isolated median or ulnar nerve compression neuropathy secondary to a lipoma of the hand has been widely reported, simultaneous median and ulnar nerve compression neuropathy are exceedingly rare and there are only three reported cases in the current literature to date. Herein, a case of a 50-year-old woman with a giant palmar lipoma that caused median and ulnar compression neuropathy is presented. The removal of the tumor resulted in the complete recovery of the patient’s symptoms. A deep-seated palmar lipoma should be kept in mind in patients with unilateral compression neuropathy symptoms with a palmar mass. PMID:29666776

A case of coexistence of TSH/GH-secreting pituitary tumor and papillary thyroid carcinoma: Challenges in pathogenesis and management.

PubMed

Kiatpanabhikul, Phatharaporn; Shuangshoti, Shanop; Chantra, Kraisri; Navicharern, Patpong; Kingpetch, Kanaungnit; Houngngam, Natnicha; Snabboon, Thiti

2017-07-01

Co-existence of thyrotropin/growth hormone-secreting pituitary adenoma with differentiated thyroid carcinoma is exceedingly rare, with less than 15 cases having been reported. Its clinical presentation and treatment strategy are challenging. We report a case of pituitary macroadenoma, with clinical syndromes of acromegaly and hyperthyroidism, and a thyroid nodule, with cytologically confirmed to be a papillary thyroid carcinoma. Clinical implications, focusing on the strategy for proper management, and possible pathogenesis were discussed. Copyright © 2017 Elsevier Ltd. All rights reserved.

Clinical features and treatment of vulvar Merkel cell carcinoma: a systematic review.

PubMed

Nguyen, Austin Huy; Tahseen, Ahmed I; Vaudreuil, Adam M; Caponetti, Gabriel C; Huerter, Christopher J

2017-01-01

Merkel cell carcinoma is a rare and aggressive neoplasm originating from mechanoreceptor Merkel cells of the stratum basale of the epidermis. Cases affecting the vulva are exceedingly rare, with the currently available literature primarily in case report form. Systematic review of the PubMed database returned 17 cases of Merkel cell carcinoma affecting the vulva. Patients presented at a mean age of 59.6 years with a firm, mobile vulvar mass. Symptoms of pain, erythema, pruritus, edema, and ulceration have been reported. Tumor histology is consistent with that of neuroendocrine tumors and typical Merkel cell carcinomas. Neuroendocrine and cytokeratin immunostains are frequently utilized in histopathological workup. Surgical management was the unanimous first-line therapy with adjuvant radiation in most cases. Recurrence occurred in 70.6% of patients at a mean follow-up of 6.3 months. Mortality was at 47.0% at a mean of 7.8 months after initial operation. Merkel cell carcinoma affecting the vulva is an extremely rare and highly aggressive neoplasm. The present review of published cases serves to comprehensively describe the clinical course and treatment approaches for vulvar Merkel cell carcinoma.

18F-FDG PET/CT Imaging of Hidradenocarcinoma Arising From Preexisting Hidradenoma of the Knee.

PubMed

Patel, Tirth V; Oldan, Jorge

2018-01-01

Malignant tumors of the sweat glands are exceedingly rare and aggressive tumors. We present here a case of a 60-year-old man with a malignant hidradenocarcinoma that developed in a background of preexisting benign hidradenoma on the lateral aspect of the knee that was initially resected, but rapidly recurred with associated inguinal lymphadenopathy. F-FDG PET/CT was performed as part of preoperative staging, which demonstrated abnormal inguinal lymph nodes and metastatic disease to the lungs. FDG PET/CT can play an invaluable role in the initial staging and follow-up of this rare malignancy.

Bayesian inference and assessment for rare-event bycatch in marine fisheries: a drift gillnet fishery case study.

PubMed

Martin, Summer L; Stohs, Stephen M; Moore, Jeffrey E

2015-03-01

Fisheries bycatch is a global threat to marine megafauna. Environmental laws require bycatch assessment for protected species, but this is difficult when bycatch is rare. Low bycatch rates, combined with low observer coverage, may lead to biased, imprecise estimates when using standard ratio estimators. Bayesian model-based approaches incorporate uncertainty, produce less volatile estimates, and enable probabilistic evaluation of estimates relative to management thresholds. Here, we demonstrate a pragmatic decision-making process that uses Bayesian model-based inferences to estimate the probability of exceeding management thresholds for bycatch in fisheries with < 100% observer coverage. Using the California drift gillnet fishery as a case study, we (1) model rates of rare-event bycatch and mortality using Bayesian Markov chain Monte Carlo estimation methods and 20 years of observer data; (2) predict unobserved counts of bycatch and mortality; (3) infer expected annual mortality; (4) determine probabilities of mortality exceeding regulatory thresholds; and (5) classify the fishery as having low, medium, or high bycatch impact using those probabilities. We focused on leatherback sea turtles (Dermochelys coriacea) and humpback whales (Megaptera novaeangliae). Candidate models included Poisson or zero-inflated Poisson likelihood, fishing effort, and a bycatch rate that varied with area, time, or regulatory regime. Regulatory regime had the strongest effect on leatherback bycatch, with the highest levels occurring prior to a regulatory change. Area had the strongest effect on humpback bycatch. Cumulative bycatch estimates for the 20-year period were 104-242 leatherbacks (52-153 deaths) and 6-50 humpbacks (0-21 deaths). The probability of exceeding a regulatory threshold under the U.S. Marine Mammal Protection Act (Potential Biological Removal, PBR) of 0.113 humpback deaths was 0.58, warranting a "medium bycatch impact" classification of the fishery. No PBR thresholds exist for leatherbacks, but the probability of exceeding an anticipated level of two deaths per year, stated as part of a U.S. Endangered Species Act assessment process, was 0.0007. The approach demonstrated here would allow managers to objectively and probabilistically classify fisheries with respect to bycatch impacts on species that have population-relevant mortality reference points, and declare with a stipulated level of certainty that bycatch did or did not exceed estimated upper bounds.

Small bowel obstruction due to phytobezoar formation within meckel diverticulum: CT findings

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

Frazzini, V.I. Jr.; English, W.J.; Bashist, B.

1996-05-01

Intestinal obstruction due to a phytobezoar within a Meckel diverticulum is exceedingly rare, with only seven reported cases in the surgical literature. The most important precipitating factor is the ingestion of agents high in fiber and cellulose. Small bowel obstruction in all but one case was due to retrograde propagation of the bezoar into the small bowel lumen. We report the clinical and CT findings in such a patient following a vegetarian diet. 14 refs., 2 figs.

Fulminant ischaemic colitis with atypical clinical features complicating sickle cell disease.

PubMed

Karim, Anita; Ahmed, S; Rossoff, Leonard J; Siddiqui, R; Fuchs, A; Multz, A S

2002-06-01

Clinically significant ischaemic bowel injury is an exceedingly rare complication of sickle cell disease. It manifests as acute surgical abdomen and may respond to conservative treatment. An unusual fatal case of ischaemic colitis with minimal abdominal findings in a young male during a sickle cell vaso-occlusive pain crisis is described. This case demonstrates that an acute surgical abdomen should be considered in such patients who fail to respond to conservative management as untreated this condition may be fatal.

Lymphoepithelioma-Like Carcinoma of the Breast Mimicking Granulomatous Mastitis- Case Report and Review of the Literature

PubMed

Abouelfad, Dalia M; Yassen, Noha N; Amin, Hebat Allah A; Shabana, Marwa E

2017-07-27

Lymphoepithelioma-like carcinoma (LELC) of the breast is an exceedingly rare variant of mammary cancer. To our knowledge, only twenty - one cases have been reported in the literature. Diagnosis of this type of mammary carcinoma may be challenging, owing to its rarity and the histopathological similarity to common inflammatory and malignant lesions of the breast mainly granulomatous mastitis, medullary carcinoma, pleomorphic lobular carcinoma, lymphoma and other hematological malignancies. Our case is the 22nd case of lymphoepithelioma-like carcinoma reported in the breast, presenting with a palpable tender mass in a post-menopausal female. Her clinical picture had been mistaken for inflammatory disease. We present our case, with its detailed clinical history, radiological findings, histopathological and immune-histochemical findings along with a review of the literature. Highlighting this type of tumors may help in appropriate diagnosis. Moreover, studying the behavior of these rare neoplasms is essential to expedite treatment for this tumor type. Creative Commons Attribution License

Clear cell renal cell carcinoma with osseous metaplasia: Rare case report.

PubMed

Agarwal, Swapnil; Bohara, Sangita; Jha, Ruchi; Khurana, Nita; Agarwal, P N

2015-01-01

Osseous metaplasia with clear cell renal cell carcinoma (RCC) is exceedingly rare. There are less than 20 reported cases of osseous metaplasia in association with RCC. We present a case of 39-year-old male patient presented to outpatient department with complaints of pain in the left lumbar region since 4 years. Computed tomography scan revealed a heterogeneous enhanced mass lesion having areas of necrosis and specks of calcification involving the left kidney. Clinicoradiological diagnosis of RCC was made and left radical nephrectomy was performed. Histological sections from the growth revealed features of clear cell carcinoma Fuhrman grade-2 with a focal area of metaplastic bone formation. The prognostic implications of calcification per se are not very clearly mentioned in the literature. Patients with osseous metaplasia generally present with early stage disease and a favorable prognosis. However, few of them were of high grade and poorer prognosis.

Severe hypertriglyceridemia at new onset type 1 diabetes mellitus.

PubMed

Fick, Tyler; Jack, Julie; Pyle-Eilola, Amy L; Henry, Rohan K

2017-08-28

Severe hypertriglyceridemia (HTG) as well as diabetic ketoacidosis (DKA) are complications of type 1 diabetes (T1DM). HTG is an exceedingly rare complication in the pediatric population and herein we report a case of HTG at new-onset T1DM in DKA and discuss management and potential complications. An 11-year-old previously well patient with a history of fatigue and weight loss presented with: glucose >600 mg/dL, venous blood gas: pH 7.26, pCO2 20 mmHg, PO2 101 mmHg and base deficit 13 with triglyceride level 3573 mg/dL. An insulin drip was continued past criteria for discontinuation to facilitate lipoprotein lipase-based triglyceride metabolism. Lipemia secondary to severe HTG, though exceedingly rare, may exist in new onset T1DM with DKA. Complicating the diagnosis is the possibility of an analytical error from lipemia causing incongruence in diagnostic criteria. Clinicians should rely on clinical criteria for management and should consider HTG if laboratory data is inconsistent with the clinical picture.

Juvenile psammomatoid ossifying fibroma of the neurocranium. Report of four cases.

PubMed

Hasselblatt, Martin; Jundt, Gernot; Greiner, Christoph; Rama, Burckhard; Schmäl, Frank; Iglesias-Rozas, José R; van de Nes, Johannes A P; Paulus, Werner

2005-06-01

Juvenile psammomatoid ossifying fibroma (JPOF) is a benign fibroosseous lesion predominantly arising within the paranasal sinuses in children and young adults. Neurocranial occurrence is exceedingly rare and a location within the neurocranial portion of the temporal bone has not been described. The authors report on one case of sinonasal JPOF secondarily extending into the cranial cavity and three cases primarily affecting the neurocranial bones to increase clinical awareness of this uncommon tumor, which may be easily mistaken for meningioma. Moreover, the absence of activating missense mutations of the GNAS1 gene in two cases strongly argues against a relationship between JPOF and fibrous dysplasia.

Rare Co-existence of Squamous Cell Carcinoma with Infiltration of Renal Vein and Xanthogranulomatous Pyelonephritis

PubMed Central

Vanikar, A.V.; Patel, R.D.; Nigam, L. K.; Trivedi, H. L.

2015-01-01

Primary renal squamous cell carcinoma is a very rare malignancy of the upper urinary tract. Most patients have history of chronic urolithiasis, analgesics abuse, radiotherapy or infection. Co-existence of SCC with xanthogranulomatous pyelonephritis is exceedingly rare with only few reports in the literature. We report a case of a 60-year-old male presented with right flank pain and mild tenderness of abdomen. Computed tomography of the abdomen revealed gross hydronephrosis with parenchymal thinning and irregular thick enhancing wall of pelvicalyceal system with multiple calculi in right kidney. Right renal vein appeared distended, filled with hypo dense material. Right nephrectomy was performed and sent for pathological examination. Histological evaluation revealed keratinizing squamous cell carcinoma with infiltration of renal vein and xanthogranulomatous pyelonephritis. PMID:26816904

Takayasu Arteritis of the Coronary Arteries Presenting as Sudden Death in a White Teenager.

PubMed

Hlavaty, Leigh; Diaz, Francisco; Sung, LokMan

2015-09-01

Takayasu arteritis is a rare disease that expresses chronic, large vessel inflammation. The etiology remains unclear and its presentation depends on the affected arteries. With coronary artery involvement, manifestations range from chest pain and shortness of breath to sudden death. We report a case of a 15-year-old white girl who presented with syncope immediately before passing. On autopsy, all 3 major coronary arteries grossly contained multiple proximal lesions that were consistent with Takayasu arteritis, microscopically. Takayasu arteritis solely affecting multiple coronary arteries is exceedingly rare. This report discusses the significance of coronary involvement in Takayasu arteritis at autopsy and sudden death.

Pancreatic Extraskeletal Osteosarcoma Metastasizing to the Scalp.

PubMed

Kim, Young Jae; Kim, Hak Tae; Won, Chong Hyun; Chang, Sung Eun; Lee, Mi Woo; Choi, Jee Ho; Lee, Woo Jin

2018-06-01

Extraskeletal osteosarcoma (ESOS) is a rare mesenchymal soft-tissue neoplasm that accounts for approximately 1% of all soft-tissue sarcomas. Over 70% of these malignant tumor progress to local recurrence and metastasis. It commonly metastasizes to the lungs, lymph nodes, bone, and skin and has a poor survival outcome. Cutaneous metastasis is exceedingly rare and known to be a sign of widespread metastases. We present a 57-year-old woman who presented with a rapidly growing protuberant mass on the scalp that was finally diagnosed as metastatic ESOS from a primary pancreatic ESOS. To our knowledge, there has been no reported case of pancreatic ESOS metastasizing to the scalp.

Fugo blade-assisted lens aspiration in a case of intra- and retro-lenticular hemorrhage.

PubMed

Khokhar, Sudarshan; Ganguly, Anasua; Gupta, Shikha; Sen, Seema

2013-02-01

Hemorrhage into the crystalline lens is exceedingly rare but has been described following ocular trauma [1, 2], glaucoma surgery [3-5], laser iridotomy [6], pediatric cataract surgery [7], and also in the absence of an obvious pathology [8]. We describe a case of intra- and retro-lenticular organised bleed which presented 9 years following repair of open globe injury and which was treated using fugo blade-assisted lens aspiration. The fugo blade provided adequate endocoagulation of retrolenticular blood during posterior capsulotomy and prevented undue anterior segment hemorrhage.

Cutaneous and uterine leiomyomatosis and ovarian cystadenoma associated with deficiency of fumarate hydratase

PubMed Central

Hüller, Cornelia; Grunow, Norbert; Nadler, Torsten; Bär, Michael

2011-01-01

We report on an exceedingly rare case of cutaneous and uterine leiomyomatosis in a 58-year-old Caucasian woman associated with ovarian cystadenoma and complete deletion of the fumarate hydratase gene. All patients and their family members with verified mutation have to be regularly screened for associated neoplasms, in particular papillary renal cell carcinoma (HLRCC, hereditary leiomyomatosis and renal cell cancer). PMID:24396716

Granular cell tumour of the neurohypophysis: an unusual cause of hypopituitarism.

PubMed

Bello, Carlos Tavares; Cipriano, Patricia; Henriques, Vanessa; Duarte, João Sequeira; Marques, Conceição Canas

2018-01-01

Granular cell tumours (GCT) are rare, slow-growing, benign neoplasms that are usually located in the head and neck. They are more frequent in the female gender and typically have an asymptomatic clinical course, being diagnosed only at autopsy. Symptomatic GCT of the neurohypophysis are exceedingly rare, being less than 70 cases described so far. The authors report on a case of a 28-year-old male that presented to the Endocrinology clinic with clinical and biochemical evidence of hypogonadism. He also reported minor headaches without any major visual symptoms. Further laboratory tests confirmed hypopituitarism (hypogonadotrophic hypogonadism, central hypothyroidism and hypocortisolism) and central nervous system imaging revealed a pituitary macroadenoma. The patient underwent transcranial pituitary adenoma resection and the pathology report described a GCT of the neurohypophysis with low mitotic index. The reported case is noteworthy for the rarity of the clinicopathological entity. Symptomatic GCTs are rare CNS tumours whose cell of origin is not well defined that usually give rise to visual symptoms, headache and endocrine dysfunction.Imaging is quite unspecific and diagnosis is difficult to establish preoperatively.Surgical excision is challenging due to lesion's high vascularity and propensity to adhere to adjacent structures.The reported case is noteworthy for the rarity of the clinicopathological entity.

Intraepidermal Merkel cell carcinoma: A case series of a rare entity with clinical follow up.

PubMed

Jour, George; Aung, Phyu P; Rozas-Muñoz, Eduardo; Curry, Johnathan L; Prieto, Victor; Ivan, Doina

2017-08-01

Merkel cell carcinoma (MCC) is a rare but aggressive cutaneous carcinoma. MCC typically involves dermis and although epidermotropism has been reported, MCC strictly intraepidermal or in situ (MCCIS) is exceedingly rare. Most of the cases of MCCIS described so far have other associated lesions, such as squamous or basal cell carcinoma, actinic keratosis and so on. Herein, we describe 3 patients with MCC strictly in situ, without a dermal component. Our patients were elderly. 2 of the lesions involved the head and neck area and 1 was on a finger. All tumors were strictly intraepidermal in the diagnostic biopsies, and had histomorphologic features and an immunohistochemical profile supporting the diagnosis of MCC. Excisional biopsies were performed in 2 cases and failed to reveal dermal involvement by MCC or other associated malignancies. Our findings raise the awareness that MCC strictly in situ does exist and it should be included in the differential diagnosis of Paget's or extramammary Paget's disease, pagetoid squamous cell carcinoma, melanoma and other neoplasms that typically show histologically pagetoid extension of neoplastic cells. Considering the limited number of cases reported to date, the diagnosis of isolated MCCIS should not warrant a change in management from the typical MCC. © 2017 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

Cardiac left ventricular thrombus in protein C deficiency.

PubMed

Sabzi, Feridoun; Faraji, Reza

2014-07-01

We report an exceptional case of, 33-year-old woman presenting with, dyspnoea and chest pain, Cardio respiratory sign and symptom related to diastolic dysfunction caused by mass effect of thrombosis on diastolic filling of left ventricule (LV). The common aetiologies of these devastating complication results in thrombophillia diagnosis, and echocardioghraphy showed a large mass in left ventricular cavity. In laboratory exam, protein C-S deficiency was confirmed however, others related test of thrombophillia were negative. The patient underwent cardiopulmonary bypass with thrombosis extraction and her sign and symptom, recovered uneventfully. This case report illustrates an exceedingly rare case of thrombophilia-induced left ventricular clot formation.

A Rare Case of Giant Basal Cell Carcinoma of the Abdominal Wall: Excision and Immediate Reconstruction with a Pedicled Deep Inferior Epigastric Artery Perforator (DIEP) Flap

PubMed Central

Di Lorenzo, Sara; Zabbia, Giovanni; Corradino, Bartolo; Tripoli, Massimiliano; Pirrello, Roberto; Cordova, Adriana

2017-01-01

Patient: Female, 82 Final Diagnosis: Giant basal cell carcinoma Symptoms: Anemia Medication: — Clinical Procedure: — Specialty: Plastic Surgery Objective: Rare disease Background: Basal cell carcinoma (BCC) greater than 5 cm in diameter is called giant basal cell carcinoma (GBCC), or super giant basal cell carcinoma if it has a diameter larger than 20 cm. Giant BCC only accounts for 0.5% of BCCs and super giant BCC is exceedingly rare. On account of their rarity, there are no established guidelines for GBCC treatment. Case Report: We describe a peculiar case of an 82-year-old woman with a GBCC carcinoma of the lower abdominal wall. The tumor was surgically removed with ipsilateral inguinal lymph nodes and the abdominal wall was reconstructed immediately with a pedicled deep inferior epigastric artery perforator (DIEP) flap. Conclusions: Treatment of giant basal cell carcinoma is often difficult, especially in elderly patients with poor general health and multiple pathologies. The pedicled DIEP flap is rotated to cover the loss of substance without tension, and it is easy to harvest and transfer. This flap allowed a good result without local or systemic complication. We present this report as a reminder of the occasional occurrence of extremely aggressive BCCs. We believe that, especially for rare tumors like these, it is very useful for the entire scientific community to publish these cases and the therapeutic strategies used to treat them. PMID:29199268

Congenital absence of dermatoglyphs.

PubMed

Límová, M; Blacker, K L; LeBoit, P E

1993-08-01

Congenital absence or unusual patterns of human dermatoglyphs (fingerprints) occur in several syndromes that are rare and poorly understood. The abnormalities of dermatoglyphs fall into four categories: complete absence, ridge hypoplasia, ridge dissociation, and ridges-off-the-end. Complete congenital absence of ridges is an exceedingly rare syndrome that consists of neonatal blisters and milia, adult traumatic blistering and fissuring, absence of sweating, contracture of digits, and absence of dermatoglyphs on the hands and feet. The syndrome is inherited in an autosomal dominant pattern, and only two kindreds have been described in the literature. We describe a newly identified patient and kindred with findings similar to the previously reported cases and review the clinical and histopathologic findings of this syndrome.

Primary extraskeletal myxoid chondrosarcoma in cerebellum: A case report with literature review.

PubMed

Qin, You; Zhang, Hai-Bo; Ke, Chang-Shu; Huang, Jing; Wu, Bian; Wan, Chao; Yang, Chen-Su; Yang, Kun-Yu

2017-11-01

Extraskeletal myxoid chondrosarcoma (EMC) is a rare malignant neoplasm of which intracranial EMC is the rarest. We present an unusual case report of a 41-year-old woman who was sent to the emergency department for a sudden headache and other symptoms related to increased intracranial pressure. Emergent CT revealed an occupying lesion in the left cerebellum with surrounding edema. A complete surgical excision of the lesion through a transcortical approach was performed. After the operation, this patient received adjuvant radiotherapy and temozolomide treatment. Pathology diagnosis was an intracranial EMC. The patient survives with no tumor recurrence as of the last follow-up. Progression-free survival exceeded 20 months. We have reviewed the literature and here summarize the diagnosis and treatment options for intracranial EMC. Diagnosis and treatment options of this rare disease are discussed. Copyright © 2017 The Authors. Published by Wolters Kluwer Health, Inc. All rights reserved.

Protracted fever of unknown origin as the presenting symptom of Behçet's disease. Report of a case.

PubMed

Niamane, Radouane; Karim Moudden, Mohamed; Zyani, Mahamed; Hda, Ali

2005-03-01

We report a case of Behçet's disease that presented as protracted fever of unknown origin. The diagnosis was established when a thromboembolic event and ora3l aphthous ulcers occurred simultaneously. Antibiotics had no effect on the fever, which resolved when glucocorticoid and anticoagulant therapy was given. Among causes of protracted fever of unknown origin, Behçet's disease is exceedingly rare but should be considered together with the other vasculitides. Above all, the presence of a fever should prompt a search for a thromboembolic complication.

Gastric GIST with synchronous neuroendocrine tumour of the pancreas in a patient without neurofibromatosis type 1

PubMed Central

Tavares, Amelia Brandao; Viveiros, Fernando Arruda; Cidade, Cassilda Neves; Maciel, Jorge

2012-01-01

The gastrointestinal stromal tumours (GISTs) are the most common mesenchymal tumours of the gastrointestinal tract. These are rare tumours with an incidence of 15 new cases per million per year. The occurrence of neuroendocrine tumours of the pancreas is rare, representing 1–5% of pancreatic cancers, and it is estimated that its incidence does not exceed five to one million. GISTs are common in patients with neurofibromatosis type 1 (NF1); there are few reported cases of synchronous neuroendocrine tumours in these patients and most are pheochromocytomas. The case reports a 64-year-old woman referred to the General Surgery Outpatient for incidental finding of gastric and pancreatic tumours. She underwent a radical subtotal pancreatectomy + partial gastrectomy with jejunal transposition. The pathological examination revealed: gastric GISTs and a well-differentiated neuroendocrine carcinoma of the pancreas. This is the second case published so far of a patient with both tumours  and without NF1. Posterior studies must be performed to evaluate if some other genetic disorder is involved in these patients without NF1. PMID:22675144

Idiopathic Intracranial Hypertension in Monozygotic Female Twins: Intracranial Pressure Dynamics and Treatment Outcome.

PubMed

Polemikos, Manolis; Heissler, Hans E; Hermann, Elvis J; Krauss, Joachim K

2017-05-01

Familial cases of idiopathic intracranial hypertension (IIH) are exceedingly rare, and its occurrence in monozygotic twins has not been reported previously. We report monozygotic female twins who developed IIH, one at age 25 years and the other at age 28 years. Continuous intracranial pressure (ICP) monitoring confirmed elevated ICP as measured initially by lumbar puncture. In both cases, successful treatment with resolution of papilledema and symptoms relief was achieved after ventriculoperitoneal shunting. This report documents the first case of IIH in monozygotic twins and the associated changes in ICP dynamics. Interestingly, almost equivalent alterations in ICP dynamics were found in the 2 patients. Copyright © 2017 Elsevier Inc. All rights reserved.

[Increased revenues from secondary diagnoses : A comparison from dermatology, ophthalmology, and infectious diseases].

PubMed

Blaschke, V; Brauns, B; Khaladj, N; Schmidt, C; Emmert, S

2018-02-27

Hospital revenues generated by diagnosis-related groups (DRGs) are in part dependent on the coding of secondary diagnoses. Therefore, more and more hospitals trust specialized coders with this task, thereby relieving doctors from time-consuming administrative burdens and establishing a highly professionalized coding environment. However, it is vastly unknown if the revenues generated by the coders do indeed exceed their incurred costs. Coding data from the departments of dermatology, ophthalmology, and infectious diseases from Rostock University Hospital from 2007-2016 were analyzed for the effects of secondary diagnoses on the resulting DRG, i. e., hospital charges. Ophthalmological case were highly resistant to the addition of secondary diagnoses. In contrast, adding secondary diagnoses to cases from infectious diseases resulted in 15% higher revenues. Although dermatological and infectious cases share the same sensitivity to secondary diagnoses, higher revenues could only rarely be realized in dermatology, probably owing to a younger, less multimorbid patient population. Except for ophthalmology, trusting specialized coders with clinical coding generates additional revenues through the coding of secondary diagnoses which exceed the costs for employing these coders.

A Rare Case of Giant Basal Cell Carcinoma of the Abdominal Wall: Excision and Immediate Reconstruction with a Pedicled Deep Inferior Epigastric Artery Perforator (DIEP) Flap.

PubMed

Di Lorenzo, Sara; Zabbia, Giovanni; Corradino, Bartolo; Tripoli, Massimiliano; Pirrello, Roberto; Cordova, Adriana

2017-12-04

BACKGROUND Basal cell carcinoma (BCC) greater than 5 cm in diameter is called giant basal cell carcinoma (GBCC), or super giant basal cell carcinoma if it has a diameter larger than 20 cm. Giant BCC only accounts for 0.5% of BCCs and super giant BCC is exceedingly rare. On account of their rarity, there are no established guidelines for GBCC treatment. CASE REPORT We describe a peculiar case of an 82-year-old woman with a GBCC carcinoma of the lower abdominal wall. The tumor was surgically removed with ipsilateral inguinal lymph nodes and the abdominal wall was reconstructed immediately with a pedicled deep inferior epigastric artery perforator (DIEP) flap. CONCLUSIONS Treatment of giant basal cell carcinoma is often difficult, especially in elderly patients with poor general health and multiple pathologies. The pedicled DIEP flap is rotated to cover the loss of substance without tension, and it is easy to harvest and transfer. This flap allowed a good result without local or systemic complication. We present this report as a reminder of the occasional occurrence of extremely aggressive BCCs. We believe that, especially for rare tumors like these, it is very useful for the entire scientific community to publish these cases and the therapeutic strategies used to treat them.

A unique tripartite collision tumor of the esophagus

PubMed Central

Schizas, Dimitrios; Michalinos, Adamantios; Alexandrou, Paraskevi; Moris, Demetrios; Baliou, Evangelia; Tsilimigras, Diamantis; Throupis, Theodore; Liakakos, Theodore

2017-01-01

Abstract Rationale: We report a unique case of a tripartite esophageal collision tumor consisting of three separate histologic types. Patients concerns: Therapeutic dilemmas on the proper treatment of those rare neoplasms remain unanswered considering both proper surgical therapy and adjuvant therapy. Diagnose: In this paper, we report a unique case of a patient with a tripartite esophageal collision tumor consisting of a small cell carcinoma, an adenocarcinoma of medium differentiation and a signet ring cell carcinoma. Diagnosis is difficult as clinical presentation of the patient was undistinguishable from other, commoner tumor types. Interventions: The patient's diagnostic and therapeutic course along with available data on the collisions tumor's biological behavior and treatment are briefly discussed. Outcomes: Esophagectomy is the best treatment options for these patients. Unique nature of this tumor demands aggresive oncologic treatment. Lessons: Collision tumors are rare neoplasms consisting of distinct cell populations developing in juxtaposition to one another without any areas of intermingling. Various cell types can be found. However, collision neoplasms of the esophagus combining adenomatous and neuroendocrine components are exceedingly rare, with only 5 cases described to date in the literature. Given their rarity, limited information is available on their tumorigenesis, biological behavior and clinical course. In general, these tumors are aggressive neoplasms and significantly affect patient treatment and prognosis. PMID:29245236

Achondroplasia with multiple-suture craniosynostosis: a report of a new case of this rare association.

PubMed

Bessenyei, Beáta; Nagy, Andrea; Balogh, Erzsébet; Novák, László; Bognár, László; Knegt, Alida C; Oláh, Eva

2013-10-01

We report on a female patient with an exceedingly rare combination of achondroplasia and multiple-suture craniosynostosis. Besides the specific features of achondroplasia, synostosis of the metopic, coronal, lambdoid, and squamosal sutures was found. Series of neurosurgical interventions were carried out, principally for acrocephaly and posterior plagiocephaly. The most common achondroplasia mutation, a p.Gly380Arg in the fibroblast growth factor receptor 3 (FGFR3) gene, was detected. Cytogenetic and array CGH analyses, as well as molecular genetic testing of FGFR1, 2, 3 and TWIST1 genes failed to identify any additional genetic alteration. It is suggested that this unusual phenotype is a result of variable expressivity of the common achondroplasia mutation. Copyright © 2013 Wiley Periodicals, Inc.

A young man presenting with paralysis after vigorous exercise.

PubMed

Gubran, Christopher; Narain, Rajay; Malik, Luqmaan; Saeed, Saad Aldeen

2012-08-27

Thyrotoxic periodic paralysis (TPP) is a rare metabolic disorder characterised by muscular weakness and paralysis in predisposed thyrotoxic patients. Although patients with TPP are almost uniformly men of Asian descent, cases have been reported in Caucasian and other ethnic populations. The rapid increase in ethnic diversity in Western and European nations has led to increase in TPP reports, where it was once considered exceedingly rare. Correcting the hypokalaemic and hyperthyroid state tends to reverse the paralysis. However, failure to recognise the condition may lead to delay in diagnosis and serious consequences including respiratory failure and death. We describe a young man who was diagnosed with hyperthyroidism who presented with acute paralysis. The clinical characteristics, pathophysiology and management of TTP are reviewed.

Transarterial Embolization of a Spontaneous Intraorbital Arteriovenous Fistula With n-BCA Glue.

PubMed

Konstas, Angelos A; Rootman, Daniel B; Quiros, Peter A; Ross, Ian B

Arteriovenous fistulae of the orbit are exceedingly rare. They are high-flow vascular malformations involving a fistula from the ophthalmic artery to one of the draining ophthalmic veins. Presenting symptoms can mimic those of carotid cavernous fistulae or of ophthalmic venous varices, and include diplopia, proptosis, chemosis, decreased visual acuity, and retro-orbital pain. Very few case reports are published on the treatment of this aggressive vascular malformation, and they uniformly describe techniques involving a transvenous access for the embolization of the fistula. To the best of authors' knowledge, they report the first case of transarterial embolization of an intraorbital AVF.

Helioid inclusions in dedifferentiated acinic cell carcinoma of the parotid gland.

PubMed

Nunes, J F; Fonseca, I; Soares, J

1996-01-01

Helioid bodies are exceedingly rare, intranuclear, rounded inclusions with peripheral radiating filaments. These structures, which were formerly observed in only three cases of proliferative breast epithelial lesions, appeared in 0.5-1% of the neoplastic cells of a case of dedifferentiated acinic cell carcinoma of the parotid gland. Helioid bodies are related to rough endoplasmic reticulum cisternae, which suggests that they are the result of the condensation and partial crystallization of their contents when sequestrated into the nuclear compartment of the cell. The presence of helioid bodies may be related to secretory dysfunction of the tumor cells associated with the process of neoplastic dedifferentiation.

Palatine tonsillar metastasis of a small pulmonary adenocarcinoma showing an invasive micropapillary carcinoma pattern and Pagetoid spread at the tonsil: a case suggesting retrograde lymphatic metastasis from bulky lymph node metastases of the neck.

PubMed

Tajima, Shogo; Koda, Kenji

2015-01-01

Metastasis rarely occurs in the palatine tonsils. Among primary pulmonary carcinoma subtypes, small cell carcinoma more frequently metastasizes to this site. Herein, we present an exceedingly rare case of a small pulmonary adenocarcinoma that metastasized to the cervical lymph nodes and the right palatine tonsil in a 62-year-old man. In spite of the small size of the primary site, such extensive metastasis may have occurred because of the invasive micropapillary carcinoma pattern seen in the metastatic sites. The manner of metastasis to the palatine tonsil was considered retrograde lymphatic metastasis originating from carcinoma cells in the cervical lymph nodes. Furthermore, Pagetoid spread was observed at the palatine tonsil. Although there have been only a few cases showing retrograde lymphatic metastasis and Pagetoid spread at the metastatic site, we should be careful when speculating about the primary site based on such metastatic sites, especially when dealing with a biopsy sample exhibiting Pagetoid spread.

[About a case of uterine per-partum rupture, 37months after resection of a rectovaginal endometriosis nodule].

PubMed

Delépine, O; Curinier, S; Agar, N; Piquier-Perret, G; Gallot, D; Houlle, C; Canis, M; Pouly, J-L

2016-10-01

Endometriosis is a common condition in women, whose main repercussions are painful symptoms. In addition, it was shown that endometriosis was a major cause of infertility and various obstetric complications could be related to this pathology. Uterine rupture is a rare but serious complication whose incidence tends to decrease with the screening of women at risk, however, its fetal, maternal morbidity and mortality causes remains important. We were confronted with a case of posterior uterine rupture in a patient of 36 years, primipare term exceeded in immediate postpartum period. The patient's primary antecedent of uterine surgery torus was responsible for infertility endometriosis. The outcome was favorable for the mother, after a surgical treatment by laparotomy, and for the child. In the literature, two cases have been reported of uterine rupture after endometriosis surgery, which is why we found it interesting to report this rare case. Given the increase in surgical management of this disease, it seems relevant to ask whether, in the future, we should be more vigilant in monitoring pregnancy for these women. Copyright © 2016 Elsevier Masson SAS. All rights reserved.

Fournier's Gangrene due to Masturbation in an Otherwise Healthy Male.

PubMed

Heiner, Jason D; Eng, Katisha D; Bialowas, Todd A; Devita, Diane

2012-01-01

Fournier's gangrene is a rare and often fulminant necrotizing fasciitis of the perineum and genital region frequently due to a synergistic polymicrobial infection. This truly emergent condition is typically seen in elderly, diabetic, or otherwise immune-compromised individuals. Here, we report an unusual case of Fournier's gangrene due to excessive masturbation in an otherwise healthy 29-year-old male who presented to the emergency department complaining of two days of fever, vomiting, and diffuse myalgias. Upon further questioning, he also endorsed severe scrotal pain and swelling and frequent masturbation with soap as a lubricant resulting in recurrent penile erythema and minor skin abrasions. Examination of the patient's perineum was consistent with Fournier's gangrene and included significant erythema, edema, and calor of the penis and scrotum with a large malodorous eschar. He was given intravenous antibiotics and immunoglobulin and promptly underwent three surgical debridements of the scrotum and penis with split-thickness skin grafting. Complications from excessive masturbation are exceedingly rare, but as this case illustrates, they can be life threatening.

Fournier's Gangrene due to Masturbation in an Otherwise Healthy Male

PubMed Central

Heiner, Jason D.; Eng, Katisha D.; Bialowas, Todd A.; Devita, Diane

2012-01-01

Fournier's gangrene is a rare and often fulminant necrotizing fasciitis of the perineum and genital region frequently due to a synergistic polymicrobial infection. This truly emergent condition is typically seen in elderly, diabetic, or otherwise immune-compromised individuals. Here, we report an unusual case of Fournier's gangrene due to excessive masturbation in an otherwise healthy 29-year-old male who presented to the emergency department complaining of two days of fever, vomiting, and diffuse myalgias. Upon further questioning, he also endorsed severe scrotal pain and swelling and frequent masturbation with soap as a lubricant resulting in recurrent penile erythema and minor skin abrasions. Examination of the patient's perineum was consistent with Fournier's gangrene and included significant erythema, edema, and calor of the penis and scrotum with a large malodorous eschar. He was given intravenous antibiotics and immunoglobulin and promptly underwent three surgical debridements of the scrotum and penis with split-thickness skin grafting. Complications from excessive masturbation are exceedingly rare, but as this case illustrates, they can be life threatening. PMID:23326701

40 CFR 421.276 - Pretreatment standards for new sources.

Code of Federal Regulations, 2014 CFR

2014-07-01

... GUIDELINES AND STANDARDS NONFERROUS METALS MANUFACTURING POINT SOURCE CATEGORY Primary Rare Earth Metals... wastewater pollutants in primary rare earth metals process wastewater introduced into a POTW shall not exceed the following values: (a) Dryer vent water quench and scrubber. PSNS for the Primary Rare Earth Metals...

40 CFR 421.276 - Pretreatment standards for new sources.

Code of Federal Regulations, 2011 CFR

2011-07-01

... GUIDELINES AND STANDARDS NONFERROUS METALS MANUFACTURING POINT SOURCE CATEGORY Primary Rare Earth Metals... wastewater pollutants in primary rare earth metals process wastewater introduced into a POTW shall not exceed the following values: (a) Dryer vent water quench and scrubber. PSNS for the Primary Rare Earth Metals...

40 CFR 421.276 - Pretreatment standards for new sources.

Code of Federal Regulations, 2013 CFR

2013-07-01

... GUIDELINES AND STANDARDS NONFERROUS METALS MANUFACTURING POINT SOURCE CATEGORY Primary Rare Earth Metals... wastewater pollutants in primary rare earth metals process wastewater introduced into a POTW shall not exceed the following values: (a) Dryer vent water quench and scrubber. PSNS for the Primary Rare Earth Metals...

40 CFR 421.276 - Pretreatment standards for new sources.

Code of Federal Regulations, 2010 CFR

2010-07-01

... GUIDELINES AND STANDARDS NONFERROUS METALS MANUFACTURING POINT SOURCE CATEGORY Primary Rare Earth Metals... wastewater pollutants in primary rare earth metals process wastewater introduced into a POTW shall not exceed the following values: (a) Dryer vent water quench and scrubber. PSNS for the Primary Rare Earth Metals...

40 CFR 421.276 - Pretreatment standards for new sources.

Code of Federal Regulations, 2012 CFR

2012-07-01

... GUIDELINES AND STANDARDS NONFERROUS METALS MANUFACTURING POINT SOURCE CATEGORY Primary Rare Earth Metals... wastewater pollutants in primary rare earth metals process wastewater introduced into a POTW shall not exceed the following values: (a) Dryer vent water quench and scrubber. PSNS for the Primary Rare Earth Metals...

Ultrasound-guided fine-needle aspiration of a posterior neck dedifferentiated liposarcoma with MDM2 fluorescence in situ hybridization performed on a Pap-stained smear.

PubMed

Zreik, Riyam; Soyalp, Krystal; Ruiz, Steve; Ward, Russell; Dobin, Sheila; Chen, Xiangbai; Liu, Lina; Rao, Arundhati

2015-04-01

Head and neck liposarcomas, while rare, tend to be subcutaneous and well-differentiated. Dedifferentiated liposarcomas of the head and neck are exceedingly rare in the literature. We present a case of a dedifferentiated liposarcoma arising in the soft tissue of the posterior neck of an 86-year-old man and diagnosed by fine-needle aspiration. Aspirate smears showed a dual population of atypical lipomatous and spindled cells. MDM2 (murine double minute 2) amplification was demonstrated on a Pap-stained smear using fluorescence in situ hybridization (FISH). To the best of our knowledge, this is the first report of MDM2 FISH amplification in a liposarcoma performed on an aspirate smear. © 2014 Wiley Periodicals, Inc.

Retroperitoneal Angiomatoid Fibrous Histiocytoma Presenting as a Recurrent Spontaneous Retroperitoneal Hemorrhage in a 9-Year-Old Boy.

PubMed

Slack, Jonathan C; Sanchez-Glanville, Carlos; Steele, MacGregor; Wong, Andrew L; Bründler, Marie-Anne

2018-05-01

Angiomatoid fibrous histiocytoma (AFH) is a rare soft tissue tumor that typically presents in children and young adults. Occurrence outside of the extremities and the head and neck region is exceedingly rare. We report the case of a 9-year-old boy who presented with recurrent retroperitoneal hemorrhage initially thought to be a manifestation of an underlying bleeding disorder. After comprehensive diagnostic work-up, including multiple negative biopsies, the patient underwent surgical resection of an extensively hemorrhagic intramuscular mass and to date remains well. Pathologic examination confirmed AFH with EWSR1 gene rearrangement. This first documented report of an AFH in a retroperitoneal location in a child highlights the diagnostic difficulties and clinical challenges of AFH arising in an atypical location.

Large-scale analyses of common and rare variants identify 12 new loci associated with atrial fibrillation

PubMed Central

Christophersen, Ingrid E.; Rienstra, Michiel; Roselli, Carolina; Yin, Xiaoyan; Geelhoed, Bastiaan; Barnard, John; Lin, Honghuang; Arking, Dan E.; Smith, Albert V.; Albert, Christine M.; Chaffin, Mark; Tucker, Nathan R.; Li, Molong; Klarin, Derek; Bihlmeyer, Nathan A; Low, Siew-Kee; Weeke, Peter E.; Müller-Nurasyid, Martina; Smith, J. Gustav; Brody, Jennifer A.; Niemeijer, Maartje N.; Dörr, Marcus; Trompet, Stella; Huffman, Jennifer; Gustafsson, Stefan; Schurman, Claudia; Kleber, Marcus E.; Lyytikäinen, Leo-Pekka; Seppälä, Ilkka; Malik, Rainer; Horimoto, Andrea R. V. R.; Perez, Marco; Sinisalo, Juha; Aeschbacher, Stefanie; Thériault, Sébastien; Yao, Jie; Radmanesh, Farid; Weiss, Stefan; Teumer, Alexander; Choi, Seung Hoan; Weng, Lu-Chen; Clauss, Sebastian; Deo, Rajat; Rader, Daniel J.; Shah, Svati; Sun, Albert; Hopewell, Jemma C.; Debette, Stephanie; Chauhan, Ganesh; Yang, Qiong; Worrall, Bradford B.; Paré, Guillaume; Kamatani, Yoichiro; Hagemeijer, Yanick P.; Verweij, Niek; Siland, Joylene E.; Kubo, Michiaki; Smith, Jonathan D.; Van Wagoner, David R.; Bis, Joshua C.; Perz, Siegfried; Psaty, Bruce M.; Ridker, Paul M.; Magnani, Jared W.; Harris, Tamara B.; Launer, Lenore J.; Shoemaker, M. Benjamin; Padmanabhan, Sandosh; Haessler, Jeffrey; Bartz, Traci M.; Waldenberger, Melanie; Lichtner, Peter; Arendt, Marina; Krieger, Jose E.; Kähönen, Mika; Risch, Lorenz; Mansur, Alfredo J.; Peters, Annette; Smith, Blair H.; Lind, Lars; Scott, Stuart A.; Lu, Yingchang; Bottinger, Erwin B.; Hernesniemi, Jussi; Lindgren, Cecilia M.; Wong, Jorge; Huang, Jie; Eskola, Markku; Morris, Andrew P.; Ford, Ian; Reiner, Alex P.; Delgado, Graciela; Chen, Lin Y.; Chen, Yii-Der Ida; Sandhu, Roopinder K.; Li, Man; Boerwinkle, Eric; Eisele, Lewin; Lannfelt, Lars; Rost, Natalia; Anderson, Christopher D.; Taylor, Kent D.; Campbell, Archie; Magnusson, Patrik K.; Porteous, David; Hocking, Lynne J.; Vlachopoulou, Efthymia; Pedersen, Nancy L.; Nikus, Kjell; Orho-Melander, Marju; Hamsten, Anders; Heeringa, Jan; Denny, Joshua C.; Kriebel, Jennifer; Darbar, Dawood; Newton-Cheh, Christopher; Shaffer, Christian; Macfarlane, Peter W.; Heilmann, Stefanie; Almgren, Peter; Huang, Paul L.; Sotoodehnia, Nona; Soliman, Elsayed Z.; Uitterlinden, Andre G.; Hofman, Albert; Franco, Oscar H.; Völker, Uwe; Jöckel, Karl-Heinz; Sinner, Moritz F.; Lin, Henry J.; Guo, Xiuqing; Dichgans, Martin; Ingelsson, Erik; Kooperberg, Charles; Melander, Olle; Loos, Ruth J. F.; Laurikka, Jari; Conen, David; Rosand, Jonathan; van der Harst, Pim; Lokki, Marja-Liisa; Kathiresan, Sekar; Pereira, Alexandre; Jukema, J. Wouter; Hayward, Caroline; Rotter, Jerome I.; März, Winfried; Lehtimäki, Terho; Stricker, Bruno H.; Chung, Mina K.; Felix, Stephan B.; Gudnason, Vilmundur; Alonso, Alvaro; Roden, Dan M.; Kääb, Stefan; Chasman, Daniel I.; Heckbert, Susan R.; Benjamin, Emelia J.; Tanaka, Toshihiro; Lunetta, Kathryn L.; Lubitz, Steven A.; Ellinor, Patrick T.

2017-01-01

Atrial fibrillation affects more than 33 million people worldwide and increases the risk of stroke, heart failure, and death.1,2 Fourteen genetic loci have been associated with atrial fibrillation in European and Asian ancestry groups.3–7 To further define the genetic basis of atrial fibrillation, we performed large-scale, multi-racial meta-analyses of common and rare variant association studies. The genome-wide association studies (GWAS) included 18,398 individuals with atrial fibrillation and 91,536 referents; the exome-wide association studies (ExWAS) and rare variant association studies (RVAS) involved 22,806 cases and 132,612 referents. We identified 12 novel genetic loci that exceeded genome-wide significance, implicating genes involved in cardiac electrical and structural remodeling. Our results nearly double the number of known genetic loci for atrial fibrillation, provide insights into the molecular basis of atrial fibrillation, and may facilitate new potential targets for drug discovery.8 PMID:28416818

[An investigation of ionizing radiation dose in a manufacturing enterprise of ion-absorbing type rare earth ore].

PubMed

Zhang, W F; Tang, S H; Tan, Q; Liu, Y M

2016-08-20

Objective: To investigate radioactive source term dose monitoring and estimation results in a manufacturing enterprise of ion-absorbing type rare earth ore and the possible ionizing radiation dose received by its workers. Methods: Ionizing radiation monitoring data of the posts in the control area and supervised area of workplace were collected, and the annual average effective dose directly estimated or estimated using formulas was evaluated and analyzed. Results: In the control area and supervised area of the workplace for this rare earth ore, α surface contamination activity had a maximum value of 0.35 Bq/cm 2 and a minimum value of 0.01 Bq/cm 2 ; β radioactive surface contamination activity had a maximum value of 18.8 Bq/cm 2 and a minimum value of 0.22 Bq/cm 2 . In 14 monitoring points in the workplace, the maximum value of the annual average effective dose of occupational exposure was 1.641 mSv/a, which did not exceed the authorized limit for workers (5 mSv/a) , but exceeded the authorized limit for general personnel (0.25 mSv/a) . The radionuclide specific activity of ionic mixed rare earth oxides was determined to be 0.9. Conclusion: The annual average effective dose of occupational exposure in this enterprise does not exceed the authorized limit for workers, but it exceeds the authorized limit for general personnel. We should pay attention to the focus of the radiation process, especially for public works radiation.

Urinary urge seizure semiology localization by intracranial monitoring.

PubMed

Rengarajan, Ronak; Shamim, Sadat

2018-01-01

Seizures may present with many different symptom complexes. Seizure semiologies have localization value when contemplating surgical therapies. Epilepsy presenting as a desire to micturate is exceedingly rare, with only a handful of published cases. We present a patient who had initially unexplained childhood urinary urge that progressed into lapses of memory and confusion that was eventually diagnosed as epilepsy in adulthood. Due to refractoriness to medical management, our patient's epileptic focus was localized through both noninvasive and invasive subdural electrode arrays to the nondominant medial temporal lobe and successfully treated with an amygdalohippocampectomy. Only one other case of ictal urinary urgency seizures has been recorded with intracranial electroencephalogram monitoring in the literature.

Urinary urge seizure semiology localization by intracranial monitoring

PubMed Central

Rengarajan, Ronak; Shamim, Sadat

2018-01-01

ABSTRACT Seizures may present with many different symptom complexes. Seizure semiologies have localization value when contemplating surgical therapies. Epilepsy presenting as a desire to micturate is exceedingly rare, with only a handful of published cases. We present a patient who had initially unexplained childhood urinary urge that progressed into lapses of memory and confusion that was eventually diagnosed as epilepsy in adulthood. Due to refractoriness to medical management, our patient's epileptic focus was localized through both noninvasive and invasive subdural electrode arrays to the nondominant medial temporal lobe and successfully treated with an amygdalohippocampectomy. Only one other case of ictal urinary urgency seizures has been recorded with intracranial electroencephalogram monitoring in the literature. PMID:29686574

Simultaneous aortic and tricuspid valve rupture after fall injury

PubMed Central

Sabzi, Feridoun; Niazi, Mojtaba; Ahmadi, Alireza

2013-01-01

Abstract: This case study concerns a patient with disruption of both tricuspid and aortic valves: a previously healthy, adult man, who sustained a 5-meter fall from a building under construction. The mechanism of the injury was acceleration and deceleration, acting in two different phases of the cardiac cycle, i.e. systole and diastole. Simultaneous occurrence of these injuries is exceedingly rare and in a careful literature review, we did not find any such combination of injury. The possible mechanisms of this injury, as well as surgical techniques are discussed. PMID:23511124

Simultaneous aortic and tricuspid valve rupture after fall injury.

PubMed

Sabzi, Feridoun; Niazi, Mojtaba; Ahmadi, Alireza

2013-07-01

This case study concerns a patient with disruption of both tricuspid and aortic valves: a previously healthy, adult man, who sustained a 5-meter fall from a building under construction. The mechanism of the injury was acceleration and deceleration, acting in two different phases of the cardiac cycle, i.e. systole and diastole. Simultaneous occurrence of these injuries is exceedingly rare and in a careful literature review, we did not find any such combination of injury. The possible mechanisms of this injury, as well as surgical techniques are discussed.

Diagnostic Approaches to Metastatic Hepatocellular Carcinoma of the Orbit.

PubMed

Geske, Michael J; Bloomer, Michele M; Kersten, Robert C; Vagefi, M Reza

Orbital metastasis of hepatocellular carcinoma is exceedingly rare and caries a grave prognosis. Three cases of metastatic orbital hepatocellular carcinoma in which the primary tumor was initially unknown and the diagnostic challenges encountered are presented. With hepatocellular carcinoma, open biopsy and palliative tumor debulking has an increased bleeding risk due to the highly vascular nature of the tumor and coagulopathy associated with chronic liver disease. As an alternative, fine needle aspiration biopsy should be considered for hepatocellular carcinoma with a readily accessible mass and the availability of an experienced cytopathologist.

Radiculopathy in the setting of lumbar nerve root compression due to an extradural intraforaminal lipoma: a report of 3 cases.

PubMed

Loriaux, Daniel B; Adogwa, Owoicho; Gottfried, Oren N

2015-07-01

A true adult spinal lipoma is an exceedingly rare cause of lumbar compression neuropathy. Only 5 cases of true extradural intraforaminal lipomas have been documented in the medical literature. The diagnostic criteria and treatment guidelines for this specific lipoma have yet to be established. This report features 3 histologically confirmed cases of extradural intraforaminal spinal lipomas that recently presented to the authors' practice. In addition, the literature was surveyed to include the 5 previously reported cases of true adult extradural intraforaminal spinal lipomas. The consistency in presentation, response to surgical intervention, and postoperative recovery in these 8 cases supports surgical intervention at the time of diagnosis. The authors' findings support elevated clinical suspicion, efficient diagnosis based on MRI, and early surgical intervention for this rare pathological entity. All cases presented in this report were symptomatic and occurred in the absence of other significant pathologies such as general spinal epidural lipomatosis, intradural lesions, tethering, or severe degenerative stenosis or herniated discs. The clinical, neuroradiological, and histological findings characteristic of a true adult extradural intraforaminal lipoma are emphasized to differentiate this lesion from the more common etiologies for lumbar compression neuropathy. Heightened awareness and clinical suspicion for the focal, foraminal spinal lipoma as a cause of radiculopathy symptoms will enable more efficient diagnosis and treatment.

Resected Hepatocellular Carcinoma in a Patient with Crohn's Disease on Azathioprine

PubMed Central

Heron, Valérie; Fortinsky, Kyle Joshua; Spiegle, Gillian; Hilzenrat, Nir; Szilagyi, Andrew

2016-01-01

Hepatocellular carcinoma rarely occurs in patients without underlying cirrhosis or liver disease. While inflammatory bowel disease has been linked to certain forms of liver disease, hepatocellular carcinoma is exceedingly rare in these patients. We report the twelfth case of hepatocellular carcinoma in a patient with Crohn's disease. The patient is a 61-year-old with longstanding Crohn's disease who was treated with azathioprine and was found to have elevated liver enzymes and a new 3-cm liver mass on ultrasound. A complete workup for underlying liver disease was unremarkable and liver biopsy revealed hepatocellular carcinoma. The patient underwent a hepatic resection, and there is no evidence of recurrence at the 11-month follow-up. The resection specimen showed no evidence of cancer despite the initial biopsy revealing hepatocellular carcinoma. This case represents the third biopsy-proven complete spontaneous regression of hepatocellular carcinoma. Although large studies have failed to show a definite link between azathioprine and hepatocellular carcinoma, the relationship remains concerning given the multiple case reports suggesting a possible association. Clinicians should exercise a high degree of suspicion in patients with Crohn's disease who present with elevated liver enzymes, especially those on azathioprine therapy. PMID:27403102

Carcinosarcoma of the Pancreas: Case Report With Comprehensive Literature Review.

PubMed

Ruess, Dietrich A; Kayser, Claudia; Neubauer, Jakob; Fichtner-Feigl, Stefan; Hopt, Ulrich T; Wittel, Uwe A

2017-10-01

Carcinosarcomas are rare biphasic neoplasms with distinct malignant epithelial and mesenchymal components. Most commonly, carcinosarcomas arise in the uterus as malignant mixed müllerian tumors, but also infrequently appear in other organs such as the ovaries and breast, the prostate and urinary tract, the lungs, or in the gastrointestinal system, among others. Pancreatic carcinosarcomas are exceedingly rare; only a few cases are reported in the English literature. Their pathogenesis remains to be fully clarified. We present here the case of a pancreatic carcinosarcoma with evidence for monoclonality via determination of Kras mutational status after microdissection and suggest a common origin of the 2 tumor components. Comprehensive review of the available literature allows the conclusion that most pancreatic carcinosarcomas appear to be of monoclonal origin and seem to have arisen from a carcinoma via metaplastic transformation of 1 part or subclone of the tumor, probably by epithelial-mesenchymal transition. All reported patients were treated with surgery. Adjuvant therapy, if administered, consisted predominantly of gemcitabine. Prognosis for this neoplasm occurs to be similar or even worse compared with classic pancreatic ductal adenocarcinoma. Despite the lack of evidence-based recommendations for its treatment, resection should be performed, if possible.

Diabetes mellitus in a patient with glycogen storage disease type Ia: a case report.

PubMed

Cohn, Aviva; Ohri, Anupam

2017-11-12

Glycogen storage disease type Ia is a genetic disorder that is associated with persistent fasting hypoglycemia and the inability to produce endogenous glucose. The development of diabetes with glycogen storage disease is exceedingly rare. The underlying pathogenesis for developing diabetes in these patients is unclear, and there are no guidelines for treatment. We describe a case of a 34-year-old woman of South Asian descent with glycogen storage disease type Ia, who developed uncontrolled diabetes mellitus as a young adult. Hyperglycemia was noted after childbirth, and worsened years later. Treatment for diabetes was difficult due to risks of hypoglycemia from her underlying glycogen storage disease. With minimal hypoglycemic events, the patient's blood glucose improved with exercise in combination with a sodium-glucose co-transporter 2 inhibitor and an alpha glucosidase inhibitor. We report a rare case of diabetes in the setting of glycogen storage disease-Ia. Based on the literature, there appears to be a relationship between glycogen storage disease and metabolic syndrome, which likely plays a role in the pathogenesis. The management of glycemic control remains a clinical challenge, requiring management of both fasting hypoglycemia from glycogen storage disease, as well as post-prandial hyperglycemia from diabetes mellitus.

Low shear stress gravel-bed river

USGS Publications Warehouse

Milhous, Robert T.

1997-01-01

A low stress gravel bed river is a river where the cross-sectional average dimensionless shear stress (??*) rarely exceeds 0.047. That is the case for the Gunnison River below Delta in Western Colorado. The cross-sectional average ??* in the Gunnison River has not exceeded 0.047, except at one cross section during one year, in the 87 years of record. A ??* of 0.047 is the critical ??* in the bed-load equation considered to be most applicable to gravel/cobble bed rivers (the Meyer-Peter, Mueller equation). According to this equation, there has been no bed-material movement in the Gunnison River since 1920; in fact there has been bed-material movement and this movement is biologically important. Bed-material is moved when the ??* is 0.016 or larger. Streamflows that cause a ??* of at least 0.016 maintain the aquatic habitat in a low shear stress river.

Mathematical aspects of assessing extreme events for the safety of nuclear plants

NASA Astrophysics Data System (ADS)

Potempski, Slawomir; Borysiewicz, Mieczyslaw

2015-04-01

In the paper the review of mathematical methodologies applied for assessing low frequencies of rare natural events like earthquakes, tsunamis, hurricanes or tornadoes, floods (in particular flash floods and surge storms), lightning, solar flares, etc., will be given in the perspective of the safety assessment of nuclear plants. The statistical methods are usually based on the extreme value theory, which deals with the analysis of extreme deviation from the median (or the mean). In this respect application of various mathematical tools can be useful, like: the extreme value theorem of Fisher-Tippett-Gnedenko leading to possible choices of general extreme value distributions, or the Pickands-Balkema-de Haan theorem for tail fitting, or the methods related to large deviation theory. In the paper the most important stochastic distributions relevant for performing rare events statistical analysis will be presented. This concerns, for example, the analysis of the data with the annual extreme values (maxima - "Annual Maxima Series" or minima), or the peak values, exceeding given thresholds at some periods of interest ("Peak Over Threshold"), or the estimation of the size of exceedance. Despite of the fact that there is a lack of sufficient statistical data directly containing rare events, in some cases it is still possible to extract useful information from existing larger data sets. As an example one can consider some data sets available from the web sites for floods, earthquakes or generally natural hazards. Some aspects of such data sets will be also presented taking into account their usefulness for the practical assessment of risk for nuclear power plants coming from extreme weather conditions.

Subdural empyema following lumbar facet joint injection: An exceeding rare complication.

PubMed

Fayeye, Oluwafikayo; Silva, Adikarige Haritha Dulanka; Chavda, Swarupsinh; Furtado, Navin Raoul

2016-01-01

Chronic low back pain is extremely common with a life time prevalence estimated at greater than 70%. Facet joint arthrosis is thought to be the causative aetiological substrate in approximately 25% of chronic low back pain cases. Facet joint injection is a routine intervention in the armamentarium for both the diagnostic and therapeutic management of chronic low back pain. In fact, a study by Carrino et al. reported in excess of 94,000 facet joint injection procedures were carried out in the US in 1999. Although generally considered safe, the procedure is not entirely without risk. Complications including bleeding, infection, exacerbation of pain, dural puncture headache, and pneumothorax have been described. We report a rare case of a 47-year-old female patient who developed a left L4/5 facet septic arthrosis with an associated subdural empyema and meningitis following facet joint injection. This case is unique, as to the best of our knowledge no other case of subdural empyema following facet joint injection has been reported in the literature. Furthermore this case serves to highlight the potential serious adverse sequelae of a routine and apparently innocuous intervention. The need for medical practitioners to be alert to and respond rapidly to the infective complications of facet joint injection cannot be understated. Copyright © 2016 Polish Neurological Society. Published by Elsevier Urban & Partner Sp. z o.o. All rights reserved.

Fatal Necrotizing Fasciitis Due to Streptococcus pneumoniae: A Case Report

PubMed Central

Park, So-Youn; Park, So Young; Moon, Soo-youn; Son, Jun Seong

2011-01-01

Necrotizing fasciitis is known to be a highly lethal infection of deep-seated subcutaneous tissue and superficial fascia. Reports of necrotizing fasciitis due to Streptococcus pneumoniae are exceedingly rare. We report a case of necrotizing fasciitis in a 62-yr-old man with liver cirrhosis and diabetes mellitus. He presented with painful swelling of left leg and right hand. On the day of admission, compartment syndrome was aggravated and the patient underwent surgical exploration. Intra-operative findings revealed necrotizing fasciitis and cultures of two blood samples and wound aspirates showed S. pneumoniae. The patient died despite debridement and proper antimicrobial treatment. To the best of our knowledge, this is the first case of fatal necrotizing fasciitis with meningitis reported in Korea. We also review and discuss the literature on pneumococcal necrotizing fasciitis. PMID:21218041

Ischemic stroke occurring during intercourse in young women on oral contraceptives.

PubMed

Miller, P Elliott; Brown, Lorrel; Khandheria, Paras; Resar, Jon R

2014-08-01

Ischemic stroke occurring during intercourse in young patients is exceedingly rare. We present 2 cases of young women taking oral contraceptives, each presenting with an ischemic stroke. Transthoracic echocardiography revealed a patent foramen ovale in one patient and an atrial septal defect in the other. The most likely cause of stroke in both patients is embolic. Despite conflicting evidence, young patients presenting with ischemic stroke and found to have a patent foramen ovale or atrial septal defect should be considered for possible device-based closure. Copyright © 2014 Elsevier Inc. All rights reserved.

Large intramuscular lipoma of the tongue.

PubMed

Fitzgerald, Kara; Sanchirico, Paul J; Pfeiffer, David C

2018-04-01

We describe a case of a 57-year-old man referred to an oral maxillofacial surgeon for a nontender, large intramuscular tongue mass. A computed tomography scan with contrast showed a homogenous right tongue intramuscular fatty mass measuring 3.8 cm × 2.8 cm in the axial dimension and 2.2 cm in the craniocaudal dimension. Histologic examination revealed multiple lobulated sections of mature adipocytes and occasional entrapped skeletal muscle fibers. The final pathologic diagnosis was intramuscular lipoma. Although lipomas account for approximately 50% of all soft tissue neoplasms, intramuscular (infiltrating) lipoma of the tongue is exceedingly rare.

Scalp Metastasis as the First Sign of Small-Cell Lung Cancer: Management and Literature Review

PubMed Central

Salemis, Nikolaos S.; Veloudis, Georgios; Spiliopoulos, Kyriakos; Nakos, Georgios; Vrizidis, Nikolaos; Gourgiotis, Stavros

2014-01-01

Cutaneous metastasis from primary visceral malignancy is a relatively uncommon clinical entity, with a reported incidence ranging from 0.22% to 10% among various series. However, the presence of cutaneous metastasis as the first sign of a clinically silent visceral cancer is exceedingly rare. We describe here a case of an asymptomatic male patient who presented with a solitary scalp metastasis as the initial manifestation of an underlying small-cell lung cancer. Diagnostic evaluation revealed advanced disease. We conclude that the possibility of metastatic skin disease should always be considered in the differential diagnosis in patients with a history of smoking or lung cancer presenting with cutaneous nodules. Physicians should be aware of this rare clinical entity, and appropriate investigation should be arranged for early diagnosis and initiation of the appropriate treatment. The prognosis for most patients remains poor. PMID:25058760

Scalp metastasis as the first sign of small-cell lung cancer: management and literature review.

PubMed

Salemis, Nikolaos S; Veloudis, Georgios; Spiliopoulos, Kyriakos; Nakos, Georgios; Vrizidis, Nikolaos; Gourgiotis, Stavros

2014-01-01

Cutaneous metastasis from primary visceral malignancy is a relatively uncommon clinical entity, with a reported incidence ranging from 0.22% to 10% among various series. However, the presence of cutaneous metastasis as the first sign of a clinically silent visceral cancer is exceedingly rare. We describe here a case of an asymptomatic male patient who presented with a solitary scalp metastasis as the initial manifestation of an underlying small-cell lung cancer. Diagnostic evaluation revealed advanced disease. We conclude that the possibility of metastatic skin disease should always be considered in the differential diagnosis in patients with a history of smoking or lung cancer presenting with cutaneous nodules. Physicians should be aware of this rare clinical entity, and appropriate investigation should be arranged for early diagnosis and initiation of the appropriate treatment. The prognosis for most patients remains poor.

Nasal septal abscess in association with pediatric acute rhinosinusitis.

PubMed

Tien, Duc A; Krakovitz, Paul; Anne, Samantha

2016-12-01

Nasal septal abscess (NSA) in the pediatric population is rare and can result in devastating complications. Objective of this study is to review a case series of pediatric patients presenting with NSA in association with acute rhinosinusitis (ARS) for possible risk factors and predisposing conditions. This is a retrospective review of pediatric patients that presented to a tertiary care hospital with nasal septal abscess associated with ARS. Patient demographics, presence of ARS, sinuses involved, and other potential risk factors were recorded. In addition, a literature review was conducted to evaluate other reported cases of NSA in association with ARS. Cases of NSA associated with trauma or other causes were excluded from analysis. Five patients with NSA were treated by the pediatric otolaryngology department of a tertiary care center from 2003 to 2014. Three of these cases were associated with ARS. Of these cases, the average age at diagnosis was 9.7 years. Two were male and one was female. In these cases, the bilateral frontal, maxillary and ethmoid sinuses were involved. Sphenoid involvement occurred in two patients. One case was associated with ipsilateral middle turbinate concha bullosa. The cartilaginous septum was compromised in all three cases. All patients were treated with incision and drainage. This is the largest case series of NSA described in the pediatric population. NSA is exceedingly rare but may be associated with ARS. While the etiology of NSA is not always clear, identifying and treating nasal septal abscesses early is imperative to reduce potentially devastating complications. Copyright © 2016 Elsevier Ireland Ltd. All rights reserved.

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

PubMed

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

2016-12-01

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

Rare Case of an Epithelial Cyst in an Intrapancreatic Accessory Spleen Treated by Robot-Assisted Spleen Preserving Distal Pancreatectomy.

PubMed

van Dijck, Willemijn P M; Groot, Vincent P; Brosens, Lodewijk A A; Hagendoorn, Jeroen; Rinkes, Inne H M Borel; van Leeuwen, Maarten S; Molenaar, I Quintus

2016-01-01

Epithelial cyst in an intrapancreatic accessory spleen (ECIPAS) is exceedingly rare with only 57 cases reported since the first publication in 1980. Comprehensive clinical and diagnostic features remain to be clarified. We present a case of ECIPAS in a 21-year-old Philippine woman who was admitted with right upper quadrant abdominal pain. A cystic lesion in the pancreatic tail was discovered and evaluated by computed tomography and magnetic resonance images. Based on clinical and radiological features a solid pseudopapillary neoplasm was suspected. The patient underwent robot-assisted spleen preserving distal pancreatectomy. Pathological evaluation revealed a 26 mm intrapancreatic accessory spleen with a 16 mm cyst, lined by multilayered epithelium in the tail of the pancreas. The postoperative course was uneventful. Differentiating ECIPAS from (pre)malignant cystic pancreatic neoplasms based on clinical and radiological features remains difficult. When typical radiological signs can be combined with scintigraphy using Technetium-99m labelled colloid or Technetium-99m labelled erythrocytes, which can identify the solid component of the lesion as splenic tissue, it should be possible to make the right diagnosis noninvasively. When pancreatectomy is inevitable due to symptoms or patient preference, minimally invasive laparoscopic or robot-assisted spleen preserving distal pancreatectomy should be considered.

Rare Case of an Epithelial Cyst in an Intrapancreatic Accessory Spleen Treated by Robot-Assisted Spleen Preserving Distal Pancreatectomy

PubMed Central

van Dijck, Willemijn P. M.; Brosens, Lodewijk A. A.; Hagendoorn, Jeroen; Rinkes, Inne H. M. Borel; van Leeuwen, Maarten S.

2016-01-01

Epithelial cyst in an intrapancreatic accessory spleen (ECIPAS) is exceedingly rare with only 57 cases reported since the first publication in 1980. Comprehensive clinical and diagnostic features remain to be clarified. We present a case of ECIPAS in a 21-year-old Philippine woman who was admitted with right upper quadrant abdominal pain. A cystic lesion in the pancreatic tail was discovered and evaluated by computed tomography and magnetic resonance images. Based on clinical and radiological features a solid pseudopapillary neoplasm was suspected. The patient underwent robot-assisted spleen preserving distal pancreatectomy. Pathological evaluation revealed a 26 mm intrapancreatic accessory spleen with a 16 mm cyst, lined by multilayered epithelium in the tail of the pancreas. The postoperative course was uneventful. Differentiating ECIPAS from (pre)malignant cystic pancreatic neoplasms based on clinical and radiological features remains difficult. When typical radiological signs can be combined with scintigraphy using Technetium-99m labelled colloid or Technetium-99m labelled erythrocytes, which can identify the solid component of the lesion as splenic tissue, it should be possible to make the right diagnosis noninvasively. When pancreatectomy is inevitable due to symptoms or patient preference, minimally invasive laparoscopic or robot-assisted spleen preserving distal pancreatectomy should be considered. PMID:27847657

Intensity-modulated radiotherapy for localized nasopharyngeal amyloidosis : Case report and literature review.

PubMed

Luo, Ming; Peng, Gang; Shi, Liangliang; Ming, Xing; Li, Zhenyu; Fei, Shijiang; Ding, Qian; Cheng, Jing

2016-12-01

Primary localized amyloidosis is characterized by the deposition of amyloid proteins restricted to one organ, without systemic involvement. Primary nasopharyngeal amyloidosis is an exceedingly rare condition, for which the standard treatment remains unknown. Because of its challenging anatomical position, surgery alone hardly results in complete resection of the localized amyloidosis. Therefore, an interdisciplinary planning board to design optimal treatment is of particular importance. A 39-year-old man presented with a several-week history of nasal obstruction and epistaxis. Computed tomography (CT) and magnetic resonance imaging (MRI) revealed the presence of a retro-odontoid nonenhancing soft tissue mass. The endoscopic biopsy demonstrated that the mass was amyloid in nature. An extensive systemic workup revealed an absence of inflammatory process, systemic amyloidosis, or plasma cell dyscrasia. The patient was treated with a combination of surgery and radiotherapy, showing no evidence of recurrence or progression at his 1‑year follow-up. Primary solitary amyloidosis is a rare form of amyloidosis. To the best of our knowledge, this is the first report of a nasopharyngeal amyloidosis case treated with excision and radiation leading to complete remission. Because of the difficulty for surgeons to achieve radical resection with such lesions, radiotherapy proved to be an excellent adjuvant treatment in this case.

An unusual case of mammary gland-like carcinoma of vulva: case report and review of literature.

PubMed

Baykal, C; Dünder, I; Turkmen, I C; Ozyar, E

2015-01-01

Accessory breast tissue is a very rare finding in the general population with an incidence of one to two percent. An even rarer occurrence is accessory mammary-like tissue which developed breast carcinoma. The authors present a case of aggressive and metastatic carcinoma of vulvar originating from mammary-like tissue. A 73-year-old Caucasian female presented with a lesion in her left vulva. The lesion was ulcerated and fragile. A dermatologist had evaluated the lesion and took a punch biopsy. Result was vulvar carcinoma. She was admitted to the gynecologic oncology clinic then after and was operated. After a radical vulvectomy and bilateral inguinal lymphadenectomy she received adjuvant radiotherapy because of lymph node metastasis. One year after the finish of radiotherapy patient was found to have lung and femur metastasis. She began to receive systemic chemotherapy for metastasis. Primary mammary-like adenocarcinoma of the vulva is exceedingly rare. There is no consensus about the diagnosis, treatment, and follow up of these patients in literature. However, given that histological data confirms these cancers are behaving like breast cancers instead of known patterns of vulva cancer, the best treatment practices for breast cancer may be applied to treat these vulvar carcinoma patients.

Portal vein aneurysm: What to know.

PubMed

Laurenzi, Andrea; Ettorre, Giuseppe Maria; Lionetti, Raffaella; Meniconi, Roberto Luca; Colasanti, Marco; Vennarecci, Giovanni

2015-11-01

Portal vein aneurysm is an unusual vascular dilatation of the portal vein, which was first described by Barzilai and Kleckner in 1956 and since then less than 200 cases have been reported. The aim of this article is to provide an overview of the international literature to better clarify various aspects of this rare nosological entity and provide clear evidence-based summary, when available, of the clinical and surgical management. A systematic literature search of the Pubmed database was performed for all articles related to portal vein aneurysm. All articles published from 1956 to 2014 were examined for a total of 96 reports, including 190 patients. Portal vein aneurysm is defined as a portal vein diameter exceeding 1.9 cm in cirrhotic patients and 1.5 cm in normal livers. It can be congenital or acquired and portal hypertension represents the main cause of the acquired version. Surgical indication is considered in case of rupture, thrombosis or symptomatic aneurysms. Aneurysmectomy and aneurysmorrhaphy are considered in patients with normal liver, while shunt procedures or liver transplantation are the treatment of choice in case of portal hypertension. Being such a rare vascular entity its management should be reserved to high-volume tertiary hepato-biliary centres. Copyright © 2015 Editrice Gastroenterologica Italiana S.r.l. Published by Elsevier Ltd. All rights reserved.

Solitary fibrous tumor of the prostate: case report and review of the literature.

PubMed

Moureau-Zabotto, Laurence; Chetaille, Bruno; Bladou, Franck; Dauvergne, Pierre-Yves; Marcy, Myriam; Perrot, Delphine; Guiramand, Jérôme; Sarran, Anthony; Bertucci, François

2012-01-01

Solitary fibrous tumor (SFT), usually described in the pleura, is exceedingly rare in the prostate. We report a 60-year-old man with prostatic SFT revealed by obstructive urinary symptoms, and detected by ultrasonography. Computed tomography (CT) and magnetic resonance imaging suggested a prostatic origin. CT-guided tumor biopsy diagnosed a SFT. A cystoprostatectomy was performed. Pathologic examination showed a 15-cm tumor arising from the prostate and showing histological criteria suggestive of aggressiveness. The surgical resection margins were tumor-free. The patient was then regularly monitored and is still alive in complete remission, 28 months after surgery. In conclusion, we report a new exceptional case of prostatic SFT. We review the literature and discuss the challenging issues of misdiagnosis, prognosis and treatment.

Solitary Fibrous Tumor of the Prostate: Case Report and Review of the Literature

PubMed Central

Moureau-Zabotto, Laurence; Chetaille, Bruno; Bladou, Franck; Dauvergne, Pierre-Yves; Marcy, Myriam; Perrot, Delphine; Guiramand, Jérôme; Sarran, Anthony; Bertucci, François

2012-01-01

Solitary fibrous tumor (SFT), usually described in the pleura, is exceedingly rare in the prostate. We report a 60-year-old man with prostatic SFT revealed by obstructive urinary symptoms, and detected by ultrasonography. Computed tomography (CT) and magnetic resonance imaging suggested a prostatic origin. CT-guided tumor biopsy diagnosed a SFT. A cystoprostatectomy was performed. Pathologic examination showed a 15-cm tumor arising from the prostate and showing histological criteria suggestive of aggressiveness. The surgical resection margins were tumor-free. The patient was then regularly monitored and is still alive in complete remission, 28 months after surgery. In conclusion, we report a new exceptional case of prostatic SFT. We review the literature and discuss the challenging issues of misdiagnosis, prognosis and treatment. PMID:22379473

Acute distal biceps rupture in an adolescent weightlifter on chronic steroid suppression: a case report.

PubMed

Ding, David Y; LaMartina, Joey A; Zhang, Alan L; Pandya, Nirav K

2016-09-01

Distal biceps tendon ruptures are uncommon events in the adult population and exceedingly rare in the adolescent population. To the best of our knowledge, this is the first and only report of a distal biceps tendon rupture in an adolescent with a history of chronic corticosteroid suppression. We present a case of a 17-year-old male on chronic corticosteroid suppression who underwent a successful distal biceps tendon repair after an acute rupture following weightlifting. At the 1-year follow-up, the patient reports full range of motion and strength, and is able to return to his preinjury activity level with sports and weightlifting. Acute distal biceps ruptures are uncommon injuries in the pediatric population, but may occur in conjunction with chronic corticosteroid use. Anatomic repair, when possible, can restore function and strength. level IV, case report.

Primary leiomyosarcoma of the seminal vesicle: case report and review of the literature.

PubMed

Cauvin, Cécile; Moureau-Zabotto, Laurence; Chetaille, Bruno; Hilgers, Werner; Denoux, Yves; Jacquemier, Jocelyne; Guiramand, Jérôme; Sarran, Anthony; Bertucci, François

2011-07-29

Primary leiomyosarcoma of the seminal vesicle is exceedingly rare. We report a case of a 59-year-old man with tumour detected by rectal symptoms and ultrasonography. Computed tomography and magnetic resonance imaging suggested an origin in the right seminal vesicle. Transperineal biopsy of the tumour revealed leiomyosarcoma. A radical vesiculo-prostactectomy with bilateral pelvic lymphadenectomy was performed. Pathological examination showed a grade 2 leiomyosarcoma of the seminal vesicle. The patient received adjuvant radiotherapy. He developed distant metastases 29 months after diagnosis, and received chemotherapy. Metastatic disease was controlled by second-line gemcitabine-docetaxel combination. Fifty-one months after diagnosis of the primary tumour, and 22 months after the first metastases, the patient is alive with excellent performance status, and multiple asymptomatic stable lung and liver lesions. We report the eighth case of primary leiomyosarcoma of the seminal vesicle and the first one with a so long follow-up.

A preliminary case-mix classification system for Medicare home health clients.

PubMed

Branch, L G; Goldberg, H B

1993-04-01

In this study, a hierarchical case-mix model was developed for grouping Medicare home health beneficiaries homogeneously, based on the allowed charges for their home care. Based on information from a two-page form from 2,830 clients from ten states and using the classification and regression trees method, a four-component model was developed that yielded 11 case-mix groups and explained 22% of the variance for the test sample of 1,929 clients. The four components are rehabilitation, special care, skilled-nurse monitoring, and paralysis; each are categorized as present or absent. The range of mean-allowed charges for the 11 groups in the total sample was $473 to $2,562 with a mean of $847. Of the six groups with mean charges above $1,000, none exceeded 5.2% of clients; thus, the high-cost groups are relatively rare.

Contralateral Superior Cerebellar Artery Syndrome: A Consequence of Brain Herniation

PubMed Central

Mohseni, Meysam; Habibi, Zohreh; Nejat, Farideh

2017-01-01

Vascular compromise is a well-known consequence of brain herniation syndromes. Transtentorial brain herniation most often involves posterior cerebral arteries. However, isolated involvement of contralateral superior cerebellar artery (SCA) during unilateral impending brain herniation is reported only once and we present another case of this exceedingly rare entity. A 24-year-old man was referred to us with impending herniation due to a multiloculated hydrocephalus, and during the course of illness, he developed an isolated SCA ischemia in the opposite side of the most dilated entrapped horn. In the current article we discuss the probable pathophysiologic mechanisms of this phenomenon, as well as recommending more inclusive brain studies in cases suspected of Kernohan-Woltman notch phenomenon in unilateral brain herniation. The rationale for this commentary is that contralateral SCA transient ischemia or infarct might be the underdiagnosed underlying pathomechanism of ipsilateral hemiparesis occurring in many cases of this somehow vague phenomenon. PMID:28490164

Dual pathology—An unreported case

PubMed Central

Yap, Darren; Rasheed, Ashraf; Rashid, Majid

2015-01-01

Introduction Symptomatic biliary disease in children and young adults requiring surgical intervention are uncommon. However even rarer is the occurrence of a spontaneous gallbladder necrosis in a child. We report a case of spontaneous necrosis in a child with no apparent causative factors. Case Fit and well 16 year-old boy presented with acute generalized lower abdominal pain. Examination revealed mild epigastric pain with rebound tenderness and guarding of the right iliac fossa. Diagnostic laparoscopy showed a necrotic gallbladder and incidental finding of a Meckel’s diverticulum. He had a cholecystectomy and Meckel’s diverticulum resection. Patient recovered uneventfully and was discharged home. He was reviewed 2 months later and recovered well with no evidence of any post-operative complication. He was discharged without any further follow up. Discussion Gall bladder necrosis is a rare cause of an acute abdomen. We present the first reported case of a spontaneous gallbladder necrosis with no apparent cause. Literature review showed various causes of gall bladder necrosis including trauma, acalculous cholecystitis, gallbladder torsion, gangrenous cholecystitis and etc. Conclusion We report a case of spontaneous gallbladder necrosis in a young healthy male with no family history of thrombotic disorders or any history of sepsis, intervention, trauma and no obvious underlying anatomical or histological abnormalities. This is an exceedingly rare pathology and one would be forgiven for not including it on the list of a differential diagnosis in such circumstance. However it is important to send tissue sample to exclude any underlying histological aetiological factors. PMID:26657530

The long-term prognosis of congenital portosystemic venous shunt.

PubMed

Uchino, T; Matsuda, I; Endo, F

1999-08-01

Congenital portosystemic venous shunt (PSVS), considered to be a rare disease, can lead to hepatic encephalopathy (HE). With improvements in diagnostic imaging techniques, the number of infants and children with documented PSVS has increased. The natural course of the disease and indications for surgical closure of the shunt vessel have not been well defined. We reviewed 51 cases of congenital PSVS in Japan; 34 patients had an intrahepatic PSVS, and 17 had an extrahepatic PSVS. There were 12 patients with HE at the time of diagnosis. The frequency of HE increased in subjects over 60 years of age. Children with HE had a shunt ratio exceeding 60%. When the shunt ratio was less than 30%, HE did not occur. Twenty of 28 patients under the age of 15 years had hypergalactosemia at the time of neonatal screening. Part of the congenital intrahepatic PSVS spontaneously closed. Surgical closure of a PSVS may be an approach expected to prevent HE when the shunt ratio exceeds 60%.

Survey and evaluation of mutations in the human KLF1 transcription unit.

PubMed

Gnanapragasam, Merlin Nithya; Crispino, John D; Ali, Abdullah M; Weinberg, Rona; Hoffman, Ronald; Raza, Azra; Bieker, James J

2018-04-26

Erythroid Krüppel-like Factor (EKLF/KLF1) is an erythroid-enriched transcription factor that plays a global role in all aspects of erythropoiesis, including cell cycle control and differentiation. We queried whether its mutation might play a role in red cell malignancies by genomic sequencing of the KLF1 transcription unit in cell lines, erythroid neoplasms, dysplastic disorders, and leukemia. In addition, we queried published databases from a number of varied sources. In all cases we only found changes in commonly notated SNPs. Our results suggest that if there are mutations in KLF1 associated with erythroid malignancies, they are exceedingly rare.

Bilateral mastoiditis from red tide exposure.

PubMed

Honner, Samantha; Kudela, Raphael M; Handler, Ethan

2012-10-01

Bilateral mastoiditis in adults has previously been reported only in association with diabetes mellitus or immunocompromised patients. To describe a case of bilateral mastoiditis in a healthy adult and to investigate the etiology. A 53-year-old woman presented to the Emergency Department with bilateral otitis externa and mastoiditis after scuba diving during a harmful algal bloom, commonly known as a "red tide." The levels of coliform bacteria recorded at the time and location of her dive exceeded health regulatory limits and correlate with her atypical culture results. Elevated bacterial counts that result from harmful algal blooms may account for this rare infection. Copyright © 2012 Elsevier Inc. All rights reserved.

Nuclear Protein in Testis Carcinoma of the Thorax.

PubMed

Maruyama, Naomi; Hikiishi, Atsuhito; Suginaka, Miho; Furukawa, Koichi; Ogawa, Koichi; Nakamura, Naoki; Yoshida, Yae; Takata, Munetake; Nishijima, Masayoshi; Otani, Kenichiro; Kamimori, Takao; Fujiwara, Hiroshi; Yoshimatsu, Yuki; Ueda, Kayo

2018-06-06

Nuclear protein in testis (NUT) carcinoma (NUT-C) is an exceedingly rare and aggressive neoplasm. We herein report a case of a 57-year-old man with a rapidly progressing tumor of the thorax and left pleural effusion. The pathological features and immunohistochemical staining of specimens obtained by a transbronchial lung biopsy initially indicated poorly differentiated squamous cell carcinoma. However, given the clinical presentation along with the additional histopathologic features, NUT-C was considered. Immunohistochemical staining for NUT was positive in the pleural fluid cell block, confirming the diagnosis of NUT-C. This report indicates the utility of immunohistochemical staining for diagnosing NUT in the pleural fluid cell block.

Secondary hypertriglyceridemia in children and adolescents.

PubMed

Blackett, Piers R; Wilson, Don P; McNeal, Catherine J

2015-01-01

Secondary dyslipidemia with predominant hypertriglyceridemia may occur as a consequence of both common and rare causes. After accounting for obesity and associated insulin resistance, clinicians should carefully consider other contributing factors and conditions. Genetic background and causative factors prevail during gestation, infancy, and childhood and continue in adults. Elevations in triglyceride (TG) are associated with transfer of TG to high-density lipoprotein (HDL) and low-density lipoprotein (LDL) resulting in lipolysis, HDL degradation, and formation of atherogenic LDL particles. Defining and treating the underlying cause is the first step toward restoring the lipids and lipoproteins to normal, especially in cases with severe hypertriglyceridemia, who are at risk for acute pancreatitis. Disorders involving the liver, kidney, endocrine, and immune systems and medications need to be considered. Rare diseases such as lipodystrophy and glycogen storage disease are particularly challenging, and there have been promising new developments. Treatment depends on the severity; prevention of acute pancreatitis being a priority in severe cases and lifestyle modification being a foundation for general management followed by targeting TG and predictors of coronary artery disease such as LDL cholesterol and non-HDL cholesterol, when they exceed cutpoints. Copyright © 2015 National Lipid Association. Published by Elsevier Inc. All rights reserved.

Non-functioning parathyroid cystic tumour: malignant or not? Report of a case

PubMed Central

COCORULLO, G.; SCERRINO, G.; MELFA, G.; RASPANTI, C.; ROTOLO, G.; MANNINO, V.; RICHIUSA, P.; CABIBI, D.; GIANNONE, A.G.; PORRELLO, C.; GULOTTA, G.

2017-01-01

Parathyroid carcinoma (PC) is a very rare endocrine tumour, usually characterized by symptoms such as a neck mass, dysphonia, severe hypercalcemia exceeding 140 mg/L and elevated serum parathyroid hormone levels, even more than 5 times the upper limit of normal. Non-functioning parathyroid cancer is extremely rare and, in this case, its pre-operative diagnosis is often difficult. A 54-year old female patient, referring dysphagia and dysphonia, underwent neck ultrasound and neck CT. A left thyroid nodule, probably cystic, was found. It presented caudal extent on anterior mediastinum causing compression of the left lateral wall of the trachea. The preoperative calcemia was into the normal range. The patient underwent left thyroid lobectomy. Histological exam showed a cystic lesion, immunohistochemically originating from parathyroid that oriented for carcinoma. The 18 months follow-up did not show a residual-recurrent disease. The parathyroid origin of a neck lesion could not be suspected before surgery when specific laboratory tests are not available and clinical effects of hyperparathyroidism syndrome are not present. Histological features are not always sufficient for the differential diagnosis between the parathyroid adenoma and carcinoma. The immunohistochemistry is an useful tool that can aid to reach the definite diagnosis. PMID:29280705

Non-functioning parathyroid cystic tumour: malignant or not? Report of a case.

PubMed

Cocorullo, G; Scerrino, G; Melfa, G; Raspanti, C; Rotolo, G; Mannino, V; Richiusa, P; Cabibi, D; Giannone, A G; Porrello, C; Gulotta, G

2017-01-01

Parathyroid carcinoma (PC) is a very rare endocrine tumour, usually characterized by symptoms such as a neck mass, dysphonia, severe hypercalcemia exceeding 140 mg/L and elevated serum parathyroid hormone levels, even more than 5 times the upper limit of normal. Non-functioning parathyroid cancer is extremely rare and, in this case, its pre-operative diagnosis is often difficult. A 54-year old female patient, referring dysphagia and dysphonia, underwent neck ultrasound and neck CT. A left thyroid nodule, probably cystic, was found. It presented caudal extent on anterior mediastinum causing compression of the left lateral wall of the trachea. The preoperative calcemia was into the normal range. The patient underwent left thyroid lobectomy. Histological exam showed a cystic lesion, immunohistochemically originating from parathyroid that oriented for carcinoma. The 18 months follow-up did not show a residual-recurrent disease. The parathyroid origin of a neck lesion could not be suspected before surgery when specific laboratory tests are not available and clinical effects of hyperparathyroidism syndrome are not present. Histological features are not always sufficient for the differential diagnosis between the parathyroid adenoma and carcinoma. The immunohistochemistry is an useful tool that can aid to reach the definite diagnosis.

Chest pain, troponin rise, and ST-elevation in an adolescent boy following the use of the synthetic cannabis product K2.

PubMed

Zaleta, Sona; Kumar, Prashant; Miller, Sarah

2016-01-01

"Legal highs" such as K2, which typically contain synthetic cannabinoids, are increasingly popular with adolescents around the world. We have limited knowledge concerning their toxicity or adverse effects and their mechanism of action is poorly understood. While synthetic cannabinoids have been linked to adverse cardiovascular effects, cases of ST-elevation myocardial infarction (STEMI) associated with K2 use are exceedingly rare. We report a case of a 14-year-old boy who suffered an STEMI after smoking K2. To our knowledge, this is not only the youngest case of an STEMI associated with K2 use, but also the first case to be reported outside of the United States of America. Pediatricians worldwide must be aware of the clinical significance and potential harm associated with the use of synthetic cannabinoids, to better educate patients and their families regarding the dangers of using such "legal" substances.

Recurrent Penile Fracture-Case Report and Alternative Surgical Approach.

PubMed

Nascimento, Bruno; Guglielmetti, Giuliano B; Miranda, Eduardo P; Ivanovic, Renato F; Batagello, Carlos A; Nahas, William C; Srougi, Miguel; Cury, José

2018-05-03

Penile refracture is an exceedingly rare event, with very few published studies. To the best of our knowledge, this is the first documented case in the literature of penile fracture with 3 same-site recurrences. To describe the case of a 25-year-old Caucasian man with recurrent penile fracture ultimately treated with resuture and patch reinforcement. Patient history (clinical and surgical) and literature review. After the 3rd same-site recurrence, patch reinforcement over the sutured area was performed. The patient had an uneventful recovery and no recurrences to date. There is no evidence indicating the superiority of non-absorbable sutures. Bovine pericardium reinforcement over the sutured area was used to minimize the chance of another recurrence. More studies are necessary to investigate its safety and efficacy in this scenario. Nascimento B, Guglielmetti GB, Miranda EP, et al. Recurrent Penile Fracture-Case Report and Alternative Surgical Approach. Sex Med 2018;X:XX-XX. Copyright © 2018 The Authors. Published by Elsevier Inc. All rights reserved.

Mining Rare Associations between Biological Ontologies

PubMed Central

Benites, Fernando; Simon, Svenja; Sapozhnikova, Elena

2014-01-01

The constantly increasing volume and complexity of available biological data requires new methods for their management and analysis. An important challenge is the integration of information from different sources in order to discover possible hidden relations between already known data. In this paper we introduce a data mining approach which relates biological ontologies by mining cross and intra-ontology pairwise generalized association rules. Its advantage is sensitivity to rare associations, for these are important for biologists. We propose a new class of interestingness measures designed for hierarchically organized rules. These measures allow one to select the most important rules and to take into account rare cases. They favor rules with an actual interestingness value that exceeds the expected value. The latter is calculated taking into account the parent rule. We demonstrate this approach by applying it to the analysis of data from Gene Ontology and GPCR databases. Our objective is to discover interesting relations between two different ontologies or parts of a single ontology. The association rules that are thus discovered can provide the user with new knowledge about underlying biological processes or help improve annotation consistency. The obtained results show that produced rules represent meaningful and quite reliable associations. PMID:24404165

Mining rare associations between biological ontologies.

PubMed

Benites, Fernando; Simon, Svenja; Sapozhnikova, Elena

2014-01-01

The constantly increasing volume and complexity of available biological data requires new methods for their management and analysis. An important challenge is the integration of information from different sources in order to discover possible hidden relations between already known data. In this paper we introduce a data mining approach which relates biological ontologies by mining cross and intra-ontology pairwise generalized association rules. Its advantage is sensitivity to rare associations, for these are important for biologists. We propose a new class of interestingness measures designed for hierarchically organized rules. These measures allow one to select the most important rules and to take into account rare cases. They favor rules with an actual interestingness value that exceeds the expected value. The latter is calculated taking into account the parent rule. We demonstrate this approach by applying it to the analysis of data from Gene Ontology and GPCR databases. Our objective is to discover interesting relations between two different ontologies or parts of a single ontology. The association rules that are thus discovered can provide the user with new knowledge about underlying biological processes or help improve annotation consistency. The obtained results show that produced rules represent meaningful and quite reliable associations.

Gastric volvulus through morgagni hernia: an easily overlooked emergency.

PubMed

Sonthalia, Nikhil; Ray, Sayantan; Khanra, Dibbendhu; Saha, Avishek; Maitra, Subhasis; Saha, Manjari; Talukdar, Arunansu

2013-06-01

Intractable vomiting in an elderly patient is an emergency condition requiring prompt diagnosis and intervention. Acute gastric outlet obstruction due to gastric volvulus through Morgagni-type diaphragmatic hernia is an exceedingly rare cause of this nonspecific complaint. Our aim was to highlight that Morgagni hernia, although rare in adults, should be suspected in the appropriate clinical setting, and that a clue toward diagnosis often comes from routine chest and abdominal x-ray studies. In addition, we emphasize the atypical radiological findings and importance of emergency surgical intervention in such a case. We describe the case of a 78-year-old woman who presented to the Emergency Department with a 4-day history of intractable vomiting, and with no definitive clue to the diagnosis on examination. Her routine chest and abdomen x-ray studies suggested abnormal air-fluid level at right hemithorax, which prompted a computed tomography (CT) scan of the abdomen and an upper gastrointestinal contrast study. Gastric volvulus through a foramen of Morgagni was diagnosed and transthoracic reduction of the contents was performed, along with repair of the defect. A symptomatic Morgagni hernia in adults, although rare, can present with a variety of symptoms ranging from nonspecific complaints of bloating and indigestion to the more severe complaint of intestinal obstruction. Gastric volvulus and obstructive features are less frequently reported as acute complications of these hernias, which need early identification and intervention. Copyright © 2013 Elsevier Inc. All rights reserved.

Case of a lung mass due to melioidosis in Mexico.

PubMed

Truong, Kimberly K; Moghaddam, Samer; Al Saghbini, Samer; Saatian, Bahman

2015-05-06

Melioidosis, an infection caused by the gram-negative bacterium Burkholderia pseudomallei, is an important cause of pneumonia, skin infection, sepsis, and death in Southeast Asia and Australia, but is exceedingly rare in North America. Pulmonary melioidosis typically presents as acute bacterial pneumonia or cavitary lung lesions resembling tuberculosis. We report melioidosis in a 70-year-old active smoker from Mexico with no history of travel to disease-endemic areas. The patient presented with a left supraclavicular abscess and a non-cavitary, left lung mass encasing a pulmonary vein. Incision and drainage of the patient's subcutaneous abscess isolated B. pseudomallei, and fine-needle aspiration of enlarged mediastinal lymph nodes revealed the presence of intracellular gram-negative bacilli with no evidence of malignancy. Biochemical tests determined that the strain the patient acquired from Mexico is identical to only 1 other isolate from Thailand. This report highlights the blurring epidemiological borders of this organism, its rare presentation mimicking lung malignancy, and an aggressive antimicrobial treatment that resulted in resolution of the patient's symptoms.

Detection of alkaptonuria in a 1-week-old infant.

PubMed

Thalagahage, Krishan Nilantha Hewa; Jayaweera, Jayaweera Arachchige Asela Sampath; Kumbukgolla, Wikum Widuranga; Senavirathne, Indika

2015-05-08

Alkaptonuria is a rare disorder that results from an inherited deficiency of aromatic amino acid metabolism. Only 21% of the children under the age of 1 year having the disease are identified in clinics. We report a case of a 1-week-old child of a first-degree consanguineous couple with a symptom of frequent nappy staining. Analysis of urine showed a homogentisic acid concentration exceeding 200 mg/dL. The physical examination revealed that the child was healthy. The parents' watchfulness and the close attention paid to the child were the keys to the early detection of this rare disease. After identifying the disease, adequate follow-up of the patient is important to reduce further complications. Anti-inflammatory therapy and increasing the muscle strength by exercises such as swimming would be useful to restrict joint pains and immobilisation. A low protein diet also could be recommended; that fact is yet to be proven by clinical trials. 2015 BMJ Publishing Group Ltd.

Detection of alkaptonuria in a 1-week-old infant

PubMed Central

Thalagahage, Krishan Nilantha Hewa; Jayaweera, Jayaweera Arachchige Asela Sampath; Kumbukgolla, Wikum Widuranga; Senavirathne, Indika

2015-01-01

Alkaptonuria is a rare disorder that results from an inherited deficiency of aromatic amino acid metabolism. Only 21% of the children under the age of 1 year having the disease are identified in clinics. We report a case of a 1-week-old child of a first-degree consanguineous couple with a symptom of frequent nappy staining. Analysis of urine showed a homogentisic acid concentration exceeding 200 mg/dL. The physical examination revealed that the child was healthy. The parents’ watchfulness and the close attention paid to the child were the keys to the early detection of this rare disease. After identifying the disease, adequate follow-up of the patient is important to reduce further complications. Anti-inflammatory therapy and increasing the muscle strength by exercises such as swimming would be useful to restrict joint pains and immobilisation. A low protein diet also could be recommended; that fact is yet to be proven by clinical trials. PMID:25956497

Abacavir-induced fulminant hepatic failure in a HIV/HCV co-infected patient

PubMed Central

Haas, Christopher; Ziccardi, Mary Rodriguez; Borgman, Jody

2015-01-01

Abacavir hypersensitivity is a rare, yet significant adverse reaction that results in a spectrum of physical and laboratory abnormalities, and has been postulated to stem from a variety of aetiological factors. The major histocompatibility complex haplotype human leucocyte antigen (HLA)-B5701 is a significant risk factor in development of hypersensitivity reactions, yet only 55% of HLA-B5701+ individuals develop such reactions, suggesting a multifactorial aetiology. Nevertheless, prospective screening and avoidance of abacavir in these patients has limited adverse events. Within this spectrum of adverse events, abacavir-induced liver toxicity is exceedingly rare and reported events have ranged from mild elevations of aminotransferases to fulminant hepatic failure. We report the case of a 50-year-old Caucasian woman with a history significant for HIV, hepatitis C virus and a HLA-B5701+ status, transferred to our emergency department in a hypotensive state and found to have acute liver failure, acute renal failure and significant rhabdomyolysis following a change of highly active antiretroviral therapy regimen. PMID:26670894

Abacavir-induced fulminant hepatic failure in a HIV/HCV co-infected patient.

PubMed

Haas, Christopher; Ziccardi, Mary Rodriguez; Borgman, Jody

2015-12-15

Abacavir hypersensitivity is a rare, yet significant adverse reaction that results in a spectrum of physical and laboratory abnormalities, and has been postulated to stem from a variety of aetiological factors. The major histocompatibility complex haplotype human leucocyte antigen (HLA)-B5701 is a significant risk factor in development of hypersensitivity reactions, yet only 55% of HLA-B5701+ individuals develop such reactions, suggesting a multifactorial aetiology. Nevertheless, prospective screening and avoidance of abacavir in these patients has limited adverse events. Within this spectrum of adverse events, abacavir-induced liver toxicity is exceedingly rare and reported events have ranged from mild elevations of aminotransferases to fulminant hepatic failure. We report the case of a 50-year-old Caucasian woman with a history significant for HIV, hepatitis C virus and a HLA-B5701+ status, transferred to our emergency department in a hypotensive state and found to have acute liver failure, acute renal failure and significant rhabdomyolysis following a change of highly active antiretroviral therapy regimen. 2015 BMJ Publishing Group Ltd.

Anterior mitral valve aneurysm: a rare sequelae of aortic valve endocarditis.

PubMed

Janardhanan, Rajesh; Kamal, Muhammad Umar; Riaz, Irbaz Bin; Smith, M Cristy

2016-03-01

SummaryIn intravenous drug abusers, infective endocarditis usually involves right-sided valves, with Staphylococcus aureus being the most common etiologic agent. We present a patient who is an intravenous drug abuser with left-sided (aortic valve) endocarditis caused by Enterococcus faecalis who subsequently developed an anterior mitral valve aneurysm, which is an exceedingly rare complication. A systematic literature search was conducted which identified only five reported cases in the literature of mitral valve aneurysmal rupture in the setting of E. faecalis endocarditis. Real-time 3D-transesophageal echocardiography was critical in making an accurate diagnosis leading to timely intervention. Early recognition of a mitral valve aneurysm (MVA) is important because it may rupture and produce catastrophic mitral regurgitation (MR) in an already seriously ill patient requiring emergency surgery, or it may be overlooked at the time of aortic valve replacement (AVR).Real-time 3D-transesophageal echocardiography (RT-3DTEE) is much more advanced and accurate than transthoracic echocardiography for the diagnosis and management of MVA. © 2016 The authors.

Dual pathology-An unreported case.

PubMed

Yap, Darren; Rasheed, Ashraf; Rashid, Majid

2015-01-01

Symptomatic biliary disease in children and young adults requiring surgical intervention are uncommon. However even rarer is the occurrence of a spontaneous gallbladder necrosis in a child. We report a case of spontaneous necrosis in a child with no apparent causative factors. Fit and well 16 year-old boy presented with acute generalized lower abdominal pain. Examination revealed mild epigastric pain with rebound tenderness and guarding of the right iliac fossa. Diagnostic laparoscopy showed a necrotic gallbladder and incidental finding of a Meckel's diverticulum. He had a cholecystectomy and Meckel's diverticulum resection. Patient recovered uneventfully and was discharged home. He was reviewed 2 months later and recovered well with no evidence of any post-operative complication. He was discharged without any further follow up. Gall bladder necrosis is a rare cause of an acute abdomen. We present the first reported case of a spontaneous gallbladder necrosis with no apparent cause. Literature review showed various causes of gall bladder necrosis including trauma, acalculous cholecystitis, gallbladder torsion, gangrenous cholecystitis and etc. We report a case of spontaneous gallbladder necrosis in a young healthy male with no family history of thrombotic disorders or any history of sepsis, intervention, trauma and no obvious underlying anatomical or histological abnormalities. This is an exceedingly rare pathology and one would be forgiven for not including it on the list of a differential diagnosis in such circumstance. However it is important to send tissue sample to exclude any underlying histological aetiological factors. Copyright © 2015 The Authors. Published by Elsevier Ltd.. All rights reserved.

Diffuse large B-cell lymphoma solely involving bilateral adrenal glands and stomach: report of an extremely rare case with review of the literature.

PubMed

Wakabayashi, Mutsumi; Sekiguchi, Yasunobu; Shimada, Asami; Ichikawa, Kunimoto; Sugimoto, Keiji; Tomita, Shigeki; Izumi, Hiroshi; Nakamura, Noriko; Sawada, Tomohiro; Ohta, Yasunori; Komatsu, Norio; Noguchi, Masaaki

2014-01-01

A 60-year-old man complained of nausea, vomiting, decreased appetite, and a feeling of abdominal fullness in August 2013. Based on biopsy findings from an upper gastrointestinal endoscopy examination, a diagnosis of non-Hodgkin's lymphoma (NHL), diffuse large B-cell lymphoma (DLBCL), non-GC type, was made. F18-fluorodeoxyglucose-positron emission tomography/computed tomography (FDG-PET/CT) revealed abnormal accumulations solely in the gastric wall (SUVmax = 14.5), the left adrenal gland (SUVmax = 14.3), and the right adrenal gland (SUVmax = 8.5). The clinical stage (Ann Arbor) was IVA, the serum LDH level was within the reference range, and the International Prognostic Index (IPI) was low-intermediate. The serum soluble IL-2 receptor level was within the reference range, and there was no evidence of HIV, EB virus, or autoimmune disease. After the completion of 4 cycles of R-CHOP (rituximab, cyclophosphamide, doxorubicin, vincristine, and prednisone) and 2 parallel cycles of prophylactic intrathecal (I.T.), an upper gastrointestinal endoscopy and a FDG-PET/CT examination showed complete remission (CR). The patient received 8 cycles of ritsuximab therapy, 6 cycles of CHOP, and 3 cycles of I.T. The patient has maintained a CR for about 14 months. A literature search revealed that malignant lymphoma with involvement confined to the adrenal gland and gastrointestinal tract is exceedingly rare, and only 3 cases of malignant lymphoma have been reported, with involvement of the stomach in 2 cases and the duodenum in 1 case. All of the cases were diagnosed as DLBCL. The case described herein represents the third case with involvement of the stomach.

Hybridization masks speciation in the evolutionary history of the Galápagos marine iguana

PubMed Central

MacLeod, Amy; Rodríguez, Ariel; Vences, Miguel; Orozco-terWengel, Pablo; García, Carolina; Trillmich, Fritz; Gentile, Gabriele; Caccone, Adalgisa; Quezada, Galo; Steinfartz, Sebastian

2015-01-01

The effects of the direct interaction between hybridization and speciation—two major contrasting evolutionary processes—are poorly understood. We present here the evolutionary history of the Galápagos marine iguana (Amblyrhynchus cristatus) and reveal a case of incipient within-island speciation, which is paralleled by between-island hybridization. In-depth genome-wide analyses suggest that Amblyrhynchus diverged from its sister group, the Galápagos land iguanas, around 4.5 million years ago (Ma), but divergence among extant populations is exceedingly young (less than 50 000 years). Despite Amblyrhynchus appearing as a single long-branch species phylogenetically, we find strong population structure between islands, and one case of incipient speciation of sister lineages within the same island—ostensibly initiated by volcanic events. Hybridization between both lineages is exceedingly rare, yet frequent hybridization with migrants from nearby islands is evident. The contemporary snapshot provided by highly variable markers indicates that speciation events may have occurred throughout the evolutionary history of marine iguanas, though these events are not visible in the deeper phylogenetic trees. We hypothesize that the observed interplay of speciation and hybridization might be a mechanism by which local adaptations, generated by incipient speciation, can be absorbed into a common gene pool, thereby enhancing the evolutionary potential of the species as a whole. PMID:26041359

En bloc resection for treatment of tumor-induced osteomalacia: a case presentation and a systematic review.

PubMed

Meng, Tong; Zhou, Wang; Li, Bo; Yin, Huabin; Li, Zhenxi; Zhou, Lei; Kong, Jinhai; Yan, Wangjun; Yang, Xinghai; Liu, Tielong; Song, Dianwen; Xiao, Jianru

2015-05-08

Tumor-induced osteomalacia (TIO) is a rare disorder, which is commonly found in craniofacial locations and in the extremities. To the best of our knowledge, only 16 cases have been described in the spine, and this is the first report to describe a case of patient with TIO in the thoracic spine combined with a mesenchymal hamartoma which had confused the therapeutic strategies to date. We report the case of a 60-year-old patient with hypophosphatemia and presented with limb weakness. Treating with phosphate did not correct the hypophosphatemia and an (111)In pentetreotide scintigraphy (octreotide scan) revealed an increased uptake at the right forearm. The tumor was resected totally, and the histopathology revealed a mesenchymal hamartoma, but we noticed that hypophosphatemia was not corrected after the tumor resection. Then a whole-body magnetic resonance imaging (WB-MRI) was performed and the results revealed tumorous tissues at the right T1 vertebral pedicle. The tumor was removed with an en bloc method, and the pathology showed phosphaturic mesenchymal tumor. Follow-up at 1 year after surgery revealed no recurrence, and the serum phosphorus level of the patient was normal. Tumor-induced osteomalacia is exceedingly rare with only 16 cases in spine published in the literature. It is difficult to find and leads to years of suffering debilitating complications. In this regard, the WB-MRI is a better method to locate the real tumor. Treating with phosphate can only relieve symptoms, and a complete surgical removal remains the gold standard treatment.

Cytomegalovirus retinitis complicating combination therapy with rituximab and fludarabine.

PubMed

Chan, Thomas S Y; Cheung, Carol Y M; Yeung, Ian Y L; Hwang, Yu-Yan; Gill, Harinder; Wong, Ian Y; Kwong, Yok-Lam

2015-06-01

Cytomegalovirus (CMV) retinitis is exceptionally rare outside the clinical context of acquired immunodeficiency syndrome and organ allografting. In a population where seropositivity for past CMV infection exceeded 90 %, CMV retinitis was observed in five of 138 patients (3.6 %) receiving fludarabine-containing regimens together with rituximab, which was significantly more frequent than in 141 patients receiving fludarabine-containing regimens alone, where no case was observed (P = 0.029). Treatment of CMV retinitis comprised both intravitreal and systemic ganciclovir/foscarnet. Upon recovery, secondary retinal atrophy occurred in all patients, leading to blindness in 86 % of affected eyes. CMV retinitis is an important complication in patients receiving concomitant rituximab and fludarabine-containing regimens.

Mixed cortical adenoma and composite pheochromocytoma-ganglioneuroma: an unusual corticomedullary tumor of the adrenal gland.

PubMed

Lau, Sean K; Chu, Peiguo G; Weiss, Lawrence M

2011-06-01

Adrenal neoplasms composed of more than one cell type and demonstrating a mixed histologic appearance are exceedingly rare. We report the clinical and pathologic features of a morphologically distinctive tumor of the adrenal gland composed of cortical, chromaffin, and neural cells. Histologically, the tumor consisted of intermixed areas of proliferating cortical cells resembling adrenal cortical adenoma, neoplastic chromaffin cells consistent with pheochromocytoma, and a ganglioneuromatous stroma. The presence of the cortical, medullary, and neural components within the tumor was confirmed by immunohistochemical studies. The present case serves to broaden the morphologic spectrum of mixed tumors that may be encountered in the adrenal gland. Copyright © 2011 Elsevier Inc. All rights reserved.

Bilateral juvenile nasopharyngeal angiofibroma: report of a case.

PubMed

Wu, Edward C; Chark, Davin W; Bhandarkar, Naveen D

2014-07-01

Juvenile nasopharyngeal angiofibroma (JNA) is the most common benign neoplasm of the nasopharynx. Almost always unilateral on diagnosis, JNAs are locally invasive and may extend across the midline, giving a false bilateral appearance; as such, true bilateral JNA is exceedingly rare. We present a recent case of true bilateral JNA. Single case report of a patient with bilateral JNA, including clinical presentation, diagnosis, and management. The patient presented with unilateral nasal obstruction and recurrent epistaxis. Computed tomography and magnetic resonance imaging demonstrated bilateral, noncontiguous masses. Angiography revealed independent vascular supplies from each respective side with no bilateral supply noted. The patient underwent preoperative embolization followed by endoscopic surgical removal of the larger mass; no complications were noted. Follow-up at 2 years demonstrated no recurrence or growth. The vast majority of JNAs are unilateral, though invasive growth to the contralateral side may appear "bilateral" in presentation. Proper identification of true bilateral JNA is helpful in guiding management, wherein excision of both tumors may not be necessary. © 2014 ARS-AAOA, LLC.

Basal Cell Carcinoma Arising in a Breast Augmentation Scar.

PubMed

Edwards, Lisa R; Cresce, Nicole D; Russell, Mark A

2017-04-01

We report a case of a 46-year-old female who presented with a persistent lesion on the inferior right breast. The lesion was located within the scar from a breast augmentation procedure 12 years ago. The lesion had been treated as several conditions with no improvement. Biopsy revealed a superficial and nodular basal cell carcinoma, and the lesion was successfully removed with Mohs micrographic surgery. Basal cell carcinoma arising in a surgical scar is exceedingly rare with only 13 reported cases to date. This is the first reported case of basal cell carcinoma arising in a breast augmentation scar. We emphasize the importance of biopsy for suspicious lesions or those refractory to treatment, particularly those lesions that form within a scar. Level of Evidence V This journal requires that authors assign a level of evidence to each article. For a full description of these Evidence-Based Medicine ratings, please refer to the Table of Contents or the online Instructions to Authors www.springer.com/00266 .

Diagnosis and treatment of clear cell hidradenocarcinoma of the scalp.

PubMed

Shu, Kai; Xiao, Qungen; Büchele, Fabian; Zhang, Suojun; Jiang, Wei; Lei, Ting

2012-12-01

Clear cell hidradenocarcinoma (CCH) is an exceedingly rare and highly malignant tumor of the eccrine sweat glands. Its treatment is extremely difficult due to the characteristically aggressive clinical course including repeated local recurrence and uncontrollable distal metastasis coming along with a very poor prognosis. Most published case studies recommend a wide surgical excision followed by adjuvant conservative therapy, which is generally considered to be the standard treatment. Two cases of nodular CCH of the scalp either presenting as a singular primary lesion or at an already metastatic stage were analyzed retrospectively. Wide local excision of the tumor couldn't prevent the primary carcinoma from recurring and metastasizing. Both cases received various therapies but the results were unsatisfactory. Although most authors have recommended that early wide surgical excision of the tumor is a feasible therapeutic measurement, our results raise doubts on the efficacy of this treatment strategy. As alternative approaches (i.e. chemotherapy, radiotherapy) are similarly controversial, further studies and a wide exchange of clinical experiences are crucial.

The role of natural color additives in food allergy.

PubMed

Lucas, C D; Hallagan, J B; Taylor, S L

2001-01-01

A critical evaluation of the available information demonstrates that reactions to natural color additives are rare. Studies of turmeric and carotenoid pigments administered in mixtures with other food colorings failed to definitely identify reactions to either color additive. For carotenoids, the one case report of an adverse reaction was not conclusive. An anaphylactic reaction to saffron does suggest an IgE-mediated reaction, but the high use of saffron as compared with this single report of an adverse reaction suggests that sensitivity to saffron is extremely rare. Numerous reports of reactions to grapes or grape products have been reported in the literature, but no reports of sensitivities to grape skin extract or grape color extract were found. In rare cases, annatto dye may provoke a severe, adverse reaction in individuals with an uncommon hypersensitivity, and may aggravate the symptoms of patients suffering from recurrent urticaria. In its long history of use, there has been only one reported case of anaphylaxis resulting from the ingestion of annatto. Studies designed to investigate the role of annatto in recurrent urticaria sufferers were limited due to the absence of double-blind challenge and placebo controls. A number of cases of adverse reactions to carmine following ingestion have been reported in the literature. These adverse reactions suggest an IgE-mediated hypersensitivity. In many of the reported cases, the cause of sensitization to carmine was topical exposure from the use of carmine-containing cosmetics or occupational exposure to carmine and not from ingestion of carmine-containing foods and beverages. Following sensitization, affected individuals would be sensitive to carmine and the amounts present in foods and beverages could elicit allergic reactions. It is not known whether all individuals with carmine sensitivity induced through topical use are sensitive to the ingestion of carmine in foods. However, reactions to carmine solely because of ingestion are likely to be exceedingly rare due to the low use levels of carmine in foods and beverages. Despite their widespread use in food products, few reports of allergic reactions following ingestion have been reported for the majority of natural color additives. It is concluded that the ingestion of natural color additives presents a very low risk of provoking adverse reactions.

A Review of the Aetiopathogenesis and Clinical and Histopathological Features of Oral Mucosal Melanoma.

PubMed

Feller, Liviu; Khammissa, Razia A G; Lemmer, Johan

2017-01-01

Oral mucosal melanoma is an uncommon, usually heavily melanin-pigmented, but occasionally amelanotic aggressive tumour with a poor prognosis. Despite radical surgery, radiotherapy, or chemotherapy, local recurrence and distant metastasis are frequent. Microscopical examination is essential for diagnosis, and routine histological staining must be supplemented by immunohistochemical studies. The aetiology is unknown, the pathogenesis is poorly understood, and the 5-year survival rate rarely exceeds 30%. In most cases, oral mucosal melanoma arises from epithelial melanocytes in the basal layer of the epithelium and less frequently from immature melanocytes arrested in the lamina propria. In both cases the melanocytes undergo malignant transformation, invade deeper tissues, and metastasize to regional lymph nodes and to distant sites. Very rarely metastasis from skin melanoma may give rise to oral mucosal melanoma that may be mistaken for primary oral mucosal melanoma. The pathogenesis of oral mucosal melanoma is complex involving multiple interactions between cytogenetic factors including dysregulation of the cKit signalling pathways, cell cycle, apoptosis, and cell-to-cell interactions on the one hand and melanin itself, melanin intermediates, and local microenvironmental agents regulating melanogenesis on the other hand. The detailed mechanisms that initiate the malignant transformation of oral melanocytes and thereafter sustain and promote the process of melanomagenesis are unknown.

A Review of the Aetiopathogenesis and Clinical and Histopathological Features of Oral Mucosal Melanoma

PubMed Central

Lemmer, Johan

2017-01-01

Oral mucosal melanoma is an uncommon, usually heavily melanin-pigmented, but occasionally amelanotic aggressive tumour with a poor prognosis. Despite radical surgery, radiotherapy, or chemotherapy, local recurrence and distant metastasis are frequent. Microscopical examination is essential for diagnosis, and routine histological staining must be supplemented by immunohistochemical studies. The aetiology is unknown, the pathogenesis is poorly understood, and the 5-year survival rate rarely exceeds 30%. In most cases, oral mucosal melanoma arises from epithelial melanocytes in the basal layer of the epithelium and less frequently from immature melanocytes arrested in the lamina propria. In both cases the melanocytes undergo malignant transformation, invade deeper tissues, and metastasize to regional lymph nodes and to distant sites. Very rarely metastasis from skin melanoma may give rise to oral mucosal melanoma that may be mistaken for primary oral mucosal melanoma. The pathogenesis of oral mucosal melanoma is complex involving multiple interactions between cytogenetic factors including dysregulation of the cKit signalling pathways, cell cycle, apoptosis, and cell-to-cell interactions on the one hand and melanin itself, melanin intermediates, and local microenvironmental agents regulating melanogenesis on the other hand. The detailed mechanisms that initiate the malignant transformation of oral melanocytes and thereafter sustain and promote the process of melanomagenesis are unknown. PMID:28638859

Disseminated Acanthamoeba Infection Presenting With Cutaneous Lesions in an Immunocompromised Patient: A Case Report, Review of Histomorphologic Findings, and Potential Diagnostic Pitfalls.

PubMed

Morrison, Annie O; Morris, Robert; Shannon, Amie; Lauer, Scott R; Guarner, Jeannette; Kraft, Colleen S

2016-02-01

Free-living amoebas are exceedingly rare causes of cutaneous infections and present unique diagnostic and therapeutic challenges. We describe a case of disseminated acanthamoebiasis with cutaneous manifestations and summarize additional diagnostic, prognostic, and therapeutic highlights. A 58-year-old man with relapsed chronic lymphocytic leukemia had several weeks of progressive, painful ulcerations on the forehead, arms, abdomen, and thighs. A biopsy was performed for histopathologic evaluation. The biopsy specimen showed inflammatory infiltrate with abscess formation involving the epidermis, dermis, and subcutis. Scattered cells showed nuclei with a prominent central karyosome, dispersed chromatin, and either abundant foamy basophilic cytoplasm or two well-demarcated cytoplasmic walls. Acanthamoeba species was confirmed by polymerase chain reaction from the formalin-fixed, paraffin-embedded tissue. Cutaneous lesions from acanthamoebiasis are exceptionally rare but should be included in the differential diagnosis of necrotic cutaneous lesions in immunocompromised patients. Although infrequently encountered, pathologists need to be aware of the morphologic features of free-living amoebas. Immunohistochemical and molecular studies can confirm the diagnosis. Multiagent treatment regimens, when initiated empirically, have been more successful than single-agent regimens, but infections involving the central nervous system are almost universally fatal. © American Society for Clinical Pathology, 2016. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com.

Acute compartment syndrome caused by uncontrolled hypothyroidism.

PubMed

Modi, Anar; Amin, Hari; Salzman, Matthew; Morgan, Farah

2017-06-01

Acute compartment syndrome is increased tissue pressure exceeding perfusion pressure in a closed compartment resulting in nerve and muscle ischemia. Common precipitating causes are crush injuries, burns, substance abuse, osseous or vascular limb trauma. This is a case of 42year old female with history of hypothyroidism who presented to emergency room with acute onset of severe pain and swelling in right lower extremity. Physical examination was concerning for acute compartment syndrome of right leg which was confirmed by demonstration of elevated compartmental pressures. No precipitating causes were readily identified. Further laboratory testing revealed uncontrolled hypothyroidism. Management included emergent fasciotomy and initiating thyroid hormone replacement. This case represents a rare association between acute compartment syndrome and uncontrolled hypothyroidism. We also discuss the pathogenesis of compartment syndrome in hypothyroid patients and emphasize the importance of evaluating for less common causes, particularly in setting of non-traumatic compartment syndrome. Copyright © 2016 Elsevier Inc. All rights reserved.

Sexual Homicide by Older Male Offenders.

PubMed

Myers, Wade C; Chan, Heng Choon Oliver; Mariano, Timothy Y; Safarik, Mark E; Geberth, Vernon J

2017-07-01

Recent research has expanded our understanding of sexual homicide offenders (SHOs). However, little exists beyond case reports for older SHOs. We characterized male SHOs ≥ 55 years, comparing them to typical adult male SHOs who are in their 20s. Analysis of 37 years (1976-2012) of US Supplementary Homicide Reports data provided a large SHO sample (N = 3453). Three case reports provide clinical context for the diverse nature and patterns of older SHOs. Only 32 older male SHOs and no older female SHOs were identified. Murders by older SHOs accounted for only 0.5% of US sexual homicides. Unlike typical SHOs that generally target young adult females, over two-thirds of older SHO victims were ≥40 years, and one-third were ≥55 years. Sexual homicides by older SHOs, like sexual homicide in general, decreased over the study period. These crimes, while exceedingly rare, do occur, warranting special consideration. © 2017 American Academy of Forensic Sciences.

Colonoscopy-associated pneumothorax: a case of tension pneumothorax and review of the literature.

PubMed

Zeno, Brian R; Sahn, Steven A

2006-09-01

A 64-year-old woman presented with severe abdominal pain and was found to have a large fecolith in the sigmoid colon with resulting bowel obstruction. During a therapeutic colonoscopy, she developed severe shortness of breath and hypoxia, and was found to have a tension pneumothorax. We review the potential mechanisms by which pneumothorax may occur following colonoscopy. In addition, the eight previously published cases are reviewed. Pneumothorax, with or without pneumomediastinum, can occur through a variety of mechanisms following colonoscopy. Although rarely reported, this may represent an underappreciated complication and should be fully investigated in the appropriate setting. Colonoscopy, an exceedingly common procedure, will continue to increase with the aging population. As a result, tension pneumothorax can have a profound effect on the patient outcome and therefore physicians, both gastroenterologists and pulmonologists, should be aware of all the potential problems with this procedure.

Epidemiological Evaluation of Head and Neck Sarcomas in Iran (the Study of 105 Cases Over 13 Years).

PubMed

Alishahi, Batoul; Kargahi, Neda; Homayouni, Solmaz

2015-08-01

Head and neck sarcomas are exceedingly rare and they include 4% - 10% of all sarcomas and less than 1% of all neoplasm of head and neck. The aim of this study is to evaluate the epidemiological characteristics of head and neck sarcomas of patients in Isfahan, Iran. In this retrospective study, from the 16000 patients whose files were evaluated, the total number of 105 head and neck sarcomas were collected. They were evaluated with due attention to age, gender of the patients and the most common location of the lesion. From the total number of 105 (0.6%) patients with sarcomas, 56 were men (53.33%) and 49 women (46.66%). The most common head and neck sarcomas among this population were Osteosarcoma (32 cases, 30.47%), Chondrosarcoma (14 cases, 13.33%), and Ewing sarcoma (11 cases, 10.47%).The most common soft tissue sarcoma was Rabdomiosarcoma. Mandible was the most common location for these lesions. In this study, the hard tissue sarcomas were more prevalent than soft tissue ones. Hence, special attention should be paid to the patients when being diagnosed.

Inverting papilloma of the temporal bone: Report of four new cases and systematic review of the literature.

PubMed

Carlson, Matthew L; Sweeney, Alex D; Modest, Mara C; Van Gompel, Jamie J; Haynes, David S; Neff, Brian A

2015-11-01

Inverting papillomas (IPs) are benign locally invasive tumors that most commonly present within the sinonasal cavity. Temporal bone involvement is exceedingly rare, with fewer than 30 cases reported within the English literature to date. Case series and systematic review of the literature. Four consecutive subjects with temporal bone inverting papilloma (TBIP) were treated, and an additional 28 previously published cases were identified in the literature. Main outcome measures were disease presentation, diagnostic evaluation, management strategy, and outcome. A total of 32 cases were analyzed. The median age at diagnosis was 54 years (mean 54.1; range 19-81 years). Nineteen (59%) patients had synchronous or metachronous sinonasal IP, whereas 13 (41%) had isolated temporal bone disease without sinus involvement. Over half of the patients undergoing microsurgical resection experienced at least one recurrence. Compared to patients with a history of sinus IP, subjects with primary TBIP were younger at time of presentation (44 vs. 58 years; P=0.012); were more commonly female (62% vs. 32%; P=0.15); and were less likely to have intracranial spread (8% vs. 26%; P=0.36), cranial neuropathy (8% vs. 26%; P=0.36), human papillomavirus positivity (11% vs. 57%; P=0.11), or associated carcinoma (0% vs. 47%; P=0.004). Inverting papilloma of the lateral skull base is rare and can pose a significant therapeutic challenge. Primary lesions of the temporal bone appear to follow a less aggressive clinical course when compared to those arising in association with sinonasal disease. Gross total resection is the preferred method of treatment, when feasible, given the high rate of recurrence with subtotal resection and risk of associated malignancy. 4. © 2015 The American Laryngological, Rhinological and Otological Society, Inc.

Adenomyosis with extensive glandular proliferation simulating infiltrating malignancy on magnetic resonance imaging.

PubMed

Funaki, Kaoru; Fukunishi, Hidenobu; Maeda, Tetsuo; Ohbayashi, Chiho; Yamaguchi, Satoshi

2011-05-01

We report a case of multicystic adenomyosis, which is an exceedingly rare benign tumor. The patient complained of an irregular menstrual cycle and abnormal genital bleeding that gradually increased in amount and frequency. The patient finally became severely anemic, and a hysterectomy was therefore performed. T2-weighted magnetic resonance imaging (MRI) indicated hyperplasia of the endometrium, with a myometrial lesion, where a high signal intensity multicystic mass was observed. The preoperative diagnosis was complicated by confusing MRI results. Postoperative macroscopic examination revealed a villous endometrium and a myometrium thickened with multiple small cysts containing serous transparent fluid. The final diagnosis, based on the hysterectomy specimen, was adenomyosis coexisting with simple endometrial hyperplasia. The MRI and positron emission tomography images are presented.

Extraordinarily Large Renal Cell Carcinoma With Metasynchronous Neuroendocrine Tumor of the Ileocecal Valve: A Rare Presentation of Disease.

PubMed

Edwards, Daniel C; Gitman, Robert; May, Noah R; Amster, Melanie I

2017-01-01

A 71-year-old female presented with a large, protuberant abdominal mass, and was found to have both a left renal mass and a biopsy-proven neuroendocrine tumor of the ileocecal valve. Ultimately, right hemicolectomy revealed a well-differentiated and low-grade neuroendocrine tumor of the ileocecal valve, whereas left radical nephrectomy revealed a 23 cm × 22 cm × 15 cm renal cell carcinoma, chromophobe-type (RCC-CT) weighing 3564 g. RCC-CT represents a small portion of diagnosed RCC, and generally portends a more favorable prognosis than other variants. Modern reports of renal tumors exceeding 20 cm are exceedingly rare. In spite of massive size, favorable histology may allow for surgical cure. Copyright © 2016 Elsevier Inc. All rights reserved.

Assessment of Changes in Cloud Microphysical Properties and Rainfall in the Southeast Atlantic During the ORACLES 2016 Deployment

NASA Astrophysics Data System (ADS)

Diamond, M. S.; Dzambo, A.; L'Ecuyer, T.; Wood, R.; Durden, S. L.; Sy, O. O.; Tanelli, S.; Freitag, S.; Howell, S. G.; Smirnow, N.; Small Griswold, J. D.; Heikkila, A.

2017-12-01

Complex interactions between aerosol particles and clouds are the largest source of uncertainty in present-day radiative forcing and future projections of anthropogenic climate change. Unlike that of well-mixed greenhouse gases, the pattern of forcing for aerosol-cloud interactions (ACI) is regionally heterogeneous; one region of particular interest is the southeast Atlantic Ocean (SEA) off the western coast of Africa. During the southern African biomass burning (BB) season from July to October, a persistent layer of BB aerosol has been observed overlying one of the world's three semi-permanent stratocumulus (Sc) cloud decks. The vertical distribution of smoke over the SEA region remains poorly understood, particularly how much BB aerosol mixes into the Sc deck, which alters the clouds' microphysical properties. To investigate the effects of BB aerosols over the SEA Sc deck, we utilize data from the Airborne Third Generation Precipitation Radar (APR-3), an assortment of cloud probes, the Hawaii Group for Environmental Aerosol Research (HIGEAR) nephelometer, and other in-situ instruments on the P-3 aircraft during NASA's ObseRvations of Aerosols above CLouds and their intEractionS (ORACLES) 2016 campaign. Nearly all clouds observed in this experiment have a cloud top altitude of 1.5 km or less, with cloud top reflectivities rarely exceeding -15 dBZ. Two representative flights, the Aug. 31 and Sept. 6 missions, have cloud droplet number concentration (CDNC) values approximately between 250 and 350 per cubic centimeter (cc), with values exceeding 400/cc near the coast. Retrieved rainfall estimates suggest intermittent drizzle production occurs but rarely exceeds 0.1 mm h-1 further into the BB layer, and any drizzle production corresponds to CDNC values of approximately 300/cc or less. These two particular flights show that, when CDNC exceeds 400/cc, clouds drizzle less than 1% of the time. The distance between the Sc deck and BB layer is computed. Although a majority of cases show the Sc deck and BB layer are in contact, CDNC is not primarily controlled by this "gap" distance, suggesting that BB layer-Sc deck contact is not sufficient enough to explain cloud microphysical variability in the SEA region. Trajectory analyses of air masses are also presented to highlight underlying meteorological controls.

Penetrating Brain Injury after Suicide Attempt with Speargun: Case Study and Review of Literature

PubMed Central

Williams, John R.; Aghion, Daniel M.; Doberstein, Curtis E.; Cosgrove, G. Rees; Asaad, Wael F.

2014-01-01

Penetrating cranial injury by mechanisms other than gunshots are exceedingly rare, and so strategies and guidelines for the management of PBI are largely informed by data from higher-velocity penetrating injuries. Here, we present a case of penetrating brain injury by the low-velocity mechanism of a harpoon from an underwater fishing speargun in an attempted suicide by a 56-year-old Caucasian male. The case raised a number of interesting points in management of low-velocity penetrating brain injury (LVPBI), including benefit in delaying foreign body removal to allow for tamponade; the importance of history-taking in establishing the social/legal significance of the events surrounding the injury; the use of cerebral angiogram in all cases of PBI; advantages of using dual-energy CT to reduce artifact when available; and antibiotic prophylaxis in the context of idiosyncratic histories of usage of penetrating objects before coming in contact with the intracranial environment. We present here the management of the case in full along with an extended discussion and review of existing literature regarding key points in management of LVPBI vs. higher-velocity forms of intracranial injury. PMID:25071701

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.

Solitary liver metastasis from follicular variant papillary thyroid carcinoma: A case report and literature review

PubMed Central

Djenic, Brano; Duick, Daniel; Newell, James O.; Demeure, Michael J.

2014-01-01

Introduction Papillary (PTC) and follicular (FTC) thyroid carcinomas, together known as differentiated thyroid carcinomas (DTC), are among the most curable of cancers. Sites of metastases from FTC are usually osseous and those from PTC are in regional nodal basins and the lungs. Visceral metastases are rare and when they do occur, they tend do so in multiple sites. We present the case of a patient with a follicular variant of PTC and a solitary metastasis to the liver then review the relevant literature. Presentation of case An otherwise healthy 68-year-old woman was diagnosed with follicular variant papillary thyroid cancer in 2003 and subsequently underwent thyroidectomy. The patient’s endocrinologist conducted surveillance of her thyroid cancer. In 2012, due to rise in thyroglobulin, a whole body radioiodine scan was obtained which revealed an iodine-avid left liver lobe mass. Three cycles of radioiodine ablation therapy were unsuccessful and eventually the patient was referred for surgical resection. Metastatic evaluation including a PET scan was negative with the exception of an isolated enhancing 4 cm mass in segment 4B of the liver. Anatomic segmental resection of liver was performed without complications. Intraoperative ultrasonography was used to guide resection of the liver mass. Pathology reports confirmed metastatic follicular variant of PTC. Surgical margins were free of tumor. Patient was discharged home and is doing well one year after surgery. The latest thyroglobulin level was undetectable. Discussion Post-operative surveillance by PCP, endocrinologist or surgeon for patients with thyroid carcinoma should be performed routinely. If identified, a solitary liver metastasis from primary thyroid carcinoma should be considered for surgical resection. Due to sparse data available in literature, collecting more data to establish algorithms for treatment of such rare metastatic cancers may be able to aid physicians to achieve better outcomes. Conclusion Rare distant sites of metastases from DTC include eyes, pharynx, skin, muscle, ovaries, adrenal glands, kidneys, esophagus, pancreas and liver. Isolated, resectable liver metastases from PTC are exceedingly rare. Literature review revealed only 10 reported cases of liver metastases from DTC. As in our patient, solitary liver metastasis from PTC should be considered for surgical resection which offers the best chance for prolonged survival. PMID:25536153

Intramedullary Recurrence of a Thoracic Meningioma-Presentation of an Unusual Case and Review of the Literature.

PubMed

Piazza, Matthew A; Ramayya, Ashwin G; Geiger, Geoffrey A; Alonso-Basanta, Michelle; Nasrallah, MacLean P; Welch, William C; Ozturk, Ali K

2016-08-01

Spinal meningiomas are typically extra-axial, slow-growing, benign tumors that arise from the arachnoid cap cells. Intramedullary spinal meningiomas are exceedingly rare with few cases reported in the literature. A 64-year-old man with a history of grade I thoracic meningioma at the T4 level resected initially in 1989 and who required reoperation in 2013 for intradural, extramedullary recurrence of tumor presented again in 2015 with gait difficulty. Magnetic resonance imaging revealed a soft tissue mass at the T3 to T4 levels on the left side of the canal that was mildly enhancing on T1 contrasted sequences. The patient was taken to the operating room, where a purely intramedullary recurrence was discovered without extramedullary extension or a dural-based attachment. The intramedullary tumor was completely resected, and postoperatively the patient recovered well and was at his neurologic baseline. The patient ultimately underwent proton beam radiotherapy because this tumor, although benign, had recurred twice. Intramedullary spinal meningiomas, particularly intramedullary low-grade recurrence of a previously extramedullary tumor, are rare phenomena. Although the pathogenic mechanisms are not well understood, intramedullary recurrence as described in this patient may reflect extrinsic factors related to prior surgical resections in addition to histologic progression. When operating on recurrent extramedullary lesions, aggressive arachnoid dissection may predispose patients to unusual patterns of recurrence. Copyright © 2016 Elsevier Inc. All rights reserved.

Surrogate endpoints in oncology: when are they acceptable for regulatory and clinical decisions, and are they currently overused?

PubMed

Kemp, Robert; Prasad, Vinay

2017-07-21

Surrogate outcomes are not intrinsically beneficial to patients, but are designed to be easier and faster to measure than clinically meaningful outcomes. The use of surrogates as an endpoint in clinical trials and basis for regulatory approval is common, and frequently exceeds the guidance given by regulatory bodies. In this article, we demonstrate that the use of surrogates in oncology is widespread and increasing. At the same time, the strength of association between the surrogates used and clinically meaningful outcomes is often unknown or weak. Attempts to validate surrogates are rarely undertaken. When this is done, validation relies on only a fraction of available data, and often concludes that the surrogate is poor. Post-marketing studies, designed to ensure drugs have meaningful benefits, are often not performed. Alternatively, if a drug fails to improve quality of life or overall survival, market authorization is rarely revoked. We suggest this reliance on surrogates, and the imprecision surrounding their acceptable use, means that numerous drugs are now approved based on small yet statistically significant increases in surrogates of questionable reliability. In turn, this means the benefits of many approved drugs are uncertain. This is an unacceptable situation for patients and professionals, as prior experience has shown that such uncertainty can be associated with significant harm. The use of surrogate outcomes should be limited to situations where a surrogate has demonstrated robust ability to predict meaningful benefits, or where cases are dire, rare or with few treatment options. In both cases, surrogates must be used only when continuing studies examining hard endpoints have been fully recruited.

Transverse colon cancer occurring at a colostomy site 35 years after colostomy: a case report.

PubMed

Maeda, Chiyo; Hidaka, Eiji; Shimada, Mari; Shimada, Shoji; Nakahara, Kenta; Takayanagi, Daisuke; Takehara, Yusuke; Mukai, Shumpei; Sawada, Naruhiko; Ishida, Fumio; Kudo, Shin-ei

2015-05-06

Carcinomas occurring at colostomy sites are rare, and most of these are metachronous colorectal cancers. The median time between colostomy and development of a carcinoma at a colostomy site is 22 years, which exceeds the length of the recommended follow-up period. We report a rare case of a carcinoma of the transverse colon occurring at a colostomy site in a patient without a history of colorectal cancer. An 89-year-old woman presented with a tumor occurring at a colostomy site. Thirty-five years previously, she had undergone a transverse loop colostomy for an iatrogenic colon perforation that occurred during left ureteral lithotomy. Upon physical examination, the patient had a hard nodule measuring 3 cm at the colostomy site. A biopsy of the nodule suggested adenocarcinoma, and the preoperative diagnosis was transverse colon cancer. A laparotomy was performed via a peristomal incision with 5-mm skin margins, and the tumor was covered by a surgical glove to avoid any tumor seeding. The colon was separated from the tumor by 5-cm margins, and the specimen was removed en bloc. An end colostomy was constructed to a new site on the right side of the abdomen. The deficit in the abdominal wall was repaired, and the skin was closed via a purse-string suture. The final diagnosis of the stoma tumor was transverse colon cancer (T2, N0, M0, stage I). One year and five months after surgery, there was no evidence of recurrence. The occurrence of carcinomas at colostomy sites in patients without a history of colorectal cancer is rare. It is important to train ostomates to monitor the stoma for possible tumor recurrence.

Delayed hyperbaric oxygen therapy for air emboli after open heart surgery: case report and review of a success story.

PubMed

Niyibizi, Eva; Kembi, Guillaume Elyes; Lae, Claude; Pignel, Rodrigue; Sologashvili, Tornike

2016-12-05

The current case describes a rare diagnosis of iatrogenic air emboli after elective cardiopulmonary bypass that was successfully treated with delayed hyperbaric oxygen therapy, with good clinical evolution in spite of rare complications. A 35 years old male was admitted to the intensive care unit (ICU) for post-operative management after being placed on cardiopulmonary bypass (CPB) for an elective ventricular septal defect closure and aortic valvuloplasty. The patient initially presented with pathologically late awakening and was extubated 17 h after admission. Neurologic clinical status after extubation showed global aphasia, mental slowness and spatio-temporal disorientation. The injected cerebral CT scan was normal; the EEG was inconclusive (it showed metabolic encephalopathy without epileptic activity); and the cerebral MRI done 48 h after surgery showed multiple small subcortical acute ischemic lesions, mainly on the left fronto- parieto- temporo-occipital lobes. He was taken for hyperbaric oxygen therapy (HOT) over 54 h after cardiac surgery. The first session ended abruptly after 20 min when the patient suffered a generalised tonico-clonic seizure, necessitating a moderately rapid decompression, airway management, and antiepileptic treatment. In total, the patient received 7 HOT sessions over 6 days. He demonstrated full neurological recovery at 4 weeks and GOS (Glasgow Outcome Scale) of 5 out of 5 even after a long delay in initial management. Convulsions are a rare complication of HOT either due to reperfusion syndrome or hyperoxic toxicity and can be managed. Prior imaging by MRI or tympanic paracentesis (myringotomy) should not add further delay of treatment. HOT should be initiated upon late awakening and/or neurologic symptoms after CPB heart surgery, after exclusion of formal counter-indications, even if the delay exceeds 48 h.

Symptomatic Hypercalcemia in a Patient with B-cell Chronic Lymphocytic Leukemia - A Case Report and Review of the Literature.

PubMed

Koutroumpakis, Efstratios; Lobe, Montgomery; McCarthy, Lezah; Mehdi, Syed

Hypercalcemia due to malignancy is well described in the literature and a common paraneoplastic finding in certain solid tumors. Hematologic malignancies, however, are less frequently associated with hypercalcemia with the exception of myelomas and T-cell lymphomas. This case report describes a patient with B-cell chronic lymphocytic leukemia (B-CLL) who developed symptomatic hypercalcemia. None of the pathogenetic mechanisms of malignancy-associated hypercalcemia already described in the literature could explain the pathogenesis of hypercalcemia in our patient. Calcium levels were normalized after initial treatment and remained within normal limits following treatment of the underlying B-CLL. The follow-up period was 26 months. The normalization of calcium levels was closely associated with the drop in the absolute lymphocyte count. Symptomatic hypercalcemia in B-CLL is exceedingly rare and only documented a few times in the literature. Hypercalcemia, in the present case, was not caused by any of the mechanisms already described in the literature and responded well to treatment of the underlying B-CLL. Copyright © 2016 International Institute of Anticancer Research (Dr. John G. Delinassios), All rights reserved.

Pitfalls in the diagnosis and management of inguinal lymphogranuloma venereum: important lessons from a case series.

PubMed

Oud, Emerentiana Veronica; de Vrieze, Nynke Hesselina Neeltje; de Meij, Arjan; de Vries, Henry John C

2014-06-01

Current lymphogranuloma venereum (LGV) guidelines mainly focus on anorectal infections. Inguinal LGV infections have been rare in the current epidemic among men who have sex with men (MSM), but might require a different approach not yet recommended in current guidelines for the treatment and diagnosis of LGV. We describe 4 inguinal LGV cases. Three MSM developed inguinal LGV infection several weeks after a previous consultation, of which two had received azithromycin after being notified for LGV. Three failed the recommended 21 days doxycycline treatment. These inguinal LGV cases highlight 3 pitfalls in the current standard management of LGV: (1) Urethral chlamydia infections in MSM can be caused by LGV biovars that in contrast to non-LGV biovars require prolonged antibiotic therapy. (2) The recommended one gram azithromycin contact treatment seems insufficient to prevent established infections. (3) Inguinal LGV may require prolonged courses of doxycycline, exceeding the currently advised 21 days regimen. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://group.bmj.com/group/rights-licensing/permissions.

Aneurysm of the intradural artery of Adamkiewicz treated with muslin wrapping: technical case report.

PubMed

Vishteh, A G; Brown, A P; Spetzler, R F

1997-01-01

An exceedingly rare, isolated spinal arterial aneurysm and its management are presented. A 30-year-old man who presented with severe lower back pain and headache underwent a computed tomographic study of his head that disclosed nothing abnormal and a lumbar puncture that revealed bloody, xanthochromic cerebrospinal fluid. The findings from cerebral angiography were normal, and the results from spinal angiography were consistent with a diagnosis of an aneurysm of the artery of Adamkiewicz. A transthoracic approach with a partial T11 vertebrectomy gained exposure to this anteriorly located lesion. A fusiform aneurysm of the intradural portion of the artery of Adamkiewicz was discovered. Excision of the aneurysm with a vascular bypass was deemed impossible. The lesion was treated with muslin wrapping. One year after surgery, the patient remains at his baseline neurological condition. A review of the literature revealed only one other reported case of a ruptured aneurysm of the artery of Adamkiewicz, which was discovered postmortem. Therefore, this case represents the first report of a diagnosed and treated artery of Adamkiewicz aneurysm.

210Po in Nevada groundwater and its relation to gross alpha radioactivity

USGS Publications Warehouse

Seiler, R.L.

2011-01-01

Polonium-210 (210Po) is a highly toxic alpha emitter that is rarely found in groundwater at activities exceeding 1 pCi/L. 210Po activities in 63 domestic and public-supply wells in Lahontan Valley in Churchill County in northern Nevada, United States, ranged from 0.01 ± 0.005 to 178 ± 16 pCi/L with a median activity of 2.88 pCi/L. Wells with high 210Po activities had low dissolved oxygen concentrations (less than 0.1 mg/L) and commonly had pH greater than 9. Lead-210 activities are low and aqueous 210Po is unsupported by 210Pb, indicating that the 210Po is mobilized from aquifer sediments. The only significant contributors to alpha particle activity in Lahontan Valley groundwater are 234/238U, 222Rn, and 210Po. Radon-222 activities were below 1000 pCi/L and were uncorrelated with 210Po activity. The only applicable drinking water standard for 210Po in the United States is the adjusted gross alpha radioactivity (GAR) standard of 15 pCi/L. 210Po was not volatile in a Nevada well, but volatile 210Po has been reported in a Florida well. Additional information on the volatility of 210Po is needed because GAR is an inappropriate method to screen for volatile radionuclides. About 25% of the samples had 210Po activities that exceed the level associated with a lifetime total cancer risk of 1× 10−4 (1.1 pCi/L) without exceeding the GAR standard. In cases where the 72-h GAR exceeds the uranium activity by more than 5 to 10 pCi/L, an analysis to rule out the presence of 210Po may be justified to protect human health even though the maximum contaminant level for adjusted GAR is not exceeded.

210Po in nevada groundwater and its relation to gross alpha radioactivity.

PubMed

Seiler, Ralph L

2011-01-01

Polonium-210 ((210) Po) is a highly toxic alpha emitter that is rarely found in groundwater at activities exceeding 1 pCi/L. (210) Po activities in 63 domestic and public-supply wells in Lahontan Valley in Churchill County in northern Nevada, United States, ranged from 0.01 ± 0.005 to 178 ± 16 pCi/L with a median activity of 2.88 pCi/L. Wells with high (210) Po activities had low dissolved oxygen concentrations (less than 0.1 mg/L) and commonly had pH greater than 9. Lead-210 activities are low and aqueous (210) Po is unsupported by (210) Pb, indicating that the (210) Po is mobilized from aquifer sediments. The only significant contributors to alpha particle activity in Lahontan Valley groundwater are (234/238) U, (222) Rn, and (210) Po. Radon-222 activities were below 1000 pCi/L and were uncorrelated with (210) Po activity. The only applicable drinking water standard for (210) Po in the United States is the adjusted gross alpha radioactivity (GAR) standard of 15 pCi/L. (210) Po was not volatile in a Nevada well, but volatile (210) Po has been reported in a Florida well. Additional information on the volatility of (210) Po is needed because GAR is an inappropriate method to screen for volatile radionuclides. About 25% of the samples had (210) Po activities that exceed the level associated with a lifetime total cancer risk of 1× 10(-4) (1.1 pCi/L) without exceeding the GAR standard. In cases where the 72-h GAR exceeds the uranium activity by more than 5 to 10 pCi/L, an analysis to rule out the presence of (210) Po may be justified to protect human health even though the maximum contaminant level for adjusted GAR is not exceeded. Journal compilation © 2010 National Ground Water Association. No claim to original US government works.

Athletes and the Aorta: Normal Adaptations and the Diagnosis and Management of Pathology.

PubMed

Stephen Hedley, J; Phelan, Dermot

2017-10-09

Over a hundred years ago, physicians first recognized that participation in regular, vigorous training resulted in enlargement of the heart. Since that time, the term "athlete's heart" has entered the medical lexicon as a global expression encompassing the electrical, functional, and morphological adaptations that develop in response to physical training. Exercise-induced adaptations of the aorta, which is also exposed to large hemodynamic stresses during prolonged endurance exercise or resistance training, are less well recognized. Young athletes tend to have slightly larger aortas than their sedentary counterparts; however, this rarely exceeds normal ranges for the general population. A systematic approach is advised when presented with an athlete with aortic enlargement. The size of the aorta needs to be first put in the context of the athlete's age, sex, size, and sporting endeavors; however, even in the largest young athletes, the aortic root rarely exceeds 4 cm in men or 3.4 cm in women. A comprehensive evaluation is advised which includes a detailed family history and a thorough physical examination evaluating for signs of any defined connective tissue disorder associated with aortopathy. Downstream testing is then tailored for the individual and may include further tomographic imaging, opthalmology review, and genetic testing. This should ideally be performed at a specialist center. Management of athletes with an aortopathy includes tailoring athletic activity, medical management with strict impulse control, and, in some cases, prophylactic surgery. The issue of sporting eligibility should be individualized and if disqualification is necessary, this should be undertaken by a sports cardiologist or an expert in aortic disease with experience in dealing with an athletic population.

Epidemiological Evaluation of Head and Neck Sarcomas in Iran (the Study of 105 Cases Over 13 Years)

PubMed Central

Alishahi, Batoul; Kargahi, Neda; Homayouni, Solmaz

2015-01-01

Background: Head and neck sarcomas are exceedingly rare and they include 4% - 10% of all sarcomas and less than 1% of all neoplasm of head and neck. Objectives: The aim of this study is to evaluate the epidemiological characteristics of head and neck sarcomas of patients in Isfahan, Iran. Patients and Methods: In this retrospective study, from the 16000 patients whose files were evaluated, the total number of 105 head and neck sarcomas were collected. They were evaluated with due attention to age, gender of the patients and the most common location of the lesion. Results: From the total number of 105 (0.6%) patients with sarcomas, 56 were men (53.33%) and 49 women (46.66%). The most common head and neck sarcomas among this population were Osteosarcoma (32 cases, 30.47%), Chondrosarcoma (14 cases, 13.33%), and Ewing sarcoma (11 cases, 10.47%).The most common soft tissue sarcoma was Rabdomiosarcoma. Mandible was the most common location for these lesions. Conclusions: In this study, the hard tissue sarcomas were more prevalent than soft tissue ones. Hence, special attention should be paid to the patients when being diagnosed. PMID:26478791

[Amyotrophic neuralgia associated with bilateral phrenic paralysis treated with non-invasive mechanical ventilation].

PubMed

García García, María Del Carmen; Hernández Borge, Jacinto; Antona Rodríguez, María José; Pires Gonçalves, Pedro; García García, Gema

2015-09-07

Amyotrophic neuralgia is an uncommon neuropathy characterized by severe unilateral shoulder pain. Isolated or concomitant involvement of other peripheral motor nerves depending on the brachial plexus such as phrenic or laryngeal nerves is unusual(1). Its etiology is unknown, yet several explanatory factors have been proposed. Phrenic nerve involvement, either unilateral or bilateral, is exceedingly rare. Diagnosis relies on anamnesis, functional and imaging investigations and electromyogram. We report the case of a 48-year-old woman with a past history of renal transplantation due to proliferative glomerulonephritis with subsequent transplant rejection, who was eventually diagnosed with amyotrophic neuralgia with bilateral phrenic involvement, and who required sustained non-invasive mechanical ventilation. Copyright © 2015 Elsevier España, S.L.U. All rights reserved.

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.

The Late Jurassic Pterosaur Rhamphorhynchus, a Frequent Victim of the Ganoid Fish Aspidorhynchus?

PubMed Central

Frey, Eberhard; Tischlinger, Helmut

2012-01-01

Associations of large vertebrates are exceedingly rare in the Late Jurassic Solnhofen Limestone of Bavaria, Southern Germany. However, there are five specimens of medium-sized pterosaur Rhamphorhynchus that lie adjacent to the rostrum of a large individual of the ganoid fish Aspidorhynchus. In one of these, a small leptolepidid fish is still sticking in the esophagus of the pterosaur and its stomach is full of fish debris. This suggests that the Rhamphorhynchus was seized during or immediately after a successful hunt. According to the fossil record, Rhamphorhynchus frequently were accidentally seized by large Aspidorhnychus. In some cases the fibrous tissue of the wing membrane got entangled with the rostral teeth such that the fish was unable to get rid of the pterosaur. Such encounters ended fatally for both. Intestinal contents of Aspidorhynchus-type fishes are known and mostly comprise fishes and in one single case a Homoeosaurus. Obviously Rhamphorhynchus did not belong to the prey spectrum of Aspidorhynchus. PMID:22412850

46 CFR 151.10-20 - Hull construction.

Code of Federal Regulations, 2010 CFR

2010-10-01

... reactions (if applicable) shall be determined. The hull bending stress shall not exceed the applicable... hull. In such case, the hull stress shall not exceed either 50 percent of the minimum ultimate tensile... such case, the hull stress shall not exceed the percentage stress values prescribed in § 151.10-20(b)(2...

46 CFR 151.10-20 - Hull construction.

Code of Federal Regulations, 2012 CFR

2012-10-01

... reactions (if applicable) shall be determined. The hull bending stress shall not exceed the applicable... hull. In such case, the hull stress shall not exceed either 50 percent of the minimum ultimate tensile... such case, the hull stress shall not exceed the percentage stress values prescribed in § 151.10-20(b)(2...

Estimating soil moisture exceedance probability from antecedent rainfall

NASA Astrophysics Data System (ADS)

Cronkite-Ratcliff, C.; Kalansky, J.; Stock, J. D.; Collins, B. D.

2016-12-01

The first storms of the rainy season in coastal California, USA, add moisture to soils but rarely trigger landslides. Previous workers proposed that antecedent rainfall, the cumulative seasonal rain from October 1 onwards, had to exceed specific amounts in order to trigger landsliding. Recent monitoring of soil moisture upslope of historic landslides in the San Francisco Bay Area shows that storms can cause positive pressure heads once soil moisture values exceed a threshold of volumetric water content (VWC). We propose that antecedent rainfall could be used to estimate the probability that VWC exceeds this threshold. A major challenge to estimating the probability of exceedance is that rain gauge records are frequently incomplete. We developed a stochastic model to impute (infill) missing hourly precipitation data. This model uses nearest neighbor-based conditional resampling of the gauge record using data from nearby rain gauges. Using co-located VWC measurements, imputed data can be used to estimate the probability that VWC exceeds a specific threshold for a given antecedent rainfall. The stochastic imputation model can also provide an estimate of uncertainty in the exceedance probability curve. Here we demonstrate the method using soil moisture and precipitation data from several sites located throughout Northern California. Results show a significant variability between sites in the sensitivity of VWC exceedance probability to antecedent rainfall.

Child dermoid cyst mimicking a craniopharyngioma: the benefit of MRI T2-weighted diffusion sequence.

PubMed

Amelot, Aymeric; Borha, Alin; Calmon, Raphael; Barbet, Patrick; Puget, Stephanie

2018-02-01

Brain dermoid cysts are very rare lesions. Although benign, these cysts may be associated with devastating complications due to mass effect or meningitis. The discovery of completely asymptomatic dermoid cysts in the pediatric population is exceedingly rare. Despite the advances in imaging modalities, it sometimes remains difficult to exclude the differential diagnosis of craniopharyngioma. We describe a 12-year-old boy addressed for suspicion of craniopharyngioma diagnosed by decreased visual acuity, bitemporal hemianopia and a CT scan showing a large hypodense suprasellar lesion with intralesional calcifications. Despite the unusual localization and size of this lesion, the absence of dermal sinus commonly found, and before visualizing a hyperintense mass on MRI-diffusion, the diagnosis of craniopharyngioma was ruled out in favor of a dermoid cyst. Radical excision was performed. In the suprasellar area, craniopharyngioma and dermoid cyst may have very similar radiological aspects: low density masses on CT scan and a hyperintense signal on T1-weighted MRI sequences with a variable signal on T2-weighted sequences. Hitherto, only two cases in literature have described suprasellar dermoid cyst. Their initial diagnosis was facilitated by the presence of a dermal sinus.

Transient diabetes insipidus in a post-partum woman with pre-eclampsia associated with residual placental vasopressinase activity.

PubMed

Rodrigo, Natassia; Hocking, Samantha

2018-01-01

This case illustrates the exceedingly rare phenomenon of transient diabetes insipidus, in association with pre-eclampsia, occurring in the post-partum period following an in vitro fertilisation pregnancy, in an otherwise well 48-year-old lady. Diabetes insipidus can manifest during pregnancy, induced by increased vasopressinase activity secreted by placental trophoblasts and usually manifests in the third trimester. This presentation elucidates not only the intricate balance between the physiology of pregnancy and hormonal homeostasis, but also the importance of post-partum care as the physiological changes of pregnancy still hold pathological potential in the weeks immediately following delivery. Diabetes insipidus (DI) is a rare complication of pregnancy occurring in 1 in 30 000 pregnancies.It is associated with excessive vasopressinase activity, secreted by placental trophoblasts, which increases the rate of degradation of anti-diuretic hormone.It is responsive to synthetic desmopressin 1-deanimo-8-d-arginine vasopressin as this form is not degraded by placental vasopressinase.Vasopressinase is proportional to placental weight, which is increased in pregnancies conceived with assisted reproductive techniques including in vitro fertilisation.Vasopressinase-induced DI is associated with pre-eclampsia.

42 CFR 422.270 - Incorrect collections of premiums and cost-sharing.

Code of Federal Regulations, 2012 CFR

2012-10-01

...) Means amounts that- (A) Exceed the limits approved under § 422.262; (B) In the case of an MA private fee-for-service plan, exceed the MA monthly basic beneficiary premium or the MA monthly supplemental premium submitted under § 422.262; and (C) In the case of an MA MSA plan, exceed the MA monthly...

42 CFR 422.270 - Incorrect collections of premiums and cost-sharing.

Code of Federal Regulations, 2013 CFR

2013-10-01

...) Means amounts that- (A) Exceed the limits approved under § 422.262; (B) In the case of an MA private fee-for-service plan, exceed the MA monthly basic beneficiary premium or the MA monthly supplemental premium submitted under § 422.262; and (C) In the case of an MA MSA plan, exceed the MA monthly...

42 CFR 422.270 - Incorrect collections of premiums and cost-sharing.

Code of Federal Regulations, 2014 CFR

2014-10-01

...) Means amounts that- (A) Exceed the limits approved under § 422.262; (B) In the case of an MA private fee-for-service plan, exceed the MA monthly basic beneficiary premium or the MA monthly supplemental premium submitted under § 422.262; and (C) In the case of an MA MSA plan, exceed the MA monthly...

42 CFR 422.270 - Incorrect collections of premiums and cost-sharing.

Code of Federal Regulations, 2010 CFR

2010-10-01

... that- (A) Exceed the limits approved under § 422.262; (B) In the case of an MA private fee-for-service plan, exceed the MA monthly basic beneficiary premium or the MA monthly supplemental premium submitted under § 422.262; and (C) In the case of an MA MSA plan, exceed the MA monthly beneficiary supplemental...

42 CFR 422.270 - Incorrect collections of premiums and cost-sharing.

Code of Federal Regulations, 2011 CFR

2011-10-01

... that- (A) Exceed the limits approved under § 422.262; (B) In the case of an MA private fee-for-service plan, exceed the MA monthly basic beneficiary premium or the MA monthly supplemental premium submitted under § 422.262; and (C) In the case of an MA MSA plan, exceed the MA monthly beneficiary supplemental...

A rare case of lateral sinus thrombosis with carotid space abscess.

PubMed

Singh, Gautam Bir; Rai, Anil K; Singh, Sarvejeet; Sinha, Mukul

2012-01-01

This case report describes a case of carotid space abscess secondary to lateral sinus thrombosis associated with internal jugular vein thrombosis. With this case, we illustrate a rare entity that presented in an extremely rare manner. To the authors knowledge such a case has not been previously reported.

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.

Endoscopic ultrasound-guided fine needle aspiration cytology diagnosis of solid pseudopapillary tumor of the pancreas: a report of 3 cases.

PubMed

Chatzipantelis, Paschalis; Salla, Charitini; Apostolou, George; Christodoulou, Lambrini; Kakiopoulos, George; Patralexis, Charalambos

2010-01-01

Solid pseudopapillary tumor of the pancreas (SPTP) is an exceedingly rare pancreatic tumor. We present the clinical, endoscopic ultrasound (EUS)-guided fine needle aspiration (FNA) cytologic features and immunohistochemical findings performed on cell blocks of 3 SPTPs. Three females (17-32 years old) were admitted to our hospital due to unexplained episodic abdominal pain. EUS confirmed the presence of a mass in the body and tail of the pancreas (2 cases) and in the head (1 case), with distinct borders and occassional dilation of the peripheral part of the pancreatic duct. EUS-FNA cytology specimens consisted of single cells and aggregates of uniform polyhedral cells, forming branching papillary clusters with delicate fibrovascular cores and nuclear overlapping (2 cases) and glandlike structures (1 case). Variable hyaline, myxoid stromal elements and naked capillaries were also seen. The cells had bland nuclear features, small nucleoli, nuclear grooves in some of them and focally cytoplasmic projections. Mitoses and necrosis were not observed. The immunohistochemistry on cell blocks revealed: vimentin+ (3 cases), CA19.9+ (2 cases), cytokeratin 7+ (focal, intensive, 1 case), synaptophysin+ (1 case), MUC1+ (focal, intensive, 1 case), EMA+ (diffuse weak, 1 case), a1-antitrypsin and a1-antichymotrypsin+ (focal intensive, 2 cases), progesterone+ (1 case), chromogranin-A- (3 cases) and NSE- (3 cases). Cytologic and immunohistochemical findings were strongly suggestive of SPTP. Surgical resection confirmed the diagnosis in all cases. EUS-FNA cytology features and immunohistochemistry provide the diagnosis of SPTP with accuracy.

Endometriosis-associated hydrocele of the canal of Nuck with immunohistochemical confirmation: a case report.

PubMed

Okoshi, Kae; Mizumoto, Masaki; Kinoshita, Koichi

2017-12-21

The canal of Nuck is an embryological vestige of the processus vaginalis, and presents a potential site for endometriosis seeding. Hydroceles in this region are a rare cause of inguinal swelling in females. In addition, endometriosis localized to the canal of Nuck is exceedingly rare. A 44-year-old Japanese woman presented with a painful mass overlying her right pubis. She underwent surgery to completely excise the mass. During surgery, division of the external oblique aponeurosis revealed a cyst that occupied the inguinal canal and it adhered to the transverse fascia, inguinal ligament, and pubic bone. The cyst was dissected from the round ligament, and the defect in the internal inguinal ring was repaired and reinforced with mesh. On macroscopic examination, the cyst had a heterogeneous fibrous aspect with dark brown inclusions. Microscopic examination revealed that the cyst was tortuous, lined by mesothelial-like cells, and accompanied by partial subcapsular hemorrhage. Endometrium-like tissue was observed in the cystic wall. Immunohistochemical staining for podoplanin confirmed the mesothelial origin of the cyst-lining cells. The epithelial cells and stromal cells were positive for estrogen receptors. In this case of an endometriosis-associated hydrocele of the canal of Nuck, the mesothelial origin of the cyst-lining cells and endometriosis were confirmed by positive immunohistochemical staining for podoplanin and estrogen receptors, respectively. We determined that hydrocele resection and reinforcement of the anterior inguinal canal wall (if necessary) are appropriate treatments for this condition.

Central nervous system aspergillosis in an immunocompetent patient: cure in a hospice setting with very high-dose itraconazole.

PubMed

Palanisamy, Akilesh; Chao, Stephanie D; Fouts, Michelle; Kerr, Derek

2005-01-01

Aspergillosis of the central nervous system (CNS) is a rare condition with exceedingly high mortality. This study describes the case of an immunocompetent 42-year-old man with a history of intravenous drug use and hepatitis C who developed multiple Aspergillus lesions in the cerebellum. Despite neurosurgery and antifungal therapy with amphotericin B, he had a protracted hospital course with multiple complications, eventually developing cognitive and motor impairment due to progressive cerebellar lesions. After transfer to hospice and palliative care service, oral itraconazole was escalated to 1600 mg/day with the hope of palliating headache, nausea, and cognitive impairment. Remarkably, the patient stabilized and improved over time. After 14 months, this unprecedented high-dose regimen was discontinued, and the patient was discharged home with only mild cerebellar motor impairment.

Potential health risks from postulated accidents involving the Pu-238 RTG on the Ulysses solar exploration mission

NASA Technical Reports Server (NTRS)

Goldman, Marvin; Hoover, Mark D.; Nelson, Robert C.; Templeton, William; Bollinger, Lance; Anspaugh, Lynn

1991-01-01

Potential radiation impacts from launch of the Ulysses solar exploration experiment were evaluated using eight postulated accident scenarios. Lifetime individual dose estimates rarely exceeded 1 mrem. Most of the potential health effects would come from inhalation exposures immediately after an accident, rather than from ingestion of contaminated food or water, or from inhalation of resuspended plutonium from contaminated ground. For local Florida accidents (that is, during the first minute after launch), an average source term accident was estimated to cause a total added cancer risk of up to 0.2 deaths. For accidents at later time after launch, a worldwide cancer risk of up to three cases was calculated (with a four in a million probability). Upper bound estimates were calculated to be about 10 times higher.

A case report of the clear cell variant of gallbladder carcinoma.

PubMed

Maharaj, Ravi; Cave, Christo; Sarran, Kevin; Bascombe, Nigel; Dan, Dilip; Greaves, Wesley; Warner, Wayne A

2017-01-01

Clear cell gallbladder carcinoma accounts for less than 1% of all gallbladder malignancies and demonstrates its unique histopathological characteristics in patients with no prior medical illness or familial predisposition. Here we present a case of a 56-year-old female, with no prior medical conditions presented with a 2-month history of upper abdominal pain. Routine hematological and biochemical tests were unremarkable. An abdominal ultrasound revealed the presence of a gallbladder calculi, and a fundic mass while magnetic resonance cholangiopancreatography revealed a 8.0cm×3.5cm gallbladder mass. Computed tomography imaging excluded any distant haematogenous metastases. An open cholecystectomy with lymphadenectomy was proceeded by staging laparoscopy. Upon pathologic investigation, the morphologic and immunophenotypic features supported a diagnosis of clear cell variant of gallbladder carcinoma. Pathological prognostications for primary clear cell gall bladder carcinomas are not well defined due to the rarity of cases and possible misidentification as secondary metastases. Foci of adenocarcinoma within the tumor along with immunohistochemical staining probes can be informative in consideration of differential diagnosis. In these cases, clinical case management should be personalized for increased survival with the possible incorporation of next generation sequencing approaches to guide therapeutic algorithms. We discuss this exceedingly rare case of the clear cell variant of gallbladder carcinoma in detail, highlighting some of the diagnostic, and clinical challenges. Copyright © 2017 The Authors. Published by Elsevier Ltd.. All rights reserved.

Epstein-Barr virus associated acute hepatitis with cross-reacting antibodies to other herpes viruses in immunocompetent patients: report of two cases.

PubMed

Gupta, Ekta; Bhatia, Vikram; Choudhary, Aashish; Rastogi, Archana; Gupta, Naveen L

2013-03-01

Epstein-Barr virus (EBV) is the causative agent of infectious mononucleosis (IM) which is characterized by the triad of fever, sore throat, and lymphadenopathy. Self-limited, mild liver function test abnormalities are seen in IM. Acute hepatitis in primary EBV infection is uncommon. Serum transaminases are elevated but are less than fivefold the normal levels in most cases and rarely exceed 10 times the normal levels in primary EBV infections especially in elderly. Laboratory diagnosis of acute EBV infection is by serological assays confirming the presence of EBV viral capsid antigen (VCA) IgM antibodies. Due to antigenic cross-reactivity with Herpes viruses, serological assays lack specificity; hence specific molecular diagnostic methods are required for confirmation of the etiology. The present report describes two cases of acute hepatitis caused by infection with EBV which had indistinguishable clinical features and biochemical markers from acute hepatitis caused by hepatotropic viruses such as hepatitis viruses A-E. The diagnosis of infection by EBV was confirmed by detection of EBV DNA in blood of both the patients and EBV DNA in the liver tissue of one of the patients. Copyright © 2013 Wiley Periodicals, Inc.

Amlodipine induced plasma cell granuloma of the gingiva: A novel case report.

PubMed

Vishnudas, Bhandari; Sameer, Zope; Shriram, Bansode; Rekha, Kardile

2014-07-01

Drug-induced gingival overgrowth (DIGO) can be a serious concern for both patients and clinicians. DIGO is a well-documented side-effect of some pharmacologic agents, including, but not limited to, calcium channel blockers, phenytoin, and cyclosporine. Plasma cell granulomas (pseudotumors) are exceedingly rare, non-neoplastic, reactive tumor-like proliferation, primarily composed of plasma cells that manifest primarily in the lungs, but may occur in various anatomic locations. Intraoral plasma cell granulomas involving the lip, oral mucosa, tongue, and gingiva have been reported in the past. This is the first case report of amlodipine induced plasma cell granuloma of the gingiva in the medical literature presenting a 54 year-old female patient with hypertension, who received amlodipine (10 mg/day, single dose orally) for 2 years, sought medical attention because of developing maxillary anterior massive gingival overgrowth causing functional and esthetic problem, which was treated by excisional biopsy. Histologically, these lesions were composed of mature plasma cells, showing polyclonality for both lambda and kappa light chains and fibrovascular connective tissue stroma confirming a diagnosis of plasma cell granuloma. This case also highlights the need to biopsy for unusual lesions to rule out potential neoplasms.

Recurrent hemorrhage in hemangioblastoma involving the posterior fossa: Case report

PubMed Central

Marvin, Eric; Akhter, Asad S.; Coppens, Jeroen R.

2017-01-01

Background: Hemangioblastomas (HGBs) are the most common primary intra-axial posterior fossa tumor in adults. Although spontaneous hemorrhage of these tumors is exceedingly rare, despite their vascular nature, we describe a case of recurrent hemorrhage with associated tonsillar herniation, and demonstrate that a surgical approach can provide a suitable outcome. Case Description: A 54-year-old female with von Hippel-Lindau (VHL) syndrome presented with acute loss of consciousness and Glasgow Coma Scale (GCS) was 4. Computed tomographic (CT) images demonstrated large volume subarachnoid hemorrhage of the posterior fossa with intraventricular extension and intraparenchymal hemorrhage involving the right cerebellar tonsil. Magnetic resonance imaging (MRI) displayed three lesions in the posterior fossa, two near the hemorrhage site. Patient underwent suboccipital craniectomy with a decent recovery followed by radiosurgery as she refused resection. A second hemorrhage occurred ultimately prompting surgical resection of the three posterior fossa lesions, with a reasonable postoperative course. Conclusion: Hemorrhage of HGBs of the posterior fossa can present in conjunction of tonsillar herniation. Re-hemorrhage appears to be likely if prior acute hemorrhage has occurred. A stepwise approach of surgical decompression and resection may provide the best outcome. PMID:28713626

Glucose transporter type I deficiency (G1D) at 25 (1990–2015): Presumptions, facts and the lives of persons with this rare disease

PubMed Central

Pascual, Juan M.; Ronen, Gabriel M.

2015-01-01

As is often the case for rare diseases, the number of published reviews and case reports of Glucose transporter type I deficiency (G1D) approaches or exceeds that of original research. This can indicate medical interest, but also scientific stagnation. In assessing this state of affairs here, we focus not on what is peculiar or disparate about G1D, but on the assumptions that have reigned thus far undisputed, and critique them as a potential impediment to progress. To summarize the most common G1D phenotype, we trace the 25-year story of G1D in parallel with the natural history of one of two index patients, identified in 1990 by one of us (G.M.R.) and brought up to date by the other (J.M.P.) while later examining widely-repeated but little-scrutinized statements. Among them are those that pertain to assumptions about brain fuels; energy-failure; cerebrospinal glucose concentration; the purpose of ketogenic diet; the role of the defective blood brain barrier; genotype-phenotype correlations; a bewildering array of phenotypes; ictogenesis, seizures and the electroencephalogram; the use of mice to model the disorder; and what treatments may and may not be expected to accomplish. We reach the forgone conclusion that the proper study of mankind - and of one of its ailments (G1D) - is man itself (rather than mice, isolated cells or extrapolated inferences), and propose a framework for rigorous investigation that we hope will lead to a better understanding and to better treatments for this and for rare disorders in general. These considerations, together with experience drawn from other disorders, lead, as a logical consequence, to the nullification of the view that therapeutic development (i.e., trials) for rare diseases could or should be accelerated without the most vigorous scientific scrutiny: Trial and error constitute an inseparable couple, such that, at the present time, hastening the former is bound to precipitate the latter. PMID:26341673

Prenatal and Early Life Risk Factors of Schizophrenia

ERIC Educational Resources Information Center

Lattari, Fallon; Dragowski, Eliza A.

2011-01-01

Childhood-onset schizophrenia is an exceedingly rare mental illness whose complex, multifaceted behavioral presentation can disrupt child development and raise diagnostic and treatment difficulties for attending clinicians. The disorder, affecting one in 30,000 children, shares the same diagnostic criteria and symptoms as its adult counterpart,…

Iron overload patients with unknown etiology from national survey in Japan.

PubMed

Ikuta, Katsuya; Hatayama, Mayumi; Addo, Lynda; Toki, Yasumichi; Sasaki, Katsunori; Tatsumi, Yasuaki; Hattori, Ai; Kato, Ayako; Kato, Koichi; Hayashi, Hisao; Suzuki, Takahiro; Kobune, Masayoshi; Tsutsui, Miyuki; Gotoh, Akihiko; Aota, Yasuo; Matsuura, Motoo; Hamada, Yuzuru; Tokuda, Takahiro; Komatsu, Norio; Kohgo, Yutaka

2017-03-01

Transfusion is believed to be the main cause of iron overload in Japan. A nationwide survey on post-transfusional iron overload subsequently led to the establishment of guidelines for iron chelation therapy in this country. To date, however, detailed clinical information on the entire iron overload population in Japan has not been fully investigated. In the present study, we obtained and studied detailed clinical information on the iron overload patient population in Japan. Of 1109 iron overload cases, 93.1% were considered to have occurred post-transfusion. There were, however, 76 cases of iron overload of unknown origin, which suggest that many clinicians in Japan may encounter some difficulty in correctly diagnosing and treating iron overload. Further clinical data were obtained for 32 cases of iron overload of unknown origin; median of serum ferritin was 1860.5 ng/mL. As occurs in post-transfusional iron overload, liver dysfunction was found to be as high as 95.7% when serum ferritin levels exceeded 1000 ng/mL in these patients. Gene mutation analysis of the iron metabolism-related genes in 27 cases of iron overload with unknown etiology revealed mutations in the gene coding hemojuvelin, transferrin receptor 2, and ferroportin; this indicates that although rare, hereditary hemochromatosis does occur in Japan.

Adult-onset cerebello-brainstem dominant form of X-linked adrenoleukodystrophy presenting as multiple system atrophy: Case report and literature review

PubMed Central

Ogaki, Kotaro; Koga, Shunsuke; Aoki, Naoya; Lin, Wenlang; Suzuki, Kinuko; Ross, Owen A.; Dickson, Dennis W.

2015-01-01

X-linked adrenoleukodystrophy (X-ALD) is the most common peroxisomal disorder and is caused by ABCD1 mutations. A cerebello-brainstem dominant form that mainly involves the cerebellum and brainstem is summarized in a review of the literature, with autopsy confirmed cases exceedingly rare. We report a 69-year-old white man who was diagnosed with this rare disorder and describe neuropathologic, ultrastructural and genetic analyses. He did not have adrenal insufficiency or a family history of X-ALD or Addison’s disease. His initial symptom was temporary loss of eyesight at age 34 years. His major symptoms were chronic and progressive gait disorder, weakness in his lower extremities, and spasticity, as well as autonomic failure and cerebellar ataxia suggesting possible multiple system atrophy (MSA). He also had seizures, hearing loss, and sensory disturbances. His brain MRI showed no obvious atrophy or significant white matter pathology in cerebrum, brainstem or cerebellum. He died at age 69 years with a diagnosis of multiple system atrophy. Microscopic analysis showed mild, patchy myelin rarefaction with perivascular clusters of PAS-positive, CD68-positive macrophages in the white matter most prominent in the cerebellum and occipital lobe, but also affecting optic tract and internal capsule. Electron microscopy of cerebellar white matter showed cleft-like trilamellar cytoplasmic inclusions in macrophages typical of X-ALD, which prompted genetic analysis that revealed a novel ABCD1 mutation, p.R163G. Given the relatively mild pathological findings and long disease duration, it is likely that the observed pathology was the result of a slow and indolent disease process. We described a patient who had sporadic cerebello-brainstem dominant form of X-ALD with long clinical course, mild pathological findings, and an ABCD1 p.R163G substitution. We also review a total of 34 cases of adult-onset cerebello-brainstem dominant form of X-ALD. Although rare, X-ALD should be considered in the differential diagnosis of MSA. PMID:26227820

Rare variant association analysis in case-parents studies by allowing for missing parental genotypes.

PubMed

Li, Yumei; Xiang, Yang; Xu, Chao; Shen, Hui; Deng, Hongwen

2018-01-15

The development of next-generation sequencing technologies has facilitated the identification of rare variants. Family-based design is commonly used to effectively control for population admixture and substructure, which is more prominent for rare variants. Case-parents studies, as typical strategies in family-based design, are widely used in rare variant-disease association analysis. Current methods in case-parents studies are based on complete case-parents data; however, parental genotypes may be missing in case-parents trios, and removing these data may lead to a loss in statistical power. The present study focuses on testing for rare variant-disease association in case-parents study by allowing for missing parental genotypes. In this report, we extended the collapsing method for rare variant association analysis in case-parents studies to allow for missing parental genotypes, and investigated the performance of two methods by using the difference of genotypes between affected offspring and their corresponding "complements" in case-parent trios and TDT framework. Using simulations, we showed that, compared with the methods just only using complete case-parents data, the proposed strategy allowing for missing parental genotypes, or even adding unrelated affected individuals, can greatly improve the statistical power and meanwhile is not affected by population stratification. We conclude that adding case-parents data with missing parental genotypes to complete case-parents data set can greatly improve the power of our strategy for rare variant-disease association.

FORECASTING REGIONAL TO GLOBAL PLANT MIGRATION IN RESPONSE TO CLIMATE CHANGE

EPA Science Inventory

The rate of future climate change is likely to exceed the migration rates of most plant species. The replacement of dominant species by locally rare species may require decades, and extinctions may occur when plant species cannot migrate fast enough to escape the consequences of...

A chemical-spectrochemical method for the determination of rare earth elements and thorium in cerium minerals

USGS Publications Warehouse

Rose, H.J.; Murata, K.J.; Carron, M.K.

1954-01-01

In a combined chemical-spectrochemical procedure for quantitatively determining rare earth elements in cerium minerals, cerium is determined volumetrically, a total rare earths plus thoria precipitate is separated chemically, the ceria content of the precipitate is raised to 80??0 percent by adding pure ceria, and the resulting mixture is analyzed for lanthanum, praseodymium, neodymium, samarium, gadolinium, yttrium, and thorium spectrochemically by means of the d.c. carbon arc. Spectral lines of singly ionized cerium are used as internal standard lines in the spectrochemical determination which is patterned after Fassel's procedure [1]. Results of testing the method with synthetic mixtures of rare earths and with samples of chemically analyzed cerium minerals show that the coefficient of variation for a quadruplicate determination of any element does not exceed 5??0 (excepting yttrium at concentrations less than 1 percent) and that the method is free of serious systematic error. ?? 1954.

Locally infiltrative inflammatory fibroid polyp of the ileum: report of a case showing transmural proliferation.

PubMed

Tajima, Shogo; Koda, Kenji

2016-06-10

Morphologically, an inflammatory fibroid polyp (IFP) is usually centred in the submucosa. Extension of an IFP to the subserosa with destruction of the muscularis propria is exceedingly rare. Herein, we describe a 70-year-old woman who presented with right lower abdominal pain but was finally diagnosed with an IFP. Contrast-enhanced computed tomography revealed a target-like structure with a hypovascular mass at the leading edge, which was consistent with intussusception due to a tumour. Following surgery, the resected specimen displayed a mass measuring 4 × 3 × 3 cm that was protruding into the lumen. Microscopically, the mass was centred in the submucosa, extending up to the mucosal surface and down to the subserosa and serosa. The muscularis mucosae and muscularis propria were destroyed focally. A PDGFRA gene mutation in exon 2 (1837_1851 del) that was found in this case, as well as a highly infiltrative growth pattern, strongly supported the neoplastic nature of IFP. © The Author(s) 2016. Published by Oxford University Press and Sixth Affiliated Hospital of Sun Yat-Sen University.

Primary Synovial Sarcoma of the Thyroid Gland: Case Report and Review of the Literature

PubMed Central

Boudin, Laurys; Fakhry, Nicolas; Chetaille, Bruno; Perrot, Delphine; Nguyen, Anh Tuan; Daidj, Nassima; Guiramand, Jérôme; Sarran, Anthony; Moureau-Zabotto, Laurence; Bertucci, François

2014-01-01

Synovial sarcoma (SVS) of the thyroid gland is exceedingly rare. We report the case of a 55-year-old man with a rapidly growing 7-cm neck mass. Because of suspicion of anaplastic thyroid carcinoma, a total thyroidectomy was planned, without preoperative cytology. During surgery, the tumor ruptured, leading to fragmented and incomplete resection. The morphological and immunohistochemical aspects suggested thyroid SVS, which was confirmed by fluorescent in situ hybridization (SYT gene rearrangement). The patient experienced immediate local relapse in close contact with large vessels and the thyroid cartilage and was referred to our institution. Doxorubicin-ifosfamide chemotherapy led to a minor response that authorized secondary conservative surgery. Because of microscopically incomplete resection, adjuvant radiotherapy was chosen and is ongoing 10 months after initial surgery. The prognosis of thyroid SVS is associated with a high risk for local and metastatic relapses. Pretreatment diagnosis is fundamental and may benefit from molecular analysis. Margin-free monobloc surgical excision is the best chance for cure, but adjuvant chemotherapy and radiotherapy deserve to be discussed. PMID:24575008

Primary synovial sarcoma of the thyroid gland: case report and review of the literature.

PubMed

Boudin, Laurys; Fakhry, Nicolas; Chetaille, Bruno; Perrot, Delphine; Nguyen, Anh Tuan; Daidj, Nassima; Guiramand, Jérôme; Sarran, Anthony; Moureau-Zabotto, Laurence; Bertucci, François

2014-01-01

Synovial sarcoma (SVS) of the thyroid gland is exceedingly rare. We report the case of a 55-year-old man with a rapidly growing 7-cm neck mass. Because of suspicion of anaplastic thyroid carcinoma, a total thyroidectomy was planned, without preoperative cytology. During surgery, the tumor ruptured, leading to fragmented and incomplete resection. The morphological and immunohistochemical aspects suggested thyroid SVS, which was confirmed by fluorescent in situ hybridization (SYT gene rearrangement). The patient experienced immediate local relapse in close contact with large vessels and the thyroid cartilage and was referred to our institution. Doxorubicin-ifosfamide chemotherapy led to a minor response that authorized secondary conservative surgery. Because of microscopically incomplete resection, adjuvant radiotherapy was chosen and is ongoing 10 months after initial surgery. The prognosis of thyroid SVS is associated with a high risk for local and metastatic relapses. Pretreatment diagnosis is fundamental and may benefit from molecular analysis. Margin-free monobloc surgical excision is the best chance for cure, but adjuvant chemotherapy and radiotherapy deserve to be discussed.

31 CFR 29.342 - Computed annuity exceeds the statutory maximum.

Code of Federal Regulations, 2010 CFR

2010-07-01

... 31 Money and Finance: Treasury 1 2010-07-01 2010-07-01 false Computed annuity exceeds the... of the Amount of Federal Benefit Payments § 29.342 Computed annuity exceeds the statutory maximum. (a) In cases in which the total computed annuity exceeds the statutory maximum: (1) Federal Benefit...

Adrenal oncocytic phaeochromocytoma with putative adverse histologic features: a unique case report and review of the literature.

PubMed

Kasem, Kais; Lam, Alfred K-Y

2014-12-01

Oncocytic phaeochromocytomas are exceedingly rare tumours. To date, there are three reported cases in the literature. This report describes a case of adrenal oncocytic phaeochromocytoma with unique features and malignant potential in a 68-year-old man. The patient presented with an incidental non-functional mass discovered on routine radiological investigation, which was subsequently excised. Histologically, the tumour cells showed oncocytic features with high-grade nuclear abnormalities and foci of extension to the peri-adrenal fat. Immunohistochemistry performed was positive for chromogranin, CD56, S-100 and p53 and negative for inhibin, HMB-45, EMA, AE1/AE3, Cam 5.2 and calretinin. Electron microscopy showed electron dense granules of neurosecretory type, which confirmed the diagnosis. The malignant potential of the tumour was assessed on available histologic scoring systems, which demonstrated a high malignant potential. However, no recurrence was detected after 5 years of follow-up. Compared to all the previously reported cases of oncocytic phaeochromocytoma, this patient was the oldest on presentation, was the only case with identified high malignant potential and has the longest follow-up. A review of the literature showed that all the oncocytic phaeochromocytomas reported were non-functional, non-metastasizing and were described in women. To conclude, oncocytic phaeochromocytoma should be in the differential diagnoses of oncocytic tumours of the adrenal gland. Additional studies are needed to predict the behaviour of this entity.

Malaria rapid diagnostic test transport and storage conditions in Burkina Faso, Senegal, Ethiopia and the Philippines

PubMed Central

2012-01-01

Background As more point of care diagnostics become available, the need to transport and store perishable medical commodities to remote locations increases. As with other diagnostics, malaria rapid diagnostic tests (RDTs) must be highly reliable at point of use, but exposure to adverse environmental conditions during distribution has the potential to degrade tests and accuracy. In remote locations, poor quality diagnostics and drugs may have significant negative health impact that is not readily detectable by routine monitoring. This study assessed temperature and humidity throughout supply chains used to transport and store health commodities, such as RDTs. Methods Monitoring devices capable of recording temperature and humidity were deployed to Burkina Faso (8), Senegal (10), Ethiopia (13) and the Philippines (6) over a 13-month period. The devices travelled through government supply chains, usually alongside RDTs, to health facilities where RDTs are stored, distributed and used. The recording period spanned just over a year, in order to avoid any biases related to seasonal temperature variations. Results In the four countries, storage and transport temperatures regularly exceeded 30.0°C; maximum humidity level recorded was above 94% for the four countries. In three of the four countries, temperatures recorded at central storage facilities exceeded pharmaceutical storage standards for over 20% of the time, in another case for a majority of the time; and sometimes exceeded storage temperatures at peripheral sites. Conclusions Malaria RDTs were regularly exposed to temperatures above recommended limits for many commercially-available RDTs and other medical commodities such as drugs, but rarely exceeded the recommended storage limits for particular products in use in these countries. The results underline the need to select RDTs, and other commodities, according to expected field conditions, actively manage the environmental conditions in supply chains in tropical and sub-tropical climates. This would benefit from a re-visit of current global standards on stability of medical commodities based in tropical and sub-tropical climatic zones. PMID:23217104

Malaria rapid diagnostic test transport and storage conditions in Burkina Faso, Senegal, Ethiopia and the Philippines.

PubMed

Albertini, Audrey; Lee, Evan; Coulibaly, Sheick Oumar; Sleshi, Markos; Faye, Babacar; Mationg, Mary Lorraine; Ouedraogo, Kadi; Tsadik, Abeba G; Feleke, Sendeaw Maksha; Diallo, Ibrahima; Gaye, Oumar; Luchavez, Jennifer; Bennett, Jessica; Bell, David

2012-12-06

As more point of care diagnostics become available, the need to transport and store perishable medical commodities to remote locations increases. As with other diagnostics, malaria rapid diagnostic tests (RDTs) must be highly reliable at point of use, but exposure to adverse environmental conditions during distribution has the potential to degrade tests and accuracy. In remote locations, poor quality diagnostics and drugs may have significant negative health impact that is not readily detectable by routine monitoring. This study assessed temperature and humidity throughout supply chains used to transport and store health commodities, such as RDTs. Monitoring devices capable of recording temperature and humidity were deployed to Burkina Faso (8), Senegal (10), Ethiopia (13) and the Philippines (6) over a 13-month period. The devices travelled through government supply chains, usually alongside RDTs, to health facilities where RDTs are stored, distributed and used. The recording period spanned just over a year, in order to avoid any biases related to seasonal temperature variations. In the four countries, storage and transport temperatures regularly exceeded 30.0°C; maximum humidity level recorded was above 94% for the four countries. In three of the four countries, temperatures recorded at central storage facilities exceeded pharmaceutical storage standards for over 20% of the time, in another case for a majority of the time; and sometimes exceeded storage temperatures at peripheral sites. Malaria RDTs were regularly exposed to temperatures above recommended limits for many commercially-available RDTs and other medical commodities such as drugs, but rarely exceeded the recommended storage limits for particular products in use in these countries. The results underline the need to select RDTs, and other commodities, according to expected field conditions, actively manage the environmental conditions in supply chains in tropical and sub-tropical climates. This would benefit from a re-visit of current global standards on stability of medical commodities based in tropical and sub-tropical climatic zones.

An improved exceedance theory for combined random stresses

NASA Technical Reports Server (NTRS)

Lester, H. C.

1974-01-01

An extension is presented of Rice's classic solution for the exceedances of a constant level by a single random process to its counterpart for an n-dimensional vector process. An interaction boundary, analogous to the constant level considered by Rice for the one-dimensional case, is assumed in the form of a hypersurface. The theory for the numbers of boundary exceedances is developed by using a joint statistical approach which fully accounts for all cross-correlation effects. An exact expression is derived for the n-dimensional exceedance density function, which is valid for an arbitrary interaction boundary. For application to biaxial states of combined random stress, the general theory is reduced to the two-dimensional case. An elliptical stress interaction boundary is assumed and the exact expression for the density function is presented. The equations are expressed in a format which facilitates calculating the exceedances by numerically evaluating a line integral. The behavior of the density function for the two-dimensional case is briefly discussed.

Economic analysis of an intraoperative cell salvage service.

PubMed

Szpisjak, Dale F; Potter, Paul S; Capehart, Bruce P

2004-01-01

In the United States, the cost of erythrocyte transfusion exceeds 1.3 billion dollars annually. The fear of viral disease transmission popularized intraoperative salvage to reduce the use of banked blood. Although the economics of this technique have been questioned, the financial variables in providing an intraoperative autotransfusion service have not been analyzed. We designed mathematical models to determine the most cost-effective strategy based on hospital caseload. Four models were analyzed with a spreadsheet to project costs of an intraoperative autotransfusion service when fully or partially outsourced, performed by a full-time technician employee, or performed by a cross-trained employee. The Partially Outsourced model was more economical than the Fully Outsourced model when the annual caseload exceeded 185 cases. The New Employee model became more economical than the Fully Outsourced model when the annual caseload exceeded 110 cases. The Cross-Trained model was the most economical when annual caseload exceeded 55 cases. Cross-training an employee as a cell salvage technician is more economical than outsourcing when caseload exceeds 55 per year.

[Viral retinitis following intravitreal triamcinolone injection].

PubMed

Zghal, I; Malek, I; Amel, C; Soumaya, O; Bouguila, H; Nacef, L

2013-09-01

Necrotizing viral retinitis is associated with infection by the Herpes family of viruses, especially herpes simplex virus (HSV), varicella zoster virus (VZV) and occasionally cytomegalovirus (CMV). When the diagnosis is suspected clinically, antiviral therapy must be instituted immediately. We report the case of a patient presenting with necrotizing viral retinitis 3 months following intravitreal injection of triamcinolone acetonide for diabetic macular edema. Fluorescein angiography demonstrated a superior temporal occlusive vasculitis. A diagnostic anterior chamber paracentesis was performed to obtain deoxyribo-nucleic acid (DNA) for a polymerase chain reaction (PCR) test for viral retinitis. PCR was positive for CMV. The patient was placed on intravenous ganciclovir. CMV retinitis is exceedingly rare in immunocompetent patients; however, it remains the most common cause of posterior uveitis in immunocompromised patients. The incidence of this entity remains unknown. Local immunosuppression, the dose and the frequency of injections may explain the occurrence of this severe retinitis. Copyright © 2013. Published by Elsevier Masson SAS.

Intramuscular atypical lipomatous tumor/well-differentiated liposarcoma of the pectoralis major masquerading as a breast tumor: management and review of the literature.

PubMed

Salemis, Nikolaos S

2015-02-01

Atypical lipomatous tumor (ALT)/well-differentiated liposarcoma (WDL) of the pectoralis major muscle is an exceedingly rare clinical entity. We describe here a case of intramuscular ALT/WDL of the pectoralis major muscle in a female patient who presented with clinical manifestations of a rapidly growing breast tumor. Diagnostic evaluation and management of the patient are discussed along with a review of the relevant literature. We conclude that although the clinical examination may be inconclusive, the mammogram and especially the magnetic resonance imaging scan can precisely delineate the anatomic location and extent of the ALT/WDL of the pectoralis major muscle, thus allowing a correct preoperative diagnosis and adequate preoperative surgical planning. Complete resection is the treatment of choice for ALT/WDL. Long-term follow-up, however, remains mandatory because of the risk of local recurrence or delayed dedifferentiation.

Intramuscular Atypical Lipomatous Tumor/Well-Differentiated Liposarcoma of the Pectoralis Major Masquerading as a Breast Tumor: Management and Review of the Literature

PubMed Central

Salemis, Nikolaos S.

2015-01-01

Atypical lipomatous tumor (ALT)/well-differentiated liposarcoma (WDL) of the pectoralis major muscle is an exceedingly rare clinical entity. We describe here a case of intramuscular ALT/WDL of the pectoralis major muscle in a female patient who presented with clinical manifestations of a rapidly growing breast tumor. Diagnostic evaluation and management of the patient are discussed along with a review of the relevant literature. We conclude that although the clinical examination may be inconclusive, the mammogram and especially the magnetic resonance imaging scan can precisely delineate the anatomic location and extent of the ALT/WDL of the pectoralis major muscle, thus allowing a correct preoperative diagnosis and adequate preoperative surgical planning. Complete resection is the treatment of choice for ALT/WDL. Long-term follow-up, however, remains mandatory because of the risk of local recurrence or delayed dedifferentiation. PMID:25692417

[Glandular papilloma of the right main bronchus. Detection of an exon 2 mutation of the KRAS gene (c.35G>A)].

PubMed

Wohlschläger, J; Welter, S; Stamatis, G; Theegarten, D; Hager, T; Mairinger, F; Worm, K; Schmid, K W; Müller, K M

2013-07-01

Benign epithelial tumors of the tracheobronchial system and the lungs are exceedingly rare. These entities encompass squamous and glandular papillomas (as well as their mixed forms) and adenomas (alveolar adenoma, papillary adenoma, salivary gland-like pleomorphic and mucinous adenomas and mucinous cystadenomas). These tumors are considered to be biologically benign neoplasms; however, they can pose considerable diagnostic difficulties, especially during frozen section evaluation, as they can mimic malignant tumors and in particular they can resemble well differentiated papillary adenocarcinomas. As a result of the extreme rarity of these tumors only a few descriptive diagnostic series exist and a systematic investigation including molecular data does not exist. This article presents the case of a 64-year-old patient with a glandular papilloma of the right main bronchus including the immunohistochemical and molecular work-up as well as a review of the current literature.

Bilateral tension pneumothorax resulting from a bicycle-to-bicycle collision.

PubMed

Edwin, Frank; Sereboe, Lawrence; Tettey, Mark Mawutor; Aniteye, Ernest; Bankah, Patrick; Frimpong-Boateng, Kwabena

2009-01-01

Bilateral tension pneumothorax occurring as a result of recreational activity is exceedingly rare. A 10-year-old boy with no previous respiratory symptoms was involved in a bicycle-to-bicycle collision during play. He was the only one hurt. A few hours later, he was rushed to the general casualty unit of the emergency department of our institution with respiratory distress, diminished bilateral chest excursions and diminished breath sounds. The correct diagnosis was made after a chest radiograph was obtained in the course of resuscitation at the casualty unit. Pleural space needle decompression was suggestive of tension only on the right. Bilateral tube thoracostomies provided effective relief. He was discharged from hospital after a week in excellent health. This case illustrates the need for children to have safety instruction to reduce the risks of recreational bicycling. Chest radiography may be needed to establish the diagnosis of bilateral tension pneumothorax. Needle thoracostomy decompression is not always effective.

Epidermotropic presentation by splenic B-cell lymphoma: The importance of clinical-pathologic correlation.

PubMed

Hedayat, Amin A; Carter, Joi B; Lansigan, Frederick; LeBlanc, Robert E

2018-04-01

There are exceedingly rare reports of patients with epidermotropic B-cell lymphomas. A subset presented with intermittent, variably pruritic papular eruptions and involvement of their spleens, peripheral blood and bone marrow at the time of diagnosis. Furthermore, some experienced an indolent course despite dissemination of their lymphomas. We report a 66-year-old woman with a 12-year history of intermittent eruptions of non-pruritic, salmon-colored papules on her torso and proximal extremities that occurred in winter and resolved with outdoor activity in spring. Skin biopsy revealed an epidermotropic B-cell lymphoma with a non-specific B-cell phenotype and heavy chain class switching with IgG expression. On workup, our patient exhibited mild splenomegaly and low-level involvement of her peripheral blood and bone marrow by a kappa-restricted B-cell population. A splenic B-cell lymphoma was diagnosed. Considering her longstanding history and absences of cytopenias, our patient has been followed without splenectomy or systemic therapy. Furthermore, the papules have responded dramatically to narrowband UVB. Our case and a review of similar rare reports aim to raise awareness among dermatopathologists and dermatologists of a clinically distinct and indolent subset of epidermotropic splenic lymphomas with characteristic clinical and histologic findings. © 2018 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

A Classification System to Guide Physical Therapy Management in Huntington Disease: A Case Series.

PubMed

Fritz, Nora E; Busse, Monica; Jones, Karen; Khalil, Hanan; Quinn, Lori

2017-07-01

Individuals with Huntington disease (HD), a rare neurological disease, experience impairments in mobility and cognition throughout their disease course. The Medical Research Council framework provides a schema that can be applied to the development and evaluation of complex interventions, such as those provided by physical therapists. Treatment-based classifications, based on expert consensus and available literature, are helpful in guiding physical therapy management across the stages of HD. Such classifications also contribute to the development and further evaluation of well-defined complex interventions in this highly variable and complex neurodegenerative disease. The purpose of this case series was to illustrate the use of these classifications in the management of 2 individuals with late-stage HD. Two females, 40 and 55 years of age, with late-stage HD participated in this case series. Both experienced progressive declines in ambulatory function and balance as well as falls or fear of falling. Both individuals received daily care in the home for activities of daily living. Physical therapy Treatment-Based Classifications for HD guided the interventions and outcomes. Eight weeks of in-home balance training, strength training, task-specific practice of functional activities including transfers and walking tasks, and family/carer education were provided. Both individuals demonstrated improvements that met or exceeded the established minimal detectible change values for gait speed and Timed Up and Go performance. Both also demonstrated improvements on Berg Balance Scale and Physical Performance Test performance, with 1 of the 2 individuals exceeding the established minimal detectible changes for both tests. Reductions in fall risk were evident in both cases. These cases provide proof-of-principle to support use of treatment-based classifications for physical therapy management in individuals with HD. Traditional classification of early-, mid-, and late-stage disease progression may not reflect patients' true capabilities; those with late-stage HD may be as responsive to interventions as those at an earlier disease stage.Video Abstract available for additional insights from the authors (see Supplemental Digital Content 1, available at: http://links.lww.com/JNPT/A172).

Solitary Fibrous Tumor of the Parotid Gland: A Case Report

PubMed Central

Yu, Ryan; Rebello, Ryan

2015-01-01

Introduction: Solitary fibrous tumor is a rare, mesenchymal neoplasm that has been reported in numerous sites. Occurrence in the parotid gland is exceedingly rare. Case Report: A 53-year-old man with a 2 cm solitary fibrous tumor of the left parotid gland, that was observed clinically and operatively and thought to be a neoplasm arising from Stensen's duct, is described. A pre-operative CT scan demonstrated a well-circumscribed, solid, avidly-enhancing nodule superficial to the masseter muscle, deep to the platysma, and intimately associated with the parotid duct. Multiple fine needle aspirations yielded scant fibrous tissue and lymphocytes. A superficial parotidectomy was performed. The histopathological and immunohistochemical findings were in keeping with solitary fibrous tumor, fibrous variant, with a low mitotic rate and a peripherally-entrapped parotid duct surrounded by abundant periductal collagen and lymphocytes. At a 2-year follow up, there was no evidence of tumor recurrence or metastasis. Conclusion: Solitary fibrous tumor should be suspected in the context of a slow-growing, well-circumscribed, solid, avidly-enhancing nodule of the parotid gland. Grossly intimate association with the parotid duct may reflect peripheral entrapment. Fine needle aspirations that predominantly yield collagen without spindle cell clusters should be correlated with clinical and radiological findings, as it is expected in tumor sampling of the fibrous variant. Although solitary fibrous tumor of the parotid gland usually exhibits benign behavior, it is best regarded as potentially malignant. Patient management and follow-up should be tailored to each individual and clinicopathological risk assessment of the recurrent/metastatic potential. PMID:26568946

Synthesis and Characterization of Heterobimetallic Iridium-Aluminum and Rhodium-Aluminum Complexes.

PubMed

Brewster, Timothy P; Nguyen, Tan H; Li, Zhongjing; Eckenhoff, William T; Schley, Nathan D; DeYonker, Nathan J

2018-02-05

We demonstrate the synthesis and characterization of a new class of late-transition-metal-aluminum heterobimetallic complexes via a novel synthetic pathway. Complexes of this type are exceedingly rare. Joint experimental and theoretical data sheds light on the electronic effect of ligands containing aluminum moieties on late-transition-metal complexes.

Erosion, sedimentation, and cumulative effects in the Northern Rocky Mountains

Treesearch

Walter F. Megahan; John G. King

2004-01-01

Erosion and sedimentation are natural geomorphic processes characterized by large temporal and spatial variability. Recent radionuclide studies suggest that rare episodic events, such as large wildfires, produce massive sediment yields over time scales of thousands of years, thereby causing long-term average sediment production to exceed present-day average erosion...

The Impatient Press: Placing Black Newspapers in the Ideologies of Black Progress.

ERIC Educational Resources Information Center

Caspari, Genevieve G.

Unlike its white counterpart, the black press has historically exceeded its role of information source. Specialized black media were founded to decry racial conflict and gain civil rights. Only rarely, and secondarily, have black papers achieved commercial success. The purposes of black papers have changed with the society they serve. Ideologies…

Autocorrelation structure of convective rainfall in semiarid-arid climate derived from high-resolution X-Band radar estimates

NASA Astrophysics Data System (ADS)

Marra, Francesco; Morin, Efrat

2018-02-01

Small scale rainfall variability is a key factor driving runoff response in fast responding systems, such as mountainous, urban and arid catchments. In this paper, the spatial-temporal autocorrelation structure of convective rainfall is derived with extremely high resolutions (60 m, 1 min) using estimates from an X-Band weather radar recently installed in a semiarid-arid area. The 2-dimensional spatial autocorrelation of convective rainfall fields and the temporal autocorrelation of point-wise and distributed rainfall fields are examined. The autocorrelation structures are characterized by spatial anisotropy, correlation distances 1.5-2.8 km and rarely exceeding 5 km, and time-correlation distances 1.8-6.4 min and rarely exceeding 10 min. The observed spatial variability is expected to negatively affect estimates from rain gauges and microwave links rather than satellite and C-/S-Band radars; conversely, the temporal variability is expected to negatively affect remote sensing estimates rather than rain gauges. The presented results provide quantitative information for stochastic weather generators, cloud-resolving models, dryland hydrologic and agricultural models, and multi-sensor merging techniques.

Extreme interplanetary rotational discontinuities at 1 AU

NASA Astrophysics Data System (ADS)

Lepping, R. P.; Wu, C.-C.

2005-11-01

This study is concerned with the identification and description of a special subset of four Wind interplanetary rotational discontinuities (from an earlier study of 134 directional discontinuities by Lepping et al. (2003)) with some "extreme" characteristics, in the sense that every case has (1) an almost planar current sheet surface, (2) a very large discontinuity angle (ω), (3) at least moderately strong normal field components (>0.8 nT), and (4) the overall set has a very broad range of transition layer thicknesses, with one being as thick as 50 RE and another at the other extreme being 1.6 RE, most being much thicker than are usually studied. Each example has a well-determined surface normal (n) according to minimum variance analysis and corroborated via time delay checking of the discontinuity with observations at IMP 8 by employing the local surface planarity. From the variance analyses, most of these cases had unusually large ratios of intermediate-to-minimum eigenvalues (λI/λmin), being on average 32 for three cases (with a fourth being much larger), indicating compact current sheet transition zones, another (the fifth) extreme property. For many years there has been a controversy as to the relative distribution of rotational (RDs) to tangential discontinuities (TDs) in the solar wind at 1 AU (and elsewhere, such as between the Sun and Earth), even to the point where some authors have suggested that RDs with large ∣Bn∣s are probably not generated or, if generated, are unstable and therefore very rare. Some of this disagreement apparently has been due to the different selection criteria used, e.g., some allowed eigenvalue ratios (λI/λmin) to be almost an order of magnitude lower than 32 in estimating n, usually introducing unacceptable error in n and therefore also in ∣Bn∣. However, we suggest that RDs may not be so rare at 1 AU, but good quality cases (where ∣Bn∣ confidently exceeds the error in ∣Bn∣) appear to be uncommon, and further, cases of large ∣Bn∣ may indeed be rare. Finally, the issue of estimating the number of RDs-to-TDs was revisited using the full 134 events of the original Lepping et al. (2003) study (which utilized the RDs' propagation speeds for this estimation, an unconventional approach) but now by considering only normal field components, the more conventional approach. This resulted in slightly different conclusions, depending on specific assumptions used, making the unconventional approach suspect.

Rare Disease Terminology and Definitions-A Systematic Global Review: Report of the ISPOR Rare Disease Special Interest Group.

PubMed

Richter, Trevor; Nestler-Parr, Sandra; Babela, Robert; Khan, Zeba M; Tesoro, Theresa; Molsen, Elizabeth; Hughes, Dyfrig A

2015-09-01

At present, there is no universal definition of rare disease. To provide an overview of rare disease definitions currently used globally. We systematically searched for definitions related to rare disease from organizations in 32 international jurisdictions. Descriptive statistics of definitions were generated and prevalence thresholds were calculated. We identified 296 definitions from 1109 organizations. The terms "rare disease(s)" and "orphan drug(s)" were used most frequently (38% and 27% of the definitions, respectively). Qualitative descriptors such as "life-threatening" were used infrequently. A prevalence threshold was specified in at least one definition in 88% of the jurisdictions. The average prevalence threshold across organizations within individual jurisdictions ranged from 5 to 76 cases/100,000 people. Most jurisdictions (66%) had an average prevalence threshold between 40 and 50 cases/100,000 people, with a global average of 40 cases/100,000 people. Prevalence thresholds used by different organizations within individual jurisdictions varied substantially. Across jurisdictions, umbrella patient organizations had the highest (most liberal) average prevalence threshold (47 cases/100,000 people), whereas private payers had the lowest threshold (18 cases/100,000 people). Despite variation in the terminology and prevalence thresholds used to define rare diseases among different jurisdictions and organizations, the terms "rare disease" and "orphan drug" are used most widely and the average prevalence threshold is between 40 and 50 cases/100,000 people. These findings highlight the existing diversity among definitions of rare diseases, but suggest that any attempts to harmonize rare disease definitions should focus on standardizing objective criteria such as prevalence thresholds and avoid qualitative descriptors. Copyright © 2015 International Society for Pharmacoeconomics and Outcomes Research (ISPOR). Published by Elsevier Inc. All rights reserved.

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.

Corneal ulcer due to a rare coelomycetes fungus Chaetomium strumarium: Case report and global review of Chaetomium keratomycosis.

PubMed

Reddy, Mamatha; Venugopal, Ramya; Prakash, Peralam Yegneswaran; Kamath, Yogish Subraya

2017-09-01

We present a rare case of corneal ulcer caused by a species of a coelomycetes fungus, Chaetomium strumarium. This fungal genus is a rare causative agent of keratomycosis, with only a handful of cases reported. The clinical presentation, investigative techniques, and preliminary management of our patient are reported. The cases reported in global literature are also summarized in a tabular form in the discussion.

The influence of lidocaine topical anesthesia during transesophageal echocardiography on blood methemoglobin level and risk of methemoglobinemia.

PubMed

Filipiak-Strzecka, Dominika; Kasprzak, Jarosław D; Wiszniewska, Marta; Walusiak-Skorupa, Jolanta; Lipiec, Piotr

2015-04-01

Methemoglobinemia is a relatively rare, but potentially life-threating medical condition, which may be induced by application of topical anaesthetic agents commonly used during endoscopic procedure. The aim of our study was to assess the influence of lidocaine used prior to transesophageal echocardiography (TEE) on the blood level of methemoglobin in vivo. Additionally we attempted to establish the occurrence rate of clinically evident lidocaine-induced methemoglobinemia on the basis of data collected in our institution. We retrospectively analyzed patient records from 3,354 TEEs performed in our echocardiographic laboratory over the course of 13 years in search for clinically evident methemoglobinemia cases. Additionally, 18 consecutive patients referred for TEE were included in the prospective part of our analysis. Blood samples were tested before and 60 min after pre-TEE lidocaine anesthesia application. Information concerning concomitant conditions and pharmacotherapy were also obtained. In 3,354 patients who underwent TEE in our institution no cases of clinically evident methemoglobinemia occurred. In the prospective part of the study, none of 18 patients [16 (89 %) men, mean age 63 ± 13] was diagnosed with either clinical symptoms of methemoglobinemia or exceeded normal blood concentration of methemoglobin. Initial mean methemoglobin level was 0.5 ± 0.1 % with mild, statistically (but not clinically) significant rise to 0.6 ± 0.1 % after 60 min (p = 0.02). Among the analyzed factors only the relation between the proton pump inhibitors intake and methemoglobin blood level rise was identified as statistically relevant (p = 0.03). In adults, pre-TEE lidocaine anesthesia with recommended dosage results in significant increase in methemoglobin blood level, which however does not exceed normal values and does not result in clinically evident methemoglobinemia.

Review of the risks and benefits of yellow fever vaccination including some new analyses.

PubMed

Monath, Thomas P

2012-04-01

The live, attenuated yellow fever (YF) 17D vaccine provides highly effective and durable immunity and is widely used for travelers to and residents of endemic areas of South America and Africa. Neurotropic and viscerotropic serious adverse events associated with these vaccines occur rarely, but YF 17D vaccine-associated viscerotropic disease (YEL-AVD) is notable for its lethality. There appear to be two distinct patterns of risk for YEL-AVD: the first in younger persons, particularly women, with defects in innate immunity, in whom the case-fatality rate is higher; and the second in elderly persons, particularly men with age-related immune senescence and a lower case-fatality rate. From 1990 to the present, the number of cases (n = 31) and deaths (n = 12) from YEL-AVD in travelers has exceeded the reports of YF (n = 6) acquired by natural infection, raising the question whether the risk of vaccination exceeds the benefit in travelers. To provide some guidance on this point, the rate of vaccine-related injury is compared with the rate of naturally acquired disease in a new analysis that estimates the immunologically susceptible denominator population in YF endemic and epidemic areas. For many years, the risk of vaccine-related illness and death was similar to the risk of illness and death from natural infection with YF in South America. Africa posed a substantially higher estimated risk of wild-type YF than vaccine-related injury. Multiple factors should be considered in making decisions about YF vaccination, including specific destination, season of the year, local evidence for YF transmission, likelihood of exposure to vector mosquitoes and individual risk factors for YEL-AVD, with the goal of increasing vaccine coverage for travel to high-risk areas and reducing unnecessary vaccination. Prospects for future, safer vaccines are also described.

Monomorphous Plurihormonal Pituitary Adenoma of Pit-1 Lineage in a Giant Adolescent with Central Hyperthyroidism.

PubMed

Pereira, Bernardo Dias; Raimundo, Luísa; Mete, Ozgur; Oliveira, Ana; Portugal, Jorge; Asa, Sylvia L

2016-03-01

Thyrotropin (TSH)-secreting pituitary adenomas are exceedingly rare at the pediatric age and no cases of co-secretion with other pituitary hormones in these tumors have been described in this age range. We present a case of a monomorphous plurihormonal pituitary adenoma that co-secreted TSH and GH in a pediatric patient. A 13-year-old male presented with increasing height velocity (17.75 cm/year, 9.55SD), weight loss, and visual impairment. Initial biochemical evaluations revealed secondary hyperthyroidism. A giant pituitary tumor compressing the surrounding structures was detected by magnetic resonance, and a transsphenoidal surgery was initially performed. Pathological examinations revealed an atypical, monomorphous plurihormonal Pit-1 lineage tumor with mixed features of silent subtype 3 adenoma and acidophil stem cell adenoma. In the postoperative period, secondary hyperthyroidism recurred with high levels of both GH and IGF1. In addition, due to tumor re-growth, a multimodality treatment plan was undertaken including surgery, somatostatin analogs, and radiotherapy. We report the first pediatric case of a plurihormonal TSH- and GH-secreting pituitary adenoma, further expanding the clinical manifestations of pediatric pituitary tumors. Comprehensive pathological evaluation and close follow-up surveillance are crucial to the prompt delivery of the best therapeutic options in the context of this particularly aggressive pituitary tumor.

Treatment of hypertriglyceridemia-induced acute pancreatitis with insulin

PubMed Central

Erkan, Nazif; Yakan, Savas; Yildirim, Mehmet; Carti, Erdem; Ucar, Deniz; Oymaci, Erkan

2015-01-01

Introduction Hypertriglyceridaemia (HT)-induced pancreatitis rarely occurs unless triglyceride levels exceed 1000 mg/dl. Hypertriglyceridaemia over 1,000 mg/dl can provoke acute pancreatitis (AP) and its persistence can worsen the clinical outcome. In contrast, a rapid decrease in triglyceride level is beneficial. Insulin-stimulated lipoprotein lipase is known to decrease serum triglyceride levels. However, their efficacy in HT-induced AP is not well documented. Aim To present 12 cases of AP successfully treated by insulin administration. Material and methods Three hundred and forty-three cases of AP were diagnosed at our clinic between 2005 and 2012. Twelve (3.5%) of these cases were HT-induced AP. Twelve patients who suffered HT-induced AP are reported. Initial blood triglyceride levels were above 1000 mg/dl. Besides the usual treatment of AP, insulin was administered intravenously in continuous infusion. The patients’ medical records were retrospectively evaluated in this study. Results Serum triglyceride levels decreased to < 500 mg/dl within 2–3 days. No complications of treatment were seen and good clinical outcome was observed. Conclusions Our results are compatible with the literature. Insulin may be used safely and effectively in HT-induced AP therapy. Administration of insulin is efficient when used to reduce triglyceride levels in patients with HT-induced AP. PMID:25960810

MANAGEMENT OF ENDOCRINE DISEASE: Arguments for the prolonged use of antithyroid drugs in children with Graves' disease.

PubMed

Léger, Juliane; Carel, Jean-Claude

2017-08-01

Graves' disease is an autoimmune disorder. It is the leading cause of hyperthyroidism, but is rare in children. Patients are initially managed with antithyroid drugs (ATDs), such as methimazole/carbimazole. A major disadvantage of treatment with ATD is the high risk of relapse, exceeding 70% of children treated for duration of 2 years, and the potential major side effects of the drug reported in exceptional cases. The major advantage of ATD treatment is that normal homeostasis of the hypothalamus-pituitary-thyroid axis may be restored, with periods of drug treatment followed by freedom from medical intervention achieved in approximately 40-50% of cases after prolonged treatment with ATD, for several years, in recent studies. Alternative ablative treatments such as radioactive iodine and, less frequently and mostly in cases of very high volume goiters or in children under the age of 5 years, thyroidectomy, performed by pediatric surgeons with extensive experience should be proposed in cases of non-compliance, intolerance to medical treatment or relapse after prolonged medical treatment. Ablative treatments are effective against hyperthyroidism, but they require the subsequent administration of levothyroxine throughout the patient's life. This review considers data relating to the prognosis for Graves' disease remission in children and explores the limitations of study designs and results; and the emerging proposal for management through the prolonged use of ATD drugs. © 2017 European Society of Endocrinology.

Perivascular Epithelioid Cell Tumor of Gastrointestinal Tract

PubMed Central

Lu, Biyan; Wang, Chenliang; Zhang, Junxiao; Kuiper, Roland P.; Song, Minmin; Zhang, Xiaoli; Song, Shunxin; van Kessel, Ad Geurts; Iwamoto, Aikichi; Wang, Jianping; Liu, Huanliang

2015-01-01

Perivascular epithelioid cell tumors of gastrointestinal tract (GI PEComas) are exceedingly rare, with only a limited number of published reports worldwide. Given the scarcity of GI PEComas and their relatively short follow-up periods, our current knowledge of their biologic behavior, molecular genetic alterations, diagnostic criteria, and prognostic factors continues to be very limited. We present 2 cases of GI PEComas, one of which showed an aggressive histologic behavior that underwent multiple combined chemotherapies. We also review the available English-language medical literature on GI PEComas-not otherwise specified (PEComas-NOS) and discuss their clinicopathological and molecular genetic features. Pathologic analyses including histomorphologic, immunohistochemical, and ultrastructural studies were performed to evaluate the clinicopathological features of GI PEComas, their diagnosis, and differential diagnosis. Immunohistochemistry, semiquantitative reverse transcriptase polymerase chain reaction, and DNA sequencing assays were carried out to detect the potential molecular genetic alterations in our cases Microscopically, the tumors showed distinctive histologic features of PEComas-NOS, including fascicular or nested architecture, epithelioid or spindled cell type, and clear to eosinophilic cytoplasm. The tumor cells were immunohistochemically positive for melanocytic markers. Molecular pathological assays confirmed a PSF-TFE3 gene fusion in one of our cases. Furthermore, in this case microphthalmia-associated transcription factor and its downstream genes were found to exhibit elevated transcript levels. Knowledge about the molecular genetic alterations in GI PEComas is still limited and warrants further study. PMID:25621681

Does magnetic resonance imaging produce further benefit for detecting a bleeding source in subarachnoid hemorrhage of unknown origin?

PubMed

Maslehaty, Homajoun; Petridis, Athanassios K; Barth, Harald; Doukas, Alexandros; Mehdorn, Hubertus Maximilian

2011-01-01

Spontaneous subarachnoid hemorrhage (SAH) without evidence of a bleeding source on the first digital subtraction angiogram (DSA) - also called SAH of unknown origin - is observed in up to 27% of all cases. Depending on the bleeding pattern on CT scanning, SAH can be differentiated into perimesencephalic (PM-SAH) and non-perimesencephalic SAH (NON-PM-SAH). The aim of our study was to investigate the effectiveness of magnetic resonance imaging (MRI) for detecting a bleeding source in SAH of unknown origin. We retrospectively reviewed 1,226 patients with spontaneous SAH between January 1991 and December 2008 in our department. DSA was performed in 1,068 patients, with negative results in 179 patients. Forty-seven patients were categorized as having PM-SAH and 132 patients as having NON-PM-SAH. MRI of the brain and the craniocervical region was performed within 72 h after diagnosis of SAH and demonstrated no bleeding sources in any of the PM-SAH and NON-PM-SAH patients (100% negative). In our experience MRI did not produce any additional benefit for detecting a bleeding source after SAH with a negative angiogram. The costs of this examination exceeded the clinical value. Despite our results MRI should be discussed on a case-by-case basis because rare bleeding sources are periodically diagnosed in cases of NON-PM-SAH.

A rare case of primary bone lymphoma mimicking a pelvic abscess

PubMed Central

Al Wattar, BH; Mohanty, K

2011-01-01

Primary bone lymphoma (PBL) is a rare, malignant, neoplastic disorder of the skeleton that accounts for less than 5% of all primary bone tumours. We present an extremely rare case of PBL mimicking a pelvic abscess around the sacroiliac joint, which has never been reported in the medical literature, and discuss learning points highlighted from this case. PMID:22004625

Hydro-Geomorphic Connectivity in Arid Watershed: Anthropogenic Effects and Extreme Flash flood

NASA Astrophysics Data System (ADS)

Egozi, Roey

2017-04-01

Arid watersheds are excellent settings to study water and sediment connectivity because of spars vegetation and the possibility to make clearer links between climate parameters and topographical changes. However different flood event magnitudes may result in different degrees of connectivity. This even gets more complicated when man made modifications to the drainage system are done without considering the outcomes in terms of the potential of flood damage and risks, i.e. in the case of extreme flash floods. Herein we report on the results from two studies conducted in two different small catchments along the dead sea rift: Wadi A Dalia and Wadi Ras Moakif. The studies conducted as part of a larger project aimed at investigating the floods and damages triggered by a rare storm event occurred at the end of October 2015. This storm event covered all of Israel and characterized with rare rainfall depths and intensities as well as floods with rare pick discharges. Observations and field measurements of bed material, river cross sections and water elevation markers were done and statistical analysis has been performed to estimate the exceed probability of the different measured and estimated hydro-climatic values. In Wadi-A-Dalia the coupling of rare rainfall depths over the watershed area which itself was bare due to over grazing result in a major flood. The severe damage caused by this flood was intensified due to the increase of structural hydrologic connectivity, i.e. flood protection canal discharged higher volumes of water collected from small Wadi systems at the same time. In Wadi Ras Moakif the rainfall cells did not produced rare rainfall, but still a major flood occurred over a very short distance of the main channel transporting huge amount of bed material deposited and blocked the main road along the dead sea western coast. In this case the cause was similar - a modification to the drainage system result in increase structural hydrologic connectivity lead to runoff concentration and higher stream power value. The results suggest that in arid watersheds flood protection measures that involve modifications to the drainage system such that the structural hydrologic connectivity improves with the aim to conduit the volume of water away may fail to provide the protection planned and may cause higher damage to infrastructures. Therefore, hydrologic connectivity should become a parameter in flood control design. Moreover, studying hydrologic connectivity in natural landscapes may provide valid solutions for flood control design projects.

Safety of a no-fast protocol for tracheotomy in critical care

PubMed Central

Hartl, Trevor; Anderson, Donald; Levi, Jasna

2015-01-01

Summary With modern anesthesia, aspiration is an exceedingly rare complication, and we have learned that a prolonged fast can result in serious adverse effects in critically ill patients. We discuss the no-fast protocol implemented at Vancouver General Hospital in 2007 for intubated, tube-fed adult patients who underwent elective open tracheotomy. PMID:25621914

Corneal ulcer due to a rare coelomycetes fungus Chaetomium strumarium: Case report and global review of Chaetomium keratomycosis

PubMed Central

Reddy, Mamatha; Venugopal, Ramya; Prakash, Peralam Yegneswaran; Kamath, Yogish Subraya

2017-01-01

We present a rare case of corneal ulcer caused by a species of a coelomycetes fungus, Chaetomium strumarium. This fungal genus is a rare causative agent of keratomycosis, with only a handful of cases reported. The clinical presentation, investigative techniques, and preliminary management of our patient are reported. The cases reported in global literature are also summarized in a tabular form in the discussion. PMID:28905835

Giant magnetic anisotropy of rare-earth adatoms and dimers adsorbed by graphene oxide.

PubMed

Zhang, Kai-Cheng; Li, Yong-Feng; Liu, Yong; Zhu, Yan; Shi, Li-Bin

2017-05-24

Nowadays, transition-metal adatoms and dimers with giant magnetic anisotropy have attracted much attention due to their potential applications in data storage, spintronics and quantum computations. Using density-functional calculations, we investigated the magnetic anisotropy of the rare-earth adatoms and dimers adsorbed by graphene oxide. Our calculations reveal that the adatoms of Tm, Er and Sm possess giant magnetic anisotropy, typically larger than 40 meV. When the dimers of (Tm,Er,Sm)-Ir are adsorbed onto graphene oxide, the magnetic anisotropy even exceeds 200 meV. The magnetic anisotropy can be tuned by the external electric field as well as the environment.

Overt Skeletal Metastases in a Patient of Occult (Microscopic) Follicular Thyroid Carcinoma: a Rare Case.

PubMed

Jha, Chandan Kumar; Agrawal, Vinita; Mishra, Anjali; Pradhan, P K

2018-03-01

Occult follicular thyroid carcinoma (FTC) presenting as distant metastases is a rare occurrence. However, despite being occult in majority of these cases, primary tumor can be detected on thyroid imaging or during surgery. Here, we present an extremely rare case of an occult FTC with overt skeletal metastases in which primary tumor was discernible only on microscopic examination.

A rare case of non-metastatic cholangiocarcinoma in a long standing choledochal cyst

PubMed Central

Goukassian, ID; Kussman, SR; Toribo, Y; McAneny, DB; Rosen, JE

2012-01-01

Choledochal cysts are rare benign growths that can develop into cancerous lesions if left untreated. The cysts are commonly discovered incidentally during imaging procedures for other reasons. Surgical resection is recommended to avoid risk of cancer or metastatic disease. A rare case of a non-metastatic cholangiocarcinoma in a longstanding choledochal cyst is presented in this case report. PMID:24960829

A rare case of non-metastatic cholangiocarcinoma in a long standing choledochal cyst.

PubMed

Goukassian, Id; Kussman, Sr; Toribo, Y; McAneny, Db; Rosen, Je

2012-04-01

Choledochal cysts are rare benign growths that can develop into cancerous lesions if left untreated. The cysts are commonly discovered incidentally during imaging procedures for other reasons. Surgical resection is recommended to avoid risk of cancer or metastatic disease. A rare case of a non-metastatic cholangiocarcinoma in a longstanding choledochal cyst is presented in this case report. © JSCR.

Impact of the Japanese Diagnosis Procedure Combination-based Payment System on cardiovascular medicine-related costs.

PubMed

Yasunaga, Hideo; Ide, Hiroo; Imamura, Tomoaki; Ohe, Kazuhiko

2005-09-01

In 2003, a lump-sum payment system based on Diagnosis Procedure Combinations (DPC) was introduced to 82 specific function hospitals in Japan. While the US DRG/PPS system is a "per case payment" system, the DPC based payment system adopts a "per day payment." It is generally believed that the Japanese system provides as much of an incentive as the DRG/PPS system to shorten the average length of stay (LOS). We performed an empirical analysis of the effect of LOS shortening on hospital revenue and expenditure under the DPC-based payment system, particularly in cardiovascular diseases. We also point out fundamentally controversial aspects of the current system. A total 109 cases were selected from patients hospitalized at the University of Tokyo Hospital from May to July, 2003 and classified into one of three categories: (1) cardiac catheter interventions, (2) cardiac catheter examinations, and (3) other conservative treatments. We analyzed the changes in profit per day in cases of a reduction in average LOS and an increase in the number of cases. In category (1) profit increased significantly in conjunction with reduced LOS. In category (2) profit increased only minimally. In category (3), profit increased rarely and sometimes decreased. In cases of conservative treatment, profits sometimes decreased because an increase in material costs exceeded the increase in revenue. It therefore became clear that the DPC-based payment system does not decisively provide an economic incentive to reduce LOS in cardiovascular medicine.

Discovery of dense aggregations of stalked crinoids in Izu-Ogasawara trench, Japan.

PubMed

Oji, Tatsuo; Ogawa, Yujiro; Hunter, Aaron W; Kitazawa, Kota

2009-06-01

Stalked crinoids are recognized as living fossils that typically inhabit modern deep-water environments exceeding 100 m. Previous records of stalked crinoids from hadal depths (exceeding 6000 m) are extremely rare, and no in-situ information has been available. We show here that stalked crinoids live densely on rocky substrates at depths over 9000 m in the Izu-Ogasawara Trench off the eastern coast of Japan, evidenced by underwater photos and videos taken by a remotely operated vehicle. This is the deepest in-situ observation of stalked crinoids and demonstrates that crinoid meadows can exist at hadal depths close to the deepest ocean floor, in a fashion quite similar to populations observed in shallower depths.

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.

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

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.

Confronting uncertainty in wildlife management: performance of grizzly bear management.

PubMed

Artelle, Kyle A; Anderson, Sean C; Cooper, Andrew B; Paquet, Paul C; Reynolds, John D; Darimont, Chris T

2013-01-01

Scientific management of wildlife requires confronting the complexities of natural and social systems. Uncertainty poses a central problem. Whereas the importance of considering uncertainty has been widely discussed, studies of the effects of unaddressed uncertainty on real management systems have been rare. We examined the effects of outcome uncertainty and components of biological uncertainty on hunt management performance, illustrated with grizzly bears (Ursus arctos horribilis) in British Columbia, Canada. We found that both forms of uncertainty can have serious impacts on management performance. Outcome uncertainty alone--discrepancy between expected and realized mortality levels--led to excess mortality in 19% of cases (population-years) examined. Accounting for uncertainty around estimated biological parameters (i.e., biological uncertainty) revealed that excess mortality might have occurred in up to 70% of cases. We offer a general method for identifying targets for exploited species that incorporates uncertainty and maintains the probability of exceeding mortality limits below specified thresholds. Setting targets in our focal system using this method at thresholds of 25% and 5% probability of overmortality would require average target mortality reductions of 47% and 81%, respectively. Application of our transparent and generalizable framework to this or other systems could improve management performance in the presence of uncertainty.

A solitary mixed squamous cell and glandular papilloma of the lung.

PubMed

Kozu, Yoshiki; Maniwa, Tomohiro; Ohde, Yasuhisa; Nakajima, Takashi

2014-01-01

Mixed squamous cell and glandular papilloma (mixed papilloma) of the lung is exceedingly rare, with only 18 cases reported in the literature. Herein, we report a case of mixed papilloma and its associated immunohistochemical and positron emission tomographic (PET) findings. A 60-year-old Japanese male with a smoking history of 40 pack-years presented with a smooth-edged pulmonary lesion in the right S5 segment on computed tomography (CT). F18-fluorodeoxyglucose (FDG) PET revealed abnormally increased FDG uptake in the mass (maximum standardized uptake value, 3.4). We performed right middle lobectomy and combined partial resection of the S8 segment. The 1.8-cm tumor that filled the enlarged lumen of the B5b was histologically diagnosed as mixed papilloma. Immunohistochemically, the pseudostratified columnar epithelium was positive for cytokeratin (CK) 5/6 and CK7. p40 positivity was predominant in the basal and squamous cells. Thyroid transcription factor-1 and carcinoembryonic antigen were negative on immunostaining. Malignant features were absent. The postoperative course has been uneventful for 3 months after the surgery. No recurrences were reported after the surgical resection of the mixed papilloma. Therefore, surgical resection may be considered the mainstay of curative treatment.

Physiologically Based Pharmacokinetic (PBPK) Modeling of ...

EPA Pesticide Factsheets

Background: Quantitative estimation of toxicokinetic variability in the human population is a persistent challenge in risk assessment of environmental chemicals. Traditionally, inter-individual differences in the population are accounted for by default assumptions or, in rare cases, are based on human toxicokinetic data.Objectives: To evaluate the utility of genetically diverse mouse strains for estimating toxicokinetic population variability for risk assessment, using trichloroethylene (TCE) metabolism as a case study. Methods: We used data on oxidative and glutathione conjugation metabolism of TCE in 16 inbred and one hybrid mouse strains to calibrate and extend existing physiologically-based pharmacokinetic (PBPK) models. We added one-compartment models for glutathione metabolites and a two-compartment model for dichloroacetic acid (DCA). A Bayesian population analysis of inter-strain variability was used to quantify variability in TCE metabolism. Results: Concentration-time profiles for TCE metabolism to oxidative and glutathione conjugation metabolites varied across strains. Median predictions for the metabolic flux through oxidation was less variable (5-fold range) than that through glutathione conjugation (10-fold range). For oxidative metabolites, median predictions of trichloroacetic acid production was less variable (2-fold range) than DCA production (5-fold range), although uncertainty bounds for DCA exceeded the predicted variability. Conclusions:

Flow diversion in vasculitic intracranial aneurysms? Repair of giant complex cavernous carotid aneurysm in polyarteritis nodosa using Pipeline embolization devices: first reported case.

PubMed

Santos, Jaime Martinez; Kaderali, Zul; Spears, Julian; Rubin, Laurence A; Marotta, Thomas R

2015-05-29

Intracranial aneurysms in polyarteritis nodosa (PAN) are exceedingly rare lesions with unpredictable behavior that pose real challenges to microsurgical and endovascular interventions owing to their inflammatory nature. We introduce a safe and effective alternative for treating these aneurysms using Pipeline embolization devices (PEDs). A 20-year-old man presented with diplopia, headaches, chronic abdominal pain, and weight loss. Diagnostic evaluations confirmed PAN, including bilateral giant cavernous carotid aneurysms. Cyclophosphamide and steroids achieved significant and sustained clinical improvement, with a decision to follow the aneurysms serially. Seven years later the left unruptured aneurysm enlarged, causing a sudden severe headache and a cavernous sinus syndrome. Treatment of the symptomatic aneurysm was pursued using flow diversion (PED) and the internal carotid artery was successfully reconstructed with a total of four overlapping PEDs. At 6 months follow-up, complete exclusion of the aneurysm was demonstrated, with symptomatic recovery. This is the first description of using a flow-diverting technique in an inflammatory vasculitis. In this case, PEDs not only attained a definitive closure of the aneurysm but also reconstructed the damaged and fragile arterial segment affected with vasculitis. 2015 BMJ Publishing Group Ltd.

Cerebral Myiasis Associated with Artificial Cranioplasty Flap: A Case Report.

PubMed

Giri, Sachin Ashok; Kotecha, Nitin; Giri, Deepali; Diyora, Batuk; Nayak, Naren; Sharma, Alok

2016-03-01

Cranioplasty is a commonly performed procedure for the repair of cranial defects. Various materials have been used for this procedure and have a good safety profile. Human cerebral myiasis is an exceedingly rare condition. It involves the invasion of live or dead human tissues by larvae of the insect species dipterous. We describe the first case of cerebral myiasis associated with an artificial cranioplasty bone flap. There was delayed cerebral cortex infestation of the species dipterous after cranioplasty with polymethyl methacrylate bone flap. The patient initially presented with an acute subdural hematoma and contaminated, comminuted frontal bone fracture that required craniectomy with interval cranioplasty at 3 months. Two years after the index procedure, the patient presented for neurosurgical follow-up because of 2 months of nonhealing ulcers and a foul smell emanating from the cranioplasty site, as well as acute onset of unilateral arm and leg weakness. Surgical exploration found live larvae invading the dura and cerebral cortex, an area that was thoroughly debrided with good outcomes for the patient. Cerebral myiasis can be managed via surgical and antibiotic therapy to obtain a good clinical outcome. Copyright © 2016 Elsevier Inc. All rights reserved.

Sample size for positive and negative predictive value in diagnostic research using case–control designs

PubMed Central

Steinberg, David M.; Fine, Jason; Chappell, Rick

2009-01-01

Important properties of diagnostic methods are their sensitivity, specificity, and positive and negative predictive values (PPV and NPV). These methods are typically assessed via case–control samples, which include one cohort of cases known to have the disease and a second control cohort of disease-free subjects. Such studies give direct estimates of sensitivity and specificity but only indirect estimates of PPV and NPV, which also depend on the disease prevalence in the tested population. The motivating example arises in assay testing, where usage is contemplated in populations with known prevalences. Further instances include biomarker development, where subjects are selected from a population with known prevalence and assessment of PPV and NPV is crucial, and the assessment of diagnostic imaging procedures for rare diseases, where case–control studies may be the only feasible designs. We develop formulas for optimal allocation of the sample between the case and control cohorts and for computing sample size when the goal of the study is to prove that the test procedure exceeds pre-stated bounds for PPV and/or NPV. Surprisingly, the optimal sampling schemes for many purposes are highly unbalanced, even when information is desired on both PPV and NPV. PMID:18556677

Clavicle fractures.

PubMed

Ropars, M; Thomazeau, H; Huten, D

2017-02-01

Management of clavicle fracture has progressed over the last decade, notably with wider use of surgery in midshaft fracture, and new techniques for lateral fracture. Midshaft clavicle fracture treatment needs to be personalized and adapted to the patient's activity level. Whichever the segment involved, treatment for non-displaced fracture is functional; elbow-to-body sling immobilization seems the best tolerated. Apart from regular surgical indications (shoulder impaction, floating shoulder, open fracture or fracture with neurovascular complications), surgery is recommended in case of bone shortening exceeding 1.5cm in young active patients. The technique needs to take account of clavicle anatomy: notably periosteal vascularization in midshaft fracture and acromioclavicular ligament integrity and location in case of lateral fracture. Plate osteosynthesis should take account of bone diameter and 3D curvature; intramedullary fixation should take account of intramedullary canal morphology. Although iatrogenic vascular complications are rare, vessel relations and variants need to be known, especially in the medial end of the clavicle and midshaft. Lateral segment fractures are a particular entity. Large-scale randomized studies are needed to assess indications and results for the various possible internal fixation techniques: isolated or associated to ligament reconstruction, rigid or flexible, and open or arthroscopic. Copyright © 2016 Elsevier Masson SAS. All rights reserved.

Study and analysis of the state of rare disease research in Shandong Province, China.

PubMed

Zhao, Heng; Cui, Yazhou; Zhou, Xiaoyan; Pang, Jingxiang; Zhang, Xiumei; Xu, Shuangqing; Han, Jinxiang

2012-11-01

As the world's most populous country, China has the world's largest number of rare disease groups in terms of prevalence. However, the country has no system of registering cases of most rare diseases, so there is very little documented information on the epidemiology of those diseases. The purpose of this study was to study the state of rare disease research and survey doctors in Shandong Province regarding their level of awareness of rare diseases. Types of rare diseases and numbers of cases were tallied and their geographical distribution over the decades was analyzed. Eight hundred and twenty-four doctors in tertiary hospitals and maternity and child care hospitals were surveyed by questionnaire. Data were descriptively analyzed and a map of disease distribution was created. Articles about rare diseases were retrieved from the Chinese Biomedical Literature Database to provide pertinent data. This study yielded 5,749 cases of 323 different types of rare diseases. The survey found that doctors lack awareness of research on rare diseases. An authoritative and information-rich platform for rare disease research is urgently needed. Key steps are to study epidemiological and statistical techniques and then obtain available data to provide a basis for the definition and regulation of rare diseases in China.

Study and analysis of the state of rare disease research in Shandong Province, China

PubMed Central

Zhao, Heng; Cui, Yazhou; Zhou, Xiaoyan; Pang, Jingxiang; Zhang, Xiumei; Xu, Shuangqing; Han, Jinxiang

2012-01-01

Summary As the world's most populous country, China has the world's largest number of rare disease groups in terms of prevalence. However, the country has no system of registering cases of most rare diseases, so there is very little documented information on the epidemiology of those diseases. The purpose of this study was to study the state of rare disease research and survey doctors in Shandong Province regarding their level of awareness of rare diseases. Types of rare diseases and numbers of cases were tallied and their geographical distribution over the decades was analyzed. Eight hundred and twenty-four doctors in tertiary hospitals and maternity and child care hospitals were surveyed by questionnaire. Data were descriptively analyzed and a map of disease distribution was created. Articles about rare diseases were retrieved from the Chinese Biomedical Literature Database to provide pertinent data. This study yielded 5,749 cases of 323 different types of rare diseases. The survey found that doctors lack awareness of research on rare diseases. An authoritative and information-rich platform for rare disease research is urgently needed. Key steps are to study epidemiological and statistical techniques and then obtain available data to provide a basis for the definition and regulation of rare diseases in China. PMID:25343091

A hybrid approach to appendicitis with right external iliac artery pseudo aneurysm: A case report.

PubMed

Chandler, Benjamin T; Ryer, Evan J; Keyser, Benjamin M; Elmore, James R

2017-01-01

While acute appendicitis is a common surgical problem, the simultaneous occurrence of appendicitis and an infected iliac artery pseudoaneurysm is exceedingly rare. We report the successful treatment of an infected right external iliac artery pseudo aneurysm in the 1setting of acute appendicitis. The patient is an 83-year-old male who presents with severe sepsis, right lower quadrant and right leg pain. Additional past medical history is significant for rectal cancer status post resection and radiation therapy in 1997. Computed tomography (CT) on admission revealed a right iliopsoas muscle abscess, an inflamed Appendix and a pseudo aneurysm arising from the right external iliac artery. After consultations by multiple specialties, the plan was to proceed with percutaneous drainage of the abscess, antibiotic therapy and subsequent repair of the pseudoaneurysm. CT guided drainage of the iliopsoas abscess was performed with return of hemorrhagic fluid. Due to the concern of contained pseudoaneurysm rupture, the patient was taken for expedited repair. Due to the patient's frailty and hostile abdomen, we performed embolization of the right external iliac artery pseudoaneurysm with Amplatzer I plugs (St. Jude Medical, St. Paul MN) and left common femoral to right superficial femoral bypass with cryopreserved cadaveric femoral vein. Following pseudoaneurysm exclusion, continued percutaneous drainage and antibiotic therapy, the patient has done well with no further evidence of infection. Repair of infected pseudo aneurysms can prove challenging. Ongoing infection, a hostile surgical abdomen and patient frailty further complicates the treatment of these patients. This case displays a minimally invasive approach to this rare but morbid condition. Copyright © 2017 The Author(s). Published by Elsevier Ltd.. All rights reserved.

Clinical Applications of Molecular Genetic Discoveries

PubMed Central

Marian, A.J.

2015-01-01

Genome-wide association studies (GWAS) of complex traits have mapped more than 15,000 common single nucleotide variants (SNVs). Likewise, applications of massively parallel nucleic acid sequencing technologies often referred to as Next Generation Sequencing, to molecular genetic studies of complex traits have catalogued a large number of rare variants (population frequency of <0.01) in cases with complex traits. Moreover, high throughput nucleic acid sequencing, variant burden analysis, and linkage studies are illuminating the presence of large number of SNVs in cases and families with single gene disorders. The plethora of the genetic variants has exposed the formidable challenge of identifying the causal and pathogenic variants from the enormous number of innocuous common and rare variants that exist in the population as well as in an individual genome. The arduous task of identifying the causal and pathogenic variants is further compounded by the pleiotropic effects of the variants, complexity of cis and trans interactions in the genome, variability in phenotypic expression of the disease, as well as phenotypic plasticity, and the multifarious determinants of the phenotype. Population genetic studies offer the initial roadmaps and have the potential to elucidate novel pathways involved in the pathogenesis of the disease. However, the genome of an individual is unique, rendering unambiguous identification of the causal or pathogenic variant in a single individual exceedingly challenging. Yet, the focus of the practice of medicine is on the individual, as Sir William Osler elegantly expressed in his insightful quotation: “The good physician treats the disease; the great physician treats the patient who has the disease.” The daunting task facing physicians, patients, and researchers alike is to apply the modern genetic discoveries to care of the individual with or at risk of the disease. PMID:26548329

THERAPY-RELATED T/MYELOID MIXED PHENOTYPE ACUTE LEUKEMIA IN A PATIENT TREATED WITH CHEMOTHERAPY FOR CUTANEOUS DIFFUSE LARGE B CELL LYMPHOMA.

PubMed

Roberts, Evans; Oncale, Melody; Safah, Hana; Schmieg, John

2016-01-01

Mixed-phenotype acute leukemia is a rare form of leukemia that is associated with a poor prognosis. Most cases of mixed-phenotype acute leukemia are de novo. However, therapy-related mixed-phenotype acute leukemia can occur, and are often associated with exposure to topoisomerase-II inhibitors and alkylating agents. There are no known treatment guidelines for therapy-related mixed-phenotype acute leukemia. We present a patient with T/myeloid mixed-phenotype acute leukemia secondary to rituximab, cyclophosphamide, doxorubicin, vincristine, and prednisone R-CHOP chemotherapy for primary cutaneous diffuse large B-cell lymphoma. The patient's leukemic cells express CD34, an immaturity marker, CD3, a T-cell marker, and myeloperoxidase, a myeloid marker, and her history of chemotherapy for previous lymphoma supports the diagnosis of therapy-related T/myeloid mixed phenotype acute leukemia. Clinicians should be aware that this entity could be associated with R-CHOP chemotherapy. Given the complexity in diagnosis, and lack of treatment guidelines, a further understanding of the pathological and genetic principles of therapy-related mixed-phenotype acute leukemia will assist in future efforts to treat and categorize these patients. Mixed phenotype acute leukemia is a rare entity that accounts for two to five percent of all acute leukemias. Therapy- related mixed phenotype acute leukemia is an exceedingly rare hematological neoplasm that accounts for less than one percent of acute leukemias. We describe a case of therapy-related T/myeloid mixed phenotype acute leukemia following rituximab, cyclophosphamide, doxorubicin, vincristine, and prednisone R-CHOP chemotherapy for primary cutaneous diffuse large B-cell lymphoma DLBCL. The patient is a 63-year-old female who presented with several cutaneous nodules diagnosed as primary cutaneous DLBCL. The patient received R-CHOP chemotherapy and achieved remission. She remained in remission for four years until she presented with dyspnea, night sweats, weakness, and diffuse lymphadenopathy. Her presentation was initially concerning for recurrent lymphoma; however, a bone marrow biopsy and aspirate and a lymph node biopsy revealed a distinct blast population consistent with T/myeloid mixed phenotype acute leukemia T/M-MPAL. Given the patient's history of previous chemotherapy exposure, our patient represents a case of therapy-related T/myeloid mixed phenotype acute leukemia t-MPAL.

Dioctophymiasis: A Rare Case Report

PubMed Central

Kaval, Sunil; Tewari, Swati

2016-01-01

Dioctophyma renale commonly known as “giant kidney worm’ is found in the kidney of carnivorous mammals. Human infestation is rare, but results in destruction of the kidneys. Very few cases have been reported worldwide. We are here reporting a case of Dioctophymiasis in a 35-year-old male patient who presented with retention of urine and subsequent passage of worm and blood in urine. The worm was confirmed as Dioctophyma renale based on its morphology and clinical presentation. This is a very rare case report and to best of our knowledge only two cases have been reported from India. PMID:27042466

Dioctophymiasis: A Rare Case Report.

PubMed

Chauhan, Sapna; Kaval, Sunil; Tewari, Swati

2016-02-01

Dioctophyma renale commonly known as "giant kidney worm' is found in the kidney of carnivorous mammals. Human infestation is rare, but results in destruction of the kidneys. Very few cases have been reported worldwide. We are here reporting a case of Dioctophymiasis in a 35-year-old male patient who presented with retention of urine and subsequent passage of worm and blood in urine. The worm was confirmed as Dioctophyma renale based on its morphology and clinical presentation. This is a very rare case report and to best of our knowledge only two cases have been reported from India.

Facial nerve hemangioma: a rare case involving the vertical segment.

PubMed

Ahmadi, Neda; Newkirk, Kenneth; Kim, H Jeffrey

2013-02-01

This case report and literature review reports on a rare case of facial nerve hemangioma (FNH) involving the vertical facial nerve (FN) segment, and discusses the clinical presentation, imaging, pathogenesis, and management of these rare lesions. A 53-year-old male presented with a 10-year history of right hemifacial twitching and progressive facial paresis (House-Brackmann grading score V/VI). The computed tomography and magnetic resonance imaging studies confirmed an expansile lesion along the vertical FN segment. Excision and histopathologic examination demonstrated FNH. FNHs involving the vertical FN segment are extremely rare. Despite being rare lesions, we believe that familiarity with the presentation and management of FNHs are imperative. Laryngoscope, 2012. Copyright © 2012 The American Laryngological, Rhinological, and Otological Society, Inc.

Discreet charm of the GABAergic bourgeoisie: superconnected cells conduct developmental symphonies.

PubMed

Case, Marianne; Soltesz, Ivan

2009-12-24

In an exciting study in the December 4(th) issue of Science, Bonifazi and colleagues demonstrated the existence and importance of exceedingly rare but unusually richly connected cells in the developing hippocampus. Manipulating the activity of single GABAergic hub cells modulated network activity patterns, demonstrating their importance for coordinating synchronous activity. 2009 Elsevier Inc. All rights reserved.

Forecasting regional to global plant migration in response to climate change.

Treesearch

Ronald P. Neilson; Louis F. Pitelka; Allen M. Solomon; Ran Nathan; Guy F. Midgley; Jóse M. Fragoso; Heike Lischke; Ken Thompson

2005-01-01

The rate of future climate change is likely to exceed the migration rates of most plant species. The replacement of dominant species by locally rare species may require decades, and extinctions may occur when plant species cannot migrate fast enough to escape the consequences of climate change. Such lags may impair ecosystem services, such as carbon sequestration and...

Non-resonant excitation of rare-earth ions via virtual Auger process

NASA Astrophysics Data System (ADS)

Yassievich, I. N.

2011-05-01

The luminescence of rare-earth ions (REI) is often intensified by defects associated with REIs or excitons bound to these defects. In this paper we show that the presence of such a state opens the possibility of non-resonance optical pumping via the process involving virtual Auger transition. It is the second order perturbation process when an electron arrives in an virtual intermediate state due to the optical transition (the first step) and the Auger transition is the second one. We have calculated the cross-section of such an excitation process when the optical transition is accompanied by creation of the exciton bound to the defect associated with REI and obtained a simple analytical expression for the cross-section. The excess energy of the excitation quanta is taken away by multiphonon emission. The electron-phonon interaction with local phonon vibrations of the bound exciton is assumed to determine the multiphonon process. It is shown that the probability of the process under study exceeds considerably the probability of direct optical 4f-4f absorption even in the case when the energy distance between the excitation quantum energy and the exciton energy is about 0.1 of the exciton energy. The excitation mechanism considered leads to the appearance of a broad unsymmetrical band in the excitation spectrum with the red side much wider and flatter than the blue one.

Liver schwannoma incidentally discovered in a patient with breast cancer.

PubMed

Akin, Murat; Bozkirli, Bahadir; Leventoglu, Sezai; Unal, Kemal; Kapucu, L Ozlem; Akyurek, Nalan; Sare, Mustafa

2009-01-01

Benign schwannomas, also referred to as neurilemomas, neurinomas, and perineural fibroblastomas, are encapsulated nerve sheath tumors. Primary schwannomas of the liver are extremely rare. We present a case of liver schwannoma, incidentally found in a patient with breast cancer. A 66-year-old female consulted her physician for a mass she palpated on her left breast. The abdominal ultrasonography (USG) revealed a 44 x 28 mm mass in the medial segment of the left lobe of her liver suspicious of a metastasis. An USG-guided biopsy was performed and the histo-pathological examination revealed a "peripheral nerve sheath tumor". Positron emission tomography (PET-CT) revealed a pathologic FDG uptake in the lesion that was previously defined in the liver. The tumor resected from the liver was 5 x 4 x 3 cm, yellowish, soft, and capsulated tumor. Microscopic examination revealed that the mass consisted of bundles of spindle cells with hypercellular and hypocellular areas. In immunohistochemistry, there was a strong positive staining for S-100. The tumor was diagnosed as benign liver schwannoma. Schwannomas are benign, encapsulated neoplasms. Symptoms and signs vary depending on the anatomical site and the size of the neoplasm; however, most schwannomas present as an asymptomatic or painless mass. Recurrence is unusual, despite of an incomplete removal, and malignant transformation is exceedingly rare (Fig. 4, Ref. 8). Full Text (Free, PDF) www.bmj.sk.

Colonisation of basal cell carcinoma and actinic keratosis by malignant melanoma in situ in a patient with xeroderma pigmentosum variant

PubMed Central

Smith, Louise J.; Husain, Ehab A.

2012-01-01

Although malignant melanoma (MM) and both basal cell carcinoma (BCC) and actinic keratosis (AK) are sun-induced lesions, the coexistence of these entities at the same anatomical site (collision tumour) is exceedingly rare. We report the case of a 54-year-old woman with a known history of xeroderma pigmentosum variant (XPV) who presented with 2 separate skin lesions over the middle and upper right forearm, respectively. The clinical impression was that of BCCs or squamous cell lesions. On histological examination, both specimens showed features of melanoma in situ (MIS). In the first lesion, MIS merged with and colonised a superficial and focally invasive BCC. In the second lesion, MIS merged with an AK. No separate invasive nests of malignant melanoma were seen in either specimen. The atypical melanocytes were highlighted by Melan-A and HMB-45 immunostaining, whereas the epithelial cells in both the BCC and AK stained with the pancytokeratin MNF-116. The patient had a previous history of multiple MMs and non-melanomatous skin cancers and finally developed widespread metastatic malignant melanoma, which proved fatal. The rare and interesting phenomenon of collision tumours may pose diagnostic difficulties. To our knowledge, this is the first reported simultaneous presentation of cytologically malignant collision tumours in a patient with XPV. PMID:24765446

Myxedema coma of both primary and secondary origin, with non-classic presentation and extremely elevated creatine kinase.

PubMed

Benvenga, S; Squadrito, S; Saporito, F; Cimino, A; Arrigo, F; Trimarchi, F

2000-09-01

Myxedema coma is a rare, often fatal endocrine emergency that concerns elderly patients with long-standing primary hypothyroidism; myxedema coma of central origin is exceedingly rare. Here, we report a 37-year-old woman in whom classical symptoms of hypothyroidism had been absent. Six years earlier, she had severe obstetric hemorrhage and, shortly after, two subsequent episodes of pericardial effusion. On the day of admission, pericardiocentesis was performed for the third episode of pericardial effusion. Because of the subsequent grave arrhythmias and unconsciousness, she was transferred to our ICU. Prior to the endocrine consultation, a silent myocardial infarction had been suspected, based on the extremely high serum levels of creatine kinase (CK) and isoenzyme CK-MB. However, based on thyroid sonography, pituitary computed tomography, elevated titers of antithyroid antibodies and pituitary stimulation tests, the final diagnosis was myxedema coma of dual origin: an atrophic variant of Hashimoto's thyroiditis and post-necrotic pituitary atrophy (Sheehan syndrome). Substitutive therapy caused a prompt clinical amelioration and normalization of CK levels. Our patient is the first case of myxedema coma of double etiology, and illustrates how its presentation deviates markedly from the one endocrinologists and physicians at ICU are prepared to encounter. In addition, cardiac problems as those of our patient should not discourage from substitutive treatment (using L-thyroxine and the gastrointestinal route of absorption), if the age is relatively low.

Haemoglobin sickle D disease: A presentation with ischaemic stroke.

PubMed

Afzal, Hasnain; Umair, Syed Farrukh

2016-03-01

Haemoglobin-D, Los Angeles or Haemoglobin D-Punjab is not a rare variant of haemoglobin worldwide especially in Punjab, North western India, and South Asian continent. It can be inherited rarely as homozygous causing no symptoms or heterozygous with Haemoglobin A, commonly not related to clinical symptomatology. However, these variants can co-exist rarely with other haemoglobinopathies such as thalassemia or haemoglobin-S. We describe the case of doubly heterozygous Hb-SD Punjab in a 8 year old girl who presented with ischaemic stroke. Before this case, only one case has been reported but it was with reversible hyperbilirubinaemia in Hb-SD from Rawalpindi, Pakistan. This case images the propensity for occurrence of rare phenotype within our population and underlines the importance of genotyping to avoid erroneous management and poor counseling hence preventing life altering complications which our case developed.

Rare cases of disorders of sex development (DSD) in adolescents with female phenotype.

PubMed

Kristesashvili, Jenara; Chipashvili, Mariam; Jorbenadze, Teimuraz; Greydanus, Donald E

2012-01-01

Disorders of sex development (DSD) belong to uncommon pathologies; in addition, there are especially rare forms, such are ovotesticular disorders (OT), Turner syndrome and early malignisation of intraabdominal located gonads in the cases of androgen insensitivity syndrome. In this article we present four rare cases of DSD in female phenotype adolescents: two cases of ovotesticular DSD with 46,XX and 46,XY karyotypes; one familial case of androgen insensitivity syndrome (AIS) with early malignancy (19-year-old) of intra-abdominally-located testicle in older siblings, and a case of spontaneous menstruation in a patient with Turner syndrome and mosaic karyotype 45,X/47,XXX. Rare cases of DSD are connected with diagnostic and management difficulties and so description of each such case and collection of data in this field is very important from a scientific, as well as a practical, point of view. Determination of prognosis and adequate management of each individual patient are also essential. Study of this issue is especially sensitive in the case of adolescent patients in order to avoid physiological stress, to reduce health risks and to improve quality of life.

A novel methodology for rapid digestion of rare earth element ores and determination by microwave plasma-atomic emission spectrometry and dynamic reaction cell-inductively coupled plasma-mass spectrometry.

PubMed

Helmeczi, Erick; Wang, Yong; Brindle, Ian D

2016-11-01

Short-wavelength infrared radiation has been successfully applied to accelerate the acid digestion of refractory rare-earth ore samples. Determinations were achieved with microwave plasma-atomic emission spectrometry (MP-AES) and dynamic reaction cell - inductively coupled plasma-mass spectrometry (DRC-ICP-MS). The digestion method developed was able to tackle high iron-oxide and silicate matrices using only phosphoric acid in a time frame of only 8min, and did not require perchloric or hydrofluoric acid. Additionally, excellent recoveries and reproducibilities of the rare earth elements, as well as uranium and thorium, were achieved. Digestions of the certified reference materials OREAS-465 and REE-1, with radically different mineralogies, delivered results that mirror those obtained by fusion processes. For the rare-earth CRM OKA-2, whose REE data are provisional, experimental data for the rare-earth elements were generally higher than the provisional values, often exceeding z-values of +2. Determined values for Th and U in this reference material, for which certified values are available, were in excellent agreement. Copyright © 2016 Elsevier B.V. All rights reserved.

Effect of Solution Treatment on Microstructure and Properties of Gd - AZ91 Magnesium Alloy

NASA Astrophysics Data System (ADS)

Li, Yao; Wang, Huiling

2018-01-01

In this paper, the Gd-AZ91 alloy was manufactured by adding rare earth element Gd in AZ91 magnesium alloy. The effects of solution treatment on the microstructures of rare earth elements Gd were investigated by means of optical microscopy, scanning electron microscopy, X-ray diffraction analysis and equipment for testing mechanical properties. The experimental results show that the addition of rare earth element Gd in AZ91 magnesium alloy can refine the alloy grain, turn β-Mg17Al12 phase into a discontinuous network or point structure, and produce granular compound Al2Gd in the alloy; when solution temperature is about 380 °C, the alloy structure is the best, the tensile strength of the alloy is the largest with the value larger than 250Mpa; when the solution temperature exceeds 380 °C, the alloy structure is coarsened and the mechanical properties of the alloy are reduced. With the increase of rare earth element Gd content, the tensile strength of the alloy shows a tendency to increase gradually, which Indicates that the addition of a certain amount of rare earth elements Gd can improve the plasticity of the alloy.

A Rare Case of Periampullary Tumor

DTIC Science & Technology

2017-10-13

portion of the duodenum. They commonly present with abdominal pain, gastrointestinal bleeding, or rarely with obstructive jaundice. This is a case of an asymptomatic periampullary gangliocytic paraganglioma.

Nodules on the hair: a rare case of mixed piedra.

PubMed

Khatu, Swapna S; Poojary, Shital Amin; Nagpur, Niranjan G

2013-10-01

Piedra is a superficial fungal infection of the hair shaft characterized by nodules along the hair shaft. Black piedra affects the scalp hair more frequently than white piedra. Occurrence of both types of piedra simultaneously in a patient is extremely rare. We describe here a rare case of mixed piedra of scalp hair.

Hidradenocarcinoma eccrinale syringomatodes of the eyelid--case of a rare malignancy.

PubMed

Karolina, Ziaja; Arkadiusz, Pogrzebielski; Jolanta, Orłowska-Heitzman; Bozena, Romanowska-Dixon

2010-01-01

Presentation of a case of very rare malignant tumor of eccrine sweat glands in the eyelid. A 44 years old man with a tumor of the upper left eyelid is presented. Sweat gland carcinomas are rare malignant tumors of the skin adnexa. Diagnosis of these carcinomas is difficult due to their infrequency.

Dual malignancy in adolescence: A rare case report of metachronous papillary carcinoma of thyroid following dysgerminoma of ovary

PubMed Central

Chakrabarti, Suvadip; Desai, Sanjay M.; Mehta, Dharmendra Y.; Somanath, Shreyas

2016-01-01

Dual malignancy is rare in adolescents. Dual malignancy with the second malignancy of thyroid is rare. No association has been reported between dysgerminoma of ovary and carcinoma thyroid in medical literature. Despite a thorough PubMed search (key words — Papillary carcinoma of thyroid, metachronous, dysgerminoma ovary), we were unable to find a previous reported case of metachronous papillary carcinoma of thyroid (PTC) following dysgerminoma of the ovary. After surgery, the patient is being regularly followed up for recurrence/development of new primary. We report this unusual and rare case in a 17-year-old female patient. PMID:27904567

Regulatory inhibition of biological tissue mineralization through post-nucleation shielding

NASA Astrophysics Data System (ADS)

Chang, Joshua; Miura, Robert

In vertebrates, insufficient availability of calcium and phosphate ions in extracellular fluids leads to loss of bone density and neuronal hyper-excitability. To counteract this problem, calcium ions are present at high concentrations throughout body fluids - at concentrations exceeding the saturation point. This condition leads to the opposite situation where unwanted mineral sedimentation may occur. Remarkably, ectopic or out-of-place sedimentation into soft tissues is rare, in spite of the thermodynamic driving factors. This fortunate fact is due to the presence of auto-regulatory proteins that are found in abundance in bodily fluids. Yet, many important inflammatory disorders such as atherosclerosis and osteoarthritis are associated with this undesired calcification. Hence, it is important to gain an understanding of the regulatory process and the conditions under which it can go awry. We adapted mean-field classical nucleation theory to the case of surface-shielding in order to study the regulation of sedimentation of calcium phosphate salts in biological tissues. Mathematical Biosciences Institute, NSF DMS-1021818, National Institutes of Health, Rehab Medicine.

Bilateral tension pneumothorax resulting from a bicycle-to-bicycle collision

PubMed Central

Edwin, Frank; Sereboe, Lawrence; Tettey, Mark Mawutor; Aniteye, Ernest; Bankah, Patrick; Frimpong-Boateng, Kwabena

2009-01-01

Bilateral tension pneumothorax occurring as a result of recreational activity is exceedingly rare. A 10-year-old boy with no previous respiratory symptoms was involved in a bicycle-to-bicycle collision during play. He was the only one hurt. A few hours later, he was rushed to the general casualty unit of the emergency department of our institution with respiratory distress, diminished bilateral chest excursions and diminished breath sounds. The correct diagnosis was made after a chest radiograph was obtained in the course of resuscitation at the casualty unit. Pleural space needle decompression was suggestive of tension only on the right. Bilateral tube thoracostomies provided effective relief. He was discharged from hospital after a week in excellent health. This case illustrates the need for children to have safety instruction to reduce the risks of recreational bicycling. Chest radiography may be needed to establish the diagnosis of bilateral tension pneumothorax. Needle thoracostomy decompression is not always effective. PMID:22148075

Binary Black Hole Mergers from Planet-like Migrations.

PubMed

Gould; Rix

2000-03-20

If supermassive black holes (BHs) are generically present in galaxy centers, and if galaxies are built up through hierarchical merging, BH binaries are at least temporary features of most galactic bulges. Observations suggest, however, that binary BHs are rare, pointing toward a binary lifetime far shorter than the Hubble time. We show that, almost regardless of the detailed mechanism, all stellar dynamical processes are too slow in reducing the orbital separation once orbital velocities in the binary exceed the virial velocity of the system. We propose that a massive gas disk surrounding a BH binary can effect its merger rapidly, in a scenario analogous to the orbital decay of super-Jovian planets due to a proto-planetary disk. As in the case of planets, gas accretion onto the secondary (here a supermassive BH) is integrally connected with its inward migration. Such accretion would give rise to quasar activity. BH binary mergers could therefore be responsible for many or most quasars.

Neutrons as Party Animals: An Analogy for Understanding Heavy-Element Fissility

NASA Astrophysics Data System (ADS)

Reed, B. Cameron

2012-12-01

I teach a general education class on the history of nuclear physics and the Manhattan Project. About halfway through the course we come to the discovery of fission and Niels Bohr's insight that it is the rare isotope of uranium, U-235, which fissions under slow-neutron bombardment as opposed to the much more common U-238 isotope. As an "explanation" of the differing responses of the two isotopes to bombarding neutrons, I use the known (measured) masses of the various isotopes involved to compute the energies released upon neutron capture and then compare them to the fission barriers of the "compound" nuclei so formed (U-236 and U-239). The energy released in the (neutron + U-235) reaction exceeds the fission barrier by about one million electron-volts (1 MeV), while that for the (neutron + U-238) case falls about 1.6 MeV short. (The fission barriers are respectively about 5.7 and 6.5 MeV.)

Metal recovery by bioleaching of sulfidic mining wastes — Application to a European case study

NASA Astrophysics Data System (ADS)

Guézennec, A. G.; Jacob, J.; Joulian, C.; Dupraz, S.; Menard, Y.; d'Hugues, P.

The non-energy extractive industry (NEEI) of the EU-25 generated a direct turnover of about €40 billion, and provided employment to about 250000 people in 16629 companies in 2004. The use of primary raw materials in the production of other branches of EU industry means they have a central role in guaranteeing industrial and economic sustainability. Nevertheless current demand exceeds production, and so the EU is heavily dependent on minerals and metals imports. In this context of securing access to metals, turning mining wastes into new resources of currently unexploited valuable metals is an important challenge. The mining wastes can contain base and precious metals, but also metalloids and rare earth elements that are nowadays considered as highly critical for the industrial development of the European Union. Nevertheless, the development of alternative routes to conventional processing is still required in order to decrease the cost associated to the treatment of these unconventional resources which are more complex in composition and with lower grades.

Drug induced acute pancreatitis: incidence and severity.

PubMed Central

Lankisch, P G; Dröge, M; Gottesleben, F

1995-01-01

To determine the incidence and severity of drug induced acute pancreatitis, data from 45 German centres of gastroenterology were evaluated. Among 1613 patients treated for acute pancreatitis in 1993, drug induced acute pancreatitis was diagnosed in 22 patients (incidence 1.4%). Drugs held responsible were azathioprine, mesalazine/sulfasalazine, 2',3'-dideoxyinosine (ddI), oestrogens, frusemide, hydrochlorothiazide, and rifampicin. Pancreatic necrosis not exceeding 33% of the organ was found on ultrasonography or computed tomography, or both, in three patients (14%). Pancreatic pseudocysts did not occur. A decrease of arterial PO2 reflecting respiratory insufficiency, and an increase of serum creatinine, reflecting renal insufficiency as complications of acute pancreatitis were seen in two (9%) and four (18%) patients, respectively. Artificial ventilation was not needed, and dialysis was necessary in only one (5%) case. Two patients (9%) died of AIDS and tuberculosis, respectively; pancreatitis did not seem to have contributed materially to their death. In conclusion, drugs rarely cause acute pancreatitis, and drug induced acute pancreatitis usually runs a benign course. PMID:7489946

Management of A Rare Case of Communicating Internal-External Inflammatory Resorption.

PubMed

Arora, Suraj; Gill, Gurdeep Singh; Saluja, Priyanka; Setia, Vikas

2015-05-01

The present case describes the successful management of a rare case of communicating internal-external resorption in which both internal and external resorption seem to develop independent of each other. The case report highlights the importance of correct diagnosis and need of revision of classification system of resorptive defects.

Management of A Rare Case of Communicating Internal-External Inflammatory Resorption

PubMed Central

Arora, Suraj; Saluja, Priyanka; Setia, Vikas

2015-01-01

The present case describes the successful management of a rare case of communicating internal-external resorption in which both internal and external resorption seem to develop independent of each other. The case report highlights the importance of correct diagnosis and need of revision of classification system of resorptive defects. PMID:26155588

Youngest case of ductal carcinoma in situ arising within a benign phyllodes tumour: A case report.

PubMed

Chopra, Sharat; Muralikrishnan, Vummiti; Brotto, Maurizio

2016-01-01

Phyllodes tumour (PT) is a rare tumour of the female breast. The tumour clinically and radiologically mimics the features of a fibroadenoma. Ductal carcinoma in situ (DCIS) in the epithelial component of PT is a very rare finding. We present youngest ever case of a 23-year-old nulliparous woman with high-grade ductal carcinoma in situ arising within a benign phyllodes tumor. Macroscopically, it is a homogeneous tumour with solid components. Microscopically, it features typical leaf-like pattern with hypercellular stroma with high-grade ductal carcinoma in situ. To date, eight such rare cases of benign phyllodes tumour with ductal carcinoma in situ have been documented. We report the youngest case known in literature so far. As this is a very rare presentation, it poses several challenges in regard to both management and follow-up. Copyright © 2016 The Authors. Published by Elsevier Ltd.. All rights reserved.

A genome-wide assessment of rare copy number variants in colorectal cancer.

PubMed

Li, Zhenli; Yu, Dan; Gan, Meifu; Shan, Qiaonan; Yin, Xiaoyang; Tang, Shunli; Zhang, Shuai; Shi, Yongyong; Zhu, Yimin; Lai, Maode; Zhang, Dandan

2015-09-22

Colorectal cancer (CRC) is a complex disease with an estimated heritability of approximately 35%. However, known CRC-related common single nucleotide polymorphisms (SNPs) can only explain ~0.65% of the heritability. This "missing heritability" may be explained partially by rare copy number variants (CNVs). In this study, we performed a genome-wide scan using Illumina Human-Omni Express BeadChip, 694 sporadic CRC cases and 1641 controls were eventually included in our analysis after quality control. The global burden analysis revealed a 1.53-fold excess of rare CNVs in CRC cases compared with controls (P < 1 × 10(-6)), and the difference being more pronounced for genic rare CNVs and CNVs overlapped with coding regions (1.65-fold and 1.84-fold, respectively, both P < 1 × 10(-6)). Interestingly, both the cases in the lowest and middle tertile of age carried a higher burden of rare CNVs comparing to the highest tertile. Furthermore, 639 CNV-disrupted genes exclusive to CRC cases were found to be significantly enriched in gene ontology (GO) terms concerning nucleosome assembly and olfactory receptor activity. Our study was the first to evaluate the burden of rare CNVs in sporadic CRC and suggested that rare CNVs contributed to the missing heritability of CRC.

ROHHAD Syndrome: The Girl who Forgets to Breathe.

PubMed

Sanklecha, Mukesh; Sundaresan, Suba; Udani, Vrajesh

2016-04-01

ROHHAD syndrome is an exceedingly rare cause of central hypoventilation. A 7-year-old girl with ROHHAD syndrome who had central hypoventilation, rapid weight gain, multiple cardiac arrests and hyperprolactinemia. She required prolonged and repeated ventilation, and finally died due to complications of ventilation. ROHHAD Syndrome should be suspected in any child who presents with obesity, behavioral changes or autonomic instability following a neural crest tumor.

Connecting Housing, Transportation & Education to Expand Opportunity: Living, Learning & Moving Together. National Policy Convening Summary

ERIC Educational Resources Information Center

Vincent, Jeff

2015-01-01

In many parts of the United States it is difficult for families, particularly low- or moderate-income families, to be able to afford a suitable home in a transit rich neighborhood with good schools. Neighborhoods with all three elements are exceedingly rare. As a result, people often have to sacrifice one of three elements to make their lives…

Tropical Spastic Paraparesis

MedlinePlus

... rare cases individuals with HAM/TSP also exhibit uveitis (inflammation of the uveal tract of the eye), ... rare cases individuals with HAM/TSP also exhibit uveitis (inflammation of the uveal tract of the eye), ...

A Rare Case: Rupture of Internal Pudendal and Uterine Artery in a Vaginal Delivery.

PubMed

Chughtai, Novera G; Rizvi, Raheela Mohsin

2018-03-01

The management of puerperal hematomas after normal delivery has always been challenging for obstetricians. Vulvar, vulvovaginal, or paravaginal hematomas are common. On the other hand, retroperitoneal hematomas are uncommon and can be life-threatening. The diagnosis of vascular injury is rarely made preoperatively as atonic or traumatic postpartum hemorrhage (PPH), uterine rupture and amniotic fluid embolism are more common differential diagnoses. Injury to internal pudendal and uterine vessels is extremely rare in cases of vaginal delivery and, therefore, the literature on this topic is very scarce. We present a rare case of both internal pudendal and uterine artery rupture in a normal vaginal delivery, which led to massive postpartum hemorrhage. The diagnosis was made on Magnetic Resonance imaging (MRI) and arterial embolization was performed. This case stresses on the need for careful post-delivery monitoring for revealed postpartum hemorrhage. Vascular injury is a rare life-threatening cause of obstetric shock, and active; and timely operative intervention can prevent morbidity and mortality.

Vincristine-induced blindness: a case report and review of literature.

PubMed

Adhikari, Subodh; Dongol, Raj Man; Hewett, Yvonne; Shah, Binay Kumar

2014-11-01

Neurotoxicity is a dose-limiting side-effect of vincristine therapy. Blindness is a rare central neurotoxicity of vincristine with few case reports. In the present article, we report a rare case of vincristine-induced blindness in a patient with diffuse large B cell lymphoma. Literature search identified eleven published cases of vincristine-induced blindness. We reviewed patient characteristics, chemotherapy used and type of blindness. Vincristine-induced blindness is rare and unpredictable. Prompt recognition and discontinuation of vincristine may lead to recovery of vision. Copyright© 2014 International Institute of Anticancer Research (Dr. John G. Delinassios), All rights reserved.

Combined pulmonary involvement in hereditary lysozyme amyloidosis with associated pulmonary sarcoidosis: a case report.

PubMed

McCarthy, Cormac; Deegan, Alexander P; Garvey, John F; McDonnell, Timothy J

2013-12-17

Sarcoidosis is a multisystem inflammatory disorder of unknown cause which can affect any organ system. Autosomal dominant lysozyme amyloidosis is a very rare form of hereditary amyloidosis. The Arg64 variant is extraordinarily rare with each family showing a particular pattern of organ involvement, however while Sicca syndrome, gastrointestinal involvement and renal failure are common, lymph node involvement is very rare. In this case report we describe the first reported case of sarcoidosis in association with hereditary lysozyme amyloidosis.

Pleomorphic Rhabdomyosarcoma Arising from True Vocal Fold of Larynx: Report of a Rare Case and Literature Review.

PubMed

Mungan, Sevdegül; Arslan, Selçuk; Küçüktülü, Eda; Ersöz, Şafak; Çobanoğlu, Bengü

2016-01-01

We present an extremely rare case of a pleomorphic rhabdomyosarcoma of the true vocal fold. The histopathological diagnosis was confirmed by immunohistochemistry. The patient was treated with radical surgery including total laryngectomy and radical neck dissection followed by postoperative radiotherapy. The clinicopathologic features of this rare malignancy are discussed together with a review of the literature. This case report and literature review highlights the more favorable prognosis of pleomorphic rhabdomyosarcoma in the larynx than in other locations.

Primary Synovial Sarcoma of External Auditory Canal: A Case Report.

PubMed

Devi, Aarani; Jayakumar, Krishnannair L L

2017-07-20

Synovial sarcoma is a rare malignant tumor of mesenchymal origin. Primary synovial sarcoma of the ear is extremely rare and to date only two cases have been published in English medical literature. Though the tumor is reported to have an aggressive nature, early diagnosis and treatment may improve the outcome. Here, we report a rare case of synovial sarcoma of the external auditory canal in an 18-year-old male who was managed by chemotherapy and referred for palliation due to tumor progression.

[Uterine rupture plugged by omentum in a rudimentary horn pregnancy: About a rare case].

PubMed

Le Mitouard, M; Huissoud, C; Fichez, A; Roumieu, F; Allias, F; Rudigoz, R C; Caloone, J

2016-05-01

Pregnancy in a rudimentary horn of a pseudo-horned uterus is a rare obstetrical situation, for which, maternal-fetal prognosis is altered by the risk of uterine rupture. We report a rare case of pregnancy in a rudimentary horn with birth of a living child at 28 weeks of amenorrhea. During caesarean, uterine rupture plugged by the omentum was observed. We discuss from this case obstetric management of this pathology. Copyright © 2016. Published by Elsevier Masson SAS.

Spatial targeting of interventions against malaria.

PubMed Central

Carter, R.; Mendis, K. N.; Roberts, D.

2000-01-01

Malaria transmission is strongly associated with location. This association has two main features. First, the disease is focused around specific mosquito breeding sites and can normally be transmitted only within certain distances from them: in Africa these are typically between a few hundred metres and a kilometre and rarely exceed 2-3 kilometres. Second, there is a marked clustering of persons with malaria parasites and clinical symptoms at particular sites, usually households. In localities of low endemicity the level of malaria risk or case incidence may vary widely between households because the specific characteristics of houses and their locations affect contact between humans and vectors. Where endemicity is high, differences in human/vector contact rates between different households may have less effect on malaria case incidences. This is because superinfection and exposure-acquired immunity blur the proportional relationship between inoculation rates and case incidences. Accurate information on the distribution of malaria on the ground permits interventions to be targeted towards the foci of transmission and the locations and households of high malaria risk within them. Such targeting greatly increases the effectiveness of control measures. On the other hand, the inadvertent exclusion of these locations causes potentially effective control measures to fail. The computerized mapping and management of location data in geographical information systems should greatly assist the targeting of interventions against malaria at the focal and household levels, leading to improved effectiveness and cost-effectiveness of control. PMID:11196487

Spatial targeting of interventions against malaria.

PubMed

Carter, R; Mendis, K N; Roberts, D

2000-01-01

Malaria transmission is strongly associated with location. This association has two main features. First, the disease is focused around specific mosquito breeding sites and can normally be transmitted only within certain distances from them: in Africa these are typically between a few hundred metres and a kilometre and rarely exceed 2-3 kilometres. Second, there is a marked clustering of persons with malaria parasites and clinical symptoms at particular sites, usually households. In localities of low endemicity the level of malaria risk or case incidence may vary widely between households because the specific characteristics of houses and their locations affect contact between humans and vectors. Where endemicity is high, differences in human/vector contact rates between different households may have less effect on malaria case incidences. This is because superinfection and exposure-acquired immunity blur the proportional relationship between inoculation rates and case incidences. Accurate information on the distribution of malaria on the ground permits interventions to be targeted towards the foci of transmission and the locations and households of high malaria risk within them. Such targeting greatly increases the effectiveness of control measures. On the other hand, the inadvertent exclusion of these locations causes potentially effective control measures to fail. The computerized mapping and management of location data in geographical information systems should greatly assist the targeting of interventions against malaria at the focal and household levels, leading to improved effectiveness and cost-effectiveness of control.

Human chorionic gonadotropin-induced hyperthyroidism in germ cell cancer--a case presentation and review of the literature.

PubMed

Voigt, Wieland; Maher, Gita; Wolf, Hans-Heinrich; Schmoll, Hans-Joachim

2007-06-01

Human chorionic gonadotropin (hCG)-induced hyperthyroidism represents a rare paraneoplastic syndrome in hCG-secreting testicular cancer. In most cases, this hyperthyroidism remains subclinical. hCG belongs to the family of glycoprotein hormones with structural homology to thyroid- stimulating hormone (TSH). The thyrotropic potency and thereby the degree of cross reactivity of hCG is determined by several factors, such as content of sialic acid or lack of the C-terminal tail. In the absence of clinical signs of hyperthyroidism, treatment usually consists of specific antitumor therapy which will result in normalization of thyroid function if hCG declines. Where there are clinical signs of hyperthyroidism, overlapping thyreostatic treatment is recommended. Here, we report of a young man presenting biochemical signs of hyperthyroidism without clinical signs at the time of diagnosis of non-seminomatous germ cell cancer. Beta-hCG initially exceeded 1,000,000 IU/ml and declined close to normal at the end of cancer treatment. Concomitantly, thyroid hormones returned to the normal range without any thyreostatic therapy. We observed a significant correlation of neta-hCG and thyroid hormones in linear regression analysis (r2 = 0.98, p< 0.05). A concise overview of potential mechanisms of hCG-induced hyperthyroidism in germ cell cancer but also in pregnancy is given and the case discussed according to the cited literature.

Bilateral Cystic Lymphangioma of Ovary Associated with Chylous Ascites.

PubMed

Nerune, Savitri Mallikarjun; Arakeri, Surekha Ulhas; Patil, Vijaya L; Mulay, Himanshu Dilip

2015-08-01

Intraabdominal cystic lymphangiomas are rare and are located in retroperitoneum, mesentery, omentum and other visceral organs. Lymphangiomas of the ovary are rare and are usually unilateral. Cases with bilateral cystic lymphangiomas of the ovary are reported very rarely in literature. We report a rare case of bilateral cystic lymphangioma of ovary associated with chylous ascites in a 35-year-old lady who presented with complaints of severe dysmenorrhoea and oligomenorrhoea since 6 months with history of chyluria for the past 3 years.

Bilateral Cystic Lymphangioma of Ovary Associated with Chylous Ascites

PubMed Central

Arakeri, Surekha Ulhas; Patil, Vijaya L.; Mulay, Himanshu Dilip

2015-01-01

Intraabdominal cystic lymphangiomas are rare and are located in retroperitoneum, mesentery, omentum and other visceral organs. Lymphangiomas of the ovary are rare and are usually unilateral. Cases with bilateral cystic lymphangiomas of the ovary are reported very rarely in literature. We report a rare case of bilateral cystic lymphangioma of ovary associated with chylous ascites in a 35-year-old lady who presented with complaints of severe dysmenorrhoea and oligomenorrhoea since 6 months with history of chyluria for the past 3 years. PMID:26435959

31 CFR 29.342 - Computed annuity exceeds the statutory maximum.

Code of Federal Regulations, 2011 CFR

2011-07-01

...) In cases in which the total computed annuity exceeds the statutory maximum: (1) Federal Benefit... sufficient service as of June 30, 1997, to reach the statutory maximum benefit, but has sufficient service at...

High Grade Serous Cystadenocarcinoma of Testis-Case Report of a Rare Ovarian Epithelial Type Tumour

PubMed Central

Nayanar, Sangeetha K; Varadharajaperumal, R; Satheeshbabu, TV; Balasubramanian, Satheesan

2017-01-01

Ovarian epithelial type tumour of testis are extremely rare tumours that resemble ovarian surface epithelial tumours. They usually present as testicular or paratesticular tumours and can be serous, mucinous, endometrioid or Brenner tumour. Serous and mucinous types account for the majority of tumours. The tumours are benign, borderline or malignant, commonly borderline. Here, we report a case of high grade serous cyst adenocarcinoma of testis which manifested as extensive metastasis in supraclavicular, mediastinal and abdominopelvic groups of lymph nodes, lung and adrenal gland without clinical evidence of an overt primary tumour. We report this case so as to make clinicians and pathologists aware of this rare entity and to stress on the fact that this rare entity should be kept in mind when evaluating cases of metastatic adenocarcinoma in male patients. PMID:28764180

Glial heterotopia in an adult: A rare orbital mass.

PubMed

Sundaresh, Divya Dabir; Mangala Gouri, S R

2016-11-01

Heterotopic glial tissue is very rare in the orbit. Our case was an adult, which is unique since most cases reported in literature involve children. We describe a case of a 60-year-old man who presented with an orbital mass, which histopathologically revealed heterotopic glial tissue.

Ameloblastic fibrosarcoma: Report of a case

PubMed Central

Akinyamoju, Akindayo O; Olusanya, Adeola A; Adeyemi, Bukola F; Kolude, B

2013-01-01

Ameloblastic fibrosarcoma (AFS) is a rare odontogenic malignancy with benign epithelial and malignant ectomesenchymal components. About 66 cases have been reported in the medical literature. We therefore report an additional case as well as a review of literature to add to the existing knowledge on this rare lesion. PMID:24574665

Pan-brachial plexus neuropraxia following lightning: A rare case report.

PubMed

Patnaik, Ashis; Mahapatra, Ashok Kumar; Jha, Menka

2015-01-01

Neurological complications following lightning are rare and occur in form of temporary neurological deficits of central origin. Involvement of peripheral nervous system is extremely rare and only a few cases have been described in the literature. Isolated unilateral pan-brachial plexus neuropraxia has never been reported in the literature. Steroids have long been used for treatment of neuropraxia. However, their use in lightning neural injury is unique and requires special mention. We report a rare case of lightning-induced unilateral complete flaccid paralysis along with sensory loss in a young patient. Lightning typically causes central nervous involvement in various types of motor and sensory deficit. Surprisingly, the nerve conduction study showed the involvement of peripheral nervous system involvement. Steroids were administered and there was significant improvement in neurological functions within a short span of days. Patients' functions in the affected limb were normal in one month. Our case was interesting since it is the first such case in the literature where lightning has caused such a rare instance of unilateral pan-brachial plexus lesion. Such cases when seen, raises the possibility of more common central nervous system pathology rather than peripheral involvement. However, such lesions can be purely benign forms of peripheral nerve neuropraxia, which can be managed by steroid treatment without leaving any long-term neurological deficits.

Unusual Dermatological Manifestations of Gout: Review of Literature and a Case Report

PubMed Central

Ortega, Viviana Gómez; Gaona, Jennifer; Motta, Adriana; Medina Barragán, Oskar Javier

2015-01-01

Background: Gouty panniculitis is a rare clinical manifestation of gout, characterized by deposits of monosodium urate crystals in the hypodermis. Our aim was to describe atypical and rare clinical presentations of gouty tophi. Methods: We searched relevant English and Spanish literature of unusual gout manifestations using the following keywords: giant, gout, panniculitis, gouty panniculitis, gouty tophi, rare manifestations of gout, gouty, tophi, tophus, monosodium urate, uric acid, and unusual. Well-described case reports, case series, and review articles were evaluated and included in the literature review. Results: International literature has reported fewer than 10 cases of gouty panniculitis worldwide. In this case report, the patient presents a rare manifestation of gouty panniculitis, with typical joint injuries, gouty tophi in both lower and upper extremities, chronic gouty tophi in the nose, for which only 3 cases have been reported in literature, and great hypertrophy of adipose tissue in the lower back. Conclusions: Tophi can be found in atypical locations, which increase morbidities and deformities caused by the disease. We report an interesting case of gouty panniculitis associated with great hypertrophy of the adipose tissue, a rare manifestation of gout, and unusual locations of tophi. These clinical manifestations in our patient have not been recorded before, which leads us to think that we are in the presence of a new dermatological manifestation of gout. PMID:26301134

Neuroblastoma-like schwannoma in a case of schwannomatosis: Report of a rare case

PubMed Central

Sulhyan, Kalpana R; Deshmukh, Bhakti D; Gosavi, Alka V; Ramteerthakar, Nayan A

2015-01-01

Schwannomatosis is a term used to describe patients with multiple nonvestibular schwannomas with no other stigmata of neurofibromatosis type-2 (NF2). Neuroblastoma-like schwannoma is a rare subtype of schwannoma, with histological features resembling a neuroblastoma. This case is probabaly the second case of very uncommon neuroblastoma-like schwannoma, in a patient of schwannomatosis. PMID:26715928

Neuroblastoma-like schwannoma in a case of schwannomatosis: Report of a rare case.

PubMed

Sulhyan, Kalpana R; Deshmukh, Bhakti D; Gosavi, Alka V; Ramteerthakar, Nayan A

2015-10-01

Schwannomatosis is a term used to describe patients with multiple nonvestibular schwannomas with no other stigmata of neurofibromatosis type-2 (NF2). Neuroblastoma-like schwannoma is a rare subtype of schwannoma, with histological features resembling a neuroblastoma. This case is probabaly the second case of very uncommon neuroblastoma-like schwannoma, in a patient of schwannomatosis.

A rare case report and appraisal of the literature on spontaneous tooth exfoliation associated with trigeminal herpes zoster.

PubMed

Kaur, Rupinder; Rani, Pooja; Malhotra, Divye; Kaur, Rajwant; Dass, Praveen Kumar

2016-09-01

Reports of post herpetic maxillofacial complications have been very rarely documented in the literature that includes periapical lesions, calcified and devitalized pulps, resorption of roots, osteonecrosis, and spontaneous exfoliation of teeth. The atypical feature of the case of concern to the dental surgeon is the rare complication of spontaneous tooth exfoliation following herpes zoster. This case reports a male patient of age 47 years who reported to the Department of Periodontology with the chief complaint of mobility in the left upper central incisor. Patient history revealed herpes zoster infection that began 11 days earlier along with underlying diabetes mellitus condition. We hereby report a known diabetic patient with history of herpes zoster infection who presented with rare complication of spontaneous tooth exfoliation involving the maxillary division of the trigeminal nerve. Limited number of cases has been reported in the literature regarding spontaneous teeth exfoliation secondary to herpes zoster. The exact pathogenesis regarding the spontaneous exfoliation of teeth in herpes zoster patient is still controversial. Thus, an oral health care provider should be aware of this rare complication while managing a case of tooth mobility with the previous history of herpes zoster of trigeminal nerve.

Neurosurgical rare disease: solitary plasmacytoma of the skull - case report and literature review.

PubMed

Rizea, Radu Eugen; Popescu, Mihai; Gheorghiţă, Karina Lidia; Popescu, George; Neamţu, Marius Cristian; Busuioc, Cristina Jana; Ciurea, Alexandru Vlad

2018-01-01

Solitary extranevraxial plasmacytoma (SEP), as a clinical entity without signs of systemic myelomatosis, is extremely rare; it is difficult to find literature on the issue of patient management and proper course of action in the presence of associated pathology. The authors present a rare case of plasmacytoma of the skull vault associated with severe cardiac pathology, which made surgery extremely difficult and possible only through temporization of the interventions, as presented. We discuss our findings and opportunities for treatment in this case, which seemed unapproachable at presentation, in connection with the associated cardiac pathology. The case was followed-up for eight years with no recurrences.

[A rare case of diencephalic cachexia in an adult female with cranio-pharyngioma].

PubMed

Klochkova, I S; Astaf'eva, L I; Konovalov, A N; Kadashev, B A; Kalinin, P L; Sharipov, O I; Kutin, M A; Sidneva, Yu G; Shishkina, L V; Pronin, I N

Diencephalic cachexia (DС) is progressive weight loss despite a normal caloric intake and a satisfactory state of health, which is caused by hypothalamic lesions. This is a rare (about 100 cases were reported) and potentially fatal disorder of unknown pathogenesis. At present, there is no effective pharmacological therapy for the disorder. Cachexia may regress only if the tumor reduces in size, therefore the timely diagnosis and treatment are of vital importance for the patient. DС is typical of early childhood, and only a few cases have been reported in adults. We present a rare case of DС in a 24-year-old female with papillary craniopharyngioma.

A rare giant scalp dermatofibrosarcoma protuberans

PubMed Central

Arifin, Muhammad Z.; Yudoyono, Farid; Dahlan, Rully H.; Hernowo, Bethy S.; Sutiono, Agung B.; Faried, Ahmad

2014-01-01

Background: Giant dermatofibrosarcoma protuberans (DFSP) of the scalp is a rare case, which is an intermediate grade soft tissue neoplasm originating from the dermal layer of the skin, which usually occurs in adults. Case Description: We describe such a case in a 26-year-old male. A wide local excision of the tumor with a generous tissue margin was performed; microscopic and immunohistochemical findings established the diagnosis of recurrent DFSP. Conclusion: Our case is unique in that it is presented as a dermatofibrosarcoma protuberans of the scalp, which is an extremely rare clinical entity, and the patient remains well after 14 months with no further treatment, without any tumor recurrence. PMID:24818052

A rare case of complete second arch branchial fistula in a 7-year-old child.

PubMed

Shankar, Venkateswara Gomathi; Babu, Thirunavukkarasu Arun; Swami, Hartimath Basavanand

2012-07-01

Branchial fistulae are formed due to the abnormal persistence of the embryonic branchial clefts. Complete branchial fistula with internal and external opening is extremely rare. We report a rare case of complete second arch branchial fistulae in a 7-year-old boy, which was confirmed by a fistulogram. The tract was completely excised and the patient was successfully treated.

A rare case of laryngotracheal chondrosarcoma in a patient with past history of radioiodine therapy for thyroid cancer.

PubMed

Mohajeri, Gholamreza; Hekmatnia, Ali; Ahrar, Hossein; Hekmatnia, Farzane; Nia, Reza Basirat; Afsharmoghadam, Nushin; Eftekhari, Mehdi; Jafarpishe, Saleh

2013-01-01

Tracheal chondrosarcoma is a rare malignant mesenchymal tumor and there are less than 15 reports in the literature. We report a rare case of laryngotracheal chondrosarcoma in a 74-year-old man. He gave a history of radioiodine therapy for thyroid papillary carcinoma about 24 years ago. Diagnostic steps, histological presentation, and therapy are described in detail.

Mixed malignant germ cell tumour of third ventricle with hydrocephalus: a rare case with recurrence.

PubMed

Kishore, Manjari; Monappa, Vidya; Rao, Lakshmi; Kudva, Ranjini

2014-11-01

Malignant Germ Cell Tumours (GCTs) are rare, accounting for 3% of intracranial tumours and just like their extracranial counterparts represent a wide array of disease. Combination of Germinoma with Teratoma is very rare. Here in, we describe a case of Mixed Malignant Germ cell tumor of third ventricle with recurrence with emphasis on histopathological and radiological findings.

Incidental De Garengeot’s hernia: A case report of dual pathology to remember

PubMed Central

Whitehead-Clarke, Thomas; Parampalli, Umesh; Bhardwaj, Rakesh

2015-01-01

Introduction A De Garengeot’s hernia is the very rare dual pathology of a vermiform appendix within a femoral hernia. Presentation of case We discuss the rare case of a 62 year old female who presented as an emergency with a strangulated femoral hernia. Within the hernia sac a partly necrotic vermiform appendix was discovered. The patient successfully underwent an appendicectomy and repair of her femoral hernia. The post-operative period was uneventful, with no further issues at follow-up. Discussion Our case report displays the successful treatment of a De Garengeot's hernia as an emergency admission, with a shorter than average admission time, and no post-operative complications. Conclusion This is a rare case of dual pathology, of which we believe there are few published cases. PMID:26520035

Gorlin Syndrome with Bilateral Polydactyly: A Rare Case Report

PubMed Central

Acharya, Sonu; Panda, Swagatika; Sahoo, Sujit Ranjan; Ray, Prayas

2013-01-01

ABSTRACT Gorlin's syndrome is a rare disorder transmitted as an autosomal dominant trait. It is characterized by multiple disorders involving multiple systems. We present a case of 11-year-old male child presenting with multiple odontogenic keratocyst to the dental clinic. Retrograde diagnosis of Gorlin-Goltz syndrome was made after clinical and radiological investigation. How to cite this article: Acharya S, Panda S, Dhull KS, Sahoo SR, Ray P. Gorlin Syndrome with Bilateral Polydactyly: A Rare Case Report. Int J Clin Pediatr Dent 2013;6(3):208-212. PMID:25206225

Gorlin syndrome with bilateral polydactyly: a rare case report.

PubMed

Acharya, Sonu; Panda, Swagatika; Singh Dhull, Kanika; Sahoo, Sujit Ranjan; Ray, Prayas

2013-09-01

Gorlin's syndrome is a rare disorder transmitted as an autosomal dominant trait. It is characterized by multiple disorders involving multiple systems. We present a case of 11-year-old male child presenting with multiple odontogenic keratocyst to the dental clinic. Retrograde diagnosis of Gorlin-Goltz syndrome was made after clinical and radiological investigation. How to cite this article: Acharya S, Panda S, Dhull KS, Sahoo SR, Ray P. Gorlin Syndrome with Bilateral Polydactyly: A Rare Case Report. Int J Clin Pediatr Dent 2013;6(3):208-212.

A rare case of extra-nasopharyngeal angiofibroma of the septum in a female child.

PubMed

Singh, G B; Shukla, S; Kumari, P; Shukla, I

2018-02-01

Extra-nasopharyngeal angiofibroma is a rare but distinct clinical entity, different from juvenile angiofibroma. This clinical record elucidates the only case of extra-nasopharyngeal angiofibroma arising from the septum in a female child, who presented with epistaxis. The histopathological diagnosis was confirmed by immunohistochemistry, and the case was managed surgically with no recurrence. In a female paediatric patient presenting with epistaxis, extra-nasopharyngeal angiofibroma (of the inferior turbinate) is a rare albeit important differential diagnosis, as it challenges the hormonal theory of angiofibroma aetiopathogenesis.

A rare case of a sharp foreign body on the vocal cord.

PubMed

Nor Hisyam, C I; Misron, K; Mohamad, I

2017-01-01

A foreign body (FB) in the upper aerodigestive tract is a common clinical problem that presents as as acute emergency. Sharp FB, such as fish bone or chicken bone, commonly lodges in the tonsil, base of tongue, vallecula or pyriform fossa. Dislodgement of a FB into the laryngopharynx is very rare and specifically onto the vocal cord is extremely uncommon. This case report illustrates a rare case of a sharp FB that was dislodged into the airway and stuck on to the right vocal cord, which was removed under local anaesthesia.

A very rare case of bloody tears with enigmatic epistaxis and haematuria.

PubMed

Ho, Jason Z S; de Silva, Julian; Olver, Jane

2011-03-01

Bloody tears are a rare symptom that can be caused by local or systemic pathology. We describe a very rare case of bloody tears that resulted from hyperthyroidism. A 15-year-old female patient presented with a 6-month history of bloody tears and epistaxis. Examination excluded local ocular and nasal pathology, including neoplasm and coagulopathy. Systemic investigations identified elevated thyroid function and following treatment her symptoms resolved. We discuss the mechanism by which hyperthyroidism may induce haemostatic dysfunction. We present the first case of bloody tears secondary to thyroid dysfunction.

Metastatic Breast Cancer in Uterine Cervix: A Rare Presentation.

PubMed

Proença, Sara; Reis, Maria Inês; Cominho, Joana; Conde, Pedro Casado; Santos E Pereira, Helena; Ribeiro, Filipa Castro

2016-01-01

Uterine cervix involvement by a distant primary tumor is a rare event. We report the following 2 cases of breast tumor metastasis to the uterine cervix with different presentations: case 1 is an isolated cervix metastasis and case 2 is a disseminated metastatic disease with cervix involvement. In both, clinical examination raised the suspicion of cervical tumor, which was confirmed to be a metastatic adenocarcinoma.The poor outcome and lack of symptoms suggest that although its rareness, all patients with breast cancer should undergo a careful routine gynecologic examination.

Aneurysmal Bone Cysts of the Spine: Two Case Reports

PubMed Central

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

2014-01-01

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

Aneurysmal bone cysts of the spine: two case reports.

PubMed

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

2014-12-01

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

Primary Synovial Sarcoma of External Auditory Canal: A Case Report

PubMed Central

Jayakumar, Krishnannair l L

2017-01-01

Synovial sarcoma is a rare malignant tumor of mesenchymal origin. Primary synovial sarcoma of the ear is extremely rare and to date only two cases have been published in English medical literature. Though the tumor is reported to have an aggressive nature, early diagnosis and treatment may improve the outcome. Here, we report a rare case of synovial sarcoma of the external auditory canal in an 18-year-old male who was managed by chemotherapy and referred for palliation due to tumor progression. PMID:28948118

Electronic interaction anisotropy between open-shell lanthanide atoms and helium from cold collision experiment

NASA Astrophysics Data System (ADS)

Krems, R. V.; Buchachenko, A. A.

2005-09-01

Based on measurements of the Zeeman relaxation in a cold gas of He3 [C. I. Hancox, S. C. Doret, M. I. Hummon, L. Luo, and J. M. Doyle, Nature (London) 431, 281 (2004)], we show that the electronic interaction anisotropy between rare-earth atoms with nonzero electronic orbital angular momenta and helium is extremely small. The interaction of the rare-earth atoms with He gives rise to several adiabatic potentials with different electronic symmetries. It is demonstrated that the energy splitting between these potentials does not exceed 0.09cm-1 at interatomic distances larger than the turning point for collisions at 0.8K, including the region of the van der Waals interaction minima.

Micrandra inundata (Euphorbiaceae), a new species with unusual wood anatomy from black-water river banks in southern Venezuela

Treesearch

Paul E. Berry; Alex C. Wiedenhoeft

2004-01-01

Micrandra inundata is a distinctive new species adapted to seasonally flooded black-water river banks in southern Venezuela. Trees rarely exceed 10 m in height but have thick basal trunks composed of very lightweight wood. It has the smallest leaves and fruits of any known Micrandra species and appears to be most closely related to M. minor Benth. The botanical...

Typhoid ulcer causing life-threatening bleeding from Dieulafoy's lesion of the ileum in a seven-year-old child: a case report

PubMed Central

2010-01-01

Introduction We describe a case of rare complication of typhoid fever in a seven-year-old child and review the literature with regard to other rare causes of bleeding per rectum. Dieulafoy's lesion is an uncommon but important cause of recurrent gastrointestinal bleeding. Dieulafoy's lesion located extragastrically is rare. We report a case of typhoid ulcer with Dieulafoy's lesion of the ileum causing severe life-threatening bleeding and discuss the management of this extremely uncommon entity. Case presentation As a complication of typhoid fever, a seven-year-old Kurdish girl from Northern Iraq developed massive fresh bleeding per rectum. During colonoscopy and laparotomy, she was discovered to have multiple bleeding ulcers within the Dieulafoy's lesion in the terminal ileum and ileocecal region. Conclusion Although there is no practical way of predicting the occurrence of such rare complications, we emphasize in this case report the wide array of pathologies that can result from typhoid fever. PMID:20525295

Long-Range Memory in Literary Texts: On the Universal Clustering of the Rare Words.

PubMed

Tanaka-Ishii, Kumiko; Bunde, Armin

2016-01-01

A fundamental problem in linguistics is how literary texts can be quantified mathematically. It is well known that the frequency of a (rare) word in a text is roughly inverse proportional to its rank (Zipf's law). Here we address the complementary question, if also the rhythm of the text, characterized by the arrangement of the rare words in the text, can be quantified mathematically in a similar basic way. To this end, we consider representative classic single-authored texts from England/Ireland, France, Germany, China, and Japan. In each text, we classify each word by its rank. We focus on the rare words with ranks above some threshold Q and study the lengths of the (return) intervals between them. We find that for all texts considered, the probability SQ(r) that the length of an interval exceeds r, follows a perfect Weibull-function, SQ(r) = exp(-b(β)rβ), with β around 0.7. The return intervals themselves are arranged in a long-range correlated self-similar fashion, where the autocorrelation function CQ(s) of the intervals follows a power law, CQ(s) ∼ s-γ, with an exponent γ between 0.14 and 0.48. We show that these features lead to a pronounced clustering of the rare words in the text.

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

PubMed

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

2014-10-01

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

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.

[Early diffuse hypertrophic osteitis recurrence. Unexpected and consternating development after a large évidement cavity. Apropos of 15 cases].

PubMed

Fleury, P; Basset, J M; Candau, P; Bré, M; Despreaux, G; Fabre, A; Saliba, N

1985-01-01

The authors report 15 cases collected over a period of 13 years (1972 - 1984) of a particularly serious eventuality affecting certain evacuation cavities: Early recurrence of diffuse hypertrophic osteitis (E.R.D.H.O.). This is a rare complication, occurring in 1.5% of cases of chronic otitis. However, the fact of having operated upon 7 cases in 1984 alone, whilst during the previous 12 years, only 8 had been seen, raised the alarm. The classical pattern of this complication occurs in 3 stages, each involving surgical operation: at the outset, chronic otitis with cholesteatoma or osteitis, most often mixed, for which an "inadequate" surgical procedure is performed. then, after a variable period which may exceed 10 years, a very large evacuation cavity was created by the authors. finally, 3rd and final stage: within 6 months, this cavity filled progressively and, at operation, the authors discovered a cavity virtually completely filled with a "fantastic" "moist sugar" osteitis, requiring a new evacuation cavity, even larger than that created before. In all cases, a successful result was obtained within a varying period, sometimes accompanied by spectacular improvement in general condition. The most plausible etiopathogenic hypothesis advanced to attempt to explain this phenomenon is that of secondary infection by a varied microbial flora, including, on the one hand, aerobic organisms usually discovered in such cases (pseudomonas pyocyaneus, proteus mirabilis) and, secondly, this being of essential importance, "anaerobic" bacteria, the bacteriological diagnosis of which requires application of a strict protocol. The authors have taken three decisions following their bibliographic investigations.(ABSTRACT TRUNCATED AT 250 WORDS)

Native Valve Endocarditis due to Ralstonia pickettii: A Case Report and Literature Review.

PubMed

Orme, Joseph; Rivera-Bonilla, Tomas; Loli, Akil; Blattman, Negin N

2015-01-01

Ralstonia pickettii is a rare pathogen and even more rare in healthy individuals. Here we report a case of R. pickettii bacteremia leading to aortic valve abscess and complete heart block. To our knowledge this is the first case report of Ralstonia species causing infective endocarditis with perivalvular abscess.

A Rare Case of Port-a-Cath Migration into the Mediastinum.

PubMed

Shah, B K; Srijan Tandukar, S; Shrestha, S; Sanchirico, P

2014-07-03

Port-a-cath is commonly used in patients who require frequent administration of intravenous medications. We describe a rare case of port-a-cath migration into the mediastinum 16 months after its insertion.

Utilising family-based designs for detecting rare variant disease associations.

PubMed

Preston, Mark D; Dudbridge, Frank

2014-03-01

Rare genetic variants are thought to be important components in the causality of many diseases but discovering these associations is challenging. We demonstrate how best to use family-based designs to improve the power to detect rare variant disease associations. We show that using genetic data from enriched families (those pedigrees with greater than one affected member) increases the power and sensitivity of existing case-control rare variant tests. However, we show that transmission- (or within-family-) based tests do not benefit from this enrichment. This means that, in studies where a limited amount of genotyping is available, choosing a single case from each of many pedigrees has greater power than selecting multiple cases from fewer pedigrees. Finally, we show how a pseudo-case-control design allows a greater range of statistical tests to be applied to family data. © 2014 The Authors. Annals of Human Genetics published by John Wiley & Sons Ltd/University College London.

Rare, evolutionarily unlikely missense substitutions in CHEK2 contribute to breast cancer susceptibility: results from a breast cancer family registry case-control mutation-screening study.

PubMed

Le Calvez-Kelm, Florence; Lesueur, Fabienne; Damiola, Francesca; Vallée, Maxime; Voegele, Catherine; Babikyan, Davit; Durand, Geoffroy; Forey, Nathalie; McKay-Chopin, Sandrine; Robinot, Nivonirina; Nguyen-Dumont, Tù; Thomas, Alun; Byrnes, Graham B; Hopper, John L; Southey, Melissa C; Andrulis, Irene L; John, Esther M; Tavtigian, Sean V

2011-01-18

Both protein-truncating variants and some missense substitutions in CHEK2 confer increased risk of breast cancer. However, no large-scale study has used full open reading frame mutation screening to assess the contribution of rare missense substitutions in CHEK2 to breast cancer risk. This absence has been due in part to a lack of validated statistical methods for summarizing risk attributable to large numbers of individually rare missense substitutions. Previously, we adapted an in silico assessment of missense substitutions used for analysis of unclassified missense substitutions in BRCA1 and BRCA2 to the problem of assessing candidate genes using rare missense substitution data observed in case-control mutation-screening studies. The method involves stratifying rare missense substitutions observed in cases and/or controls into a series of grades ordered a priori from least to most likely to be evolutionarily deleterious, followed by a logistic regression test for trends to compare the frequency distributions of the graded missense substitutions in cases versus controls. Here we used this approach to analyze CHEK2 mutation-screening data from a population-based series of 1,303 female breast cancer patients and 1,109 unaffected female controls. We found evidence of risk associated with rare, evolutionarily unlikely CHEK2 missense substitutions. Additional findings were that (1) the risk estimate for the most severe grade of CHEK2 missense substitutions (denoted C65) is approximately equivalent to that of CHEK2 protein-truncating variants; (2) the population attributable fraction and the familial relative risk explained by the pool of rare missense substitutions were similar to those explained by the pool of protein-truncating variants; and (3) post hoc power calculations implied that scaling up case-control mutation screening to examine entire biochemical pathways would require roughly 2,000 cases and controls to achieve acceptable statistical power. This study shows that CHEK2 harbors many rare sequence variants that confer increased risk of breast cancer and that a substantial proportion of these are missense substitutions. The study validates our analytic approach to rare missense substitutions and provides a method to combine data from protein-truncating variants and rare missense substitutions into a one degree of freedom per gene test.

Fourth branchial complex anomalies: a case series.

PubMed

Shrime, Mark; Kacker, Ashutosh; Bent, John; Ward, Robert F

2003-11-01

Anomalies of the fourth branchial arch complex are exceedingly rare, with approximately forty cases reported in the literature since 1972. The authors report experience with six fourth arch anomalies. Retrospective chart review of six consecutive patients presenting to the pediatric otolaryngology service at a tertiary care center with anomalies referable to the fourth branchial arch. All six patients presented within the first or second decade of life. All six had left-sided disease. Four patients presented with recurrent neck infection, one with asymptomatic cervical masses, and one with a neck mass and respiratory compromise. One patient had prior surgery presented with a recurrence. Diagnosis of fourth arch anomalies was suggested or confirmed by computed tomography and flexible laryngoscopy. Treatment was surgical in five patients; one patient is awaiting surgery. Surgical procedures included resection of the mass and endoscopic cauterization of the inner opening of the cyst. The presentation of a cervical mass, especially with recurrent infections and especially on the left side, in a child in the first or second decade of life heightens suspicion for an anomaly of the fourth branchial arch. Diagnosis can be difficult, but is aided by the use of flexible laryngoscopy, Computed tomography (CT) scanning and ultrasonography. Surgical resection of the cyst and cauterization of its pyriform sinus opening should be undertaken to minimize recurrence.

[A Case of Severe Chronic Active Epstein-Barr Virus Infection with Aplastic Anemia and Hepatitis].

PubMed

Lee, Ja In; Lee, Sung Won; Han, Nam Ik; Ro, Sang Mi; Noh, Yong-Sun; Jang, Jeong Won; Bae, Si Hyun; Choi, Jong Young; Yoon, Seung Kew

2016-01-25

Epstein-Barr virus (EBV) causes various acute and chronic diseases. Chronic active EBV infection (CAEBV) is characterized by infectious mononucleosis-like symptoms that persist for more than 6 months with high viral loads in peripheral blood and/or an unusual pattern of anti-EBV antibodies. Severe CAEBV is associated with poor prognosis with severe symptoms, an extremely high EBV-related antibody titer, and hematologic complications that often include hemophagocytic lymphohistiocytosis. However, CAEBV which led to the development of aplastic anemia (AA) has not been reported yet. A 73-year-old woman was admitted to our hospital with intermittent fever, general weakness and elevated liver enzymes. In the serologic test, EBV-related antibody titer was elevated, and real-time quantitative-PCR in peripheral blood showed viral loads exceeding 10(4) copies/μg DNA. Liver biopsy showed characteristic histopathological changes of EBV hepatitis and in situ hybridization with EBV-encoded RNA-1 was positive for EBV. Pancytopenia was detected in peripheral blood, and the bone marrow aspiration biopsy showed hypocellularity with replacement by adipocytes. AA progressed and the patient was treated with prednisolone but deceased 8 months after the diagnosis due to multiple organ failure and opportunistic infection. Herein, we report a rare case of severe CAEBV in an adult patient accompanied by AA and persistent hepatitis.

Disseminated Exophiala dermatitidis causing septic arthritis and osteomyelitis.

PubMed

Lang, Raynell; Minion, Jessica; Skinner, Stuart; Wong, Alexander

2018-06-04

Exophiala dermatitidis is a melanized fungus isolated from many environmental sources. Infections caused by Exophiala species are typically seen in immunocompromised hosts and manifest most commonly as cutaneous or subcutaneous disease. Systemic infections are exceedingly rare and associated with significant morbidity and mortality CASE PRESENTATION: A 28-year-old female originally from India presented with fevers, chills, weight loss and increasing back pain. She had a recent diffuse maculopapular rash that resulted in skin biopsy and a tentative diagnosis of sarcoidosis, leading to administration of azathioprine and prednisone. An MRI of her spine revealed a large paraspinal abscess requiring surgical intervention and hardware placement. Cultures from the paraspinal abscess grew a colony of dark pigmented mold. Microscopy of the culture revealed a melanized fungus, identified as Exophiala dermatitidis. Voriconazole was initially utilized, but due to relapse of infection involving the right iliac crest and left proximal humerus, she received a prolonged course of amphotericin B and posaconazole in combination and required 7 separate surgical interventions. Prolonged disease stability following discontinuation of therapy was achieved. Described is the first identified case of disseminated Exophiala dermatitidis causing osteomyelitis and septic arthritis in a patient on immunosuppressive therapy. A positive outcome was achieved through aggressive surgical intervention and prolonged treatment with broad-spectrum antifungal agents.

Shot by a Gun … Missed by a Provider.

PubMed

Garcia, Eddie; Zaid, Abdul H; Calello, Diane P; McHugh, Lisa; Arzumanov, Grant; Asrar, Najaf; Sapin, Ari; Fless, Kristin G

2018-04-01

Botulism is a paralytic disease caused by the neurotoxin produced by Clostridium botulinum. The majority of cases are due to ingestion or injection drug use. Wound botulism from traumatic injury is exceedingly rare, with only one to two cases reported each year in the United States. A 27-year-old man presented to the Emergency Department with diplopia, dysphagia, and progressive weakness 10 days after sustaining a gunshot wound to his right lower leg. He had been evaluated for the same complaints at a different facility the day prior and was discharged. His wound appeared well-healing, but a high suspicion for wound botulism led to rapid consultation with the state Poison Control Center and the Centers for Disease Control and Prevention. The patient developed worsening respiratory insufficiency and required mechanical ventilation. Expeditious treatment with equine heptavalent botulinum antitoxin resulted in significant recovery of strength in 4 days. Serum toxin bioassay tested positive for botulinum neurotoxin type A. WHY SHOULD AN EMERGENCY PHYSICIAN BE AWARE OF THIS?: Wound botulism now accounts for the majority of adult botulism in the United States. It should be considered in any patient with signs of neuromuscular disease and a recent injury, even if the wound appears uninfected. Published by Elsevier Inc.

Phenotype-loci associations in networks of patients with rare disorders: application to assist in the diagnosis of novel clinical cases.

PubMed

Bueno, Anibal; Rodríguez-López, Rocío; Reyes-Palomares, Armando; Rojano, Elena; Corpas, Manuel; Nevado, Julián; Lapunzina, Pablo; Sánchez-Jiménez, Francisca; Ranea, Juan A G

2018-06-26

Copy number variations (CNVs) are genomic structural variations (deletions, duplications, or translocations) that represent the 4.8-9.5% of human genome variation in healthy individuals. In some cases, CNVs can also lead to disease, being the etiology of many known rare genetic/genomic disorders. Despite the last advances in genomic sequencing and diagnosis, the pathological effects of many rare genetic variations remain unresolved, largely due to the low number of patients available for these cases, making it difficult to identify consistent patterns of genotype-phenotype relationships. We aimed to improve the identification of statistically consistent genotype-phenotype relationships by integrating all the genetic and clinical data of thousands of patients with rare genomic disorders (obtained from the DECIPHER database) into a phenotype-patient-genotype tripartite network. Then we assessed how our network approach could help in the characterization and diagnosis of novel cases in clinical genetics. The systematic approach implemented in this work is able to better define the relationships between phenotypes and specific loci, by exploiting large-scale association networks of phenotypes and genotypes in thousands of rare disease patients. The application of the described methodology facilitated the diagnosis of novel clinical cases, ranking phenotypes by locus specificity and reporting putative new clinical features that may suggest additional clinical follow-ups. In this work, the proof of concept developed over a set of novel clinical cases demonstrates that this network-based methodology might help improve the precision of patient clinical records and the characterization of rare syndromes.

Congenital left paraduodenal hernia causing chronic abdominal pain and abdominal catastrophe.

PubMed

Shi, Yan; Felsted, Amy E; Masand, Prakash M; Mothner, Brent A; Nuchtern, Jed G; Rodriguez, J Ruben; Vasudevan, Sanjeev A

2015-04-01

Paraduodenal hernias are the most common type of congenital internal hernia. Because of its overall rare incidence, this entity is often overlooked during initial assessment of the patient. Lack of specific diagnostic criteria also makes diagnosis exceedingly difficult, and the resulting diagnostic delays can lead to tragic outcomes for patients. Despite these perceived barriers to timely diagnosis, there may be specific radiographic findings that, when combined with the appropriate constellation of clinical symptoms, would aid in diagnosis. This patient first presented at 8 years of age with vague symptoms of postprandial emesis, chronic abdominal pain, nausea, and syncope. Over the span of 6 years he was evaluated 2 to 3 times a year with similar complaints, all of which quickly resolved spontaneously. He underwent multiple laboratory, imaging, and endoscopic studies, which were nondiagnostic. It was not until he developed signs of a high-grade obstruction and extremis that he was found to have a large left paraduodenal hernia that had volvulized around the superior mesenteric axis. This resulted in the loss of the entire superior mesenteric axis distribution of the small and large intestine and necrosis of the duodenum. In cases of chronic intermittent obstruction without clear etiology, careful attention and consideration should be given to the constellation of symptoms, imaging studies, and potential use of diagnostic laparoscopy. Increased vigilance by primary care and consulting physicians is necessary to detect this rare but readily correctable condition. Copyright © 2015 by the American Academy of Pediatrics.

A rare case of complete second arch branchial fistula in a 7-year-old child

PubMed Central

Shankar, Venkateswara Gomathi; Babu, Thirunavukkarasu Arun; Swami, Hartimath Basavanand

2012-01-01

Branchial fistulae are formed due to the abnormal persistence of the embryonic branchial clefts. Complete branchial fistula with internal and external opening is extremely rare. We report a rare case of complete second arch branchial fistulae in a 7-year-old boy, which was confirmed by a fistulogram. The tract was completely excised and the patient was successfully treated. PMID:23833506

Intramedullary capillary hemangioma of the thoracic spine: case report and review of the literature

PubMed Central

Kasukurthi, Rahul; Ray, Wilson Z; Blackburn, Spiros L; Lusis, Eriks A; Santiago, Paul

2009-01-01

Capillary hemangiomas are benign vascular neoplasms. When associated with the spine, these growths frequently involve the vertebral body, but rarely have they been reported to occur as intradural lesions, while even more rarely occurring in a true intramedullary location. We report a rare case of an intramedullary capillary hemangioma of the thoracic spinal cord and a review of the literature. PMID:21139881

Schwanomma From Cervical Sympathetic Chain Ganglion - A Rare Presentation.

PubMed

Asma, A Affee; Kannah, E

2015-10-01

Schwanommas arising from cervical sympathetic chain are tumours that are rare in occurrence. These lesions are usually difficult to differentiate from a vagal schwanomma and a carotid body tumour during the initial workup. In this report, a rarely seen huge cervical sympathetic chain schwanomma case with partial Horner's syndrome is being presented in detail, which to our known knowledge, is one of the few cases reported in literature.

A Rare Case of Port-a-Cath Migration into the Mediastinum

PubMed Central

Shah, BK; Tandukar, S Srijan; Shrestha, S; Sanchirico, P

2014-01-01

ABSTRACT Port-a-cath is commonly used in patients who require frequent administration of intravenous medications. We describe a rare case of port-a-cath migration into the mediastinum 16 months after its insertion. PMID:25803390

Native Valve Endocarditis due to Ralstonia pickettii: A Case Report and Literature Review

PubMed Central

Orme, Joseph; Rivera-Bonilla, Tomas; Loli, Akil; Blattman, Negin N.

2015-01-01

Ralstonia pickettii is a rare pathogen and even more rare in healthy individuals. Here we report a case of R. pickettii bacteremia leading to aortic valve abscess and complete heart block. To our knowledge this is the first case report of Ralstonia species causing infective endocarditis with perivalvular abscess. PMID:25648998

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.

Cutaneous metastasis revealing a relapse of gastric linitis: Another case

PubMed Central

Kairouani, Mouna; Perrin, Julie; Dietemann-Barabinot, Anne; Diab, Rafiq; Ruck, Stephane

2012-01-01

INTRODUCTION Cutaneous metastasis from gastric cancer is a rare occurrence. The linitis gastric carcinoma accounts only 8.7% of all gastric cancers. PRESENTATION OF CASE We report a case of female patient who was followed for linits cancer with peritoneal metastasis treated by six cycles of chemotherapy. After seventeen months of control, the relapse of the disease revealed by occurrence of cutaneous metastatsis. DISCUSSION Cutaneous metastasis from linit gastric is rare and the prognostic remains poor. The treatment is palliative. CONCLUSION This rare presentation should encourage the practitioners to biopsy any suspicion skin lesion. PMID:23276763

Synchronous occurrence of advanced adenocarcinoma with a stromal tumor in the stomach: a case report.

PubMed

Salemis, Nikolaos S; Gourgiotis, Stavros; Tsiambas, Evangelos; Karameris, Andreas; Tsohataridis, Efstathios

2008-06-01

Gastrointestinal stromal tumors (GISTs) are rare mesenchymal neoplasms of the digestive tract. Synchronous occurrence of a gastrointestinal stromal tumor with a tumor of different histogenesis is very rare and has been documented in the literature mainly in case reports. We present the case of a 78-year old female patient who underwent surgery for an advanced gastric carcinoma during which a gastric stromal tumor was incidentally discovered. A review of the literature is also conducted on the extremely rare synchronous occurrence of malignant tumors of different histogenesis in the stomach.

A rare case of spontaneous Aspergillus spondylodiscitis with epidural abscess in a 45-year-old immunocompetent female

PubMed Central

Raj, K. Ambedkar; Srinivasamurthy, Banushree C.; Nagarajan, Krishnan; Sinduja, M. G. Ilavarasi

2013-01-01

Vertebral osteomyelitis and discitis are mainly due to bacterial infections though fungal infections are one of the important causes of morbidity and mortality in immunocompromised patients. Aspergillus involving intervertebral disc space is extremely rare. We report a case of aspergillosis of intervertebral L5-S1 disc space with spinal epidural abscess in an immunocompetent 45-year-old female which can add on to a few case reports described in literature as well as an insight for clinicians regarding this rare spontaneous infection in an immunocompetent patient. PMID:24744568

A rare case of spontaneous Aspergillus spondylodiscitis with epidural abscess in a 45-year-old immunocompetent female.

PubMed

Raj, K Ambedkar; Srinivasamurthy, Banushree C; Nagarajan, Krishnan; Sinduja, M G Ilavarasi

2013-07-01

Vertebral osteomyelitis and discitis are mainly due to bacterial infections though fungal infections are one of the important causes of morbidity and mortality in immunocompromised patients. Aspergillus involving intervertebral disc space is extremely rare. We report a case of aspergillosis of intervertebral L5-S1 disc space with spinal epidural abscess in an immunocompetent 45-year-old female which can add on to a few case reports described in literature as well as an insight for clinicians regarding this rare spontaneous infection in an immunocompetent patient.

Adenoid cystic carcinoma of child: a rare case.

PubMed

Mathai, Meera; Sherubin, J Eugenia; Agnihotri, Pg; Sangeetha, Gs

2014-01-01

Adenoid cystic carcinoma (ACC) is the second most common malignant tumor affecting both major and minor salivary glands. Clinically, it is a slowly growing tumor with high propensity for local invasion, recurrence and distant metastasis. It is predominantly seen in the ffith and sixth decades of life. Here, we report a rare case of ACC affecting the right maxilla of a 12-year-old girl. How to cite this article: Mathai M, Sherubin JE, Agnihotri PG, Sangeetha GS. Adenoid Cystic Carcinoma of Child: A Rare Case. Int J Clin Pediatr Dent 2014;7(3):206-208.

An Unusual Gross Appearance of Vulval Tuberculosis Masquerading as Tumor

PubMed Central

Arakeri, Surekha U.

2014-01-01

Tuberculosis of the vulva is very rare. It is found in about 0.2% of the cases of genital tract tuberculosis. It usually presents as small shallow ulcers and multiple sinus tracts or rarely as elephantiasis of vulva. Except for very rare cases of primary tuberculosis in the vulva, it is usually associated with tuberculosis elsewhere in the body leading to secondary tuberculosis. Here, we report a case of secondary vulval tuberculosis which presented as a vulval mass in a 40-year-old female patient. The rarity of this presentation in the female genital tract is emphasized. PMID:25298898

Dipylidium caninum infection in a child: a rare case report.

PubMed

Narasimham, M V; Panda, P; Mohanty, I; Sahu, S; Padhi, S; Dash, M

2013-01-01

Dipylidiasis is a zoonotic parasitic infestation caused by the dog tapeworm Dipylidium caninum. Human dipylidiasis has been rarely reported in English literature. Young children are mostly at risk of acquiring the infection due to their close association with dogs and cats. We report a rare case of Dipylidium caninum infection in a 4 year old male child. The diagnosis was based on microscopic examination of stool. Confirmation of the proglottid segments was done by histopathological examination. To the best of our knowledge this is the first human case of Dipylidium caninum reported from this part of the country.

An unusual gross appearance of vulval tuberculosis masquerading as tumor.

PubMed

Arakeri, Surekha U; Sinkar, Prachi

2014-01-01

Tuberculosis of the vulva is very rare. It is found in about 0.2% of the cases of genital tract tuberculosis. It usually presents as small shallow ulcers and multiple sinus tracts or rarely as elephantiasis of vulva. Except for very rare cases of primary tuberculosis in the vulva, it is usually associated with tuberculosis elsewhere in the body leading to secondary tuberculosis. Here, we report a case of secondary vulval tuberculosis which presented as a vulval mass in a 40-year-old female patient. The rarity of this presentation in the female genital tract is emphasized.

Juvenile nasopharyngeal angiofibroma--a rare case of primary orbital development.

PubMed

Moschos, M; Demetra, A; Kontogeorgos, G

1998-08-01

To present a rare case of juvenile nasopharyngeal angiofibroma invading the ophthalmic orbit. The CT scan examination and the ultrasound tomography revealed the existence of a homogeneous solid mass causing distention and erosion of the nasal wall as well as dislocation of the ocular bulbus. The patient was operated, the mass was carefully liberated from its synechiae and it was totally excised with its capsule. A rare case of juvenile nasopharyngeal angiofibroma invading the orbit is presented. The tumor was totally excized and the patient is five years after the operation in good general health without recurrence of the tumor.

Accidental acute alcohol intoxication in infants: review and case report.

PubMed

Minera, Gabriella; Robinson, Evan

2014-11-01

Acute alcohol intoxication in children younger than 18 months old is both rarely documented and rarely fatal. Previous case reports suggest hypoglycemia and faster than normal rates of alcohol elimination found in children with acute alcohol intoxication compared with adults, but data are lacking. A 2-month-old infant presented with a decreased mental status after accidental ingestion of alcohol. He was diagnosed with acute alcohol intoxication, with a blood alcohol level of 330 mg/dL and was hyperglycemic (167 mg/dL). Alcohol elimination rate was calculated to be 21.6 mg/dL/h, similar to that in adults. To our knowledge, this case is the second youngest documented patient with accidental alcohol intoxication via ingestion in the United States. We present a rare case report of acute alcohol intoxication in an infant and a review of the literature. WHY SHOULD AN EMERGENCY PHYSICIAN BE AWARE OF THIS?: Although rare in the literature, poison control data suggests that alcohol poisoning in very young children is not rare. Emergency physicians should be prepared for the management of infants with alcohol poisoning. This case report and review brings attention to this subject and briefly discusses ethanol metabolism in infants. Copyright © 2014 Elsevier Inc. All rights reserved.

Influence of urban runoff, inappropriate waste disposal practices and World War II on the heavy metal status of sediments in the southern half of Saipan Lagoon, Saipan, CNMI.

PubMed

Denton, Gary R W; Emborski, Carmen A; Habana, Nathan C; Starmer, John A

2014-04-15

Heavy metals were examined in sediments from the southern half of Saipan Lagoon. These waters provided tactical access for US troops during WWII and were heavily shelled at the time. Mercury profiles in sediments were, to some extent, reflective of this event. Samples from the southern end of the lagoon, where an old post-war dumpsite once existed, were found to be substantially enriched with Pb, Cu and Zn. Further north, the lagoon was primarily impacted by urban runoff. Metal enrichment in sediments from this region was generally highest at storm drain outlets and attenuated seawards. Moderate enrichment was rarely exceeded for any element other than Hg beyond the 50 m mark. Sediment quality guidelines used to flag potentially adverse ecological health effects revealed no PEL exceedances. TEL exceedances for Pb and Cu were identified in sediments near the former dumpsite. The public health implications of the data are briefly addressed. Copyright © 2014 Elsevier Ltd. All rights reserved.

Canine gastritis.

PubMed

Webb, Craig; Twedt, David C

2003-09-01

Gastritis--inflammation of the stomach--is a frequently cited differential yet rarely characterized diagnosis in cases of canine anorexia and vomiting. Although the list of rule-outs for acute or chronic gastritis is extensive, a review of the veterinary literature reveals fewer than 15 articles that have focused on clinical cases of canine gastritis over the last 25 years. The dog frequently appears in the human literature as an experimentally manipulated model for the study of endoscopic techniques or the effect of medications on gastric mucosa. In the veterinary patient, cases of acute gastritis are rarely pursued with the complete diagnostic armamentarium, and cases of chronic gastritis are rarely found to occur as an entity isolated from the rest of the gastrointestinal tract. This article focuses on those findings most clinically relevant to cases of canine gastritis in veterinary medicine.

Primary hepatic choriocarcinoma: a rare cause of spontaneous haemoperitoneum in an adult

PubMed Central

Bakhshi, Girish D.; Borisa, Ashok D.; Bhandarwar, Ajay H.; Tayade, Mukund B.; Yadav, Rajesh B.; Jadhav, Yogesh R.

2012-01-01

Choricarcinoma is a beta human chorionic gonadotrophin secreting neoplasm pertinent to uterus and pregnancy mostly. It occurs primarily in gonads but rarely in extragonadal sites. Primary hepatic choriocarcinoma is an extremely rare tumor. Most of the reported cases are seen in infants representing metastasis from an occult placental choriocarcinoma. Till date, only 7 cases of primary hepatic choriocarcinoma in adults have been reported in literature. We present a case of a 40-yearold male presenting as haemoperitoneum due to ruptured hepatic tumor. He underwent emergency left lateral segmentectomy. He died on 10th postoperative day. The surgical specimen and autopsy findings confirmed it to be primary hepatic choriocarcinoma. This is the first case report from Indian Subcontinent. A brief case report and review of literature is presented. PMID:24765472

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 active component of the ascertainment system was problematic. The passive component appears viable with minor modifications. Conclusions Despite evident barriers, the joint passive and active case ascertainment of rare disorders using modified existing surveillance systems and datasets seems feasible, especially for systems that rely on passive case ascertainment. PMID:27574026

Deep reaching fluid flow in the North East German Basin: origin and processes of groundwater salinisation

NASA Astrophysics Data System (ADS)

Tesmer, M.; Möller, P.; Wieland, S.; Jahnke, C.; Voigt, H.; Pekdeger, A.

2007-11-01

Major element chemistry, rare-earth element distribution, and H and O isotopes are conjointly used to study the sources of salinisation and interaquifer flow of saline groundwater in the North East German Basin. Chemical analyses from hydrocarbon exploration campaigns showed evidence of the existence of two different groups of brines: halite and halite Ca-Cl brines. Residual brines and leachates are identified by Br-/Cl- ratios. Most of the brines are dissolution brines of Permian evaporites. New analyses show that the pattern of rare-earth elements and yttrium (REY) are closely linked to H and O isotope distribution. Thermal brines from deep wells and artesian wells indicate isotopically evaporated brines, which chemically interacted with their aquifer environment. Isotopes and rare-earth element patterns prove that cross flow exists, especially in the post-Rupelian aquifer. However, even at depths exceeding 2,000 m, interaquifer flow takes place. The rare-earth element pattern and H and O isotopes identify locally ascending brines. A large-scale lateral groundwater flow has to be assumed because all pre-Rupelian aquifer systems to a depth of at least 500 m are isotopically characterised by Recent or Pleistocene recharge conditions.

A rare case of palatin tonsillar metastasis from small cell lung cancer.

PubMed

D'Antonio, Chiara; Lombardini, Alberto; Onesti, Concetta Elisa; Falcone, Rosa; Romiti, Adriana; Lombardi, Marianna; Lauro, Salvatore; Marchetti, Paolo

2016-12-01

Tonsillar metastases are absolutely rare. Small cell lung cancer (SCLC) is known to be the most frequent histological type of tonsillar metastases, however the way of tumor cells spreading to tonsil remains controversial. We described a case report of 76-year-old man with SCLC and tonsillar metastases, to highlight the importance of oral cavity evaluation as a part of a clinical exam and to show the rare tumor cells spreading.

Schwanomma From Cervical Sympathetic Chain Ganglion – A Rare Presentation

PubMed Central

Asma, A. Affee

2015-01-01

Schwanommas arising from cervical sympathetic chain are tumours that are rare in occurrence. These lesions are usually difficult to differentiate from a vagal schwanomma and a carotid body tumour during the initial workup. In this report, a rarely seen huge cervical sympathetic chain schwanomma case with partial Horner’s syndrome is being presented in detail, which to our known knowledge, is one of the few cases reported in literature. PMID:26557566

Structure and properties of steel case-hardened by non-vacuum electron-beam cladding of carbon fibers

NASA Astrophysics Data System (ADS)

Losinskaya, A. A.; Lozhkina, E. A.; Bardin, A. I.

2017-12-01

At the present time, the actual problem of materials science is the increase in the steels performance characteristics. In the paper some mechanical properties of the case-hardened materials received by non-vacuum electron-beam cladding of carbon fibers are determined. The depth of the hardened layers varies from 1.5 to 3 mm. The impact strength of the samples exceeds 50 J/cm2. The wear resistance of the coatings obtained exceeds the properties of steel 20 after cementation and quenching with low tempering. The results of a study of the microhardness of the resulting layers and the microstructure are also given. The hardness of the surface layers exceeds 5700 MPa.

A rare case of post-splenectomy gastric volvulus managed by laparoscopic anterior gastropexy

PubMed Central

Gupta, Rahul Amreesh; Das, Rinki; Verma, Ganga Ram

2017-01-01

We report an extremely rare case of recurrent gastric volvulus after open splenectomy for hereditary spherocytosis. The initial episode was managed by endoscopic derotation. Later, for recurrent symptoms, she was successfully managed by laparoscopic anterior gastropexy. PMID:28281486

Correlation of metastasis characteristics with prognosis in gastric mixed adenoneuroendocrine carcinoma

PubMed Central

Tang, Qiang; Zhou, Zili; Chen, Jinhuang; Di, Maojun; Ji, Jintong; Yuan, Wenzheng; Liu, Zhengyi; Wu, Liang; Zhang, Xudan; Li, Kang; Shu, Xiaogang

2017-01-01

Abstract Rationale: This article is aimed to retrospect the clinicopathological data of 2 cases of gastric MANENCs. MANEC is a rare biphasic tumor type that is coexistence of dual neuroendocrine and adenocarcinoma differentiation with each composing exceeding 30% volume. Gastric MANEC have just been reported anecdotally in the literature due to their rarity and heterogeneity. According to our study, these neoplasms have 3 different metastasis patterns: only adenocarcinomatous or neuroendocrine carcinoma and both of the 2 components. We first focus on the correlation of metastasis characteristics with prognosis in gastric MANEC, which may be potential implications for the choice of chemotherapy. Patient concerns: The 2 cases of patient shared several symptoms: epigastric discomfort, weight loss, hematemesis, or melena. Diagnosis: The 2 patients were diagnosis as MANEC based on the identification of histopathological analysis. In case 1, the poor differentiated adenocarcinoma accounted for 30%, the neuroendocrine part account for 70% and both of the 2 components metastasized to the lymph nodes, whereas in case 2, poorly differentiated adenocarcinoma accounted for 70%, the neuroendocrine part for 30% and only the glandular component invaded regional lymph nodes. Interventions: The first patient underwent laparoscopic radical gastrectomy and underwent adjuvant chemotherapy, combination of cisplatin, and etoposide successfully. The second patient received radical gastronomy, and did not receive any chemotherapy due to general weakness. Outcomes: The first patient is alive with no evidence of recurrence, and the second patient died 6 months after the operation. Lessons: The assessment of metastatic sites should be a routine pathological practice, which is crucial for clinical decision-making and the selection of management. PMID:29390331

Novel use of propranolol for management of pain in children with vertebral hemangioma: report of two cases.

PubMed

Uzunaslan, Didem; Saygin, Caner; Gungor, Semih; Hasiloglu, Zehra; Ozdemir, Nihal; Celkan, Tiraje

2013-05-01

Vertebral hemangioma (VH) is an exceedingly rare neoplasm in pediatric population with less than 10 cases reported in the literature. It is usually asymptomatic in adults and diagnosed incidentally at radiographic investigations of other medical conditions. In this report, we describe two children who presented to our institution with severe back pain and were diagnosed with VH. Case 1 was an 8-year-old male with a pain score of 10 out of 10 at presentation. Clinical investigations eliminated the possibility of a neoplasm or infectious process and MRI findings were highly suggestive of an aggressive vertebral hemangioma. Case 2 was a 17-year-old female who presented with back pain radiating to shoulders. Her pain score was 4 out of 10 and she was diagnosed with vertebral hemangioma due to the specific findings on MRI studies. Both patients received propranolol with a dose of 20 and 40 mg per day, respectively. They were free of pain at 2 months follow-up. There are different invasive treatment modalities for the management of VH, including vertebroplasty, kyphoplasty, radiotherapy, alcohol injection, embolization, and surgery. These methods have been used in adult patients for several years, but each of them has potential risks which make these options unsuitable for children. Propranolol is a beta blocker which is safely used in the management of infantile hemangiomas. This is the first report demonstrating its efficacy in symptomatic treatment of childhood VH. The lesions did not show any regression, but the pain relief obtained was very significant under propranolol therapy.

Invasion of cooperators in lattice populations: linear and non-linear public good games.

PubMed

Vásárhelyi, Zsóka; Scheuring, István

2013-08-01

A generalized version of the N-person volunteer's dilemma (NVD) Game has been suggested recently for illustrating the problem of N-person social dilemmas. Using standard replicator dynamics it can be shown that coexistence of cooperators and defectors is typical in this model. However, the question of how a rare mutant cooperator could invade a population of defectors is still open. Here we examined the dynamics of individual based stochastic models of the NVD. We analyze the dynamics in well-mixed and viscous populations. We show in both cases that coexistence between cooperators and defectors is possible; moreover, spatial aggregation of types in viscous populations can easily lead to pure cooperation. Furthermore we analyze the invasion of cooperators in populations consisting predominantly of defectors. In accordance with analytical results, in deterministic systems, we found the invasion of cooperators successful in the well-mixed case only if their initial concentration was higher than a critical threshold, defined by the replicator dynamics of the NVD. In the viscous case, however, not the initial concentration but the initial number determines the success of invasion. We show that even a single mutant cooperator can invade with a high probability, because the local density of aggregated cooperators exceeds the threshold defined by the game. Comparing the results to models using different benefit functions (linear or sigmoid), we show that the role of the benefit function is much more important in the well-mixed than in the viscous case. Copyright © 2013 Elsevier Ireland Ltd. All rights reserved.

Risk assessment of water quality in three North Carolina, USA, streams supporting federally endangered freshwater mussels (Unionidae)

USGS Publications Warehouse

Ward, S.; Augspurger, T.; Dwyer, F.J.; Kane, C.; Ingersoll, C.G.

2007-01-01

Water quality data were collected from three drainages supporting the endangered Carolina heelsplitter (Lasmigona decorata) and dwarf wedgemussel (Alasmidonta heterodon) to determine the potential for impaired water quality to limit the recovery of these freshwater mussels in North Carolina, USA. Total recoverable copper, total residual chlorine, and total ammonia nitrogen were measured every two months for approximately a year at sites bracketing wastewater sources and mussel habitat. These data and state monitoring datasets were compared with ecological screening values, including estimates of chemical concentrations likely to be protective of mussels, and federal ambient water quality criteria to assess site risks following a hazard quotient approach. In one drainage, the site-specific ammonia ecological screening value for acute exposures was exceeded in 6% of the samples, and 15% of samples exceeded the chronic ecological screening value; however, ammonia concentrations were generally below levels of concern in other drainages. In all drainages, copper concentrations were higher than ecological screening values most frequently (exceeding the ecological screening values for acute exposures in 65-94% of the samples). Chlorine concentrations exceeding the acute water quality criterion were observed in 14 and 35% of samples in two of three drainages. The ecological screening values were exceeded most frequently in Goose Creek and the Upper Tar River drainages; concentrations rarely exceeded ecological screening values in the Swift Creek drainage except for copper. The site-specific risk assessment approach provides valuable information (including site-specific risk estimates and ecological screening values for protection) that can be applied through regulatory and nonregulatory means to improve water quality for mussels where risks are indicated and pollutant threats persist. ?? 2007 SETAC.

A rare case of multiple schwannomas presenting with scrotal mass: a probable case of schwannomatosis.

PubMed

Ikari, Ryo; Okamoto, Keisei; Yoshida, Tetsuya; Johnin, Kazuyoshi; Okabe, Hidetoshi; Okada, Yusaku

2010-08-01

We report a rare case of multiple schwannomas presenting with scrotal mass. In the present case, a scrotal schwannoma developed in a 66-year-old man with a history of brain tumor surgery. Investigating the patient's past history lead to the diagnosis as probable schwannomatosis. Patients with schwannomatosis are at increased risk of developing multiple schwannomas and these patients need regular surveillance. In this regard, the present case highlights the importance of thorough history taking in patients with scrotal schwannoma.

A rare case of osteoblastoma associated to aneurysmal bone cyst of the spine. Case report.

PubMed

Pavanello, Marco; Melloni, Ilaria; Fiaschi, Pietro; Consales, Alessandro; Piatelli, Gianluca; Ravegnani, Marcello; Nozza, Paolo; Gandolfo, Carlo; Cama, Armando

2016-01-01

Osteoblastoma is a rare bone tumour. It is occasionally associated with an aneurysmal bone cyst (ABC). Several treatment strategies can be adopted. We report a challenging case of an osteoblastoma associated with ABC of the lumbar spine in a 2-year-old boy. The pathogenesis and the critical management of the disease are discussed.

"Give Me a Name for What's Wrong with Him": A Case Study of a Rare Chromosome Disorder

ERIC Educational Resources Information Center

Gilmore, Linda; Campbell, Marilyn

2006-01-01

The case is presented of a young boy with a rare chromosome disorder involving an interstitial deletion on chromosome 16 (16q11.2q13). Background information on chromosome disorders is presented along with a review of previous findings about the developmental consequences of chromosome 16q deletions. The case description illustrates the…

Inverted schneiderian papilloma of the supraglottis: Case report.

PubMed

Saddawi-Konefka, Robert; Hariri, Nosaibah; Shabaik, Ahmed; Weissbrod, Philip A

2017-12-01

Inverted schneiderian papillomas are rare benign tumors, most often arising from the sinonasal mucosa. We describe a case of a 59-year-old female with an inverted papilloma of the supraglottis. This is the first reported case of a supraglottic-presenting inverted papilloma. Although rare, this case demonstrates that these tumors should be considered during workup of supraglottic laryngeal masses. Laryngoscope, 127:2830-2832, 2017. © 2017 The American Laryngological, Rhinological and Otological Society, Inc.

A Rare Case of Michelin Tire Baby Syndrome in a Newborn.

PubMed

Ramphul, Kamleshun; Mejias, Stephanie G; Ramphul-Sicharam, Yogeshwaree

2018-02-24

Kunze-Riehm syndrome also known as Michelin tire baby syndrome (MTBS) is a rare genetic condition with a characteristic generalized folding of excess skin. The diagnosis is usually made based on clinical symptoms. There are approximately only 30 cases reported in the literature and some cases were associated with non-cutaneous anomalies as well. Herein, we report a case of MTBS in a five-day-old male of Iraqi origin.

Effects of fire on the state of several elements in some soils of Sardinia.

PubMed

Senette, C; Meloni, S; Alberti, G; Melis, P

2000-01-01

In order to individuate the modifications induced in the soil by fires relatively to the mobility of metals and rare earth three soils of Sardinia which differ in their mineralogical and physico-chemical characteristics were sampled. The analytical results obtained on the samples drawn at different depths (0-5 and 10-30 cm) three months after a fire and on the tests indicate that only the surface layer underwent significant modifications. The dynamics of metals and the distribution of the rare earths were found to depend, besides the amount and quality of the burned material, on the different behaviour of elements towards leaching. The diffractometric analysis showed that the soil surface layer of all the samples did not exceed 400 degrees C.

Comparisons of two moments‐based estimators that utilize historical and paleoflood data for the log Pearson type III distribution

USGS Publications Warehouse

England, John F.; Salas, José D.; Jarrett, Robert D.

2003-01-01

The expected moments algorithm (EMA) [Cohn et al., 1997] and the Bulletin 17B [Interagency Committee on Water Data, 1982] historical weighting procedure (B17H) for the log Pearson type III distribution are compared by Monte Carlo computer simulation for cases in which historical and/or paleoflood data are available. The relative performance of the estimators was explored for three cases: fixed‐threshold exceedances, a fixed number of large floods, and floods generated from a different parent distribution. EMA can effectively incorporate four types of historical and paleoflood data: floods where the discharge is explicitly known, unknown discharges below a single threshold, floods with unknown discharge that exceed some level, and floods with discharges described in a range. The B17H estimator can utilize only the first two types of historical information. Including historical/paleoflood data in the simulation experiments significantly improved the quantile estimates in terms of mean square error and bias relative to using gage data alone. EMA performed significantly better than B17H in nearly all cases considered. B17H performed as well as EMA for estimating X100 in some limited fixed‐threshold exceedance cases. EMA performed comparatively much better in other fixed‐threshold situations, for the single large flood case, and in cases when estimating extreme floods equal to or greater than X500. B17H did not fully utilize historical information when the historical period exceeded 200 years. Robustness studies using GEV‐simulated data confirmed that EMA performed better than B17H. Overall, EMA is preferred to B17H when historical and paleoflood data are available for flood frequency analysis.

Comparisons of two moments-based estimators that utilize historical and paleoflood data for the log Pearson type III distribution

NASA Astrophysics Data System (ADS)

England, John F.; Salas, José D.; Jarrett, Robert D.

2003-09-01

The expected moments algorithm (EMA) [, 1997] and the Bulletin 17B [, 1982] historical weighting procedure (B17H) for the log Pearson type III distribution are compared by Monte Carlo computer simulation for cases in which historical and/or paleoflood data are available. The relative performance of the estimators was explored for three cases: fixed-threshold exceedances, a fixed number of large floods, and floods generated from a different parent distribution. EMA can effectively incorporate four types of historical and paleoflood data: floods where the discharge is explicitly known, unknown discharges below a single threshold, floods with unknown discharge that exceed some level, and floods with discharges described in a range. The B17H estimator can utilize only the first two types of historical information. Including historical/paleoflood data in the simulation experiments significantly improved the quantile estimates in terms of mean square error and bias relative to using gage data alone. EMA performed significantly better than B17H in nearly all cases considered. B17H performed as well as EMA for estimating X100 in some limited fixed-threshold exceedance cases. EMA performed comparatively much better in other fixed-threshold situations, for the single large flood case, and in cases when estimating extreme floods equal to or greater than X500. B17H did not fully utilize historical information when the historical period exceeded 200 years. Robustness studies using GEV-simulated data confirmed that EMA performed better than B17H. Overall, EMA is preferred to B17H when historical and paleoflood data are available for flood frequency analysis.

Water quality of streams in the Red River of the North Basin, Minnesota, North Dakota, and South Dakota, 1970-2001

USGS Publications Warehouse

Tornes, Lan H.

2005-01-01

Data for the Red River of the North (Red River) Basin in Minnesota, North Dakota, and South Dakota were analyzed to determine whether the water quality of streams in the basin is adequate to meet future needs. For the Red River at Emerson, Manitoba, site, pH values, water temperatures, and dissolved-oxygen concentrations generally were within the criteria established for the protection of aquatic life. Dissolved-solids concentrations ranged from 245 to 1,100 milligrams per liter. Maximum sulfate and chloride concentrations were near, but did not exceed, the established secondary maximum contaminant level. The trace elements considered potentially harmful generally were at concentrations that were less than the established guidelines, standards, and criteria. The concentrations of lead that were detected may have occurred as a result of sample contamination.  For the Red River upstream from Emerson, Manitoba, sites, pH and other field values rarely exceeded the criteria established for the protection of aquatic life. Many constituent concentrations for the Red River below Fargo, N. site exceeded water-quality guidelines, standards, and criteria. However, the trace-element exceedances could be natural or could be related to pollution or sample contamination. Many of the tributaries in the western part of the Red River Basin had median specific-conductance values that were greater than 1,000 microsiemens per centimeter. Sulfate concentrations occasionally exceeded the established drinking-water standard. Median arsenic concentrations were 6 micrograms per liter or less, and maximum concentrations rarely exceeded the 10-microgram-per-liter drinking-water standard that is scheduled to take effect in 2006. The small concentrations of lead, mercury, and selenium that occasionally were detected may have been a result of sample contamination or other factors. The tributaries in the eastern part of the Red River Basin had median specific-conductance values that were less than 1,000 microsiemens per centimeter.  Concentrations of pesticides that were detected and that had regulatory limits were less than the cited water-quality guidelines, standards, and criteria. Concentrations of compounds that were detected generally were less than the sediment- quality standards and criteria. The data considered in this report generally provide a good baseline from which to evaluate changes in water-quality conditions. However, because many of the trace elements detected, including lead and mercury, may have been the result of sample contamination, additional data are needed to confirm that trace-element concentrations generally are low. Concentrations of major ions, including sulfate, and specific conductance may continue to approach drinking-water standards during periods of low flow because the streams, particularly those in the western part of the basin, are sustained mostly by ground-water discharge that generally has large dissolved-solids concentrations.

Correlation of metastasis characteristics with prognosis in gastric mixed adenoneuroendocrine carcinoma: Two case reports.

PubMed

Tang, Qiang; Zhou, Zili; Chen, Jinhuang; Di, Maojun; Ji, Jintong; Yuan, Wenzheng; Liu, Zhengyi; Wu, Liang; Zhang, Xudan; Li, Kang; Shu, Xiaogang

2017-12-01

This article is aimed to retrospect the clinicopathological data of 2 cases of gastric MANENCs. MANEC is a rare biphasic tumor type that is coexistence of dual neuroendocrine and adenocarcinoma differentiation with each composing exceeding 30% volume. Gastric MANEC have just been reported anecdotally in the literature due to their rarity and heterogeneity. According to our study, these neoplasms have 3 different metastasis patterns: only adenocarcinomatous or neuroendocrine carcinoma and both of the 2 components. We first focus on the correlation of metastasis characteristics with prognosis in gastric MANEC, which may be potential implications for the choice of chemotherapy. The 2 cases of patient shared several symptoms: epigastric discomfort, weight loss, hematemesis, or melena. The 2 patients were diagnosis as MANEC based on the identification of histopathological analysis. In case 1, the poor differentiated adenocarcinoma accounted for 30%, the neuroendocrine part account for 70% and both of the 2 components metastasized to the lymph nodes, whereas in case 2, poorly differentiated adenocarcinoma accounted for 70%, the neuroendocrine part for 30% and only the glandular component invaded regional lymph nodes. The first patient underwent laparoscopic radical gastrectomy and underwent adjuvant chemotherapy, combination of cisplatin, and etoposide successfully. The second patient received radical gastronomy, and did not receive any chemotherapy due to general weakness. The first patient is alive with no evidence of recurrence, and the second patient died 6 months after the operation. The assessment of metastatic sites should be a routine pathological practice, which is crucial for clinical decision-making and the selection of management. Copyright © 2017 The Authors. Published by Wolters Kluwer Health, Inc. All rights reserved.

Headache in a nonclinical population in Dar es Salaam, Tanzania. A community-based study.

PubMed

Matuja, W B; Mteza, I B; Rwiza, H T

1995-05-01

Headache is a common symptom that constitutes a major health problem to all countries in the world with a variable prevalence from about 20.2% in the African population to about 80% in populations of the civilized world. Community-based studies in African populations are still scanty, and the impact on health facility utilization and sickness absence from work is unknown. After a simple random selection, 1540 urban workers and students of higher education completed a standardized self-administered questionnaire on headache. A total of 815 (52%), (620 (51%) men, 195 (60%) women) admitted to having suffered a headache requiring medication or medical consultation in the last year. Of these, 366 (23.7%) had recurrent headache not attributable to systemic disease. Of the total with recurrent headache, there was a significant preponderance of women over men with sex prevalence of 28.9% and 22.4%, respectively (X2 P = 0.0001). Combined vascular-muscular-type of headache exceeded all types of headache, accounting for 35.8% of cases, followed by migraine accounting for 30.8% of cases. Organic disease was rare, accounting for 8.5% of cases, and psychogenic causes of headache were even rarer at less than 1.2% of cases. Within 2 months of onset of recurrent headaches, over 32% of sufferers had utilized the health facility at their place of work or study. A significant number of cases (175) had an average of 11.3 lost work days per year in comparison to a control group of 154 persons with an average of 5.7 lost work days per year for reasons other than headache (X2 P = 0.0005).(ABSTRACT TRUNCATED AT 250 WORDS)

Testicular calculus: A rare case.

PubMed

Sen, Volkan; Bozkurt, Ozan; Demır, Omer; Tuna, Burcin; Yorukoglu, Kutsal; Esen, Adil

2015-01-01

Testicular calculus is an extremely rare case with unknown etiology and pathogenesis. To our knowledge, here we report the third case of testicular calculus. A 31-year-old man was admitted to our clinic with painful solid mass in left testis. After diagnostic work-up for a possible testicular tumour, he underwent inguinal orchiectomy and histopathologic examination showed a testicular calculus. Case hypothesis: Solid testicular lesions in young adults generally correspond to testicular cancer. Differential diagnosis should be done carefully. Future implications: In young adults with painful and solid testicular mass with hyperechogenic appearance on scrotal ultrasonography, testicular calculus must be kept in mind in differential diagnosis. Further reports on this topic may let us do more clear recommendations about the etiology and treatment of this rare disease.

A rare coexistence of aspergillosis with actinomycosis.

PubMed

Vinay, B Hari; Mohan, Aditya; Haritha, P; Lakshmi, K Roja

2017-01-01

Aspergillosis is a common systemic mycosis which affects immunocompromised and immunocompetent hosts. Aspergillus spp. is wide spread in the environment in most countries, which renders an invasive form of disease. The presence conidial heads are pathognomic to aspergillosis in diagnosis. Actinomycosis is a subacute-to-chronic infection that causes sinus fistula, tract or abscess due to the invasion surrounding the soft tissue. Cervicofacial infection accounts for 50%-60% of all actinomycosis cases. The mandible and nasopharynx are the sites of predilection, but maxillary infection is rare. Aspergillosis and Actinomycosis each of them was reported in case, but mixed infection of both organisms is rare, only one case has been reported. This paper discussed about a case report of coexistence of aspergillosis with actinomycosis in 38-year-old male.

Case report of an unusual combination of purulent pericarditis and false aneurysm of the ascending aorta.

PubMed

Meier, David; Kirsch, Matthias; Qanadli, Salah Dine; Muller, Olivier; Fishman, Daniel; Trana, Catalina

2018-01-29

Purulent pericarditis is an uncommon entity, which is, in very rare cases, associated to infection of the aorta. We present the case of a 42-year-old male patient, who was admitted to hospital complaining of tiredness, diarrhea and leg edema. Clinical examination revealed a hypotensive and obviously shocked patient. He was ultimately diagnosed with a rare combination of purulent pericarditis followed by false aneurysm of the ascending aorta. He was successfully treated by surgical pericardial drainage, replacement of the ascending aorta and antibiotics. Mycotic aneurysms can rarely be associated with purulent pericarditis. Our literature review shows that there are two mechanisms explaining this association and that in most of the published cases infective endocarditis could not be demonstrated.

Rare Coexistance of Ileal Diverticulosis, Crohn’s Disease and Small Bowel Adenocarcinoma: Report of a Case

PubMed Central

SPARTALIS, ELEFTHERIOS; GARMPIS, NIKOLAOS; SPARTALIS, MICHAEL; DAMASKOS, CHRISTOS; MORIS, DEMETRIOS; ATHANASIOU, ANTONIOS; GKOLFAKIS, PARASKEVAS; KORKOLOPOULOU, PENELOPE; DIMITROULIS, DIMITRIOS; MANTAS, DIMITRIOS

2018-01-01

Background/Aim: Adenocarcinoma is one of the most common malignant tumors of the small intestine complicating Crohn’s disease. However, the coexistence of both conditions with diverticulosis of small bowel in young age makes this coincidence rare and clinical diagnosis very difficult. Case Report: We report a case of a woman admitted to our Department with acute abdominal pain and fever. The surgical and histological investigation, revealed a rare coexistence that has never been mentioned in the published medical literature. Conclusion: Ileal diverticulosis is not frequent and often asymptomatic as well as adenocarcinoma of the small bowel. In this case, those diseases along with Crohn’s disease led the patient to acute symptoms. PMID:29275319

Ethical and medical management of a pregnant woman with brain stem death resulting in delivery of a healthy child and organ donation.

PubMed

Gopčević, A; Rode, B; Vučić, M; Horvat, A; Širanović, M; Gavranović, Ž; Košec, V; Košec, A

2017-11-01

Maternal brain death during pregnancy remains an exceedingly complex situation that requires not only a well-considered medical management plan, but also careful decision-making in a legally and ethically delicate situation. Management of brain dead pregnant patients needs to adhere to special strategies that support the mother in a way that she can deliver a viable and healthy child. Brain death in pregnant women is very rare, with only a few published cases. We present a case of a pregnant woman with previously diagnosed multiple brain cavernomas that led to intracranial hemorrhage and brain stem death during the 21st week of pregnancy. The condition that can be proven unequivocally, using tests that do not endanger viability of the fetus, is brain stem death, diagnosed through absence of cranial reflexes. The patient was successfully treated until delivery of a healthy female child at 29weeks of gestation. The patient received continuous hormone substitution therapy, fetal monitoring and extrinsic regulation of maternal homeostasis over 64days. After delivery, the final diagnosis of brain death was established through multi-slice computerized tomography pan-angiography. This challenging case discusses ethical and medical circumstances arising from a diagnosis of maternal brain death, while showing that prolongation of somatic life support in a multidisciplinary setting can result in a successful pregnancy outcome. Copyright © 2017 Elsevier Ltd. All rights reserved.

A rare case of palatin tonsillar metastasis from small cell lung cancer

PubMed Central

D’Antonio, Chiara; Lombardini, Alberto; Falcone, Rosa; Romiti, Adriana; Lombardi, Marianna; Lauro, Salvatore; Marchetti, Paolo

2016-01-01

Tonsillar metastases are absolutely rare. Small cell lung cancer (SCLC) is known to be the most frequent histological type of tonsillar metastases, however the way of tumor cells spreading to tonsil remains controversial. We described a case report of 76-year-old man with SCLC and tonsillar metastases, to highlight the importance of oral cavity evaluation as a part of a clinical exam and to show the rare tumor cells spreading. PMID:28149765

A Rare Case: Struma Ovarii in a 14-Year-Old Girl.

PubMed

Iltar, Elif; Ureyen, Isin; Toptas, Tayfun; Savas, Melike; Çekiç, Sema; Uysal, Aysel

2018-02-01

Ovarian tumors presented with ovarian mass in childhood and adolescence are uncommon but an important part of gynecological cases. Struma ovarii is one of the rare cystic benign ovarian tumors that is observed predominantly in women who are between the ages of 40 and 60 years old. It is extremely rare in adolescents. Herein, we present a 14-year-old adolescent girl with struma ovarii who presented to the emergency room with abdominal pain.

Typhoid ulcer causing life-threatening bleeding from Dieulafoy's lesion of the ileum in a seven-year-old child: a case report.

PubMed

Ezzat, Rajan Fuad; Hussein, Hiwa A; Baban, Trifa Shawkat; Rashid, Abbas Tahir; Abdullah, Khaled Musttafa

2010-06-03

We describe a case of rare complication of typhoid fever in a seven-year-old child and review the literature with regard to other rare causes of bleeding per rectum. Dieulafoy's lesion is an uncommon but important cause of recurrent gastrointestinal bleeding. Dieulafoy's lesion located extragastrically is rare. We report a case of typhoid ulcer with Dieulafoy's lesion of the ileum causing severe life-threatening bleeding and discuss the management of this extremely uncommon entity. As a complication of typhoid fever, a seven-year-old Kurdish girl from Northern Iraq developed massive fresh bleeding per rectum. During colonoscopy and laparotomy, she was discovered to have multiple bleeding ulcers within the Dieulafoy's lesion in the terminal ileum and ileocecal region. Although there is no practical way of predicting the occurrence of such rare complications, we emphasize in this case report the wide array of pathologies that can result from typhoid fever.

Mixed tumour of ala-nasi: a rare case report and review.

PubMed

Kallam, Anji Reddy; Krishna, R; Thumma, Rayapa Reddy; Setty, Vidya Kedar

2013-09-01

A chondroid syringoma or a mixed tumour of skin, is a rare, benign skin adnexal tumour of sweat gland origin, which is most commonly seen in the head and neck region of patients who are in the sixth and seventh decades. These tumours usually present as asymptomatic, slowly growing masses. We are reporting a rare case of a chondroid syringoma of Rt. ala nasi in a 50 years old female. The swelling had started 4 years back as a small nodule and it had gradually increased in size to 2x2 cms. It was located subcutaneously and it was projecting into the anterior nares. A clinical diagnosis of a benign adnexal tumour (adenoma) or a solitary neurofibroma was made and an excision was planned. Histopathology revealed features of a chondroid adenoma. We are reporting this case because of its rare and unusual site of occurrence and so far, in the available literature, no such case has been reported on tumours of alanasi.

A rare case report of grade III gingival enlargement associated with chronic periodontitis: Comparison of two treatment techniques.

PubMed

Pant, Vandana A; Pandey, Suraj

2015-01-01

Idiopathic gingival enlargement (GE) is a rare entity characterized by massive enlargement of the gingiva. It may be associated with other diseases/conditions characterizing a syndrome, but rarely documented in literature occurring along with chronic periodontitis. This case report describes a rare case of long standing massive GE in a systemically healthy, nonsyndromic young female involving both the arches, thereby posing a diagnostic dilemma. Furthermore, in this case, we compared two surgical approaches, that is, scalpel and electrosurgery for the convenience as well as the postoperative comfort of the patient. Quadrants 1 and 3 were treated by ledge and wedge technique using scalpel and blade while quadrants 2 and 4 were treated by electrosurgery. The patient was followed postoperatively up to 1-year. The massive GE subsided without recurrence and patient was completely satisfied with the treatment, though better compliance was observed at the site treated by conventional scalpel and blade technique.

A rare case report of grade III gingival enlargement associated with chronic periodontitis: Comparison of two treatment techniques

PubMed Central

Pant, Vandana A.; Pandey, Suraj

2015-01-01

Idiopathic gingival enlargement (GE) is a rare entity characterized by massive enlargement of the gingiva. It may be associated with other diseases/conditions characterizing a syndrome, but rarely documented in literature occurring along with chronic periodontitis. This case report describes a rare case of long standing massive GE in a systemically healthy, nonsyndromic young female involving both the arches, thereby posing a diagnostic dilemma. Furthermore, in this case, we compared two surgical approaches, that is, scalpel and electrosurgery for the convenience as well as the postoperative comfort of the patient. Quadrants 1 and 3 were treated by ledge and wedge technique using scalpel and blade while quadrants 2 and 4 were treated by electrosurgery. The patient was followed postoperatively up to 1-year. The massive GE subsided without recurrence and patient was completely satisfied with the treatment, though better compliance was observed at the site treated by conventional scalpel and blade technique. PMID:26668468

Adult medulloblastoma: A rare case report and literature review

PubMed Central

Faried, Ahmad; Pribadi, Muhammad A.; Sumargo, Sheila; Arifin, Muhammad Z.; Hernowo, Bethy S.

2016-01-01

Background: Medulloblastoma is a highly malignant embryonal tumor which commonly arises in the cerebellum. It is relatively rare and accounts for less than 2% of all primary brain tumors. The tumor primarily occurs in childhood; however, rarely, it may be found in adult population. In addition, medulloblastoma in adult population shows features which are quite distinct from the pediatric group. Case Description: We report the case of a 33-year-old man who presented to our institution with a history of blurred vision of both eyes for 5 months preceded by intermittent headache since the previous year. Preoperative investigation suggested a posterior fossa mass and we suspected an ependymoma. The patient underwent ventriculoperitoneal shunt and craniotomy tumor removal, followed by radiotherapy. Histopathological and immunohistochemical examination were performed, and the results showed a diagnosis of medulloblastoma. Conclusion: This case is exceptional because adult medulloblastoma occurrence in our center is extremely rare, and the diagnosis can only be established through histopathological and immunohistochemical studies. PMID:27512610

A rare case of recurrent ovarian cancer presenting as a round ligament metastasis.

PubMed

Togami, Shinichi; Kato, Tomoyasu; Oi, Takateru; Ishikawa, Mitsuya; Onda, Takashi; Ikeda, Shun-ichi; Kasamatsu, Takahiro

2011-11-07

We report a rare case of recurrent ovarian cancer presenting as a round ligament metastasis. A 44-year-old woman presented with a lower abdominal mass. Computed tomography showed a pelvic mass. Primary surgery was performed. A histopathological examination showed an ovarian serous adenocarcinoma of Stage IIIb. The patient received 6 cycles of paclitaxel and carboplatin. Almost 2 years after the initial operation, the patient noticed a left inguinal mass. Computed tomography showed a left inguinal mass, 18 mm in size. An excisional biopsy was performed and the tumor was found to originate in the left round ligament. A histopathological examination showed serous adenocarcinoma and there was no evidence of lymph node tissue. Recurrence of ovarian cancer in the round ligament is extremely rare. This unique case suggests, however, that the round ligament in rare cases may be a recurrence site for ovarian cancer, and that accurate differentiation including confirmation by diagnostic imaging and excisional biopsy, is necessary for a definitive pathological diagnosis.

Incidental Intraosseous Pneumatocyst with gas-density-fluid level in an adolescent: a case report and review of the literature

PubMed Central

Al-Tarawneh, Emad; AL-Qudah, Mohammad; Hadidi, Fadi; Jubouri, Shams; Hadidy, Azmy

2014-01-01

Intraosseous pneumatocyst is a gas containing lesion located within a bone. It is a relatively rare condition of unclear etiology and with an undetermined natural course. Gas-density-fluid level pneumatocyst is even rarer. Pneumatocyst is frequently seen in adults but rarely reported in pediatrics. The lesion is usually small and is seen in the vertebral bodies as well as around the sacroiliac joints. Rarely does it occur in other parts of the skeleton. We are reporting a case of large blood signal intensity containing intraosseous pneumatocyst in a 14 year old boy and reviewing other pediatric cases of pneumatocysts as well as those with gas-density-fluid level. The recognition of this incidental rare benign lesion is essential to avoid over investigation and an inappropriate aggressive intervention. PMID:24967024

Incidental De Garengeot's hernia: A case report of dual pathology to remember.

PubMed

Whitehead-Clarke, Thomas; Parampalli, Umesh; Bhardwaj, Rakesh

2015-01-01

A De Garengeot's hernia is the very rare dual pathology of a vermiform appendix within a femoral hernia. We discuss the rare case of a 62 year old female who presented as an emergency with a strangulated femoral hernia. Within the hernia sac a partly necrotic vermiform appendix was discovered. The patient successfully underwent an appendicectomy and repair of her femoral hernia. The post-operative period was uneventful, with no further issues at follow-up. Our case report displays the successful treatment of a De Garengeot's hernia as an emergency admission, with a shorter than average admission time, and no post-operative complications. This is a rare case of dual pathology, of which we believe there are few published cases. Copyright © 2015 The Authors. Published by Elsevier Ltd.. All rights reserved.

Integrated rare variant-based risk gene prioritization in disease case-control sequencing studies.

PubMed

Lin, Jhih-Rong; Zhang, Quanwei; Cai, Ying; Morrow, Bernice E; Zhang, Zhengdong D

2017-12-01

Rare variants of major effect play an important role in human complex diseases and can be discovered by sequencing-based genome-wide association studies. Here, we introduce an integrated approach that combines the rare variant association test with gene network and phenotype information to identify risk genes implicated by rare variants for human complex diseases. Our data integration method follows a 'discovery-driven' strategy without relying on prior knowledge about the disease and thus maintains the unbiased character of genome-wide association studies. Simulations reveal that our method can outperform a widely-used rare variant association test method by 2 to 3 times. In a case study of a small disease cohort, we uncovered putative risk genes and the corresponding rare variants that may act as genetic modifiers of congenital heart disease in 22q11.2 deletion syndrome patients. These variants were missed by a conventional approach that relied on the rare variant association test alone.

A case of primary diffuse large B-cell non-Hodgkin's lymphoma misdiagnosed as chronic periapical periodontitis.

PubMed

Jessri, M; AbdulMajeed, A A; Matias, M A; Farah, C S

2013-06-01

Lymphoma is a malignant neoplasm of component cells of the lymphoid system which is very rare in the jaws. Here we report a case of primary diffuse large B-cell lymphoma located in the periapical region of a mandibular molar which was misdiagnosed as chronic periapical periodontitis. The present case was diagnosed at an early stage and effectively managed by chemotherapy. Although lymphoma of the mandible is rare, it must be considered in the differential diagnosis of radiolucent lesions in this region. Lack of knowledge of this rare presentation may lead to delays in diagnosis and poor prognosis. © 2013 Australian Dental Association.

Solitary pancreatic head metastasis from tibial adamantinoma: a rare indication to pancreaticoduodenectomy

PubMed Central

Silvestri, S; Sandrucci, S; Comandone, A; Molinaro, L; Chiusa, L; Fronda, G R; Franchello, A

2018-01-01

Abstract Pancreatic metastases are rare, <2% of all pancreatic neoplasia. This is the first case of pancreatic metastasis from adamantinoma, a rare, low grade and slow growing tumor which is frequently localized in long bones. We describe a case of a 45-year-old woman presenting with increased bilirubin level. Computed tomography and ecoendoscopic ultra sonography revealed a pancreatic head mass. Fine-needle aspiration biopsy was consistent with metastatic adamantinoma. The patient was submitted to a standard pancreaticoduodenectomy. As in the case presented, standard pancreatic resections are safe and feasible options to treat non-pancreatic primary tumor improving patient’s survival and quality of life. PMID:29479415

Reducing selection bias in case-control studies from rare disease registries.

PubMed

Cole, J Alexander; Taylor, John S; Hangartner, Thomas N; Weinreb, Neal J; Mistry, Pramod K; Khan, Aneal

2011-09-12

In clinical research of rare diseases, where small patient numbers and disease heterogeneity limit study design options, registries are a valuable resource for demographic and outcome information. However, in contrast to prospective, randomized clinical trials, the observational design of registries is prone to introduce selection bias and negatively impact the validity of data analyses. The objective of the study was to demonstrate the utility of case-control matching and the risk-set method in order to control bias in data from a rare disease registry. Data from the International Collaborative Gaucher Group (ICGG) Gaucher Registry were used as an example. A case-control matching analysis using the risk-set method was conducted to identify two groups of patients with type 1 Gaucher disease in the ICGG Gaucher Registry: patients with avascular osteonecrosis (AVN) and those without AVN. The frequency distributions of gender, decade of birth, treatment status, and splenectomy status were presented for cases and controls before and after matching. Odds ratios (and 95% confidence intervals) were calculated for each variable before and after matching. The application of case-control matching methodology results in cohorts of cases (i.e., patients with AVN) and controls (i.e., patients without AVN) who have comparable distributions for four common parameters used in subject selection: gender, year of birth (age), treatment status, and splenectomy status. Matching resulted in odds ratios of approximately 1.00, indicating no bias. We demonstrated bias in case-control selection in subjects from a prototype rare disease registry and used case-control matching to minimize this bias. Therefore, this approach appears useful to study cohorts of heterogeneous patients in rare disease registries.

Rare events modeling with support vector machine: Application to forecasting large-amplitude geomagnetic substorms and extreme events in financial markets.

NASA Astrophysics Data System (ADS)

Gavrishchaka, V. V.; Ganguli, S. B.

2001-12-01

Reliable forecasting of rare events in a complex dynamical system is a challenging problem that is important for many practical applications. Due to the nature of rare events, data set available for construction of the statistical and/or machine learning model is often very limited and incomplete. Therefore many widely used approaches including such robust algorithms as neural networks can easily become inadequate for rare events prediction. Moreover in many practical cases models with high-dimensional inputs are required. This limits applications of the existing rare event modeling techniques (e.g., extreme value theory) that focus on univariate cases. These approaches are not easily extended to multivariate cases. Support vector machine (SVM) is a machine learning system that can provide an optimal generalization using very limited and incomplete training data sets and can efficiently handle high-dimensional data. These features may allow to use SVM to model rare events in some applications. We have applied SVM-based system to the problem of large-amplitude substorm prediction and extreme event forecasting in stock and currency exchange markets. Encouraging preliminary results will be presented and other possible applications of the system will be discussed.

Long-Range Memory in Literary Texts: On the Universal Clustering of the Rare Words

PubMed Central

2016-01-01

A fundamental problem in linguistics is how literary texts can be quantified mathematically. It is well known that the frequency of a (rare) word in a text is roughly inverse proportional to its rank (Zipf’s law). Here we address the complementary question, if also the rhythm of the text, characterized by the arrangement of the rare words in the text, can be quantified mathematically in a similar basic way. To this end, we consider representative classic single-authored texts from England/Ireland, France, Germany, China, and Japan. In each text, we classify each word by its rank. We focus on the rare words with ranks above some threshold Q and study the lengths of the (return) intervals between them. We find that for all texts considered, the probability SQ(r) that the length of an interval exceeds r, follows a perfect Weibull-function, SQ(r) = exp(−b(β)rβ), with β around 0.7. The return intervals themselves are arranged in a long-range correlated self-similar fashion, where the autocorrelation function CQ(s) of the intervals follows a power law, CQ(s) ∼ s−γ, with an exponent γ between 0.14 and 0.48. We show that these features lead to a pronounced clustering of the rare words in the text. PMID:27893737

NSCL and FRIB at Michigan State University: Nuclear science at the limits of stability

NASA Astrophysics Data System (ADS)

Gade, A.; Sherrill, B. M.

2016-05-01

The National Superconducting Cyclotron Laboratory (NSCL) at Michigan State University (MSU) is a scientific user facility that offers beams of rare isotopes at a wide range of energies. This article describes the facility, its capabilities, and some of the experimental devices used to conduct research with rare isotopes. The versatile nuclear science program carried out by researchers at NSCL continues to address the broad challenges of the field, employing sensitive experimental techniques that have been developed and optimized for measurements with rare isotopes produced by in-flight separation. Selected examples showcase the broad program, capabilities, and the relevance for forefront science questions in nuclear physics, addressing, for example, the limits of nuclear existence; the nature of the nuclear force; the origin of the elements in the cosmos; the processes that fuel explosive scenarios in the Universe; and tests for physics beyond the standard model of particle physics. NSCL will cease operations in approximately 2021. The future program will be carried out at the Facility for Rare Isotope Beams, FRIB, presently under construction on the MSU campus adjacent to NSCL. FRIB will provide fast, stopped, and reaccelerated beams of rare isotopes at intensities exceeding NSCL’s capabilities by three orders of magnitude. An outlook will be provided on the enormous opportunities that will arise upon completion of FRIB in the early 2020s.

Conjunctival tumor caused by Epstein-Barr virus-related infectious mononucleosis: Case report and review of literature.

PubMed

Vaivanijkul, Juntarut; Boonsiri, Kreopun

2017-04-01

The conjunctival tumor associated with Epstein-Barr virus related infectious mononucleosis is a rare ocular manifestation. Only a few cases have been reported in the literature. We reported this rare condition that presented in a 5-year-old boy.

Selected Case From the Arkadi M. Rywlin International Pathology Slide Seminar: Benign Warthin Tumor of the Thyroid.

PubMed

Peckova, Kvetoslava; Daum, Ondrej; Michal, Michael; Curcikova, Radmila; Michal, Michal

2016-09-01

We report on an exceedingly rare lesion of the thyroid probably of a branchial cleft origin, which was not published in the world literature before. A 58-year-old woman underwent a total thyroidectomy for bilateral goiter. Grossly, there was one yellowish nodule sized 15 mm in the largest dimension found in the right lobe. Microscopically, the thyroid parenchyma showed signs of Hashimoto thyroiditis. The nodule in the right lobe was composed of a part of solid cell nests appearance, another part resembling a branchial cleft cyst, and a part resembling Warthin tumor. This lesion may belong to the histogenetically similar group of entities in the head and neck region which are derived from branchial cleft derivatives and which, under the inflammatory influence, have the ability to a cystic dilatation and proliferation of the epithelial component. The epithelium can afterwards become papillary and may undergo oncocytic transformation, thus gaining features that impart the resemblance of a Warthin tumor. Club members generally agreed with a submitted diagnosis of benign Warthin tumor of the thyroid.

Early diagnosis of an isolated primary peripheral T-cell lymphoma masquerading as massive gingival enlargement in a pediatric patient

PubMed Central

Ghattamaneni, Sravani; Guttikonda, Venkateswara Rao; Yeluri, Sivaranjani; Kolipara, Rajani

2017-01-01

Lymphomas are malignant neoplasm of the lymphocyte cell lines, classified as either Hodgkin's or non-Hodgkin's lymphoma (NHL). NHL comprises a heterogeneous group of lymphoid neoplasm arising from B-cell, T-cell or natural killer cell with a spectrum of behavior ranging from relatively indolent to highly aggressive and potentially fatal. Peripheral T-cell lymphoma, a variant of NHL, is a disease characterized by the presence of diffuse lymphadenopathy, extranodal involvement, classical B symptoms such as fever (>100.4°F) for 3 consecutive days, weight loss exceeding 10% of body weight in 6 months and drenching night sweats with a tendency for recurrence. Among NHLs, extranodal presentations are relatively common. Extranodal presentation particularly in the oral cavity is very rare and may misinterpret the diagnosis. Lesions of this type should be cautiously dealt especially in pediatric patients and young adolescents. The present case report is about an atypical presentation of disease process in a 15-year-old male patient, which was diagnosed early with the help of a combination of histopathology and immunohistochemistry techniques. PMID:29391718

Credible occurrence probabilities for extreme geophysical events: earthquakes, volcanic eruptions, magnetic storms

USGS Publications Warehouse

Love, Jeffrey J.

2012-01-01

Statistical analysis is made of rare, extreme geophysical events recorded in historical data -- counting the number of events $k$ with sizes that exceed chosen thresholds during specific durations of time $\\tau$. Under transformations that stabilize data and model-parameter variances, the most likely Poisson-event occurrence rate, $k/\\tau$, applies for frequentist inference and, also, for Bayesian inference with a Jeffreys prior that ensures posterior invariance under changes of variables. Frequentist confidence intervals and Bayesian (Jeffreys) credibility intervals are approximately the same and easy to calculate: $(1/\\tau)[(\\sqrt{k} - z/2)^{2},(\\sqrt{k} + z/2)^{2}]$, where $z$ is a parameter that specifies the width, $z=1$ ($z=2$) corresponding to $1\\sigma$, $68.3\\%$ ($2\\sigma$, $95.4\\%$). If only a few events have been observed, as is usually the case for extreme events, then these "error-bar" intervals might be considered to be relatively wide. From historical records, we estimate most likely long-term occurrence rates, 10-yr occurrence probabilities, and intervals of frequentist confidence and Bayesian credibility for large earthquakes, explosive volcanic eruptions, and magnetic storms.

MicroRNA in Glioblastoma: An Overview

PubMed Central

Banelli, Barbara; Forlani, Alessandra; Allemanni, Giorgio; Morabito, Anna; Pistillo, Maria Pia

2017-01-01

Glioblastoma is the most aggressive brain tumor and, even with the current multimodal therapy, is an invariably lethal cancer with a life expectancy that depends on the tumor subtype but, even in the most favorable cases, rarely exceeds 2 years. Epigenetic factors play an important role in gliomagenesis, are strong predictors of outcome, and are important determinants for the resistance to radio- and chemotherapy. The latest addition to the epigenetic machinery is the noncoding RNA (ncRNA), that is, RNA molecules that are not translated into a protein and that exert their function by base pairing with other nucleic acids in a reversible and nonmutational mode. MicroRNAs (miRNA) are a class of ncRNA of about 22 bp that regulate gene expression by binding to complementary sequences in the mRNA and silence its translation into proteins. MicroRNAs reversibly regulate transcription through nonmutational mechanisms; accordingly, they can be considered as epigenetic effectors. In this review, we will discuss the role of miRNA in glioma focusing on their role in drug resistance and on their potential applications in the therapy of this tumor. PMID:29234674

High Energy Interactions in Massive Binaries: An Application to a Most Mysterious Binary

NASA Technical Reports Server (NTRS)

Corcoran, Michael

2013-01-01

Extremely massive stars (50M and above) are exceedingly rare in the local Universe but are believed to have composed the entire first generation of stars, which lived fast, died young and left behind the first generation of black holes and set the stage for the formation of lower mass stars suitable to support life. There are significant uncertainties about how this happened (and how it still happens), mostly due to our poor knowledge of how stars change mass as they evolve. Extremely massive stars give mass back to the ISM via strong radiatively-driven winds and sometimes through sporadic eruptions of the most massive and brightest stars. Such mass loss plays an important role in the chemical and dynamical evolution of the local interstellar medium prior to the supernova explosion. Below we discuss how high energy thermal (and, in some cases, non-thermal) emission, along with modern simulations in 2 and 3 dimensions, can be used to help determine a physically realistic picture of mass loss in a well-studied, mysterious system.

Multiple Myeloma Presenting as Massive Amyloid Deposition in a Parathyroid Gland Associated with Amyloid Goiter: A Medullary Thyroid Carcinoma Mimic on Intra-operative Frozen Section.

PubMed

Hill, Kirk; Diaz, Jason; Hagemann, Ian S; Chernock, Rebecca D

2018-06-01

Clinical examples of amyloid deposition in parathyroid glands are exceedingly rare and usually present as an incidental finding in a patient with amyloid goiter. Here, we present the first histologically documented case of parathyroid amyloid deposition that presented as a mass. The patient did not have hyperparathyroidism. The parathyroid gland was submitted for intra-operative frozen section and concern for medullary thyroid carcinoma was raised. An important histologic clue arguing against medullary thyroid carcinoma was the evenly dispersed nature of the amyloid. Histologic perinuclear clearing and parathyroid hormone immunohistochemistry confirmed parathyroid origin on permanent sections. The patient was also found to have associated amyloid goiter. Mass spectrometry of the amyloid showed it to be composed of kappa light chains. On further work-up, the patient was diagnosed with multiple myeloma. Awareness of parathyroid amyloid deposition is important as it is a histologic mimic of medullary thyroid carcinoma, especially on frozen section. Amyloid typing with evaluation for multiple myeloma in any patient with kappa or lambda light chain restriction is also important.

Galactic civilizations - Population dynamics and interstellar diffusion

NASA Technical Reports Server (NTRS)

Newman, W. I.; Sagan, C.

1981-01-01

A model is developed of the interstellar diffusion of galactic civilizations which takes into account the population dynamics of such civilizations. The problem is formulated in terms of potential theory, with a family of nonlinear partial differential and difference equations specifying population growth and diffusion for an organism with advantageous genes that undergoes random dispersal while increasing in population locally, and a population at zero population growth. In the case of nonlinear diffusion with growth and saturation, it is found that the colonization wavefront from the nearest independently arisen galactic civilization can have reached the earth only if its lifetime exceeds 2.6 million years, or 20 million years if discretization can be neglected. For zero population growth, the corresponding lifetime is 13 billion years. It is concluded that the earth is uncolonized not because interstellar spacefaring civilizations are rare, but because there are too many worlds to be colonized in the plausible colonization lifetime of nearby civilizations, and that there exist no very old galactic civilizations with a consistent policy of the conquest of inhabited worlds.

Spleen rupture in infectious mononucleosis: report of one case.

PubMed

Chen, C C; Hsiao, C C; Huang, C B

1998-01-01

Spleen rupture has been a rare but feared complication in patients with infectious mononucleosis. There have been many cases reported during the last decade. However, it has rarely been mentioned among the young infant group. Here, we present a case of an infant, two months of age, who suffered from spleen rupture due to infectious mononucleosis, and was latter cured by himself under conservative treatment.

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.

Aortic Endograft Infection by Pasteurella multocida: A Rare Case.

PubMed

Jayakrishnan, Thejus T; Keyashian, Brian; Amene, Juliet; Malinowski, Michael

2016-08-01

Infection of an aortic endograft is a rare complication following endovascular aneurysm repair. These patients have been treated with explantation of the graft to obtain source control followed by an extra-anatomic bypass to restore circulation. The present case study describes an interesting case of Pasteurella infection involving an aortic endograft managed nonoperatively by percutaneous drainage and graft preservation. © The Author(s) 2016.

Uncommon presentation of a rare tumour - incidental finding in an asymptomatic patient: case report and comprehensive review of the literature on intrapericardial solitary fibrous tumours.

PubMed

Czimbalmos, Csilla; Csecs, Ibolya; Polos, Miklos; Bartha, Elektra; Szucs, Nikolette; Toth, Attila; Maurovich-Horvat, Pal; Becker, David; Sapi, Zoltan; Szabolcs, Zoltan; Merkely, Bela; Vago, Hajnalka

2017-09-02

A solitary fibrous tumour is a rare, mainly benign spindle cell mesenchymal tumour most commonly originating from the pleura. An intrapericardial location of a solitary fibrous tumour is extremely unusual. We present a case of an asymptomatic patient with a slow-growing massive benign cardiac solitary fibrous tumour. A 37-year-old asymptomatic female patient was referred to our hospital with an enlarged cardiac silhouette found on her screening chest X-ray. The echocardiographic examination revealed pericardial effusion and an inhomogeneous mobile mass located in the pericardial sac around the left ventricle. Cardiac magnetic resonance (MRI) examination showed an intrapericardial, semilunar-shaped mass attached to the pulmonary trunk with an intermediate signal intensity on proton density-weighted images and high signal intensity on T2-weighted spectral fat saturation inversion recovery images. First-pass perfusion and early and late gadolinium-enhanced images showed a vascularized mass with septated, patchy, inhomogeneous late enhancement. Coronary computed tomography angiography revealed no invasion of the coronaries. Based on the retrospectively analysed screening chest X-rays, the mass had started to form at least 7 years earlier. Complete resection of the tumour with partial resection of the pulmonary trunk was performed. Histological evaluation of the septated, cystic mass revealed tumour cells forming an irregular patternless pattern; immunohistochemically, the cells tested positive for vimentin, CD34, CD99 and STAT6 but negative for keratin (AE1-AE3), CD31 and S100. Thus, the diagnosis of an intrapericardial solitary fibrous tumour was established. There has been no recurrence for 3 years based on the regular MRI follow-up. Intrapericardial SFTs, showing slow growth dynamics, can present with massive extent even in completely asymptomatic patients. MRI is exceedingly useful for characterizing intrapericardial masses, allowing precise surgical planning, and is reliable for long-term follow up.

Solid Pseudopapillary Tumor of the Pancreas: A Single-center Experience and Review of the Literature

PubMed Central

ANTONIOU, A. EFSTATHIOS; DAMASKOS, CHRISTOS; GARMPIS, NIKOLAOS; SALAKOS, CHRISTOS; MARGONIS, GIORGOS-ANTONIOS; KONTZOGLOU, KONSTANTINOS; LAHANIS, STEFANOS; SPARTALIS, ELEFTHERIOS; PATSOURAS, DIMITRIOS; KYKALOS, STYLIANOS; GARMPI, ANNA; ANDREATOS, NIKOLAOS; PAWLIK, M. TIMOTHY; KOURAKLIS, GREGORY

2017-01-01

Background: Solid pseudopapillary tumors (SPTs) of the pancreas are a rare occurrence, not exceeding 1-2% of all exocrine pancreatic tumors. SPT was first described in 1959 as “papillary tumor of the pancreas, benign or malignant” and affects mainly young women, in their second or third decade of age. These tumors are of low malignant potential, unclear pathogenesis, grow gradually and become considerably large before causing symptoms. A typical clinical presentation is often described by affected patients and, in some cases, an SPT is an incidental finding during the time the patient undergoes medical imaging studies for other health issues. SPT is frequently located at the head or tail of the pancreas. Metastases are rare but, when present, affect predominantly the liver. Patients and Methods: We report a series of five SPT cases in female patients 13-47 years old, presenting with almost identical symptoms of upper abdominal discomfort and non-tender palpable mass. Two out of five patients also reported vomiting, nausea and poor appetite as co-existing non-diagnostic symptoms. Only one patient presented without any symptoms. Tumor location and dimensions varied. One patient underwent a pancreatoduodenectomy (Whipple’s procedure), while the remaining patients underwent distal pancreatectomy with concomitant splenectomy. Results: Perioperative morbidity and mortality was zero. All five patients are disease-free at a follow-up from 3 months to 13 years. Histopathology reports supported the diagnosis of SPT and no metastatic disease was present in any of the patients. Conclusion: The overall prognosis of SPT of the pancreas is excellent due to its favorable biological features, even in the presence of distal metastasis. Although surgical resection is often curative, a close follow-up is advised in order to diagnose a possible local recurrence or distal metastasis and choose the proper therapeutic option for the patients. PMID:28652415

Solid Pseudopapillary Tumor of the Pancreas: A Single-center Experience and Review of the Literature.

PubMed

Antoniou, Efstathios A; Damaskos, Christos; Garmpis, Nikolaos; Salakos, Christos; Margonis, Giorgos-Antonios; Kontzoglou, Konstantinos; Lahanis, Stefanos; Spartalis, Eleftherios; Patsouras, Dimitrios; Kykalos, Stylianos; Garmpi, Anna; Andreatos, Nikolaos; Pawlik, Timothy M; Kouraklis, Gregory

2017-01-01

Solid pseudopapillary tumors (SPTs) of the pancreas are a rare occurrence, not exceeding 1-2% of all exocrine pancreatic tumors. SPT was first described in 1959 as "papillary tumor of the pancreas, benign or malignant" and affects mainly young women, in their second or third decade of age. These tumors are of low malignant potential, unclear pathogenesis, grow gradually and become considerably large before causing symptoms. A typical clinical presentation is often described by affected patients and, in some cases, an SPT is an incidental finding during the time the patient undergoes medical imaging studies for other health issues. SPT is frequently located at the head or tail of the pancreas. Metastases are rare but, when present, affect predominantly the liver. We report a series of five SPT cases in female patients 13-47 years old, presenting with almost identical symptoms of upper abdominal discomfort and non-tender palpable mass. Two out of five patients also reported vomiting, nausea and poor appetite as co-existing non-diagnostic symptoms. Only one patient presented without any symptoms. Tumor location and dimensions varied. One patient underwent a pancreatoduodenectomy (Whipple's procedure), while the remaining patients underwent distal pancreatectomy with concomitant splenectomy. Perioperative morbidity and mortality was zero. All five patients are disease-free at a follow-up from 3 months to 13 years. Histopathology reports supported the diagnosis of SPT and no metastatic disease was present in any of the patients. The overall prognosis of SPT of the pancreas is excellent due to its favorable biological features, even in the presence of distal metastasis. Although surgical resection is often curative, a close follow-up is advised in order to diagnose a possible local recurrence or distal metastasis and choose the proper therapeutic option for the patients. Copyright© 2017, International Institute of Anticancer Research (Dr. George J. Delinasios), All rights reserved.

Black Ash (Fraxinus nigra Marsh.): Local ecological knowledge of site characteristics and morphology associated with basket-grade specimens in New England (USA)

Treesearch

Allaire K. Diamond; Marla R. Emery

2011-01-01

Fraxinus nigra Marsh. is a small, relatively uncommon tree with large social significance. Known as black ash or brown ash, it rarely exceeds 18 meters (60 feet) in height or 30-50 centimeters (12-20 inches) in diameter. In the U.S. states where the species occurs, its percentage of forest composition ranges from 0.01% in Kentucky to 6.00% in...

An unusual case of spontaneous esophagopleural fistula.

PubMed

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

2017-01-01

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

An unusual case of spontaneous esophagopleural fistula

PubMed Central

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

2017-01-01

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

A large and aggressive fibromatosis in the axilla: a rare case report and review of the literature.

PubMed

Duan, Mingyue; Xing, Hua; Wang, Keren; Niu, Chunbo; Jiang, Chengwei; Zhang, Lijuan; Ezzat, Shereen; Zhang, Le

2018-01-01

Aggressive fibromatosis (AF) is a rare benign tumor, which occurs in the deep part of bone and muscle fibrous tissue. Clinical and pathological features can be challenging for definitive diagnosis. Here, we report a rare case of a large AF in the axilla. Interestingly, 18 F-fluorodeoxyglucose-positron emission tomography/computed tomography showed significant increase in standard uptake value. Surgical resection yielded a spindle cell tumor likely of fibromatosis origin which was positive for β-catenin expression.

Osteolytic Bone Lesions - A Rare Presentation of AML M6.

PubMed

Geetha, N; Sreelesh, K P; Priya, M J; Lali, V S; Rekha, N

2015-01-01

Acute myeloid leukemia (AML) M6 is a rare form of AML accounting for < 5 % of all AML. Extramedullary involvement is very rarely seen in this entity. Skeletal lesion has not been described in AML M6 before. We discuss the case of a 17 year old boy with AML M6, who presented with osteolytic lesion of right humerus. He was treated with induction and consolidation chemotherapy. The present case is the first report in literature of AML M6 presenting with skeletal lesions.

Primary appendicular adenocarcinoma presenting as haematuria

PubMed Central

Amr, Bassem; Santana-Vaz, Natasha; Munir, Komal

2014-01-01

Adenocarcinoma of the vermiform appendix is a rare malignant neoplasm of the gastrointestinal tract encountered rarely within general surgical practice. We present the case of a 49-year-old man who, while undergoing investigations for haematuria, was diagnosed with an appendicular adenocarcinoma following bladder biopsy. Consequently he underwent right hemicolectomy and partial cystectomy followed by adjuvant chemotherapy. By discussing this case we hope to raise awareness within the medical profession of this rare presentation so that it may be considered within clinicians’ differential diagnoses. PMID:25358831

[Basan's syndrome: Congenital absence of dermatoglyphs and milia].

PubMed

Gagey-Caron, V; Stalder, J-F; Barbarot, S

2009-05-01

White micropapules are uncommon on the face newborns and are mainly due to sebaceous hyperplasia, or more rarely to milia. In some cases they may result from milia and profuse milia suggest rare diseases. We report the case of a newborn presenting with profuse congenital milia on the face that resolved spontaneously within a few months. This eruption revealed Basan's syndrome, a rare, autosomal dominant inherited dermatosis described as the association of profuse facial milia, acral bullae, absence of dermatoglyphs, and palmoplantar hypohydrosis.

Bilateral granulosa cell tumors: a novel malignant manifestation of multiple endocrine neoplasia 1 syndrome found in a patient with a rare menin in-frame deletion

PubMed Central

Hall, Michael J; Innocent, Julie; Rybak, Christina; Veloski, Colleen; Scott, Walter J; Wu, Hong; Ridge, John A; Hoffman, John P; Borghaei, Hossein; Turaka, Aruna; Daly, Mary B

2015-01-01

Introduction Multiple endocrine neoplasia 1 (MEN1) is a cancer syndrome resulting from mutations of the MEN1 gene. The syndrome is characterized by neoplasia of the parathyroid and pituitary glands, and malignant tumors of the endocrine pancreas. Other manifestations include benign lipomas, angiofibromas, and carcinoid tumors commonly originating in the colon, thymus, and lung. This is the first report of MEN1 syndrome manifesting as bilateral granulosa cell ovarian tumors, and which is associated with a rare intronic mutation of the MEN1 gene. Case report A 41-year-old woman presented with abdominal pain, increasing abdominal girth, and dysmenorrhea. Ultrasound demonstrated enlarged ovaries and uterine fibroids. After an exploratory laparotomy, she subsequently underwent bilateral salpingo–oophorectomy with hysterectomy where the pathology revealed bilateral cystic granulosa cell tumors of the ovaries. Additional workup including computed tomography imaging discovered a thymic mass, which the pathology showed was malignant, along with a pancreatic mass suspicious for a neuroendocrine tumor. Hyperparathyroidism was also discovered and was found to be secondary to a parathyroid adenoma. Genetic testing revealed an exceedingly rare mutation in the MEN1 gene (c.654 + 1 G>A). Discussion Mutations of the menin gene leading to MEN1 syndrome are classically nonsense or missense mutations producing a dysfunctional protein product. Recently, researchers described a novel mutation of MEN1 (c.654 + 1 G>A) in a male proband meeting the criteria for clinical MEN1 syndrome. Functional analysis performed on the stable mutant protein showed selective disruption of the transforming growth factor beta signaling pathway, yet it maintained its wild-type ability to inhibit nuclear factor kappa B and to suppress JunD transcriptional activity. Conclusion To our knowledge, this is the first report of MEN1 syndrome associated with bilateral granulosa cell malignancy. We postulate that this presentation may be due to the novel menin gene mutation recently described. PMID:25733923

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

Ground-Water Quality of the Northern High Plains Aquifer, 1997, 2002-04

USGS Publications Warehouse

Stanton, Jennifer S.; Qi, Sharon L.

2007-01-01

An assessment of ground-water quality in the northern High Plains aquifer was completed during 1997 and 2002-04. Ground-water samples were collected at 192 low-capacity, primarily domestic wells in four major hydrogeologic units of the northern High Plains aquifer-Ogallala Formation, Eastern Nebraska, Sand Hills, and Platte River Valley. Each well was sampled once, and water samples were analyzed for physical properties and concentrations of nitrogen and phosphorus compounds, pesticides and pesticide degradates, dissolved solids, major ions, trace elements, dissolved organic carbon (DOC), radon, and volatile organic compounds (VOCs). Tritium and microbiology were analyzed at selected sites. The results of this assessment were used to determine the current water-quality conditions in this subregion of the High Plains aquifer and to relate ground-water quality to natural and human factors affecting water quality. Water-quality analyses indicated that water samples rarely exceeded established U.S. Environmental Protection Agency public drinking-water standards for those constituents sampled; 13 of the constituents measured or analyzed exceeded their respective standards in at least one sample. The constituents that most often failed to meet drinking-water standards were dissolved solids (13 percent of samples exceeded the U.S. Environmental Protection Agency Secondary Drinking-Water Regulation) and arsenic (8 percent of samples exceeded the U.S. Environmental Protection Agency Maximum Contaminant Level). Nitrate, uranium, iron, and manganese concentrations were larger than drinking-water standards in 6 percent of the samples. Ground-water chemistry varied among hydrogeologic units. Wells sampled in the Platte River Valley and Eastern Nebraska units exceeded water-quality standards more often than the Ogallala Formation and Sand Hills units. Thirty-one percent of the samples collected in the Platte River Valley unit had nitrate concentrations greater than the standard, 22 percent exceeded the manganese standard, 19 percent exceeded the sulfate standard, 26 percent exceeded the uranium standard, and 38 percent exceeded the dissolved-solids standard. In addition, 78 percent of samples had at least one detectable pesticide and 22 percent of samples had at least one detectable VOC. In the Eastern Nebraska unit, 30 percent of the samples collected had dissolved-solids concentrations larger than the standard, 23 percent exceeded the iron standard, 13 percent exceeded the manganese standard, 10 percent exceeded the arsenic standard, 7 percent exceeded the sulfate standard, 7 percent exceeded the uranium standard, and 7 percent exceeded the selenium standard. No samples exceeded the nitrate standard. Thirty percent of samples had at least one detectable pesticide compound and 10 percent of samples had at least one detectable VOC. In contrast, the Sand Hills and Ogallala Formation units had fewer detections of anthropogenic compounds and drinking-water exceedances. In the Sand Hills unit, 15 percent of the samples exceeded the arsenic standard, 4 percent exceeded the nitrate standard, 4 percent exceeded the uranium standard, 4 percent exceeded the iron standard, and 4 percent exceeded the dissolved-solids standard. Fifteen percent of samples had at least one pesticide compound detected and 4 percent had at least one VOC detected. In the Ogallala Formation unit, 6 percent of water samples exceeded the arsenic standard, 4 percent exceeded the dissolved-solids standard, 3 percent exceeded the nitrate standard, 2 percent exceeded the manganese standard, 1 percent exceeded the iron standard, 1 percent exceeded the sulfate standard, and 1 percent exceeded the uranium standard. Eight percent of samples collected in the Ogallala Formation unit had at least one pesticide detected and 6 percent had at least one VOC detected. Differences in ground-water chemistry among the hydrogeologic units were attributed to variable depth to water, depth of the well screen below the water table, reduction-oxidation conditions, ground-water residence time, interactions with surface water, composition of aquifer sediments, extent of cropland, extent of irrigated land, and fertilizer application rates.

A rare and important case of Staphylococcus haemolyticus-associated ventricular atrial shunt nephritis.

PubMed

Suen, Kyle; Mashhadian, Ardavan; Figarsky, Ian; Payumo, Jeff; Liu, Antonio

2017-12-01

Shunt nephritis is a rare and relatively new diagnosis involving glomerular kidney damage following ventriculoperitoneal and ventriculoatrial shunt placement. Our case report summarizes the presentation, diagnostic workup, and management of a patient with shunt nephritis. We also review and discuss the current literature on the topic.

Methamphetamine colitis: a rare case of ischemic colitis in a young patient.

PubMed

Holubar, Stefan D; Hassinger, James P; Dozois, Eric J; Masuoka, Howard C

2009-08-01

Worldwide, methamphetamine (ie, "crystal meth") abuse is increasing, and is especially prevalent in rural America. However, ischemic colitis secondary to methamphetamine abuse has rarely been reported. We describe the case of a young man who presented with signs and symptoms suggestive of ischemic colitis.

Ketotic hyperglycemia with movement disorder

PubMed Central

Awasthi, Disha; Tiwari, Akhilesh Kumar; Upadhyaya, Abhinav; Singh, Balwinder; Tomar, Gaurav Singh

2012-01-01

Chorea, hemichorea-hemiballismus and severe partial seizures may be the presenting features of nonketotic hyperglycemia in older adults with type 2 diabetes, but cases in young adults with type 1 diabetes are rare. We hereby report a very rare case of diabetic ketosis with movement disorder in a young patient. PMID:22416165

Naegeli-Franceschetti-Jadassohn syndrome: A rare case.

PubMed

Shah, Bela J; Jagati, Ashish K; Gupta, Neha P; Dhamale, Suyog S

2015-01-01

Naegeli-Franceschetti-Jadassohn Syndrome (NFJS) is a rare, autosomal dominant inherited form of ectodermal dysplasia, caused by mutation in the KRT14 gene. We report here a case of NFJS in a 27-year-old male who presented with reticulate hyperpigmentation over skin, dental changes, absence of dermatoglyphics, hypohidrosis, and hair changes.

Recurrent acute pancreatitis secondary to a duodenal duplication cyst in an adult. A case report and literature review

PubMed Central

Salemis, Nikolaos S; Liatsos, Christos; Kolios, Michail; Gourgiotis, Stavros

2009-01-01

Duodenal duplication cysts are rare congenital abnormalities that are most commonly diagnosed in infancy and childhood. However, in rare cases, the lesion can remain asymptomatic until adulthood. An extremely rare case of a previously healthy adult patient with recurrent acute pancreatitis, who was diagnosed with a duodenal duplication cyst is presented. At laparotomy, a duplication cyst measuring 4.8 cm × 4 cm × 4 cm was found adjacent to the ampulla of Vater. A partial cyst excision and marsupialization into the duodenal lumen was performed. The patient is healthy and asymptomatic four years after surgery. The present case illustrates the necessity of considering a duodenal duplication cyst in the differential diagnosis of recurrent acute pancreatitis in previously healthy adults. PMID:19893770

Recurrent acute pancreatitis secondary to a duodenal duplication cyst in an adult. A case report and literature review.

PubMed

Salemis, Nikolaos S; Liatsos, Christos; Kolios, Michail; Gourgiotis, Stavros

2009-11-01

Duodenal duplication cysts are rare congenital abnormalities that are most commonly diagnosed in infancy and childhood. However, in rare cases, the lesion can remain asymptomatic until adulthood. An extremely rare case of a previously healthy adult patient with recurrent acute pancreatitis, who was diagnosed with a duodenal duplication cyst is presented. At laparotomy, a duplication cyst measuring 4.8 cm x 4 cm x 4 cm was found adjacent to the ampulla of Vater. A partial cyst excision and marsupialization into the duodenal lumen was performed. The patient is healthy and asymptomatic four years after surgery. The present case illustrates the necessity of considering a duodenal duplication cyst in the differential diagnosis of recurrent acute pancreatitis in previously healthy adults.

46 CFR 151.10-20 - Hull construction.

Code of Federal Regulations, 2011 CFR

2011-10-01

... rests upon a pinnacle at the water surface. The maximum hull and tank bending moment and tank saddle reactions (if applicable) shall be determined. The hull bending stress shall not exceed the applicable... hull. In such case, the hull stress shall not exceed either 50 percent of the minimum ultimate tensile...

Hemangiopericytoma of thoracic spine: a rare bony tumor.

PubMed

Kumar, Raj; Vaid, Vivek Kumar; Kumar, Vimal; Kalra, Samir Kumar

2007-10-01

We report the case of a 16-year-old girl who developed hemangiopericytoma of the thoracic spine; the main clinical symptoms were of spastic paraparesis with sensory involvement and uro-fecal incontinence. She was initially put on antitubercular treatment keeping in mind the endemicity of tuberculosis in the region. When she deteriorated on conservative management, she was operated upon, and the histopathological report was suggestive of hemangiopericytoma. Additional immunocytochemistry was performed in the paraffin-embedded tumor sections. An extremely rare case of primary epidural malignant hemangiopericytoma of the thoracic spinal column is described. It is a rare tumor, which is locally aggressive, and a potentially malignant tumor. The tumor is more commonly found in the cranium, and spinal involvement is rare, and only few case reports could be retrieved from the literature. We discuss the clinical profile, management, and outcome of spinal hemangiopericytomas along with pertinent review of the literature.

Report of a Case and Review of Literature of Internal Hernia through Peritoneal Defect in Pouch of Douglas: A Rare Occurrence.

PubMed

Muthukumar, Vamseedharan; Venugopal, Sarveswaran; Subramaniam, Surees Kumar

2017-01-01

Intestinal obstruction attributable to internal hernia as a cause is a rare phenomenon with a reported incidence of 0.6%-5.8%. Internal hernias ensuing as a result of defect in the pouch of Douglas is extremely rare with only six such cases reported so far in the literature. We present a case of 74-year-old posthysterectomy status female who presented with features of intestinal obstruction. Intraoperatively, the site of obstruction was found to be a rent in the peritoneum of the pouch of Douglas through which a loop of ileum was found herniating. The viability of the bowel was confirmed, and the defect was closed. The postoperative course was uneventful. This report presents an extremely rare type of internal hernia caused by defect in the pouch of Douglas and review of the literature so far available.

Case Report: Protothecal Tenosynovitis

PubMed Central

Lee, Jin Seo; Moon, Goo Hyun; Lee, Nam Yong

2008-01-01

Protothecosis is a rare infection caused by achlorophyllic algae called Prototheca. Approximately 117 cases have been described in the literature world wide, the majority caused by the species P. wickerhamii. Cutaneous infection is the most common and cases of tenosynovitis are very rare. A local or systemic immunosuppressive factor is seen in half of the cases of protothecosis. We report a case of protothecal tenosynovitis in a middle-aged, immunocompetent woman that developed after she received sclerosing therapy of varicose veins. Administration of itraconazole with surgical débridement produced a good response. We also review the published cases of protothecal tenosynovitis. PMID:18791778

Case report: protothecal tenosynovitis.

PubMed

Lee, Jin Seo; Moon, Goo Hyun; Lee, Nam Yong; Peck, Kyong Ran

2008-12-01

Protothecosis is a rare infection caused by achlorophyllic algae called Prototheca. Approximately 117 cases have been described in the literature world wide, the majority caused by the species P. wickerhamii. Cutaneous infection is the most common and cases of tenosynovitis are very rare. A local or systemic immunosuppressive factor is seen in half of the cases of protothecosis. We report a case of protothecal tenosynovitis in a middle-aged, immunocompetent woman that developed after she received sclerosing therapy of varicose veins. Administration of itraconazole with surgical débridement produced a good response. We also review the published cases of protothecal tenosynovitis.

30 CFR 250.524 - When am I required to take action from my casing diagnostic test?

Code of Federal Regulations, 2012 CFR

2012-07-01

... psig during a casing diagnostic test; (c) Any well that has demonstrated tubing/casing, tubing/riser, casing/casing, riser/casing, or riser/riser communication; (d) Any well that has sustained casing... operations described in § 250.521; (e) Any hybrid well with casing or riser pressure exceeding 100 psig; or...

30 CFR 250.525 - When am I required to take action from my casing diagnostic test?

Code of Federal Regulations, 2013 CFR

2013-07-01

... psig during a casing diagnostic test; (c) Any well that has demonstrated tubing/casing, tubing/riser, casing/casing, riser/casing, or riser/riser communication; (d) Any well that has sustained casing... operations described in § 250.521; (e) Any hybrid well with casing or riser pressure exceeding 100 psig; or...

30 CFR 250.525 - When am I required to take action from my casing diagnostic test?

Code of Federal Regulations, 2014 CFR

2014-07-01

... psig during a casing diagnostic test; (c) Any well that has demonstrated tubing/casing, tubing/riser, casing/casing, riser/casing, or riser/riser communication; (d) Any well that has sustained casing... operations described in § 250.521; (e) Any hybrid well with casing or riser pressure exceeding 100 psig; or...

Acute otitis media associated bilateral sudden hearing loss: case report and literature review.

PubMed

Smith, A; Gutteridge, I; Elliott, D; Cronin, M

2017-07-01

Sudden sensorineural hearing loss is a rare otological condition with potential for dire outcomes including permanent hearing loss. Although the majority of cases are deemed idiopathic, bilateral sudden sensorineural hearing loss represents a rare subset typically related to systemic conditions, with higher morbidity and mortality. A controversial association with acute otitis media has been reported, with few bilateral cases published in the literature. A very rare case of bilateral sudden sensorineural hearing loss associated with acute otitis media is described, with a review of the literature. The limited evidence available suggests that acute otitis media with tinnitus and/or bacterial pathology may have an increased risk of sudden sensorineural hearing loss, which is consistent with the case described. Although there is no sufficiently powered published evidence to provide definitive treatment guidelines, the literature reviewed suggests that early myringotomy and antibiotics may greatly improve treatment outcomes.

Pharyngoesophageal perforation 3 years after anterior cervical spine surgery: a rare case report and literature review.

PubMed

Yin, Dan-Hui; Yang, Xin-Ming; Huang, Qi; Yang, Mi; Tang, Qin-Lai; Wang, Shu-Hui; Wang, Shuang; Liu, Jia-Jia; Yang, Tao; Li, Shi-Sheng

2015-08-01

Pharyngoesophageal perforation after anterior cervical spine surgery is rare and the delayed cases were more rarely reported but potentially life-threatening. We report a case of pharyngoesophageal perforation 3 years after anterior cervical spine surgery. The patient presented with dysphagia, fever, left cervical mass and developing dyspnea 3 years after cervical spine surgery for trauma. After careful examinations, he underwent an emergency tracheostomy, neck exploration, hardware removal, abscess drainage and infected tissue debridement. 14 days after surgery, CT of the neck with oral contrast demonstrated no contrast extravasation from the esophagus. Upon review of literature, only 14 cases of pharyngoesophageal perforation more than 1 year after anterior cervical spine surgery were found. We discussed possible etiology, diagnosis and management and concluded that in cases of dysphagia, dyspnea, cervical pain, swelling and edema of the cervical area even long time after anterior cervical spine surgery, potential pharyngoesophageal damage should be considered.

A rare case of important and recurrent abnormal uterine bleeding in a post partum woman caused by cavernous hemangioma: a case report and review of literature.

PubMed

Aka, Kacou Edele; Apollinaire Horo, Gninlgninrin; Fomba, Minata; Kouyate, Salif; Koffi, Abdoul Koffi; Konan, Seni; Fanny, Mohamed; Effi, Benjamin; Kone, Mamourou

2017-01-01

The cavernous hemangioma is a rare benign vascular tumor. About 50 cases of this disease were found in the literature over the last century and only 9 cases of cavernous hemangioma on the pregnant uterus were published it comes into cavernous or capillary form. The symptomatology is not unequivocal and when it occurs during pregnancy or postpartum, it causes life-threatening cataclysmic hemorrhage. Antenatal diagnosis is difficult and requires a multidisciplinary approach with pathologists, radiologists and gynecologists to avoid these complications or unnecessary hysterectomies. The diagnosis is histological. Hysterectomy is possible after failure of conservative treatment means. We report a rare case, a novel mixed cavernous hemangioma of the body associated with a capillary hemangioma of the cervix in a patient of 28 years 5th visors with recurrent genital bleeding in the postpartum period leading to a hysterectomy.

Giant multilevel thoracic hemangioma with spinal cord compression in a patient with Klippel-Weber-Trenaunay syndrome: case report.

PubMed

Grau, Stefan J; Holtmannspoetter, Markus; Seelos, Klaus; Tonn, Joerg-Christian; Siefert, Axel

2009-06-15

Case report and clinical discussion. We intend to report a very rare case of a giant spinal hemangioma causing myelopathy. Multilevel symptomatic spinal hemangiomas causing acute neurologic symptoms are rare disorders. We found only sporadic reports in English literature. We describe a very rare case in which Klippel-Trenaunay-Weber syndrome is associated with a multisegmental vertebral hemangioma causing a rapidly progressing thoracic myelopathy. Because of the extension of the disease, surgical intervention was not feasible, the patient was treated by radiotherapy. The patient showed a complete regression of symptoms with stable condition after 3 months. In extensive spinal hemangiomas, radiotherapy may represent a safe treatment modality with rapid clinical improvement even in cases with spinal cord compression. This report contributes to a wide range of known vascular abnormalities in Klippel-Trenaunay-Weber syndrome and supports the need for a careful multisystemic evaluation of these patients.

Pleuroperitoneal Mesothelioma: A Rare Entity on 18F-FDG PET/CT

PubMed Central

Sahoo, Manas Kumar; Mukherjee, Anirban; Girish; Parida, Kumar; Agarwal, Krishan Kant; Bal, Chandrasekhar; Tripathi, Madhavi; Das, Chandan Jyoti; Shamim, Shamim Ahmed

2017-01-01

Pleuroperitoneal mesothelioma is an extremely rare entity. Only few cases are reported worldwide. We hereby represent a case of pleural mesothelioma referred for F-18-Fluorodeoxyglucose positron emission tomography/computed tomography for response evaluation. Diffuse F-18-Fluorodeoxyglucose avid peritoneal and omental thickening noted which subsequently turned out to be mesothelial involvement on peritoneal biopsy. This case demonstrates the role of F-18-Fluorodeoxyglucose positron emission tomography/computed tomography in detecting other sites of involvement in case of malignant mesothelioma. PMID:28242997

Left Sided Amyand's Hernia, A Rare Occurance: A Case Report.

PubMed

Ravishankaran, Praveen; Mohan, G; Srinivasan, A; Ravindran, G; Ramalingam, A

2013-06-01

This is a case report about a 35 year old man admitted with complains of obstructed left sided inguinal hernia. On exploration of the left inguinal canal to our surprise a normal appendix was found in addition to a gangrenous omentum. Resection of the gangrenous omentum was done. Appendectomy was done. This case is reported for its rare occurance as only three such cases of left sided amyand's hernia has been reported so far in literature[4-6].

Ranitidine-induced black tongue: A case report.

PubMed

Akcaboy, Meltem; Sahin, Sanliay; Zorlu, Pelin; Şenel, Saliha

2017-11-01

Black tongue is a rare, benign, self-limiting disorder caused by certain conditions and some medications. We report the first case of a child diagnosed with black tongue associated with ranitidine use. We report our case to emphasize the rare side effect of this frequently used drug. Health care professionals should be aware of the likelihood of ranitidine-induced black tongue in clinical practice. © 2017 Wiley Periodicals, Inc.

Waardenburg syndrome: A rare genetic disorder, a report of two cases.

PubMed

Kumar, Sudesh; Rao, Kiran

2012-05-01

Waardenburg syndrome (WS) is a rare genetic disorder. Patients have heterochromia or eyes with iris of different color, increased inter-canthal distance, distopia canthorum, pigmentation anomalies, and varying degree of deafness. It usually follows autosomal dominant pattern. In this report, two cases have been discussed but no familial history of WS has been found. Counseling of the patient is necessary and cases of irreversible deafness have been treated.

Melorheostosis of the Foot: A Case Report of A rare entity with a Review of Multimodality Imaging Emphasizing the Importance of Conventional Radiography in Diagnosis

PubMed Central

Ashish, Gulia; Shashikant, Juvekar; Ajay, Puri; Subhash, Desai

2016-01-01

Introduction: Melorheostosis is a benign bone dysplasia affecting predominantly the appendicular skeleton and adjoining soft tissues. The diagnosis can be established on plain radiographs alone and advanced imaging modalities can be avoided. We hereby report a rare case of melorheostosis affecting the foot with a review of the role of various imaging modalities in diagnosis of this rare bone dysplasia. Case Report: We present the case of a 29 years old man who was diagnosed with melorheostosis affecting his left foot. The patient presented to the outpatient department of our tertiary care referral hospital with complains of pain in the left ankle and foot with imaging and evaluation done at a primary center. The radiograph revealed an irregular, longitudinal extraosseous hyperostosis along the body of the calcaneum and the metacarpals which was consistent with the classical radiological description of melorheostosis. The CT, MRI and bone scan findings corroborated our primary diagnosis. Conclusion: The purpose of this case report is to review the features of this rare disorder affecting the foot, on multiple imaging modalities and emphasizing the role of conventional radiology in its diagnosis. PMID:27299136

Rare variants in FBN1 and FBN2 are associated with severe adolescent idiopathic scoliosis

PubMed Central

Buchan, Jillian G.; Alvarado, David M.; Haller, Gabe E.; Cruchaga, Carlos; Harms, Matthew B.; Zhang, Tianxiao; Willing, Marcia C.; Grange, Dorothy K.; Braverman, Alan C.; Miller, Nancy H.; Morcuende, Jose A.; Tang, Nelson Leung-Sang; Lam, Tsz-Ping; Ng, Bobby Kin-Wah; Cheng, Jack Chun-Yiu; Dobbs, Matthew B.; Gurnett, Christina A.

2014-01-01

Adolescent idiopathic scoliosis (AIS) causes spinal deformity in 3% of children. Despite a strong genetic basis, few genes have been associated with AIS and the pathogenesis remains poorly understood. In a genome-wide rare variant burden analysis using exome sequence data, we identified fibrillin-1 (FBN1) as the most significantly associated gene with AIS. Based on these results, FBN1 and a related gene, fibrillin-2 (FBN2), were sequenced in a total of 852 AIS cases and 669 controls. In individuals of European ancestry, rare variants in FBN1 and FBN2 were enriched in severely affected AIS cases (7.6%) compared with in-house controls (2.4%) (OR = 3.5, P = 5.46 × 10−4) and Exome Sequencing Project controls (2.3%) (OR = 3.5, P = 1.48 × 10−6). Scoliosis severity in AIS cases was associated with FBN1 and FBN2 rare variants (P = 0.0012) and replicated in an independent Han Chinese cohort (P = 0.0376), suggesting that rare variants may be useful as predictors of curve progression. Clinical evaluations revealed that the majority of AIS cases with rare FBN1 variants do not meet diagnostic criteria for Marfan syndrome, though variants are associated with tall stature (P = 0.0035) and upregulation of the transforming growth factor beta pathway. Overall, these results expand our definition of fibrillin-related disorders to include AIS and open up new strategies for diagnosing and treating severe AIS. PMID:24833718

Rare Combination of Pathologies Causing Mitral Stenosis and Mitral Regurgitation: A Case Report.

PubMed

Nair, Anupama K; Chowdhuri, Kuntal Roy; Radhakrishnan, Sitaraman; Iyer, Krishna S; Saxena, Manish

2018-01-01

A supramitral ring is a rare cause of mitral stenosis, while an isolated mitral valve cleft is a rare cause of congenital mitral regurgitation. Fortunately, both the lesions are known to have good outcomes after surgical correction. Although each is known to be associated with a variety of other structural heart defects, their coexistence has not been reported previously. We report a case of a three- and half-year-old boy detected to have a rare combination of supramitral ring producing severe mitral stenosis with a coexisting cleft in the anterior leaflet of mitral valve causing severe mitral regurgitation. The patient underwent successful surgical repair with resolution of both mitral stenosis and regurgitation.

Co-existence of Endometriotic Cyst of the Ovary and Arias-Stella Reaction in a Non-Pregnant Woman: Report of a Rare Case.

PubMed

Harikrishnan, Volga; Esaki, Muthuvel; Srinivasan, Chitra; Arockiasamy, Parimala; Ethirajan, Shanthi

2016-03-01

Endometriosis is defined as presence of endometrial tissue outside the uterus. It can occur anywhere in the ovary. In the ovary it is usually presented as cyst, termed as endometriotic cyst or Chocolate cyst. Arias-Stella reaction is usually seen in gestational endometrium or in ectopic gestation site and rarely in non-pregnant uterus with hormonal intake. Co-existence of endometriosis and Arias-Stella reaction is very rare. We present a very rare case of endometriotic cyst of the ovary exhibiting Arias -Stella reaction which was seen in of non pregnant patient without any history of hormonal intake.

Unilateral RS3PE in a Patient of Seronegative Rheumatoid Arthritis.

PubMed

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

2013-01-01

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

A rare case of 46,XX gonadal dysgenesis and Mayer-Rokitansky-Kuster-Hauser syndrome.

PubMed

Manne, Sriharibabu; Veeraabhinav, C H; Jetti, Mounica; Himabindu, Yalamanchali; Donthu, Kiranmai; Badireddy, Mutyalarayudu

2016-01-01

46,XX gonadal dysgenesis is a rare genetically heterogeneous disorder characterized by underdeveloped ovaries with consequent, impuberism, primary amenorrhea, and hypergonadotropic hypogonadism. Mullerian agenesis or Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome is characterized by congenital aplasia of the uterus and the upper part (2/3) of the vagina in a woman with normal development of secondary sexual characteristics and a normal 46,XX karyotype. The phenotypic manifestations of MRKH syndrome may sometimes overlap with various other syndromes and require accurate delineation. The coexistence of both these disorders is extremely rare. Here, we report a case of 46,XX gonadal dysgenesis and MRKH syndrome with anatomically dispersed congenital anomalies unique among reported cases.

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.

Submucosal lipoma of the sigmoid colon as a rare cause of mucoid diarrhea: a case report.

PubMed

Dassanayake, S U B; Dinamithra, N P; Nawarathne, N M M

2016-01-20

Symptomatic presentations of colonic lipomas are very rare in clinical practice, and may mimic colonic malignancy. The likelihood of presenting symptoms has been shown to depend on the size of the lesion. We describe the case of a 72-year-old Sinhalese man presenting with worsening mucoid diarrhea who was subsequently diagnosed to have a lipoma of the sigmoid colon. His disease was successfully managed with endoscopic resection. Confidently establishing the rare diagnosis of a colonic lipoma usually requires a combination of endoscopic, radiological, and histological evaluation, and is therefore very challenging. With the advancement of endoscopic procedures, endoscopic resection is widely practiced as the definitive management of these cases.

[Application of multiplex rt-PCR assay for screening rare or cryptic chromosome translocations in de novo patients with acute myeloid leukemia].

PubMed

Chen, Hai-Min; Yuan, Hai-Yang; Fan, Xing; He, Hai-Yan; Chen, Bing; Shi, Jing-Yi; Zhu, Yong-Mei

2010-10-01

This study was aimed to investigate the clinical feasibility of using multiplex PT-PCR assay for screening rare/cryptic chromosome translocations in patients with de novo acute myeloid leukemia. For 126 patients with de novo AML-M4/M5 without common chromosome translocations including t(15;17), t(8;21) and t(16;16), 3 parallel multiplex RT-PCR assays were set up to detect 6 mll-related gene rearrangements (mll/af10, mll/af17, mll/ell, mll/af9, mll/af6 and mll/enl) with low detection rate and 4 rare fusion genes (dek/can, tls/erg, aml1/mds (evi1) and npm/mlf1). The results showed that 11 patients with positive result from 126 patients were detected which involved in 5 molecular abnormalities. Among them, 10 cases were AML-M5 (16.67%), 1 cases AML-M4 (1.51%). The marker chromosomes were observed in 2 cases out of 11 cases through conventional karyotyping analysis, the karyotyping analysis in 1 case was not performed because this case had 1 mitotic figure only, no any cytogenetic aberrations were found in other 8 cases through R-band karyotyping analysis. It is concluded that multiplex RT-PCR designed in this study can quickly, effectively and accurately identify the rare/cryptic chromosome translocations and can be used in clinical detection.

Dandy-Walker syndrome with duplex kidney abnormalities in trisomy 18 - A rare case report.

PubMed

Wang, Tun-Jun; Li, Yi-Ying; Wu, Wan-Ju; Lin, Chi-Kang; Wang, Chun-Kai; Wang, Chen-Yu; Hwang, Kwei-Shuai; Su, Her-Young

2017-10-01

Trisomy 18 is one of the major numerical chromosomal disorders. The incidence of trisomy 18 is approximately one in 6000 live births. Dandy-Walker malformation (DWM) is the most common congenital malformation of the cerebellum, with an incidence of about one in 5000 live births. The incidence of trisomy 18 associated with DWM is rare and long-term survival rate is very low. A case involving a 39-year-old pregnant female with a case of trisomy 18 associated with DWM. The incidence of trisomy 18 associated with DWM is rare, and our report presents an unusual case that supplements our knowledge of this condition. We report a case involving a 39-year-old pregnant female with a case of trisomy 18 associated with Dandy-Walker malformation (DWM). Fetal ultrasonography showed hypoplasia of the cerebellar vermis and dilatation of the fourth ventricle and was characterized by an enlarged posterior fossa. Fetal magnetic resonance imaging showed inferior vermian hypoplasia and a large posterior fossa cyst communicating with the fourth ventricle causing high insertion of the torcular herophili, which was compatible with DWM. Furthermore, the karyotyping report revealed trisomy 18. The incidence of trisomy 18 associated with DWM is rare, and our report presents an unusual case that supplements our knowledge of this condition. Copyright © 2017. Published by Elsevier B.V.

Orocervical foetus-in-foetu with prenatal sonographic diagnosis: a case report

PubMed Central

Braimoh, Kolawole T; Abdulkadir, Adekunle Y; Balogun, Rabiu O

2008-01-01

Introduction Foetus-in-foetu is a very rare congenital abnormality where a malformed foetus is included within the body of another foetus. Less than 200 cases have been reported with over 80% occurring in the abdomen. Only three cases of cervical foetus in foetu have been reported. The present case of giant orocervical foetus-in-foetu appears to be an index case. Case presentation This is a report of an extremely rare orocervical foetus-in-foetu with grotesque oddity diagnosed on prenatal ultrasonography at 35 weeks gestational age in a 28-year-old, G2P1+0, Nigerian woman who was unsure of her last menstrual date or month. The included foetus had two eyes, cranium, nose, long bones and a spine. The mother's attempts at vaginal delivery rather than the elective Caesarean delivery she was offered resulted in obstructed labour and intrauterine foetal demise. Conclusion Giant cervical foetus-in-foetu is extremely rare. It could result in obstructed labour if vaginal delivery is attempted. PMID:19055795

Renal hemangiopericytoma secondary to refractory hypertension in a child: A case report.

PubMed

Hu, Qingfeng; Fang, Zujun; Zhou, Zhongwen; Zheng, Jie

2014-12-01

Hemangiopericytoma is a rare perivascular tumor that often involves the extremities, pelvis, head and neck, and meninges, but rarely occurs in the kidney. The differentiation from renal cancer prior to surgery is extremely challenging; therefore, almost all cases of renal hemangiopericytoma are diagnosed by pathological examination. The majority of cases are identified in patients between the ages of 20 and 50 years of age, and a considerable proportion of patients exhibit hypertension, hypoglycaemia or additional paraneoplastic syndromes. The current study reports a rare case of renal hemangiopericytoma with drug refractory hypertension in a 14-year-old female. Following the complete resection of the tumor, the patient's blood pressure returned to normal. No evidence of recurrence or metastasis was observed during a follow-up of 12 months following surgery. The present case indicated that surgery provides satisfactory outcomes and appears to be the most effective modality of treatment for renal hemangiopericytoma. Furthermore, this case also demonstrated that secondary hypertension may also recover following tumor excision.

Xeroderma pigmentosum complementation group F: A rare cause of cerebellar ataxia with chorea.

PubMed

Carré, G; Marelli, C; Anheim, M; Geny, C; Renaud, M; Rezvani, H R; Koenig, M; Guissart, C; Tranchant, C

2017-05-15

The complementation group F of Xeroderma pigmentosum (XP-F) is rare in the Caucasian population, and usually devoid of neurological symptoms. We report two cases, both Caucasian, who exhibited progressive cerebellar ataxia, chorea, a mild subcortical frontal cognitive impairment, and in one case severe polyneuropathy. Brain MRI demonstrated cerebellar (2/2) and cortical (1/2) atrophy. Both patients had only mild sunburn sensitivity and no skin cancer. Mini-exome sequencing approach revealed in ERCC4, two heterozygous mutations, one of which was never described (c.580-584+1delCCAAGG, exon 3), in the first case, and an already reported homozygous mutation, in the second case. These cases emphasize that XP-F is a rare cause of recessive cerebellar ataxia and can in some cases clinically mimic Huntington's disease due to chorea and executive impairment. The association of ataxia, chorea, and sun hypersensitivity are major guidance for the diagnosis, which should not be missed, in order to prevent skin neoplastic complications. Copyright © 2017 Elsevier B.V. All rights reserved.

Permanent hypopituitarism is rare after structural traumatic brain injury in early childhood.

PubMed

Heather, Natasha L; Jefferies, Craig; Hofman, Paul L; Derraik, José G B; Brennan, Christine; Kelly, Patrick; Hamill, James K M; Jones, Rhys G; Rowe, Deborah L; Cutfield, Wayne S

2012-02-01

We sought to determine the incidence of permanent hypopituitarism in a potentially high-risk group: young children after structural traumatic brain injury (TBI). We conducted a cross-sectional study with longitudinal follow-up. Dynamic tests of pituitary function (GH and ACTH) were performed in all subjects and potential abnormalities critically evaluated. Puberty was clinically staged; baseline thyroid function, prolactin, IGF-I, serum sodium, and osmolality were compared with age-matched data. Diagnosis of GH deficiency was based on an integrated assessment of stimulated GH peak (<5 μg/liter suggestive of deficiency), IGF-I, and growth pattern. ACTH deficiency was diagnosed based on a subnormal response to two serial Synacthen tests (peak cortisol <500 nmol/liter) and a metyrapone test. We studied 198 survivors of structural TBI sustained in early childhood (112 male, age at injury 1.7 ± 1.5 yr) 6.5 ± 3.2 yr after injury. Sixty-four of the injuries (33%) were inflicted and 134 (68%) accidental. Two participants had developed precocious puberty, which is within the expected background population rate. Peak stimulated GH was subnormal in 16 participants (8%), in the context of normal IGF-I and normal growth. Stimulated peak cortisol was low in 17 (8%), but all had normal ACTH function on follow-up. One participant had a transient low serum T(4). Therefore, no cases of hypopituitarism were recorded. Permanent hypopituitarism is rare after both inflicted and accidental structural TBI in early childhood. Precocious puberty was the only pituitary hormone abnormality found, but the prevalence did not exceed that of the normal population.

Silicon rich nitride ring resonators for rare - earth doped telecommunications-band amplifiers pumped at the O-band.

PubMed

Xing, P; Chen, G F R; Zhao, X; Ng, D K T; Tan, M C; Tan, D T H

2017-08-22

Ring resonators on silicon rich nitride for potential use as rare-earth doped amplifiers pumped at 1310 nm with amplification at telecommunications-band are designed and characterized. The ring resonators are fabricated on 300 nm and 400 nm silicon rich nitride films and characterized at both 1310 nm and 1550 nm. We demonstrate ring resonators exhibiting similar quality factors exceeding 10,000 simultaneously at 1310 nm and 1550 nm. A Dysprosium-Erbium material system exhibiting photoluminescence at 1510 nm when pumped at 1310 nm is experimentally demonstrated. When used together with Dy-Er co-doped particles, these resonators with similar quality factors at 1310 nm and 1550 nm may be used for O-band pumped amplifiers for the telecommunications-band.

Retroperitoneal Haematoma in a Patient with Dengue Haemorrhagic Fever: A Rare Case Report.

PubMed

Singh, Jasminder; Singh, Harpreet; Sukhija, Gagandeep; Jagota, Ruchi; Bala, Saroj

2016-11-01

Dengue Haemorrhagic Fever (DHF) has diverse manifestations ranging from asymptomatic petechial skin haemorrhages to life threatening cerebral, pulmonary, gastrointestinal and genitourinary haemorrhages. However, the association of spontaneous retroperitoneal haematomas with DHF is not well documented in literature. We report a rare case of spontaneous retroperitoneal haematoma complicating DHF.

Cervical Cancer as a silent killer: A rare case report with review of literature.

PubMed

Pandey, Deeksha; Shetty, Jyothi; Sambhaji, Charudatt; Saxena, P U; Mishra, Dilip; Chawla, Arun

2015-01-01

Advanced-stage cervical cancer almost always presents either with abnormal vaginal bleeding or with foul-smelling vaginal discharge. We present here a rare case, where a postmenopausal lady presented almost silently with stage IVA cervical cancer. Fortunately, timely referral, correct diagnosis, and multispecialty team work could save her life.

Fryns anophthalmia-plus syndrome: two rare cases.

PubMed

Bozkurt, O; Bidev, D; Sari, F N; Dizdar, E A; Ulu, H O; Uras, N; Oguz, S S; Canpolat, F E; Dilmen, U

2014-01-01

Fryns anophthalmia-plus syndrome is a rare syndrome with clinical diversity primarily including anophthalmia/microphthalmia, facial clefts, cleft lip/palate, ear and nasal deformities. Here we present two different cases of APS with anopthalmia/microphthalmia, cleft palate, low set ears, ventriculomegaly and one of which had intestinal non-fixation anomaly not described in the literature before.

Sigmoid Volvulus Through a Transmesenteric Hernia.

PubMed

Brandão, Pedro Nuno; Martins, Vilma; Silva, Cristina; Davide, José

2017-06-01

Internal hernias are a rare pathology with very low incidence. Transmesenteric hernias represent less than 10% of all cases and may occur at any age. They involve more often the small bowel and, more rarely, the colon. We present a case of a sigmoid volvulus through a transmesenteric hernia in a 19-year-old patient.

Primary renal diffuse large B-cell lymphoma with central nervous system involvement: a rare case report and literature review.

PubMed

Wang, Ying; Guo, Shuangshuang

2015-01-01

Primary renal lymphoma is a rare entity. Of these, diffuse large B-cell lymphoma is the most common pathological type and, R-CHOP regimen was the preferred chemotherapy for it. Here we present an adult case of primary renal diffuse large B-cell lymphoma.

Rett'S syndrome : a case report.

PubMed

Gupta, V

2001-01-01

Rett's syndrome is a rare condition affecting only the girl child. It presents as a pervasive developmental disorder with a remarkable behavioural phenotype. The cause for this remains unknown but genetic factors and brain dysfunction have been implicated. This case report emphasises the importance of being aware of rare yet significant disorders of interest to neuro-developmental psychiatrists.

Sea change under climate change: case studies in rare plant conservation from the dynamic San Francisco Estuary

USDA-ARS?s Scientific Manuscript database

We present case studies supporting management of two rare plant species in tidal wetlands of the San Francisco Estuary. For an annual hemiparasite, we used demographic analyses to identify factors to enhance population establishment, survivorship and fitness, and to compare reintroduced with natura...

Naegeli–Franceschetti–Jadassohn syndrome: A rare case

PubMed Central

Shah, Bela J.; Jagati, Ashish K.; Gupta, Neha P.; Dhamale, Suyog S.

2015-01-01

Naegeli–Franceschetti–Jadassohn Syndrome (NFJS) is a rare, autosomal dominant inherited form of ectodermal dysplasia, caused by mutation in the KRT14 gene. We report here a case of NFJS in a 27-year-old male who presented with reticulate hyperpigmentation over skin, dental changes, absence of dermatoglyphics, hypohidrosis, and hair changes. PMID:26753140

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.

Rare case of Isolated Aspergillus Osteomyelitis of Toe: Presentation and Management

PubMed Central

Pattanashetty, O.B.; B.B., Dayanand; Bhavi, Shushrut B; Bami, Monish

2013-01-01

Introduction: Fungal osteomyelitis is an uncommon diseases and generally present in an indolent fashion. Isolated bone affection due to fungi are rare and we present one such case with fungal osteomyelitis of terminal phalanx of second toe. Case Report: We present a rare case of fungal osteomyelitis of right second toe in a 30 year old Indian female who presented with swelling of 8 months duration. Diagnosis was based on the histo-pathological report and culture showing Aspergillus growth. The patient was treated with surgical debridement and amphotericin-B was given for 6 weeks after debridement. There was no recurrence one year post surgery. Conclusion: Isolated Aspergillus osteomyelitis of the bone are very rare and mostly seen in immunocompromised patients and larger bones like spine, femur and tibia. Treatment with wound debridement and subsequently followed up with a course of Amphotericin-B for 6 weeks provided good results. There was no recurrence noted at 1 year follow up. Fungi should be kept in mind for differential diagnosis of osteomyelitis and culture should be appropriately ordered. PMID:27298903

Rare paratesticular aggressive angiomyxoma with negative oestrogen and progesterone receptors in a male patient.

PubMed

Neyaz, Azfar; Husain, Nuzhat; Anand, Nidhi; Srivastava, Pallavi

2018-06-04

Aggressive angiomyxoma (AAM) is a rare mesenchymal myxoid tumour localised to the pelvis and/or perineum in adult females in reproductive age group. AAM is very rare in males, with <50 cases described in literature, and involves scrotum, spermatic cord and perineum. It is slow growing, with a marked tendency for local recurrence after excision, but without metastatic potential. We present a rare case of a paratesticular AAM in a man aged 53 years. Tumour cells were immunoreactive for desmin, smooth muscle actin (SMA), vimentin, CD34 and were negative for S100. Unlike AAMs in females which express oestrogen receptor (ER) and/or progesterone receptor (PR) in >90% cases, the tumour cells in our case were negative for ER and PR, suggesting that the hypothesis that these markers play a role in tumour development and pathogenesis, does not apply in males. Androgen receptor positivity was noted in 2%-5% tumour cells. © BMJ Publishing Group Ltd (unless otherwise stated in the text of the article) 2018. All rights reserved. No commercial use is permitted unless otherwise expressly granted.

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.

The value of fine needle aspiration cytology in the clinical management of rare salivary gland tumors

PubMed Central

Mezei, Tibor; Mocan, Simona; Ormenisan, Alina; Baróti, Beáta; Iacob, Alina

2018-01-01

Abstract Salivary gland tumors are relatively rare neoplasms, mostly located in the parotid gland, and few are malignant. Preoperative evaluation of salivary gland tumors includes fine needle aspiration cytology (FNAC). Objective The purpose of this study was to determine the importance of FNAC in the evaluation of rare salivary gland neoplasms. Material and Methods Four cases of rare salivary gland tumors were included, which were preoperatively assessed by clinical investigation, computed tomography, and FNAC. Results The presented cases include myoepithelial carcinoma, oncocytic carcinoma, undifferentiated lymphoepithelial carcinoma, and marginal zone lymphoma. Conclusion FNAC is a reliable diagnostic tool for common salivary gland neoplasms; however, rare tumors often represent diagnostic challenges. Clinical relevance In such rare tumors, the role of aspiration cytology may be limited to establishing the dignity of the lesion (benign/malignant). This knowledge enables the surgeon to choose the most appropriate therapeutic procedure. A definitive diagnosis of rare tumors (either epithelial or nonepithelial) is obtained by histological examination; cytology is limited in this regard due to overlapping features. PMID:29489937

Rare missense coding variants in oxytocin receptor (OXTR) in schizophrenia cases are associated with early trauma exposure, cognition and emotional processing.

PubMed

Veras, Andre B; Getz, Mara; Froemke, Robert C; Nardi, Antonio Egidio; Alves, Gilberto Sousa; Walsh-Messinger, Julie; Chao, Moses V; Kranz, Thorsten M; Malaspina, Dolores

2018-02-01

Oxytocin is a peptide hormone that influences the integration of social cognition with behavior and affect regulation. Oxytocin also prominently directs the transition of neuronal GABA neurotransmission from excitatory to inhibitory after birth. The oxytocin receptor (OXTR) is linked to schizophrenia, a heterogeneous syndrome. Relationships of OXTR polymorphisms with specific clinical features could aid in evaluating any role of oxytocin in the pathogenesis of schizophrenia. Schizophrenia cases with rare missense coding OXTR single nucleotide variants (SNVs) were identified from a well-characterized sample of cases and controls who were assessed for symptoms, cognition and early life trauma. Five of 48 cases showed rare OXTR variants. Compared to the other cases they had less severe negative symptoms (deficits in emotional expression and motivation) and less severe general psychopathology scores (depression and anxiety). They demonstrated lower nonverbal (performance) than verbal intelligence due to deficient perceptual organization and slow processing speed. They also reported greater early trauma exposure (physical and sexual abuse and emotional trauma). Cases carrying rare OXTR SNVs had less negative and affective symptoms than other cases, but similar psychotic symptoms, along with specific cognitive deficits. The clinical characterization of these cases occurred in association with environmental exposure to early trauma, especially sexual abuse, which may have influenced the expression of schizophrenia in subjects harboring specific SNVs in the OXTR. Copyright © 2017 Elsevier Ltd. All rights reserved.

A probabilistic storm transposition approach for estimating exceedance probabilities of extreme precipitation depths

NASA Astrophysics Data System (ADS)

Foufoula-Georgiou, E.

1989-05-01

A storm transposition approach is investigated as a possible tool of assessing the frequency of extreme precipitation depths, that is, depths of return period much greater than 100 years. This paper focuses on estimation of the annual exceedance probability of extreme average precipitation depths over a catchment. The probabilistic storm transposition methodology is presented, and the several conceptual and methodological difficulties arising in this approach are identified. The method is implemented and is partially evaluated by means of a semihypothetical example involving extreme midwestern storms and two hypothetical catchments (of 100 and 1000 mi2 (˜260 and 2600 km2)) located in central Iowa. The results point out the need for further research to fully explore the potential of this approach as a tool for assessing the probabilities of rare storms, and eventually floods, a necessary element of risk-based analysis and design of large hydraulic structures.

[Superimposed lichen planus pigmentosus].

PubMed

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

2014-05-16

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

Importance of Antecedent Beach and Surf-Zone Morphology to Wave Runup Predictions

DTIC Science & Technology

2016-10-01

position on the dune, the laser reflects well off of the water surface when foam is present (blue dots, Figure 1B). Maximum range of measurement...depends upon the amount of breaking and foam present in the surf-zone at any given time, but rarely exceeds 150 m for this laser scanner. Drawbacks to...determined by reverse-shoaling data from the FRF’s 11 m Acoustic Wave and Current (AWAC) profiler to deep water values. Local water levels (tide and surge

Bilateral sacroiliac joint dislocation (anterior and posterior) with triradiate cartilage injury: a case report.

PubMed

Lee, Dae-Hee; Jeong, Woong-Kyo; Inna, Prashanth; Noh, Won; Lee, Dong-Ki; Lee, Soon-Hyuck

2011-12-01

Pediatric sacroiliac joint injuries are uncommon. Significant pelvis ring disruptions in children are rare, and their management is complicated by patient size, differences in bony architecture, and future growth and remodeling potential. We present a rare case of anterior sacroiliac joint dislocation associated with triradiate cartilage injury with a posterior sacroiliac dislocation on the contralateral side. This appears to be the first such case reported in the literature.

The lipoma of tongue - A rare site for a tumor: Case report and review of the literature

PubMed Central

Baonerkar, Hemant A.; Vora, Meena; Sorathia, Rakesh; Shinde, Swapnil

2015-01-01

Lipoma is the most common tumor of the human body, but their presences in the oral cavity are very rare. Reported cases of lipoma of tongue in English literature are very few. Here, we report a case of lipoma of tongue in 63-year-old male patient, with its clinical presentation, the histological picture, classification, and brief review of the literature. PMID:26752882

A rare case of malignant triton tumor in the cerebellopontine angle.

PubMed

Gong, Li; Liu, Xiao-Yan; Zhang, Wen-Dong; Han, Xiu-Juan; Yao, Li; Zhu, Shao-Jun; Lan, Miao; Li, Yan-Hong; Zhang, Wei

2012-04-19

Malignant triton tumor (MTT) is defined as malignant peripheral nerve sheath tumor with rhabdomyoblastic differentiation. Intracranial MTT is extremely rare, and only four cases have been reported in the literature. Here, we report a case of MTT occurring in the cerebellopontine angle, and describe its histopathological characteristics, immunohistochemical features, and prognosis. The virtual slide(s) for this article can be found here: http://www.diagnosticpathology.diagnomx.eu/vs/1336227313684480.

Waardenburg syndrome: A rare genetic disorder, a report of two cases

PubMed Central

Kumar, Sudesh; Rao, Kiran

2012-01-01

Waardenburg syndrome (WS) is a rare genetic disorder. Patients have heterochromia or eyes with iris of different color, increased inter-canthal distance, distopia canthorum, pigmentation anomalies, and varying degree of deafness. It usually follows autosomal dominant pattern. In this report, two cases have been discussed but no familial history of WS has been found. Counseling of the patient is necessary and cases of irreversible deafness have been treated. PMID:23162308

Endobronchial angiofibroma in the aberrant tracheal bronchus presenting as spontaneous pneumomediastinum.

PubMed

Kim, Kyung Soo; Moon, Young Kyu; Jeon, Hyun Woo; Park, Chan Beom; Ahn, Myeong Im; Lee, Kyo Young; Park, Jae Kil

2015-07-22

Spontaneous pneumomediastinum is a self-limiting benign disease but abnormal bronchial lesions can be rarely found incidentally, and in selected cases will require surgical resection. A 38-year-old man presented with a spontaneous pneumomediastinum. Chest computed tomography revealed an incidental linear endobronchial tumour in the aberrant tracheal bronchus. The tumour was removed surgically and diagnosed with a rare benign tumour of endobronchial angiofibroma. We report a rare case of endobronchial angiofibroma in the aberrant tracheal bronchus which was detected during the evaluation of a spontaneous pneumomediastinum.

Bilateral Ewing Sarcoma/Primitive Neuroectodermal Tumor of the Breast: A Very Rare Entity and Review of the Literature

PubMed Central

Majid, N.; Amrani, M.; Ghissassi, I.; El Cadi, M.; El Bouzidi, M.; El Kabous, M.; Kherbach, A.; Errihani, H.

2013-01-01

Peripheral primitive neuroectodermal tumors (PNET) are rare malignant tumors, affecting mostly children and adolescents and have been described in breast in eight case reports only. In this paper, we present a case of bilateral mammary ES/PNET where distinction between primary and metastatic diseases was discussed through a literature review. The aim of this work is to demonstrate that although rare, the possibility of PNET should be kept in mind while evaluating a palpable breast abnormality in a young female. PMID:23819085

Giant Occipitocervical Lipomas: Evaluation with Two Cases

PubMed Central

Basmaci, Mehmet; Hasturk, Askin E

2012-01-01

Lipomas are capsulated benign tumours that are commonly found in all body parts. A lipoma is a well-defined mesenchymal tumour that arises from the adipose tissue. Although giant lipomas are rare in the head and neck regions, when they are located here, they are most commonly found in the subcutaneous posterior neck area. Recurrence as well as invasion is very rare after total surgical excision. In this article, we present two rare cases of giant lipomas in the posterior occipitocervical region, which is an exceptional location. PMID:23112521

Rare association of anophthalmia, complex congenital heart disease and pulmonary hypertension: case report.

PubMed

Ríos-Méndez, Raúl Enrique; Lozano Chinga, Michell Marola

2016-10-07

Clinical congenital anophthalmia is described as the uni- or bilateral absence of the eyeball that might occur in isolation or as part of a syndrome. It has a very low prevalence and its etiology is heterogeneous. Complex congenital cardiac malformations are also rare. The association of congenital anophthalmia and congenital heart disease is rarer still, and the etiology of those associations is not well understood yet. We report the case of a patient who had the very rare association of bilateral anophthalmia, multiple cardiac malformations and severe pulmonary hypertension.

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

PubMed

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

2017-06-01

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

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

PubMed Central

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

2017-01-01

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

Frederik Ruysch (1638–1731): Historical perspective and contemporary analysis of his teratological legacy

PubMed Central

Boer, Lucas; Radziun, Anna B.

2016-01-01

The Peter the Great Museum of Anthropology and Ethnography (Kunstkamera) in Saint Petersburg is the oldest museum in Russia. It keeps the remains of the anatomical collection of the world‐famous 17th century Dutch anatomist Frederik Ruysch. This unique collection was bought and shipped in 1717 by Czar Peter the Great, and presently still comprises more than 900 specimens, a modest number of which concerns specimens with congenital anomalies. We searched for teratological clues in the existing collection and in all his descriptions and correspondence regarding specimens and cases he encountered during his career as doctor anatomiae and chief instructor of the surgeons and midwives in Amsterdam. A total of 63 teratological specimens and case descriptions were identified in this legacy, including some exceedingly rare anomalies. As it turns out, Ruysch was the first to describe several of the conditions we encountered, including intracranial teratoma, enchondromatosis, and Majewski syndrome. Although his comments pose an interesting view on how congenital anomalies were scientifically perceived in early 18th century Europe, Ruysch mostly refrained from explaining the causes of the conditions he encountered. Instead, he dedicated himself to careful descriptions of his specimens. Almost 300 years after his demise, Ruysch's legacy still impresses and inspires both scientists and lay men. © 2016 The Authors. American Journal of Medical Genetics Part A Published by Wiley Periodicals, Inc. PMID:27126916