Extreme Quantum Memory Advantage for Rare-Event Sampling

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Cina Aghamohammadi

2018-02-01

Full Text Available We introduce a quantum algorithm for memory-efficient biased sampling of rare events generated by classical memoryful stochastic processes. Two efficiency metrics are used to compare quantum and classical resources for rare-event sampling. For a fixed stochastic process, the first is the classical-to-quantum ratio of required memory. We show for two example processes that there exists an infinite number of rare-event classes for which the memory ratio for sampling is larger than r, for any large real number r. Then, for a sequence of processes each labeled by an integer size N, we compare how the classical and quantum required memories scale with N. In this setting, since both memories can diverge as N→∞, the efficiency metric tracks how fast they diverge. An extreme quantum memory advantage exists when the classical memory diverges in the limit N→∞, but the quantum memory has a finite bound. We then show that finite-state Markov processes and spin chains exhibit memory advantage for sampling of almost all of their rare-event classes.

Neurological manifestation of colonic adenocarcinoma

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Uzair Chaudhary

2012-04-01

Full Text Available Paraneoplastic neurologic disorders are extremely rare in cancer patients and are most commonly associated with certain tumors, such as ovarian cancer, small cell lung cancer, and breast cancer. We report here a paraneoplastic neurological syndrome in a 53-year-old man with colonic adenocarcinoma with a solitary liver metastasis. His paraneoplastic syndrome was successfully treated by methylprednisolone and primary oncologic therapies including neoadjuvant chemotherapy and definitive surgery. This is also the first documented case of simultaneous manifestation of a sensory neuropathy and limbic encephalitis with colon cancer.

Caudal Regression and Encephalocele: Rare Manifestations of Expanded Goldenhar Complex

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Gabriella D’Angelo

2017-01-01

Full Text Available Oculoauriculovertebral spectrum, or Goldenhar Syndrome, is a condition characterized by variable degrees of uni- or bilateral involvement of craniofacial structures, ocular anomalies, and vertebral defects. Its expressivity is variable; therefore, the term “expanded Goldenhar complex” has been coined. The Goldenhar Syndrome usually involves anomalies in craniofacial structures, but it is known that nervous system anomalies, including encephalocele or caudal regression, may, rarely, occur in this condition. We report two rare cases of infants affected by Goldenhar Syndrome, associated with neural tube defects, specifically caudal regression syndrome and nasal encephaloceles, to underline the extremely complex and heterogeneous clinical features of this oculoauriculovertebral spectrum. These additional particular cases could increase the number of new variable spectrums to be included in the “expanded Goldenhar complex.”

A Rare Cause of Abdominal Pain in Childhood: Cardiac Angiosarcoma

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Elvan Caglar Citak

Full Text Available Abstract Cardiac angiosarcomas are extremely rare in childhood, they are rapidly progressive tumours that often present themselves as diagnostic dilemmas, resulting in delayed diagnosis. Also, extracardiac manifestations, including abdominal pain, are extremely rare in patients with intracardiac tumors. We herein present the case of a 15-year-old girl who presented with abdominal pain. Echocardiography and thoracic computed tomography showed right atrial mass. The patient underwent surgery, chemotherapy, and radiotherapy. Eight months after treatment, abdominal recurrence was detected. The abdominal mass was resected, and radiotherapy and new chemotherapy protocol were given. The present case illustrates a rare case of primary cardiac angiosarcoma posing a diagnostic dilemma in an adolescent girl.

Macrodystrophia lipomatosa: a rare presentation

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Sushil G. Kachewar

2011-07-01

Full Text Available Macrodystrophia lipomatosa is a rare congenital nonhereditary mesenchymal hamartomatous malformation resulting in localized gigantism of parts of extremities that manifests clinically as macrodactyly or megalodactyly. Radiological and Pathological hallmark is the disproportionate fibroadipose tissue proliferation in subcutaneous tissue, nerve sheaths, and periosteum that leads to soft tissue and bony enlargement. As imaging is the key to early diagnosis, findings on various modalities like plain radiographs, CT scan and MRI are highlighted here.

Osteoskeletal manifestations of scurvy: MRI and ultrasound findings

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Polat, Ahmet Veysel; Bekci, Tumay; Selcuk, Mustafa Bekir [Ondokuz Mayis University, Kurupelit, Department of Radiology, Faculty of Medicine, Samsun (Turkey); Say, Ferhat [Ondokuz Mayis University, Kurupelit, Department of Orthopaedics and Traumatology, Faculty of Medicine, Samsun (Turkey); Bolukbas, Emrah [Ondokuz Mayis University, Kurupelit, Department of Pediatrics, Faculty of Medicine, Samsun (Turkey)

2015-08-15

Scurvy has become very rare in the modern world. The incidence of scurvy in the pediatric population is extremely low. In the pediatric population, musculoskeletal manifestations are more common and multiple subperiosteal hematomas are an important indicator for the diagnosis of scurvy. Although magnetic resonance imaging findings of scurvy are well described in the literature, to our knowledge, ultrasound findings have not yet been described. In this article, we report a case of scurvy with associated magnetic resonance imaging and ultrasound findings. (orig.)

Orbital metastasis: A rare manifestation of scapular bone osteosarcoma

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Mohammad Taher Rajabi

2014-01-01

Full Text Available Purpose: To report a case of orbital metastasis from scapular bone osteosarcoma. Case Report: A 55-year-old man who was a known case of scapular bone osteosarcoma, was referred to our clinic with ocular symptoms including acute painful decreased vision, proptosis, conjunctival injection, and chemosis. He had undergone surgical excision of the original tumor and received systemic chemotherapy 4 months before. Imaging studies and incisional biopsy were performed for the orbital lesion, the histopathological examination confirmed the diagnosis of metastatic osteosarcoma. The patient was referred to the oncologist for palliative chemotherapy and further intervention; however, he deceased 2 months later due to sepsis in the context of immunosuppression. Conclusion: Metastatic involvement of the orbit due to osteosarcoma is a rare condition manifesting with orbital mass, pain, diplopia and ocular motility disturbance. Although there is no effective treatment, the combination of modalities such as chemotherapy, radiotherapy, and surgery may delay progression of the disease.

Extreme Descemet's membrane rupture with hydrops in keratoconus: Clinical and histological manifestations

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I-Ping Loh

2018-06-01

Full Text Available Purpose: To study the clinical and histological manifestations of an extreme Descemet's membrane rupture as a result of keratoconus. Observations: Using Periodic acid-Schiff assay to study a keratoconic cornea with an extreme rupture showed that the ruptured Descemet's membrane had retracted and folded into scrolls and ridges. The dimensions of the rupture were estimated to be 3.7mm2, and the central cornea was extremely thinned with a thickness of only 260μm. Stromal scarring and loosely packed lamellae were present anterior to the scrolls and ridges. Antibodies targetting the major components of Descemet's membrane, Laminin and type IV collagen, displayed intense labelling adjacent to the scrolls where the stroma was denuded and differential expression patterns lined the ridges. Environmental scanning electron microscopy showed possible collagen deposition at the site of rupture. Conclusions and importance: The specific staining patterns of laminin and type IV collagen suggest these components have an important role in re-endothelisation of the cornea. This is the first known report of spatial resolution of the topography of the Descemet's membrane rupture established by environmental scanning electron microscopic image montage. Keywords: Keratoconus, Descemet's membrane, Descemet's tear, Hydrops, Corneae, Histology

A rare disease in an atypical location - Kimura's Disease of the upper extremity

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Lam, Alan Cheuk Si; Lau, Vince Wing Hang [Queen Mary Hospital, Department of Radiology, Hong Kong (China); Au Yeung, Rex Kwok Him [University of Hong Kong, Department of Pathology, Li Ka Shing Faculty of Medicine, Hong Kong (China)

2015-12-15

Kimura's disease is a rare chronic inflammatory disorder predominantly affecting young Asian male patients, occurring mainly in the head and neck regions. Kimura's disease of the upper extremity is extremely rare, and previous case reports in the literature show similar imaging characteristics with consistent location at the medial epitrochlear region, predominantly with unilateral involvement. We present the first reported case of Kimura's disease affecting the anterolateral aspect of the upper arm, sparing the medial epitrochlear region, illustrating that with typical MR appearance and serology, the involvement of this rare disease in an atypical location still warrants consideration of this diagnosis. There was also bilateral asymmetrical involvement in our patient, suggesting the possibility of a propensity for Kimura's disease affecting the upper extremities to have bilateral involvement, which may necessitate imaging of the clinically asymptomatic contralateral limb in these patients for early lesion identification and treatment. (orig.)

A rare disease in an atypical location - Kimura's Disease of the upper extremity

International Nuclear Information System (INIS)

Lam, Alan Cheuk Si; Lau, Vince Wing Hang; Au Yeung, Rex Kwok Him

2015-01-01

Kimura's disease is a rare chronic inflammatory disorder predominantly affecting young Asian male patients, occurring mainly in the head and neck regions. Kimura's disease of the upper extremity is extremely rare, and previous case reports in the literature show similar imaging characteristics with consistent location at the medial epitrochlear region, predominantly with unilateral involvement. We present the first reported case of Kimura's disease affecting the anterolateral aspect of the upper arm, sparing the medial epitrochlear region, illustrating that with typical MR appearance and serology, the involvement of this rare disease in an atypical location still warrants consideration of this diagnosis. There was also bilateral asymmetrical involvement in our patient, suggesting the possibility of a propensity for Kimura's disease affecting the upper extremities to have bilateral involvement, which may necessitate imaging of the clinically asymptomatic contralateral limb in these patients for early lesion identification and treatment. (orig.)

Extreme magnetoresistance in magnetic rare-earth monopnictides

Science.gov (United States)

Ye, Linda; Suzuki, Takehito; Wicker, Christina R.; Checkelsky, Joseph G.

2018-02-01

The acute sensitivity of the electrical resistance of certain systems to magnetic fields known as extreme magnetoresistance (XMR) has recently been explored in a new materials context with topological semimetals. Exemplified by WTe2 and rare-earth monopnictide La(Sb,Bi), these systems tend to be nonmagnetic, nearly compensated semimetals and represent a platform for large magnetoresistance driven by intrinsic electronic structure. Here we explore electronic transport in magnetic members of the latter family of semimetals and find that XMR is strongly modulated by magnetic order. In particular, CeSb exhibits XMR in excess of 1.6 ×106% at fields of 9 T whereas the magnetoresistance itself is nonmonotonic across the various magnetic phases and shows a transition from negative magnetoresistance to XMR with fields above magnetic ordering temperature TN. The magnitude of the XMR is larger than in other rare-earth monopnictides including the nonmagnetic members and follows a nonsaturating power law to fields above 30 T. We show that the overall response can be understood as the modulation of conductivity by the Ce orbital state and for intermediate temperatures can be characterized by an effective medium model. Comparison to the orbitally quenched compound GdBi supports the correlation of XMR with the onset of magnetic ordering and compensation and highlights the unique combination of orbital inversion and type-I magnetic ordering in CeSb in determining its large response. These findings suggest a paradigm for magneto-orbital control of XMR and are relevant to the understanding of rare-earth-based correlated topological materials.

Ocular manifestations in the Hutchinson-Gilford progeria syndrome

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Shivcharan L Chandravanshi

2011-01-01

Full Text Available The Hutchinson-Gilford progeria (HGP syndrome is an extremely rare genetic condition characterized by an appearance of accelerated aging in children. The word progeria is derived from the Greek word progeros meaning ′prematurely old′. It is caused by de novo dominant mutation in the LMNA gene (gene map locus 1q21.2 and characterized by growth retardation and accelerated degenerative changes of the skin, musculoskeletal and cardiovascular systems. The most common ocular manifestations are prominent eyes, loss of eyebrows and eyelashes, and lagophthalmos. In the present case some additional ocular features such as horizontal narrowing of palpebral fissure, superior sulcus deformity, upper lid retraction, upper lid lag in down gaze, poor pupillary dilatation, were noted. In this case report, a 15-year-old Indian boy with some additional ocular manifestations of the HGP syndrome is described.

Rare lung manifestation of multifocal micronodular pneumocyte hyperplasia in a teenage girl with tuberous sclerosis complex

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Ha, Seung Mi; Yoon, Hye Kyung; Lee, Seung Koo [Kangwon National University Hospital, Chuncheon (Korea, Republic of)

2016-08-15

Multifocal micronodular pneumocyte hyperplasia (MMPH) is a relatively rare pulmonary disorder that can be associated with tuberous sclerosis complex (TSC). It has been rarely reported in children or adolescents. MMPH is a hamartomatous process of the lung with multiple small nodules, composed of type II pneumocytes. Plain radiography and chest CT in MMPH may demonstrate numerous small nodules measuring 1-10 mm in diameters, distributed randomly throughout both lungs. If MMPH is an initial presentation of TSC, and unless we are familiar with this lung manifestation of TSC, radiologic findings can mimic miliary tuberculosis or metastatic disease. We report a teenage girl with TSC and histologically confirmed MMPH which mimicked miliary tuberculosis at the initial presentation.

Rare lung manifestation of multifocal micronodular pneumocyte hyperplasia in a teenage girl with tuberous sclerosis complex

International Nuclear Information System (INIS)

Ha, Seung Mi; Yoon, Hye Kyung; Lee, Seung Koo

2016-01-01

Multifocal micronodular pneumocyte hyperplasia (MMPH) is a relatively rare pulmonary disorder that can be associated with tuberous sclerosis complex (TSC). It has been rarely reported in children or adolescents. MMPH is a hamartomatous process of the lung with multiple small nodules, composed of type II pneumocytes. Plain radiography and chest CT in MMPH may demonstrate numerous small nodules measuring 1-10 mm in diameters, distributed randomly throughout both lungs. If MMPH is an initial presentation of TSC, and unless we are familiar with this lung manifestation of TSC, radiologic findings can mimic miliary tuberculosis or metastatic disease. We report a teenage girl with TSC and histologically confirmed MMPH which mimicked miliary tuberculosis at the initial presentation

Microscopic haematuria: A rare presentation of typhoid fever.

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Nisahan, Balasingam; Thirunavukarasu, Kumanan; Selvaratnam, Gowry

2015-04-01

Typhoid fever can cause a number of renal manifestations heretofore dubbed 'nephrotyphoid'. Haematuria in the absence of renal impairment is extremely rare among typhoid patients. We report a case of an adult who presented with a prolonged febrile illness and microscopic haematuria. Blood culture confirmed the diagnosis of typhoid and the patient was treated successfully with ceftriaxone. © The Author(s) 2014 Reprints and permissions: sagepub.co.uk/journalsPermissions.nav.

Congenital cutaneous candidiasis: A rare and unpredictable disease

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Sujit A Jagtap

2011-01-01

Full Text Available Congenital cutaneous candidiasis (CCC is an extremely rare disorder that presents within the first 6 days of life. The manifestations ranges from diffuse skin eruption without any systemic symptoms to respiratory distress, hepatosplenomegaly, sepsis, and death. We report a neonate who presented with generalized skin eruptions at birth, characterized by erythematous macules and papules. The eruption involved head, face, neck, trunk, and extremities. Candida albicans was demonstrated on direct KOH smear, skin biopsy. The disease implies a congenital intrauterine infection and is different from neonatal candidiasis, which manifests as thrush or diaper dermatitis. The infection is acquired from the maternal genital tract in an ascending fashion. Clinical features, direct smear examination of specimen, and appropriate cultures are useful in differentiating the lesions from other more common dermatoses of the neonatal period. Topical antifungal therapy is sufficient unless systemic candidiasis is present. Prognosis for congenital cutaneous candidiasis is good.

Hypercortisolism and hyperandrogenism as manifestions of adrenal adenoma. Report of a mexican girl and review of the literature

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de Baro Álvarez Paola

2014-07-01

Conclusion: Because ACTs are extremely rare in chil- dren, a small percentage is detected based on clinical manifestations of virilization and Cushing’s syndrome as in our case. For this reason, we should be aware of their existence in order to make the diagnosis and treat them as soon as possible.

Oral manifestations of lamellar ichthyosis: A rare case report

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Keerthi K Nair

2016-01-01

Full Text Available The ichthyoses are a heterogeneous group of disorders with both inherited and acquired forms. Autosomal recessive congenital ichthyosis (ARCI is a heterogeneous group of disorders that present at birth with the generalized involvement of skin without other systemic manifestations. Lamellar itchthyosis (LI is a nonsyndromic itchthyosis, which comes under the umbrella of ARCI. Little is only known about the oral manifestations of this disorder. We report a case of LI with oral manifestations.

MR manifestation of lower extremity rhabdomyolysis caused by crush injury in earthquake

International Nuclear Information System (INIS)

Li Zhengyan; Zou Ling; Song Bin; Liu Chang; Sun Jiayu; Zhang Weiwei; Zhang Cuiping

2008-01-01

Objective: Rhabdomyolysis (RM) is a common disorder resulting from a large variety of causes. Acute injury is one of the main reasons. The purpose is to describe the MRI manifestations of rhabdomyolysis caused by 5.12 Wenchuan earthquake in Sichuan province and to discuss their importance in diagnosis and treatment of rhabdomyolysison in clinic practice. Methods: Three patients with rhabdomyolysis caused by earthquake were studied via 1.5 T MRI. In all the patients, T 1 and T 2 weighted sequences with and without fat suppression, and short time inversion recovery (STIR) of both lower extremities were obtained in axial, coronal and sagittal planes. All patients were given contrast material during imaging, and MRA (magnetic resonance angiography) of both lower extremity vessels were performed. The MRI characteristics of damaged extremities in 3 cases were studied. Results: MRI showed swelling of the affected muscles and subcutaneous fat tissue on both T 1 and T 2 weighted images. The margins of involved muscles were blurred. On T 1 weighted images, swollen muscles showed equal or slightly decreased intensity with small patterns of increased intensity in some local areas. On T 2 weighted and STIR sequences, the affected muscles showed inhomogeneous increased signal intensity with clearer margin. Slight fluid collection in spatium intermusculare was observed. Contrast-enhanced scanning showed nonhomologous intensification of damaged muscles, the enhancement inside the muscles was decreased when compared with normal muscles. The locations of all these abnormal intensity were correlated with the injury history and clinic physical examinations. MRA showed no lower extremity vessels were affected. Conclusion: MRI has very high sensitivity in detecting the injury of muscles. It's very useful in evaluating the extent and severity of muscles affected in rhabdomyolysis caused by trauma. Also it's very valuable to evaluate the condition of blood vessels in involved extremity

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.

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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.

Myelomatous ascites as an initial manifestation of extramedullary involvement of multiple myeloma

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Choi, Seo Youn; Lee, Hae Kyung; Yi, Boem Ha; Lee, Min Hee; Kim, Hee Kyung; Park, Seong Kyu [Soonchunhyang University Bucheon Hospital, Bucheon (Korea, Republic of)

2017-03-15

Multiple myeloma is a common hematological malignancy. Aggressive myeloma invades the organs outside the bone marrow, lymph, or reticuloendothelial systems. Among the extramedullary involvements of multiple myeloma, myelomatous ascites are extremely rare and are associated with a poor prognosis. We describe a case of myelomatous ascites as an initial manifestation of extramedullary involvement of multiple myeloma in 39-year-old patient. The patient was treated with high-dose chemotherapy, but extensive extramedullary involvement progressed, and the patient expired approximately five months after the initial detection of ascites.

Polycythemia as rare secondary direct manifestation of acromegaly: management and single-centre epidemiological data.

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Zoppoli, Gabriele; Bianchi, Federico; Bruzzone, Andrea; Calvia, Alessandro; Oneto, Caterina; Passalia, Caterina; Balleari, Enrico; Bedognetti, Davide; Ponomareva, Elena; Nazzari, Elena; Castelletti, Lara; Castellan, Lucio; Minuto, Francesco; Ghio, Riccardo; Ferone, Diego

2012-06-01

Polycythemia associated with acromegaly is usually caused by the systemic manifestations of the disease, such as sleep-apnea or concomitant erythropoietin-secreting kidney tumors. The recognition of underlying pathologies requires a thorough diagnostic process. We report a unique case of acromegaly with polycythemia, not caused by commonly described manifestations of the disease, and receding with octreotide therapy. The medical history of 141 acromegalic patients followed by the Endocrinology Unit of the San Martino University Hospital in Genoa has been also reviewed, together with the literature evidence for similar cases. The diagnostic workflow and 2-years follow-up of a 43-years old acromegalic, polycythemic man with a history of past smoking, moderate hypertension, and mental retardation are described. The hematological parameters of our cohort was retrospectively compared with those of a healthy, age/gender-related control group as well. Therapy with octreotide LAR, 20 mg i.m. q28d was begun soon after diagnosis of acromegaly in the polycythemic patient. Haematocrit level, hormonal setting, as well as pituitary tumor size and visual perimetry during treatment were recorded. Octreotide LAR treatment normalized hormonal alterations, as well as hematological parameters. Polycythemia has not recurred after 2 years of therapy. The median hemoglobin and hematocrit levels of the retrospectively analyzed cohort of acromegalic were significantly lower than normal ranges of a healthy, age/sex- related control population. In conclusions, polycythemia can be a direct, albeit rare, secondary manifestation of acromegaly, that must be considered during the diagnostic work-up of acromegalic patients presenting with such disorder.

Progeria in siblings: A rare case report

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R Sowmiya

2011-01-01

Full Text Available Progeria, also known as Hutchinson-Gilford syndrome, is an extremely rare, severe genetic condition wherein symptoms resembling aspects of aging are manifested at an early age. It is an autosomal dominant disorder. It is not seen in siblings of affected children although there are very few case reports of progeria affecting more than one child in a family. Here we are presenting two siblings, a 14-year-old male and a 13-year-old female with features of progeria, suggesting a possible autosomal recessive inheritance.

Splenic infarcts as a rare manifestation of parvovirus B19 infection.

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Kranidiotis, Georgios; Efstratiadis, Efrosini; Kapsalakis, Georgios; Loizos, Georgios; Bilis, Apostolos; Melidonis, Andreas

2016-01-01

Human parvovirus B19 is a DNA virus most known for causing erythema infectiosum in children, and polyarthropathy or transient aplastic crisis in adults. However, various unusual clinical manifestations have also been reported in association with it. We describe a young patient who presented with splenic infarcts as a rare complication of B19 infection. A 33-year old previously healthy man was admitted to our hospital because of a 5-day history of fever and headache. Imaging studies revaled two splenic infarcts. Endocarditis was ruled out, whereas serologic testing for B19 was indicative of acute infection. To our knowledge, three cases of thromboembolism in the setting of B19 infection have been reported up to now, including one occurence of splenic infarction. These events were attributed to the development of a transient antiphospholipid antibody syndrome. In contrast, our patient did not have elevated titers of antiphospholipid antibodies. Splenic infarcts can be an atypical presentation of B19 infection. Parvovirus B19 may induce thromboembolic events, even in the absence of antiphospholipid antibodies.

Hydroa vacciniforme-like lymphoma with primarily periorbital swelling: 7 cases of an atypical clinical manifestation of this rare cutaneous T-cell lymphoma.

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Plaza, Jose A; Sangueza, Martin

2015-01-01

Hydroa vacciniforme-like lymphoma (HVL) is a rare cutaneous T-cell lymphoma that is usually seen in children of Hispanic or Asian origin. Association between chronic latent Epstein-Barr virus infection in both hydroa vacciniforme (HV) and HVL has been demonstrated and has recently been categorized by the World Health Organization as one of the Epstein Barr virus-positive lymphoproliferative disorders of childhood. Patients with HVL present with a cutaneous rash characterized by edema, blisters, ulcers, and scars mainly seen on the face and extremities that mimic HV; however, unlike in HV, the lesions tend to be extensive and deeper and are associated with severe scarring, necrosis, and systemic manifestations. We are reporting 7 cases of an unusual clinical variant of HVL with primarily periorbital edema. All of our patients in this series presented with progressive periorbital edema that was accompanied with systemic symptoms including fever, malaise, and lymphadenopathy. Most cases were initially misinterpreted as inflammatory processes including cellulitis, arthropod bite reactions, and periorbital lupus erythematosus. The biopsy of these lesions revealed an atypical lymphocytic infiltrate predominantly distributed in the deep dermis and in subcutaneous fat. Immunohistochemistry studies revealed a cytotoxic T-cell (CD8) profile. All cases were associated with Epstein-Barr virus infection. Our study presents a rare clinical variant of HVL with predominant periorbital edema. This variant could potentially be overlooked and misdiagnosed as an inflammatory condition; thus, it needs to be included in the differential diagnosis of periorbital edema in young patients.

The phenotypic manifestations of rare genic CNVs in autism spectrum disorder.

Science.gov (United States)

Merikangas, A K; Segurado, R; Heron, E A; Anney, R J L; Paterson, A D; Cook, E H; Pinto, D; Scherer, S W; Szatmari, P; Gill, M; Corvin, A P; Gallagher, L

2015-11-01

Significant evidence exists for the association between copy number variants (CNVs) and Autism Spectrum Disorder (ASD); however, most of this work has focused solely on the diagnosis of ASD. There is limited understanding of the impact of CNVs on the 'sub-phenotypes' of ASD. The objective of this paper is to evaluate associations between CNVs in differentially brain expressed (DBE) genes or genes previously implicated in ASD/intellectual disability (ASD/ID) and specific sub-phenotypes of ASD. The sample consisted of 1590 cases of European ancestry from the Autism Genome Project (AGP) with a diagnosis of an ASD and at least one rare CNV impacting any gene and a core set of phenotypic measures, including symptom severity, language impairments, seizures, gait disturbances, intelligence quotient (IQ) and adaptive function, as well as paternal and maternal age. Classification analyses using a non-parametric recursive partitioning method (random forests) were employed to define sets of phenotypic characteristics that best classify the CNV-defined groups. There was substantial variation in the classification accuracy of the two sets of genes. The best variables for classification were verbal IQ for the ASD/ID genes, paternal age at birth for the DBE genes and adaptive function for de novo CNVs. CNVs in the ASD/ID list were primarily associated with communication and language domains, whereas CNVs in DBE genes were related to broader manifestations of adaptive function. To our knowledge, this is the first study to examine the associations between sub-phenotypes and CNVs genome-wide in ASD. This work highlights the importance of examining the diverse sub-phenotypic manifestations of CNVs in ASD, including the specific features, comorbid conditions and clinical correlates of ASD that comprise underlying characteristics of the disorder.

Simulation of the 23 July 2012 Extreme Space Weather Event: What if This Extremely Rare CME Was Earth Directed?

Science.gov (United States)

Ngwira, Chigomezyo M.; Pulkkinen, Antti; Mays, M. Leila; Kuznetsova, Maria M.; Galvin, A. B.; Simunac, Kristin; Baker, Daniel N.; Li, Xinlin; Zheng, Yihua; Glocer, Alex

2013-01-01

Extreme space weather events are known to cause adverse impacts on critical modern day technological infrastructure such as high-voltage electric power transmission grids. On 23 July 2012, NASA's Solar Terrestrial Relations Observatory-Ahead (STEREO-A) spacecraft observed in situ an extremely fast coronal mass ejection (CME) that traveled 0.96 astronomical units (approx. 1 AU) in about 19 h. Here we use the SpaceWeather Modeling Framework (SWMF) to perform a simulation of this rare CME.We consider STEREO-A in situ observations to represent the upstream L1 solar wind boundary conditions. The goal of this study is to examine what would have happened if this Rare-type CME was Earth-bound. Global SWMF-generated ground geomagnetic field perturbations are used to compute the simulated induced geoelectric field at specific ground-based active INTERMAGNET magnetometer sites. Simulation results show that while modeled global SYM-H index, a high-resolution equivalent of the Dst index, was comparable to previously observed severe geomagnetic storms such as the Halloween 2003 storm, the 23 July CME would have produced some of the largest geomagnetically induced electric fields, making it very geoeffective. These results have important practical applications for risk management of electrical power grids.

Visceroptosis of the Bowel in the Hypermobility type of Ehlers-Danlos Syndrome: Presentation of a Rare Manifestation and Review of the Literature

Science.gov (United States)

Reinstein, Eyal; Pimentel, Mark; Pariani, Mitchel; Nemec, Stephen; Sokol, Thomas; Rimoin, David L

2012-01-01

Gastrointestinal complications are common in patients with Ehlers-Danlos Syndrome, affecting up to 50% of individuals depending on the subtype. The spectrum of gastrointestinal manifestations is broad and ranges from life threatening spontaneous perforation of the visceral organs to a more benign functional symptoms. Here we describe the clinical and radiographic manifestations of visceroptosis of the bowel, a rare complication of Ehlers-Danlos Syndrome that is characterized by prolapse of abdominal organs below their natural position. We further review the literature on gastrointestinal complications in the different forms of Ehlers-Danlos Syndrome. PMID:22781752

Unusual Manifestation of Severe Conjugated Hyperbilirubinemia in an Infant with Streptococcus pneumoniae-associated Hemolytic Uremic Syndrome

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Jung-Pin Chen

2007-01-01

Full Text Available Streptococcus pneumoniae is an uncommon etiologic organism in children with hemolytic uremic syndrome (HUS. Historically, severe S. pneumoniae-associated HUS usually has a poor clinical outcome. The clinical manifestations of marked jaundice and hepatic dysfunction in this form of HUS are extremely rare. We report a 10-month-old female infant with S. pneumoniae-associated HUS who had the unusual manifestation of severely elevated conjugated bilirubin and hepatic transaminases. Screening for viral hepatitis was negative, and evidence of biliary obstruction and hepatotoxic drug exposure was also absent. The patient was treated with antihypertensive agents for 2.5 months and required peritoneal dialysis for a period of 26 days. Hepatic function returned to normal on the 8th day of hospitalization. Renal function was mildly impaired at 1-year follow-up. Our report suggests that severe conjugated hyperbilirubinemia is a rare manifestation of S. pneumoniae-associated HUS in children. It is important for pediatricians that pneumococcal infection with severe hematologic and renal disorders should be investigated for evidence of S. pneumoniae-associated HUS. [J Formos Med Assoc 2007;106(2 Suppl:S17-S22

An extremely rare neoplasm, histiocytic sarcoma: A report of two cases with an aggressive clinical course

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Erkan Kayikcioglu

2017-07-01

Conclusions: HS is an extremely rare malignant neoplasm of the monocytic/macrophage lineage, with no standardized chemotherapy regimen for multisystemic disease. Metastatic patients have a more aggressive clinical course than those with unifocal disease.

Using Extreme Phenotype Sampling to Identify the Rare Causal Variants of Quantitative Traits in Association Studies

OpenAIRE

Li, Dalin; Lewinger, Juan Pablo; Gauderman, William J.; Murcray, Cassandra Elizabeth; Conti, David

2011-01-01

Variants identified in recent genome-wide association studies based on the common-disease common-variant hypothesis are far from fully explaining the hereditability of complex traits. Rare variants may, in part, explain some of the missing hereditability. Here, we explored the advantage of the extreme phenotype sampling in rare-variant analysis and refined this design framework for future large-scale association studies on quantitative traits. We first proposed a power calculation approach fo...

Propylthiouracil induced leukocytoclastic vasculitis: A rare manifestation

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Semra Ayturk

2013-01-01

Full Text Available Propylthiouracil (PTU is a common drug used in patients with hyperthyroidism. It may cause perinuclearantineutrophil cytoplasmic antibodies (p-ANCA in few patients with Graves′ disease. This antibody has been associated with different forms of vasculitis. We report a patient who presented with cutaneous manifestations of leukocytoclasticvasculitis with simultaneous development of p-ANCAs during PTU therapy for Graves′ disease.

An Extremely Rare Case of Advanced Metastatic Small Cell Neuroendocrine Carcinoma of Sinonasal Tract

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Yu Yu Thar

2016-01-01

Full Text Available Small cell neuroendocrine carcinoma (SNEC is a rare form of malignancy. It mainly presents as bronchogenic neoplasm, and the extrapulmonary form accounts for only 0.1% to 0.4% of all cancers. These extrapulmonary tumors have been described most frequently in the urinary bladder, prostate, esophagus, stomach, colon and rectum, gall bladder, head and neck, cervix, and skin. Primary SNEC of the sinonasal tract is extremely rare with only less than 100 cases reported in the literature. Because of extreme rarity and aggressiveness of the tumor, the management for this entity varies considerably mandating multimodality approach. In this paper, we report a patient presented with left-sided facial swelling, and the histopathologic examination confirmed primary SNEC of left sinonasal tract. The tumor involved multiple paranasal sinuses with invasion into the left orbit and left infratemporal fossa and metastasized to cervical lymph nodes and bone. The patient encountered devastating outcome in spite of optimal medical management and treatment with palliative chemotherapy highlighting the necessity for further research of primary SNEC of head and neck.

Sclerodermatomyositis, ocular manifestations.

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Pedroza-Seres, M; Serna-Ojeda, J C; Flores-Suárez, L F

2017-07-01

Sclerodermatomyositis is an overlap syndrome of myositis and scleroderma, with dermatological, muscular and joint involvement, but may also present with ocular manifestations. A 57 year-old woman presented with ophthalmological manifestations, including scleral thinning 360°, and the presence of cells in the anterior and posterior chamber. Oriented physical examination and laboratory studies led to the diagnosis, with the need for systemic treatment. Sclerodermatomyositis is a rare disease. Its diagnosis needs thorough clinical and laboratory studies, and its management should be multidisciplinary when inflammatory ocular manifestations may be present. Copyright © 2016 Sociedad Española de Oftalmología. Publicado por Elsevier España, S.L.U. All rights reserved.

Hematologic manifestations of Crohn's disease: two clinical cases

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O. V. Taratina

2017-01-01

Full Text Available Inflammatory bowel diseases (IBD are commonly associated with extraintestinal manifestations, hematological disorders being the most special among them. In some cases, they dominate the clinical picture masking the intestinal manifestations of the underlying disease. Aplastic anemia is an extremely rare extraintestinal IBD manifestation. There are only two clinical cases of aplastic anemia associated with ulcerative colitis and non with Crohn's disease reported in the literature. Combination of Crohn's disease and В₁₂-deficient anemia is more prevalent, but is seen usually only after more than 20 cm of the ileus has been resected. The first clinical case presented in this paper is a  combination of severe fistula-forming Crohn's disease with a constriction in the terminal part of the ileus and profound pancytopenia as an outcome of aplastic anemia. This profound pancytopenia is associated with an extremely high risk of life-threatening complications both of surgical treatment, as well as of several chemotherapeutic agents, which made the management of this patient difficult. The second clinical case demonstrates the manifestation of Crohn's disease as ileocolitis starting from the symptoms of cobalamin deficiency: severe В₁₂-deficient anemia, funicular myelosis and sensory ataxia, with blunted intestinal symptoms. This made the initial diagnosis and timely treatment difficult. Replacement therapy with cobalamin injections and treatment with glucocorticoids and antibacterials led to endoscopically confirmed remission of Crohn's disease and normalization of hematological parameters, with persistent polyneuropathy. Thus, management of patients with Crohn's disease should be multidisciplinary. In the case of anemia, leucopenia and/or thrombocytopenia in IBD patients it is necessary to exclude potential myelodysplasia and bone marrow aplasia. In the event of megaloblastic anemia and/or progressive polyneuropathy one should bear in mind

Hepatic angiosarcoma manifested as recurrent hemoperitoneum

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Lee, Seung-Woo; Song, Chun-Young; Gi, Young-Hwa; Kang, Sang-Beom; Kim, Yon-Soo; Nam, Soon-Woo; Lee, Dong-Soo; Kim, Jong-Ok

2008-01-01

Angiosarcoma is a rare tumor that account for less than 1% of all sarcomas. Although hepatic angiosarcoma usually presents with unspecific symptoms, it rapidly progresses and has a high mortality. We report a rare case of primary hepatic angiosarcoma manifested as recurrent hemoperitoneum. PMID:18473427

Extraosseous manifestation of Gaucher's disease type I: MR and histological appearance

International Nuclear Information System (INIS)

Poll, L.W.; Koch, J.A.; Moedder, U.

2000-01-01

Gaucher's disease type I is the most prevalent lysosomal storage disorder caused by an autosomal-recessive inherited deficiency of glucocerebrosidase activity with secondary accumulation of glucocerebrosides within the lysosomes of macrophages. The storage disorder produces a multisystem disease characterized by progressive visceral enlargement and gradual replacement of bone marrow with lipid-laden macrophages. Skeletal disease is a major source of disability in Gaucher's disease. Extraosseous extension of Gaucher cells is an extremely rare manifestation of skeletal Gaucher's disease. This is a report on the MRI and histopathological findings of an extraosseous Gaucher-cell extension into the midface in a patient with Gaucher's disease. (orig.)

Radiologic manifestations of degenerative-dystrophic lesion of false joints of the limbs

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Novikov, V.P.

1980-01-01

There have been examined 752 patients with false joints and defects of articular ends of the long tubular bones. Various forms of degenerative-dystrophic lesion of the false joints and neoarthrosis which developed after resection of the articular end, as well as of other sections of bones and joints preconditioned by the long-term overload, have been studied in that group. Degenerative-dystrophic damage has been established to be one of the main causes of secondary sub-and decompensation that manifests by cystic transformation, aseptic necrosis and, in extremely rare cases, deforming arthrosis of the former lesion area. Similar alterations in the adjacent and distant overloaded sections of bones and joints are also thought to belong to causative factors. The importance of the timely multiple X-ray examination has been shown, particularly in detecting early manifestations of degenerative-dystrophic lesion in clinical and preclinical phases

Perianal Ulcer and Diabetes Insipidus: A Rare Presentation of Langerhans Cell Histiocytosis in an Adult Male

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Ng Chong Beng

2017-07-01

Full Text Available Langerhans cell histiocytosis (LCH, previously known as Histiocystosis X, is a rare idiopathic disease caused by a build-up of langerhan cells in the body. LCH has a heterogenous form of clinical presentation and presents with varying degree of severity. The severity often depends on the disease burden. LCH can manifest as a unifocal disease, multifocal-unisystem or multifocal-multisystem disease with the latter being more fatal than the rest. Risk organ involvement confers a grim prognosis. Perianal lesions are extremely rare skin manifestation of LCH with only few cases reported in the past. Vinca-alkaloids and steroid therapy have been shown to be effective in a large percentage of those presenting with LCH. This case report highlights the diagnosis and management of LCH presenting as a painful perianal ulcer in the background of newly diagnosed diabetes insipidus.

Modeling, Forecasting and Mitigating Extreme Earthquakes

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Ismail-Zadeh, A.; Le Mouel, J.; Soloviev, A.

2012-12-01

Recent earthquake disasters highlighted the importance of multi- and trans-disciplinary studies of earthquake risk. A major component of earthquake disaster risk analysis is hazards research, which should cover not only a traditional assessment of ground shaking, but also studies of geodetic, paleoseismic, geomagnetic, hydrological, deep drilling and other geophysical and geological observations together with comprehensive modeling of earthquakes and forecasting extreme events. Extreme earthquakes (large magnitude and rare events) are manifestations of complex behavior of the lithosphere structured as a hierarchical system of blocks of different sizes. Understanding of physics and dynamics of the extreme events comes from observations, measurements and modeling. A quantitative approach to simulate earthquakes in models of fault dynamics will be presented. The models reproduce basic features of the observed seismicity (e.g., the frequency-magnitude relationship, clustering of earthquakes, occurrence of extreme seismic events). They provide a link between geodynamic processes and seismicity, allow studying extreme events, influence of fault network properties on seismic patterns and seismic cycles, and assist, in a broader sense, in earthquake forecast modeling. Some aspects of predictability of large earthquakes (how well can large earthquakes be predicted today?) will be also discussed along with possibilities in mitigation of earthquake disasters (e.g., on 'inverse' forensic investigations of earthquake disasters).

An expanded dengue syndrome patient with manifestation myocarditis: case report

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Arifijanto, M. V.; Luqmana, H. P.; Rusli, M.; Bramantono

2018-03-01

Dengue infection may manifest asymptomatic, dengue fever, dengue hemorrhagic fever, dengue shock syndrome. However, atypical manifestations in other organs have been increasingly reported and called expanded dengue syndrome. One of the cardiac complications in dengue is myocarditis. An 18-year-old woman complains of high fever since 3 days, epistaxis, chest pain, dyspnea, and vomiting. Laboratory examination obtained thrombocytopenia, hemoconcentration, NS1, IgG-IgM dengue positive, CKMB and Troponin- I increase. Electrocardiogram result ischemic anterior-posterior. Echocardiography results hyperechogenic on myocardial suspicious a myocarditis. The patient was diagnosed with acute myocarditis and dengue hemorrhagic fever. Condition improved after five days of treatment. Cardiac complications in dengue are now increasingly observed with the most common case is myocarditis. The main mechanism of dengue myocarditis is still unknown though both direct viral infection and immune mediated damage have been suggested to be the cause of myocardial damage. The low incidence of dengue myocarditis is because it’s asymptomatic and diagnosis is easily missed. Almost all cases of dengue myocarditis are self-limiting and severe myocarditis leading to dilated cardiomyopathy is extremely rare. There have been reported a patient with dengue hemorrhagic fever with manifestation myocarditis. Condition improve with supportive management.

A genome-wide study reveals rare CNVs exclusive to extreme phenotypes of Alzheimer disease.

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Rovelet-Lecrux, Anne; Legallic, Solenn; Wallon, David; Flaman, Jean-Michel; Martinaud, Olivier; Bombois, Stéphanie; Rollin-Sillaire, Adeline; Michon, Agnès; Le Ber, Isabelle; Pariente, Jérémie; Puel, Michèle; Paquet, Claire; Croisile, Bernard; Thomas-Antérion, Catherine; Vercelletto, Martine; Lévy, Richard; Frébourg, Thierry; Hannequin, Didier; Campion, Dominique

2012-06-01

Studying rare extreme forms of Alzheimer disease (AD) may prove to be a useful strategy in identifying new genes involved in monogenic determinism of AD. Amyloid precursor protein (APP), PSEN1, and PSEN2 mutations account for only 85% of autosomal dominant early-onset AD (ADEOAD) families. We hypothesised that rare copy number variants (CNVs) could be involved in ADEOAD families without mutations in known genes, as well as in rare sporadic young-onset AD cases. Using high-resolution array comparative genomic hybridisation, we assessed the presence of rare CNVs in 21 unrelated ADEOAD cases, having no alteration on known genes, and 12 sporadic AD cases, with an age of onset younger than 55 years. The analysis revealed the presence of 7 singleton CNVs (4 in ADEOAD and 3 in sporadic cases) absent in 1078 controls and 912 late-onset AD cases. Strikingly, 4 out of 7 rearrangements target genes (KLK6, SLC30A3, MEOX2, and FPR2) encoding proteins that are tightly related to amyloid-β peptide metabolism or signalling. Although these variants are individually rare and restricted to particular subgroups of patients, these findings support the causal role, in human pathology, of a set of genes coding for molecules suspected for a long time to modify Aβ metabolism or signalling, and for which animal or cellular models have already been developed.

Malignant Hidradenocarcinoma in the Lower Extremity: A Case Report of a Rare Tumor.

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Kane, Brendan; Adler, Evan; Bhandari, Tarun; Rose, Michael; DiGuglielmo, Nicola; Sun, Xiu

Malignant hidradenocarcinomas are rare soft tissue tumors of sweat gland origin. We present the case of a soft tissue, fungating tumor of 15 years' duration of the medial ankle in an 85-year-old male that exhibited malignant features clinically and radiographically. Subsequent punch biopsy revealed a diagnosis of malignant hidradenocarcinoma. Given the risk of recurrence and the poor radiation and chemotherapy options, the patient initially decided to leave the lesion untreated. However, he soon developed lower extremity cellulitis from the exposed lesion and decided to have the tumor excised, eliminating the source of the infection. In the present case study, we discuss the etiology, clinical and radiographic characteristics, and treatment options for this rare lesion. At the 18-month follow-up visit, he had had no recurrence of the lesion. Copyright © 2017 The American College of Foot and Ankle Surgeons. Published by Elsevier Inc. All rights reserved.

Silent internal sinus of the pyriform fossa: a rare adult manifestation of a branchial anomaly.

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Lin, Chao-Jung; Lin, Yaoh-Shiang; Kang, Bor-Hwang; Lee, Jin-Chin

2003-03-01

Branchial anomalies present with a wide range of pathologic characteristics, including cysts, fistulas, and sinuses of the head and neck region. Branchial cysts are most commonly diagnosed during the second through fourth decades of life, while branchial sinuses and fistulas are diagnosed almost exclusively in children with infection episodes. Only rarely has an internal sinus of a third or fourth branchial anomaly manifested in adults as a noninfectious swelling in the neck during swallowing. In this report, we describe our experience treating a 21-year-old man with a left-sided swallowing-induced neck protrusion of 10 years' duration. Findings of physical examination, videolaryngoscopy, and a pharyngoesophagogram confirmed the diagnosis of internal sinus of the pyriform fossa, with uncertain origin of a third or fourth branchial anomaly. The patient underwent regular follow-up as an outpatient and experienced no further infectious episodes.

Radiologic manifestations in the musculoskeletal system of miscellaneous endocrine disorders.

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Chew, F S

1991-01-01

The manifestations of endocrine derangements in the musculoskeletal system in infancy and childhood are disturbances in growth and maturation and in adulthood are disturbances in maintenance and metabolism. Hypercortisolism during skeletal immaturity suppresses growth. In the adult, hypercortisolism leads to osteoporosis, osteonecrosis, and muscle wasting. Deficiency of growth hormone during skeletal development results in short stature. An excess of growth hormone in a skeletally immature individual results in gigantism, an excess in a skeletally mature individual results in acromegaly. Patients with gigantism have extreme height with normal body proportions. Musculoskeletal manifestations of acromegaly include soft-tissue thickening, vertebral body enlargement, characteristic hand and foot changes, and enthesal bony proliferation. Hyperthyroidism causes catabolism of protein and loss of connective tissue, which manifest as muscle wasting. Deficient levels of thyroid hormone cause defects in growth and development. Severe growth retardation from congenital hypothyroidism is rare because neonatal screening recognizes the disorder and leads to early treatment. The skeletal manifestation of hypergonadism in children is precocious growth and early skeletal maturation. Although the initial precocious growth spurt results in a tall child, early closure of the growth plates results in a short adult. Hypogonadism in the prepubertal child results in delayed adolescence and delayed skeletal maturation. Diabetes mellitus in childhood results in decreased growth, a phenomenon presumed to be secondary to nutritional abnormalities. Generalized osteoporosis and short stature are common. In the adult, generalized osteoporosis may accompany insulin-dependent diabetes mellitus if obesity is absent. Calcification of interdigital arteries of the foot is common in diabetics and uncommon in other conditions. Additional skeletal manifestations relate to complications of diabetes such as

Placenta Increta after First-Trimester Dilatation and Curettage Manifesting as an Unusual Uterine Mass: Magnetic Resonance Findings

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Ju, W.; Kim, S.C. [Dept. of Obstetrics and Gynecology, and Medical Research Inst., School of Medicine, Ewha Womens Univ., Seoul (Korea)

2007-10-15

Placenta increta during the first trimester of pregnancy is extremely rare. Only a few cases of placenta accreta during the latter half of pregnancy manifesting as a uterine mass have been published. This report describes a case of placenta increta that caused prolonged bleeding after a first-trimester abortion, and was identified by magnetic resonance imaging (MRI) as a heterogeneous mass in the myometrium. This is the first report of a placenta increta detected as a uterine mass after first-trimester dilatation and curettage, and its MRI findings.

Cutaneous manifestations of primary immunodeficiency

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Safa Abdelhakim

2017-01-01

Full Text Available Primary immunodeficiency diseases (PIDs are a group of rare, chronic disorders with deficient or malfunctioning immune system. It commonly affects the hematopoietic system, with skin the second most affected organ. Skin involvement is observed in half of pediatric PID cases and often precedes the final diagnosis. Skin infections and eczemas are the two most common manifestations in PID.[1] Skin manifestations associated with PIDs can be of infectious and noninfectious causes. Common noninfectious causes are eczema, erythroderma, cutaneous granulomas, dysplasia, vasculitis, and telangiectasia. It is important to be aware of skin manifestations in pediatric patients as early detection of PID may aid in the management of serious immunologic conditions and prevent associated morbidity and mortality.

A rare case of 46,XX gonadal dysgenesis and Mayer-Rokitansky-Kuster-Hauser syndrome.

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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.

Maxillary hyperplasia and hyperostosis cranialis: a rare manifestation of renal osteodystrohy in a patient with hyperparathyroidism secondary to chronic renal failure

International Nuclear Information System (INIS)

Bakathir, Abdulaziz A.; Margasahayam, Manjunath V.; Al-Ismaily, Mohammad I.

2008-01-01

This case report describes a 21-year-old female patient with a complex medical condition of end-stage chronic renal failure and secondary hyperparathyroidism presenting with a history of gradual enlargement of facial bones over a period of one year. The facial enlargement primarily involves the maxilla causing a bizarre facial and dental deformity. Based on the clinical, radiographic and laboratory investigations the facial deformity was confirmed as a rare manifestation of renal osteodystrophy presenting as maxillary hyperplasia and hyperostosis cranialis. (author)

Ovarian embryonal rhabdomyosarcoma is a rare manifestation of the DICER1 syndrome.

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de Kock, Leanne; Druker, Harriet; Weber, Evan; Hamel, Nancy; Traubici, Jeffrey; Malkin, David; Arseneau, Jocelyne; Stewart, Colin J R; Bouron-Dal Soglio, Dorothée; Priest, John R; Foulkes, William D

2015-06-01

Embryonal rhabdomyosarcoma (ERMS), a soft tissue sarcoma, is one of the most common pediatric cancers. Certain ERMSs are associated with the DICER1 syndrome, a tumor predisposition syndrome caused by germ-line DICER1 mutations. Characteristic somatic mutations have also been identified in DICER1-associated tumor types. These "hotspot" mutations affect the catalytic activity of the DICER1 ribonuclease IIIb domain. Primary ovarian ERMS (oERMS) is extremely rare. We present a case of a 6-year-old girl with an oERMS harboring 2 DICER1 mutations. The girl also exhibited other DICER1 phenotypes: cystic nephroma (CN) and multinodular goiter. Somatic investigations of the CN identified a hotspot DICER1 mutation different from that in the oERMS. Significantly, the CN presented at 12 years of age, which is much older than the previously reported age range of susceptibility. This report documents the occurrence of DICER1 mutations in a case of oERMS, expanding the spectrum of DICER1-associated tumors. Copyright © 2015 Elsevier Inc. All rights reserved.

Amyotrophic Lateral Sclerosis Presenting Respiratory Failure as the Sole Initial Manifestation

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Fuyuki Tateno

2014-08-01

Full Text Available It is rare that amyotrophic lateral sclerosis (ALS presents with respiratory failure as the sole initial manifestation. A 72-year-old man with mild chronic obstructive pulmonary disease developed exertional dyspnea for 13 months. He then progressed to limb weakness that led to the diagnosis of ALS. Although rare, ALS can present with respiratory failure as the sole initial manifestation more than 1 year prior to limb weakness.

Isolated Juvenile Xanthogranuloma in Thoracic Spine: Intraoperative Cytological Diagnosis of a Rare Presentation

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Shashi Singhvi

2014-06-01

Full Text Available Juvenile Xanthogranulomas (JXG are benign proliferative disorders of non-Langerhans histiocytes, which present in children as multiple, self-limited, cutaneous lesions. The extracutaneous manifestations of JXG are uncommon, and isolated JXG involving the spinal column is extremely rare. We report here a case of isolated juvenile xanthogranuloma in thoracic spine correctly diagnosed intraoperatively on crush smear cytology and later confirmed by histopathological and immunohistochemical studies. This case report draws attention to the fact that isolated xanthogranuloma should be considered among possible diagnoses of spinal tumor in children. Also, since the long term survival depends on complete surgical resection, a correct intraoperative diagnosis is extremely important for optimal management and prognosis of the patient. [J Interdiscipl Histopathol 2014; 2(3.000: 158-162

Neuroblastoma in early childhood: A rare case report and review of literature

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Ritesh R Kalaskar

2016-01-01

Full Text Available Neuroblastoma is an extremely rare pediatric neoplasm whose prognosis becomes poor and poor as the age advances. It can be sporadic or nonfamilial in origin. It is primarily a tumor of abdominal origin from where it metastasis to lymph nodes, liver, intracranial and orbital sites, and central nervous system. There is no standard dental treatment protocol for the management of neuroblastoma due to its poor survival rate and rarity. However, dental treatment may follow the protocol of preventive and restorative. Surgicals should be performed under supervision as it may trigger metastasis. We report a rare case of neuroblastoma in a 3-year-old child presenting classical oral manifestations such as bilateral palatal swelling, rolled border ulcer on the posterior part of hard palate adjacent to primary molars, and bilateral proptosis.

The phenotypic manifestations of rare CNVs in schizophrenia.

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Merikangas, Alison K; Segurado, Ricardo; Cormican, Paul; Heron, Elizabeth A; Anney, Richard J L; Moore, Susan; Kelleher, Eric; Hargreaves, April; Anderson-Schmidt, Heike; Gill, Michael; Gallagher, Louise; Corvin, Aiden

2014-09-01

There is compelling evidence for the role of copy number variants (CNVs) in schizophrenia susceptibility, and it has been estimated that up to 2-3% of schizophrenia cases may carry rare CNVs. Despite evidence that these events are associated with an increased risk across categorical neurodevelopmental disorders, there is limited understanding of the impact of CNVs on the core features of disorders like schizophrenia. Our objective was to evaluate associations between rare CNVs in differentially brain expressed (BE) genes and the core features and clinical correlates of schizophrenia. The sample included 386 cases of Irish ancestry with a diagnosis of schizophrenia, at least one rare CNV impacting any gene, and a core set of phenotypic measures. Statistically significant associations between deletions in differentially BE genes were found for family history of mental illness (decreased prevalence of all CNVs and deletions, unadjusted and adjusted) and for paternal age (increase in deletions only, unadjusted, among those with later ages at birth of patient). The strong effect of a lack of a family history on BE genes suggests that CNVs may comprise one pathway to schizophrenia, whereas a positive family history could index other genetic mechanisms that increase schizophrenia vulnerability. To our knowledge, this is the first investigation of the association between genome-wide CNVs and risk factors and sub-phenotypic features of schizophrenia beyond cognitive function. Copyright © 2014 Elsevier B.V. All rights reserved.

A rare radiological manifestation of disseminated tuberculous spondylitisin acquired immune deficiency syndrome patient: A case report

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Kim, Sung Won; Koo, Joon Bum; Kim, Tae Eun [Dept. of of Radiology, Dongguk University Ilsan Hospital, Dongguk University School of Medicine, Goyang (Korea, Republic of)

2016-04-15

The spine is the most common site of skeletal involvement in tuberculosis. The radiologic features are reportedly characterized by destruction of the vertebral body, subligamentous extension or subchondral penetration, frequent paravertebral abscess formation and late involvement of the disk space. We experienced a case of a 25-year-old male who was a human immunodeficiency virus carrier without antiretroviral therapy. Incidental findings on abdominal computed tomography included multiple well-demarcated and ovoid osteolytic lesions with hyperdense rims disseminated in the thoracic, lumbar, and sacrum vertebrae, as well as in both ilii. On the lumbar spine magnetic resonance imaging, multiple small round lesions of isointense signal intensity with peripheral hyperintense rims were found on both T1- and T2-weighted imaging. The lesions had peripheral rim enhancement on gadolinium-enhanced T1-weighted imaging. Based on our experience, this rare image finding is one of the manifestations of disseminated tuberculosis.

Mandelbrot's Extremism

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Beirlant, J.; Schoutens, W.; Segers, J.J.J.

2004-01-01

In the sixties Mandelbrot already showed that extreme price swings are more likely than some of us think or incorporate in our models.A modern toolbox for analyzing such rare events can be found in the field of extreme value theory.At the core of extreme value theory lies the modelling of maxima

[Myelophthisis and kasabach merrit syndrome as initial manifestation of splenic angiosarcoma].

Science.gov (United States)

Serra, Jeremias Tomas; Orozco, Maira J; Prato, Franco J; Sánchez, Victoria; Basqueira, Ana J; Brocca, Carlos A

2016-01-01

Primary splenic angiosarcoma is an extremely agressive and rare neoplasm. Manifestations as bone marrow invasion and coagulation disorders have been reported isolatedly. A 26 years-old woman presented with abdominal pain; several anemia and thrombocytopenia associated to leukoerythroblastic reaction were found in the laboratory. Consumpion coagulopathy signs and microangiopathy as schistocytes, prolonged prothrombine time, decreased fibrinogen and increased D dimer were also present. Imaging findings included a lobulated, enlarged spleen, with spontanously hyperdense areas, and heterogeneous nodules with intense, irregular enhancement after contrast administration. There were hepatic and pulmonary metastases, as well as bone lesions with conspicuous vessels. Clinical features of Kasabach-Merrit syndrome and imaging vascular neoplasm characteristics suggest a primary splenic angiosarcoma. Splenectomy and bone marrow biopsy confirmed the diagnosis of primary splenic angiosarcoma in metastatic stage.

Neurological Manifestations In Inflammatory Bowel Disease

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youssef HNACH

2015-06-01

Full Text Available IntroductionThe purpose of this retrospective study was to report neurological manifestations noted in patients who were monitored for inflammatory bowel disease, in order to document the pathophysiological, clinical, progressive, and therapeutic characteristics of this entity.Material and methodsWe conducted a retrospective study on patients monitored -in the gastroenterology service in Ibn Sina Hospital in Rabat, Morocco- for inflammatory bowel disease from 1992 till 2013 and who developed neurological manifestations during its course. Patients with iatrogenic complications were excluded, as well as patients with cerebrovascular risk factors.ResultsThere were 6 patients, 4 of whom have developed peripheral manifestations. Electromyography enabled the diagnosis to be made and the outcome was favorable with disappearance of clinical manifestations and normalization of the electromyography.The other 2 patients, monitored for Crohn’s disease, developed ischemic stroke. Cerebral computed tomography angiography provided positive and topographic diagnosis. Two patients were admitted to specialized facilities.ConclusionNeurological manifestations in inflammatory bowel disease are rarely reported.  Peripheral neuropathies and stroke remain the most common manifestations. The mechanisms of these manifestations are not clearly defined yet. Currently, we hypothesize the interaction of immune mediators.

Carcinoma ex basal cell adenoma of the parotid gland: A report of an extremely rare case.

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Kusafuka, Kimihide; Kawasaki, Takuya; Nakajima, Takashi; Sugino, Takashi

2017-07-01

Malignant non-basaloid tumors that arise from basal cell adenoma (BCA) are extremely rare. The patient was a 72-year-old Japanese male, who had noticed swelling of the left parotid region 21 years ago. A superficial lobectomy was performed. About 60% of the tumor was made up of cribriform and trabecular tissue composed of basaloid cells, which exhibited mild atypia and nuclear expression of β-catenin. This portion of the tumor was considered to be a BCA. In the other part of the tumor, the proliferation of large eosinophilic atypical cells, most of which formed intraductal structures, was observed. These tumor cells displayed cellular atypia, and some of them formed Roman bridge structures or contributed to intracapsular invasion. Immunohistochemically, these cells were positive for cytokeratin 7, gross cystic disease fluid proten-15 (GCDFP-15), androgen receptor (AR), and mammaglobin (MMG) and exhibited a high Ki-67 labeling index. So, this portion of the tumor was considered to be a salivary duct carcinoma (SDC). The tumor's final diagnosis was SDC ex BCA (intracapsular type), which is extremely rare. GCDFP-15, AR, MMG, and Ki-67 are useful immunohistochemical markers for diagnosing SDC ex BCA. © 2017 The Authors. Pathology International Published by Japanese Society of Pathology and John Wiley & Sons Australia, Ltd.

Pulmonary manifestations of Sjögren's syndrome

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Thomas Flament

2016-06-01

Full Text Available In 9–20% of cases, Sjögren's syndrome is associated with various respiratory symptoms. The most typical manifestations are chronic interstitial lung disease (ILD and tracheobronchial disease. The most common manifestation of ILD is nonspecific interstitial pneumonia in its fibrosing variant. Other types of ILD, such as organising pneumonia, usual interstitial pneumonia and lymphocytic interstitial pneumonitis, are rare. Their radiological presentation is less distinctive, and definitive diagnosis may require the use of transbronchial or surgical lung biopsy. Corticosteroid therapy is the mainstay of ILD treatment in Sjögren's syndrome, but the use of other immunosuppressive drugs needs to be determined. ILD is a significant cause of death in Sjögren's syndrome. Tracheobronchial disease is common in Sjögren's syndrome, characterised by diffuse lymphocytic infiltration of the airway. It is sometimes responsible for a crippling chronic cough. It can also present in the form of bronchial hyperresponsiveness, bronchiectasis, bronchiolitis or recurrent respiratory infections. The management of these manifestations may require treatment for dryness and/or inflammation of the airways. Airway disease has little effect on respiratory function and is rarely the cause of death in Sjögren's syndrome patients. Rare respiratory complications such as amyloidosis, lymphoma or pulmonary hypertension should not be disregarded in Sjögren's syndrome patients.

An Extremely Rare and Unusual Case of Retroperitoneal and Pelvic Metastasis from Squamous Cell Carcinoma of Vallecula

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Abhishek Purkayastha

2016-06-01

Full Text Available We report an extremely rare and unusual case of retroperitoneal and pelvic metastasis from primary squamous cell carcinoma of vallecula. Generally carcinoma oropharynx metastasizes to lungs, liver and bone while retroperitoneal and pelvic metastasis is rarely heard of. To the best of our knowledge this case is one of the scantly reported cases ever of this kind in the world.  A 60-year-old male presented with dysphagia and hoarseness of voice of four month duration.  Computed tomography (CT scan face and neck showed growth right vallecula. Biopsy of lesion showed squamous cell carcinoma. Metastatic work up was negative. He received definitive chemo-radiation. Patient during follow up presented with dyspepsia, abdominal discomfort and weight loss. Whole body positron emission tomography (WB PET scan revealed retroperitoneal and pelvic lymph node deposits which were confirmed as metastasis of squamous cell carcinoma by CT guided fine needle aspiration cytology (FNAC. Patient was exhibited palliative chemotherapy but his general condition deteriorated and he finally succumbed to his metastatic illness. This case is being reported to highlight its extreme rarity, the diagnostic and therapeutic challenges it presented and its overall dismal prognosis.

Isolated Tenosynovitis as a Sole Manifestation: The Great Mimicker Still Continues to Surprise Us

Science.gov (United States)

De, Abhishek; Surana, Trupti V; Biswas, Saugato; Reja, Abu Hena Hasanoor; Chatterjee, Gobinda

2015-01-01

A middle aged male presented with non-tender cystic swelling over left distal forearm since 1 year. No other cutaneous abnormality could be found except mild paresthesia of the overlying skin and equivocal thickening of the ipsilateral ulnar nerve. Routine investigation was within normal limits. Detailed workup of the patient including MRI of the lesion suggested the diagnosis as tenosynovitis with a soft tissue mass. Fine needle aspiration cytology from the cyst showed foamy macrophages and acid fast bacilli; while PCR of the aspirate confirmed the etiological agent as M. leprae. We, thus, report a unique case of isolated tenosynovitis as a sole manifestation of pure neural leprosy which is extremely rare in world literature. PMID:25814736

A Rare Pontine Neuro-ophthalmic Syndrome: Eight-and-a-Half Syndrome

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Esra Eruyar

2017-06-01

Full Text Available One-and-a half syndrome is seen in paramedian pontine lesions, and may also co-exist with cranial nerve paralysis. This clinical situation is called eight-and-a-half syndrome when facial nerve paralysis also accompanies this manifestation. A man aged 38 years was admitted with symptoms of sudden-onset binocular diplopia and dizziness. The patient had no known co-morbidities. Cranial magnetic resonance imaging showed a small-sized infarct in the left paramedian pontine tegmentum posterior area. In his neuro-ophthalmologic examination, total paresis of left eye horizontal movements, mild lateral deviation, and monocular nystagmus during abduction of the right eye were observed. The patient also had peripheral facial paralysis on the left side; therefore, no signs of motor deficit of his extremities were examined. Eight-and-a-half syndrome is a rare disorder that is seen in localized-small pons lesions, mostly accompanied by infarcts. This clinical manifestation is called eight-and-a-half syndrome and arises within lesions in both the parapontine reticular formation and the medial longitudinal fasciculus in the inferior pons tegmentum where horizontal eye movements are controlled, and facial axons adjacent to the nucleus of the sixth nerve. We wanted to present this case to emphasize this rare situation

Ulerythema ophryogenes, a rarely reported cutaneous manifestation of noonan syndrome: case report and review of the literature.

Science.gov (United States)

Li, Kayi; Ann Thomas, Mary; Haber, Richard M

2013-01-01

Ulerythema ophryogenes (also known as keratosis pilaris atrophicans faciei) is a rarely reported cutaneous manifestation of Noonan syndrome. Recognizing ulerythema ophryogenes as a cutaneous association in Noonan syndrome may aid in the diagnosis of this relatively common genetic condition. We present a case of a patient with Noonan syndrome and ulerythema ophryogenes associated with a SOS1 mutation and review the literature on this association. To the best of our knowledge, this is the second case of Noonan syndrome proven to be due to an SOS1 mutation in which ulerythema ophryogenes was clinically recognized and specifically diagnosed. The presence of ulerythema ophryogenes in a patient with Noonan syndrome increases the likelihood of a SOS1 mutation. Further reports by dermatologists and medical geneticists documenting ulerythema ophryogenes and not just descriptions of sparse or absent eyebrows will help support this genotype-phenotype correlation.

Pulmonary arterial hypertension as a manifestation of lupus erythematosus

Energy Technology Data Exchange (ETDEWEB)

Stark, P; Sargent, E N; Boylen, T; Jaramillo, D

1987-08-01

We present five patients with systemic lupus erythematosus (SLE) who developed pulmonary arterial hypertension and cor pulmonale in the course of their disease. The clinical features, as well as, the radiological manifestations of this rare manifestation of SLE are discussed. A vasculitic process is the most likely cause of this complication. Therapy is ineffective and the prognosis is poor.

Higher order magnetic modulation structures in rare earth metal, alloys and compounds under extreme conditions

International Nuclear Information System (INIS)

Kawano, S.

2003-01-01

Magnetic materials consisting of rare earth ions form modulation structures such as a helical or sinusoidal structure caused by the oscillating magnetic interaction between rare earth ions due to RKKY magnetic interaction. These modulation structures, in some cases, develop further to higher order modulation structures by additional modulations caused by higher order crystalline electric field, magnetic interactions such as spin-lattice interaction, external magnetic field and pressure. The higher order modulation structures are observed in a spin-slip structure or a helifan structure in Ho, and a tilt helix structure in a TbEr alloy. Paramagnetic ions originated from frustration generate many magnetic phases under applied external magnetic field. KUR neutron diffraction groups have performed the development and adjustment of high-pressure instruments and external magnetic fields for neutron diffraction spectrometers. The studies of 'neutron diffraction under extreme conditions' by the seven groups are described in this report. (Y. Kazumata)

Cardiac tamponade as an initial manifestation of systemic lupus erythematosus.

Science.gov (United States)

Carrion, Diego M; Carrion, Andres F

2012-06-12

Clinical manifestations of pericardial disease may precede other signs and symptoms associated with systemic lupus erythematosus. Although pericardial effusion is one of the most common cardiac problems in patients with systemic lupus erythematosus, haemodynamically significant effusions manifesting as cardiac tamponade are rare and require prompt diagnosis and treatment.

Disabling pansclerotic morphea of childhood with extracutaneous manifestations

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Mahendra M Kura

2013-01-01

Full Text Available Disabling pansclerotic morphea (DPM of childhood is a rare generalized type of localized scleroderma (LS that is known to follow an aggressive course with pansclerotic lesions leading to severe joint contractures and consequent immobility. Mortality is due to complications of the disease such as bronchopneumonia, sepsis, or gangrene. There is no specific laboratory finding. Treatment protocols are still evolving for this severe recalcitrant disorder. Extracutaneous manifestations are rarely reported in DPM. We present the case of a 7-year-old girl with DPM with severe extracutaneous manifestations in the form of gastrointestinal and vascular disease, whose disease progressed rapidly. In spite of treatment with methotrexate, corticosteroids, and PUVA therapy, she ultimately succumbed to her illness due to sepsis.

Pulmonary arterial hypertension as a manifestation of lupus erythematosus

International Nuclear Information System (INIS)

Stark, P.; Jaramillo, D.

1987-01-01

We present five patients with systemic lupus erythematosus (SLE) who developed pulmonary arterial hypertension and cor pulmonale in the course of their disease. The clinical features, as well as, the radiological manifestations of this rare manifestation of SLE are discussed. A vasculitic process is the most likely cause of this complication. Therapy is ineffective and the prognosis is poor. (orig.) [de

Exome sequencing in schizophrenic patients with high levels of homozygosity identifies novel and extremely rare mutations in the GABA/glutamatergic pathways.

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Edoardo Giacopuzzi

Full Text Available Inbreeding is a known risk factor for recessive Mendelian diseases and previous studies have suggested that it could also play a role in complex disorders, such as psychiatric diseases. Recent inbreeding results in the presence of long runs of homozygosity (ROHs along the genome, which are also defined as autozygosity regions. Genetic variants in these regions have two alleles that are identical by descent, thus increasing the odds of bearing rare recessive deleterious mutations due to a homozygous state. A recent study showed a suggestive enrichment of long ROHs in schizophrenic patients, suggesting that recent inbreeding could play a role in the disease. To better understand the impact of autozygosity on schizophrenia risk, we selected, from a cohort of 180 Italian patients, seven subjects with extremely high numbers of large ROHs that were likely due to recent inbreeding and characterized the mutational landscape within their ROHs using Whole Exome Sequencing and, gene set enrichment analysis. We identified a significant overlap (17%; empirical p-value = 0.0171 between genes inside ROHs affected by low frequency functional homozygous variants (107 genes and the group of most promising candidate genes mutated in schizophrenia. Moreover, in four patients, we identified novel and extremely rare damaging mutations in the genes involved in neurodevelopment (MEGF8 and in GABA/glutamatergic synaptic transmission (GAD1, FMN1, ANO2. These results provide insights into the contribution of rare recessive mutations and inbreeding as risk factors for schizophrenia. ROHs that are likely due to recent inbreeding harbor a combination of predisposing low-frequency variants and extremely rare variants that have a high impact on pivotal biological pathways implicated in the disease. In addition, this study confirms that focusing on patients with high levels of homozygosity could be a useful prioritization strategy for discovering new high-impact mutations in

Exome sequencing in schizophrenic patients with high levels of homozygosity identifies novel and extremely rare mutations in the GABA/glutamatergic pathways.

Science.gov (United States)

Giacopuzzi, Edoardo; Gennarelli, Massimo; Minelli, Alessandra; Gardella, Rita; Valsecchi, Paolo; Traversa, Michele; Bonvicini, Cristian; Vita, Antonio; Sacchetti, Emilio; Magri, Chiara

2017-01-01

Inbreeding is a known risk factor for recessive Mendelian diseases and previous studies have suggested that it could also play a role in complex disorders, such as psychiatric diseases. Recent inbreeding results in the presence of long runs of homozygosity (ROHs) along the genome, which are also defined as autozygosity regions. Genetic variants in these regions have two alleles that are identical by descent, thus increasing the odds of bearing rare recessive deleterious mutations due to a homozygous state. A recent study showed a suggestive enrichment of long ROHs in schizophrenic patients, suggesting that recent inbreeding could play a role in the disease. To better understand the impact of autozygosity on schizophrenia risk, we selected, from a cohort of 180 Italian patients, seven subjects with extremely high numbers of large ROHs that were likely due to recent inbreeding and characterized the mutational landscape within their ROHs using Whole Exome Sequencing and, gene set enrichment analysis. We identified a significant overlap (17%; empirical p-value = 0.0171) between genes inside ROHs affected by low frequency functional homozygous variants (107 genes) and the group of most promising candidate genes mutated in schizophrenia. Moreover, in four patients, we identified novel and extremely rare damaging mutations in the genes involved in neurodevelopment (MEGF8) and in GABA/glutamatergic synaptic transmission (GAD1, FMN1, ANO2). These results provide insights into the contribution of rare recessive mutations and inbreeding as risk factors for schizophrenia. ROHs that are likely due to recent inbreeding harbor a combination of predisposing low-frequency variants and extremely rare variants that have a high impact on pivotal biological pathways implicated in the disease. In addition, this study confirms that focusing on patients with high levels of homozygosity could be a useful prioritization strategy for discovering new high-impact mutations in genetically

Ellis–Van Creveld syndrome in siblings: A rare case report

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Sabitha Gokulraj

2016-01-01

Full Text Available Ellis–Van Creveld syndrome or chondroectodermal dysplasia is a rare autosomal recessive disorder presenting several skeletal manifestations and congenital heart malformations. Ellis–Van Creveld syndrome comprises of a tetrad of clinical manifestations of chondrodysplasia, polydactyly, ectodermal dysplasia, and cardiac defects. Here, we are presenting a very rare case of Ellis–Van Creveld syndrome in siblings.

Arterial tortuosity syndrome: An extremely rare disease presenting as a mimic of pulmonary sling

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Amy Farkas, MD

2018-02-01

Full Text Available Pulmonary sling is the anatomic variant defined by the aberrant origin of the left pulmonary artery from the right pulmonary artery. This patient presented with a mimic of pulmonary sling as a result of an extremely rare condition, arterial tortuosity syndrome (ATS. The patient was first diagnosed with pulmonary sling on prenatal echocardiogram performed by cardiology. Computed tomography angiography of the chest obtained at birth to evaluate respiratory depression demonstrated ATS. The early detection of ATS has been demonstrated to improve patient outcome. This case provides an overview of the typical imaging features of ATS to aid radiologists in making this uncommon diagnosis.

C1q nephropathy and isolated CD59 deficiency manifesting as necrotizing crescentic glomerulonephritis: A rare association of two diseases

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Ruchika Gupta

2015-01-01

Full Text Available C1q nephropathy is a recently described clinico-pathologic entity with a variable clinical presentation and pathology. Crescentic glomerulonephritis (GN has been reported in only two patients in the available literature. CD59 deficiency, along with lack of CD55, is responsible for paroxysmal nocturnal hemoglobinuria (PNH. Few cases of isolated CD59 deficiency have been described with PNH-like features. A middle-aged adult male presented with rapidly progressive renal failure. Serological investigations were negative. A renal biopsy revealed necrotizing crescentic GN with rupture of Bowman′s capsule. Immunofluorescence on the frozen sections showed dominant mesangial deposits of C1q along with IgM. Hematological work-up of the patient revealed isolated CD59 deficiency. Hence, a final diagnosis of C1q nephropathy and CD59 deficiency manifesting as crescentic GN and hemolytic anemia was made. The co-existence of two rare disorders, C1q nephropathy and CD59 deficiency, in a patient with necrotizing crescentic GN is described for the first time to the best of our knowledge. The pathogenetic link of these two entities with the clinical manifestation requires further study.

Classification, diagnostic criteria, and treatment recommendations for orofacial manifestations in HIV-infected pediatric patients. Collaborative Workgroup on Oral Manifestations of Pediatric HIV Infection.

Science.gov (United States)

Ramos-Gomez, F J; Flaitz, C; Catapano, P; Murray, P; Milnes, A R; Dorenbaum, A

1999-01-01

The criteria for diagnosis of HIV-related oral lesions in adults are well established, but corresponding criteria in the pediatric population are not as well defined. The Collaborative Workgroup on the Oral Manifestations of Pediatric HIV infection reached a consensus, based upon available data, as to the presumptive and definitive criteria to diagnose the oral manifestations of HIV infection in children. Presumptive criteria refer to the clinical features of the lesions, including signs and symptoms, whereas definitive criteria require specific laboratory tests. In general, it is recommended that definitive criteria be established whenever possible. Orofacial manifestations have been divided into three groups: 1) those commonly associated with pediatric HIV infection; 2) those less commonly associated with pediatric HIV infection; and 3) those strongly associated with HIV infection but rare in children. Orofacial lesions commonly associated with pediatric HIV infection include candidiasis, herpes simplex infection, linear gingival erythema, parotid enlargement, and recurrent aphthous stomatitis. In contrast, orofacial lesions strongly associated with HIV infection but rare in children include Kaposi's sarcoma, non-Hodgkin's lymphoma, and oral hairy leukoplakia. Treatment recommendations, specific for this age group, have been included for some of the more common HIV-related orofacial manifestations.

Obturator internus pyomyositis manifested as sciatica in a patient with subacute bacterial endocarditis: A rare case report.

Science.gov (United States)

Hsu, Wei-Ching; Hsu, Jin-Yi; Chen, Michael Yu-Chih; Liang, Chung-Chao

2016-07-01

Pyomyositis is a pyogenic infection of the skeletal muscles causing myalgia and fever in patients. Hematogenous seeding engendered by persistent bacteremia and septic embolism is usually the underlying cause of the disease. Trauma, intravenous drug use, and immunodeficiency are the main predisposing factors.Obturator internus pyomyositis with sciatica has not previously been reported. We report a rare case of a patient with subacute bacterial endocarditis presenting with left buttock pain and sciatica.Computed tomography confirmed the diagnosis of obturator internus pyomyositis. The patient was discharged uneventfully after successful antibiotic treatment.The mortality rate of patients who have pyomyositis comorbid with another condition or disease is extremely high. Early diagnosis and aggressive management are imperative.

Diagnosis of Tubercular Brain Abscess Through Ocular Manifestation

African Journals Online (AJOL)

Dr. Smita Anand, Rajendra Institute of Medical Sciences, Ranchi, Jharkhand, India. ... visual acuity (BCVA) in right and left eyes were ... with ring enhancement in the left tempro‑parietal ... Tubercular brain abscess (TBA) is a rare manifestation.

Rare case of pancreatic cancer with leptomeningeal carcinomatosis

Science.gov (United States)

Yoo, In Kyung; Lee, Hong Sik; Kim, Chang Duk; Chun, Hoon Jai; Jeen, Yoon Tae; Keum, Bora; Kim, Eun Sun; Choi, Hyuk Soon; Lee, Jae Min; Kim, Seung Han; Nam, Seung Joo; Hyun, Jong Jin

2015-01-01

Leptomeningeal carcinomatosis occurs very rarely in patients with pancreatic cancer. Leptomeningeal carcinomatosis is characterized by multifocal seeding of the leptomeninges by malignant cells that originate from a solid tumor. To the best of our knowledge, brain metastasis from pancreatic cancer is extremely rare. Leptomeningeal carcinomatosis is estimated to occur in 3% to 8% of cases of solid tumors. The clinical manifestation usually involves neurological symptoms, including dizziness, headache, vomiting, nausea, and hemiparesis, symptoms similar to those of meningitis or brain tumors. Diagnostic methods for leptomeningeal carcinomatosis include brain magnetic resonance imaging and cerebrospinal fluid examination. Here, we describe a case of leptomeningeal carcinomatosis in which the primary tumor was later determined to be pancreatic cancer. Brain magnetic resonance imaging findings showed mild enhancement of the leptomeninges, and cerebrospinal fluid cytology was negative at first. However, after repeated spinal taps, atypical cells were observed on cerebrospinal fluid analysis and levels of tumor markers such as carbohydrate antigen 19-9 in cerebrospinal fluid were elevated. Abdominal computed tomography, performed to determine the presence of extracerebral tumors, revealed pancreatic cancer. Pancreatic cancer was confirmed histopathologically on examination of an endoscopic ultrasound-guided fine needle aspiration specimen. PMID:25624740

Arthrogryposis: A Rare Manifestation in Infant of Diabetic Mother

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Amar M. Taksande

2009-11-01

Full Text Available Arthrogryposis multiplex congenita is characterized by non-progressive, multiple joint contractures present at birth. The major cause of arthrogryposis is fetal akinesia due to fetal abnormalities like neurogenic, muscle, connective tissue abnormalities or maternal disorders Here we report a rare case of arthrogryposis in infant of diabetic mother with multiple congenital anomalies.

Manifestations of Gorlin-Goltz syndrome

DEFF Research Database (Denmark)

Larsen, Anne Kristine; Mikkelsen, Dorthe; Hertz, Jens Michael

2014-01-01

INTRODUCTION: Gorlin-Goltz syndrome is an uncommon hereditary condition caused by mutations in the PTCH1 gene causing a wide range of developmental abnormalities. Multiple basal cell carcinomas, palmoplantar pits and jaw cysts are cardinal features. Many clinicians are unfamiliar with the different...... manifestations and the fact that patients are especially sensitive to ionizing radiation. MATERIAL AND METHODS: This was a retrospective analysis of patients with Gorlin-Goltz syndrome seen at the Department of Dermatology and Allergy Centre or at Department of Plastic Surgery, Odense University Hospital...... families and none of these mutations had previously been described. CONCLUSION: The patient cohort illustrates classic and rare disease manifestations. It is necessary to remind clinicians that radiation therapy in Gorlin-Goltz syndrome is relatively contraindicated. Today, mutation analysis can be used...

Intrathoracic manifestations of Rosai-Dorfman disease.

Science.gov (United States)

Cartin-Ceba, Rodrigo; Golbin, Jason M; Yi, Eunhee S; Prakash, Udaya B S; Vassallo, Robert

2010-09-01

Rosai-Dorfman Disease (RDD), also known as Sinus Histiocytosis with Massive Lymphadenopathy (SHML), is a rare monocyte/macrophage proliferative disorder of varied biological behavior. Although cutaneous and lymph node involvement are relatively well-described, intrathoracic manifestations of RDD have only occasionally been reported. We conducted a retrospective computer-assisted search of the Mayo Clinic record from 1976 to 2005 for patients with histopathologic evidence of RDD on organ biopsy. Clinical characteristics were abstracted from charts and thoracic manifestations recorded. Survival was estimated using the national social security database. A total of 21 patients were diagnosed with RDD over a period of 30 years; 9 had intrathoracic manifestations (43%). Main pulmonary symptoms included dyspnea and cough. Age at the time of diagnosis, gender, race, smoking history, mortality and time of survival after diagnosis were no different between RDD patients with and without intrathoracic manifestations. The most common radiographic thoracic manifestation was mediastinal lymphadenopathy (6 patients). Cystic change, interstitial lung disease, and airway disease were radiographically evident in 4 patients. Seven patients were treated at some point in the course of their disease, most commonly with oral corticosteroids. At the time of last follow-up 87% were alive, with a median (IQR) time interval since diagnosis of 8 years (4-9.7). Intrathoracic manifestations of RDD are relatively common and include mediastinal lymphadenopathy, airway disease, pleural effusion, cystic and interstitial lung disease. Although limited in size, this series suggests the prognosis of patients with RDD and intrathoracic manifestations is relatively good.

Spontaneous cholecystocutaneous fistula as a primary manifestation of gallbladder adenocarcinoma associated with gallbladder lithiasis - case report.

Science.gov (United States)

Micu, Bogdan Vasile; Andercou, Octavian Aurel; Micu, Carmen Maria; Militaru, Valentin; Jeican, IonuŢ Isaia; Bungărdean, Cătălina Ileana; Mogoantă, Stelian ŞtefăniŢă; Miclăuş, Dan Radu; Pop, Tudor Radu

2017-01-01

Spontaneous cholecystocutaneous fistula (SCF) is a rare complication of neglected calculous biliary disease and also an extremely rare complication of gallbladder neoplasm. This pathology has become even rarer because of prompt diagnosis and expedient surgical intervention for gallstones. So far, there is one published report of a SCF due to gallbladder adenocarcinoma. We present the case of a woman aged 87 years, admitted to the Vth Department of Surgery, Clinical Municipal Hospital of Cluj-Napoca (Romania) for a tumoral mass located in the epigastrium. In the epigastrium, the patient had three skin orifices of about 1-2 mm each, through which purulent secretion occurred. The abdominal ultrasound highlighted a cholecystocutaneous fistula with the presence of a subcutaneous gallstone. Intraoperatively, we found a cholecystocutaneous fistula, a 1 cm subcutaneous gallstone, gallbladder with thickened walls containing a cylinder-shaped gallstone of 5÷3 cm. Fistulectomy, gallstones extraction and cholecystectomy were performed. The histopathological examination highlighted gallbladder adenocarcinoma. In conclusion, SCF can be the first significant manifestation of gallbladder cancer associated with neglected calculous biliary disease.

Unusual Manifestation of Cutaneous Sarcoidosis: A Case Report of Morpheaform Sarcoidosis

OpenAIRE

Attiyeh Vasaghi; Amir Kalafi

2012-01-01

Sarcoidosis is multi organ disease with cutaneous manifestation in 20%-35% patients. Cutaneous sarcoidosis has variable manifestations that make it difficult to diagnose. So clinical, histopathologic and laboratory evaluation is needed for diagnosis. Most of cutaneous lesions presents as nodul, maculopapule and plaque. Morpheaform lesion is a rare presentation of cutaneous sarcoidosis. This case had multiple indurated scaly plaques resemble morphea with granulomatous pattern in histopathologi...

Chronic myeloproliferative disorders: A rarest case with oral manifestations and dental management

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Pritesh B Ruparelia

2012-01-01

Full Text Available Chronic myeloproliferative disorders (CMPD are rarest hematological disorders (malignant myeloid neoplasms. The three most common chronic myeloproliferative disorders are polycythemia vera, essential thrombocythemia and chronic idiopathic myelofibrosis. Clinical manifestations (including oral manifestations of these disorders are overlapping with each other and with other hematologic disorders, which makes the diagnosis of CMPD a challenging task. In this article we report a rare to rarest case of CMPD at dental outpatient department, its oral manifestations and its management in dental clinics.

Pulmonary lymphangioleiomyomatosis as a pulmonary manifestation of tuberous sclerosis - a case report-

International Nuclear Information System (INIS)

Lee, Young Rahn; Kang, Eun Young; Lee, Nam Joon; Suh, Won Hyuck

1991-01-01

Pulmonary lymphangioleiomyomatosis is a very rare disease mainly arising in reproductive-aged women. Pulmonary lymphangioleiomyomatosis as a pulmonary involvement of tuberous sclerosis is found in only 1 out of 100 patients. Pulmonary involvement in pulmonary lymphangioleiomyomatosis itself and that as a pulmonary manifestation of tuberous sclerosis has been considered very similar with regard to clinical, radiologic, and pathologic manifestations. We report 1 case of pulmonary lymphangioleiomyomatosis as a pulmonary manifestation of tuberous sclerosis in a 39-year-old Korean woman

Nasal manifestations in chromium industry workers.

Science.gov (United States)

Aiyer, R G; Kumar, Gaurav

2003-04-01

People working in mines, plating factories, cement industries are mainly exposed to chrome substances, IIexavalent chromium has been implicated for its toxic effect on the nasal mucosa. Hereby we present a rare study of 28 patients who attended out patient department of Otorhinolaryngology at SSG Hospital, Baroda from a nearby chromium industry. This study aims to present various nasal manifestations of toxic effects of prolonged chromium exposure.

Unusual roentgenologic manifestations of Meckel's diverticulum

International Nuclear Information System (INIS)

Miller, K.B.; Naimark, A.; O'Connor, J.F.; Bouras, L.

1981-01-01

Five cases illustrating rare roentgenographic manifestations of Meckel's diverticulum are presented. Small bowel studies in 2 patients demonstrated a mucosal pattern identifiable as heterotopic gastric rugae, and in 2 other cases peptic ulcers were seen within the diverticulum. In 1 patient the diverticulum located in the right upper quadrant contained calcified enteroliths, and in another patient the diverticulum had fistulous communication with the appendix. (orig.)

Guillain–Barré syndrome occurring synchronously with systemic lupus erythematosus as initial manifestation treated successfully with low-dose cyclophosphamide

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Naveed Ali

2016-04-01

Full Text Available Systemic lupus erythematous (SLE is frequently encountered in clinical practice; a widespread immunological response can involve any organ system, sometimes leading to rare and diagnostically challenging presentations. We describe a 38-year-old female who presented with symmetric numbness and tingling of the hands and feet, and cervical pain. Imaging studies were not diagnostic of any serious underlying pathology. The patient developed ascending paresis involving lower extremities and cranial muscles (dysphagia and facial weakness. Guillain–Barré syndrome (GBS was diagnosed on the basis of electromyography and lumbar puncture showing albuminocytologic dissociation. Intravenous immunoglobulins (IVIG were administered for 5 days. Supported by anti-dsDNA antibody, oral ulcers, proteinuria of 0.7 g in 24 h, and neurological manifestation, she was diagnosed with lupus. After completion of IVIG, she received pulse-dose corticosteroids and one dose of low-dose cyclophosphamide. Her neurological symptoms improved and she had complete neurological recovery several months after her initial presentation. Literature search provides evidence of co-occurrence of lupus and GBS occurring mostly later in the course of the disease. However, GBS as initial manifestation of SLE is exceedingly rare and less understood. The association of GBS with lupus is important to recognize for rapid initiation of appropriate therapy and for consideration of immunosuppressive therapy which may affect the outcome.

Endogen endoftalmitis som første kliniske manifestation af aortaklapendokarditis

DEFF Research Database (Denmark)

Rudbæk, Torsten; Haastrup, Peter; Frydkjær-Olsen, Ulrik

2012-01-01

Infectious endocarditis is considered one of the most severe infections in the Western world. Complications include septic embolism, for example to the brain or the eye. Endogeneous endophthalmitis is a rare but severe eye disease. It is important to remember that clinical signs from the eye can...... be the first manifestation of systemic disease. We present a case report of an 81-year-old woman with endogenous endophthalmitis as the first clinical manifestation of infectious endocarditis....

Primitive neuroectodermal tumor presenting as a presacral mass: A rare case report with review of literature

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Pradnya S Bhadarge

2017-01-01

Full Text Available Primitive neuroectodermal tumors (PNETs are a group of highly malignant small round cell tumor (SRCT of neuroectodermal origin. They exhibit a great diversity in their clinical manifestations and pathologic similarities with other SRCTs. PNET commonly occurs in the central nervous system, head and neck region, paravertebral region, pelvis, and lower extremities. PNET presenting as a presacral mass is very rare. We present a case of 65-year-old female patient presented with a mass in the abdomen. Exploratory laparotomy with excision of mass was carried out. Histopathology revealed the diagnosis of PNET. The rarity of PNET at presacral region prompted the description of this case.

Rare earth metals, rare earth hydrides, and rare earth oxides as thin films

International Nuclear Information System (INIS)

Gasgnier, M.

1980-01-01

The review deals with pure rare earth materials such as rare earth metals, rare earth hydrides, and rare earth oxides as thin films. Several preparation techniques, control methods, and nature of possible contaminations of thin films are described. These films can now be produced in an extremely well-known state concerning chemical composition, structure and texture. Structural, electric, magnetic, and optical properties of thin films are studied and discussed in comparison with the bulk state. The greatest contamination of metallic rare earth thin films is caused by reaction with hydrogen or with water vapour. The compound with an f.c.c. structure is the dihydride LnH 2 (Ln = lanthanides). The oxygen contamination takes place after annealing at higher temperatures. Then there appears a compound with a b.c.c. structure which is the C-type sesquioxide C-Ln 2 O 3 . At room atmosphere dihydride light rare earth thin films are converted to hydroxide Ln(OH) 3 . For heavy rare earth thin films the oxinitride LnNsub(x)Osub(y) is observed. The LnO-type compound was never seen. The present review tries to set the stage anew for the investigations to be undertaken in the future especially through the new generations of electron microscopes

Atypical manifestations of Epstein-Barr virus in children: a diagnostic challenge.

Science.gov (United States)

Bolis, Vasileios; Karadedos, Christos; Chiotis, Ioannis; Chaliasos, Nikolaos; Tsabouri, Sophia

2016-01-01

Clarify the frequency and the pathophysiological mechanisms of the rare manifestations of Epstein-Barr virus infection. Original research studies published in English between 1985 and 2015 were selected through a computer-assisted literature search (PubMed and Scopus). Computer searches used combinations of key words relating to "EBV infections" and "atypical manifestation." Epstein-Barr virus is a herpes virus responsible for a lifelong latent infection in almost every adult. The primary infection concerns mostly children and presents with the clinical syndrome of infectious mononucleosis. However, Epstein-Barr virus infection may exhibit numerous rare, atypical and threatening manifestations. It may cause secondary infections and various complications of the respiratory, cardiovascular, genitourinary, gastrointestinal, and nervous systems. Epstein-Barr virus also plays a significant role in pathogenesis of autoimmune diseases, allergies, and neoplasms, with Burkitt lymphoma as the main representative of the latter. The mechanisms of these manifestations are still unresolved. Therefore, the main suggestions are direct viral invasion and chronic immune response due to the reactivation of the latent state of the virus, or even various DNA mutations. Physicians should be cautious about uncommon presentations of the viral infection and consider EBV as a causative agent when they encounter similar clinical pictures. Copyright © 2016 Sociedade Brasileira de Pediatria. Published by Elsevier Editora Ltda. All rights reserved.

Identification of extreme motor phenotypes in Huntington's disease.

Science.gov (United States)

Braisch, Ulrike; Hay, Birgit; Muche, Rainer; Rothenbacher, Dietrich; Landwehrmeyer, G Bernhard; Long, Jeffrey D; Orth, Michael

2017-04-01

The manifestation of motor signs in Huntington's disease (HD) has a well-known inverse relationship with HTT CAG repeat length, but the prediction is far from perfect. The probability of finding disease modifiers is enhanced in individuals with extreme HD phenotypes. We aimed to identify extreme HD motor phenotypes conditional on CAG and age, such as patients with very early or very late onset of motor manifestation. Retrospective data were available from 1,218 healthy controls and 9,743 HD participants with CAG repeats ≥40, and a total of about 30,000 visits. Boundaries (2.5% and 97.5% quantiles) for extreme motor phenotypes (UHDRS total motor score (TMS) and motor age-at-onset) were estimated using quantile regression for longitudinal data. More than 15% of HD participants had an extreme TMS phenotype for at least one visit. In contrast, only about 4% of participants were consistent TMS extremes at two or more visits. Data from healthy controls revealed an upper cut-off of 13 for the TMS representing the extreme of motor ratings for a normal aging population. In HD, boundaries of motor age-at-onset based on diagnostic confidence or derived from the TMS data cut-off in controls were similar. In summary, a UHDRS TMS of more than 13 in an individual carrying the HD mutation indicates a high likelihood of motor manifestations of HD irrespective of CAG repeat length or age. The identification of motor phenotype extremes can be useful in the search for disease modifiers, for example, genetic or environmental such as medication. © 2016 Wiley Periodicals, Inc. © 2016 Wiley Periodicals, Inc.

Vertigo as a Predominant Manifestation of Neurosarcoidosis

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Tasnim F. Imran

2015-01-01

Full Text Available Sarcoidosis is a granulomatous disease of unknown etiology that affects multiple organ systems. Neurological manifestations of sarcoidosis are less common and can include cranial neuropathies and intracranial lesions. We report the case of a 21-year-old man who presented with vertigo and uveitis. Extensive workup including brain imaging revealed enhancing focal lesions. A lacrimal gland biopsy confirmed the diagnosis of sarcoidosis. The patient was initially treated with prednisone, which did not adequately control his symptoms, and then was switched to methotrexate with moderate symptomatic improvement. Our patient had an atypical presentation with vertigo as the predominant manifestation of sarcoidosis. Patients with neurosarcoidosis typically present with systemic involvement of sarcoidosis followed by neurologic involvement. Vertigo is rarely reported as an initial manifestation. This case highlights the importance of consideration of neurosarcoidosis as an entity even in patients that may not have a typical presentation or systemic involvement of disease.

Thyroid Gland Metastasis from Cancer of the Uterine Cervix: An Extremely Rare Case Report.

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Celik, Suleyman Utku; Besli, Dilara; Sak, Serpil Dizbay; Genc, Volkan

The thyroid gland is a relatively uncommon site for a metastatic disease, although it is richly supplied with blood. The metastases may originate from various primary sites, mainly kidney, lung, head and neck, and breast. Thyroid metastasis from cervical carcinomas is extremely rare; and only a few cases have been previously reported in the literature. In patient with thyroid nodules and an oncological history, the possibility of thyroid metastasis should be seriously considered. Despite the rarity of the metastasis of cervical carcinoma to the thyroid, it is difficult to say appropriate treatment approach for these lesions. When managing such patients, decision-making should balance the possibility of gaining long-term survival against estimation of the aggressiveness of the disease and its possible complications. Here, a case of thyroid metastasis from a squamous cell carcinoma of the uterine cervix presenting with cervical mass and difficulty in swallowing and its treatment is reported.

Unusual Manifestation of Cutaneous Sarcoidosis: A Case Report of Morpheaform Sarcoidosis

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Attiyeh Vasaghi

2012-09-01

Full Text Available Sarcoidosis is multi organ disease with cutaneous manifestation in 20%-35% patients. Cutaneous sarcoidosis has variable manifestations that make it difficult to diagnose. So clinical, histopathologic and laboratory evaluation is needed for diagnosis. Most of cutaneous lesions presents as nodul, maculopapule and plaque. Morpheaform lesion is a rare presentation of cutaneous sarcoidosis. This case had multiple indurated scaly plaques resemble morphea with granulomatous pattern in histopathologic examination. The patient responded to prednisolone in addition to hydroxychloroquine.

Extremism from the perspective of a system approach

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Zinchenko, Yury P.

2014-03-01

Full Text Available Extremism is seen as a complex, multilevel, and multicomponent phenomenon. The problems of modern science in understanding extremism are revealed. The following bases of extremism as a system phenomenon are singled out: social factors, latent extremism, and extremist acts. It is demonstrated that a system approach makes it possible to shape a notion of a subject as a system, to identify patterns of the manifestations of the given phenomenon, and to translate them into concrete practices.

Otolaryngic manifestations of Cushing disease.

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Kuan, Edward C; Peng, Kevin A; Suh, Jeffrey D; Bergsneider, Marvin; Wang, Marilene B

2017-08-01

Cushing disease is a relatively rare cause of Cushing syndrome secondary to a hyperfunctioning pituitary adenoma. In addition to signs and symptoms of hypercortisolism, Cushing disease may present with diverse otolaryngic manifestations, which may guide diagnosis and management. We performed a retrospective chart review of patients who were found to have Cushing disease and who underwent transnasal transsphenoidal surgery for pituitary adenomas between January 1, 2007, and July 1, 2014, at a tertiary academic medical center. There were 37 consecutive patients in this series with Cushing disease caused by a pituitary adenoma. Fifteen (41%) patients complained of visual changes. Five (14%) patients suffered from obstructive sleep apnea. Four (11%) patients had thyroid disease. Other symptoms included hearing loss, vertigo, tinnitus, epistaxis, dysphagia, and salivary gland swelling. Although Cushing disease traditionally presents with classic "Cushingoid" systemic features, it also may present with various otolaryngic manifestations. A thorough workup by otolaryngologists is critical in the comprehensive management of these patients.

Evolution caused by extreme events.

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Grant, Peter R; Grant, B Rosemary; Huey, Raymond B; Johnson, Marc T J; Knoll, Andrew H; Schmitt, Johanna

2017-06-19

Extreme events can be a major driver of evolutionary change over geological and contemporary timescales. Outstanding examples are evolutionary diversification following mass extinctions caused by extreme volcanism or asteroid impact. The evolution of organisms in contemporary time is typically viewed as a gradual and incremental process that results from genetic change, environmental perturbation or both. However, contemporary environments occasionally experience strong perturbations such as heat waves, floods, hurricanes, droughts and pest outbreaks. These extreme events set up strong selection pressures on organisms, and are small-scale analogues of the dramatic changes documented in the fossil record. Because extreme events are rare, almost by definition, they are difficult to study. So far most attention has been given to their ecological rather than to their evolutionary consequences. We review several case studies of contemporary evolution in response to two types of extreme environmental perturbations, episodic (pulse) or prolonged (press). Evolution is most likely to occur when extreme events alter community composition. We encourage investigators to be prepared for evolutionary change in response to rare events during long-term field studies.This article is part of the themed issue 'Behavioural, ecological and evolutionary responses to extreme climatic events'. © 2017 The Author(s).

[Subglottic stenosis as the initial manifestation of Wegener's granulomatosis in a teenager. Case report].

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Cuestas, Giselle; Rodríguez, Verónica; Doormann, Flavia; Pringe, Alejandra; Bellia Munzón, Patricio; Bellia Munzón, Gastón; Ortega, Carlos; Álvarez, Rubén

2017-04-01

Wegener's granulomatosis is a necrotizing granulomatous vasculitis of autoimmune origin that primarily affects the upper and lower airways and kidneys. It is very rare in children and adolescents. When started at a young age it is often associated with subglottic stenosis. Subglottic stenosis is a potentially fatal manifestation of Wegener's granulomatosis. Its diagnosis requires a high index of suspicion since it might develop in the absence of other signs of activity. Occasionally, subglottic stenosis may present as the initial manifestation of the disease. Diagnosis is confirmed by endoscopic visualization of the lesion. The treatment is complex, and it often requires repeated interventions due to restenosis. We present a 13-year-old patient with subglottic stenosis secondary to Wegener's granulomatosis. We describe the clinical manifestations, diagnosis and treatment of this rare cause of respiratory distress in the pediatric population. Sociedad Argentina de Pediatría.

Spontaneous Rupture of Splenic Artery Aneurysm during the First Trimester of Pregnancy: Report of an Extremely Rare Case and Review of the Literature

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Theodoros Pavlis

2012-01-01

Full Text Available Splenic artery aneurysm (SAA occurs predominantly in women and the majority of them are asymptomatic until rupture. In cases of spontaneous rupture of an SAA, maternal and fetal mortality rates remain extremely high. Furthermore, the spontaneous ruptures of SAAs predominantly appear during the third trimester of pregnancy. We present the third known case of spontaneous SAA rupture during the first trimester of pregnancy, which manifested as sudden hypovolemic collapse and was successfully confronted with combined aggressive resuscitation and emergency surgical operation.

Xeroderma pigmentosum: A rare case report with review of literature

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B Anand

2012-01-01

Full Text Available Xeroderma pigmentosum, or XP, is an autosomal recessive genetic disorder in which the ability to repair DNA damage caused by ultraviolet (UV light is deficient. In extreme cases, all exposure to sunlight must be forbidden, no matter how small. As such, individuals with the disease are often colloquially referred to as ′Children of the Night′. Mutations in XP genes that regulate nucleotide excision repair, not only predispose persons with xeroderma pigmentosum to multiple malignancies, but also promote premature cutaneous and ocular ageing, and in some cases promote progressive neurodegenerative changes. There is a great involvement of many parts of the body, especially head and neck. The oral manifestations are mainly related to the occurrence of malignant tumors in the lips, tongue and buccal mucosa. This paper reports a rare case of XP in a 40-year-old female presenting with dermatological, oral and ophthalmological involvement.

A Rare Clinical Presentation of Darier’s Disease

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Ferizi, Mybera; Begolli-Gerqari, Antigona; Luzar, Bostjan; Kurshumliu, Fisnik; Ferizi, Mergita

2013-01-01

Darier’s disease, also known as keratosis follicularis or dyskeratosis follicularis, is a rare disorder of keratinization. It is an autosomal dominant genodermatosis with high penetrance and variable expressivity. Its manifestation appears as hyperkeratotic papules, primarily affecting seborrheic areas on the head, neck, and thorax and less frequently on the oral mucosa. When oral manifestations are present, the palatal and alveolar mucosae are primarily affected. They are usually asymptomat...

Oral manifestations associated with systemic complications of prune belly syndrome.

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Pessoa, Larissa; Galvão, Virgilio

2013-01-01

Prune belly syndrome (PBS) is a rare congenital malformation of unknown etiology characterized by congenital abnormalities including abdominal wall flaccidity, urinary tract alterations, and bilateral cryptorchidism. The incidence of the syndrome is between 1/35000 and 1/50000 live births and there is little information about the oral findings. The present case describes the oral manifestations of a 15-year-old boy diagnosed with PBS. The findings include enamel hypoplasia associated with generalized hypocalcemic dental lines. In the radiographic exam, pronounced demineralization of the trabecular bone of the jaws, loss of lamina dura in all the teeth, and discontinuity of the mandibular cortical bone were observed. Prune belly syndrome is a rare disease, whose clinical dental aspects are not pathognomonic of the syndrome. The comprehension of the systemic mechanism of PBS and its comorbidities enable an understanding of the systemic etiologic factors associated with oral manifestations. Copyright © 2013 Elsevier Inc. All rights reserved.

A rare case of Weil's disease with alveolar haemorrhage

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Abhiram Chakrabarti

2014-05-01

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

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

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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.

Thyrotoxic Neuropathy: A rare cause of acute flaccid paraplegia

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Aiman K. Al-Wahaibi

2018-01-01

Full Text Available Acute polyneuropathy is a rare manifestation of severe hyperthyroidism. We report a 22-year-old Omani male who presented to the Sohar Hospital, Sohar, Oman, in 2016 with acute-onset rapidly progressive flaccid areflexic paraplegia as the presenting manifestation of thyrotoxicosis. Nerve conduction studies revealed mixed axonal and demyelinating polyneuropathy in both the motor and sensory nerves. Treatment of the hyperthyroidism with β-blockers and carbimazole along with physiotherapy resulted in the patient’s full recovery and the alleviation of his symptoms. Besides highlighting this rare association, this report underscores the importance of including thyroid function tests in the evaluation of patients with acute polyneuropathy.

Statistics of Extremes

KAUST Repository

Davison, Anthony C.; Huser, Raphaë l

2015-01-01

Statistics of extremes concerns inference for rare events. Often the events have never yet been observed, and their probabilities must therefore be estimated by extrapolation of tail models fitted to available data. Because data concerning the event

Isolated Medial Rectus Nuclear Palsy as a Rare Presentation of Midbrain Infarction.

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Al-Sofiani, Mohammed; Lee Kwen, Peterkin

2015-10-08

Diplopia is a common subjective complaint that can be the first manifestation of a serious pathology. Here, we report a rare case of midbrain infarction involving the lateral subnucleus of the oculomotor nuclear complex presenting as diplopia, with no other stroke manifestations. An 83-year-old right-handed white man with past medical history of diabetes mellitus, hypertension, dyslipidemia, and coronary artery disease presented to the emergency department (ED) with diplopia and unsteadiness. Two days prior to admission, the patient woke up with constant horizontal diplopia and unsteadiness, which limited his daily activities and led to a fall at home. He denied any weakness, clumsiness, nausea, vomiting, photophobia, fever, or chills. Ocular exam showed a disconjugate gaze at rest, weakness of the left medial rectus muscle, impaired convergence test, and bilateral 3-mm reactive pupils. The diplopia resolved by closing either eye. The remaining extraocular muscles and other cranial nerves were normal. There was no nystagmus, ptosis, or visual field deficit. Sensation, muscle tone, and strength were normal in all extremities. Magnetic resonance imaging (MRI) of the brain revealed a tiny focus of restricted diffusion in the left posterior lateral midbrain. A thorough history and physical examination is essential to diagnose and manage diplopia. Isolated extraocular palsy is usually thought to be caused by orbital lesions or muscular diseases. Here, we report a case of midbrain infarction manifested as isolated medial rectus palsy.

Central nervous system involvement in primary Sjogren`s syndrome manifesting as multiple sclerosis.

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Liu, Jing-Yao; Zhao, Teng; Zhou, Chun-Kui

2014-04-01

Central nervous system symptoms in patients with primary Sjogren`s syndrome are rare. They can present as extraglandular manifestations and require a differential diagnosis from multiple sclerosis. Due to a variety of presentations, Sjogren`s syndrome with neurologic involvement may be difficult to diagnose. Here, we report a case of a 75-year-old woman who was first diagnosed with multiple sclerosis in 2010, but who was subsequently diagnosed with primary Sjogren`s syndrome 2 years later after showing signs of atypical neurologic manifestations. Therefore, primary Sjogren`s syndrome should be suspected in patients who present with atypical clinical and radiologic neurologic manifestations.

Nail lesions as a main manifestation of lichen nitidus

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Michał Sobjanek

2015-09-01

Full Text Available Introduction . Lichen nitidus (LN is a rare, chronic, inflammatory dermatosis usually affecting children and young adults. Nails involvement is very rare. Until now, 7 cases of LN with nail involvement have been described. Objective. To present a rare case of childhood lichen nitidus where trachyonychia was the main manifestation of the disease. Case report. A 7-year-old, Caucasian, previously healthy boy presented thumbnail longitudinal ridges, distal splitting and subungual hyperkeratosis for 7 months. Numerous mycological and bacteriological examinations were negative. Dermatological examination also revealed erythematous lesions on the proximal nail fold as well as small skin-pigmented papules on the thumb. Similar papules grouped into patches were also observed on the upper limbs, trunk and forehead. Treatment was not recommended. Conclusions . Lichen nitidus may rarely affect nails and should be considered as a possible cause of nail lesions in childhood.

Linear non scarring alopecia of the scalp: A rare manifestation of lupus panniculitis

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Sandhyarani Kshetrimayum

2016-01-01

Full Text Available Alopecia in a linear pattern is very rare with only a few cases reported in the medical literature. We report a case of linear non scarring alopecia involving the scalp in a 17-year-old boy with a histological diagnosis of lupus panniculitis. We report this case because of its rarity and also the inclusion of this entity as one of the rare differential of non scarring alopecia.

Meckel’s diverticulum manifested by a subcutaneous abscess

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Karatepe, Oguzhan; Adas, Gokhan; Altıok, Merih; Ozcan, Deniz; Kamali, Sedat; Karahan, Servet

2009-01-01

This case report describes an extremely rare complication of a Meckel’s diverticulum: enterocutaneous fistula of the diverticulum. The presence of Meckel’s diverticulum is a well known entity, but subcutaneous perforation of the diverticulum is very rare. Here we report the case of a patient with the complaint of a right lower quadrant abscess, preoperatively diagnosed as enterocutaneous fistula, which was determined intraoperatively to be a fistula resulting from Meckel’s diverticulum. PMID:20027688

The greenhouse effect and extreme weather

International Nuclear Information System (INIS)

Groenaas, Sigbjoern; Kvamstoe, Nils Gunnar

2002-01-01

The article asserts that an anthropogenic global warming is occurring. This greenhouse effect is expected to cause more occurrences of extreme weather. It is extremely difficult, however, to relate specific weather catastrophes to global warming with certainty, since such extreme weather conditions are rare historically. The subject is controversial. The article also discusses the public debate and the risk of floods

Papilliferous Keratoameloblastoma: An Extremely Rare Case Report

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Neeta Mohanty

2013-01-01

Full Text Available Odontogenic tumors develop in the jaw bones from the odontogenic tissue-oral epithelium in tooth germ, enamel organ, dental papilla, reduced enamel epithelium, remnants of Hertwig’s root sheath or dental lamina, and so forth. Hence, a bewildering variety of tumors are encountered in the maxilla and mandible. Ameloblastoma is the second most common odontogenic neoplasm after odontomes, and it has numerous clinical and histologic variants. We report a very rare histologic variant: the papilliferous keratoameloblastoma which is the fifth reported case in the English literature.

A Rare Manifestation of Tuberculosis Presenting in the United States

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Osman Bhatty

2016-01-01

Full Text Available A 64-year-old Bangladeshi female presented to her primary care physician with a tender right breast lump that had been present for 4-5 days along with subjective fevers and malaise. Initial biopsy revealed granulomas, but Ziehl-Neelsen and Gram stain were negative for TB so antibiotics were prescribed for abscess until culture came positive for tuberculosis. She was started on triple therapy for extrapulmonary tuberculosis, an exceedingly rare presentation that requires high clinical suspicion in the Western world.

Onychomycosis: A Rare Presentation of Fungal Urinary Tract Infection in an Extremely Preterm Neonate

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Shilpa Kalane

2015-06-01

Full Text Available Onychomycosis refers to nail infections, caused by fungi including yeasts and non-dermatophyte moulds. One or several toenails or fingernails (seldom all may be involved in this condition. Many cases of fingernail onychomycosis are due to yeasts. Fungal infection has emerged as an important cause of neonatal infection, associated with significant morbidity and mortality, especially in very low birth weight (< 1500 g and extremely low birth weight (< 1000 g infants. Herein, we report a case of a 24-day-old male infant, who presented with onychomycosis on the left ring fingernail, associated with fungal urinary tract infection (UTI. The evaluation of nails helped us detect fungal UTI. To date, there have been no reports suggesting onychomycosis as a presentation of fungal UTI. We could not find the association between onychomycosis and neonatal fungal UTI. Hence, retrospectively, it can be said that onychomycosis was a presentation of fungal UTI. Further studies are required to evaluate the etiology and treatment of neonatal onychomycosis. Moreover, dermatologists should pay particular attention to this rare event.

Chediak-Higashi syndrome: brain MRI and MR spectroscopy manifestations

International Nuclear Information System (INIS)

Lolli, Valentina; Soto Ares, Gustavo; Pruvo, Jean-Pierre; Abou Chahla, Wadih; Jissendi-Tchofo, Patrice

2015-01-01

Chediak-Higashi syndrome is a rare inherited metabolic disorder characterized by partial oculocutaneous albinism, immunodeficiency, and neurological dysfunction. We present the brain magnetic resonance imaging (MRI) and MR spectroscopy (MRS) findings obtained during the accelerated phase of the disorder in an 8-year-old. The brain MRI manifestations at recurrences 15 months and 24 months later are reported as well. (orig.)

[Rapidly progressive compromise of cranial pairs as neurosyphilis manifestation].

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Baccaro, Fernando; Moldes, Sofía; Novelli Poisson, Paola; Arduin, Julieta; Valerga, Mario

2012-01-01

Syphilis remains a common disease throughout the world, being neurosyphilis a relatively common manifestation. A case of a 34 years old male with HIV and neurosyphilis is presented, characterized by a clinical course evidenced by progressive palsy of cranial nerves. This case is unusual and a rare presentation of progressive cranial involvement with swallowing deficit, have found no similar data in the literature.

Chediak-Higashi syndrome: brain MRI and MR spectroscopy manifestations

Energy Technology Data Exchange (ETDEWEB)

Lolli, Valentina; Soto Ares, Gustavo; Pruvo, Jean-Pierre [Roger Salengro Hospital, CHRU, Neuroradiology Department, Lille (France); Abou Chahla, Wadih [Jeanne de Flandre Hospital, Pediatric Hematology and Oncology Department, Lille (France); Jissendi-Tchofo, Patrice [University Hospital Saint-Pierre, Radiology Department - Pediatric Neuroradiology Section, Brussels (Belgium)

2015-08-15

Chediak-Higashi syndrome is a rare inherited metabolic disorder characterized by partial oculocutaneous albinism, immunodeficiency, and neurological dysfunction. We present the brain magnetic resonance imaging (MRI) and MR spectroscopy (MRS) findings obtained during the accelerated phase of the disorder in an 8-year-old. The brain MRI manifestations at recurrences 15 months and 24 months later are reported as well. (orig.)

Sarcoidosis: Oral and extra-oral manifestation

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Sanjay Gupta

2015-01-01

Full Text Available Sarcoidosis is a multisystem granulomatous disease, which is usually associated with the formation of noncaseating granulomas in affected tissues and organs. It is mostly present with bilateral hilar lymphadenopathy, pulmonary infiltration, ocular, and cutaneous lesions. Oral manifestations of this disease are relatively rare. The present case report shows a 40-year-old male with lesions in the soft tissue of oral cavity (buccal mucosa, gingiva, and palate and a diagnosis of sarcoidosis was established following hematological, biochemical and pulmonary function tests, chest radiograph, and histopathological investigation.

Calcification of the heart: A rare manifestation of chronic renal failure

International Nuclear Information System (INIS)

Moraes, C.R. de

1986-01-01

A case is presented in which chronic renal failure led to intense visceral calcification, mainly to the lungs and heart. The discovery of cardiac calcifications on plain chest radiographs is exceedingly rare in renal patients. Puncate calcific deposits with an almost homogeneous distribution throughout the cardiac muscle were the main feature of this case. (orig.)

Ocular manifestations of systematic lupus erythematosus in children

International Nuclear Information System (INIS)

Al-Mayouf, Sulaiman M.; Al-Hemidan, Amal I.

2003-01-01

To determine the prevalence and spectrum of ocular manifestations in children with systematic lupus erythematosus (SLE) and to examine the correlation of the ocular manifestations with disease activity , other organ involvement and the presence of circulating of autoantibodies. This study was performed at King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia from June 2002 to November 2002. It included detailed eye examination, measuring circulating autoantibodies (antinuclear,anti phospholipid antibodies) and circulation of SLE disease activity index (SLEDAI). 52 consecutive children (45 females) with SLE completed the evaluation .The mean age of the patients was 11.3 years and the mean SLEDAI was 9.5 Thirty patients (57.7%) had the disease for more than 1 year. 18 patients(34.6%) had ocular manifestations.7 patients had abnormal . Schirmer's test. 5 patients had ratinal vascular lesions. 1 patient had bilateral iridocyclitis. 3 patients had unilateral optic neuropathy and 11 patients had visual field defects.Fisher extract test revealed positive correlation between optic neuropathy and central nervous system(CNS) involvement. There was no correlation among other variables; probably due to sample size. Ocular manifestations including sight threatening complications are not rare in children with SLE.Optic neuropathy had a strong prediction for CNS lupus. (author)

A dural metastatic small cell carcinoma of the gallbladder as the first manifestation: a case report.

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Tonomura, Shuichi; Kitaichi, Tomoko; Onishi, Rina; Kakehi, Yoshiaki; Shimizu, Hisao; Shimada, Keiji; Kanemasa, Kazuyuki; Fukusumi, Akio; Takahashi, Nobuyuki

2018-03-16

A dural metastasis is one of the essential differential diagnoses of meningioma. In general, carcinomas of the breast and lung in females and prostate in males have been the most commonly reported primary lesions of dural metastases. However, dural metastasis of gallbladder carcinoma is extremely rare. Here, we report a unique case of a dural matter metastasis of gallbladder carcinoma as the first manifestation, which was autopsy-defined as small cell carcinoma. A 78-year-old man came to our hospital complaining of left hemianopia. Brain computed tomography (CT) revealed a sizeable parasagittal dural-based extra-axial tumor. However, the findings for meningioma were atypical by magnetic resonance imaging, suggesting a meningioma mimic. A contrast-enhanced CT scan of the abdomen revealed a large gallbladder carcinoma. The patient opted for the best supportive care and died 2 months later. The post-mortem examination revealed small cell carcinoma in gallbladder carcinoma. Moreover, an immunologically similar carcinoma was detected in the dural metastasis. To the best of our knowledge, this is the first case of a dural metastasis of gallbladder small cell carcinoma. A systemic examination is essential for clinicians when atypical findings of meningioma are observed, suggesting a meningioma mimic. We present this rare case with a review of the literature.

[Infectious Mononucleosis and Cholestatic Hepatitis: A Rare Association].

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Salgado, Catarina; Garcia, Ana Margarida; Rúbio, Catarina; Cunha, Florbela

2017-12-29

Infectious mononucleosis is one of the major clinical manifestations of Epstein-Barr virus infection. In this syndrome, elevation of liver transaminase levels is common but cholestasis is rare, with few cases described in the literature. We present the case of a 14-year-old female adolescent, admitted to the Emergency Room with fever, odynophagia and cervical adenomegaly. She was treated with amoxicillin and two days later he presented with jaundice. The analytical evaluation was compatible with cholestatic hepatitis and abdominal ultrasound revealed hepatosplenomegaly without dilatation of the bile ducts. The diagnosis of Epstein-Barr virus infection was confirmed by the presence of serological markers. This case aims to raise awareness of a rare manifestation of a common infectious agent and, consequently, to the inclusion of acute Epstein-Barr virus infection in the differential diagnosis of pediatric cholestatic hepatitis.

Esophageal Rupture as a Primary Manifestation in Eosinophilic Esophagitis

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Natalia Vernon

2014-01-01

Full Text Available Eosinophilic esophagitis (EoE is a chronic inflammatory process characterized by symptoms of esophageal dysfunction and, histologically, by eosinophilic infiltration of the esophagus. In adults, it commonly presents with dysphagia, food impaction, and chest or abdominal pain. Chronic inflammation can lead to diffuse narrowing of the esophageal lumen which may cause food impaction. Endoscopic procedures to relieve food impaction may lead to complications such as esophageal perforation due to the friability of the esophageal mucosa. Spontaneous transmural esophageal rupture, also known as Boerhaave’s syndrome, as a primary manifestation of EoE is rare. In this paper, we present two adult patients who presented with esophageal perforation as the initial manifestation of EoE. This rare complication of EoE has been documented in 13 other reports (11 adults, 2 children and only 1 of the patients had been previously diagnosed with EoE. A history of dysphagia was present in 1 of our patients and in the majority of previously documented patients. Esophageal perforation is a potentially severe complication of EoE. Patients with a history of dysphagia and patients with spontaneous esophageal perforation should warrant an evaluation for EoE.

Cardiac tamponade as the initial manifestation of pulmonary adenocarcinoma

International Nuclear Information System (INIS)

Letonja, M.; Debeljak, A.

2007-01-01

Background. Neoplastic pericarditis can be presented as acute pericarditis, pericardial effusion, effusive constrictive pericarditis or cardiac tamponade. For the majority of patients, a clinical manifestation of neoplastic pericarditis is absent or remains unrecognised during their life. Case report: A 69-year-old non-smoking woman with acute dyspnoea, tachycardia, jugular venous distension, hepatomegaly and right side pleural effusion was presented in the emergency department. The roentgen picture of the chest confirmed pleural effusion and revealed enlarged heart. An emergency echocardiogram established the diagnosis of cardiac tamponade. The patient improved immediately after the therapeutic pericardiocentesis. Cytology of pericardial fluid confirmed malignant glandular cells, consistent with metastatic adenocarcinoma. A computed chest tomography showed a right side pleural effusion and a solitary round lesion in the right lower lobe of the lung. Bronchoscopy with fundoscopic lung biopsy and brushing revealed adenocarcinoma. Cardiac tamponade as the initial manifestation of malignancy is rare and rare is also malignant pericardial effusion due the adenocarcinoma of the lung in a non-smoking woman. The presented patient had one of the longest survival reported in literature despite a limited life expectancy regardless of the treatment in the patient presented with neoplastic pericarditis. (author)

[Streptococcus suis infection--clinical manifestations].

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Dragojlović, Julijana; Milosević, Branko; Sasić, Neda; Pelemis, Mijomir; Sasić, Milan

2005-01-01

Streptococcus suis is a bacterium causing a disease in pigs and rarely in humans. This zoonosis is mostly found as a sporadic disease in individuals that were in contact with the affected or infected pigs: farmers, veterinarians and workers engaged in fresh pork processing. It is assumed that the bacterium enters the body through a cut abrasion in the skin. Initially, the condition resembles a flu, followed by signs of bacteriemia and sepsis. The most frequent clinical manifestation of Streptococcus suis infection is meningitis, leading to hearing loss in over 75% of patients, and subsequent arthritis, endophtalmitis, endocarditis and pneumonia. Toxic shock syndrome with hemorhagic manifestations rarely develops. This study included five male patients aged 22 to 63 years treated in the Intensive Care Unit of the Institute of Infectious and Tropical Diseases in Belgrade, due to Streptococcus suis infection. The aim of this study was to point to the existence of this bacteria in our environment, to describe clinical manifestations of the disease and to point out the importance of its prevention. All patients had epidemiological evidence of being in contact with pork meat. There were no data about diseased pigs. The estimated incubation period was 4 to 8 days. All patients had meningeal signs. Clinical symptoms included shivering, fever, vomiting, headache, malaise, vertigo and tinitus. Three patients presented with alerterd level of awarrness. Four patients developed very severe bilateral hearing impairment, whereas one endophtalmtis and one developed endocarditis. The cerebrospinal fluid (CSF) was opalescent in four patients, and only one patient presented with clear CSF. CSF examination showed typical changes characteristic for bacterial meningitis. Streptoccocus suis was isolated in CSF in all patients, and in one patient the bacteria was isolated in blood as well. All patients underwent treatement with II and III generation cephalosporins and one with one

Atypical Focal Osteomyelitis as Initial Manifestation of AIDS

OpenAIRE

A. Akiki; Y. Bilde

2011-01-01

Persistent pain development after a skeletal contusion rarely poses the diagnosis of osteomyelitis. We report the case of a fibular head contusion as an initial manifestation of a focal abscess development in a healthy young patient. The traditional treatment of surgical drainage revealed the presence of an atypical Mycobacterium haemophilum isolates in the abscess. This lead to further investigations that concluded and established the diagnosis of AIDS. Conclusion. Isolation of an atypical M...

Syphilitic hepatitis: An uncommon manifestation of a common disease

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Sukriti Baveja

2014-01-01

Full Text Available Hepatitis being first manifestation of secondary syphilis is rare. Here in we report a case of 39 years old male who was being treated for hepatitis and presented to us subsequently with itchy maculopapular rash. Venereal disease research laboratory (VDRL titre was 1:16. Treponema pallidum hemagglutination assay (TPHA was positive. He was treated with intramuscular Benzathine Penicillin. His hepatitis improved rapidly.

Spontaneous subarachnoid hemorrhage as manifestation of an acoustic neurinoma

International Nuclear Information System (INIS)

Mironov, A.; Voigt, K.; Peiffer, J.; Rios Nogales Carces, L.

1986-01-01

Subarachnoid hemorrhages (SAH) due to intracranial tumors are very rare. We report the clinical, neuroradiological and histological findings of an acoustic neurinoma, the initial and manifestating symptom of which was an acute SAH. In the literature we found only eight further cases of acoustic neurinomas with spontaneous SAH. The causes of the SAH are discussed; and we compare our findings to those in the literature. (orig.) [de

Deep Vein Thrombosis as Initial Manifestation of Whipple Disease

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Mônica Souza de Miranda Henriques

2016-11-01

Full Text Available Introduction: Wipple disease (WD is a rare chronic disease caused by the bacillus Tropheryma whipplei. Constitutive, rheumatologic, gastrointestinal, cardiac, cerebral, lymphatic, cutaneous, and ophthalmological signs are possible systemic symptoms. However, thrombotic manifestations are rarely described as “stroke-like syndrome” or arterial thrombosis. Diagnosis is based on clinical manifestations and pathological examination. Laboratory findings may include anemia, leukocytosis, and thrombocytosis. Objective: We report a case of venous thrombosis as initial manifestation of WD. Case Report: We describe the case of a 53-year-old male with iliofemoral vein thrombosis followed by intermittent diarrhea, loss of appetite, abdominal distension, and bloating. A mild malnutrition state with a weight loss of 13 kg, pallor (+/4 +, presence of lower-limb edema (+/4 +, and hypertympanic distended abdomen occurred. Laboratory tests on admission revealed anemia, positive inflammatory activity tests, and normal coagulation. Endoscopic examination showed villous edema with white dotted infiltrates in the second duodenal portion and intestinal lymphangiectasia in the terminal ileum. Pathological examination revealed numerous macrophages with positive periodic acid-Schiff inclusions. Venous Doppler ultrasound showed extensive deep thrombosis on the left lower limb and recanalization of the femoral vein in the right lower limb. The patient was treated with ceftriaxone and enoxaparin sodium, which led to an improvement of gastrointestinal and thrombosis symptoms. Comments: Hypercoagulability, endothelial damage, vasculitis, and blood stasis are present in T. whipplei infection, which are associated with the activation of inflammatory mechanisms as well as procoagulant and thromboembolic events. WD should be part of the differential diagnosis of diseases that cause venous thrombosis of unknown origin.

Case report of Graves’ disease manifesting with odynophagia and heartburn

Science.gov (United States)

Evsyutina, Yulia; Trukhmanov, Alexander; Ivashkin, Vladimir; Storonova, Olga; Godjello, Elina

2015-01-01

Graves’ disease is an autoimmune disease, which can manifest with a variety of extrathyroidal clinical syndromes like ophthalmopathy, pretibial myxedema (dermopathy), acropathy, cardiomyopathy, and encephalopathy. Though quite rare, this disease can also manifest with gastrointestinal symptoms such as dysphagia, heartburn, nausea, vomiting and diarrhea. We report a clinical case of Graves’ disease manifesting with dysfunction of the esophagus and heartburn in a 61-year-old man. In the muscular layer of the esophagus we found dystrophic changes led to its atony, which was documented by endoscopy and high-resolution manometry. The pathology features of esophageal symptoms were: focal proliferation of the basal cells, vascular distension, and dystrophy of the epithelial cells. Antithyroid treatment led to decrease of all clinical symptoms after 5 d of Thiamazole administration. Complete restoration of peristalsis in the esophagus, according to manometry, was observed in 1 mo after initiation of treatment. PMID:26730171

Case report of Graves' disease manifesting with odynophagia and heartburn.

Science.gov (United States)

Evsyutina, Yulia; Trukhmanov, Alexander; Ivashkin, Vladimir; Storonova, Olga; Godjello, Elina

2015-12-28

Graves' disease is an autoimmune disease, which can manifest with a variety of extrathyroidal clinical syndromes like ophthalmopathy, pretibial myxedema (dermopathy), acropathy, cardiomyopathy, and encephalopathy. Though quite rare, this disease can also manifest with gastrointestinal symptoms such as dysphagia, heartburn, nausea, vomiting and diarrhea. We report a clinical case of Graves' disease manifesting with dysfunction of the esophagus and heartburn in a 61-year-old man. In the muscular layer of the esophagus we found dystrophic changes led to its atony, which was documented by endoscopy and high-resolution manometry. The pathology features of esophageal symptoms were: focal proliferation of the basal cells, vascular distension, and dystrophy of the epithelial cells. Antithyroid treatment led to decrease of all clinical symptoms after 5 d of Thiamazole administration. Complete restoration of peristalsis in the esophagus, according to manometry, was observed in 1 mo after initiation of treatment.

Chorea--an unusual manifestation in a woman recovering from myxedema coma.

Science.gov (United States)

Yu, Catherine H Y; Stovel, Rebecca; Fox, Susan

2012-01-01

To report a case of reversible chorea in a woman with myxedema coma. We describe the clinical course, imaging findings, and laboratory test results of a patient who initially presented with myxedema coma and then developed reversible chorea upon treatment. A 33-year-old woman with a known history of primary hypothyroidism presented with a 3-week history of lethargy, progressing to a precipitous decline in consciousness that required intubation. Physical examination revealed concurrent hypothermia and bradycardia. Laboratory investigations demonstrated a thyrotropin concentration greater than 100 mIU/L, a free triiodothyronine concentration of 1.9 pg/mL, and a free thyroxine concentration of 0.24 ng/dL, but no other metabolic abnormalities. She was treated with intravenous levothyroxine therapy on the first 2 days of hospital admission (200 mcg and 250 mcg, respectively). On day 2, she was obeying commands and she was extubated. She began exhibiting choreiform movements. Thyroid function test results revealed a normal free thyroxine concentration (1.10 ng/dL), but an elevated thyrotropin concentration (40.98 mIU/L) and a low free triiodothyronine concentration (1.9 pg/mL). Findings from computed tomography and magnetic resonance imaging of her brain and analysis of cerebrospinal fluid were normal. Her regimen was transitioned to oral levothyroxine, 88 mcg daily, and by day 4, her choreiform movements ceased. Neurologic manifestations of hypothyroidism include psychomotor slowing, memory deficits, and dementia, with myxedema coma at the extreme of this spectrum. Although chorea is a rare manifestation of hyperthyroidism, this is the first report of a patient with acquired, reversible choreiform movement disorder while still being severely hypothyroid and treated with levothyroxine.

An Erupted Dilated Odontoma: A Rare Presentation

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Gaurav Sharma

2016-01-01

Full Text Available A dilated odontoma is an extremely rare developmental anomaly represented as a dilatation of the crown and root as a consequence of a deep, enamel-lined invagination and is considered a severe variant of dens invaginatus. An oval shape of the tooth lacking morphological characteristics of a crown or root implies that the invagination happened in the initial stages of morphodifferentiation. Spontaneous eruption of an odontoma is a rare occurrence and the occurrence of a dilated odontoma in a supernumerary tooth is even rarer with only a few case reports documented in the English literature. We present an extremely rare case of erupted dilated odontoma occurring in the supernumerary tooth in anterior maxillary region in an 18-year-old male, which, to the best of our knowledge, is the first ever case reported in English literature.

A rare case report of Strychnos nux-vomica poisoning with bradycardia

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Lesley Ponraj

2017-01-01

Full Text Available Strychnine poisoning is a rare method of deliberate self-harm in adults. Poisoning with strychnine leaves is a rare form of strychnine poisoning, as the usual plant parts used are nuts, bark, and seeds. Although the common cardiac manifestations of strychnine positioning include tachycardia and hypertension, we report a patient with mild strychnine poisoning with bradycardia.

Hiccup: An Extremely Rare Presentation of Thyrotoxicosis of Graves’ Disease

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Irshad Parray

2011-03-01

Full Text Available Persistent hiccup is a rare but potentially severe condition that can be symptomatic of a variety of diseases or idiopathic. Most episodes last only a few minutes and are self-limited, but hiccup can get persistent and become a real problem for physician and patient alike. The center of hiccup may be activated by a great variety of stimuli travelling along different nerve pathways and bring different effecter responses. We report a case of persistent hiccup as a presentation of impending thyroid storm of Graves’ disease. Though the condition is rare, clinicians should remain alert to the possibility of this diagnosis.

Rare Events

Science.gov (United States)

2009-10-01

Limited Operational Exercise 1. 1A Limited Operational Exercise is a multiplayer experiment designed to exploit and study information sharing and...1.4 Summary of the Study The “rare event” of interest is an extreme, deliberate act of violence , destruction or socioeconomic disruption, such as an...connection with terrorism inves- tigations. The programs then use some combination of doctrinal revision and rewards to induce the people to abandon violence

Imaging of supradiaphragmatic manifestations of extranodal nonHodgkin's lymphoma

International Nuclear Information System (INIS)

Cohnen, M.; Saleh, A.; Engelbrecht, V.; Moedder, U.; Germing, U.

2002-01-01

Malignant lymphomas are differentiated into Hodgkin's and non-Hodgkin's-lymphoma (NHL). The following article discusses the imaging of extranodal NHL in supradiaphragmatic localizations. Lymphoma can affect nearly all tissues, and represent a rare entity as primary extranodal NHL. A secondary involvement of non-nodal tissue as consequence of a generalized lymphoproliferative disease is more common,and may be seen as well in HIV-positive patients defining AIDS. As extranodal lymphoma mimick the radiologic appearance of other malignant tumors, direct diagnosis without histologic analysis is often impossible. The article describes typical manifestations of lymphoma of the lungs, the head and neck area including the large glands, and rare localizations as the heart or the breast. (orig.) [de

Statistics of Extremes

KAUST Repository

Davison, Anthony C.

2015-04-10

Statistics of extremes concerns inference for rare events. Often the events have never yet been observed, and their probabilities must therefore be estimated by extrapolation of tail models fitted to available data. Because data concerning the event of interest may be very limited, efficient methods of inference play an important role. This article reviews this domain, emphasizing current research topics. We first sketch the classical theory of extremes for maxima and threshold exceedances of stationary series. We then review multivariate theory, distinguishing asymptotic independence and dependence models, followed by a description of models for spatial and spatiotemporal extreme events. Finally, we discuss inference and describe two applications. Animations illustrate some of the main ideas. © 2015 by Annual Reviews. All rights reserved.

The eye as a window to rare endocrine disorders

Science.gov (United States)

Chopra, Rupali; Chander, Ashish; Jacob, Jubbin J.

2012-01-01

The human eye, as an organ, can offer critical clues to the diagnosis of various systemic illnesses. Ocular changes are common in various endocrine disorders such as diabetes mellitus and Graves’ disease. However there exist a large number of lesser known endocrine disorders where ocular involvement is significant. Awareness of these associations is the first step in the diagnosis and management of these complex patients. The rare syndromes involving the pituitary hypothalamic axis with significant ocular involvement include Septo-optic dysplasia, Kallman's syndrome, and Empty Sella syndrome all affecting the optic nerve at the optic chiasa. The syndromes involving the thyroid and parathyroid glands that have ocular manifestations and are rare include Mc Cune Albright syndrome wherein optic nerve decompression may occur due to fibrous dysplasia, primary hyperparathyroidism that may present as red eye due to scleritis and Ascher syndrome wherein ptosis occurs. Allgrove's syndrome, Cushing's disease, and Addison's disease are the rare endocrine syndromes discussed involving the adrenals and eye. Ocular involvement is also seen in gonadal syndromes such as Bardet Biedl, Turner's, Rothmund's, and Klinefelter's syndrome. This review also highlights the ocular manifestation of miscellaneous syndromes such as Werner's, Cockayne's, Wolfram's, Kearns Sayre's, and Autoimmune polyendocrine syndrome. The knowledge of these relatively uncommon endocrine disorders and their ocular manifestations will help an endocrinologist reach a diagnosis and will alert an ophthalmologist to seek specialty consultation of an endocrinologist when encountered with such cases. PMID:22629495

Fibrolamellar Hepatocellular Carcinoma Presenting as Obstructive Jaundice: Uncommon Presentation of a Rare Entity

International Nuclear Information System (INIS)

Arora, Richa

2015-01-01

Fibrolamellar hepatocellular carcinoma is a rare primary malignant liver tumor, significantly different from generic hepatocellular carcinoma with distinct demographics, risk factors, imaging features, histopathology and prognosis. Unlike conventional hepatocellular carcinoma, it presents in young individuals with no preexisting hepatitis or cirrhosis and does not cause elevation of serum alpha feto proteins in most cases. This paper presents a case report of this rare tumor in a young female with an unusual clinical manifestation of obstructive jaundice (which has not been reported so far) along with a review of its imaging and pathological features, with treatment options. Fibrolamellar HCC is a rare variant of classic HCC with different epidemiology, risk factors, clinical manifestations, radiological, pathological and prognostic features. Therefore, it is important to be familiar with the entity for its early diagnosis and management

Splenic Infarct and Pulmonary Embolism as a Rare Manifestation of Cytomegalovirus Infection

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Prashanth Rawla

2017-01-01

Full Text Available Cytomegalovirus (CMV is a type of herpes infection that has a characteristic feature of maintaining lifelong latency within the host cell. CMV manifestations can cover a broad spectrum from fever to as severe as pancytopenia, hepatitis, retinitis, meningoencephalitis, Guillain-Barre syndrome, pneumonia, and thrombosis. Multiple case reports of thrombosis associated with CMV have been reported. Deep vein thrombosis or pulmonary embolism is more common in immunocompetent patients while splenic infarct is more common in immunocompromised patients. However, here we report a female patient on low-dose methotrexate for rheumatoid arthritis who presented with both pulmonary embolism and splenic infarct.

Chondroectodermal dysplasia: a rare syndrome.

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Dana Tahririan

2014-06-01

Full Text Available Chondroectodermal dysplasia (Ellis-Van Creveld syndrome is a rare autosomal recessive congenital abnormality. This syndrome is characterized by a spectrum of clinical findings, among which chondrodystrophy, polydactyly, ectodermal dysplasia, and congenital cardiac anomalies are the most common. It is imperative to not overlook the cardiac complications in patients with this syndrome during dental procedures. The case presented here, although quite rare, was detected under normal conditions and can be alarming for dental care providers. Clinical reports outline the classical and unusual oral and dental manifestations, which help health care providers diagnose chondroectodermal dysplasia, and refer patients with this syndrome to appropriate health care professionals to receive treatment to prevent further cardiac complications and bone deformities.

Polygenic determinants in extremes of high-density lipoprotein cholesterol.

Science.gov (United States)

Dron, Jacqueline S; Wang, Jian; Low-Kam, Cécile; Khetarpal, Sumeet A; Robinson, John F; McIntyre, Adam D; Ban, Matthew R; Cao, Henian; Rhainds, David; Dubé, Marie-Pierre; Rader, Daniel J; Lettre, Guillaume; Tardif, Jean-Claude; Hegele, Robert A

2017-11-01

HDL cholesterol (HDL-C) remains a superior biochemical predictor of CVD risk, but its genetic basis is incompletely defined. In patients with extreme HDL-C concentrations, we concurrently evaluated the contributions of multiple large- and small-effect genetic variants. In a discovery cohort of 255 unrelated lipid clinic patients with extreme HDL-C levels, we used a targeted next-generation sequencing panel to evaluate rare variants in known HDL metabolism genes, simultaneously with common variants bundled into a polygenic trait score. Two additional cohorts were used for validation and included 1,746 individuals from the Montréal Heart Institute Biobank and 1,048 individuals from the University of Pennsylvania. Findings were consistent between cohorts: we found rare heterozygous large-effect variants in 18.7% and 10.9% of low- and high-HDL-C patients, respectively. We also found common variant accumulation, indicated by extreme polygenic trait scores, in an additional 12.8% and 19.3% of overall cases of low- and high-HDL-C extremes, respectively. Thus, the genetic basis of extreme HDL-C concentrations encountered clinically is frequently polygenic, with contributions from both rare large-effect and common small-effect variants. Multiple types of genetic variants should be considered as contributing factors in patients with extreme dyslipidemia. Copyright © 2017 by the American Society for Biochemistry and Molecular Biology, Inc.

Reverse (posterior) cloaca with congenital rectal stenosis and pseudohermaphrodism: a rare entity with rare association

Science.gov (United States)

Ahmed, Intezar; Kureel, Shiv Narain; Chandra, Naveen

2010-01-01

Reverse (posterior) cloaca is itself a rare entity and association of this defect with other congenital syndromes or defects is extremely rare to find. To diagnose this unique anomaly one should be aware about this very infrequently encountered clinical entity. Reverse cloaca is a very rare variant of anorectal malformation in which urethra and vagina fused to form a urogenital sinus that diverts posteriorly and opens in the anterior rectal wall at the anus or immediately anterior to it. We report a neonate with the rare clinical entity of reverse cloaca type C, pseudophallus with rudimentary urethra as a component of female pseudohermaphrodism and congenital rectal stenosis. Surprisingly, there was no associated urological abnormality on ultrasonography and laparotomy. PMID:22797480

Angiomyolipoma and Malignant PEComa: Discussion of Two Rare Adrenal Tumors

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Douglas Kwazneski II

2016-01-01

Full Text Available Angiomyolipoma and PEComa are rare tumors descending from perivascular epithelial cells (PECs, with distinctive IHC, morphological, and ultrastructural features. The kidney is the most frequent site of origin, but not the only one; however, adrenal gland angiomyolipomas are extremely rare. We describe two cases being found in the adrenal glands. Given the paucity of literature on the subject, more information on this disease is necessary for diagnosis and treatment. Here, we describe two complete case reports, from presentation to treatment and follow-up, along with imaging and microscopic pathology samples, and provide a comprehensive review as to the history and current literature available regarding these extremely rare tumors.

Musculoskeletal manifestations of bacterial endocarditis

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Érika Bevilaqua Rangel

2000-09-01

Full Text Available CONTEXT: The incidence of staphylococcal infection has been increasing during the last 20 years. OBJECTIVE: Report a case of staphylococcal endocarditis preceded by musculoskeletal manifestations, which is a rare form of clinical presentation. DESIGN: Case report. CASE REPORT: A 45-year-old-man, without addictions and without known previous cardiopathy, was diagnosed as having definitive acute bacterial endocarditis due to Staphylococcus aureus. Its etiology was community-acquired, arising from a non-apparent primary focus. In addition, the musculoskeletal symptoms preceded the infective endocarditis (IE by about 1 month, which occurred together with other symptoms, e.g. mycotic aneurysms and petechiae. Later, the patient showed perforation of the mitral valve and moderate mitral insufficiency with clinical control.

Polygenic determinants in extremes of high-density lipoprotein cholesterol[S

Science.gov (United States)

Dron, Jacqueline S.; Wang, Jian; Low-Kam, Cécile; Khetarpal, Sumeet A.; Robinson, John F.; McIntyre, Adam D.; Ban, Matthew R.; Cao, Henian; Rhainds, David; Dubé, Marie-Pierre; Rader, Daniel J.; Lettre, Guillaume; Tardif, Jean-Claude

2017-01-01

HDL cholesterol (HDL-C) remains a superior biochemical predictor of CVD risk, but its genetic basis is incompletely defined. In patients with extreme HDL-C concentrations, we concurrently evaluated the contributions of multiple large- and small-effect genetic variants. In a discovery cohort of 255 unrelated lipid clinic patients with extreme HDL-C levels, we used a targeted next-generation sequencing panel to evaluate rare variants in known HDL metabolism genes, simultaneously with common variants bundled into a polygenic trait score. Two additional cohorts were used for validation and included 1,746 individuals from the Montréal Heart Institute Biobank and 1,048 individuals from the University of Pennsylvania. Findings were consistent between cohorts: we found rare heterozygous large-effect variants in 18.7% and 10.9% of low- and high-HDL-C patients, respectively. We also found common variant accumulation, indicated by extreme polygenic trait scores, in an additional 12.8% and 19.3% of overall cases of low- and high-HDL-C extremes, respectively. Thus, the genetic basis of extreme HDL-C concentrations encountered clinically is frequently polygenic, with contributions from both rare large-effect and common small-effect variants. Multiple types of genetic variants should be considered as contributing factors in patients with extreme dyslipidemia. PMID:28870971

Eosinophilic Pleural Effusion: A Rare Manifestation of Hypereosinophilic Syndrome

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Ndubuisi C. Okafor

2009-01-01

Full Text Available Several causes of eosinophilic pleural effusions have been described with malignancy being the commonest cause. Hypereosinophilic syndrome (HES is a rare disease and very few cases have been reported of HES presenting as eosinophilic pleural effusion (EPE. We report a case of a 26-year-old male who presented with shortness of breath. He had bilateral pleural effusions, generalized lymphadenopathy, splenomegaly, and leukocytosis with marked peripheral blood eosinophilia. The pleural fluid was exudative, with 25%–30% eosinophilis, and absence of neoplastic cells. Hypereosinophilic syndrome was diagnosed after other causes of eosinophilia were excluded. He continued to be dyspneic with persistent accumulation of eosinophilic pleural fluid, even after his peripheral eosinophil count had normalized in response to treatment. This patient represents a very unusual presentation of HES with dyspnea and pleural effusions and demonstrates that treatment based on response of peripheral eosinophil counts, as is currently recommended, may not always be clinically adequate.

Variable manifestations of dysplasia epiphysealis hemimelica

Energy Technology Data Exchange (ETDEWEB)

Azouz, E.M.; Slomic, A.M.; Marton, D.; Rigault, P.; Finidori, G.

1985-01-01

Dysplasia epiphysealis hemimelica (DEH) is an osteocartilaginous overgrowth involving one or multiple epiphyses or ossification centers, usually in a lower extremity on one side of the body. Characteristically the involvement is hemimelic, i.e., either the medial or lateral part of the ossification center is involved. The authors have studied 24 patients with DEH and are adding 15 new cases to the literature. Because of the variable manifestations of the dysplasia and its different degrees of involvement in the affected children, they have subdivided it into localized, classical and generalized. In the generalized form, there is involvement of a whole lower extremity from the pelvis to the foot, and some of these patients show megaepiphyses with enlargement of a whole epiphyseal center, not only its medial or lateral part. The authors have also described and illustrated other special features of the dysplasia especially the advanced bone age and the metaphyseal and growth plate involvement.

Ocular manifestations of Noonan syndrome in twin siblings: A case report of keratoconus with acute corneal hydrops

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Anna Lee

2014-01-01

Full Text Available Ocular manifestations of Noonan syndrome (NS in a set of healthy 20-year-old African-American fraternal twins are reported with emphasis on a rare finding of keratoconus with acute corneal hydrops in one twin. Both the twins had learning disabilities and attended a special needs school. Evaluation included visual acuity assessment, tonometry and external eye, slit lamp and dilated fundus examinations, topography with Pentacam and external photographs. The first case was more remarkable as keratoconus with acute corneal hydrops was observed. The patient presented with severe cloudy vision that had worsened over a span of 1 month. It improved significantly on follow-up. The second case included a unique constellation of ocular pathology that highlights the diversity of NS manifestations even amongst twins. Conservative treatment of keratoconus with acute corneal hydrops in a NS patient helped largely resolve the patient′s condition. We report the diverse spectrum of ocular manifestations associated with this rare congenital disorder.

Pelvic hydatid cyst with uncommon sciatalgia manifestation: a case report

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Ghodratolah Maddah

2013-11-01

Full Text Available Background: Hydatid disease or echinococcosis is a common parasitic disease of human and bovine, caused by infection with larva of the cestode echinococcus. Liver is the most common organ that is involved in this disease. Pelvic involvement and neurological symptoms, due to mass effect of pelvic involvement, in lower extremities are very uncommon manifestations of the disease.Case presentation: A forty six year old man was referred to clinic of surgery at Ghaem Hospital, Medical University of Mashhad, Iran. The patient complained about weakness and motor impairment in right lower extremity accompanied by numbness and radicular pain over past two months. Physical examination demonstrated muscular atrophy and reduced muscular strength in right lower extremity. Computed tomography and ultrasonographic studies showed a cystic mass in right side of the pelvic cavity with extention to the sciatic notch and another cystic mass in right gluteal region. Surgical operation revealed a cystic mass deep in pelvic cavity with the extention to the right sciatic notch with compression of nerve roots. The cystic mass was contained of daughter cysts which confirmed the diagnosis of hydatid cyst disease. This diagnosis was confirmed by pathologic assessment.Conclusion: Although uncommon, but hydatid disease can involve the pelvic cavity and make a pelvic, usually cystic, mass; that can make compression on nerve roots and so making neurologic symptoms in lower extremities. So in endemic areas for hydatid disease, such as Iran, pelvic hydatid cysts should be considered as a possible differential diagnosis in patients presenting with the sciatic pain and neurological manifestations in whom a pelvic mass has been found too.

Glomus tumor of penis- A rare case

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Madhuri S. Kate

2013-01-01

Full Text Available Glomus tumors are rare, painful, and benign soft tissue tumors of the skin arising from the glomus body, an arteriovenous thermoregulatory structure. This lesion is usually found on the extremities. Glomus tumor involving the external genital organs including penis is extremely rare. Until now, only few cases have been reported in the available literature. A 22 year old male patient presented with a painful nodule over the penis. The pathologic diagnosis was glomus tumor of the glans penis. We report herewith a case of glomus tumor of penis diagnosed on histopathologic examination. Glomus tumor, being a benign neoplasm, complete extirpation of the glomus tumor is the treatment of choice.

Magnetic properties of RT2Zn20; R = rare earth, T = Fe, Co, Ru, Rh, Os and Ir

International Nuclear Information System (INIS)

Jia, Shuang

2008-01-01

It is well known that rare earth intermetallic compounds have versatile, magnetic properties associated with the 4f electrons: a local moment associated with the Hund's rule ground state is formed in general, but a strongly correlated, hybridized state may also appear for specific 4f electronic configuration (eg. for rare earth elements such as Ce or Yb). On the other hand, the conduction electrons in rare earth intermetallic compounds, certainly ones associated with non hybridizing rare earths, usually manifest non-magnetic behavior and can be treated as a normal, non-interacted Fermi liquid, except for some 3d-transition metal rich binary or ternary systems which often manifest strong, itinerant, d electron dominant magnetic behavior. Of particular interest are examples in which the band filling of the conduction electrons puts the system in the vicinity of a Stoner transition: such systems, characterized as nearly or weakly ferromagnet, manifest strongly correlated electronic properties (Moriya, 1985). For rare earth intermetallic compounds, such systems provide an additional versatility and allow for the study of the behaviors of local moments and hybridized moments which are associated with 4f electron in a correlated conduction electron background.

Cutaneous manifestations of Churg-Strauss syndrome: key to diagnosis.

Science.gov (United States)

Marques, Camila Carneiro; Fernandes, Elizabeth Leocadia; Miquelin, Gabriela Momente; Colferai, Mariana Morais Tavares

2017-01-01

Churg-Strauss syndrome is a rare systemic vasculitis characterized by asthma and other allergy symptoms as well as eosinophilia and necrotizing vasculitis involving small and medium-sized vessels. Its prevalence in the general population ranges from 1-3 cases per million a year, varying according to the population studied. The authors describe a case of a female patient affected by the disease with important systemic manifestations and not very florid skin lesions.

Cutaneous manifestations of Churg-Strauss syndrome: key to diagnosis*

Science.gov (United States)

Marques, Camila Carneiro; Fernandes, Elizabeth Leocadia; Miquelin, Gabriela Momente; Colferai, Mariana Morais Tavares

2017-01-01

Churg-Strauss syndrome is a rare systemic vasculitis characterized by asthma and other allergy symptoms as well as eosinophilia and necrotizing vasculitis involving small and medium-sized vessels. Its prevalence in the general population ranges from 1-3 cases per million a year, varying according to the population studied. The authors describe a case of a female patient affected by the disease with important systemic manifestations and not very florid skin lesions. PMID:29267447

Primary tuberculosis of the breast manifested as abscess: a rare case report.

Science.gov (United States)

Gupta, Samita; Singh, Vikram J; Bhatia, Gaurav; Dhuria, Kshitiz

2014-01-01

Primary breast tuberculosis is a rare entity. We are reporting a case of primary breast tuberculosis, which presented as breast abscess. On histopathology, it was diagnosed as breast tuberculosis. Aspiration cytology was not done due breast abscess. Patient was put on anti-tubercular drugs. In follow up, after 3 months patient condition was improved.

Rare muon processes: Experiment

International Nuclear Information System (INIS)

Walter, H.K.

1998-01-01

The decay properties of muons, especially their rare decays, can be used to study very accurately deviations from the Standard Model. Muons with extremely low energies and good spatial definition are preferred for the majority of such studies. With the upgrade of the 590-MeV ring accelerator, PSI possesses the most powerful cyclotron in the world. This makes it possible to operate high-intensity beams of secondary pions and muons. A short review on rare muon processes is presented, concerning μ-e conversion and muonium-antimuonium oscillations. A possible new search for μ→eγ is also mentioned

Exceptional manifestation of polyautoimmunity in a very young girl – a case report

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Agnieszka Mroczkowska-Juchkiewicz

2017-05-01

Full Text Available Polyautoimmunity is defined as the presence of more than one autoimmune disease in a single patient. The exact pathogenic mechanisms responsible for the coexistence of distinct autoimmune diseases within an individual have not been clearly explained. We report a case of a very young girl with the extremely rare co-existence of four distinct autoimmune diseases i.e. juvenile idiopathic arthritis, type 1 diabetes mellitus, coeliac disease and autoimmune hepatitis, recognized based on validated international classification criteria. The best to our knowledge there has been no case reporting coexistence of these particular four disorders in an individual. Moreover, all these diseases occurred during first three years of life, which also cause that case unique. Molecular studies of human leukocyte antigen (HLA class II in our patient showed the presence of the HLA DRB1*01, HLA DRB1*03, HLA DQB1*02, HLA DQB1*05 molecules, which may suggest immunogenetic links between those autoimmune diseases. The presented case highlights the importance of active screening for other autoimmune diseases, if a patient with one autoimmune disease manifests with new or nonspecific symptoms.

Cavitatory mesenteric lymph node syndrome: A rare entity

International Nuclear Information System (INIS)

Vibhuti; Vishal, Kalia; Gill, Anakhvir

2010-01-01

Celiac disease is a gluten sensitive enteropathy that involves an abnormal immunological response to glutens in wheat, rye etc. It predominantly involves the small intestinal mucosa, though, extra luminal manifestations can also occur. One rare extraluminal manifestation is cavitatory mesenteric lymph node syndrome. It occurs in refractory celiac disease and is associated with poor prognosis due to various complications. The diagnosis is often made on imaging when cystic mesenteric lymph nodes with fat-fluid levels are seen and this can then be confirmed by histopathological examination. We recently had a typical case where we were able to make this diagnosis

The eye as a window to rare endocrine disorders

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Rupali Chopra

2012-01-01

Full Text Available The human eye, as an organ, can offer critical clues to the diagnosis of various systemic illnesses. Ocular changes are common in various endocrine disorders such as diabetes mellitus and Graves′ disease. However there exist a large number of lesser known endocrine disorders where ocular involvement is significant. Awareness of these associations is the first step in the diagnosis and management of these complex patients. The rare syndromes involving the pituitary hypothalamic axis with significant ocular involvement include Septo-optic dysplasia, Kallman′s syndrome, and Empty Sella syndrome all affecting the optic nerve at the optic chiasa. The syndromes involving the thyroid and parathyroid glands that have ocular manifestations and are rare include Mc Cune Albright syndrome wherein optic nerve decompression may occur due to fibrous dysplasia, primary hyperparathyroidism that may present as red eye due to scleritis and Ascher syndrome wherein ptosis occurs. Allgrove′s syndrome, Cushing′s disease, and Addison′s disease are the rare endocrine syndromes discussed involving the adrenals and eye. Ocular involvement is also seen in gonadal syndromes such as Bardet Biedl, Turner′s, Rothmund′s, and Klinefelter′s syndrome. This review also highlights the ocular manifestation of miscellaneous syndromes such as Werner′s, Cockayne′s, Wolfram′s, Kearns Sayre′s, and Autoimmune polyendocrine syndrome. The knowledge of these relatively uncommon endocrine disorders and their ocular manifestations will help an endocrinologist reach a diagnosis and will alert an ophthalmologist to seek specialty consultation of an endocrinologist when encountered with such cases.

Serous Carcinoma of the Uterine Cervix, an Extremely Rare Aggressive Entity: A Literature Review.

Science.gov (United States)

Jonska-Gmyrek, Joanna; Zolciak-Siwinska, Agnieszka; Gmyrek, Leszek; Michalski, Wojciech; Poniatowska, Grazyna; Fuksiewicz, Malgorzata; Wiechno, Pawel; Kucharz, Jakub; Kowalska, Maria; Kotowicz, Beata

2018-01-23

Serous carcinoma of the uterine cervix (USCC) is an extremely rare subtype. To establish the treatment strategy in patients with USCC is an important issue. MEDLINE (PubMed) was searched for all articles published after the first publication by Lurie et al. [Eur J Obstet Gynecol Reprod Biol 1991; 40: 79-81], reporting woman diagnosed with USCC. Because of limited numbers of studies on the topic of the study, we could not keep a restriction of eliminating smaller sample sizes. A search of PubMed demonstrated that 113 cases of USCC have been reported in the literature since the first publication. The current treatment modality adopted for early cervical cancer is hysterectomy with bilateral iliac-obturator lymphadenectomy and postoperative radiotherapy (RT) or radiochemotherapy (RT-CT) if risk factors for cervical carcinoma appear. The treatment strategy for locally advanced USCC is preoperative RT-CT or chemotherapy (CHTH) with the intention to treat the patient surgically. The treatment option for disseminated disease is CHTH with paclitaxel and carboplatin. Risk factors and a more advanced clinical stage of USCC have an impact on poor outcomes despite the use of standard treatment methods, adapted for cervical cancer. The outside-pelvic failures tend to seek effective systemic treatment. © 2018 S. Karger AG, Basel.

[Pulmonary Manifestations of Vasculitis].

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von Vietinghoff, S

2016-11-01

The variable symptoms and signs of pulmonary vasculitis are a diagnostic and therapeutic challenge. Vasculitis should be considered in rapidly progressing, severe and unusual manifestations of pulmonary disease. Clinical examination of other organ systems typically affected by vasculitis such as skin and kidney and autoantibody measurements are complementary approaches to manage this situation. Pulmonary involvement is common in small vessel vasculitis including anti-GBM disease (Goodpasture syndrome) and the ANCA-associated vasculitides. Life threatening pulmonary hemorrhage and irreversible damage of other organs, frequently the kidney, are important complications necessitating rapid diagnosis of these conditions.Vasculitides are rare diseases of multiple organs and therapies including biologics are evolving rapidly, requiring cooperation of specialities and with specialized centres to achieve best patient care. All involved physicians should be aware of typical complications of immunosuppressive therapy. © Georg Thieme Verlag KG Stuttgart · New York.

EXTREME SUBCULTURES: THEORETICAL AND METHODOLOGICAL ASPECTS OF THE STUDY

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Alexander Sergeevich Shulgin

2017-05-01

Practical implications. The results of the research can be used in the scientific and practical sphere, as well as to expand scientific knowledge about the sociocultural foundations and forms of manifestation of extreme in modern society.

Multisystem Radiologic Manifestations of Erdheim-Chester Disease

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Umairullah Lodhi

2016-01-01

Full Text Available Erdheim-Chester Disease is a rare form of multiorgan non-Langerhans’ cell histiocytosis that affects individuals between the ages of 50 and 70 with an equal distribution among males and females. It is associated with significant morbidity and mortality that is mostly due to infiltration of critical organs. Some of the sites that Erdheim-Chester Disease affects include the skeletal system, central nervous system, cardiovascular system, lungs, kidneys (retroperitoneum, and skin. The most common presenting symptom of Erdheim-Chester Disease is bone pain although a large majority of patients are diagnosed incidentally during a workup for a different disease process. Diagnosing Erdheim-Chester Disease is challenging due its rarity and mimicry to other infiltrative processes. Therefore, a multimodality diagnostic approach is employed with imaging being at the forefront. As of date, a comprehensive radiologic review of the manifestations of Erdheim-Chester Disease has rarely been reported. Here we present radiologic findings of an individual suffering from Erdheim-Chester Disease.

Orbital lymphomatoid granulomatosis - a rare cause of proptosis

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Du Toit, Jacqueline; Kilborn, Tracy [Department of Radiology, Red Cross Children' s Hospital, Rondebosch (South Africa); Eyssen, Ann van [Department of Oncology, Red Cross Children' s Hospital, Rondebosch (South Africa); Pillay, Komala [Department of Pathology, Red Cross Children' s Hospital, Rondebosch (South Africa)

2015-07-15

A 1-year-old girl with unilateral proptosis was found to have primary orbital lymphomatoid granulomatosis - a condition rarely occurring in children. This multisystem angiocentric, angiodestructive, lymphoproliferative disease typically involves the lungs, with ocular involvement being extremely uncommon. Our case serves to illustrate the imaging findings of this unusual condition and highlight a rare cause of proptosis. (orig.)

Rare earth elements and permanent magnets (invited)

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Dent, Peter C.

2012-04-01

Rare earth (RE) magnets have become virtually indispensible in a wide variety of industries such as aerospace, automotive, electronics, medical, and military. RE elements are essential ingredients in these high performance magnets based on intermetallic compounds RECo5, RE2TM17 (TM: transition metal), and RE2TM14B. Rare earth magnets are known for their superior magnetic properties—high induction, and coercive force. These properties arise due to the extremely high magnetocrystalline anisotropy made possible by unique 3d-4f interactions between transition metals and rare earths. For more than 40 years, these magnets remain the number one choice in applications that require high magnetic fields in extreme operating conditions—high demagnetization forces and high temperature. EEC produces and specializes in RECo5 and RE2TM17 type sintered magnets. Samarium and gadolinium are key RE ingredients in the powder metallurgical magnet production processes which include melting, crushing, jet milling, pressing, sintering, and heat treating. The magnetic properties and applications of these magnets will be discussed. We will also briefly discuss the past, current, and future of the permanent magnet business. Currently, over 95% of all pure rare earth oxides are sourced from China, which currently controls the market. We will provide insights regarding current and potential new magnet technologies and designer choices, which may mitigate rare earth supply chain issues now and into the future.

Speech-Language and swallowing manifestations and rehabilitation in an 11-year-old girl with MELAS syndrome.

Science.gov (United States)

Vandana, V P; Bindu, Parayil Sankaran; Sonam, Kothari; Taly, Arun B; Gayathri, N; Madhu, N; Sinha, S

2015-01-01

Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome is a rare mitochondrial disease. The available studies on MELAS syndrome are limited to evaluation of radiological, audiological, genetic, and neurological findings. Among the various neurological manifestations, speech-language and swallowing manifestations are less discussed in the literature. This report describes the speech-language and swallowing function in an 11-year-old girl with MELAS syndrome. The intervention over a period of 6 months is discussed.

Tree species traits but not diversity mitigate stem breakage in a subtropical forest following a rare and extreme ice storm.

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Karin Nadrowski

Full Text Available Future climates are likely to include extreme events, which in turn have great impacts on ecological systems. In this study, we investigated possible effects that could mitigate stem breakage caused by a rare and extreme ice storm in a Chinese subtropical forest across a gradient of forest diversity. We used Bayesian modeling to correct stem breakage for tree size and variance components analysis to quantify the influence of taxon, leaf and wood functional traits, and stand level properties on the probability of stem breakage. We show that the taxon explained four times more variance in individual stem breakage than did stand level properties; trees with higher specific leaf area (SLA were less susceptible to breakage. However, a large part of the variation at the taxon scale remained unexplained, implying that unmeasured or undefined traits could be used to predict damage caused by ice storms. When aggregated at the plot level, functional diversity and wood density increased after the ice storm. We suggest that for the adaption of forest management to climate change, much can still be learned from looking at functional traits at the taxon level.

Gastrointestinal symptomatology as first manifestation of systemic erythematous lupus

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Kovačević Zoran

2009-01-01

Full Text Available Background. Systemic lupus erithematodes (SLE is chronic, often febrile, multisystemic disease unknown origin and relapsing course which affects connective tissue of the skin, joints, kidney and serous membranes. Gastrointestinal manifestations are rarely the first sign of systemic lupus erythematosus. Case report. We presented a female patient, 35 years old, whose first symptoms of SLE were paralitic ileus (chronic intestinal pseudo-obstruction and polyserositis (pleural effusion and ascites. Except for high parameters of inflammation, leucopenia and thrombocytopenia, all immunological and laboratory tests for SLE were negative in the onset of the disease. During next six months the patient had clinical signs of paralitic ileus several times and was twice operated with progressive malabsorptive syndrome. The full picture of SLE was manifested seven months later associated with lupus nephritis. Treatment with cyclophosphamide, corticosteroids and total parenteral nutrition (30 days induced stable remission of the disease. Conclusion. The SLE can be initially manifested with gastroenterological symptoms without any other clinical and immunologic parameters of the disease. If in patients with SLE and gastrointestinal tract involvement malabsorption syndrom is developed, a treatment success depends on both immunosupressive therapy and total parenteral nutrition.

Pulmonary manifestations in anaphylactoid purpura (Henoch-Schoenlein syndrome)

International Nuclear Information System (INIS)

Fiegler, W.; Siemoneit, K.D.

1981-01-01

Pulmonary manifestations in anaphylactoid purpura (Henoch-Schoenlein-syndrome). Radiological observations are reported on 2 female adults with Henoch-Schoenlein-syndrome accompanied by reversible pulmonary disease. This form of anaphylaktoid purpura has rarely been reported until now. The pulmonary opacities are regarded as intraalveolar bleeding probably with edem and interstitial perivascular infiltrations. They developed at the same time as the skin lesions and are probably part of the disease. These pulmonary changes are characterized by the following radiological criteria: 1. parahilar, butterfly-shaped opacities, 2. air-bronchograms, 3. reticulo-nodular pattern, 4. rapid change. (orig.) [de

Rare (Earth Elements [score

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Camilo Méndez

2014-12-01

Full Text Available Rare (Earth Elements is a cycle of works for solo piano. The cycle was inspired by James Dillon’s Book of Elements (Vol. I-V. The complete cycle will consist of 14 pieces; one for each selected rare (earth element. The chosen elements are Neodymium, Erbium, Tellurium, Hafnium, Tantalum, Technetium, Indium, Dysprosium, Lanthanium, Cerium, Europium, Terbium, Yttrium and Darmstadtium. These elements were selected due to their special atomic properties that in many cases make them extremely valuable for the development of new technologies, and also because of their scarcity. To date, only 4 works have been completed Yttrium, Technetium, Indium and Tellurium.

Biochemical Manifestation of HIV Lipodystrophy Syndrome.

Science.gov (United States)

Ihenetu, Kenneth; Mason, Darius

2012-01-01

Highly active anti-retroviral therapy (HAART), including protease inhibitors (PI) have led to dramatic improvements in the quality and quantity of life in patients with acquired immunodeficiency syndrome (AIDS). However, a significant number of AIDS patients on HAART develop characteristic changes in body fat redistribution referred to as lipodystrophy syndrome (LDS). Features of LDS include hypertrophy in the neck fat pad (buffalo hump), increased fat in the abdominal region (protease paunch), gynecomastia and loss of fat in the mid-face and extremities. The aim of this paper is to review the current knowledge regarding this syndrome. This article reviews the published investigations on biochemical manifestation of HIV lipodystrophy syndrome. It is estimated that approximately 64% of patients treated with PI will experience this syndrome. Biochemically, these patients have increased triglycerides (Trig), total cholesterol (TC), low-density lipoprotein-cholesterol (LDL-C) and extremely low high-density lipoprotein-cholesterol (HDL-C). It is hoped that awareness of this syndrome would aid in early diagnosis and better patient management, possibly leading to a lower incidence of cardiovascular complications among these patients.

Plasma Cell Type of Castleman's Disease Involving Renal Parenchyma and Sinus with Cardiac Tamponade: Case Report and Literature Review

Energy Technology Data Exchange (ETDEWEB)

Kim, Tae Un; Kim, Suk; Lee, Jun Woo; Lee, Nam Kyung; Jeon, Ung Bae; Ha, Hong Gu; Shin, Dong Hoon [Pusan National University Yangsan Hospital, Pusan National University School of Medicine, Yangsan (Korea, Republic of)

2012-09-15

Castleman's disease is an uncommon disorder characterized by benign proliferation of the lymphoid tissue that occurs most commonly in the mediastinum. Although unusual locations and manifestations have been reported, involvement of the renal parenchyma and sinus, and moreover, manifestations as cardiac tamponade are extremely rare. Here, we present a rare case of Castleman's disease in the renal parenchyma and sinus that also accompanied cardiac tamponade.

Oral and periodontal manifestations associated with systemic sclerosis: A case series and review.

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Jagadish, Rekha; Mehta, Dhoom Singh; Jagadish, P

2012-04-01

Systemic sclerosis is a rare connective tissue disorder with a wide range of oral manifestations. This case series reports significant oral and periodontal changes and also makes an attempt to correlate oral and systemic findings in these patients which enable the clinician for a better diagnosis and evolve a comprehensive treatment plan. Six patients with a known diagnosis of systemic sclerosis were included. After obtaining the patient's informed consent, relevant medical history, oral manifestations including periodontal findings and oral hygiene index simplified index were recorded. In these patients, oral changes included restricted mouth opening and, resorption of the mandible. The periodontal changes observed were gingival recession, absence or minimal gingival bleeding on probing, and widened periodontal ligament space, radiographically. Patients with systemic sclerosis often show wide range of oral manifestations, which is of major concern for the dentist.

Oral and periodontal manifestations associated with systemic sclerosis: A case series and review

Directory of Open Access Journals (Sweden)

Rekha Jagadish

2012-01-01

Full Text Available Systemic sclerosis is a rare connective tissue disorder with a wide range of oral manifestations. This case series reports significant oral and periodontal changes and also makes an attempt to correlate oral and systemic findings in these patients which enable the clinician for a better diagnosis and evolve a comprehensive treatment plan. Six patients with a known diagnosis of systemic sclerosis were included. After obtaining the patient′s informed consent, relevant medical history, oral manifestations including periodontal findings and oral hygiene index simplified index were recorded. In these patients, oral changes included restricted mouth opening and, resorption of the mandible. The periodontal changes observed were gingival recession, absence or minimal gingival bleeding on probing, and widened periodontal ligament space, radiographically. Patients with systemic sclerosis often show wide range of oral manifestations, which is of major concern for the dentist.

Postoperative pyoderma gangrenosum: A rare complication after appendectomy

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G Faghihi

2015-01-01

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

Postoperative pyoderma gangrenosum: A rare complication after appendectomy

Science.gov (United States)

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

2015-01-01

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

Attribution of extreme rainfall from Hurricane Harvey, August 2017

NARCIS (Netherlands)

Van Oldenborgh, Geert Jan; Van Der Wiel, Karin; Sebastian, A.G.; Singh, Roop; Arrighi, Julie; Otto, Friederike; Haustein, Karsten; Li, Sihan; Vecchi, Gabriel; Cullen, Heidi

2017-01-01

During August 25-30, 2017, Hurricane Harvey stalled over Texas and caused extreme precipitation, particularly over Houston and the surrounding area on August 26-28. This resulted in extensive flooding with over 80 fatalities and large economic costs. It was an extremely rare event: the return

Early detection of multiple sclerosis: MR findings during the initial manifestations of multiple sclerosis

International Nuclear Information System (INIS)

Schoerner, W.; Baum, K.; Henkes, H.; Girke, W.; Felix, R.; Klinikum Rudolf Virchow, Berlin

1988-01-01

The MR results in 21 patients showing the initial manifestations of multiple sclerosis (MS) were compared with those in 45 patients with a long history of MS. As in the old cases, MR proved a very sensitive technique during the early manifestations, with abnormal findings in 20 out of 21 patients. The relatively characteristic MR findings in long-standing MS (predominant peri-ventricular involvement with a relatively typical pattern) was seen in the early stages is only rare cases. The value of MR during the initial manifestations of MS is in cases where the clinical findings are not conclusive and laboratory diagnosis (evoked potentials, CSF findings) are indefinite. In these patients the finding of multiple lesions in the brain can confirm the suspected diagnosis of MS. (orig.) [de

Necrotizing streptococcal myositis of the upper extremity: a case report.

Science.gov (United States)

Reichert, Johannes C; Habild, Götz; Simon, Paul; Nöth, Ulrich; Krümpelmann, Jan B

2017-08-15

Necrotizing myositis is a rare but life-threatening soft-tissue infection characterized by rapidly spreading inflammation and subsequent necrosis of the affected tissue. The myositis is often caused by toxin-producing, virulent bacteria such as group A β-hemolytic streptococcus and associated with severe systemic toxicity. It is rapidly fatal unless diagnosed promptly and treated aggressively. However, necrotizing myositis is often initially misdiagnosed as a more benign soft-tissue infection as such fulminant, invasive muscle infections are rare with no more than 30 cases reported over the last century. We illustrate the case of a 74-year-old male Caucasian initially presenting with a progressing swelling and gradually oncoming pain of the upper right extremity. Rapidly, livid discolorations of the skin, blisters, hypoesthesia and severe pain resistant to analgesics treatment developed accompanied by disruption of the arterial blood flow. Due to a manifest compartment syndrome the patient was admitted to theater for fasciotomy of the arm. After multiple revision surgeries wound closure was achieved using a pedicled, fasciocutaneous parascapular flap and a free, ipsilateral anterolateral thigh flap. Microbiological analysis revealed group A β-hemolytic streptococcus, histology a bacterial interstitial myositis with necrotic muscular fibers. A high degree of clinical suspicion is necessary to avert potentially disastrous consequences of necrotizing myositis. Timely diagnosis, broad-spectrum antibiotic therapy, and aggressive surgical debridement of affected tissue are keys to the treatment of this serious, often life-threatening infection.

Rare presentations of hyperthyroidism--Basedow's paraplegia and pancytopenia.

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Chen, Yi-Hsien; Lin, Hung-Jung; Chen, Kuo-Tai

2009-02-01

Typical presentations of hyperthyroidism are palpitation, nervousness, tremor, malaise, and weight loss. Hyperthyroidism affects nearly every system in the body, and some patients may manifest neurologic or hematologic symptoms. Atypical presentations of hyperthyroidism often pose a great challenge in diagnosis and treatment. We report a case of Basedow's paraplegia and pancytopenia that was precipitated by hyperthyroidism. The unusual manifestations led to unnecessary examinations and delayed the treatment of hyperthyroidism. The classical symptoms of Basedow's paraplegia are subacute symmetric weakness of the lower extremities with areflexia and sparing sensation or sphincter involvement. Control of the hyperthyroidism mitigated the neurologic and hematologic complications and prevented unnecessary studies.

Ergotamine-induced upper extremity ischemia: a case report

Energy Technology Data Exchange (ETDEWEB)

Kim, Man Deuk; Lee, Gun [Bundang CHA General Hospital, Pochon (China); Shin, Sung Wook [Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul (Korea, Republic of)

2005-06-15

Ergotamine-induced limb ischemia is an extremely rare case. We present a case of a 64-year-old man, who developed ischemia on the right upper extremity due to long-term use of Ergot for migraine headache. Angiography revealed diffused, smooth, and tapered narrowing of the brachial artery. The patient was successfully treated with intravenous nitroprusside.

Magnetic properties of RT₂Zn₂₀; R = rare earth, T = Fe, Co, Ru, Os and Ir

Energy Technology Data Exchange (ETDEWEB)

Jia, Shuang [Ames Lab. and Iowa State Univ., Ames, IA (United States)

2008-01-01

It is well known that rare earth intermetallic compounds have versatile, magnetic properties associated with the 4f electrons: a local moment associated with the Hund's rule ground state is formed in general, but a strongly correlated, hybridized state may also appear for specific 4f electronic configuration (eg. for rare earth elements such as Ce or Yb). On the other hand, the conduction electrons in rare earth intermetallic compounds, certainly ones associated with non hybridizing rare earths, usually manifest non-magnetic behavior and can be treated as a normal, non-interacted Fermi liquid, except for some 3d-transition metal rich binary or ternary systems which often manifest strong, itinerant, d electron dominant magnetic behavior. Of particular interest are examples in which the band filling of the conduction electrons puts the system in the vicinity of a Stoner transition: such systems, characterized as nearly or weakly ferromagnet, manifest strongly correlated electronic properties [Moriya, 1985]. For rare earth intermetallic compounds, such systems provide an additional versatility and allow for the study of the behaviors of local moments and hybridized moments which are associated with 4f electron in a correlated conduction electron background.

Variable ultrasonography findings of extremity lymphangioma: Pathologic correlation

International Nuclear Information System (INIS)

Oh, Jong Young; Nam, Kyung Jin; Lee, Ki Nam; Kim, Chan Sung; Lee, Jin Hwa; Kim, Dae Chul

2002-01-01

The great majority of lymphangiomas occur in the neck (75%) and axilla (20%), but extremity lymphangioma is rare. We correlate variable sonographic features of extremity lymphangioma with pathologic findings. We reviewed the sonographic findings of extremity lymphangioma in 14 patients (M:F=8:6). The all cases were histologically confirmed by operation. The variable sonographic features of extremity lymphangioma were compared to pathologic findings. The multilocular cystic mass with ill defined boundaries was distinctive sonographic appearance of extremity lymphangioma. But there were variable sonographic findings such as heterogeneous echogenic mass or homogeneous echogenic portion. The histologic section of echogenic lesion reveals clusters of abnormal

Focal neuronal gigantism: a rare complication of therapeutic radiation.

Science.gov (United States)

Gaughen, J R; Bourne, T D; Aregawi, D; Shah, L M; Schiff, D

2009-11-01

Radiation therapy, a mainstay in the treatment of many brain tumors, results in a variety of well-documented acute and chronic complications. Isolated cortical damage following irradiation represents an extremely rare delayed therapeutic complication, described only twice in the medical literature. We report this rare delayed complication in a patient following treatment of a right frontal anaplastic oligodendroglioma.

Seasonal Climate Extremes : Mechanism, Predictability and Responses to Global Warming

NARCIS (Netherlands)

Shongwe, M.E.

2010-01-01

Climate extremes are rarely occurring natural phenomena in the climate system. They often pose one of the greatest environmental threats to human and natural systems. Statistical methods are commonly used to investigate characteristics of climate extremes. The fitted statistical properties are often

Advanced MRI manifestations of trigeminal ganglioneuroma: a case report and literature review

International Nuclear Information System (INIS)

Deng, Xiaojuan; Fang, Jingqin; Luo, Qingya; Tong, Haipeng; Zhang, Weiguo

2016-01-01

Ganglioneuroma is a rare benign tumor originating from the sympathetic nerves, and its origination from the trigeminal nerves is even rarer. Only 4 cases of ganglioneuroma originating from the trigeminal nerve have previously been reported, and these studies only reported conventional MRI manifestations. To our knowledge, the advanced MRI features of trigeminal ganglioneuroma have not been reported thus far. This study reports a case of trigeminal ganglioneuroma in the left cerebellopontine angle. Advanced MRI showed the following tumor characteristics: significantly increased perfusion on perfusion imaging; isointense on diffusion-weighted imaging, whorled appearance within the tumor and no significant signs of damage to the white matter fiber tracts in the fractional anisotropy color map, and compare to the adjacent brain tissue, Choline didn’t show markedly elevation, and N-acetylaspartate peak showed slightly reduction on magnetic resonance spectroscopy. The tumor was completely resected, and the diagnosis of ganglioneuroma was confirmed by postoperative pathological examination. This case demonstrates the conventional as well as advanced MRI manifestations of this rare extra-axial tumor, which have never been previously reported. In addition, we reviewed the literature to demonstrate the advanced MRI features of trigeminal ganglioneuroma, in order to aid preoperative diagnosis and differentiation

A very bright SAR arc: implications for extreme magnetosphere-ionosphere coupling

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J. Baumgardner

2007-01-01

Full Text Available In contrast to the polar aurora visible during geomagnetic storms, stable auroral red (SAR arcs offer a sub-visual manifestation of direct magnetosphere-ionosphere (M-I coupling at midlatitudes. The SAR arc emission at 6300 Å is driven by field-aligned magnetospheric energy transport from ring current/plasmapause locations into the ionosphere-thermosphere system. The first SAR arc was observed at the dawn of the space age (1956, and the typical brightness levels and occurrence patterns obtained from subsequent decades of observations appear to be consistent with the downward heat conduction theory, i.e., heated ambient F-layer electrons excite oxygen atoms to produce a spectrally pure emission. On very rare occasions, a SAR arc has been reported to be at brightness levels visible to the naked eye. Here we report on the first case of a very bright SAR arc (~13 kilo-Rayleighs observed by four diagnostic systems that sampled various aspects of the sub-auroral domain near Millstone Hill, MA, on the night of 29 October 1991: an imaging spectrograph, an all-sky camera, an incoherent scatter radar (ISR, and a DMSP satellite. Simulations of emission using the ISR and DMSP data with the MSIS neutral atmosphere succeed in reproducing the brightness levels observed. This provides a robust confirmation of M-I coupling theory in its most extreme aeronomic form within the innermost magnetosphere (L~2 during a rare superstorm event. The unusually high brightness value appears to be due to the rare occurrence of the heating of dense ionospheric plasma just equatorward of the trough/plasmapause location, in contrast to the more typical heating of the less dense F-layer within the trough.

‘Smoke in the air’: a rare cerebrovascular cause of neurological signs and symptoms in a young adult

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Imtiaz Ismail

2015-06-01

Full Text Available Moyamoya disease is a rare neurological condition that affects children and adults of all ages. It is characterized by chronic, progressive stenosis of the circle of Willis that ultimately leads to the development of extensive collateral vessels. Presenting symptoms are usually due to cerebral ischemia or hemorrhage. The Japanese term moyamoya (meaning puffy or obscure was coined to describe the characteristic ‘smoke in the air’ appearance of these vessels on cerebral angiography. Moyamoya has the highest recorded incidence in Japan (0.28 per 100,000. In the west it is an extremely rare condition with an overall incidence of (0.086 per 100,000 in the Western United States. Etiology for the most part is unknown; however, genetic susceptibility related to RNF213 gene on chromosome 17q25.3 has been suggested. Moyamoya is being diagnosed more frequently in all races with varying clinical manifestations. Moyamoya disease is a rare progressive neurologic condition characterized by occlusion of the cerebral circulation with extensive collaterals recruitment in children and adults. Distinguished radiological findings confirm the diagnosis. Early recognition and swift institution of therapy is vital in order to minimize neurological deficits. We present the case of a 19-year-old African American female who presented with left-sided parastheia, weakness, and headache for 2 days duration.

Facial diplegia: etiology, clinical manifestations, and diagnostic evaluation

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Sefer Varol

2015-12-01

Full Text Available ABSTRACT Objective Facial diplegia (FD is a rare neurological manifestation with diverse causes. This article aims to systematically evaluate the etiology, diagnostic evaluation and treatment of FD. Method The study was performed retrospectively and included 17 patients with a diagnosis of FD. Results Patients were diagnosed with Guillain-Barré syndrome (GBS (11, Bickerstaff’s brainstem encephalitis (1, neurosarcoidosis (1, non-Hodgkin’s Lymphoma (1, tuberculous meningitis (1 herpes simplex reactivation (1 and idiopathic (1. In addition, two patients had developed FD during pregnancy. Conclusion Facial diplegia is an ominous symptom with widely varying causes that requires careful investigation.

Guillain Barre syndrome as a manifestation of neurological melioidosis

Directory of Open Access Journals (Sweden)

Rajesh Krovvidi

2013-01-01

Full Text Available Neurological melioidosis is a very rare and very few cases have been reported from India. Presentation is an extremely varied and as this disease is associated with high mortality, high index of suspicion is needed to diagnose and treat. In this context, we report a patient presenting as Guillain Barre syndrome evaluated as melioidosis.

Lower-Extremity Weakness in a Teenager Due to Thyrotoxic Periodic Paralysis.

Science.gov (United States)

Thornton, Matthew D

2017-04-01

Thyrotoxic hypokalemic paralysis is the hallmark of thyrotoxic periodic paralysis (TPP). TPP is a potentially deadly complication of hyperthyroidism that occurs because of rapid and dramatic intracellular shift of potassium. This transference results in severe hypokalemia and clinically manifests itself as muscle weakness or paralysis. This condition predominantly affects males of Asian descent, and its presentation can range from mild to severe, as seen in our case. We present the case of a 15-year-old Asian-American male who presented to a tertiary-care pediatric emergency department complaining of generalized weakness and flaccid paralysis of his lower extremities. The differential for such a complaint is extremely broad, and the symptoms can result from etiologies arising from the cerebral cortex, the spinal cord, peripheral nerves, the neuromuscular junction, or even the muscles themselves. Our patient was found to have an extremely low serum potassium concentration, as well as an electrocardiogram that revealed a prolonged QT interval and right bundle branch block. The etiology of these abnormalities and the patient's symptoms was found to be undiagnosed and uncontrolled hyperthyroidism from Grave's disease, which resulted in this dramatic presentation of thyrotoxic hypokalemic paralysis. WHY SHOULD AN EMERGENCY PHYSICIAN BE AWARE OF THIS?: This entity is common in Asia but still somewhat rare in the United States and other Western countries. Our case illustrates that careful history taking and a focused diagnostic evaluation, in conjunction with having an awareness of this disease, can help expedite diagnosis and management, as well as avoid unnecessary and potential harmful testing in the emergency department setting. Copyright © 2016 Elsevier Inc. All rights reserved.

Otorhinolaryngology manifestations secondary to oral sex.

Science.gov (United States)

Fernández-López, Claudia; Morales-Angulo, Carmelo

Over the last few years, oral and pharyngeal signs and symptoms due to oral sex have increased significantly. However, no review articles related to this subject have been found in the medical literature. The objective of our study was to identify otorhinolaryngological manifestations associated with orogenital/oroanal contact, both in adults and children, in the context of consensual sex or sexual abuse. We performed a review of the medical literature on otorhinolaryngological pathology associated with oral sex published in the last 20 years in the PubMed database. Otorhinolaryngological manifestations secondary to oral sex practice in adults can be infectious, tumoral or secondary to trauma. The more common signs and symptoms found in the literature were human papillomavirus infection (above all, condyloma acuminata and papilloma/condyloma), oral or pharyngeal syphilis, gonococcal pharyngitis, herpes simplex virus infection and pharyngitis from Chlamydia trachomatis. The incidence of human papillomavirus -induced oropharyngeal carcinoma has dramatically increased. In children past the neonatal period, the presence of condyloma acuminatus, syphilis, gonorrhoea or palatal ecchymosis (the last one, unless justified by other causes) should make us suspect sexual abuse. Sexual habits have changed in the last decades, resulting in the appearance of otorhinolaryngological pathology that was rarely seen previously. For this reason, it is important for primary care physicians to have knowledge about the subject to perform correct diagnosis and posterior treatment. Some sexual abuse cases in children may also be suspected based on the knowledge of the characteristic oropharyngeal manifestations secondary to them. Copyright © 2016 Elsevier España, S.L.U. and Sociedad Española de Otorrinolaringología y Cirugía de Cabeza y Cuello. All rights reserved.

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

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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.

Long-Term Climate Trends and Extreme Events in Northern Fennoscandia (1914–2013

Directory of Open Access Journals (Sweden)

Sonja Kivinen

2017-02-01

Full Text Available We studied climate trends and the occurrence of rare and extreme temperature and precipitation events in northern Fennoscandia in 1914–2013. Weather data were derived from nine observation stations located in Finland, Norway, Sweden and Russia. The results showed that spring and autumn temperatures and to a lesser extent summer temperatures increased significantly in the study region, the observed changes being the greatest for daily minimum temperatures. The number of frost days declined both in spring and autumn. Rarely cold winter, spring, summer and autumn seasons had a low occurrence and rarely warm spring and autumn seasons a high occurrence during the last 20-year interval (1994–2013, compared to the other 20-year intervals. That period was also characterized by a low number of days with extremely low temperature in all seasons (4–9% of all extremely cold days and a high number of April and October days with extremely high temperature (36–42% of all extremely warm days. A tendency of exceptionally high daily precipitation sums to grow even higher towards the end of the study period was also observed. To summarize, the results indicate a shortening of the cold season in northern Fennoscandia. Furthermore, the results suggest significant declines in extremely cold climate events in all seasons and increases in extremely warm climate events particularly in spring and autumn seasons.

Nodules on the Hair: A Rare Case of Mixed Piedra

OpenAIRE

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

2013-01-01

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.

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

Science.gov (United States)

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.

Stiff Person Syndrome: A Rare Neurological Disorder, Heterogeneous in Clinical Presentation and Not Easy to Treat

Directory of Open Access Journals (Sweden)

Susanne Buechner

2015-01-01

Full Text Available Background. Stiff person syndrome (SPS is a rare neurological disorder characterized by progressive rigidity of axial and limb muscles associated with painful spasms. SPS can be classified into classic SPS, paraneoplastic SPS, and SPS variants. Its underlying pathogenesis is probably autoimmune, as in most cases antibodies against glutamic acid decarboxylase (GAD are observed. Similarly, paraneoplastic SPS is usually linked to anti-amphiphysin antibodies. Treatment is based on drugs enhancing gamma-aminobutyric acid (GABA transmission and immunomodulatory agents. Case Series. Patient 1 is a 45-year-old male affected by the classic SPS, Patient 2 is a 73-year-old male affected by paraneoplastic SPS, and Patient 3 is a 68-year-old male affected by the stiff limb syndrome, a SPS variant where symptoms are confined to the limbs. Symptoms, diagnostic findings, and clinical course were extremely variable in the three patients, and treatment was often unsatisfactory and not well tolerated, thus reducing patient compliance. Clinical manifestations also included some unusual features such as recurrent vomiting and progressive dysarthria. Conclusions. SPS is a rare disorder that causes significant disability. Because of its extensive clinical variability, a multitask and personalized treatment is indicated. A clearer understanding of uncommon clinical features and better-tolerated therapeutic strategies are still needed.

Rarer in a Rare | Taksande | Annals of Medical and Health Sciences ...

African Journals Online (AJOL)

We hereby report a case of a young female who presented to us with the psychiatric complaints and refractory headache since her childhood. Therefore, we are reporting rarer (headache and neuropsychiatric) manifestations in the rare (moya moya) disease. Keywords: Headache, Moya moya, Neuropsychiatry, Stroke ...

Synovial Sarcoma-A Rare Tumor of the Larynx

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Ghodrat Mohammadi

2016-05-01

Full Text Available Introduction: Malignant mesenchymal tumors of the larynx are rare. One type of malignant mesenchymal tumor is synovial sarcoma with unknown histogenesis, which occurs predominantly in the lower extremities of young adults. The head and neck region is a relatively rare location. There are few cases of malignant mesenchymal tumors with laryngeal localization in literature.  Case Report: In this report, a new case in a 23-year-old man, which was referred with increasing hoarseness for eight months, and dysphagia, odynophagia, and dyspnea since nearly one year ago, is reported. Indirect laryngoscopy revealed a laryngeal submucosal mass. The patient was operated and the histopathological diagnosis of synovial sarcoma was confirmed by IHC (Immunohistochemisry.  Conclusion:  Synovial sarcoma occurs predominantly in the lower extremities of young adults. Because very few cases of laryngeal synovial sarcoma are reported, every new case will bring some new information about diagnosis and therapy. It is of utmost importance to get to know new aspects and therapeutical modalities of this rare tumor.

Lipofibromatous Hamartoma of the Plantar Nerve An Extremely Rare Localization.

Science.gov (United States)

Mert, Murat; Hacısalihoglu, Payam

2018-03-01

Lipofibromatous hamartoma (LFH) is a rare, benign, tumor-like soft-tissue lesion that affects the peripheral nerves and forms a palpable neurogenic mass. Lipofibromatous hamartoma is associated with pain and sensory and/or motor deficits in the area of innervation of the affected nerve. This report describes a rare case of LFH of the plantar nerve. A 48-year-old woman presented to our outpatient orthopedic clinic with pain and a burning sensation on her left foot. The patient had a history of Morton's neuroma and had undergone a tarsal tunnel operation 2 years earlier at another center. None of her symptoms was alleviated by two previous operations. Magnetic resonance imaging with contrast revealed tenosynovitis of the flexor hallucis longus tendon and signal changes at deep tissue planes of the foot at the levels of the second and third toes, on the dorsal site and subcutaneous soft-tissue planes, suggesting edema and Morton's neuroma. The lesion was excised under spinal anesthesia, and histopathologic examination of the specimen revealed a diagnosis of LFH. The patient was discharged without any symptoms and her foot was normal at 8-month outpatient follow-up, with no indications of postoperative complications and/or recurrence.

A case of membranous nephropathy as a manifestation of graft-versus-host disease

Directory of Open Access Journals (Sweden)

Jae Hyun Han

2013-03-01

Full Text Available Nephrotic syndrome (NS rarely occurs after hematopoietic stem cell transplantation (HSCT as a late manifestation of graft-versus-host disease (GVHD. Herein, we report a case of HSCT-associated membranous nephropathy in a female patient with aplastic anemia. The patient received an allogeneic HSCT from her human leukocyte antigen-identical brother following myeloablative conditioning chemotherapy. NS occurred 21 months after HSCT without any concurrent features of chronic GVHD. The patient was treated with prednisolone and cyclosporine after renal biopsy confirmed membranous nephropathy, and achieved complete remission. Our report contradicts previous assumptions that concomitant chronic GVHD is responsible for the development of NS, suggesting that NS can develop as a new, independent manifestation of GVHD.

Acquired ventricular septal defect: A rare sequel of blunt chest ...

African Journals Online (AJOL)

Ventricular septal defect (VSD) is the most common congenital cardiac lesion encountered worldwide. Only very rarely is it acquired, and causation through blunt injury in a child is extremely rare. A previously healthy 7‑year‑old boy suffered blunt chest trauma while at play. He presented 11 days later with features of acute ...

e-Manifest

Science.gov (United States)

This is the primary hub for those seeking information about the e-Manifest system, its advisory board, and its development. Once the system is complete this area will serve as the portal into the e-Manifest system from EPA webpages.

Are Centauro events a manifestation of an unusual type of phase transition

International Nuclear Information System (INIS)

Predazzi, E.; Beldiaga, I.; Curado, E.M.F.

1988-01-01

It is argued that the Centauro events found in cosmic rays by the brazilian-japonese collaboration could be the manifestation of an unusual phase transition in which a new ordered phase of quarks separated from antiquarks takes place at extremely high densities. This new phase should then be followed by yet another disordered phase which might correspond to freeing the quark components. (author) [pt

Scapulothoracic Dissociation: A Rare Variant: A Case Report

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Rajat Jangir

2014-07-01

Full Text Available Scapulothoracic dissociation is a rare injury involving separation of scapula from the thorax along with the upper extremity. Majority of the patients have concomitant neurovascular injury and the prognosis is uniformly poor in such cases. We present a case of scapulothoracic dissociation with comminuted fracture of scapula and acromioclavicular joint disruption without neurovascular deficit. There were associated avulsion fractures of the spinous processes of vertebrae (T3-T5. Such presentation is rare in an already rare scapulothoracic dissociation injury. A discussion regarding the probable mechanism of injury, management and prognosis is presented.

Tail-like Congenital Duplication of Lower Extremity (Extra Leg or ...

African Journals Online (AJOL)

2018-01-01

Jan 1, 2018 ... ABSTRACT. BACKGROUND: Congenital duplication of lower extremity, either complete or incomplete is extremely rare. Only 26 cases had been reported till 2010, of which only 5 cases had feature of complete duplication. Theories have been proposed that the cause of this abnormality includes maternal ...

Rare case of gastrointestinal stromal tumor of the anal canal

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Madhu Kumar

2013-01-01

Full Text Available Gastrointestinal stromal tumor (GIST is a rare mesenchymal neoplasm of the gastrointestinal tract. GIST of anal canal is very rare representing only 3% of all anorectal mesenchymal tumors. We report an extremely rare case of GIST of the anal canal in 60-years-old man with history of irregular bowel habits with dark colored stool mixed with blood and constipation from 6 month. Diagnosis was made on the basis of histomorphological and immunohistochemical examination.

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

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Hall MJ

2015-02-01

Full Text Available Michael J Hall,1 Julie Innocent,2 Christina Rybak,1 Colleen Veloski,3 Walter J Scott,4 Hong Wu,5 John A Ridge,4 John P Hoffman,4 Hossein Borghaei,2 Aruna Turaka,6 Mary B Daly1 1Department of Clinical Genetics, 2Department of Medical Oncology, 3Department of Internal Medicine, 4Department of Surgical Oncology, 5Department of Pathology, 6Department of Radiation Oncology, Fox Chase Cancer Center, Philadelphia, PA, USA 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

Cutaneous manifestations in patients with chronic renal failure on hemodialysis

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Udayakumar P

2006-01-01

Full Text Available Background: Chronic renal failure (CRF presents with an array of cutaneous manifestations. Newer changes are being described since the advent of hemodialysis, which prolongs the life expectancy, giving time for these changes to manifest. Aim: The aim of this study was to evaluate the prevalence of dermatologic problems among patients with chronic renal failure (CRF undergoing hemodialysis. Methods: One hundred patients with CRF on hemodialysis were examined for cutaneous changes. Results: Eighty-two per cent patients complained of some skin problem. However, on examination, all patients had at least one skin lesion attributable to CRF. The most prevalent finding was xerosis (79%, followed by pallor (60%, pruritus (53% and cutaneous pigmentation (43%. Other cutaneous manifestations included Kyrle′s disease (21%; fungal (30%, bacterial (13% and viral (12% infections; uremic frost (3%; purpura (9%; gynecomastia (1%; and dermatitis (2%. The nail changes included half and half nail (21%, koilonychia (18%, onychomycosis (19%, subungual hyperkeratosis (12%, onycholysis (10%, splinter hemorrhages (5%, Mees′ lines (7%, Muehrcke′s lines (5% and Beau′s lines (2%. Hair changes included sparse body hair (30%, sparse scalp hair (11% and brittle and lusterless hair (16%. Oral changes included macroglossia with teeth markings (35%, xerostomia (31%, ulcerative stomatitis (29%, angular cheilitis (12% and uremic breath (8%. Some rare manifestations of CRF like uremic frost, gynecomastia and pseudo-Kaposi′s sarcoma were also observed. Conclusions: CRF is associated with a complex array of cutaneous manifestations caused either by the disease or by treatment. The commonest are xerosis and pruritus and the early recognition of cutaneous signs can relieve suffering and decrease morbidity.

Leiomyoma of Testis –Rare Benign Mimicker of Testicular Malignancy

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Asif Baliyan

2017-10-01

Full Text Available Leiomyomas are benign tumours that originate from any organ containing smooth muscles. The testis is an extremely rare site. We report a case of testicular leiomyoma in a 50-year-old. Testis-associated leiomyomas are a benign and rare disease presenting as a painless, slowly-growing mass. Only histological examination with immunohistochemistry can validate the diagnosis.

Lyme Disease Manifestations in the Foot and Ankle: A Retrospective Case Series.

Science.gov (United States)

Miller, Jason R; Dunn, Karl W; Braccia, Domenick; Ciliberti, Louis J; Becker, Dina K; Hollinger, Joshua K; Brand, Shelley M

Lyme disease is the result of Borrelia burgdorferi bacterial infection after exposure from a tick bite. A pathognomonic finding in early-stage Lyme disease is an expanding, red macular ring known as erythema migrans. Lyme arthritis is a late-stage manifestation of this disease, affecting the large, weightbearing joints with intermittent pain and swelling. The existing data on Lyme disease and subsequent arthritis have reported manifestations in the lower extremity, primarily in the knee and ankle and less commonly the small joints of the foot. We present a retrospective case series of 11 cases of painful arthritis in the foot and ankle with confirmatory Lyme disease testing. Copyright © 2015 American College of Foot and Ankle Surgeons. Published by Elsevier Inc. All rights reserved.

Manifestations of Gorlin-Goltz syndrome.

Science.gov (United States)

Larsen, Anne Kristine; Mikkelsen, Dorthe Bisgaard; Hertz, Jens Michael; Bygum, Anette

2014-05-01

Gorlin-Goltz syndrome is an uncommon hereditary condition caused by mutations in the PTCH1 gene causing a wide range of developmental abnormalities. Multiple basal cell carcinomas, palmoplantar pits and jaw cysts are cardinal features. Many clinicians are unfamiliar with the different manifestations and the fact that patients are especially sensitive to ionizing radiation. This was a retrospective analysis of patients with Gorlin-Goltz syndrome seen at the Department of Dermatology and Allergy Centre or at Department of Plastic Surgery, Odense University Hospital, Denmark, in the period from 1994 to 2013. A total of 17 patients from eight families fulfilled the diagnostic criteria. In all, 14 patients had basal cell carcinomas, 12 patients had jaw cysts and ten patients had calcification of the falx cerebri. Other clinical features were frontal bossing, kyphoscoliosis, rib anomalies, coalitio, cleft lip/palate, eye anomalies, milia and syndactyly. In one family, medulloblastoma and astrocytoma occurred. Traditional treatment principles of basal cell carcinomas were used including radiotherapy performed in six patients. PTCH1 mutations were identified in five families and none of these mutations had previously been described. The patient cohort illustrates classic and rare disease manifestations. It is necessary to remind clinicians that radiation therapy in Gorlin-Goltz syndrome is relatively contraindicated. Today, mutation analysis can be used for confirmation of the diagnosis and for predictive genetic testing. Patients should be offered genetic counselling and life-long surveillance. not relevant. not relevant.

Primary Sjögren’s syndrome with polymyositis, a rare amalgamation

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Harpreet Singh

2018-01-01

Full Text Available Sjögren’s syndrome is characterized by diminished lacrimal and salivary gland secretory function. This disorder is not strictly confined to the exocrine glands and its manifestations may extend to extraglandular sites, such as the lungs, kidneys, reticuloendothelial system, and the musculoskeletal system. Although muscular manifestations are very common with Sjögren’s syndrome, true myopathy is very rare. Here, we report a case of a 45-year-old woman who presented with complaints of bilateral progressive weakness of upper and lower limbs associated with difficulty in neck holding with a history of dryness of the mouth and the eyes. The diagnosis of polymyositis associated with Sjögren’s syndrome was established on the basis of clinical picture and diagnostic tests. True polymyositis is very rare in primary Sjögren syndrome and there are scarcely any cases of primary Sjögren’s syndrome with polymyositis reported in the literature.

Two rare cases of laryngeal intralymphatic histiocytosis

DEFF Research Database (Denmark)

Reznitsky, Martin; Daugaard, Søren; Charabi, Birgitte Wittenborg

2016-01-01

We report two rare cases of intralymphatic histiocytosis causing, respectively, recurrent and persistent episodes of upper airway swelling and breathing difficulties. Case 1 was a 39-year-old man who was referred with recurrent upper airway swelling causing difficulty in breathing. A direct....... Extensive investigations were performed but discovered no abnormal findings. He received CO2 laser treatment twice and the swelling decreased. Intralymphatic histiocytosis is extremely rare in upper airway pathology. It is an important differential diagnosis in patients with recurrent and chronic laryngeal...

Imaging of systemic lupus erythematosus. Part I: CNS, cardiovascular, and thoracic manifestations

International Nuclear Information System (INIS)

Goh, Y.P.; Naidoo, P.; Ngian, G.S.

2013-01-01

Systemic lupus erythematosus (SLE) is a chronic, multisystem autoimmune disease that has a relapsing and remitting course. It has a wide range of non-specific symptoms with various organ manifestations. In 1982, the American College of Rheumatology (ACR) published the revised criteria for the classification of SLE. The diagnosis of SLE may be made if four or more of the 11 ACR criteria are present, either serially or simultaneously, during any interval of observation. Whilst the diagnosis of SLE is based on clinical and laboratory features, with no universally accepted radiological diagnostic criteria, imaging is nonetheless useful for diagnosing specific organ manifestations, monitoring disease progression, and identifying complications secondary to immunosuppressive therapy. In this review, we describe the spectrum of radiological findings of SLE in various organ systems and compile a list of organ manifestations including the most frequently occurring diseases as well as the rare but not-to-be-missed diseases. This review aims to serve as a concise reference tool in an endeavour to assist clinicians and radiologists in the diagnosis and monitoring of this disease. This pictorial review presents the various radiological findings of CNS, cardiovascular and thoracic manifestation of SLE. The gastrointestinal, renal and musculoskeletal systems will be covered in part II.

Xanthogranulomatous Prostatitis, a Rare Prostatic Entity

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Alejandro Noyola

2017-01-01

Full Text Available There are several benign prostatic pathologies that can clinically mimic a prostate adenocarcinoma. Xanthogranulomatous prostatitis is a benign inflammatory condition of the prostate and a rare entity. A 47-year old male, with 3 years of lower urinary tract symptoms, with a palpable hypogastric tumor, digital rectal examination: solid prostate, of approximately 60 g. Initial PSA was 0.90 ng/mL. He underwent surgical excision of the lower abdominal nodule and prostatectomy. Histopathology showed xanthogranulomatous prostatitis, without malignancy. Xanthogranulomatous prostatitis is an extremely rare entity that can simulate prostate adenocarcinoma, therefore having a correct histopathological diagnosis is essential.

A rare presentation of hydatid cyst

International Nuclear Information System (INIS)

Sabir, N.; Yildirim, B.; Alatas, E.; Cetin, B.

2005-01-01

Hydatid disease, although known to occur in most body areas, is extremely rare in the female reproductive system. There are different modes of presentation for the disease; however, we report and discuss a case presented with cystic vesicles passing through the vagina, which is considered as a rare presentation for secondary involvement of the uterus and both ovaries. We confirmed diagnosis with radiological examinations and serological tests. We operated on the patient, and studied the excised cysts microscopically. The gynecologist should be aware of hydatid cyst when vaginally passing a grape like vesicle is presented by the patient. (author)

Recurrent Hyponatremia as Presenting Manifestation of Pituitary Macroadenoma

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Rajput R.

2017-05-01

Full Text Available Hyponatremia is commonly seen electrolyte disturbance clinically. It is potentially life-threatening and requires prompt diagnosis and treatment. Non-functioning pituitary macroadenoma generally presents with a headache, visual disturbances, and the diagnosis is often delayed because of nonspecific nature of symptoms. Hyponatremia being initial manifestation before other common symptoms of pituitary macroadenoma is rare. We present a case of 55-year-old male with recurrent episodes of hyponatremia who was found to non-functioning pituitary macroadenoma along with panhypopituitarism. He was managed with hormone replacements. Our case highlights the importance of correct diagnosis of hyponatremia, measurement of the thyroid, adrenal and pituitary function in cases of hyponatremia.

Churg-Strauss syndrome: a case with unusual manifestations

International Nuclear Information System (INIS)

Restrepo, Mauricio; Gonzalez, Luis Alonso; Vasquez, Gloria

2008-01-01

Churg-Strauss syndrome, a necrotizing systemic vasculitis which involves the small and (more rarely) the medium-sized vessels, is a primary vasculitis strongly associated with anti neutrophil cytoplasm antibodies (ANCA). It is characterized by the presence of asthma, eosinophilia and extravascular eosinophilic granulomas. Herein, we report a 36-year-old woman with a history of late onset asthma and allergic rhinitis who developed central nervous system involvement, peripheral neuropathy, leucocytoclastic vasculitis and eosinophilia. Interestingly, unusual clinical manifestations of Churg-Strauss syndrome such as mesenteric micro aneurysms and jaw claudication were present in this particular patient. A brief review of the literature of Churg-Strauss syndrome is presented.

Enigmatic human tails: A review of their history, embryology, classification, and clinical manifestations.

Science.gov (United States)

Tubbs, R Shane; Malefant, Jason; Loukas, Marios; Jerry Oakes, W; Oskouian, Rod J; Fries, Fabian N

2016-05-01

The presence of a human tail is a rare and intriguing phenomenon. While cases have been reported in the literature, confusion remains with respect to the proper classification, definition, and treatment methods. We review the literature concerning this anatomical derailment. We also consider the importance of excluding underlying congenital anomalies in these patients to prevent neurological deficits and other abnormal manifestations. © 2016 Wiley Periodicals, Inc.

Rare metal granites in the structures of the Russian sector of Pacific ore belt

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В. И. Алексеев

2016-08-01

Full Text Available Data are presented on the geology of areas of rare metal granites proliferation in the Russian sector of the Pacific Ore Belt that make one take a fresh look at the East Asian granitoid area to update its metallogeny. History is reviewed of studying rare metal granites of the Russian Far East. As a rule, these are found in the vicinity of major tungsten-stanniferous ore deposits, except much later than discovering the former, at the stages of their assessment and survey. Rare earth granites are usually missed by the geologists during the early stages of regional geological surveys due to their small size, weak eroding and external similarity with earlier granites. Using the examples of the Central Polousny, Badzhal and Kuyviveem-Pyrekakay regions the structural and geological conditions are characterized of localization of rare metal granites. Comparative analysis of geological situations made it possible to formulate the areal character of manifestation of rare metal granites; their confinedness to late Mesozoic orogenic arched uplifts of bogen structures above deep granitoid batholiths; positioning in the areas where longitudinal and transversal deep laying faults cross; gravitation to the environs of pre-Cambrian median masses. Similarity of structural-geological conditions for manifestation of the well-studied ore-containing granites serves to confirm the hypothesis on the joint stage of late Cretaceous rare metal magmatism in the Russian sector of the Pacific Ore Belt and the existence in the region of a magmatic super-province – the Far East belt of rare metal granites that includes the Novosibirsk-Chukotka, the Yana-Kolyma and the Sikhote-Alin rare metal – granite provinces.

A very bright SAR arc: implications for extreme magnetosphere-ionosphere coupling

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J. Baumgardner

2008-01-01

Full Text Available In contrast to the polar aurora visible during geomagnetic storms, stable auroral red (SAR arcs offer a sub-visual manifestation of direct magnetosphere-ionosphere (M-I coupling at midlatitudes. The SAR arc emission at 6300 Å is driven by field-aligned magnetospheric energy transport from ring current/plasmapause locations into the ionosphere-thermosphere system. The first SAR arc was observed at the dawn of the space age (1956, and the typical brightness levels and occurrence patterns obtained from subsequent decades of observations appear to be consistent with the downward heat conduction theory, i.e., heated ambient F-layer electrons excite oxygen atoms to produce a spectrally pure emission. On very rare occasions, a SAR arc has been reported to be at brightness levels visible to the naked eye. Here we report on the first case of a very bright SAR arc (~13 kilo-Rayleighs observed by four diagnostic systems that sampled various aspects of the sub-auroral domain near Millstone Hill, MA, on the night of 29 October 1991: an imaging spectrograph, an all-sky camera, an incoherent scatter radar (ISR, and a DMSP satellite. Simulations of emission using the ISR and DMSP data with the MSIS neutral atmosphere succeed in reproducing the brightness levels observed. This provides a robust confirmation of M-I coupling theory in its most extreme aeronomic form within the innermost magnetosphere (L~2 during a rare superstorm event. The unusually high brightness value appears to be due to the rare occurrence of the heating of dense ionospheric plasma just equatorward of the trough/plasmapause location, in contrast to the more typical heating of the less dense F-layer within the trough.

A rare case of Charlin's syndrome

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Mohit P Singh

2017-01-01

Full Text Available Charlin's syndrome is an extremely rare condition characterized by pain in the nasal and paranasal areas, which is precipitated by touching the lateral aspect of the ipsilateral nostril. We are presenting one such case of a 42-year-old man who was admitted to Dr. Chaudhary Hospital and Medical Research Centre.

Cardiopulmonary manifestations of isolated pulmonary valve infective endocarditis demonstrated with cardiac CT.

Science.gov (United States)

Passen, Edward; Feng, Zekun

2015-01-01

Right-sided infective endocarditis involving the pulmonary valve is rare. This pictorial essay discusses the use and findings of cardiac CT combined with delayed chest CT and noncontrast chest CT of pulmonary valve endocarditis. Cardiac CT is able to show the full spectrum of right-sided endocarditis cardiopulmonary features including manifestations that cannot be demonstrated by echocardiography. Copyright © 2015 Society of Cardiovascular Computed Tomography. Published by Elsevier Inc. All rights reserved.

Intramuscular manifestation of non-Hodgkin lymphoma and myeloma: Prevalence, clinical signs, and computed tomography features

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Surov, Alexey; Spielmann, Rolf-Peter; Behrmann, Curd (Dept. of Radiology, Martin Luther Univ., Halle-Wittenberg (Germany)), e-mail: alex.surow@medizin.uni-halle.de; Holzhausen, Hans-Juergen (Dept. of Hematology/Oncology, Martin Luther Univ., Halle-Wittenberg (Germany)); Arnold, Dirk (Dept. of Pathology, Martin Luther Univ., Halle-Wittenberg (Germany)); Schmidt, Joerg (Dept. of Medical Statistics and Controlling, Martin Luther Univ., Halle-Wittenberg (Germany))

2010-01-15

Background: Intramuscular manifestations of malignant immuno proliferative diseases (IMMID) are very rare. Purpose: To determine the prevalence and the clinical features of IMMID in a large series of patients, and to analyze their radiological appearances. Material and Methods: Between 1997 and 2007, 20 patients with IMMID (non-Hodgkin lymphoma [NHL], n=14, and myeloma, n=6) were identified. All patients underwent computed tomography (CT). In five cases, magnetic resonance imaging (MRI) was additionally performed. Results: Clinically, 16 patients presented with local pain and soft-tissue swelling. In four patients, IMMID was found incidentally. The most common site was the erector spinae muscle, followed by the iliopsoas and pelvic muscles. In 13 cases of IMMID, diffuse mass-forming muscle infiltration was found. Focal intramuscular masses were identified in seven cases. Conclusion: NHL mostly manifests as diffuse muscle enlargement, whereas myelomas form focal intramuscular masses. Nevertheless, CT and MR appearances are nonspecific and can be misinterpreted as muscle sarcoma or inflammatory disease. Although rare, muscle involvement should be considered in the differential diagnosis of muscle disorders in patients with non-Hodgkin lymphoma and myeloma

Learn about the Hazardous Waste Electronic Manifest System (e-Manifest)

Science.gov (United States)

This webpage provides information on EPA's work toward developing a hazardous waste electronic manifest system. Information on the Hazardous Waste Electronic Manifest Establishment Act, progress on the project and frequent questions are available.

Neonatal Cushing Syndrome: A Rare but Potentially Devastating Disease.

Science.gov (United States)

Tatsi, Christina; Stratakis, Constantine A

2018-03-01

Neonatal Cushing syndrome (CS) is most commonly caused by exogenous administration of glucocorticoids and rarely by endogenous hypercortisolemia. CS owing to adrenal lesions is the most common cause of endogenous CS in neonates and infants, and adrenocortical tumors (ACTs) represent most cases. Many ACTs develop in the context of a TP53 gene mutation, which causes Li-Fraumeni syndrome. More rarely, neonatal CS presents as part of other syndromes such as McCune-Albright syndrome or Beckwith-Wiedemann syndrome. Management usually includes resection of the primary tumor with or without additional medical treatment, but manifestations may persist after resolution of hypercortisolemia. Published by Elsevier Inc.

Oral manifestations, dental management, and a rare homozygous mutation of the PRDM12 gene in a boy with hereditary sensory and autonomic neuropathy type VIII: a case report and review of the literature.

Science.gov (United States)

Elhennawy, Karim; Reda, Seif; Finke, Christian; Graul-Neumann, Luitgard; Jost-Brinkmann, Paul-Georg; Bartzela, Theodosia

2017-08-15

Hereditary sensory and autonomic neuropathy type VIII is a rare autosomal recessive inherited disorder. Chen et al. recently identified the causative gene and characterized biallelic mutations in the PR domain-containing protein 12 gene, which plays a role in the development of pain-sensing nerve cells. Our patient's family was included in Chen and colleagues' study. We performed a literature review of the PubMed library (January 1985 to December 2016) on hereditary sensory and autonomic neuropathy type I to VIII genetic disorders and their orofacial manifestations. This case report is the first to describe the oral manifestations, and their treatment, of the recently discovered hereditary sensory and autonomic neuropathy type VIII in the medical and dental literature. We report on the oral manifestations and dental management of an 8-month-old white boy with hereditary sensory and autonomic neuropathy-VIII over a period of 16 years. Our patient was homozygous for a mutation of PR domain-containing protein 12 gene and was characterized by insensitivity to pain and thermal stimuli, self-mutilation behavior, reduced sweat and tear production, absence of corneal reflexes, and multiple skin and bone infections. Oral manifestations included premature loss of teeth, associated with dental traumata and self-mutilation, severe soft tissue injuries, dental caries and submucosal abscesses, hypomineralization of primary teeth, and mandibular osteomyelitis. The lack of scientific knowledge on hereditary sensory and autonomic neuropathy due to the rarity of the disease often results in a delay in diagnosis, which is of substantial importance for the prevention of many complications and symptoms. Interdisciplinary work of specialized medical and dental teams and development of a standardized treatment protocols are essential for the management of the disease. There are many knowledge gaps concerning the management of patients with hereditary sensory and autonomic neuropathy

A Rare Clinical Presentation of Darier's Disease

Science.gov (United States)

Ferizi, Mybera; Begolli-Gerqari, Antigona; Luzar, Bostjan; Kurshumliu, Fisnik; Ferizi, Mergita

2013-01-01

Darier's disease, also known as keratosis follicularis or dyskeratosis follicularis, is a rare disorder of keratinization. It is an autosomal dominant genodermatosis with high penetrance and variable expressivity. Its manifestation appears as hyperkeratotic papules, primarily affecting seborrheic areas on the head, neck, and thorax and less frequently on the oral mucosa. When oral manifestations are present, the palatal and alveolar mucosae are primarily affected. They are usually asymptomatic and are discovered in routine dental examination. Histologically, the lesions are presented as suprabasal clefts in the epithelium with acantholytic and dyskeratotic cells represented by “corps ronds and grains”. This paper reports a case of a 53-year-old woman that was admitted to our clinic with more than 10-year history of keratotic papules, presented on the hands and feet, nose, ears, genitalia, and whitish lesions on palatal mucosae. PMID:23573430

Ulcerated Lesion of the Tongue as Manifestation of Systemic Coccidioidomycosis

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Luis A. Mendez

2017-01-01

Full Text Available Systemic mycoses and their oral manifestations are very rare. We present a case of a 60-year-old man with an ulcerated lesion on the lateral border of the tongue. Histologic studies revealed a granulomatous fungal infection by Coccidioides immitis. After pharmacological treatment, the lesion resolved. Recently, northern Mexico has been reported to be an endemic zone of C. immitis infections; therefore it should be considered in the differential diagnosis of mouth lesions. A comprehensive clinical history, physical exploration, and complementary studies are essential for an accurate diagnosis.

Ulcerated Lesion of the Tongue as Manifestation of Systemic Coccidioidomycosis

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Flores, Sergio A.; Martinez, Ricardo; de Almeida, Oslei Paes

2017-01-01

Systemic mycoses and their oral manifestations are very rare. We present a case of a 60-year-old man with an ulcerated lesion on the lateral border of the tongue. Histologic studies revealed a granulomatous fungal infection by Coccidioides immitis. After pharmacological treatment, the lesion resolved. Recently, northern Mexico has been reported to be an endemic zone of C. immitis infections; therefore it should be considered in the differential diagnosis of mouth lesions. A comprehensive clinical history, physical exploration, and complementary studies are essential for an accurate diagnosis. PMID:28386282

Metabolic and hormonal signatures in pre-manifest and manifest Huntington’s disease patients

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Rui eWang

2014-06-01

Full Text Available Huntington's disease (HD is an inherited neurodegenerative disorder typified by involuntary body movements, and psychiatric and cognitive abnormalities. Many HD patients also exhibit metabolic changes including progressive weight loss and appetite dysfunction. Here we have investigated metabolic function in pre-manifest and manifest HD subjects to establish an HD subject metabolic hormonal plasma signature. Individuals at risk for HD who have had predictive genetic testing showing the cytosine-adenine-guanine (CAG expansion causative of HD, but who do not yet present signs and symptoms sufficient for the diagnosis of manifest HD are said to be pre-manifest. Pre-manifest and manifest HD patients, as well as both familial and non-familial controls, were evaluated for multiple peripheral metabolism signals including circulating levels of hormones, growth factors, lipids and cytokines. Both pre-manifest and manifest HD subjects exhibited significantly reduced levels of circulating growth factors, including growth hormone and prolactin. HD-related changes in the levels of metabolic hormones such as ghrelin, glucagon and amylin were also observed. Total cholesterol, HDL-C and LDL-C were significantly decreased in HD subjects. C-reactive protein was significantly elevated in pre-manifest HD subjects. The observation of metabolic alterations, even in subjects considered to be in the pre-manifest stage of HD, suggests that in addition, and prior, to overt neuronal damage, HD affects metabolic hormone secretion and energy regulation, which may shed light on pathogenesis, and provide opportunities for biomarker development.

Fanconi anemia manifesting as a squamous cell carcinoma of the hard palate: a case report

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Di Petrillo Alessandro

2006-01-01

Full Text Available Abstract Fanconi Anemia is a rare autosomal recessive disorder characterized by various congenital malformations, progressive bone marrow failure at a very young age and of solid tumors development. The authors present a rare case of a squamous cell carcinoma of the hard palate in a Fanconi Anaemia patient. The atypical clinical manifestation rendered the diagnosis more difficult. This case, for age of appearance, sex and localization, is unique in international literature. We recommend a quarterly follow up of the oral-rhino-pharynx complex in FA patients and to consider as carcinomas, all oral lesions that last more than two weeks.

Parathyroid adenoma with concurrent toxic thyroid adenoma: A rare ...

African Journals Online (AJOL)

recognized phenomenon. Primary hyperparathyroidism due to parathyroid adenoma in association with thyroid adenoma is extremely rare. These cases can present a diagnostic and therapeutic challenge to the treating physician as the patient may ...

A Rare Seen Case Report: Sirenomelia

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Nilay Piskinpasa

2016-01-01

Full Text Available Sirenomelia is a rare congenital anomaly characterized by abnormal development of the caudal body structures.The disease can be diagnosed antenatally by the careful ultrasound examination. In this paper we aimed to discuss a case which had one lower extremity,spinal angulations and anhydramnios image detected by ultrasound examination.We diagnosed sirenomelia after termination.

Yellow nail syndrome – report of a rare disorder | Ikuabe | Highland ...

African Journals Online (AJOL)

Background: The Yellow Nail Syndrome (YNS) is a rare disorder of unknown cause characterized by the trail of yellow and thickened nails, lymphoedema and respiratory manifestation. We have no record of any case report of yellow nail syndrome in our setting. Methods: We reviewed the records of an 80 year old woman ...

A rare variant of first branchial cleft fistula.

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Ramnani, S; Mungutwar, V; Goyal, N K; Bansal, A

2009-12-01

We report an extremely rare variant of first branchial cleft anomaly. A 15-year-old girl presented with a history of recurrent mucopurulent discharge from an opening in the left infra-auricular region, since birth. Computed tomography fistulography showed a tortuous tract measuring approximately 4.61 cm, extending anteroinferiorly and medially from the external inframeatal opening to the lateral nasopharyngeal wall (anterior to the fossa of Rosenmuller). The tract was connected to the deep lobe of the parotid gland and lay 0.67 cm anterior to the carotid artery and posterior to the medial pterygoid muscle. This was an extremely rare variant of first branchial cleft fistula. To the best of our knowledge, this is the first case of its type to be reported. Computed tomography fistulography is the imaging modality of choice for the diagnosis of branchial cleft fistula, and will also assist surgical planning.

ASPERGILLOSIS OF MANDIBLE : A RARE CASE OF OSTEOMYELITIS

OpenAIRE

ÖZTÜRK, Nurdan; ERSOY, Burak; SÖNMEZ, Ahmet; ÇELEBİLER, Özhan; NUMANOĞLU, Ayhan

2007-01-01

Aspergillus species are saprophyticus fungi which may be the cause of infection predominantly in immunocompromised hosts. Aspergillosis is usually manifested in the respiratory system and bone involvement is rarely encountered. Osteomyelitis of the mandible with aspergillus species has been reported in only two cases in the literature. Treatment mainly consists of antimicrobial therapy in combination with surgery. We report a case of aspergillosis of the mandible in a patient who was under im...

A Rare Cause of Testicular Metastasis: Upper Tract Urothelial Carcinoma

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Alper Nesip Manav

2014-01-01

Full Text Available Metastatic testicular cancers are rare. Primary tumor sources are prostate, lung, and gastrointestinal tract for metastatic testicular cancers. Metastasis of urothelial carcinoma (UC to the testis is extremely rare. Two-thirds of upper tract urothelial carcinoma (UTUC is of invasive stage at diagnosis and metastatic sites are the pelvic lymph nodes, liver, lung, and bone. We report a rare case of metastatic UTUC to the testis which has not been reported before, except one case in the literature. Testicular metastasis of UC should be considered in patients with hematuria and testicular swelling.

OPHTHALMIC MANIFESTATIONS OF TAKAYASU ARTERITIS IN SOUTH INDIAN POPULATION

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Nandhini Arumugam

2017-06-01

Full Text Available BACKGROUND Takayasu arteritis is a chronic inflammatory vasculopathy mainly affecting the aorta and its main branches and rarely the pulmonary artery. It usually affects females of the childbearing age group and is more prevalent in the South East Asian countries. 1 Ocular manifestations are not uncommon in cases of Takayasu arteritis. They may be ischaemic ocular manifestations when aorta and its branches are involved and get stenosed or hypertensive retinopathy when renal or suprarenal aorta is involved. 2 Uyama and Asayama broadly classified the ocular manifestations into three types. 3 Type 1 comprised of the ischaemic ocular manifestations of Takayasu arteritis, termed as Takayasu Retinopathy which has been further classified into four stages. Stage one is characterised by the distention of veins, stage two consists of microaneurysm formation, occurrence of arteriovenous anastomoses indicates stage three and complications like retinal ischaemia, neovascularisation, rubeosis iridis and vitreous haemorrhage occurs in stage four. Type two ocular findings have features of mixed retinopathy and type three had retinal manifestations due to hypertension which occurs due to the involvement of the renal and abdominal aorta. Since this disease occurs predominantly in younger individuals it causes severe ocular morbidity in the young if not diagnosed and intervened at an early stage. The aim of this study was to evaluate the clinical spectrum of ocular findings in patients with Takayasu arteritis and to describe the Fundus Fluorescein angiographic characteristics of various retinal findings in patients with Takayasu arteritis. MATERIALS AND METHODS 63 patients who were diagnosed as Takayasu Arteritis who attended our tertiary eye care centre in the time period of November 2014 to march 2017 were included in our study. RESULTS This cross-sectional study consisted of 63 patients. The mean age of the presentation of the study population was 27.8 years

Solitary brain metastasis as an initial manifestation of gall bladder carcinoma

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Kamlesh Kumar Harsh

2015-01-01

Full Text Available Gallbladder cancer is a common malignancy in Northern India, and it accounts for 2-4% of all malignant gastrointestinal tumors. It is an aggressive tumor with early dissemination to liver and lymph nodes and associated with poor prognosis. Systemic metastases from gall bladder carcinoma (Ca frequently occur; however, metastatic involvement of the central nervous system is rare and late manifestation and remains an ominous sign. Initial presentation of gall bladder Ca with brain metastasis is rare. We report a case of 65-year-old women who initially presented with a solitary brain metastasis from an adenocarcinoma of the gallbladder, which was diagnosed incidentally when the patient presented with headache, vomiting, and right temporal region swelling. Palliative chemotherapy and cranial radiotherapy were prescribed. She is symptom-free from 3 months after the completion of the treatment.

Brothers with constrictive pericarditis – A novel mutation in a rare disease

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Devendra V. Patil

2016-09-01

Full Text Available Familial constrictive pericarditis is extremely rare. We report a case of two brothers both suffering constrictive pericarditis along with having multiple painless joint deformities. Genetic workup confirmed the clinical diagnosis of camptodactyly-arthropathy-coxa vara-pericarditis (CACP syndrome CACP syndrome and also revealed a rare mutation in the causative gene.

Extreme Weight-Control Behaviors and Suicide Risk among High School Students

Science.gov (United States)

Johnson, Emily R.; Weiler, Robert M.; Barnett, Tracey E.; Pealer, Lisa N.

2016-01-01

Background: Suicide is the third leading cause of death for people ages 15-19. Research has established an association across numerous risk factors and suicide, including depression, substance abuse, bullying victimization, and feelings of alienation. However, the connection between disordered eating as manifested in extreme weight-control…

Erythema multiforme like allergic contact dermatitis associated with laurel oil: a rare presentation.

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Uzuncakmak, Tugba Kevser; Karadag, Ayse Serap; Izol, Belcin; Akdeniz, Necmettin; Cobanoglu, Bengu; Taskin, Secil

2015-04-16

Allergic contact dermatitis is a common skin disease, which affects approximately 20% of the population. This reaction may present with several clinical manifestations. Erythema multiforme-like allergic contact dermatitis is a rare type of non-eczematous contact dermatitis, which may lead to difficulty in diagnosis.Essential oil of Laurus nobilis is widely used in massage therapy for antiinflammatory and analgesic effects. Laurus nobilis induced contact dermatitis has been reported in the literature but an erythema multiforme-like presentation is rare.

Fever of unknown origin as a presenting manifestation of craniopharyngioma in a child

OpenAIRE

NANDI, Madhumita; MONDAL, Rakesh

2010-01-01

An unusual case of cranio-pharyngioma which presented with prolonged fever described here. Investigation revealed that the child was suffering from leaking craniopharyngioma with hypo-pituitarism Fever was due to chemical meningitis following cranio-pharyngioma as evident from the CSF findings. Craniopharyngioma can cause prolonged or recurrent fever due to various reasons [1]. Prolonged fever as the sole manifestation of cranio-pharyngioma has been rarely reported in literature and this is p...

Oral and periodontal manifestations associated with systemic sclerosis: A case series and review

OpenAIRE

Rekha Jagadish; Dhoom Singh Mehta; P Jagadish

2012-01-01

Systemic sclerosis is a rare connective tissue disorder with a wide range of oral manifestations. This case series reports significant oral and periodontal changes and also makes an attempt to correlate oral and systemic findings in these patients which enable the clinician for a better diagnosis and evolve a comprehensive treatment plan. Six patients with a known diagnosis of systemic sclerosis were included. After obtaining the patient's informed consent, relevant medical history, oral mani...

Recommendations for the tuning of rare event probability estimators

International Nuclear Information System (INIS)

Balesdent, Mathieu; Morio, Jérôme; Marzat, Julien

2015-01-01

Being able to accurately estimate rare event probabilities is a challenging issue in order to improve the reliability of complex systems. Several powerful methods such as importance sampling, importance splitting or extreme value theory have been proposed in order to reduce the computational cost and to improve the accuracy of extreme probability estimation. However, the performance of these methods is highly correlated with the choice of tuning parameters, which are very difficult to determine. In order to highlight recommended tunings for such methods, an empirical campaign of automatic tuning on a set of representative test cases is conducted for splitting methods. It allows to provide a reduced set of tuning parameters that may lead to the reliable estimation of rare event probability for various problems. The relevance of the obtained result is assessed on a series of real-world aerospace problems

Coprecipitation of rare earth elements with hydroxyapatite

International Nuclear Information System (INIS)

Fujino, Osamu

1979-01-01

The distribution behavior of trace rare earth elements between an aqueous phase and hydroxyapatite crystals was investigated. The apatite prepared by adding phosphate ion extremely slowly to an aqueous solution containing calcium, rare earth elements, ethylenediamine and nitrilotriacetate ion at 80 0 C. Apparently the coprecipitation reaction seems to be anomalous, because the apparent distribution coefficient did not have a constant value through the reaction. But when the true distribution coefficient was calculated by using the thermodynamic data at 80 0 C, it was revealed that rare earth ions were coprecipitated obeying logarithmic distribution law. The true distribution coefficient values of trivalent yttrium, scandium, europium and cerium ions were about 10sup(7.3), 10sup(9.8), 10sup(7.4) and 10sup(6.5) respectively. (author)

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

Science.gov (United States)

Salhi, Houda

2016-01-01

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

Seizures as the first manifestation of chromosome 22q11.2 deletion syndrome in a 40-year old man: a case report

OpenAIRE

Tonelli, Adriano R; Kosuri, Kalyan; Wei, Sainan; Chick, Davoren

2007-01-01

Abstract Background The microdeletion of chromosome 22q11.2 is the most common human deletion syndrome. It typically presents early in life and is rarely considered in adult patients. As part of the manifestations of this condition, patients can have parathyroid glandular involvement ranging from hypocalcemic hypoparathyroidism to normocalcemia with normal parathryroid hormone levels. The first manifestation of the syndrome might be seizures due to profound hypocalcemia. Case presentation A 4...

Waardenburg syndrome: A rare case

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Shivlal M Rawlani

2018-01-01

Full Text Available Waardenburg Syndrome is a rare disorder of neural crest cell development. It is genetically inherited. Varying in prevalence from 1:42000 to 1:50,000, it compromises approximately 2-5% of congenital deaf children. The syndrome is not expressed in its complete form, in about 20% cases, which adds for its heterogenisity . Even among people affected in the same family,the features do vary. Unilateral heterochromia that manifests as lighter pigmentation of one iris is associated with Waardenburg syndrome and Parry-Romberg syndrome and less commonly with Hirschsprung disease. A case of ten yrs. old boy with a typical facial profile and hearing loss is reported.

Ticagrelor-Induced Angioedema: A Rare and Unexpected Phenomenon

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Rajeev Seecheran

2017-01-01

Full Text Available Angioedema can cause potentially life-threatening airway obstruction. This case report describes an exceedingly rare episode of ticagrelor-induced hypersensitivity reaction, manifesting as angioedema with periorbital and likely respiratory involvement. The heart team should be vigilant for this precarious condition which may require emergent airway management. Desensitization protocols and alternative regimens (e.g., clopidogrel, prasugrel, and addition of an adjunctive anticoagulant should be considered when there is an absolute indication for antiplatelet therapy.

Rosai-Dorfman disease manifesting as a solitary lesion of the radius in a 41-year-old woman

International Nuclear Information System (INIS)

George, J.; Stacy, G.; Peabody, T.; Montag, A.

2003-01-01

Rosai-Dorfman disease is a rare entity predominantly affecting children and young adults, characterized in 83-95% of cases by painless bilateral cervical lymphadenopathy. We report the unusual case of a 41-year-old woman with Rosai-Dorfman disease that presented as a solitary lesion of the radius without other clinical manifestations. (orig.)

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

Science.gov (United States)

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.

Stickler Syndrome Type 1 with Short Stature and Atypical Ocular Manifestations

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Manisha Goyal

2016-01-01

Full Text Available Stickler syndrome or hereditary progressive arthroophthalmopathy is a heterogeneous group of collagen tissue disorders, characterized by orofacial features, ophthalmological features (high myopia, vitreoretinal degeneration, retinal detachment, and presenile cataracts, hearing impairment, mild spondyloepiphyseal dysplasia, and/or early onset arthritis. Stickler syndrome type I (ocular form is caused by mutation in the COL2A1 gene. Ptosis and uveitis are relatively rare ophthalmological manifestations of this syndrome. We report an Indian boy having 2710C>T mutation in COL2A1 gene demonstrating short stature, ptosis, and uveitis with Stickler syndrome.

Characterization and prediction of extreme events in turbulence

Science.gov (United States)

Fonda, Enrico; Iyer, Kartik P.; Sreenivasan, Katepalli R.

2017-11-01

Extreme events in Nature such as tornadoes, large floods and strong earthquakes are rare but can have devastating consequences. The predictability of these events is very limited at present. Extreme events in turbulence are the very large events in small scales that are intermittent in character. We examine events in energy dissipation rate and enstrophy which are several tens to hundreds to thousands of times the mean value. To this end we use our DNS database of homogeneous and isotropic turbulence with Taylor Reynolds numbers spanning a decade, computed with different small scale resolutions and different box sizes, and study the predictability of these events using machine learning. We start with an aggressive data augmentation to virtually increase the number of these rare events by two orders of magnitude and train a deep convolutional neural network to predict their occurrence in an independent data set. The goal of the work is to explore whether extreme events can be predicted with greater assurance than can be done by conventional methods (e.g., D.A. Donzis & K.R. Sreenivasan, J. Fluid Mech. 647, 13-26, 2010).

Properties of Extreme Precipitation and Their Uncertainties in 3-year GPM Precipitation Radar Data

Science.gov (United States)

Liu, N.; Liu, C.

2017-12-01

Extreme high precipitation rates are often related to flash floods and have devastating impacts on human society and the environments. To better understand these rare events, 3-year Precipitation Features (PFs) are defined by grouping the contiguous areas with nonzero near-surface precipitation derived using Global Precipitation Measurement (GPM) Ku band Precipitation Radar (KuPR). The properties of PFs with extreme precipitation rates greater than 20, 50, 100 mm/hr, such as the geographical distribution, volumetric precipitation contribution, seasonal and diurnal variations, are examined. In addition to the large seasonal and regional variations, the rare extreme precipitation rates often have a larger contribution to the local total precipitation. Extreme precipitation rates occur more often over land than over ocean. The challenges in the retrieval of extreme precipitation might be from the attenuation correction and large uncertainties in the Z-R relationships from near-surface radar reflectivity to precipitation rates. These potential uncertainties are examined by using collocated ground based radar reflectivity and precipitation retrievals.

A Rare Clinical Presentation of Darier’s Disease

Directory of Open Access Journals (Sweden)

Mybera Ferizi

2013-01-01

Full Text Available Darier’s disease, also known as keratosis follicularis or dyskeratosis follicularis, is a rare disorder of keratinization. It is an autosomal dominant genodermatosis with high penetrance and variable expressivity. Its manifestation appears as hyperkeratotic papules, primarily affecting seborrheic areas on the head, neck, and thorax and less frequently on the oral mucosa. When oral manifestations are present, the palatal and alveolar mucosae are primarily affected. They are usually asymptomatic and are discovered in routine dental examination. Histologically, the lesions are presented as suprabasal clefts in the epithelium with acantholytic and dyskeratotic cells represented by “corps ronds and grains”. This paper reports a case of a 53-year-old woman that was admitted to our clinic with more than 10-year history of keratotic papules, presented on the hands and feet, nose, ears, genitalia, and whitish lesions on palatal mucosae.

Myxedema Coma with Reversible Cardiopulmonary Failure: a Rare Entity in 21St Century.

Science.gov (United States)

Dhakal, Prajwal; Pant, Manisha; Acharya, Pranab Sharma; Dahal, Sumit; Bhatt, Vijaya Raj

2015-09-01

Myxedema coma, a rare entity in 21st century in developed nations, is a decompensated phase of hypothyroidism with high mortality rates. We describe a young woman with myxedema, who developed respiratory failure, congestive heart failure and significant pericardial effusion, some of the uncommon manifestations. Decreased cardiac contractility can result in cardiomyopathy and heart failure. As illustrated by this case, myxedema can also result in significant pericardial effusion due to increased vascular permeability. Myxedema can further be complicated by alveolar hypoventilation and respiratory failure secondary to the lack of central drive as well as respiratory muscle weakness. Prompt therapy with thyroid hormone replacement, glucocorticoid therapy, aggressive supportive care and management of the precipitating event can save lives and reverse the cardiopulmonary symptoms, as in our patient. Hence, physicians should have a high index of suspicion for myxedema coma in patients with unexplained cardiopulmonary failure. Our report is, therefore, aimed at bringing awareness about the rare but fatal manifestations of myxedema coma.

Double Trouble: A Rare Case of Bilateral Upper Pole Ureteropelvic Junction Obstruction

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Craig A. Peters

2014-09-01

Full Text Available A 16-year-old girl presented with bilateral back pain caused by bilateral upper pole ureteropelvic junction obstructions; an extremely rare phenomenon. Bilateral robotically assisted upper pole pyeloplasties were preformed at the same setting with an excellent clinical response. Although rare, upper pole ureteropelvic junction obstruction is a defined entity that urologists should be aware of.

[Localized Scleroderma of Lower Extremities:Clinical and Magnetic Resonance Imaging Features].

Science.gov (United States)

Wang, Feng-dan; Wang, Hong-wei; Wu, Zhi-hong; Hou, Bo; Jiang, Bo; Zhang, Yan; Feng, Feng; Jin, Zheng-yu; Yuan, Xie

2015-08-01

To evaluate the clinical and musculoskeletal characteristics of localized scleroderma with lower extremities affected. All the localized scleroderma patients,who received magnetic resonance (MR ) examinations of affected lower extremities at Peking Union Medical College Hospital from April 2013 to June 2014,were retrospectively reviewed. Their clinical data and laboratory results of antinuclear antibody,anti-double stranded-DNA antibody, and anti-extractable nuclear antigen antibody were collected and analyzed. All the MR examinations were non-contrast imaging using Siemens Skyra 3.0T MR scanner. There were 16 localized scleroderma patients with lower extremities affected, 11 of whom were linear scleroderma, 4 generalized morphea, and 1 deep morphea. Female to male ratio was 1:2.2. The mean age was 22.5 years. The mean time span was 7.4 years. Four of the 14 patients (28.6%) who received antinuclear antibody test were positive. All the 10 patients who received anti-double stranded-DNA antibody test and the 7 patients who received anti-extractable nuclear antigen antibody test were negative. The most common musculoskeletal MR features were subcutaneous septal thickening (16/16) and fascial thickening (11/16). The thickened speta and fascia could either be hypointenstiy or hyperintensity on turbo inversion recovery magnitude/proton density weighted imaging. Other MR manifestations were intramuscular speta thickening (3/16), muscular abnormal signals (1/16), and bone marrow abnormal signals (2/16). Musculoskeletal manifestations of the lower extremities with localized scleroderma can be well revealed using MR imaging.

Computer tomography for rare soft tissue tumours of the extremities

International Nuclear Information System (INIS)

Boettger, E.; Semerak, M.; Stoltze, D.; Rossak, K.

1979-01-01

Five patients with undiagnosed soft tissue masses in the extremities were examined and in two a pathological diagnosis could be made. One was an extensive, invasive fibroma (desmoid) 22 cm long which could be followed from the thigh almost into the pelvis. It was sharply demarkated form the surrounding muscles and of higher density. The second case was a 12 cm long cavernous haemangioma in the semi-membranosus muscle. This was originally hypo-dense, but showed marked increase in its density after the administration of contrast. (orig.) [de

A Rare Case Series of Ischemic Stroke Following Russell’s Viper Snake Bite in India

Directory of Open Access Journals (Sweden)

Venkata Krishna Pothukuchi

2018-01-01

Full Text Available Snakebite is an important medical problem in India. Among their various manifestations, cerebral complications are uncommonly found in literature. Moreover, Ischemic stroke following snake bite is quite rare. Here we report a case series of two such cases that developed neurological manifestations following Russell’s viper bite. On computerized tomography (CT scan of brain; cerebral infarcts were revealed. Their likely mechanisms are discussed in present study which include disseminated intravascular coagulation, toxin induced vasculitis and endothelial damage.

Manifestation d'une folie épileptique : A propos d'un cas | Goumbri ...

African Journals Online (AJOL)

The epileptic fury is a rare psychological trouble, of an extreme violence which is translated by a demonstration of particularly violent driving agitation with a very marked tendency to the destruction, the subject spreading a strength multiplied tenfold far above its possibilities and which can lead to the murder. The authors ...

Testicular calculus: A rare case.

Science.gov (United States)

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.

Importance sampling of rare events in chaotic systems

DEFF Research Database (Denmark)

Leitão, Jorge C.; Parente Lopes, João M.Viana; Altmann, Eduardo G.

2017-01-01

space of chaotic systems. As examples of our general framework we compute the distribution of finite-time Lyapunov exponents (in different chaotic maps) and the distribution of escape times (in transient-chaos problems). Our methods sample exponentially rare states in polynomial number of samples (in......Finding and sampling rare trajectories in dynamical systems is a difficult computational task underlying numerous problems and applications. In this paper we show how to construct Metropolis-Hastings Monte-Carlo methods that can efficiently sample rare trajectories in the (extremely rough) phase...... both low- and high-dimensional systems). An open-source software that implements our algorithms and reproduces our results can be found in reference [J. Leitao, A library to sample chaotic systems, 2017, https://github.com/jorgecarleitao/chaospp]....

Retroperitoneal Haematoma in a Patient with Dengue Haemorrhagic Fever: A Rare Case Report.

Science.gov (United States)

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.

Isolated periostitis as a manifestation of systemic vasculitis in a child: imaging features

Energy Technology Data Exchange (ETDEWEB)

Cheon, Jung-Eun; Kim, In-One; Kim, Woo Sun; Yeon, Kyung Mo [Seoul National University College of Medicine and the Institute of Radiation Medicine, Department of Radiology, 101 Daehang-ro Jongro-gu, Seoul (Korea, Republic of)

2010-12-15

We report a case of isolated periostitis associated with Takayasu arteritis in a 10-year-old boy presenting with calf pain. Radiographs revealed a localized, thick periosteal reaction with irregular margin in the proximal left fibula. MRI revealed irregular thickening with enhancement of the periosteum in the proximal fibula and heterogeneous enhancement along vascular bundles in the calf. Isolated periostitis is a rare skeletal manifestation of systemic vasculitis that could be misdiagnosed as neoplastic or traumatic periosteal reaction. (orig.)

Computing return times or return periods with rare event algorithms

Science.gov (United States)

Lestang, Thibault; Ragone, Francesco; Bréhier, Charles-Edouard; Herbert, Corentin; Bouchet, Freddy

2018-04-01

The average time between two occurrences of the same event, referred to as its return time (or return period), is a useful statistical concept for practical applications. For instance insurances or public agencies may be interested by the return time of a 10 m flood of the Seine river in Paris. However, due to their scarcity, reliably estimating return times for rare events is very difficult using either observational data or direct numerical simulations. For rare events, an estimator for return times can be built from the extrema of the observable on trajectory blocks. Here, we show that this estimator can be improved to remain accurate for return times of the order of the block size. More importantly, we show that this approach can be generalised to estimate return times from numerical algorithms specifically designed to sample rare events. So far those algorithms often compute probabilities, rather than return times. The approach we propose provides a computationally extremely efficient way to estimate numerically the return times of rare events for a dynamical system, gaining several orders of magnitude of computational costs. We illustrate the method on two kinds of observables, instantaneous and time-averaged, using two different rare event algorithms, for a simple stochastic process, the Ornstein–Uhlenbeck process. As an example of realistic applications to complex systems, we finally discuss extreme values of the drag on an object in a turbulent flow.

Pseudo-Bartter syndrome as the sole manifestation of cystic fibrosis in a child with 711+G>T/IVS8-5T mutation: a new face of an old disease.

Science.gov (United States)

Tinsa, Faten; Hadj Fredj, Sondes; Bel Hadj, Imen; Khalsi, Fatma; Abdelhak, Sonia; Boussetta, Khadija; Messaoud, Taieb

2017-08-01

Pseudo-Bartter syndrome (PBS) describes an uncommon complication of cystic fibrosis leading to hypochloraemic, hypokalaemic metabolic alkalosis. PBS as the sole manifestation of cystic fibrosis in children is extremely rare and has never been described in patients carrying 5T variant. We report a clinical, biochemical and genetic study of a four year-old boy presenting a pseudo-Bartter syndrome as the sole manifestation of cystic fibrosis. All 27 exons and the flanking intron regions of the CFTR gene were analysed by PCR and direct sequencing. Direct sequencing was also used to analyse TG m T n and M470V polymorphisms in the patient and his parents. Two sweat tests were abnormal with elevated chloride levels at 78 and 88 mmol/L. DNA sequencing revealed a heterozygous mutation 711+1 G>T and an IVS8-T5 allele. The mutation 711+1 G>T is in trans with the IVS8-T5-TG11 allele and the child carried M470/V470 genotype. To the best of our knowledge, the genotype 711+1 G>T /IVS8-5T found in our patient is described for the first time. The role of TG11-5T-V470 allele in cases of cystic fibrosis with PB syndrome remains to be determined.

Seborrheic dermatitis eye lid involment (seborrheic blepharitis in children not a rare clinical observation

Directory of Open Access Journals (Sweden)

Anca Chiriac

2012-01-01

Full Text Available We present a typical case of seborrheic dermatitis, with no cutaneous manifestations, rarely reported in children, frequently misdiagnosed (especially by ophthalmologists, simply confirmed by microscopic examination of scales and with wonderful therapeutic results with antifungal agents (topical and/or systemic treatments.

The hidden Niemann-Pick type C patient : Clinical niches for a rare inherited metabolic disease

NARCIS (Netherlands)

Hendriksz, Christian J.; Anheim, Mathieu; Bauer, Peter; Bonnot, Olivier; Chakrapani, Anupam; Corvol, Jean-Christophe; de Koning, Tom J.; Degtyareva, Anna; Dionisi-Vici, Carlo; Doss, Sarah; Duning, Thomas; Giunti, Paola; Iodice, Rosa; Johnston, Tracy; Kelly, Dierdre; Kluenemann, Hans-Hermann; Lorenzl, Stefan; Padovani, Alessandro; Pocovi, Miguel; Synofzik, Matthis; Terblanche, Alta; Bergh, Florian Then; Topcu, Meral; Tranchant, Christine; Walterfang, Mark; Velten, Christian; Kolb, Stefan A.

2017-01-01

Background: Niemann-Pick disease type C (NP-C) is a rare, inherited neurodegenerative disease of impaired intracellular lipid trafficking. Clinical symptoms are highly heterogeneous, including neurological, visceral, or psychiatric manifestations. The incidence of NP-C is under-estimated due to

Hereditary hypohidrotic ectodermal dysplasia: report of a rare case.

Science.gov (United States)

Paramkusam, Geetha; Meduri, Venkateswarlu; Nadendla, Lakshmi Kavitha; Shetty, Namratha

2013-09-01

Hereditary Hypohidrotic Ectodermal Dysplasia (HHED), an X-linked, recessive, Mendelian character, is seen usually in males and it is inherited through female carriers. It is characterised by congenital dysplasia of one or more ectodermal structures and it is manifested by hypohidrosis, hypotrichosis and hypodontia. It results from abnormal morphogenesis of cutaneous and oral embryonic ectoderm. Here, we are presenting a rare case of HHED in a 19 year female with classic features of this condition.

INTRACRANIAL HYDATID DISEASE: IMAGING FINDINGS OF A RARE DISEASE

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idil Gunes Tatar

2014-06-01

Full Text Available Hydatid disease is caused by the larval stage of the parasite Echinococcus granulosus. It is mainly endemic in North African and Mediterranean countries. The disease usually manifests in liver and lungs although involvement of other organs are also seen. In this rare case intracranial hydatid disease in a 9-year-old female patient is presented with Magnetic Resonance Imaging findings. [J Contemp Med 2014; 4(2.000: 103-105

Os Odontoideum: Rare Cervical Lesion

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Kristie A Robson

2011-05-01

Full Text Available We report the case of a 22-year-old Marine who presented to the emergency department, after a martial arts exercise, with transient weakness and numbness in all extremities. Computed tomography cervical spine radiographs revealed os odontoideum. Lateral flexion–extension radiographs identified atlanto-axillary instability. This abnormality is rare and can be career ending for military members who do not undergo surgical fusion. [West J Emerg Med. 2011;12(4:520–522.

Overview of rare B-decays

CERN Document Server

Prisciandaro, Jessica

2017-01-01

Being extremely suppressed in the Standard Model, rare decays of heavy-flavoured particles are a powerful probe of New Physics, and allow to reach energies beyond those accessible through direct searches. Several new results have been obtained by the LHC experiments. In particular, $b \\to sl^+l^-$ transitions give access to a large spectrum of observables, which provide complementary information on possible New Physics contributions. In this sector, tensions with Standard Model predictions have been observed.

Insertion sequences enrichment in extreme Red sea brine pool vent

KAUST Repository

Elbehery, Ali H. A.; Aziz, Ramy K.; Siam, Rania

2016-01-01

Mobile genetic elements are major agents of genome diversification and evolution. Limited studies addressed their characteristics, including abundance, and role in extreme habitats. One of the rare natural habitats exposed to multiple

Neurothekeoma of petrous apex: A rare entity

Directory of Open Access Journals (Sweden)

Zarina Abdul Assis

2013-01-01

Full Text Available Intraosseous nerve sheath tumors are very rare tumors accounting for lesser than 0.2% of primary bone tumors. We present an 18-year-old female who presented with left facial paresis for the last 1 year. Magnetic resonance imaging (MRI demonstrated expansile, multiseptated, enhancing bony lesion in the left petrous apex. There was also abnormal enhancement of the 7-8 th nerve complex within the internal auditory canal. Tumor was excised by subtemporal extradural approach. The lesion was diagnosed as intraosseous neurothekeoma on histopathology. This is an extremely rare tumor and its MRI appearance in this location is being described for the first time in literature.

Ocular side effect of tinidazole: A rare case report

Directory of Open Access Journals (Sweden)

Hina Kauser

2014-01-01

Full Text Available Ocular side effects in the form of punctate epithelial erosions with the use of tinidazole - a 5-nitroimidazole group of drugs is very rare. A 32-year-old male was prescribed tablet tinidazole for the treatment of amoebiasis but developed adverse effects in the form of blisters on both upper and lower lips with itching and burning sensation, itching and burning on penile and anal area associated with punctate epithelial erosions of cornea of both the eyes. All these are rare manifestations but punctate epithelial erosions of cornea has never been reported in the literature so far. Punctate epithelial erosions of cornea have not previously been reported and should be added to the list of complications of tinidazole. Hence, this case is being reported .

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

Science.gov (United States)

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.

Cervical Fusion for Absent Pedicle Syndrome Manifesting with Myelopathy.

Science.gov (United States)

Goodwin, C Rory; Desai, Atman; Khattab, Mohamed H; Elder, Benjamin D; Bydon, Ali; Wolinsky, Jean-Paul

2016-02-01

Absent congenital pedicle syndrome is a posterior arch defect characterized by numerous congenital and mechanical abnormalities that result from disconnection of the anterior and posterior columns of the spinal canal. Absent congenital pedicle syndrome is a rare anomaly that is most commonly diagnosed incidentally, after evaluation of minor trauma, or after complaints of chronic neck pain. We report a case of absent congenital pedicle syndrome in a patient who presented with myelopathy and lower extremity weakness and review the literature on the surgical management of this entity. A 32-year-old woman with a history of systemic lupus erythematosus presented to the Neurosurgery Service with progressive weakness in her upper and lower extremities, clonus, and hyperreflexia. Magnetic resonance imaging revealed congenital absence of the pedicles of C2, C3, C4, C5, and C6 with a congenitally narrow canal at C4-5. The patient underwent a staged anterior and posterior cervical decompression and fusion. She was placed in a halo after surgery; at the 1-year follow-up, she was ambulatory with demonstrated improvement in weakness and fusion of her cervical spine. Absent congenital pedicle syndrome is rare, and most reported cases were treated conservatively. Surgical management is reserved for patients with myelopathy or instability. Copyright © 2016 Elsevier Inc. All rights reserved.

Rare diseases in clinical endocrinology: a taxonomic classification system.

Science.gov (United States)

Marcucci, G; Cianferotti, L; Beck-Peccoz, P; Capezzone, M; Cetani, F; Colao, A; Davì, M V; degli Uberti, E; Del Prato, S; Elisei, R; Faggiano, A; Ferone, D; Foresta, C; Fugazzola, L; Ghigo, E; Giacchetti, G; Giorgino, F; Lenzi, A; Malandrino, P; Mannelli, M; Marcocci, C; Masi, L; Pacini, F; Opocher, G; Radicioni, A; Tonacchera, M; Vigneri, R; Zatelli, M C; Brandi, M L

2015-02-01

Rare endocrine-metabolic diseases (REMD) represent an important area in the field of medicine and pharmacology. The rare diseases of interest to endocrinologists involve all fields of endocrinology, including rare diseases of the pituitary, thyroid and adrenal glands, paraganglia, ovary and testis, disorders of bone and mineral metabolism, energy and lipid metabolism, water metabolism, and syndromes with possible involvement of multiple endocrine glands, and neuroendocrine tumors. Taking advantage of the constitution of a study group on REMD within the Italian Society of Endocrinology, consisting of basic and clinical scientists, a document on the taxonomy of REMD has been produced. This document has been designed to include mainly REMD manifesting or persisting into adulthood. The taxonomy of REMD of the adult comprises a total of 166 main disorders, 338 including all variants and subtypes, described into 11 tables. This report provides a complete taxonomy to classify REMD of the adult. In the future, the creation of registries of rare endocrine diseases to collect data on cohorts of patients and the development of common and standardized diagnostic and therapeutic pathways for each rare endocrine disease is advisable. This will help planning and performing intervention studies in larger groups of patients to prove the efficacy, effectiveness, and safety of a specific treatment.

The rare isotope accelerator (RIA) facility project

International Nuclear Information System (INIS)

Christoph Leemann

2000-01-01

The envisioned Rare-Isotope Accelerator (RIA) facility would add substantially to research opportunities for nuclear physics and astrophysics by combining increased intensities with a greatly expanded variety of high-quality rare-isotope beams. A flexible superconducting driver linac would provide 100 kW, 400 MeV/nucleon beams of any stable isotope from hydrogen to uranium onto production targets. Combinations of projectile fragmentation, target fragmentation, fission, and spallation would produce the needed broad assortment of short-lived secondary beams. This paper describes the project's background, purpose, and status, the envisioned facility, and the key subsystem, the driver linac. RIA's scientific purposes are to advance current theoretical models, reveal new manifestations of nuclear behavior, and probe the limits of nuclear existence [3]. Figures 1 and 2 show, respectively, examples of RIA research opportunities and the yields projected for pursuing them. Figure 3 outlines a conceptual approach for delivering the needed beams

Extreme ultraviolet fluorescence spectroscopy of pure and core-shell rare gas clusters at FLASH

Energy Technology Data Exchange (ETDEWEB)

Schroedter, Lasse

2013-08-15

The interaction of rare gas clusters with short-wavelength radiation of free-electron lasers (FELs) has been studied extensively over the last decade by means of electron and ion time-of-flight spectroscopy. This thesis describes the design and construction of a fluorescence spectrometer for the extreme ultraviolet (XUV) spectral range and discusses the cluster experiments performed at FLASH, the Free-electron LAser in Hamburg. Fluorescence of xenon and of argon clusters was studied, both in dependence on the FEL pulse intensity and on the cluster size. The FEL wavelength was set to the giant 4d-resonance of xenon at 13.5 nm and the FEL pulse intensity reached peak values of 2.7.10{sup 15} W/cm{sup 2}. For xenon clusters, charge states of at least 11+ were identified. For argon, charge states up to 7+ were detected. The cluster-size dependent study revealed a decrease of the fluorescence yield per atom with increasing cluster size. This decrease is explained with the help of a geometric model. It assumes that virtually the entire fluorescence yield stems from shells of ions on the cluster surface, whereas ions in the cluster core predominantly recombine non-radiatively with electrons. However, the detailed analysis of fluorescence spectra from clusters consisting of a core of Xe atoms and a surrounding shell of argon atoms shows that, in fact, a small fraction of the fluorescence signal comes from Xe ions in the cluster core. Interestingly, these ions are as highly charged as the ions in the shells of a pure Xe cluster. This result goes beyond the current understanding of charge and energy transfer processes in these systems and points toward the observation of ultrafast charging dynamics in a time window where mass spectrometry is inherently blind. (orig.)

Extreme ultraviolet fluorescence spectroscopy of pure and core-shell rare gas clusters at FLASH

International Nuclear Information System (INIS)

Schroedter, Lasse

2013-08-01

The interaction of rare gas clusters with short-wavelength radiation of free-electron lasers (FELs) has been studied extensively over the last decade by means of electron and ion time-of-flight spectroscopy. This thesis describes the design and construction of a fluorescence spectrometer for the extreme ultraviolet (XUV) spectral range and discusses the cluster experiments performed at FLASH, the Free-electron LAser in Hamburg. Fluorescence of xenon and of argon clusters was studied, both in dependence on the FEL pulse intensity and on the cluster size. The FEL wavelength was set to the giant 4d-resonance of xenon at 13.5 nm and the FEL pulse intensity reached peak values of 2.7.10 15 W/cm 2 . For xenon clusters, charge states of at least 11+ were identified. For argon, charge states up to 7+ were detected. The cluster-size dependent study revealed a decrease of the fluorescence yield per atom with increasing cluster size. This decrease is explained with the help of a geometric model. It assumes that virtually the entire fluorescence yield stems from shells of ions on the cluster surface, whereas ions in the cluster core predominantly recombine non-radiatively with electrons. However, the detailed analysis of fluorescence spectra from clusters consisting of a core of Xe atoms and a surrounding shell of argon atoms shows that, in fact, a small fraction of the fluorescence signal comes from Xe ions in the cluster core. Interestingly, these ions are as highly charged as the ions in the shells of a pure Xe cluster. This result goes beyond the current understanding of charge and energy transfer processes in these systems and points toward the observation of ultrafast charging dynamics in a time window where mass spectrometry is inherently blind. (orig.)

Metasomatic zoning at some stratiform rare metal deposits

International Nuclear Information System (INIS)

Altyntsev, Yu.V.; Bazhenov, M.I.; Bepeshov, G.V.; Komarnitskij, G.M.; Petrov, I.Ya.; Serykh, A.S.

1985-01-01

Metasomatic zoning of stratiform deposits of rare metals (Mo, Pb, As, V, Se, U, etc.) in intermontane depresions, deposited at the postorogenic stage of Paleozoic geosyncline region development, is considered. Geochemical and geophysical characteristics of metasomatic zoning in the case of sloping and steep rock deposition are given. It is established, that in rare metal deposits in variegated deposits of molassoid formation of Middle-Upper Paleozoic the external and internal zones of metasomatic alterations are distinctly separated. The external zone is presented by mineral association: quartz + -albile + -calcite + -epidote; the internal one - by hydromica + -chlorite + -analcite, laumontite + -hematite + -ankerite + -kaolinite. Geochemical zoning is manifested quite regularly at all the deposits and it is subjected to metasomatic zoning. Changes in physical properties of rocks reflect the metasomatic zoning. The character of metasomatic alterations of rocks, geochemical zoning of metasomatites at rare metal deposits in molassoid deposits and spatially contiguous deposits in volcanogenic complexes have common features. A supposition is made on polygenic ore formation in sedimentary rocks of the depressions

Synovial sarcoma of primary bone origin: a rare case in a rare site with atypical features

International Nuclear Information System (INIS)

Jung, Seung Chai; Choi, Jung-Ah; Lee, Joon Woo; Kang, Heung Sik; Chung, Jin-Haeng; Oh, Joo Han

2007-01-01

Synovial sarcoma of bone origin is extremely rare and difficult to diagnose. We present a case in which the lesion arose in the cortex of the distal tibia. It showed heterogeneous intermediate signal intensity on T1-weighted images and heterogeneous intermediate to low signal intensity on T2-weighted images with heterogeneous contrast enhancement on MRI. The lesion was confirmed as synovial sarcoma using a combination of histological and molecular genetic studies. (orig.)

Cerebrotendinous xanthomatosis (a rare lipid storage disorder): a case report

OpenAIRE

Razi, Syed Mohd; Gupta, Abhinav Kumar; Gupta, Deepak Chand; Gutch, Manish; Gupta, Keshav Kumar; Usman, Syeda Iqra

2016-01-01

Background Cerebrotendinous xanthomatosis is a very rare autosomal recessive lipid storage disorder affecting bile acid biosynthesis. It is manifested by subtle neurological and non-neurological symptoms due to abnormal tissue lipid deposition. Diagnosis is usually delayed but early diagnosis and replacement therapy can prevent devastating neurological sequelae. Case presentation We present a case of a 25-year-old Asian Indian woman who presented with gait difficulty, fusiform swellings of bi...

Rare case of acute dengue encephalitis with correlated MRI findings

International Nuclear Information System (INIS)

Mathew, Rishi Philip; Basti, Ram Shenoy; Hegde, Pavan; Devdas, Jaidev M.; Khan, Habeeb Ullah; Bukelo, Mario Joseph

2014-01-01

Dengue encephalitis is extremely rare, with most patients showing no significant abnormality on neuroimaging (CT/MRI). We report one of the very few documented cases of dengue encephalitis, with abnormal signal intensities on all major sequences on brain MRI.

Teratoid Wilms′ tumor - A rare renal tumor

Directory of Open Access Journals (Sweden)

Biswanath Mukhopadhyay

2011-01-01

Full Text Available Teratoid Wilms′ tumor is an extremely rare renal tumor. We report a case of unilateral teratoid Wilms′ tumor in a 4-year-old girl. The patient was admitted with a right-sided abdominal mass. The mass was arising from the right kidney. Radical nephrectomy was done and the patient had an uneventful recovery. Histopathology report showed teratoid Wilms′ tumor.

Fever of unknown origin as a presenting manifestation of craniopharyngioma in a child

Directory of Open Access Journals (Sweden)

Madhumita Nandi and Rakesh Kumar Mondal

2010-01-01

Full Text Available An unusual case of cranio-pharyngioma which presented with prolonged fever described here. Investigation revealed that the child was suffering from leaking craniopharyngioma with hypo-pituitarism Fever was due to chemical meningitis following cranio-pharyngioma as evident from the CSF findings. Craniopharyngioma can cause prolonged or recurrent fever due to various reasons. Prolonged fever as the sole manifestation of cranio-pharyngioma has been rarely reported in literature and this is probably first such report in Indian children.

Hyperthyroidism as a clinical manifestation of a embryonal carcinoma of the testis.

Science.gov (United States)

Arrabal-Polo, M A; Jimenez-Pacheco, A; Arrabal-Martin, M; Moreno-Jimenez, J; Gutierrez-Tejero, F; Galisteo-Moya, R; Zuluaga-Gomez, A

2012-01-01

This case report describes a case of hyperthyroidism as manifestation of an embryonal carcinoma, and illustrates the causes that led to it. The case describes a 33-year-old male patient who complained of chest pain, palpitations, mild dyspnoea, and weight loss. Blood analysis reveals high levels of human chorionic gonadotropin (833818 mlU/ml), T3 (16.90 pg/ml), and T4 (7.77 ng/dl), as well as a fall of TSH (0.01 ulU/ml). Physical examination and imaging procedures confirm the occurrence of a left testicular tumour associated with numerous lung, hepatic and retroperitoneal metastases. Treatment with carbimazol and propanolol is established to manage hyperthyroidism, and an urgent orchiectomy is performed; the histologic diagnosis confirms an embryonal carcinoma (organoid type), but the patient died unexpectedly 24 hours later after having suffered sudden dyspnoea, tachypnoea, and tachyarrhythmia. Hyperthyroidism is a rare manifestation of a testicular tumour that should be borne in mind with regard to the patient's symptomatology and HCG levels.

Antibody-Mediated Extreme Insulin Resistance: A Report of Three Cases.

Science.gov (United States)

Kim, Han Na; Fesseha, Betiel; Anzaldi, Laura; Tsao, Allison; Galiatsatos, Panagis; Sidhaye, Aniket

2018-01-01

Type 2 diabetes mellitus is characterized by relative insulin deficiency and insulin resistance. Features suggesting severe insulin resistance include acanthosis nigricans, hyperandrogenism, weight loss, and recurrent hospital admissions for diabetic ketoacidosis. In rare circumstances, hyperglycemia persists despite administration of massive doses of insulin. In these cases, it is important to consider autoimmune etiologies for insulin resistance, such as type B insulin resistance and insulin antibody-mediated extreme insulin resistance, which carry high morbidity and mortality if untreated. Encouragingly, immunomodulatory regimens have recently been published that induce remission at high rates. We describe 3 cases of extreme insulin resistance mediated by anti-insulin receptor autoantibodies or insulin autoantibodies. All cases were effectively treated with an immunomodulatory regimen. Although cases of extreme insulin resistance are rare, it is important to be aware of autoimmune causes, recognize suggestive signs and symptoms, and pursue appropriate diagnostic evaluation. Prompt treatment with immunomodulators is key to restoring euglycemia in patients with autoimmune etiologies of insulin resistance. Copyright © 2018 Elsevier Inc. All rights reserved.

Extreme event statistics in a drifting Markov chain

Science.gov (United States)

Kindermann, Farina; Hohmann, Michael; Lausch, Tobias; Mayer, Daniel; Schmidt, Felix; Widera, Artur

2017-07-01

We analyze extreme event statistics of experimentally realized Markov chains with various drifts. Our Markov chains are individual trajectories of a single atom diffusing in a one-dimensional periodic potential. Based on more than 500 individual atomic traces we verify the applicability of the Sparre Andersen theorem to our system despite the presence of a drift. We present detailed analysis of four different rare-event statistics for our system: the distributions of extreme values, of record values, of extreme value occurrence in the chain, and of the number of records in the chain. We observe that, for our data, the shape of the extreme event distributions is dominated by the underlying exponential distance distribution extracted from the atomic traces. Furthermore, we find that even small drifts influence the statistics of extreme events and record values, which is supported by numerical simulations, and we identify cases in which the drift can be determined without information about the underlying random variable distributions. Our results facilitate the use of extreme event statistics as a signal for small drifts in correlated trajectories.

Clinical and radiological manifestations of paraneoplastic syndrome of bronchogenic carcinoma

Directory of Open Access Journals (Sweden)

Goldner Branislav

2005-01-01

Full Text Available The objective of this study was to present some clinical and radiological manifestations of PNS in relation to bronchogenic carcinoma (BC and to evaluate the usefulness of imaging findings in the diagnosis of asymptomatic BC. In the study group of 204 patients (146 male and 58 female with proven bronchogenic carcinoma, PNS was present in 18 (8.62% patients. The patients with PNS were divided into two groups. The first one consisted of 13 (72.2% patients with symptoms related to primary tumours while the second one consisted of 5 (27.7% patients with symptoms, at initial appearance, indicative of disorders of other organs and systems. The predominant disorder was Lambert-Eaton Syndrome, associated with small-cell carcinoma. Endocrine manifestations included: inappropriate antidiuretic hormone production syndrome (small-cell carcinoma, a gonadotropin effect with gynaecomastia and testicular atrophy (planocellular carcinoma, small-cell carcinoma, a case of Cushing Syndrome (small-cell carcinoma, and hyper-calcaemia, due to the production of the parathyroid hormone-related peptide, which was associated with planocellular carcinoma. A rare case of bilateral exophthalmos was found as PNS at adenocarcinoma. Digital clubbing and hypertrophic osteoarthropathy (HO were associated with planocellular and adenocarcinoma, while clubbing was much more common than HO, especially among women. The differences between the two groups were related to the time of PNS appearance. In the first group, PNS occurred late on in the illness, while in the second group, PNS preceded the diagnosis of BC. Alternatively, the disappearance of a clinical or a radiological manifestation of PNS after surgery or chemotherapy may be an indicator of an improvement in health or PNS may be the first sign of illness recurrence. Radiological manifestations of PNS in asymptomatic patients may serve as a useful screen for identifying primary BC. In symptomatic patients, it may be an

[«Man-in-the-barrel» syndrome: atypical manifestation of giant cell arteritis].

Science.gov (United States)

Calle-Lopez, Y; Fernandez-Ramirez, A F; Franco-Dager, E; Gomez-Lopera, J G; Vanegas-Garcia, A L

2018-06-01

«Man-in-the-barrel» syndrome refers to diplegia of the upper extremities in which mobility of the head and lower limbs is preserved. Brachial plexitis that presents as «man-in-the-barrel» syndrome is an unusual manifestation of giant cell arteritis. We report a case of C5-C6 plexitis as part of the clinical features of a patient with giant cell arteritis. A 70-year-old male with a two-month history of weight loss, headache, facial pain and jaw claudication, associated with a persistent elevation of acute phase reactants and bilateral brachial plexopathy, with no evidence of neck or brain injuries or occult neoplasm and with negative autoimmunity tests. Results of the biopsy study of the temporal artery were compatible with giant cell arteritis, and the positron emission tomography scan revealed extensive vascular involvement of the aorta and its branches. Although the typical clinical manifestations of giant cell arteritis are headache, jaw claudication, loss of sight, constitutional symptoms and polymyalgia rheumatica, its presence must be suspected in patients over the age of 50 who manifest alterations affecting the peripheral nerve, including brachial diplegia with no other demonstrable cause.

A divalent rare earth oxide semiconductor: Yttrium monoxide

Energy Technology Data Exchange (ETDEWEB)

Kaminaga, Kenichi; Sei, Ryosuke [Department of Chemistry, The University of Tokyo, Tokyo 113-0033 (Japan); Department of Chemistry, Tohoku University, Sendai 980-8578 (Japan); Hayashi, Kouichi [Department of Environmental and Materials Engineering, Nagoya Institute of Technology, Nagoya 466-8555 (Japan); Happo, Naohisa [School of Information Sciences, Hiroshima City University, Hiroshima 731-3194 (Japan); Tajiri, Hiroo [Japan Synchrotron Radiation Research Institute (JASRI)/SPring-8, Sayo 679-5198 (Japan); Oka, Daichi; Fukumura, Tomoteru, E-mail: tomoteru.fukumura.e4@tohoku.ac.jp [Department of Chemistry, Tohoku University, Sendai 980-8578 (Japan); Hasegawa, Tetsuya [Department of Chemistry, The University of Tokyo, Tokyo 113-0033 (Japan)

2016-03-21

Rare earth oxides are usually widegap insulators like Y{sub 2}O{sub 3} with closed shell trivalent rare earth ions. In this study, solid phase rock salt structure yttrium monoxide, YO, with unusual valence of Y{sup 2+} (4d{sup 1}) was synthesized in a form of epitaxial thin film by pulsed laser deposition method. YO has been recognized as gaseous phase in previous studies. In contrast with Y{sub 2}O{sub 3}, YO was dark-brown colored and narrow gap semiconductor. The tunable electrical conductivity ranging from 10{sup −1} to 10{sup 3} Ω{sup −1 }cm{sup −1} was attributed to the presence of oxygen vacancies serving as electron donor. Weak antilocalization behavior observed in magnetoresistance indicated significant role of spin-orbit coupling as a manifestation of 4d electron carrier.

Congenital Uterine Arteriovenous Malformation Presenting as Postcoital bleeding: A Rare Presentation of a Rare Clinical Condition

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Neha Agarwal

2017-01-01

Full Text Available Congenital uterine arteriovenous malformation (AVM is an extremely rare condition with <100 cases documented in literature. We report multiparous women presenting to us with a history of postcoital bleed. Initial Doppler ultrasonography was consistent with features suggestive of AVM. Subsequently, computed tomography (CT angiography confirmed the diagnosis. Embolization was chosen as the treatment because of the large extension of AVM and the risk of hemorrhage during hysterectomy. The patient was discharged in a stable condition with a plan of repeat embolization in the next setting. At 6 and 12 weeks of follow-up, she did not experience any further episodes of bleed. The purpose of this case report is to highlight the salient clinical features, diagnosis, and the management options available for this rare clinical condition.

Benign Multicystic Peritoneal Mesothelioma: A Rare Condition in an Uncommon Gender

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Muhammad S. Khurram

2017-01-01

Full Text Available Benign Multicystic Peritoneal Mesothelioma (BMPM is a rare condition that arises from the abdominal peritoneum. Fewer than 200 cases have been reported worldwide. BMPM usually affects premenopausal women and is extremely rare in men. Many factors are suspected to contribute to its development, such as previous surgery, endometriosis, and familial Mediterranean fever. The main management is surgical resection; however, it is estimated that the recurrence rate is up to 50%. Malignant transformation is rare. We report a case series of three male patients who were diagnosed with BMPM and were treated with cytoreductive surgery and hyperthermic intraperitoneal chemotherapy (HIPEC.

Occult spontaneous lateral intrasphenoidal encephalocele: A rare presentation

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Shahina Bano

2013-01-01

Full Text Available Basal encephaloceles are extremely rare congenital malformations. Advanced cross-sectional imaging modalities like computed tomography and magnetic resonance imaging are necessary for diagnosing the asymptomatic, occult basal encephalocele and planning the surgical approach. We present an interesting case of clinically silent right-sided lateral intrasphenoidal encephalocele through a large bony defect.

A Rare Case: Struma Ovarii in a 14-Year-Old Girl.

Science.gov (United States)

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.

Jejunal Perforation: A Rare Presentation of Burkitt’s Lymphoma—Successful Management

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Samir Ranjan Nayak

2014-01-01

Full Text Available Malignant tumors of the small bowel presenting as acute abdomen are a rare occurrence. Burkitt’s lymphoma presenting as a surgical emergency needing emergency laparotomy is an uncommon presentation of this tumor. We present an interesting case of jejunal perforation as a first manifestation of Burkitt’s lymphoma which was successfully managed with surgical resection, high dose chemotherapy, and good supportive care.

CT manifestation of peritoneal metastasis

International Nuclear Information System (INIS)

Cha, Soon Joo; Kang, Eun Young; Suh, Won Hyuck

1989-01-01

Peritoneal metastasis is frequent mode of dissemination of intraabdominal malignancies. Radiologic diagnosis of peritoneal metastasis has relied on indirect evidence on a barium UGI series and small bowel examination. With the advent of CT scanning, CT is capable of direct imaging of peritoneum. The sensitivity of CT in detecting peritoneal metastasis and CT manifestation of peritoneal metastatic lesions had reported occasionally, but rarely in Korea. So, authors illustrated the CT manifestation of peritoneal metastatic lesions in 32 cases of macroscopically proven cases in laparoscopy or laparotomy in Korea University Hae Wha Hospital during recent 4 years. The results are as follows. 1. Of total 32 cases, 18 cases were male and 14 cases were female. Age incidence was the most common in 6th decade. 2. The most common type of malignancy that cause peritoneal metastasis was the stomach cancer and next common type of malignancies were pancreas cancer in men and ovarian cancer in women. 3. Of total 32 cases of peritoneal metastasis which was confirmed by laparoscopy or laparotomy macroscopically, 23 cases (72%) were detected peritoneal thickening and/or omental pathology by CT, and the remaining 9 cases (28%) were not detected by CT. 4. Ascites was present in 19 cases (59%). 5. Parietal peritoneal thickening was present in 16 cases (50%) by CT and sheetlike pattern was the most common findings. The patterns of peritoneal thickening was relatively nonspecific and was not correlated with primary tumor type. 6. Tumor involvement of greater omentum by CT was present in 19 cases (59%). There were 7 cases of smudged appearance pattern, 6 cases of nodular pattern, 6 cases of omental cake pattern and no cystic mass pattern. The patterns of omental pathology was relatively nonspecific and was nor correlated with primary tumor type

Primary histiocytic sarcoma of the uterine cervix: an extremely rare entity

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Binesh Fariba

2017-03-01

Full Text Available Objective. Histiocytic sarcoma (HS is an extraordinary rare tumor and it has an offensive clinical course. HS of the uterine cervix is a far uncommon tumor with just a few cases described so far. Here we presented a case of primary HS of the uterine cervix in a 62-year-old female initially misdiagnosed as large cell non-keratinizing squamous cell carcinoma. To the best of our knowledge, this is the first reported case of HS of the uterine cervix from Iran.

Anophthalmia: an uncommon manifestation of neurofibromatosis type 1.

Science.gov (United States)

Chen, Sheng; Pu, Jia-Li; Zhang, Jian-Min; Hong, Yuan

2011-11-01

Neurofibromatosis type 1 (NF-1) is an autosomal dominant, multisystem disorder, affecting approximately 1 of 3500 people. Ocular disorders, such as Lisch nodules, optic gliomas, and anterior segment defects, are typical with clinical presentation. Anophthalmia, as a rare eye malformation, has never been reported in patients with NF-1. We report a 27-year-old patient in whom clinical manifestations of café au lait spots, neurofibromas, osseous orbital dysplasia, and anophthalmia were observed. The diagnosis of NF-1 was made, according to clinical course and brain computed tomography and magnetic resonance imaging. Because the patient refused aggressive management approaches, she was managed conservatively and is well on follow-up. We suggest that patients presenting with anophthalmia need serious evaluation and that NF-1 needs to be considered in the differential diagnosis.

Reversible thyrotroph hyperplasia with hyperprolactinemia: A rare presenting manifestation of primary hypothyroidism

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Rajesh Rajput

2012-01-01

Full Text Available Pituitary thyrotroph hyperplasia with hyperprolactinemia has been described as a rare presentation of primary hypothyroidism. Premenopausal females with this disorder can present with features of hypothyroidism, menstrual disturbances, galactorrhea, and visual field defects because of enlarged pituitary. Here we describe a 32-year-old female presenting to her gynecologist primarily with galactorrhea and secondary amenorrhea. She was found to have raised serum prolactin, and MRI brain showed enlarged pituitary. She was referred for pituitary surgery when she came to us. Clinical examination and biochemistry were suggestive of primary hypothyroidism. She was prescribed levothyroxine replacement. At 6 weeks follow-up, serum prolactin came down to normal, galactorrhea subsided, and spontaneous menstrual cycles resumed. In 12 weeks, pituitary enlargement completely regressed and in another month after that, she conceived. Hence, primary hypothyroidism can present with thyrotroph hyperplasia, where correct diagnosis and levothyroxine therapy can prevent unnecessary pituitary surgery. Hyperprolactinemia in this setting is of no clinical significance.

Acute cholestatic hepatitis along with agranulocytosis: A rare side ...

African Journals Online (AJOL)

aplastic anemia, vasculitis and cholestatic hepatitis. The most common adverse effect is a maculo- papular pruritic rash, at times accompanied by fever.[2] Adverse reaction of these thioamides occurs in 3–12% of treated patients. Agranulocytosis and cholestatic hepatitis together is an extremely rare idiosyncratic side effect ...

Diverticulum of the mitral valve, a rare cause of mitral regurgitation.

LENUS (Irish Health Repository)

Soo, Alan

2010-12-01

Non-infective mitral valve diverticulum is extremely rare. We present a case of intraoperatively diagnosed mitral valve diverticulum of a 69-year-old man presenting with mitral regurgitation who was successfully treated with mitral valve replacement.

Translational neuroscience of basolateral amygdala lesions : Studies of Urbach-Wiethe disease

NARCIS (Netherlands)

Koen, N.; Fourie, J.; Terburg, D.; Stoop, R.; Morgan, B.; Stein, D. J.; van Honk, J.

2016-01-01

Urbach-Wiethe disease (UWD) is an extremely rare autosomal recessive disorder characterized by mutations in the extracellular matrix protein 1 gene on chromosome 1. Typical clinical manifestations include voice hoarseness in early infancy and neuropsychiatric, laryngeal, and dermatological

Thrombotic thrombocytopenic purpura and deep vein thrombosis as the presenting manifestations of systemic lupus erythematosus: A case report and review of literature

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Mohammad AH Mashhadi

2011-01-01

Full Text Available Systemic lupus erythematosus (SLE, is sometimes complicated by the rare fatal syndrome, Thrombotic thrombocyto-penic purpura (TTP, but the occurrence of TTP as the initial manifestation of SLE is very rare. Since they have similar-ities in some features, the differentiation of TTP from SLE may be missed. SLE patients are also more prone to throm-botic events. Here we report a case with TTP and deep vein thrombosis as the presenting symptoms of SLE.

Ophthalmic manifestations of methylmalonic aciduria accompanied with homocystinuria

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Qiu-Jing Huang

2015-12-01

Full Text Available Methylmalonicaciduia(MMAaccompanied with homocystinuria is a rare autosomal-recessive with congenital metabolic disorder of Vitamin B12. There are three subtypes, cblC, cblD, cblF, in which cblC is the most common one. The diagnostic tests are tandem mass spectrometry and gas chromatography-mass spectrometry. Tests for activity of enzyme in fibroblasts from skin, complementary assay and genetic analysis can be used to make the subtype clear. Early-onset patients, defined by onset of symptoms before the age of 1 year, may have severe ocular involvement, including visual loss, nystagmus, strabismus, retinopathy, maculopathy, optic atrophy, abnormal electroretinography. Late-onset patients, defined by onset of symptoms after the age of 4 year, rarely have ocular manifestations. The pathogenesis of the ophthalmic symptoms may be related to the high level of homocystine, oxidative stress and the abnormal development of nervous systems. The treatment for MMA accompanied with homocystinuria is mostly symptomatic based. Ophthalmic treatment is limited. Early supplement of methionine,GSH or other antioxidants may be helpful for retinopathy. There is no standard ophthalmological examination for those patients in China. It is critical to set up inter-departmental cooperation and early stage examination for the treatments and outcomes of the patients.

Tibialis Posterior Tenosynovitis: A Unique Musculoskeletal Manifestation of Gout.

Science.gov (United States)

Shupper, Peter; Stitik, Todd P

2018-02-01

Extra-articular manifestations of gout can present in several ways, including tenosynovitis. We present a rare case of acute tibialis posterior gouty tenosynovitis. An 82-year-old man with a history of well-controlled gout presented with acute onset of left ankle pain, occurring without inciting event. The medial ankle was slightly erythematous with moderate dorsal-medial swelling and mild dorsal-lateral swelling, with severe tenderness to palpation over the medial retro-malleolar region. Range of motion and manual muscle testing were pain limited throughout. Ultrasound examination revealed a left posterior tibialis tendon sheath tenosynovitis with effusion and overlying soft tissue edema. Tendon sheath aspirate revealed sodium urate crystals and a white blood cell count of 6400/μL. Tendon sheath injection with a mixture of 1% lidocaine and dexamethasone 4 mg resulted in symptom resolution. Repeat ultrasound examination demonstrated no evidence of tibialis posterior tendon sheath effusion. This case is unique not only because acute gouty posterior tibialis tenosynovitis is very rare, particularly in a normouricemic individual, but also because the sonographic evidence of gouty infiltration into the posterior tibialis tendon and overlying subcutaneous tissue considerably aided in arriving at the correct diagnosis in a timely manner.

Isolated unilateral sixth cranial nerve palsy: A rare presentation of dengue fever

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Yang Liang Boo

2016-11-01

Full Text Available Dengue fever is a common mosquito-borne viral infection endemic in tropical and subtropical countries. Neurological manifestations in dengue infection are relatively uncommon, and include encephalitis, encephalopathy, neuromuscular disorders and neuro-ocular disorders. Cranial mononeuropathy is a rare manifestation of dengue infection. A 40-year-old man was diagnosed with isolated, unilateral sixth cranial nerve palsy complicating dengue infection. The patient was managed accordingly, and full ocular recovery was observed. This was the first reported case of isolated sixth cranial nerve palsy associated with dengue fever in Malaysia. It is important for clinicians to consider dengue as a differential diagnosis in patients presenting with fever and sixth cranial nerve palsy.

Ocular Manifestations of Acquired Immunodeficiency Syndrome.

Science.gov (United States)

Kim, Young Shin; Sun, Hae Jung; Kim, Tae Hyong; Kang, Kui Dong; Lee, Sung Jin

2015-08-01

To investigate the patterns and risk factors of the ocular manifestations of acquired immunodeficiency syndrome (AIDS) and their correlation with CD4+ count in the era of highly active antiretroviral therapy (HAART). This retrospective study examined 127 AIDS patients who presented to Soonchunhyang University Hospital. Data were collected from patient interviews, clinical examinations, and laboratory investigations. Ophthalmologic examinations included the best-corrected visual acuity, intraocular pressure, anterior segment and adnexal examination, and dilated fundus examination. Of the 127 patients with AIDS, 118 were on HAART and 9 were not. The mean CD4+ count was 266.7 ± 209.1 cells/µL. There were ocular manifestations in 61 patients (48.0%). The incidence of anterior segment manifestations was higher than posterior segment manifestations at 28.3% and 19.7%, respectively. The mean CD4+ count was significantly (p AIDS. In this study, anterior segment and external ocular manifestations occurred more frequently than posterior segment manifestations. Also, the mean CD4+ count was significantly lower in patients with posterior segment ocular manifestations versus anterior segment ocular manifestations. We found that CD4+ count and age >35 years were independent risk factors for developing ocular manifestations.

Penile Duplication and Two Anal Openings; Report of a Very Rare Case

OpenAIRE

Bakheet, Mohamed Abdel Al M.; Refaei, Mohammad

2012-01-01

Background Penile duplication (diphallus) is an extremely rare disorder. It is almost always associated with other malformations like double bladder, exstrophy of the cloacae, imperforate anus, duplication of the rectosigmoid and vertebral deformities. Meanwhile anal canal duplication, the most distal and least common duplication of the digestive tube and is a very rare congenital malformation. Case Presentation A 21 days old Egyptian neonate is reported with complete penile duplication and t...

Attribution of extreme rainfall from Hurricane Harvey, August 2017

OpenAIRE

Van Oldenborgh, Geert Jan; Van Der Wiel, Karin; Sebastian, A.G.; Singh, Roop; Arrighi, Julie; Otto, Friederike; Haustein, Karsten; Li, Sihan; Vecchi, Gabriel; Cullen, Heidi

2017-01-01

During August 25-30, 2017, Hurricane Harvey stalled over Texas and caused extreme precipitation, particularly over Houston and the surrounding area on August 26-28. This resulted in extensive flooding with over 80 fatalities and large economic costs. It was an extremely rare event: the return period of the highest observed three-day precipitation amount, 1043.4 mm 3dy-1 at Baytown, is more than 9000 years (97.5% one-sided confidence interval) and return periods exceeded 1000 yr (750 mm 3dy-1)...

Dens evaginatus and dens invaginatus in a double tooth: A rare case report

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Gaurav Sharma

2015-01-01

Full Text Available The presence of dens invaginatus (DI and dens evaginatus (DE on same tooth is a rare phenomenon. However, when these dental anomalies occur on a double tooth, it becomes an extremely rare phenomenon. The authors report a rare case of DI and DE on fused permanent maxillary central incisor with supernumerary tooth in a 40-year-old male. The present article also focuses on the differentiating fusion from gemination and also reviews preventive and management strategies for tooth with complex dental anatomy.

Ocular and non-ocular manifestations of hypohidrotic ectodermal dysplasia

Science.gov (United States)

Tyagi, Pallavi; Tyagi, Vipin; Hashim, Adnan A

2011-01-01

Hypohidrotic ectodermal dysplasia (HED) is a group of rare multisystemic genetic syndromes that affects ectodermal structures such as skin, hair, nails, teeth and sweat glands. The authors present a case of a child with ocular and dermatological signs of HED along with severe involvement of other multiple organ systems. The family history could be traced to four generations and there was an observed trend of increase in severity of signs and symptoms occurring at younger age. The purpose of this case report is to create awareness in ophthalmic community of its diagnosis and clinical manifestations. This case highlights the role of multidisciplinary approach for management of systemic disease, genetic evaluation of affected individuals and carriers and genetic counselling. PMID:22700604

Brain abscess as a manifestation of spinal dermal sinus

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Parisa Emami-Naeini

2008-09-01

Full Text Available Parisa Emami-Naeini, Ali Mahdavi, Hamed Ahmadi, Nima Baradaran, Farideh NejatDepartment of Neurosurgery, Children’s Hospital Medical Center, Medical Sciences/University of Tehran, Tehran, IranAbstract: Dermal sinuses have been associated with a wide spectrum of clinical manifestations ranging from asymptomatic to drainage of purulent material from the sinus tract, inclusion tumors, meningitis, and spinal abscess. To date, there has been no documented report of brain abscess as a complication of spinal dermal sinus. Here, we report an 8-month-old girl who was presented initially with a brain abscess at early infancy but lumbar dermal sinus and associated spinal abscess were discovered afterwards. The probable mechanisms of this rare association have been discussed.Keywords: brain abscess, spinal dermal sinus, spinal abscess

Haematological manifestations of lupus

Science.gov (United States)

Fayyaz, Anum; Igoe, Ann; Kurien, Biji T; Danda, Debashish; James, Judith A; Stafford, Haraldine A; Scofield, R Hal

2015-01-01

Our purpose was to compile information on the haematological manifestations of systemic lupus erythematosus (SLE), namely leucopenia, lymphopenia, thrombocytopenia, autoimmune haemolytic anaemia (AIHA), thrombotic thrombocytopenic purpura (TTP) and myelofibrosis. During our search of the English-language MEDLINE sources, we did not place a date-of-publication constraint. Hence, we have reviewed previous as well as most recent studies with the subject heading SLE in combination with each manifestation. Neutropenia can lead to morbidity and mortality from increased susceptibility to infection. Severe neutropenia can be successfully treated with granulocyte colony-stimulating factor. While related to disease activity, there is no specific therapy for lymphopenia. Severe lymphopenia may require the use of prophylactic therapy to prevent select opportunistic infections. Isolated idiopathic thrombocytopenic purpura maybe the first manifestation of SLE by months or even years. Some manifestations of lupus occur more frequently in association with low platelet count in these patients, for example, neuropsychiatric manifestation, haemolytic anaemia, the antiphospholipid syndrome and renal disease. Thrombocytopenia can be regarded as an important prognostic indicator of survival in patients with SLE. Medical, surgical and biological treatment modalities are reviewed for this manifestation. First-line therapy remains glucocorticoids. Through our review, we conclude glucocorticoids do produce a response in majority of patients initially, but sustained response to therapy is unlikely. Glucocorticoids are used as first-line therapy in patients with SLE with AIHA, but there is no conclusive evidence to guide second-line therapy. Rituximab is promising in refractory and non-responding AIHA. TTP is not recognised as a criteria for classification of SLE, but there is a considerable overlap between the presenting features of TTP and SLE, and a few patients with SLE have concurrent

Lymphangioma causing duodenal obstruction in adult, rare presentation

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Prashant W Khade

2016-01-01

Full Text Available A submucosal lymphangioma is a rare pathology in the alimentary tract. It is a benign entity of the lymphatic system. A duodenal lymphangioma is extremely rare and has an unknown etiology. Clinical and laboratory findings are nonspecific, and they are incidentally found by endoscopy and their treatment is surgical excision. Small lesions are often asymptomatic. Recently, the authors experienced a 62-year-old man, who had a duodenal lymphangioma, showing gastric outlet obstruction symptoms. A multidetector computed tomography abdomen study revealed a single submucosal cystic lesion in second part of duodenum. The lesion was successfully excised after Whipple′s procedure. Histopathology confirmed the diagnosis of lymphangioma.

Neuropsychiatric manifestations of scrub typhus

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Sanjay K Mahajan

2017-01-01

Full Text Available Scrub typhus is caused by Orientia tsutsugamushi characterized by focal or disseminated vasculitis and perivasculitis which may involve the lungs, heart, liver, spleen and central nervous system. It was thought to have been eradicated from India. Recently it is being reported from many areas of India. The clinical picture and severity of the symptoms varies widely. The neurological manifestations of scrub typhus are not uncommon but are diverse. Meningoencephalitis is classical manifestation of scrub typhus but cerebellitis, cranial nerve palsies, plexopathy, transverse myelitis, neuroleptic malignant syndrome and Guillan-Barré syndrome are other manifestations reported in literature. The availability of literature on the neurological manifestations of scrub typhus is limited to case reports mainly. This article reviews various neurological manifestations of scrub typhus reported in literature.

Acromegaly with Normal Insulin-Like Growth Factor-1 Levels and Congestive Heart Failure as the First Clinical Manifestation

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Hyae Min Lee

2015-09-01

Full Text Available The leading cause of morbidity and mortality in patients with acromegaly is cardiovascular complications. Myocardial exposure to excessive growth hormone can cause ventricular hypertrophy, hypertension, arrhythmia, and diastolic dysfunction. However, congestive heart failure as a result of systolic dysfunction is observed only rarely in patients with acromegaly. Most cases of acromegaly exhibit high levels of serum insulin-like growth factor-1 (IGF-1. Acromegaly with normal IGF-1 levels is rare and difficult to diagnose. Here, we report a rare case of an acromegalic patient whose first clinical manifestation was severe congestive heart failure, despite normal IGF-1 levels. We diagnosed acromegaly using a glucose-loading growth hormone suppression test. Cardiac function and myocardial hypertrophy improved 6 months after transsphenoidal resection of a pituitary adenoma.

Dural sinus thrombosis - A rare manifestation of internal jugular venous occlusion

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Pooja Binnani

2012-01-01

Full Text Available The dural sinus thrombosis is an uncommon complication of a commonly done procedure of central venous catheterisation. We present a case of massive hemorrhagic venous infarct with gross cerebral edema due to dural sinus thrombosis along with right internal jugular vein thrombus. A 21-year-old male patient presented to the emergency department with fever and swelling of the right neck four days following discharge after his prior hospitalization two weeks ago for acute renal failure due to severe gastroenteritis, when he underwent hemodialysis through right internal jugular access. On presentation, he was conscious, with swelling on right side of the neck, which was diagnosed as right internal jugular vein occlusion. However, he rapidly dete-riorated and developed signs of raised intracranial pressure despite being on treatment with heparin. He was diagnosed as having massive hemorrhagic cerebral venous infarct with gross cerebral edema complicated with shift of the ventricles to the left due to dural sinus thrombosis. Despite emergency decompressive craniotomy, he succumbed in the next two days due to coning. Asymptomatic catheter-related thrombosis is frequent in the intensive care units, but major complications like retrograde extension into dural sinus causing thrombosis is rare. A high index of suspicion is required to diagnose this major catastrophe for an early and meaningful intervention.

Primary Sjögren′s syndrome without ocular involvement: A rare case report

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Tushar Phulambrikar

2014-01-01

Full Text Available Sjögren′s Syndrome (SS is a chronic systemic autoimmune disorder, characterized by the lymphocytic infiltration of lacrimal and salivary glands, giving rise to dry eyes (keratoconjunctivitis sicca and dry mouth (xerostomia. Primary Sjögren′s Syndrome commonly presents only with sicca manifestations; whereas, secondary Sjögren′s syndrome occurs in connection with other autoimmune rheumatic diseases. Primary Sjögren′s syndrome without ocular manifestation is rarely reported in the literature. Here we report a case of a 45-year-old female, who presented to us with complaints of dryness of mouth and dysphagia, without any ocular and systemic manifestations. On further evaluation she was diagnosed as a case of Primary Sjögren′s syndrome. With this case report, we intend to emphasize the importance of an early diagnosis of this disorder, along with a brief review of various diagnostic criteria.

Synovial Sarcoma of the Buccal Mucosa: A Rare Case Report

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Kumar T. S. Mahesh

2013-01-01

Full Text Available Synovial sarcoma (SS is a rare malignant neoplasm that arises most commonly in joint capsules and articular tendons, but its relationship to the synovium is not always obvious. Synovial sarcoma is a malignant soft tissue tumor representing 5.6% to 10% of all soft tissue sarcomas. They are termed SS because of their histologic resemblance to the synovium, but they rarely involve a synovial structure and are thought to arise from pluripotential mesenchymal cells. The tumor usually occurs in close association with tendon sheaths, bursae, and joint capsules, primarily in the para-articular regions of the extremities, with approximately 9% occurring in the head and neck region. Synovial sarcoma has been reported rarely in the oral cavity. We report a very rare case of Synovial sarcoma of the buccal mucosa in a 24-year-old male patient.

Cryptogenic Organising Pneumonia As The Initial Presenting Manifestation of SLE

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Neena Mampilly

2015-07-01

Full Text Available Cryptogenic Organising Pneumonia (COP, also called idiopathic Bronchiolitis Obliterans Organising Pneumonia( BOOP, is a distinct entity among the idiopathic interstitial pneumonias defined histopathologically by intraalveolar buds of granulation tissue. The etiology includes idiopathic, infectious, drug induced radiation induced and connective tissue diseases. Organising pneumonia occurs particularly in patients with dermatomyositis-polymyositis where it may be the presenting manifestation, and rarely in SLE, rheumatoid arthritis, scleroderma and other connective tissue diseases. We describe a 30 yr old lady who initially presented with respiratory symptoms, not responding to antibiotics. She was subsequently diagnosed as SLE and HRCT thorax showed consolidation involving both lung fields. A percutaneous lung biopsy revealed features of Cryptogenic Organising Pneumonia.

Hepatic tuberculosis presenting with extreme hyperferritinemia masquerading as adult-onset Still’s disease: a case report

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Manoj Edirisooriya

2012-07-01

Full Text Available Abstract Introduction Isolated hepatic tuberculosis is an uncommon manifestation of one of the most common infections worldwide, caused by Mycobacterium tuberculosis. Extremely high serum ferritin, which is regarded as a marker of adult onset Still’s disease, has not been observed in patients with tuberculosis of the liver. We report a case of hepatic tuberculosis who presented with clinical criteria of adult-onset Still’s disease and extreme hyperferritinemia, which posed a diagnostic confusion. Case presentation Our patient was a 48-year-old Sri Lankan man who presented with fever, polyarthralgia and a generalized skin rash of three months duration. He had marked constitutional symptoms, oral ulcers, hair loss, anemia and hepatomegaly. Laboratory investigations disclosed an inflammatory syndrome, evidence of hepatic dysfunction, bone marrow suppression and a raised serum ferritin level of 34,674 ng/ml. A rapidly deteriorating course of illness prompted treatment based on a presumptive diagnosis of adult-onset Still’s disease until liver histology was available. The patient died of sepsis followed by multi-organ dysfunction. Later, the liver histology revealed tuberculosis. Conclusion Extrapulmonary tuberculosis, although well known to present with peculiar manifestations, has not been reported to be associated with extremely high levels of serum ferritin in immunocompetent individuals. Isolated hepatic tuberculosis presenting with clinical criteria of adult-onset Still’s disease is remarkable. Since tuberculosis remains a potentially curable disease, an awareness of its’ protean manifestations is essential.

Insertion sequences enrichment in extreme Red sea brine pool vent

KAUST Repository

Elbehery, Ali H. A.

2016-12-03

Mobile genetic elements are major agents of genome diversification and evolution. Limited studies addressed their characteristics, including abundance, and role in extreme habitats. One of the rare natural habitats exposed to multiple-extreme conditions, including high temperature, salinity and concentration of heavy metals, are the Red Sea brine pools. We assessed the abundance and distribution of different mobile genetic elements in four Red Sea brine pools including the world’s largest known multiple-extreme deep-sea environment, the Red Sea Atlantis II Deep. We report a gradient in the abundance of mobile genetic elements, dramatically increasing in the harshest environment of the pool. Additionally, we identified a strong association between the abundance of insertion sequences and extreme conditions, being highest in the harshest and deepest layer of the Red Sea Atlantis II Deep. Our comparative analyses of mobile genetic elements in secluded, extreme and relatively non-extreme environments, suggest that insertion sequences predominantly contribute to polyextremophiles genome plasticity.

MR features of multiple enchondromas with associated chondrosarcoma in the lower extremities

Energy Technology Data Exchange (ETDEWEB)

Yang, Kyung Yoon; Sung, Mi Sook; Lee, Hee Jeong; Park, Il Joong; Lee, Jae Young; Yu, Won Jong; Lee, Gook Jin; Jeon, Sang Hoon; Yu, Mi Na; Yoon, Se Cheol [College of Medicine, The Catholic University of Korea, Bucheon St. Mary' s Hospital, Bucheon (Korea, Republic of)

2016-02-15

Multiple enchondromas are well described in the literature, however, the associated spectrum of MR imaging findings remains unclear. Secondary chondrosarcoma of the hand and feet associated with multiple enchondromas is extremely rare. Herein, we reported a case of multiple enchondromas of intramedullary, intracortical, and periosteal location with associated low-grade chondrosarcomas in the lower extremities on MR imaging in a 57 year old woman.

A rare cause of recurrent gastrointestinal bleeding: mesenteric hemangioma

Directory of Open Access Journals (Sweden)

Zeytunlu Murat

2009-01-01

Full Text Available Abstract Lower gastrointestinal hemorrhage accounts for approximately 20% of gastrointestinal hemorrhage. The most common causes of lower gastrointestinal hemorrhage in adults are diverticular disease, inflammatory bowel disease, benign anorectal diseases, intestinal neoplasias, coagulopathies and arterio-venous malformations. Hemangiomas of gastrointestinal tract are rare. Mesenteric hemangiomas are also extremely rare. We present a 25-year-old female who was admitted to the emergency room with recurrent lower gastrointestinal bleeding. An intraluminal bleeding mass inside the small intestinal segment was detected during explorative laparotomy as the cause of the recurrent lower gastrointestinal bleeding. After partial resection of small bowel segment, the histopathologic examination revealed a cavernous hemagioma of mesenteric origin. Although rare, gastrointestinal hemangioma should be thought in differential diagnosis as a cause of recurrent lower gastrointestinal bleeding.

Acute myocarditis mimicking myocardial infarction can misdirect the diagnostic approach

Directory of Open Access Journals (Sweden)

Erkan Yildirim

2016-03-01

Full Text Available Acute myocarditis is a well-recognized but rare manifestation of mostly viral infections. It can present with various clinical manifestations and may mimic myocardial infarction (MI since patients usually present with chest pain, and the electrocardiographic changes similar to those observed in acute ST-elevation MI. We, herein, present such an extreme case of acute myocarditis characterized by dynamic ST segment elevation with reciprocal changes in the electrocardiogram.

Unusual manifestations of secondary urothelial carcinoma

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Chaohui Lisa Zhao

2016-03-01

Full Text Available High-grade papillary urothelial carcinoma regularly invades the bladder wall, adjacent prostate, seminal vesicles, ureters, vagina, rectum, retroperitoneum, and regional lymph nodes. In advanced stages, it may disseminate to the liver, lungs, and bone marrow. On rare occasions, unusual metastatic foci like skin have been reported. The incidence of urothelial carcinoma has increased with associated rise in variants of urothelial carcinoma and unusual metastatic foci. It is imperative that urologists and pathologists are aware of the unusual variants and unusual metastatic locations to expedite the diagnostic process. Hereby we report an unusual case of secondary involvement of spinal nerve by conventional urothelial carcinoma. Also a second case of rhabdoid variant of urothelial carcinoma showing synchronous involvement of bladder and subcutaneous tissue of upper extremity is presented.

Unusual Origin and Rare Presentation of Primary Cardiac Lymphoma

Science.gov (United States)

Mohamed, Amir; Cherian, Sanjay; El-Ashmawy, Ahmed; Abdelmoneim, Salah Eldin; Soliman, Maher; Abu-Rayan, Mohamed; Kalangos, Afksendyios

2011-01-01

Non-Hodgkin lymphoblastic lymphomas are very uncommon tumors that rarely involve the heart; however, when they do, they typically cause cardiac symptoms. Herein, we describe the case of a young woman who presented with respiratory symptoms. These were caused by a high-grade lymphoblastic lymphoma, which originated in the left inferior pulmonary vein and extended into the left atrium. The tumor was surgically debulked, but it recurred in 1 month, and the patient underwent chemotherapy. Six months later, she had recurrent respiratory symptoms, and echocardiography revealed a persistent mass in the left lower lobar vein. A modified chemotherapy regimen led to complete resolution of the tumor within 2 months. We are unaware of other reports of a primary cardiac non-Hodgkin lymphoblastic lymphoma with this unusual site of origin and rare manifestation of symptoms. PMID:21841872

A rare presentation of childhood Pompe disease : Cardiac involvement provoked by Epstein-Barr virus infection

NARCIS (Netherlands)

Talsma, Melle; Kroos, MA; Visser, G; Kimpen, JLL; Niezen, KE

Myocarditis attributed to Epstein-Barr virus (EBV) as the sole cause is a rare manifestation. Myocarditis ascribed to EBV infection in combination with other factors has been reported in a few more cases. We report a child who experienced active EBV infection and later, at 19 months of age, received

Tc-99m colloid lung uptake in a rare case of toxoplasmosis with liver involvement

International Nuclear Information System (INIS)

Garty, I.; Tal, I.; Kaynan, A.

1984-01-01

Intensive lung accumulation of colloid (Tc-99m phytate) was demonstrated in a child suffering from acquired toxoplasmosis with a rare manifestation of severe liver damage. The possible mechanism and clinical importance of colloid lung concentration in this case is briefly discussed, including a review of the literature on this subject

CT manifestation of hepatic toxoplasmosis

International Nuclear Information System (INIS)

Mao Qing; Yang Yaying; Bao Yanming; He Bo; Wang Kechao; Song Guangyi; Lu Lin; Wang Xiaoli

2005-01-01

Objective: To study the CT manifestation of hepatic toxoplasmosis, and to provide image basis for its clinical diagnosis. Methods: Three patients with hepatic toxoplasmosis were examined by abdomen MSCT (pre- and post-contrast), and were confirmed by laboratory exams. The images were analyzed with information of clinical manifestation. Results: The positive appearances included the enlargement of liver, patches of multiple scattered low densities. Post-contrast lesions appearances: (1) No significant enhancement. (2) No significant occupying effection, and normal vessels inserting lesion occasionally. Conclusion: CT manifestation of hepar toxoplasmosis are some characteristic. But the diagnosis was made by a combination both clinical manifestation and laboratory exams. (authors)

Surgical manifestations of filariasis

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Subrahmanyam M

1978-01-01

Full Text Available Surgical manifestations of filariasis as seen in 150 cases over a period of three years in the department of Surgery, Mahatma Gandhi Institute of Medical Sciences, Sevagram, Wardha are reviewed. The genital manifestations are more common than the elephantiasis in this endemic zone.

Stewart-Treves Syndrome on the Lower Extremity Associated to Idiopathic Chronic Lymphedema Visualized on FDG PET/CT

DEFF Research Database (Denmark)

Brittain, Jane Maestri; Nymark, Tine; Hildebrandt, Malene Grubbe

2017-01-01

Angiosarcomas are highly malignant and rare tumors of vascular or lymphatic endothelial cell origin with a poor prognosis. Lymphangiosarcoma associated with chronic lymphedema is known as Stewart-Treves syndrome. Stewart-Treves syndrome is primarily described in patients with lymphedema of an upper...... extremity occurring after breast cancer surgery including radical axillary lymph node dissection and subsequent radiotherapy. It is rarely described in the presence of idiopathic chronic lymphedema of the lower extremities. We present a case of lymphangiosarcoma visualized on F-FDG PET/CT, where Stewart...

A rare combination of findings revealed by MR imaging in the Marfan syndrome

International Nuclear Information System (INIS)

Kleimaker, G.; Ehrenheim C.; Rittierodt, M.; Jaster, S.; Hundeshagen, H.

1996-01-01

We report on the case of a 16-year-old boy known to have suffered form the Marfan syndrome for the past ten years. Even though he could not be regarded as a text-book perfect example, he showed some rare manifestations of the disease. Particular attention is given to the diagnostic possibilities offered by MR imaging. (orig./MG) [de

Oral manifestations of Ellis-van Creveld syndrome

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Ritesh Kalaskar

2012-01-01

Full Text Available Ellis-van Creveld syndrome is a rare autosomal-recessive disorder characterized by short limbs, post-axial polydactyly, ectodermal dysplasia, edentulous mandibular incisor region, absence of mucobuccal fold, congenitally missing teeth, slight serrations of the alveolar ridge and multiple small alveolar notches. The clinical report not only describes the classical oral and dental manifestations of Ellis-van Creveld syndrome but also presents unusual findings such as single-rooted and funnel-shaped primary first molars, single conical roots of primary second molars and taurodontisum, which must be considered in the differential diagnostic criteria to avoid misdiagnosis of syndromes. The article also discusses the differential diagnosis and preventive and therapeutic oral health care for these patients. The management of Ellis-van Creveld syndrome is multidisciplinary and, therefore, the oral health care provider should get updated with latest knowledge for timely referral to prevent the patient from further complications of heart defect and bony deformity.

Q fever: a new ocular manifestation

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Udaondo P

2011-09-01

Full Text Available P Udaondo1,3, S Garcia-Delpech1,2, D Salom1,2, M Garcia-Pous1, M Diaz-Llopis1,21Department of Ophthalmology, Nuevo Hospital Universitario y Politecnico La Fe, Valencia, Spain; 2Faculty of Medicine, Universitat de València, Valencia, Spain; 3Universidad Cardenal Herrera CEU, Valencia, SpainAbstract: Q Fever is a zoonosis caused by Coxiella burnetii. Ocular manifestations are rare in this infection. We describe the case of a man complaining of an intense retro-orbital headache, fever, arthralgia, and bilateral loss of vision, who showed an anterior uveitis accompanied by exudative bilateral inferior retinal detachment and optic disk edema. At the beginning, a Vogt–Koyanagi–Harada (VKH syndrome was suspected, but the patient was diagnosed with Q fever and treatment with doxycycline was initiated, with complete resolution after 2 weeks. We wondered if Q fever could unleash VKH syndrome or simulate a VKH syndrome by a similar immunological process.Keywords: Q fever, Vogt–Koyanagi–Harada syndrome, panuveitis, exudative retinal detachment

Pediatric gliosarcoma with fibrosarcomatous differentiation: Report of a rare case

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Shantha Ravisankar

2012-01-01

Full Text Available Gliosarcoma is a rare variant of glioblastoma with a biphasic pattern showing glial and mesenchymal differentiation. It is seen in adults during their fifth to sixth decades of life and is extremely rare in children. We report a case of primary gliosarcoma with fibrosarcomatous differentiation in an 11-year-old boy presenting with headache and vomiting. Imaging showed a contrast-enhancing isodense space-occupying lesion with areas of calcification in the right temporoparietal cortex. A total excision was done and, on histopathologic examination, a differential diagnostic consideration of gliosarcoma and teratoma with malignant transformation was made. After immunohistochemical analysis, a final diagnosis of gliosarcoma with fibrosarcomatous differentiation was then made. Primary gliosarcoma is a very rare tumor in children with a poor prognosis.

Giant-cell Arteritis of the Ovarian Arteries: A Rare Manifestation of a Common Disease

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Prisca Theunissen

2018-02-01

Full Text Available We describe a 58-year-old woman presenting with headache and an elevated erythrocyte sedimentation rate (ESR, who was diagnosed with and successfully treated for giant-cell arteritis (GCA. Seven months after the end of treatment, ovarian GCA was incidentally found after ovariectomy for a simple cyst. GCA of extracranial vessels like the ovarian arteries is rare. Nevertheless, we stress that extracranial GCA should be considered in patients older than 50 years with an elevated ESR, even if a temporal artery biopsy is negative or specific symptoms are absent. Moreover, we discuss the importance of imaging techniques when GCA of the extracranial large vessels is suspected.

Amniotic amputation | Ayadi | Pan African Medical Journal

African Journals Online (AJOL)

Amniotic band syndrome (ABS) is an uncommon, congenital fetal abnormality. Lower extremity limb defects are the common manifestations of ABS. The most common features include congenital distal ring constrictions, intrauterine amputations, and acrosyndactyly. Rare cases of craniofacial and visceral defects were ...

Isolated pulmonary candidiasis in a patient with diabetes mellitus: A rare case report

OpenAIRE

Hakamifard, Atousa; Khorvash, Farzin; Raisi, Arash

2016-01-01

Fungal infections are as a cause of morbidity and mortality in immunocompromise patients. Because the respiratory tract is colonized with Candida, the presence of this agent in respiratory specimens makes the diagnosis of Candida pneumonia problematic. Candida pneumonia is a rare infection, and the majority of cases are secondary to hematogenous dissemination. Furthermore isolated Candida pneumonia originating from endotracheal inoculation is an extremely rare entity. We describe a case of is...

A severe case of erythrodermic psoriasis associated with advanced nail and joint manifestations: a case report

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Balderrama Carola

2010-06-01

Full Text Available Abstract Introduction Erythrodermic psoriasis is a rare generalized clinical presentation of psoriasis in children and adults. Its systemic involvement and a diverse range of clinical findings in the joint and nails are commonly described. A high index of suspicion and an exhaustive differential diagnosis involving other causes of erythroderma should be initially considered. Case presentation We present the case of a 9-year-old native Hispanic girl with severe erythrodermic psoriasis associated with uncommon advanced nail and joint manifestations. Our patient showed an excellent response to methotrexate medication. Conclusion This case shows clinical features not commonly described or reported in severe cases of erythrodermic psoriasis, including severe and rare nail and arthritic findings in a pediatric scenario.

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

OpenAIRE

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.

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

Science.gov (United States)

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.

Unusual manifestations of astroblastoma: a radiologic-pathologic analysis

International Nuclear Information System (INIS)

Ganapathy, Srinivas; Kleiner, Laurence I.; Mirkin, David L.; Broxson, Emmett

2009-01-01

Astroblastoma is a very rare primary glial tumor occurring in children and young adults that is almost exclusively supratentorial in location. We report an extremely unusual presentation of a densely calcified posterior fossa astroblastoma with disseminated spinal and supratentorial metastasis. The mass exhibited neoplastic bone formation, which has not been reported, although calcifications are commonly seen in astroblastomas. A companion case of a low-grade astroblastoma that demonstrated classic histologic features but nonspecific and atypical imaging findings is also included. These cases expand the imaging and pathologic spectrum of this controversial tumor that shows highly variable biologic behavior and is difficult to distinguish from ependymoma. (orig.)

DIRECTIONS OF EXTREME TOURISM IN UKRAINE

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L. V. Martseniuk

2016-02-01

preservation of the property. Originality. The author shows the theoretical generalization and new solution of a scientific problem. It manifests itself in the development of theoretical and methodological approaches to the development of extreme tourism. Practical value. Rational use of measures proposed by the author of directional control of tourist flows will significantly increase the country's revenues from domestic tourism.

Pulmonary cystic disease associated with integumentary and renal manifestations

Science.gov (United States)

Cayetano, Katherine S.; Albertson, Timothy E.; Chan, Andrew L.

2013-01-01

A 69-year-old man with multiple skin lesions on his face, neck and upper torso, which first appeared in the 3rd decade of his life, was admitted to our hospital. He had cystic changes in his lungs noted on chest computed tomography (CT) scanning, as well as a left kidney mass. This patient exhibited a rare complex of renal, cutaneous and pulmonary manifestations, eponymously named Birt-Hogg-Dube syndrome, with characteristic skin features (fibrofolliculomas, trichodiscomas and acrochordons). This syndrome is due to an autosomal dominant germ-line mutation of the folliculin (FLCN) gene located at chromosome 17p11.2. Diagnosis and differentiation from other disease complexes including the skin, kidneys and lungs are important in prognostication and management of potentially life-threatening complications such as renal cell carcinoma and pneumothoraces. PMID:24285950

A genome-wide analysis of putative functional and exonic variation associated with extremely high intelligence.

Science.gov (United States)

Spain, S L; Pedroso, I; Kadeva, N; Miller, M B; Iacono, W G; McGue, M; Stergiakouli, E; Davey Smith, G; Putallaz, M; Lubinski, D; Meaburn, E L; Plomin, R; Simpson, M A

2016-08-01

Although individual differences in intelligence (general cognitive ability) are highly heritable, molecular genetic analyses to date have had limited success in identifying specific loci responsible for its heritability. This study is the first to investigate exome variation in individuals of extremely high intelligence. Under the quantitative genetic model, sampling from the high extreme of the distribution should provide increased power to detect associations. We therefore performed a case-control association analysis with 1409 individuals drawn from the top 0.0003 (IQ >170) of the population distribution of intelligence and 3253 unselected population-based controls. Our analysis focused on putative functional exonic variants assayed on the Illumina HumanExome BeadChip. We did not observe any individual protein-altering variants that are reproducibly associated with extremely high intelligence and within the entire distribution of intelligence. Moreover, no significant associations were found for multiple rare alleles within individual genes. However, analyses using genome-wide similarity between unrelated individuals (genome-wide complex trait analysis) indicate that the genotyped functional protein-altering variation yields a heritability estimate of 17.4% (s.e. 1.7%) based on a liability model. In addition, investigation of nominally significant associations revealed fewer rare alleles associated with extremely high intelligence than would be expected under the null hypothesis. This observation is consistent with the hypothesis that rare functional alleles are more frequently detrimental than beneficial to intelligence.

Nance–Horan Syndrome: A Rare Case Report

OpenAIRE

Sharma, Shambhu; Datta, Pankaj; Sabharwal, Janak Raj; Datta, Sonia

2017-01-01

Dentofacial anomalies may guide us to the diagnosis of many congenital and hereditary syndromes. A 9-year-old boy was diagnosed with Nance–Horan syndrome. This syndrome is an extremely rare X-linked genetic disorder which is entirely expressed in males with semi-dominant transmission which results from mutations occurring in male gametes. It is characterized by facial dysmorphism such as long face, prominent nose and mandibular prognathism, ocular abnormalities such as congenital cataract, mi...

Extrathoracic manifestations of tuberculosis

International Nuclear Information System (INIS)

Kienzl-Palma, D.; Prosch, H.

2016-01-01

Besides the lungs, tuberculosis (TB) can affect any organ system. In most cases, extrathoracic TB occurs in immunosuppressed patients as part of a severe illness via hematogenous spread. Extrathoracic involvement most commonly involves abdominal organs, especially the urogenital tract and less commonly the central nervous system (CNS) and the musculoskeletal system. Most frequently, computed tomography (CT) is used for detecting extrathoracic TB manifestations, except for CNS and musculoskeletal manifestations, where contrast-enhanced magnetic resonance imaging (MRI) is the gold standard. Extrathoracic manifestations of TB may be indistinguishable from inflammatory or malignant causes. Due to unspecific symptoms the diagnosis is often delayed. This article summarizes and discusses the various radiological manifestations of extrathoracic manifestation of TB. Radiological modalities for screening extrathoracic TB are CT and MRI. Conventional X-radiographs do not play a role in the diagnosis of extrathoracic TB. The possibility of extrathoracic TB should be considered particularly in immunosuppressed patients, such as the homeless, alcoholics or drug addicts or in patients with an immigrant background from the endemic areas of TB. The most likely site of extrathoracic TB is the abdomen; however, infections of the CNS or musculoskeletal systems and multisystem infections can also occur. In patients with suspected extrathoracic TB, radiological modalities for screening are CT, especially for abdominal infections and lymphadenopathy and MRI with contrast media for the musculoskeletal system and the CNS. (orig.) [de

Christ siemens touraine syndrome: A rare case report

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N Retnakumari

2016-01-01

Full Text Available Christ-Siemens-Touraine (CST is a rare hereditary disorder of X-linked recessive trait, characterized by abnormal development of two or more structures or tissues of ectodermal origin. The common clinical findings include hypodontia, hypohydrosis, hypotrichosis, and onychodysplasia. Although hypodontia is common, anodontia is a rare feature. Most of the patients are suffering from social rejection and consequent psychological trauma because of the facial dysmorphism and absence of multiple teeth. Oral rehabilitation is of prime importance for such patients. This article presents a case in a 5½-year-old boy presenting with altered manifestations affecting almost all the ectodermal structures like skin, hair, nails, teeth, sebaceous glands, sweat glands, salivary glands, mammary glands, and tear glands. He also had complete anodontia and dry mouth. A multidisciplinary treatment was given to the patient with the collaboration of various health professionals. The child gained confidence and was relieved from the psychological impact following the prosthetic rehabilitation.

Christ Siemens Touraine syndrome: A rare case report.

Science.gov (United States)

Retnakumari, N; Varghese, Manuja; Kannan, V P

2016-01-01

Christ-Siemens-Touraine (CST) is a rare hereditary disorder of X-linked recessive trait, characterized by abnormal development of two or more structures or tissues of ectodermal origin. The common clinical findings include hypodontia, hypohydrosis, hypotrichosis, and onychodysplasia. Although hypodontia is common, anodontia is a rare feature. Most of the patients are suffering from social rejection and consequent psychological trauma because of the facial dysmorphism and absence of multiple teeth. Oral rehabilitation is of prime importance for such patients. This article presents a case in a 5½-year-old boy presenting with altered manifestations affecting almost all the ectodermal structures like skin, hair, nails, teeth, sebaceous glands, sweat glands, salivary glands, mammary glands, and tear glands. He also had complete anodontia and dry mouth. A multidisciplinary treatment was given to the patient with the collaboration of various health professionals. The child gained confidence and was relieved from the psychological impact following the prosthetic rehabilitation.

Skin Manifestation of Unsuspecting Prostate Cancer Detected by {sup 18}F-FDG PET/CT Performed To Assess Underlying Multiple Myeloma

Energy Technology Data Exchange (ETDEWEB)

AbAziz, Aini; Mahaletchumy, Thanuja; Chung, Junekey [Universiti Kebangsaan Malaysia Medical Centre, Kuala Lumpur (Malaysia)

2013-12-15

Skin metastases from either prostate adenocarcinoma or multiple myeloma rarely occur. We report the case of a 73-year-old man with multiple myeloma who presented with multiple subcutaneous nodules 3 years after his initial diagnosis. Fluorine-18 fluorodeoxyglucose (18F-FDG) positron emission tomography/computed tomography (PET/CT) imaging was suggestive of a concomitant second primary from the prostate. This case highlights not only a rare initial manifestation of prostate cancer, but also the role of 18F-FDG-PET/CT in detecting a clinically unsuspected second malignancy. It potentially corroborates the possible association of both diseases, as has been reported before.

Extremal dynamics: A unifying physical explanation of fractals, 1/f noise, and activated processes

International Nuclear Information System (INIS)

Miller, S.L.; Miller, W.M.; McWhorter, P.J.

1993-01-01

The properties of physical systems whose observable properties depend upon random exceedances of critical parameters are quantitatively examined. Using extreme value theory, the dynamical behavior of this broad class of systems is derived. This class of systems can exhibit two characteristic signatures: generalized activation when far from equilibrium and noise with a characteristic power spectrum (including 1/f ) when in quasiequilibrium. Fractal structures can also arise from these systems. It is thus demonstrated that generalized activation, noise, and fractals, in some cases, are simply different manifestations of a single common dynamical principle, which is termed ''extremal dynamics.'' Examples of physical processes governed by extremal dynamics are discussed, including data loss of nonvolatile memories and dielectric breakdown

Rare Variants in Genes Encoding MuRF1 and MuRF2 Are Modifiers of Hypertrophic Cardiomyopathy

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Ming Su

2014-05-01

Full Text Available Modifier genes contribute to the diverse clinical manifestations of hypertrophic cardiomyopathy (HCM, but are still largely unknown. Muscle ring finger (MuRF proteins are a class of muscle-specific ubiquitin E3-ligases that appear to modulate cardiac mass and function by regulating the ubiquitin-proteasome system. In this study we screened all the three members of the MuRF family, MuRF1, MuRF2 and MuRF3, in 594 unrelated HCM patients and 307 healthy controls by targeted resequencing. Identified rare variants were confirmed by capillary Sanger sequencing. The prevalence of rare variants in both MuRF1 and MuRF2 in HCM patients was higher than that in control subjects (MuRF1 13/594 (2.2% vs. 1/307 (0.3%, p = 0.04; MuRF2 22/594 (3.7% vs. 2/307 (0.7%; p = 0.007. Patients with rare variants in MuRF1 or MuRF2 were younger (p = 0.04 and had greater maximum left ventricular wall thickness (p = 0.006 than those without such variants. Mutations in genes encoding sarcomere proteins were present in 19 (55.9% of the 34 HCM patients with rare variants in MuRF1 and MuRF2. These data strongly supported that rare variants in MuRF1 and MuRF2 are associated with higher penetrance and more severe clinical manifestations of HCM. The findings suggest that dysregulation of the ubiquitin-proteasome system contributes to the pathogenesis of HCM.

Periodic Paralysis and Encephalopathy as Initial Manifestations of Graves' Disease: Case Report and Review of the Literature.

Science.gov (United States)

Tsironis, Theocharis; Tychalas, Athanasios; Kiourtidis, Dimitrios; Kountouras, Jannis; Xiromerisiou, Georgia; Rudolf, Jobst; Deretzi, Georgia

2017-07-01

Thyrotoxic periodic paralysis (TPP) is an uncommon complication of Graves' disease, characterized by the triad of acute hypokalemia without total body potassium deficit, episodic muscle paralysis, and thyrotoxicosis. Graves' encephalopathy is an extremely rare form of encephalopathy associated with autoimmune thyroid disease (EAATD), characterized by neuropsychiatric symptoms, increased antithyroid antibodies and cerebrospinal fluid protein concentration, nonspecific electroencephalogram abnormalities, and cortico-responsiveness. Coexistence of both these complications in the same patient has not been reported before. We herein present a 48-year-old white male patient with TPP and encephalopathy as initial presentations of Graves' disease. Flaccid tetraparesis was reversed a few hours after potassium level correction and the patient did not suffer any relapse with the successful pharmaceutical management of the thyroid function. One month later, the patient presented with dizziness and behavioral symptoms, such as inappropriate laughter and anger. Brain magnetic resonance imaging revealed meningeal enhancement and cerebrospinal fluid analysis showed a mild protein increase, with a blood-brain barrier disruption. With the suspicion of EAATD, the patient was treated with high doses of corticosteroids and improved dramatically. To our knowledge this is the first reported coexistence of potentially treatable TPP and EAATD as initial neurological manifestations of Graves' disease, thereby underscoring the necessity of suspicion of possible underlying Graves' disease in patients with acute paralysis and encephalopathy of unclear origin.

Chondroma of Falx: Case Report of a Rare Condition

Directory of Open Access Journals (Sweden)

Shahryar Shahriarian

2012-03-01

Full Text Available Chondroma is a benign tumor which mostly occurs in extremities but also sometimes in brain. Most intracranial chondromas arise from skull base, but chondroma of falx origin is a rare circumstance. Indeed, the intracranial chondromas rise from falx is mostly in relation with syndromic disorders such as Mafuccis syndrome or Olliers syndrome. Here, we reported a rare case of falxian intracranial chondroma in a young man who has normal physical examination and no signs of any syndromic disorder. The goal of this paper was to raise awareness about chondromas and suggest that chondroma be ruled out in any patient with masses arising from falx.

Symptomatic Parietal Intradiploic Encephalocele—A Case Report and Literature Review

Science.gov (United States)

Shi, Chen; Flores, Bruno; Fisher, Stephen; Barnett, Samuel L

2017-01-01

Encephalocele is a rare condition that consists of herniation of cerebral matter through openings of dura and skull. A majority of encephaloceles are congenital and manifest in childhood. We present a case of a 45-year-old man presenting with contralateral hemiparesis and found to have an extremely rare phenomenon of a symptomatic posttraumatic parietal intradiploic encephalocele (IE) manifesting 36 years following pediatric traumatic head injury. Computed tomography and magnetic resonance imaging confirmed herniation of brain tissue into the intradiploic space. Surgical treatment with reduction of the encephalocele achieved near resolution of preoperative hemiparesis on follow-up. The pathogenesis and a literature review of IE are discussed. PMID:28316901

Cecal volvulus: a rare cause of bowel obstruction in a pediatric patient diagnosed pre-operatively by conventional imaging studies

International Nuclear Information System (INIS)

Vo, Nghia J.; O'Hara, Sara M.; Alonso, Maria H.

2005-01-01

Cecal volvulus is an acute surgical condition that is extremely rare in children, with a mortality rate of up to 40%. The clinical symptoms are often non-specific, and pediatric patients frequently have neurological deficits with associated communication difficulties, making the clinical diagnosis extremely challenging. Conventional radiographic imaging studies play a key role in the prospective diagnosis in children. We report a rare case of cecal volvulus in a 12-year-old boy who was diagnosed pre-operatively by abdominal radiographs and a contrast enema. (orig.)

Cecal volvulus: a rare cause of bowel obstruction in a pediatric patient diagnosed pre-operatively by conventional imaging studies

Energy Technology Data Exchange (ETDEWEB)

Vo, Nghia J.; O' Hara, Sara M. [Cincinnati Children' s Hospital Medical Center, Department of Radiology, Cincinnati (United States); Alonso, Maria H. [Cincinnati Children' s Hospital Medical Center, Division of Pediatric and Thoracic Surgery, Cincinnati, Ohio (United States)

2005-11-01

Cecal volvulus is an acute surgical condition that is extremely rare in children, with a mortality rate of up to 40%. The clinical symptoms are often non-specific, and pediatric patients frequently have neurological deficits with associated communication difficulties, making the clinical diagnosis extremely challenging. Conventional radiographic imaging studies play a key role in the prospective diagnosis in children. We report a rare case of cecal volvulus in a 12-year-old boy who was diagnosed pre-operatively by abdominal radiographs and a contrast enema. (orig.)

Low-grade myofibroblastic sarcoma of the larynx: A rare entity with review of literature

Directory of Open Access Journals (Sweden)

Divya Khosla

2013-01-01

Full Text Available Mesenchymal neoplasms of the larynx are rare and make up approximately 0.3% to 1.0% of all malignancies at this location. Low grade myofibroblastic sarcoma (LGMS of larynx is a rare entity. We describe a rare case of LGMS of larynx who presented with complaint of hoarseness of voice. The patient was treated with total laryngectomy plus partial pharyngectomy followed by post-operative radiotherapy. Histopathologically, the lesion was composed of spindle cells that manifested variable cellular anaplasia and expressed smooth muscle actin (SMA and focally S-100.One of the resection limits was involved so patient was given post-operative radiotherapy. The patient is alive and disease free 14 months after surgery. The characteristic clinical, histopathological features and treatment of this case are described with a literature review.

Skin Manifestations of Endocrine Diseases.

Science.gov (United States)

Demirkesen, Cuyan

2015-01-01

Endocrine diseases may result in changes in cutaneous function and morphology, which cause various skin manifestations, including nonspecific or pathognomonic signs. Some of these manifestations are already known dermatologic diseases with only increased frequency in this patient group. As a result the skin may the play role of a screen displaying endocrine disorders, either due to hormone excess or deficiency. Awareness of the skin manifestations may permit prompt and adequate approach to the patients, and therefore facilitate the early diagnosis of the endocrine disease and even be life saving. Some of these manifestations may be recognized clinically, but sometimes they need to be confirmed histopathologically. In this article, many endocrine diseases and their associated skin lesions will be reviewed briefly.

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

Science.gov (United States)

Feeser, Dianne L

2011-01-01

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

Hydrocephalus: a rare initial manifestation of sporadic intramedullary hemangioblastoma : Intramedullary hemangioblastoma presenting as hydrocephalus.

Science.gov (United States)

Morais, Barbara Albuquerque; Cardeal, Daniel Dante; Ribeiro E Ribeiro, Renan; Frassetto, Fernando Pereira; Andrade, Fernanda Goncalves; Matushita, Hamilton; Teixeira, Manoel Jacobsen

2017-08-01

Intramedullary hemangioblastomas are rare benign vascular tumors, infrequent in pediatric patients. Clinical symptoms vary according to the age of presentation, tumor size, location, and concomitant syringomyelia. This is the second reported case of hemangioblastoma presenting with acute hydrocephalus. A 3-month-old infant with acute hydrocephalus was asymptomatic after a ventriculoperitoneal shunt was placed. She returned 3 months later with irritability, acute paraplegia, and respiratory distress. Magnetic resonance imaging (MRI) showed an intramedullary T8-T9 tumor with syringomyelia. She underwent surgical resection with good results during the 6-month follow-up. Intramedullary tumors may present as hydrocephalus and other nonspecific symptoms, with invariably delayed diagnosis in children, but must be considered in suspicious cases.

A Case of Autoimmune Polyglandular Syndrome (APS) Type II with Hypothyroidism, Hypoadrenalism, and Celiac Disease - A Rare Combination.

Science.gov (United States)

Lakhotia, Manoj; Pahadia, Hans Raj; Kumar, Harish; Singh, Jagdish; Tak, Sandeep

2015-04-01

Autoimmune Polyglandular syndrome (APS) are rare condition characterised by presence of immune dysfunction of two or more endocrine glands and other non-endocrine organs. APS is divided into 2 major subtypes based on age of presentation, pattern of disease combinations and mode of inheritance. APS 1(juvenile) usually manifest in early adolescence or in infancy. It is characterised by multiple endocrinal deficiency with mucocutaneous candidiasis and ectodermal dystrophy. Of the endocrine diseases, hypoparathyroidism form an important component followed by Addison's disease, type 1A diabetes, hypogonadism and thyroid disease. On the other hand APS II usually manifest in 3rd or 4th decade of life with female preponderance. Endocrine diseases commonly include autoimmune thyroid disease (graves or autoimmune thyroiditis), type 1A diabetes, and Addison's disease. Hypoparathyroidism is of rare occurrence and there is no mucocutaneous candidiasis. We report here a case of APS type II in a 29-year-old male who initially presented with hypothyroidism, which was soon followed by Addison's disease. The involvement of thyroid gland preceding the involvement of adrenal is of rare occurrence. The patient also had celiac disease which makes the combination further uncommon.

Intussusception due to a cecal duplication cyst: a rare cause of acute abdomen. Case report.

Science.gov (United States)

Corroppolo, M; Zampieri, N; Erculiani, E; Cecchetto, M; Camoglio, F S

2007-01-01

Duplications of the alimentary tract are rare congenital anomalies. The ileum is the most common site, whereas rectal, duodenal, gastric and cecal duplications are extremely rare. Duplication cysts of the cecum, in a neonate, are even rarer, with only 19 cases reported in medical literature to date. We report a case of intestinal intussusception due to a cecal duplication cyst.

Graves' disease presenting as pyrexia of unknown origin.

OpenAIRE

Shaked, Y.; Samra, Y.; Zwas, S. T.

1988-01-01

Fever is a common clinical manifestation of inflammatory processes of the thyroid and thyroid crisis. On the other hand, fever alone as a presenting symptom of thyrotoxicosis, without other manifestations, is extremely rare. A female patient is described in whom fever persisted for two months prior to hospitalization, but without clinical symptoms or signs to lead to suspicion of thyroid disease. After exhaustive investigation it was found that the patient was suffering from hyperthyroidism. ...

Dimorphic anemia and mental depression as a result of systemic manifestations of generalized aggressive periodontitis: A pioneer case report

Directory of Open Access Journals (Sweden)

Ajay Mahajan

2017-01-01

Full Text Available Generalized aggressive periodontitis (GAP is a rare form of periodontitis resulting in early loss of teeth. Most of the clinical evidence available in literature focuses on the diagnosis and management aspects of GAP. Systemic manifestations of GAP have been reported infrequently. To the best of our knowledge, the present case report is the first-ever evidence providing a possible mechanism and link between GAP, dimorphic anemia, and mental depression suggesting that dimorphic anemia and mental depression are probable systemic manifestations of GAP. A young female reported with her father to the hospital with a complaint of pain in her oral cavity and lack of desire to eat. On thorough examination, GAP with dimorphic anemia and mental depression were diagnosed. Periodontal treatment along with nutritional supplements was prescribed. An improvement was noticed in the patient's condition after a follow-up period of 6 months. Systemic manifestations of GAP should include the diagnoses of dimorphic anemia and mental depression and should be treated accordingly.

Lymphoepithelial carcinoma: a case report of a rare tumor of the larynx.

Science.gov (United States)

Hammas, Nawal; Benmansour, Najib; El Alami El Amine, Mohamed Nour-Dine; Chbani, Laila; El Fatemi, Hind

2017-01-01

Lymphoepithelial carcinoma is a tumor mostly diagnosed in the nasopharynx, but it has also been described in a variety of nonnasopharyngeal sites. It is extremely rare in the larynx and should be distinguished from squamous cell carcinoma. Therefore, it must be known by clinicians, pathologists and oncologists. In this case report, we discuss its etiopathogeny, its epidemiological, clinical, pathological and therapeutic aspects, and its outcome. An 81-year-old Morrocan man, smoker for 40 years, presented with a 1 year history of dysphonia, dyspnea and dysphagia. Laryngoscopy showed a mass occupying supraglottic, glottic and subglottic levels of the larynx. Cervico-thoracic computed tomography scan showed a laryngeal wall thickening with cervical lymphadenopathy. Laryngeal biopsy was performed. Microscopic analysis and immunohistochemistry confirmed the diagnosis of laryngeal lymphoepithelial carcinoma. Immunostaining for LMP1 was negative. Laryngeal lymphoepithelial carcinoma is an extremely rare and an aggressive tumor. It is rarely associated with the EBV. It must be regarded as a distinct entity. Radiotherapy is advisable as the unique therapy for local tumor. A correct diagnosis and a close collaboration between the pathologist and clinicians is mandatory for an optimal treatment strategy.

Granulomatous slack skin. Histopathology diagnosis preceding clinical manifestations by 12 years.

Science.gov (United States)

Goldsztajn, Karen O; Moritz Trope, Beatriz; Ribeiro Lenzi, Maria Elisa; Cuzzi, Tullia; Ramos-E-Silva, Marcia

2012-12-31

Granulomatous slack skin is a very rare subtype of T-cell cutaneous lymphoma, characterized by the slow development of cutaneous sagging, especially on flexural areas. Its behavior is indolent and the treatment, in the majority of cases, disappointing. We report a 54-year-old black patient with granulomatous slack skin, who at the beginning of the investigation showed intense xeroderma and generalized lymph node enlargement. The diagnosis was established based on histopathologic findings long before the disease's characteristic clinical presentation appeared. During the twelve years of follow-up, the clinical manifestation evolved to marked skin looseness, most predominant in flexural regions, illustrating the clinical hallmark of granulomatous slack skin, long after first histological abnormalities were observed.

Status Epilepticus as an Initial Manifestation of Neurosyphilis: A Case Report

Directory of Open Access Journals (Sweden)

Chien-Hsun Li

2006-08-01

Full Text Available Seizures and focal neurologic deficits may be the complications of neurosyphilis, but status epilepticus as a presenting picture of neurosyphilis is rare. We describe a 41-year-old man with an acute onset of expressive dysphasia, followed by persistent seizure state and severe complications of systemic medical problems. An extensive laboratory evaluation confirmed the diagnosis of neurosyphilis and diabetes mellitus. Brain magnetic resonance imaging showed edematous change in the left cingulate gyrus, left temporal lobe, and peri-Rolandic area, which suggested an inflammatory process. Due to varied clinical manifestations of neurosyphilis, we underscore the importance of considering neurosyphilis among the possible causes of status epilepticus and any central nervous system diseases.

Rare Infratentorial and Supratentorial Localization of Juvenile Angiofibroma: A Case Report.

Science.gov (United States)

Pašalić, Ivan; Trninić, Ines; Nemir, Jakob; Jednačak, Hrvoje; Žarković, Kamelija; Mrak, Goran

2016-01-01

Angiofibromas are rare tumors of the head and neck that mostly occur in the sphenopalatine region. We present a case of angiofibroma in a young male patient with an unusual and extremely rare localization, which to our knowledge has not been described before. It was situated in the tentorium and spread to the supratentorial and infratentorial regions. The patient initially presented with symptoms of increased intracranial pressure. After a diagnostic evaluation was done, the whole tumor was successfully removed using the supratentorial and infratentorial approach and the microsurgical technique. © 2016 S. Karger AG, Basel.

Linear verrucous hemangioma-a rare case and dermoscopic clues to diagnosis.

Science.gov (United States)

Dhanta, Aditi; Chauhan, Payal; Meena, Dilip; Hazarika, Neirita

2018-01-01

Verrucous hemangioma (VH) is a rare, congenital and localized vascular malformation, which usually presents as warty, bluish, vascular papules, plaques, or nodules, mainly on the lower extremities. Linear presentation of the disease is rare. A deep biopsy is necessary to confirm the clinical diagnosis by histopathological examination, with dermoscopy acting as a useful tool for evaluating the precise vascular structure. Here, we report on a 13-year-old female child with linear VH presenting over her foot since infancy and dermoscopic findings of VH along with the clinical-pathologic features.

[Manifestation of first branchial anomaly:56 cases reportrhinitis].

Science.gov (United States)

Zhang, B; Chen, L S; Huang, S L; Liang, L; Wu, P N; Zhang, S Y; L, Z M; Liang, L

2016-09-05

Objective: To sum up and conclude manifestation of congenital first branchial anomaly(CFBCA). Method: The clinical data of 56 patients from 2005 to 2015 in our hospital were retrospective reviewed. Result: Manifestation:mass without pain(26.8%),repeated sore and discharge(71.4%),otological symptom(external auditory discharge､hearing loss,28.6%).Eleven cases bacterial sample showed positive result,and most of them show pseudomonas aeruginosa and staphylococcus aureus.Auricular endoscopy typically performed stricture of external auditory canal,cholesteatoma samples accumulated in ear canal,fistula at the conjunction of the bone and cartilage and tympanic membranous attachment.Typical performance of CT(MRI)was that there were cystic,lobulated or tubular abnormal shadow related with ear canal in Pochet's triangle area whose cyst wall or pipe wall could been enhanced in enhanced CT(MRI) scans,and part of that could be connected with skin.The statistical difference between type Oslen and Work and clinical characteristics( P <0.01),and the relationship between type Oslen and Work( P <0.01).Most of Work Ⅰ were cyst type,and these two type often had no infected symptom.Most of them were young patients.Most of Work Ⅱ were sinus and fistula type ,and these two type often had infected symptom.Most of them were teenagers.Part of patients of type Work Ⅱ showed tympanic membranous attachment. Conclusion: CFBCA was rare,and it is more common in young patients and often in left part.It always performed as mass without pain､repeated sore and discharge､external auditory discharge.Most of Work Ⅰ were cyst type,and these two type often had no infected symptom and most of them were young patients .Most of Work Ⅱ were sinus and fistula type,and these two type often had infected symptom and most of them were teenagers.Auricular endoscopy,CT,MRI could help make diagnose.Doctors clinical need to differentiate it with related diseases according to different manifestations

Impact and frequency of extra-genitourinary manifestations of prune belly syndrome.

Science.gov (United States)

Grimsby, G M; Harrison, S M; Granberg, C F; Bernstein, I H; Baker, L A

2015-10-01

series, surviving individuals with PBS had a significantly higher incidence of orthopedic, gastrointestinal, and cardiopulmonary diagnoses than previously reported in PBS publications. From the patient/family QOL perspective, non-GU PBS manifestations negatively impact their QOL and treatment of these non-GU conditions improves their lives. As urologic surgeons for these medically complex patients, it is extremely important to be aware of and prepare for the high incidence of non-GU PBS comorbidities directly impacting the medical and surgical treatment and QOL of PBS patients and their families. Copyright © 2015 Journal of Pediatric Urology Company. Published by Elsevier Ltd. All rights reserved.

Thoracic manifestation of tuberculosis; Thorakale Manifestation der Tuberkulose

Energy Technology Data Exchange (ETDEWEB)

Kienzl-Palma, D.; Prosch, H. [Medizinische Universitaet Wien, Abteilung fuer Allgemeine Radiologie und Kinderradiologie, Universitaetsklinik fuer Radiologie und Nuklearmedizin, Wien (Austria)

2016-10-15

Tuberculosis (TB) is a granulomatous disease caused by Mycobacterium tuberculosis and transmission is via an airborne route by droplet infection. In the majority of cases patients have thoracic TB, which most frequently presents with hilar lymphadenopathy and pulmonary manifestation. Due to the rise in incidence of TB in central Europe to be expected over the coming years, it is essential to be acquainted with the radiological manifestations of pulmonary TB, particularly to be able to discriminate active from inactive TB. Due to the use of molecular techniques entailing DNA fingerprinting, the traditional classification of TB in primary and postprimary TB is being challenged. These genetic studies have revealed that variations in the clinical and radiographic appearance of TB are mainly affected by the immune status of the patients. Due to the low prevalence of TB in central Europe and the wide variation of radiological presentations, the diagnosis and therapy of TB is often delayed. In this article, the radiographic manifestations of thoracic TB are summarized and discussed. Together with the medical history and bacteriological tests, chest X-ray imaging and computed tomography (CT) play a major role not only in the detection of TB but also in the follow-up during and after therapy. Chest X-radiographs should be the primary diagnostic method in patients with suspected TB in screening as well as for diagnosis and therapy monitoring. The use of CT is more sensitive than chest radiographs and is frequently performed after chest radiographs to obtain detailed information about subtle parenchymal changes or lymph node manifestation. When active TB is suspected CT should be performed. Tree in bud, lobular consolidations, centrilobular nodules, cavities and ground-glass opacification are typical changes in active TB. (orig.) [German] Tuberkulose (Tbc) ist eine durch Troepfchen uebertragene granulomatoese Infektionserkrankung, die durch das Mycobacterium tuberculosis

Bilateral Upper Extremity DVT in a 43-Year-Old Man: Is It Thoracic Outlet Syndrome?!

Directory of Open Access Journals (Sweden)

Hadoun Jabri

2014-01-01

Full Text Available Recurrent deep venous thrombosis, involving bilateral upper extremities, is an extremely rare phenomenon. We are presenting a 43-year-old man who was diagnosed with left upper extremity deep vein thrombosis (UEDVT and was treated with anticoagulation and surgical decompression in 2004. 9 years later, he presented with right arm swelling and was diagnosed with right UEDVT using US venous Doppler. Venogram showed compression of the subclavian vein by the first rib, diagnosing thoracic outlet syndrome (TOS. He was treated with anticoagulation and local venolysis and later by surgical decompression of the subclavian vein. Bilateral UEDVT, as mentioned above, is an extremely rare condition that is uncommonly caused by TOS. To our knowledge, we are reporting the first case of bilateral UEDVT due to TOS. Diagnosis usually starts with US venous Doppler to detect the thrombosis, followed by the gold standard venogram to locate the area of obstruction and lyse the thrombus if needed. The ultimate treatment for TOS remains surgical decompression of the vascular bundle at the thoracic outlet.

Invited Article: Visualisation of extreme value events in optical communications

Science.gov (United States)

Derevyanko, Stanislav; Redyuk, Alexey; Vergeles, Sergey; Turitsyn, Sergei

2018-06-01

Fluctuations of a temporal signal propagating along long-haul transoceanic scale fiber links can be visualised in the spatio-temporal domain drawing visual analogy with ocean waves. Substantial overlapping of information symbols or use of multi-frequency signals leads to strong statistical deviations of local peak power from an average signal power level. We consider long-haul optical communication systems from this unusual angle, treating them as physical systems with a huge number of random statistical events, including extreme value fluctuations that potentially might affect the quality of data transmission. We apply the well-established concepts of adaptive wavefront shaping used in imaging through turbid medium to detect the detrimental phase modulated sequences in optical communications that can cause extreme power outages (rare optical waves of ultra-high amplitude) during propagation down the ultra-long fiber line. We illustrate the concept by a theoretical analysis of rare events of high-intensity fluctuations—optical freak waves, taking as an example an increasingly popular optical frequency division multiplexing data format where the problem of high peak to average power ratio is the most acute. We also show how such short living extreme value spikes in the optical data streams are affected by nonlinearity and demonstrate the negative impact of such events on the system performance.

To the fringe and back: Violent extremism and the psychology of deviance.

Science.gov (United States)

Kruglanski, Arie W; Jasko, Katarzyna; Chernikova, Marina; Dugas, Michelle; Webber, David

2017-04-01

We outline a general psychological theory of extremism and apply it to the special case of violent extremism (VE). Extremism is defined as motivated deviance from general behavioral norms and is assumed to stem from a shift from a balanced satisfaction of basic human needs afforded by moderation to a motivational imbalance wherein a given need dominates the others. Because motivational imbalance is difficult to sustain, only few individuals do, rendering extreme behavior relatively rare, hence deviant. Thus, individual dynamics translate into social patterns wherein majorities of individuals practice moderation, whereas extremism is the province of the few. Both extremism and moderation require the ability to successfully carry out the activities that these demand. Ability is partially determined by the activities' difficulty, controllable in part by external agents who promote or oppose extremism. Application of this general framework to VE identifies the specific need that animates it and offers broad guidelines for addressing this pernicious phenomenon. (PsycINFO Database Record (c) 2017 APA, all rights reserved).

Nevus of Ota with Rare Palatal Involvement: A Case Report with Emphasis on Differential Diagnosis

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Gaurav Sharma

2011-01-01

Full Text Available Nevus of Ota, a dermal melanocytic nevus, is rare in the Indian subcontinent. It presents as a brown, blue, or gray patch on the face and is within the distribution of the ophthalmic and maxillary branches of the trigeminal nerve. The oral cavity is infrequently involved in nevus of Ota. Only 11 cases have been documented in the English literature. We report a rare case of intraoral nevus of Ota in a 22-year-old male patient. This paper focuses on the differential diagnosis of oral manifestations of nevus of Ota to assist in proper followup to avert malignant transformation.

Self(ie)-esteem? – A manifestation of adolescent self-creating endeavours in the virtual space of Facebook

OpenAIRE

Lili Fejes-Vékássy

2017-01-01

In the centre of our interest stand the manifestations of adolescent self-creating endeavours in the virtual space of the social media portal called Facebook. Frequent self-photography (selfie) making, as a pronounced cultural feature of contemporary youth, and regular activity on Facebook handled as tightly connected factors; we propose that youngsters, bearing these attributes, have a different self-esteem than those adolescents who rarely or never take any photographs of themselves. In the...

AN EXTREMELY CARBON-RICH, EXTREMELY METAL-POOR STAR IN THE SEGUE 1 SYSTEM

International Nuclear Information System (INIS)

Norris, John E.; Yong, David; Gilmore, Gerard; Wyse, Rosemary F. G.; Frebel, Anna

2010-01-01

We report the analysis of high-resolution, high signal-to-noise ratio, spectra of an extremely metal-poor, extremely C-rich red giant, Seg 1-7, in Segue 1-described in the literature alternatively as an unusually extended globular cluster or an ultra-faint dwarf galaxy. The radial velocity of Seg 1-7 coincides precisely with the systemic velocity of Segue 1, and its chemical abundance signature of [Fe/H] = -3.52, [C/Fe] = +2.3, [N/Fe] = +0.8, [Na/Fe] = +0.53, [Mg/Fe] = +0.94, [Al/Fe] = +0.23, and [Ba/Fe] < -1.0 is similar to that of the rare and enigmatic class of Galactic halo objects designated CEMP-no (carbon-rich, extremely metal-poor with no enhancement (over solar ratios) of heavy neutron-capture elements). This is the first star in a Milky Way 'satellite' that unambiguously lies on the metal-poor, C-rich branch of the Aoki et al. bimodal distribution of field halo stars in the ([C/Fe], [Fe/H])-plane. Available data permit us only to identify Seg 1-7 as a member of an ultra-faint dwarf galaxy or as debris from the Sgr dwarf spheroidal galaxy. In either case, this demonstrates that at extremely low abundance, [Fe/H ] <-3.0, star formation and associated chemical evolution proceeded similarly in the progenitors of both the field halo and satellite systems. By extension, this is consistent with other recent suggestions that the most metal-poor dwarf spheroidal and ultra-faint dwarf satellites were the building blocks of the Galaxy's outer halo.

Fluorescence line-narrowing studies of rare earths in disordered solids

International Nuclear Information System (INIS)

Hall, D.W.

1982-01-01

This dissertation is made up of two experimental studies dealing with apparently diverse topics within the subject of rare earths (RE) in solids. The first study, described in Part II, concerns the vibrations of a disordered host material about an optically active rare-earth ion as manifested by vibrationally-assisted-electronic, or vibronic transitions. Part III of the dissertation describes an investigation of the influence of site anisotropy on the purely electronic, laser transition of Nd 3+ in glass. These two studies are bound together by the common experimental technique of laser-induced fluorescence line narrowing (FLN). By exciting fluorescence with monochromatic light of well-characterized polarization, one may select and observe the response of a single subset of the optically active ions and obtain information that is usually masked by the inhomogeneous nature of disordered solids

Gastrointestinal Manifestations of Cystic Fibrosis

Science.gov (United States)

2016-01-01

Cystic fibrosis has historically been considered a pulmonary disease, but with the increasing life expectancy of these patients, gastrointestinal manifestations are becoming more important. Furthermore, nutritional status is closely linked to pulmonary function and, thus, overall mortality. This article discusses gastrointestinal manifestations (which involve nutritional, pancreatic, hepatobiliary, and, in particular, gastrointestinal tract issues) of cystic fibrosis as well as management of the disease. In addition, the article discusses studies that have been critical to our understanding of gastrointestinal manifestations of cystic fibrosis. PMID:27330503

Small cell extraskeletal osteosarcoma: a rare case report

Directory of Open Access Journals (Sweden)

Neelam Sood

2014-01-01

Full Text Available Extraskeletal osteosarcoma is a rare malignant mesenchymal neoplasm and its small cell variant is one among the rarest variant. This article describes a 60-year-old woman presenting with a large, lobulated, painful mass in left thigh with associated history of trauma since 18 months. Her magnetic resonance imaging showed a variegated mixed intensity lesion with associated cystic degeneration, necrosis and matrix arborizing nearby muscles. Fine needle aspiration cytology showed a small cell lesion with very scant osteoid. Tumor was excised and histopathological diagnosis was small cell osteosarcoma involving adjacent muscles and fat with sparing of lymph nodes. The aim of this article is to present the clinical, radiological, cyto-histological and immunohistochemical features of this extremely rare lesion.

Permanent neonatal diabetes mellitus - a case report of a rare cause ...

African Journals Online (AJOL)

Diabetes mellitus is a metabolic disease characterised by chronically high glucose levels. Genetic factors have been implicated in the aetiology following mutations in a single gene. An extremely rare form of diabetes mellitus is monogenic diabetes, a subset of which is permanent neonatal diabetes, and is usually ...

A rare case of acute intermittent porphyria with ichthyosis vulgaris in a young boy

Directory of Open Access Journals (Sweden)

Garima Agrawal Varshney

2018-01-01

Full Text Available Acute intermittent porphyria (AIP and ichthyosis vulgaris both are autosomal dominant disorders with incomplete penetrance caused by the deficiency of porphobilinogen deaminase enzyme and filaggrin protein, respectively. We report a rare case of a 9-year-old boy having two genetic diseases with an unclear association. An acute attack of AIP is characterized by gastrointestinal symptoms and neuropsychiatric manifestations. Although rare in the first decade of life, the presence of reddish urine with a typical presentation such as abdominal pain, hypertension, seizure, and paresthesias lead us to the diagnosis of AIP. The precipitating factor in the present case was prolonged fasting in Ramadan.

Loose anagen hair syndrome with diffuse woolly hair phenotype: A rare association

Directory of Open Access Journals (Sweden)

Arshdeep

2016-01-01

Full Text Available Loose anagen hair syndrome (LAHS is an underestimated cause of noncicatricial alopecia among children, manifesting as thin, sparse or fine hair. We report a case of LAHS clinically presenting as diffuse woolly hair, an association rarely described in the literature. In addition, we review the clinical as well as genetic link between these two enigmatic hair disorders and hypothesize that both may be associated in a yet unknown manner.

A Rare Complication of the Thyroid Malignancies: Jugular Vein Invasion

International Nuclear Information System (INIS)

Dikici, Atilla Süleyman; Yıldırım, Onur; Er, Mehmet Emin; Kılıç, Fahrettin; Tutar, Onur; Kantarcı, Fatih; Mihmanlı, Ismail

2015-01-01

Unilateral invasion of the internal jugular vein (IJV) after subtotal thyroidectomy caused by local recurrence of papillary thyroid carcinoma is extremely rare. We report a case of papillary thyroid carcinoma which invades IJV with hypervascular tumor thrombus. We report a case of a 52-year-old woman with a history of previous thyroid operation who presented with a 2-month history of a painless, growing, hard, solitary mass on the left side of the neck. Clinical examination revealed also ipsilateral cervical lymphadenopathy. Radiological examination showed a necrotic and cystic mass arising from the operated area extending and invading the left jugular vein wall with hypervascular tumor thrombus. Cytological examination of the mass confirmed a papillary thyroid carcinoma (PTC) and enlarged metastatic lymph nodes. Therefore, total thyroidectomy with left neck dissection and segmental resection of the left internal jugular vein were performed, and the tumor thrombus was cleared successfully. Invasion of IJV with hypervascular tumor thrombosis is an extremely rare condition in papillary thyroid carcinoma. Thrombosis of IJV is probably underdiagnosed. Early-stage diagnosis is important for long-term survival rates

A Fourier analysis of extreme events

DEFF Research Database (Denmark)

Mikosch, Thomas Valentin; Zhao, Yuwei

2014-01-01

The extremogram is an asymptotic correlogram for extreme events constructed from a regularly varying stationary sequence. In this paper, we define a frequency domain analog of the correlogram: a periodogram generated from a suitable sequence of indicator functions of rare events. We derive basic ...... properties of the periodogram such as the asymptotic independence at the Fourier frequencies and use this property to show that weighted versions of the periodogram are consistent estimators of a spectral density derived from the extremogram....

Sarcoidosis: radiographic manifestations in the nails and distal phalanges

Energy Technology Data Exchange (ETDEWEB)

Albers, Brittany K.; Garner, Hillary W. [Mayo Clinic, Department of Radiology, Jacksonville, FL (United States); Sluzevich, Jason C. [Mayo Clinic, Department of Dermatology, Jacksonville, FL (United States)

2016-05-15

Sarcoidosis is a granulomatous disease which can affect multiple organ systems. Clinical and radiologic manifestations depend on the organ system involved and the chronicity of disease. Nail involvement in sarcoidosis is rare, but is clinically relevant as it indicates chronic systemic disease. Nail abnormalities can be identified radiographically, and when seen in patients with known or suspected sarcoidosis, should prompt careful evaluation of the underlying bone for osseous involvement. We describe a case of sarcoidosis with radiographic findings in the nails and distal phalangeal tufts, which were indicative of nail and osseous sarcoid involvement and strongly supported the presence of chronic systemic disease. Although the nail findings resolved clinically and on radiographs after treatment, the osseous findings showed only minimal improvement. To our knowledge, the radiographic findings of nail sarcoidosis have not been previously addressed in the literature. (orig.)

Sarcoidosis: radiographic manifestations in the nails and distal phalanges

International Nuclear Information System (INIS)

Albers, Brittany K.; Garner, Hillary W.; Sluzevich, Jason C.

2016-01-01

Sarcoidosis is a granulomatous disease which can affect multiple organ systems. Clinical and radiologic manifestations depend on the organ system involved and the chronicity of disease. Nail involvement in sarcoidosis is rare, but is clinically relevant as it indicates chronic systemic disease. Nail abnormalities can be identified radiographically, and when seen in patients with known or suspected sarcoidosis, should prompt careful evaluation of the underlying bone for osseous involvement. We describe a case of sarcoidosis with radiographic findings in the nails and distal phalangeal tufts, which were indicative of nail and osseous sarcoid involvement and strongly supported the presence of chronic systemic disease. Although the nail findings resolved clinically and on radiographs after treatment, the osseous findings showed only minimal improvement. To our knowledge, the radiographic findings of nail sarcoidosis have not been previously addressed in the literature. (orig.)

X-linked adult-onset adrenoleukodystrophy: Psychiatric and neurological manifestations.

Science.gov (United States)

Shamim, Daniah; Alleyne, Karen

2017-01-01

Adult-onset adrenoleukodystrophy is a rare x-linked inborn error of metabolism occurring predominantly in males with onset in early 30s. Here, we report a 34-year-old male with first signs of disease in early 20s manifesting as a pure psychiatric disorder. Prior to onset of neurological symptoms, this patient demonstrated a schizophrenia and bipolar-like presentation. The disease progressed over the next 10-13 years and his memory and motor problems became evident around the age of 33 years. Subsequently, diagnostic testing showed the typical magnetic resonance imaging and lab findings for adult-onset adrenoleukodystrophy. This case highlights adult-onset adrenoleukodystrophy which may present as a pure psychiatric disturbance in early adulthood and briefly discusses the prolonged time between the onset of psychiatric symptoms and the onset of neurological disease.

Clinical manifestations of scrub typhus.

Science.gov (United States)

Rajapakse, Senaka; Weeratunga, Praveen; Sivayoganathan, Sriharan; Fernando, Sumadhya Deepika

2017-02-01

The mite-borne rickettsial zoonosis scrub typhus is widely prevalent in parts of Southeast and Far East Asia, and northern Australia. The disease is an acute febrile illness, associated with rash and often an eschar, which responds dramatically to treatment with antibiotics. In some cases it results in a serious illness leading to multiple organ involvement and death. The disease manifestations are thought to result from a systemic vasculitis, caused by both direct effects of the organisms as well as an exaggerated immune response, although little is understood about its pathogenesis. A wide spectrum of clinical manifestations, affecting nearly every organ system, have been described with scrub typhus. Some of these manifestations are serious and life threatening. In this systematic review, we summarise the typical and atypical manifestations of scrub typhus reported in the literature. Awareness of these unusual manifestations will hopefully guide clinicians towards diagnosing the condition early, and initiating early appropriate antibiotics and other supportive measures. © The Author 2017. Published by Oxford University Press on behalf of Royal Society of Tropical Medicine and Hygiene. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com.

Marfan syndrome masked by Down syndrome?

NARCIS (Netherlands)

Vis, J.C.; Engelen, K. van; Timmermans, J.; Hamel, B.C.J.; Mulder, B.J.

2009-01-01

Down syndrome is the most common chromosomal abnormality. A simultaneous occurrence with Marfan syndrome is extremely rare. We present a case of a 28-year-old female with Down syndrome and a mutation in the fibrillin-1 gene. The patient showed strikingly few manifestations of Marfan syndrome.

Tuberculosis tenosynovitis of the extensor tendons of the wrist

OpenAIRE

Mrabet, Dalila; Ouenniche, Kmar; Mizouni, Habiba; Ounaies, Mouna; Khémiri, Chékib; Sahli, Héla; Sellami, Slaheddine

2011-01-01

Mycobacterial tuberculous tenosynovitis of the extensor tendon sheath is an extremely rare manifestation of extrapulmonary tuberculosis. The diagnosis may be easily delayed because of its non-specific clinical signs. We report a new case of tuberculous tenosynovitis of the extensor without concomitant pulmonary tuberculosis or documented immunodeficiency.

A rare case of post-splenectomy gastric volvulus managed by laparoscopic anterior gastropexy

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Rahul Amreesh Gupta

2017-01-01

Full Text Available 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.

Primary Follicular Lymphoma of the Common Bile Duct Mimicking Cholangiocarcinoma

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Khaled Youssef Elbanna

2014-01-01

Full Text Available Primary non-Hodgkin′s lymphoma of the common bile duct is extremely rare. We present a case with history of inflammatory bowel disease and clinical manifestations of obstructive jaundice. Abdominal magnetic resonance imaging with magnetic resonance cholangiopancreatography (MRCP was done and demonstrated tight stricture at the middle part of common bile duct, and radiological findings were supportive of extra-hepatic cholangiocarcinoma. Whipple′s procedure was performed and the case was histopathologically proven to be non-Hodgkin′s lymphoma of follicular subtype involving the common bile duct. Lymphoma of the hepatobiliary system is usually present as secondary manifestation of systemic malignant lymphoma. However, primary malignant lymphomas arising from the hepatobiliary tree are extremely rare. The radiological appearance of common bile duct lymphoma is very similar to cholangiocarcinoma, making preoperative diagnosis very difficult, as in our present case. We also compare the imaging findings of our case to those seen in reported cases of follicular lymphoma of the common bile duct.

Giant Interfrontal Encephalocele in an Infant: A Rare Entity.

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Faheem, Mohd; Singh, Sunil Kumar; Ojha, Bal Krishna; Chandra, Anil; Srivastava, Chhitij; Jaiswal, Manish; Zeeshan, Qazi

2016-01-01

Interfrontal encephalocele is one of the rare varieties of anterior encephalocele, and a giant interfrontal encephalocele is extremely rare. The authors could find only one case report of giant interfrontal encephalocele in the literature. Anterior encephaloceles are more prevalent in South-East Asia and some northern parts of India. Giant encephalocele poses a great challenge to neurosurgeons and neuroanesthetists during surgery, as these infants usually have a low birth weight and a large sac, thus making the infant prone to hypothermia and blood loss among other risks. We encountered a patient with a giant interfrontal encephalocele aged 1 month. The rarity of this case prompted us to this report. © 2016 S. Karger AG, Basel.

[Lyme disease--clinical manifestations and treatment].

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Stock, Ingo

2016-05-01

Lyme disease (Lyme borreliosis) is a systemic infectious disease that can present in a variety of clinical manifestations. The disease is caused by a group of spirochaetes--Borrelia burgdorferi sensu lato or Lyme borrelia--that are transmitted to humans by the bite of Ixodes ticks. Lyme disease is the most common arthropode-borne infectious disease in many European countries including Germany. Early localized infection is typically manifested by an erythema migrans skin lesion, in rarer cases as a borrelial lymphocytoma. The most common early disseminated manifestation is (early) neuroborreliosis. In adults, neuroborreliosis appears typically as meningoradiculoneuritis. Neuroborreliosis in children, however, is typically manifested by meningitis. In addition, multiple erythema migrans lesions and Lyme carditis occur relatively frequently. The most common manifestation oflate Lyme disease is Lyme arthritis. Early manifestations (and usually also late manifestations) of Lyme disease can be treated successfully by application of suitable antibacterial agents. For the treatment of Lyme disease, doxycycline, certain penicillins such as amoxicillin and some cephalosporins (ceftriaxone, cefotaxime, cefuroxime axetil) are recommended in current guidelines. A major challenge is the treatment of chronic, non-specific disorders, i. e., posttreatment Lyme disease syndrome and "chronic Lyme disease". Prevention of Lyme disease is mainly accomplished by protecting against tick bites. Prophylactic administration of doxycycline after tick bites is generally not recommended in Germany. There is no vaccine available for human beings.

Primary chondrosarcoma of breast - cytology with histopathological correlation: A rare case report with review of literature

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Sankappa P. Sinhasan

2014-01-01

Full Text Available Malignant mesenchymal tumors of the breast other than angiosarcoma are extremely rare and comprise <0.5% of breast tumors. Primary chondrosarcoma of the breast is an extremely rare entity and only 10 cases are reported as single case reports in literature until date. A diagnosis of primary mammary sarcoma can be established only after excluding metaplastic carcinomas and malignant phyllodes by extensive sampling for evidence of in situ or invasive carcinoma. Here, we report a primary chondrosarcoma of breast in a 55-year-old lady diagnosed precisely on fine-needle aspiration cytology and confirmed by histopatholigcal examination after total mastectomy. We emphasize on diagnostic difficulties encountered in cytology smears and discuss differential diagnoses.

Metabolic bone disease as a presenting manifestation of primary Sjögren′s syndrome: Three cases and review of literature

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Deepak Khandelwal

2011-01-01

Full Text Available Primary Sjögren′s syndrome (pSS is a chronic autoimmune disease characterized by a progressive lymphocytic infiltration of the exocrine glands with varying degrees of systemic involvement. Chronic inflammation compromises the glands′ function that leads to dry symptoms in the mouth/eyes. Renal involvement is a well recognized extraglandular manifestation of pSS. Metabolic bone disease (MBD, however, rarely occurs as the primary manifestation of a renal tubule disorder due to pSS. To the best of our knowledge there are only 6 reported cases of metabolic bone disease as the primary manifestation of pSS to date. Four of these had distal renal tubular acidosis (RTA, and 2 had a combined picture of distal and proximal tubular dysfunction. We herein present our experience of 3 cases who presented to us with a clinical picture suggestive of MBD. While investigating these patients, we found evidence of RTA, which was found to be secondary to pSS.

Cerebrotendinous xanthomatosis (a rare lipid storage disorder): a case report.

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Razi, Syed Mohd; Gupta, Abhinav Kumar; Gupta, Deepak Chand; Gutch, Manish; Gupta, Keshav Kumar; Usman, Syeda Iqra

2016-04-19

Cerebrotendinous xanthomatosis is a very rare autosomal recessive lipid storage disorder affecting bile acid biosynthesis. It is manifested by subtle neurological and non-neurological symptoms due to abnormal tissue lipid deposition. Diagnosis is usually delayed but early diagnosis and replacement therapy can prevent devastating neurological sequelae. We present a case of a 25-year-old Asian Indian woman who presented with gait difficulty, fusiform swellings of bilateral tendo-Achilles and infrapatellar tendons, along with history of bilateral cataract surgery 1 year earlier. The diagnosis was made on the basis of clinical, biochemical, imaging, and histopathological analysis and replacement therapy was started. The peculiarity of the present case is the absence of any neurological manifestations which are usually the early clues to the diagnosis of cerebrotendinous xanthomatosis. The present case report emphasizes the fact that early age bilateral cataracts along with bilateral tendo-Achilles xanthomas can be early pointers toward the diagnosis of cerebrotendinous xanthomatosis.

Morbus Behçet - a rare disease in Central Europe.

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Woźniacka, Anna; Sysa-Jędrzejowska, Anna; Jurowski, Piotr; Jabłkowski, Maciej; Kot, Marek

2015-12-10

Behçet's disease (BD) is a multiorgan inflammatory disease of complex and not entirely elucidated etiology, which was originally diagnosed in patients with aphthous stomatitis, genital ulcerations and ocular manifestations. The entity is endemic in countries of Eastern and Central Asia, especially Turkey and Iran, but rarely seen in Central Europe. As there are no specific diagnostic laboratory tests or histopathologic findings which confirm the preliminary diagnosis, the final diagnosis should be based on clinical criteria. Frequently a definitive diagnosis is established within several years or months after the first manifestations appear. The increased number of cases, recently described worldwide also in the Polish population, indicates that the disease could spread out of endemic areas. The aim of this manuscript is to present the clinical picture, diagnosis criteria and therapeutic approaches of this "international disease" which currently is observed not only in emigrants from Asia but also in native Polish citizens.

Probability estimation of rare extreme events in the case of small samples: Technique and examples of analysis of earthquake catalogs

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Pisarenko, V. F.; Rodkin, M. V.; Rukavishnikova, T. A.

2017-11-01

The most general approach to studying the recurrence law in the area of the rare largest events is associated with the use of limit law theorems of the theory of extreme values. In this paper, we use the Generalized Pareto Distribution (GPD). The unknown GPD parameters are typically determined by the method of maximal likelihood (ML). However, the ML estimation is only optimal for the case of fairly large samples (>200-300), whereas in many practical important cases, there are only dozens of large events. It is shown that in the case of a small number of events, the highest accuracy in the case of using the GPD is provided by the method of quantiles (MQs). In order to illustrate the obtained methodical results, we have formed the compiled data sets characterizing the tails of the distributions for typical subduction zones, regions of intracontinental seismicity, and for the zones of midoceanic (MO) ridges. This approach paves the way for designing a new method for seismic risk assessment. Here, instead of the unstable characteristics—the uppermost possible magnitude M max—it is recommended to use the quantiles of the distribution of random maxima for a future time interval. The results of calculating such quantiles are presented.

Task Force on Catastrophic Antiphospholipid Syndrome (APS) and Non-criteria APS Manifestations (II): thrombocytopenia and skin manifestations.

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Cervera, R; Tektonidou, M G; Espinosa, G; Cabral, A R; González, E B; Erkan, D; Vadya, S; Adrogué, H E; Solomon, M; Zandman-Goddard, G; Shoenfeld, Y

2011-02-01

The objectives of the 'Task Force on Catastrophic Antiphospholipid Syndrome (APS) and Non-criteria APS Manifestations' were to assess the clinical utility of the international consensus statement on classification criteria and treatment guidelines for the catastrophic APS, to identify and grade the studies that analyze the relationship between the antiphospholipid antibodies and the non-criteria APS manifestations, and to present the current evidence regarding the accuracy of these non-criteria APS manifestations for the detection of patients with APS. This article summarizes the studies analyzed on thrombocytopenia and skin manifestations, and presents the recommendations elaborated by the Task Force after this analysis.

Soft-Tissue Chondroma of Anterior Gingiva: A Rare Entity

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Dhana Lakshmi Jeyasivanesan

2018-01-01

Full Text Available Soft-tissue chondroma is a rare, benign, slow-growing tumor made up of heterotopic cartilaginous tissue. It occurs most commonly in the third and fourth decades in the hands and feet. Oral soft-tissue chondromas are uncommon and soft-tissue chondroma of gingiva is extremely uncommon. Here, we report an unusual case of soft-tissue chondroma of gingiva in a 50-year-old woman.

Manifestations and management of lymphogranuloma venereum.

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White, John A

2009-02-01

This review was prompted by a sustained outbreak of lymphogranuloma venereum that has been observed among men who have sex with men (MSM) worldwide since 2004. Recent developments in the epidemiology, diagnosis and management of the infection are summarized. Between the early 1980s and 2003, lymphogranuloma venereum was rarely seen in the developed world. In 2003, a cluster of cases was seen in the Netherlands occurring mostly in HIV-positive MSM with high levels of sexual risk. With the assistance of novel molecular diagnostic techniques, more than a thousand cases of Chlamydia trachomatis L2 serovar disease have now been reported in MSM worldwide. Almost all have presented with rectal infection, usually manifesting as severe proctitis, with ulcer adenopathy syndrome seldom seen. Oral doxycycline remains the recommended treatment and has proven effective in the recent outbreak. Conflicting data exist regarding the prevalence of asymptomatic infection, and our understanding of the exact modes of transmission remains incomplete. Lymphogranuloma venereum appears to have reestablished endemicity among MSM populations in many industrialized nations. In the relative absence of recent publications from its traditional endemic regions it can be assumed that these populations remain afflicted by the infection as well.

Kindler syndrome - a rare type of hereditary epidermolysis bullosa

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V. I. Albanova

2015-01-01

Full Text Available The Kindler syndrome is one of the types of hereditary epidermolysis bullosa with its onset related to mutations of the KIND1 gene. The authors describe a case of a family with three members suffering from this rare disease. All of these patients have typical clinical manifestations of the Kindler syndrome such as the formation of blisters on the skin and mucous membranes right after the birth, scarring with the formation of contractures, pseudosyndactyly, microstomia and ankyloglossia, progressive poikiloderma, photosensibility, affections of the gastrointestinal tract - dysphagia, esophagostenosis, stool disorders, dental pathology, phimosis vaginalis in women.

Uptake of rare earth elements by dryopteris erythrosora (autumn fern)

International Nuclear Information System (INIS)

Ozaki, Takuo; Enomoto, Shuichi

2001-01-01

Mechanisms of uptake of rare earth elements (REEs) were investigated, particularly those by REE accumulator species (autumn fern). Rare earth elements are practically insoluble under natural conditions, suggesting some unknown mechanisms in REE accumulator species. In the present investigation, two notable phenomena were observed. (1) Concerning the ionic-radius dependence of REE uptake by leaves, nonaccumulator species showed an extremely high uptake for Y compared with the adjacent-ionic-radius REEs in the multitracer, while accumulator species showed no anomaly. (2) REE uptake by autumn fern was influenced by the addition of chelating chemical reagents in the uptake solution, while no effect was observed for nonaccumulator species. (author)

Extremity Soft Tissue Sarcoma: A Review of 19 Cases. | Eyesan ...

African Journals Online (AJOL)

Background: Although soft tissue sarcoma is a rare tumour, it accounts for a significant proportion of malignancies seen in many orthopaedic practices. The objectives of this study are to evaluate the pattern of presentation of extremity soft tissue sarcoma and the treatment outcome in our patients. Method: This is a 3 year ...

Extremely long posterior communicating artery diagnosed by MR angiography: report of two cases.

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Uchino, Akira; Suzuki, Chihiro; Tanaka, Masahiko

2015-07-01

We report two cases of an extremely long left posterior communicating artery (PCoA) diagnosed by magnetic resonance (MR) angiography. The PCoA arose from the normal point of the supraclinoid internal carotid artery and fused with the posterior cerebral artery (PCA) at its posterior ambient segment, forming an extremely long PCoA and extremely long precommunicating segment of the PCA. To our knowledge, this is the first report of such variation. Careful observation of MR angiographic images is important for detecting rare arterial variations. To identify these anomalous arteries on MR angiography, partial maximum-intensity-projection images are useful.

Rapid adaptation of microalgae to bodies of water with extreme pollution from uranium mining: an explanation of how mesophilic organisms can rapidly colonise extremely toxic environments.

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García-Balboa, C; Baselga-Cervera, B; García-Sanchez, A; Igual, J M; Lopez-Rodas, V; Costas, E

2013-11-15

Extreme environments may support communities of microalgae living at the limits of their tolerance. It is usually assumed that these extreme environments are inhabited by extremophile species. However, global anthropogenic environmental changes are generating new extreme environments, such as mining-effluent pools of residual waters from uranium mining with high U levels, acidity and radioactivity in Salamanca (Spain). Certain microalgal species have rapidly adapted to these extreme waters (uranium mining in this area began in 1960). Experiments have demonstrated that physiological acclimatisation would be unable to achieve adaptation. In contrast, rapid genetic adaptation was observed in waters ostensibly lethal to microalgae by means of rare spontaneous mutations that occurred prior to the exposure to effluent waters from uranium mining. However, adaptation to the most extreme conditions was only possible after recombination through sexual mating because adaptation requires more than one mutation. Microalgae living in extreme environments could be the descendants of pre-selective mutants that confer significant adaptive value to extreme contamination. These "lucky mutants" could allow for the evolutionary rescue of populations faced with rapid environmental change. Copyright © 2013 Elsevier B.V. All rights reserved.

Violent and Non-Violent Extremism: Two Sides of the Same Coin?

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Alex P. Schmid

2014-05-01

Full Text Available In this Research Paper, Research Fellow Dr. Alex P. Schmid seeks to clarify some conceptual issues that tend to obscure the debate about how best to counter violent extremism. The main focus of this Research Paper is on obtaining a clearer understanding of what “Islamist extremism” entails in the context of the ongoing debate on allegedly “acceptable” non-violent extremists and “unacceptable” violent extremists. The author discusses a number of conceptualisations of religious extremism in the context of liberal democracies and also distinguishes, inter alia, between merely “not (yet violent” militancy and principled non-violent political activism in the Gandhian tradition. The author argues that the distinction between “non-violent extremism” and “violent extremism” is not a valid one. The paper provides a set of twenty indicators of extremism that can be used as an instrument for monitoring extremist statements and actions, with an eye to challenging and countering such non-democratic manifestations.

Idiopathic pleuroparenchymal fibroelastosis, a rare entity of interstitial pneumonia: A case report

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Park, Jong Chun; Chae, Eun Jin; Song, Joon Seon [University of Ulsan College of Medicine, Asan Medical Center, Seou (Korea, Republic of)

2014-04-15

Idiopathic pleuroparenchymal fibroelastosis (IPPFE) is a recently described, very rare type of fibrotic interstitial lung disease predominantly involving subpleural areas of both upper lungs. IPPFE has distinctive radiologic and pathologic features: progressive subpleural opacity with fibrotic changes, predominantly in upper lungs, and dense elastic component on histology. We experienced one case of surgically confirmed IPPFE, with progression of radiologic findings on the serial CT examinations. We herein report the characteristic radiologic features of IPPFE with pathologic and clinical manifestations.

Primary Small Cell Neuroendocrine Carcinoma of Vagina: A Rare Case Report

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Jignasa N. Bhalodia

2011-01-01

Full Text Available Primary small cell neuroendocrine carcinoma of vagina is an extremely rare disease. There have been only 26 previously reported cases in literature. Here, we report a case of primary small cell neuroendocrine carcinoma of vagina. Immunohistochemistry (IHC showed tumor cells positive for synaptophysin, chromogranin, and neuron-specific enolase (NSE.

Health status evaluation in extremely premature infants

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M. Yu. Arkhipova

2016-01-01

Full Text Available The health status was analyzed in extremely preterm infants at a postconceptual age of 38–40 weeks and in the first year of life. All the infants in the analyzed group were shown to have respiratory disorders, severe perinatal CNS lesions, and the high incidence of bronchopulmonary dysplasia and infectious and inflammatory diseases. In the first year of life, these children belonged to a group of the frequently ill. Dysfunction of the digestive system and intestinal microflora and residual signs of rickets were detected in the majority of the patients; the manifestations of bronchopulmonary dysplasia persisted in 50%. 40% of the infants had disabling complications.

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

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Khairunnisak Misron

2017-08-01

Full Text Available 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.

Disseminated Intracranial Ewing’s Sarcoma in an Adult:A Rare and Difficult Diagnosis

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Emil Lou

2012-06-01

Full Text Available The Ewing sarcoma family of tumors comprises a rare class of cancers of mesenchymal origin. Cases of Ewing’s sarcoma in the central nervous system – specifically, intracranial Ewing’s – are extremely rare. Almost all reported cases have occurred in children. However, this rare presentation can also occur in the adult population. It is important to distinguish these tumors from primitive neuroectodermal tumors at the time of diagnosis. Testing for EWSR1(22q12 gene rearrangement using fluorescence in situ hybridization is a useful tool for making the distinction between these 2 similar but distinct entities. We present here the case of a middle-aged male patient with intracranial Ewing’s sarcoma, and discuss diagnostic challenges and potential new treatment approaches for this rare disease.

Ocular manifestations of dengue fever in an East Indian epidemic.

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Kapoor, Harpreet K; Bhai, Saloni; John, Mary; Xavier, Jai

2006-12-01

The incidence and geographic distribution of dengue has increased dramatically in recent years. Previously, ocular findings in dengue fever were considered rare. We report a spectrum of ocular manifestations of this potentially fatal disease and its association with laboratory parameters. 134 patients hospitalized with a diagnosis of dengue fever during an epidemic were included. Systemic and ophthalmic examinations were completed on all patients. The mean age was 31.3 years and 63.4% were males. All patients presented with fever. Six (4.5%) patients had retrobulbar pain and none of the patients presented with any visual complaints. Ocular findings were present in 54 (40.3%) patients. Subconjunctival haemorrhage was the commonest eye finding seen in 50 patients, of whom 84% had characteristic petechial type of haemorrhages. Fundus findings present in 10 (7.5%) patients included dilatation and tortuosity of vessels, superficial retinal haemorrhages, cotton-wool spots, and hard exudates; the macula, however, was spared in all patients. Only 6 of the patients with posterior segment involvement returned for follow-up examination and it was found that retinal changes had resolved without any specific treatment within 2 to 8 weeks time. Of all laboratory parameters evaluated, marked thrombocytopenia (platelet count petechial type, are a common manifestation of dengue infection. Dengue fever patients with marked thrombocytopenia are predisposed to spontaneous ocular haemorrhages.

Unusual late presentation of X-linked chronic granulomatous disease in an adult female with a somatic mosaic for a novel mutation in CYBB

NARCIS (Netherlands)

Wolach, Baruch; Scharf, Yitshak; Gavrieli, Ronit; de Boer, Martin; Roos, Dirk

2005-01-01

Most patients with chronic granulomatous disease (CGD) have mutations in the X-linked CYBB gene that encodes gp91(phox), a component of the phagocyte NADPH oxidase. The resulting X-linked form of CGD is usually manifested in boys. Rarely, X-CGD is encountered in female carriers with extreme

Extreme' vasculobiliary injuries: association with fundus-down cholecystectomy in severely inflamed gallbladders

NARCIS (Netherlands)

Strasberg, Steven M.; Gouma, Dirk J.

2012-01-01

Objectives: Extreme vasculobiliary injuries usually involve major hepatic arteries and portal veins. They are rare, but have severe consequences, including rapid infarction of the liver. The pathogenesis of these injuries is not well understood. The purpose of this study was to elucidate the

Clinical and biochemical manifestations of undifferentiated forms of connective tissue dysplasia in pregnant women with varicose veins of small pelvis

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N.M. Shibelgut

2010-03-01

Full Text Available Research objective is to define the pathogenesis of varicous veins of small pelvis in women. at Ultrasonic investigation of venous system of small pelvis has been carried out in 290 pregnant women. It revealed 190 patients with varicose veins of small pelvis (VVSP. By means of V.M. Jakovleva's technique phenotypic menifestation of connective tissue dysplasia was determined in all pregnant women. Biochemical manifestations of connective tissue dysplasia were identified by sialic acid level in blood serum, daily excretion of glycosaminoglycans and oxyproline. High frequency of clinical and biochemical manifestations of undifferentiated forms of connective tissue dysplasia was revealed in pregnant women with VVSP. Patients with VVSP developed tooth and jaw, facial and locomotor damages. Patients with VVSP characterized by visceral undifferentiated forms of connective tissue dysplasia demonstrated by refraction involvement, ventral hernias, flat feet, varicous veins of lower extremities, hypermobile syndrome, mitral valve prolapse of different degree. Biochemical manifestations of undifferentiated forms of connective tissue dysplasia in pregnant women with VVSP were insignificant

A Rare Case of Aneurysmal Bone Cyst in the Paranasal Sinus

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Seyyed Mostafa Hashemi

2015-09-01

Full Text Available Introduction: Aneurysmal Bone cysts (ABC are extremely rare in the head and neck region and even rarer in sinuses.  ABC is a benign multicystic mass that is locally-destructive and rapidly expandable. Hemorrhagic fluid content (like in this case and septated appearance are the characteristic feature of ABC. Established treatment options for ABCs include sclerotherapy, embolization, radiotherapy, simple curettage, surgical excision, or a combination of methods.   Case Report: In this article, a 5 year-old boy with a recurrent nasal mass is presented. The patient was finally diagnosed with this rare entity: ABC of the paranasal sinuses. The patient was treated through complete surgical removal.   Conclusion:  ABC can be considered as a rare differential diagnosis of recurrent nasal hemorrhagic mass in a pediatric population.

Manifestation of Particle Morphology on the Mechanical Response of a Granular Ensemble

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Murthy, Tejas; Kandasami, Ramesh

We present the effect of particle morphology (grain shape) on the mechanical response of granular materials at an ensemble level. We chose two model systems with extreme differences in morphology, i.e. spherical glass ballotini and angular sand in our experimental programme. We conducted a series of continuum elemental tests under these model materials reconstituted to the same packing. We arrive at the failure locus on the octahedral plane experimentally for these two systems. The ballotini shows increased dilation at the outset of the test, however, at large strains, the particle rearrangement in the angular sand and the increased interlocking leads to higher strength. The effect of individual particle morphology is manifested in both the increased friction angle and a larger sized failure locus in stress space with increase in angularity. The stresses developed in these two model materials are also accompanied by intriguing volume change behaviour. The glass ballotini despite a lower strength presents a predominantly dilative response while the angular sand shows showing a contractive response. Such an ensemble manifestation of individual particle morphology is useful in interpreting the extensive DEM simulations that are available in literature.

The presentation and evaluation of a case of systemic Lupus erythematosus and anthiphospholipid antibody syndrome with primary clinical manifestation of chorea

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Asgary S

1998-06-01

Full Text Available Manifestation of chorea in patients with systemic lupus erythematosus (SLE and antiphospholipid antibody syndrome (APA synd. is not common. Moreover, primary presentation of the disease with chorea is rare and only few such cases are reported in literature in recent years. We report here the case of a 28 year old woman who was first seen at the age of 10 with clinical manifestations of chorea. Later she developed deep vein thrombosis, thrombocytpenia, stroke, cardiac valve involvement and recurrent abortions. Laboratory investigations confirmed the diagnosis of SLE and the presence of antiphospholipid antibodies. We present this patient as a case of SLE and antiphospholipid antibody syndrome with chorea being her primary clinical presentation

Multiple vertebral fractures in young man as first manifestation of systemic mastocytosis.

Science.gov (United States)

Carrasco Cubero, Carmen; Chamizo Carmona, Eugenio

Systemic mastocytosis (SM) is a clonal disease of mast cell progenitors from the bone marrow. The clinical picture varies from asymptomatic forms (indolent) to a highly aggressive form with a very short (mast cell leukemia) survival. Between 28-34% of patients with SM are related to bone condition at the time of diagnosis and 16% have symptomatic fractures. The presentation of SM as clinical vertebral fractures in young men is rare. Here, we describe a case of established osteoporosis as the only manifestation of SM. Copyright © 2016 Elsevier España, S.L.U. and Sociedad Española de Reumatología y Colegio Mexicano de Reumatología. All rights reserved.

Unusual manifestations of ectodermal dysplasia-syndactyly syndrome type I in two Yemeni siblings.

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Mohammad, Alshami

2015-01-15

Ectodermal dysplasias (EDs) are a group of genodermatoses characterized by malformations of tissues derived from the ectoderm, including the skin, its appendages (hair, nails, sweat glands), teeth, and the breasts. Ectodermal dysplasia syndactyly syndrome (EDSS) is a rare, newly described type of ED involving syndactyly. We report 2 Yemeni siblings with typical EDSS manifestations, including bilateral, partial cutaneous syndactyly of the fingers and toes; sparse, coarse, brittle scalp hair, eyebrows, and eyelashes; and conical, widely spaced teeth with enamel notches. In addition, the siblings presented with other features hitherto not described for this syndrome, such as adermatoglyphia, onychogryphosis, hypoplastic widely spaced nipples, hypoplastic thumbs, and red scalp hair.

[Respiratory manifestations of yellow nail syndrome: report of two cases and literature review].

Science.gov (United States)

Li, S; Huang, H; Xu, K; Xu, Z J

2018-03-12

Objective: To describe the clinical characteristics of respiratory manifestations of yellow nail syndrome. Methods: We conducted a retrospective analysis of 2 patients with respiratory diseases associated with yellow nail syndrome. Their clinical and chest radiological data were collected. We searched PubMed, Wanfang and CNKI databases with the keywords "yellow nail syndrome, yellow nail and lung" in Chinese and English. And the relevant literatures, including 6 articles in Chinese and 81 articles in English, were reviewed. Results: Our 2 patients were male, one 60 years old and the other 76. Typical yellow nails were present in their fingers, and one of them also showed toe yellow nails. One patient was admitted for refractory respiratory infection and he was diagnosed with diffuse bronchiectasis. The respiratory symptoms could be relieved with antibiotics according to the results of sputum microbiological analysis. The other patient was admitted for cough and exertional dyspnea, and refractory pleural effusions were revealed bilaterally. He received repeated effusion drainage by thoracentesis, and Octreotide was tried recently. A total of 373 cases were reviewed in Chinese and English literatures. Pleural effusions (152 cases) and diffuse bronchiectasis (121 cases) were the most common reported respiratory manifestations. Lymphoedema was present in almost all cases with pleural effusion associated with yellow nail syndrome, and the effusion was usually exudative and lymphocyte predominant. Pleurodesis and decortication were effective for them. But, somatostatin analogues had been tried effectively for these patients recently. On the other hand, literatures showed that diffuse bronchiectasis in yellow nail syndrome was less severe than idiopathic diffuse bronchiectasis, and might benefit from long-term macrolide antibiotics. Conclusions: Yellow nail syndrome is a very rare disorder. Besides yellow nail, respiratory manifestations are the main clinical

Rare presentation of Kyrle′s disease in siblings

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Viswanathan Seethalakshmi

2008-01-01

Full Text Available Background: Kyrle′s disease is a rare variant of primary perforating dermatosis. Its occurrence in a familial setting, especially in children, is extremely uncommon. Similar appearing skin lesions have been described in adults, secondary to metabolic disorders, infective agents as well as exposure to chemicals. We present a rare case of this genodermatosis in two siblings. Materials and Methods: Two siblings of a non-consanguineous marriage came with generalized discrete papular lesions with a central keratotic plug. All biochemical and serological investigations were within normal limits. Serial sections of the biopsy revealed typical epidermal invaginations filled with parakeratotic debris and perforation into the dermis with accompanying granulomatous reaction. Results and Conclusions: A careful history, detailed routine investigations and serial sections of the skin biopsy are required to demonstrate the typical morphology and stages of evolution of Kyrle′s disease. This helps to differentiate the rare primary Kyrle′s disease from other primary and secondary keratotic lesions. Due to the familial occurrence, screening of relatives of an index case is recommended.

Male occult breast cancer with axillary lymph node metastasis as the first manifestation: A case report and literature review.

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Xu, Ruixin; Li, Jianbin; Zhang, Yingjie; Jing, Hongbiao; Zhu, Youzhe

2017-12-01

Occult breast cancer (OBC) is extremely rare in males with neither symptoms in the breast nor abnormalities upon imaging examination. This current case report presents a young male patient who was diagnosed with male OBC first manifesting as axillary lymph node metastasis. The physical and imaging examination showed no primary lesions in either breasts or in other organs. The pathological results revealed infiltrating ductal carcinoma in the axillary lymph nodes. Immunohistochemical (IHC) staining was negative for estrogen receptor (ER), progesterone receptor (PR), cytokeratin (CK)20 and thyroid transcription factor-1 (TTF-1), positive for CK7, gross cystic disease fluid protein-15 (GCDFP-15), epithelial membrane antigen (EMA) and carcinoembryonic antigen (CEA), and suspicious positive for human epidermal receptor-2 (Her-2). On basis of IHC markers, particularly such as CK7, CK20 and GCDFP-15, and eliminating other malignancies, male OBC was identified in spite of negativity for hormone receptors. The patient underwent left axillary lymph node dissection (ALND) but not mastectomy. After the surgery, the patient subsequently underwent chemotherapy and radiotherapy. The patient is currently being followed up without any signs of recurrence. Carefully imaging examination and pathological analysis were particularly essential in the diagnosis of male OBC. The guidelines for managing male OBC default to those of female OBC and male breast cancer. Copyright © 2017 The Authors. Published by Wolters Kluwer Health, Inc. All rights reserved.

Superior sagittal sinus thrombosis: a rare complication of nephrotic syndrome.

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Tullu M

1999-10-01

Full Text Available A two and half year-old-male child, known case of steroid responsive nephrotic syndrome presented with fever and vomiting of acute onset. He was diagnosed to have superior sagittal sinus thrombosis on a contrast computerised tomographic scan of brain. Recovery was complete without anticoagulant therapy. Superior sagittal sinus thrombosis is an extremely rare complication of nephrotic syndrome.

Spontaneous Superior Mesenteric Artery Branch Pseudoaneurysm: A Rare Case Report

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Mina Guirgis

Full Text Available : Background: Visceral arterial pseudoaneurysms (VAPAs are rare vascular entities with serious consequences. Traditionally, they are associated with trauma, infection, and inflammatory disease, or they can arise as a post-operative complication. Report: An 87 year old man presented with abdominal pain and was found to have a spontaneous VAPA on a computed tomography angiogram. Serial imaging 4 months previously had demonstrated no aneurysm. Between scans, warfarin was changed to apixaban for aortic valve replacement, but he had no other changes to any other medications. He required urgent endovascular coiling of the pseudoaneurysm, with satisfactory recovery and outcome. Discussion: VAPAs are extremely rare, with splenic artery VAPAs the most commonly reported. Regardless, fewer than 250 cases of splenic artery pseudoaneurysm have been reported. Superior mesenteric artery (SMA pseudoaneurysms are the rarest type of VAPAs. Early identification and urgent treatment are warranted because of the associated high mortality risk, with a 50% risk of rupture in any given VAPA. Treatment options range from open operation to endoscopic and endovascular procedures. Apixaban has been proposed to contribute to pseudoaneurysm formation by slow and continuous bleeding that results in the formation of the pseudoaneurysm. Conclusions: Spontaneous VAPAs are extremely rare and this is the first time a VAPA has been associated with the novel oral anticoagulant “apixaban”. Urgent management of any VAPAs is important because of the high risk of rupture and potential life threatening haemorrhage. Keywords: Visceral arterial pseudoaneurysm, Superior mesenteric artery, Apixaban, Coils

Radiographic manifestations of hypochondroplasia

Energy Technology Data Exchange (ETDEWEB)

Heselson, N G; Cremin, B J [Groote Schuur Hospital, Cape Town (South Africa); Beighton, P

1979-01-01

Hypochrondroplasia is an inherited skeletal dysplasia that resembles achondroplasia in mild degree. Radiographic manifestations encountered in 12 affected individuals in South Africa include slight shortening of all segments of the tubular bones, moderate caudal diminution of the lumbar interpedicular distances, increased lumbar lordosis with cacral tilt and distal prolongation of the fibular. Hypochondroplasia can be distinguished from other osteochondrodystrophies such as achondroplasia, pseudo-achondroplasia and metaphyseal chondroplasia by the recognition of it clinical and radiographic manifestations.

A rare complication of secondary hyperparathyroidism: Brown tumor of the maxilla and mandible

International Nuclear Information System (INIS)

Sumer, Pinar A.; Sumer, Mahmut; Arik, Nurol; Karogoz, Filiz

2004-01-01

Brown tumors are focal bone lesions caused by increased osteoclastic activity and fibroblastic proliferation encountered in primary or more rarely secondary hyperparathyroidism. Ninety-two percent of the patients undergoing dialysis develop secondary hyperparathyroidism. Of these, approximately 1.5% develops brown tumors. Brown tumors of hyperparathyroidism may appear in any bone but are frequently found in the facial bones and jaws, particularly in long-standing cases of the disease. As it becomes common for hyperparathyroidism to be detected earlier during the disease, the bony manifestations of the disease are rarely seen. The following report describes a case of brown tumor of the maxilla and mandible in a patient with renal insufficiency. This patient presented multiple skeletal lesions, which are uncommonly seen now a days. (author)

PRIMARY CONJUNCTIVAL TUBERCULOSIS – A RARE CASE REPORT

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Kulkarni Dinesh R, Sulegaon Ritesh V, Chulki Shashidhar F

2015-07-01

Full Text Available Tuberculosis is an endemic disease in India. Primary conjunctival tuberculosis is an uncommon condition and with better treatment of pulmonary tuberculosis it is now becoming extremely rare. Primary conjunctival Tuberculosis can present as unilateral conjunctivitis, hence laterality, chronicity and non-resolution of symptoms on treatment are indications for biopsy. In our patient conjunctival Tuberculosis was diagnosed on histopathology, which resulted in early implementation of antikochs’ treatment and complete resolution of the disease condition.

A rare case of spinal dural arteriovenous fistula

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Mariya Apostolova

2012-12-01

Full Text Available Spinal dural arteriovenous fistula (SDAVF is a rare vascular malformation of the spine. Only a limited number of cases of SDAVF have been reported in the current literature. We describe the case of a 74 year old male who presented with gradually progressive bilateral lower extremity weakness and bladder dysfunction and was subsequently diagnosed with SDAVF affecting both the thoracic and lumbar spine. The patient later underwent embolization with some improvement in his neurologic symptoms.

Bilateral macrodystrophia lipomatosa of the upper extremities with syndactyly and multiple lipomas

NARCIS (Netherlands)

van der Meer, Saskia; Nicolai, Jean-Philippe A.; Schut, Simone M.; Meek, Marcel F.

2011-01-01

Macrodystrophia lipomatosa is a rare disease that causes congenital local gigantism of part of an extremity, which is characterised by an increase in all mesenchymal elements, particularly fibroadipose tissue. This is the first report to our knowledge of a case of histologically confirmed bilateral

Funiculitis mimicking appendicitis: A rare culprit

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Lindsey L. Perea

2017-01-01

Full Text Available Acute appendicitis is an extremely common cause for pediatric admissions, most notably presenting with right lower quadrant pain. There are few other etiologies for a young male to have pain aside from appendicitis. We present a young boy who presented with right lower quadrant abdominal pain and fevers, but was found to have funiculitis. Funiculitis, or inflammation of the spermatic cord, is a very rare condition in the pediatric population, almost always occurring in the elderly with urinary flow conditions. We share our case to remind providers the importance of a full differential diagnosis.

Extreme Space Weather Events: From Cradle to Grave

Science.gov (United States)

Riley, Pete; Baker, Dan; Liu, Ying D.; Verronen, Pekka; Singer, Howard; Güdel, Manuel

2018-02-01

Extreme space weather events, while rare, can have a substantial impact on our technologically-dependent society. And, although such events have only occasionally been observed, through careful analysis of a wealth of space-based and ground-based observations, historical records, and extrapolations from more moderate events, we have developed a basic picture of the components required to produce them. Several key issues, however, remain unresolved. For example, what limits are imposed on the maximum size of such events? What are the likely societal consequences of a so-called "100-year" solar storm? In this review, we summarize our current scientific understanding about extreme space weather events as we follow several examples from the Sun, through the solar corona and inner heliosphere, across the magnetospheric boundary, into the ionosphere and atmosphere, into the Earth's lithosphere, and, finally, its impact on man-made structures and activities, such as spacecraft, GPS signals, radio communication, and the electric power grid. We describe preliminary attempts to provide probabilistic forecasts of extreme space weather phenomena, and we conclude by identifying several key areas that must be addressed if we are better able to understand, and, ultimately, predict extreme space weather events.

Ophthalmic manifestations of vitamin A and D deficiency in two autistic teenagers: case reports and a review of the literature.

LENUS (Irish Health Repository)

Duignan, Emma

2015-01-01

We describe the cases of 2 autistic children with ophthalmic and systemic manifestations of vitamin A deficiency due to food faddism. Although vitamin A deficiency is common in the developing world, reports in developed societies are rare. Our patients presented over a 1-year period. The patients were 14 and 13 years old at the time of presentation and were both found to have marked features of vitamin A deficiency related to unusual dietary habits. Anterior segment signs of xerophthalmia were present in both patients. In addition, patient 1 showed evidence of a rod-predominant retinopathy, which resolved with vitamin A supplementation. Due to its rare occurrence, hypovitaminosis A must be highlighted and anticipated in this cohort.

A case of thyrotoxic periodic paralysis as initial manifestation of Graves' disease in a 16-year-old Korean adolescent

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Se Yong Jung

2014-09-01

Full Text Available Thyrotoxic periodic paralysis (TPP is a rare complication of hyperthyroidism, with recurrent muscle paralysis and hypokalemia that are caused by an intracellular shift of potassium. TPP is relatively common in Asian males, but is extremely rare in children and adolescents, even for those of Asian descent. We describe a 16-year-old Korean adolescent presenting with a two-week history of episodic leg weakness in the morning. He showed sinus tachycardia, lower leg weakness, and hypokalemia. Thyroid function test showed hyperthyroidism, and thyroid ultrasonography revealed a diffuse enlarged thyroid with increased vascularity, consistent with Graves' disease. He was treated with β-adrenergic blocker and antithyroid drugs. He has been symptom free for one year, as his hyperthyroidism has been controlled well with antithyroid drugs. TPP should be considered in children and adolescents with acute paralysis of the lower extremities and hypokalemia.

Triple manifestation of extramedullary plasmacytoma in the upper airway: an unusual clinical entity.

LENUS (Irish Health Repository)

Morariu, I

2012-02-01

OBJECTIVE: We report an extremely rare case of extramedullary plasmacytoma. METHOD: Case report and review of the English-literature concerning extramedullary plasmacytoma and multiple myeloma. RESULT: We present an unusual case of multiple extramedullary plasmacytomas, which, over a protracted course of 30 years, presented on different occasions at three separate sites in the head and neck. The patient was managed surgically on all occasions, and was disease-free at the time of writing. CONCLUSION: Following review of the literature, we believe this to be the only case with this extremely unusual presentation. This case is noteworthy, not only because of the rarity of extramedullary plasmacytoma, but also because it highlights a number of important clinical issues. The diagnosis and management of extramedullary plasmacytoma require close cooperation between multiple disciplines.

Pancreas as Delayed Site of Metastasis from Papillary Thyroid Carcinoma

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Mutahir A. Tunio

2013-01-01

Full Text Available Introduction. Follicular variant (FV papillary thyroid carcinoma (PTC has aggressive biologic behavior as compared to classic variant (CV of PTC and frequently metastasizes to the lungs and bones. However, metastasis to the pancreas is extremely rare manifestation of FV-PTC. To date, only 9 cases of PTC have been reported in the literature. Pancreatic metastases from PTC usually remain asymptomatic or manifest as repeated abdominal aches. Associated obstructive jaundice is rare. Prognosis is variable with reported median survival from 16 to 46 months. Case Presentation. Herein we present a 67-year-old Saudi woman, who developed pancreatic metastases seven years after total thyroidectomy and neck dissection followed by radioactive iodine ablation (RAI for FV-PTC. Metastasectomy was performed by pancreaticoduodenectomy followed by sorafenib as genetic testing revealed a BRAF V600E mutation. She survived 32 months after the pancreatic metastasis diagnosis. Conclusion. Pancreatic metastases are rare manifestation of FV-PTC and are usually sign of extensive disease and conventional diagnostic tools may remain to reach the diagnosis.

Suprasellar ganglioglioma presenting with diabetes insipidus in a young boy: a rare clinical presentation.

Science.gov (United States)

Gupta, Ruchika; Suri, Vaishali; Arora, Raman; Sharma, Mehar C; Mishra, Shashwat; Singh, Manmohan; Sarkar, Chitra

2010-02-01

Gangliogliomas are rare tumors composed of an admixture of glial and neuronal components. These usually occur in young patients, who present with therapy-resistant seizures. Clinical presentation of ganglioglioma with diabetes insipidus is extremely rare with only one case reported earlier in the available literature. Due to this rarity, ganglioglioma is not considered in the differential diagnosis in a patient with diabetes insipidus. A 7-year boy presented with polyuria, polydipsia, and progressive visual loss for 18 months. Investigations revealed diabetes insipidus. Radiographic studies of the brain showed a solid and cystic mass in the suprasellar region effacing the third ventricle. Intraoperatively, diffuse thickening of bilateral optic nerves and optic chiasma was noted and a diagnosis of optic glioma was considered. A biopsy of the mass was taken, which on histopathological examination showed features of ganglioglioma. The patient was referred for further radiotherapy but was lost to follow-up. Diabetes insipidus as a presenting symptom of ganglioglioma is extremely rare. This benign tumor should be kept in mind in patients with central diabetes insipidus and a suprasellar mass lesion. This report describes the second such case in the literature.

Efficacy of Lower-Extremity Venous Thrombolysis in the Setting of Congenital Absence or Atresia of the Inferior Vena Cava

International Nuclear Information System (INIS)

Ganguli, Suvranu; Kalva, Sanjeeva; Oklu, Rahmi; Walker, T. Gregory; Datta, Neil; Grabowski, Eric F.; Wicky, Stephan

2012-01-01

Purpose: A rare but described risk factor for deep venous thrombosis (DVT), predominately in the young, is congenital agenesis or atresia of the inferior vena cava (IVC). The optimal management for DVT in this subset of patients is unknown. We evaluated the efficacy of pharmacomechanical catheter-directed thrombolysis (PCDT) followed by systemic anticoagulation in the treatment of acute lower-extremity DVT in the setting of congenital IVC agenesis or atresia. Materials and Methods: Between November of 2005 and May of 2010, six patients (three women [average age 21 years]) were referred to our department with acute lower-extremity DVT and subsequently found to have IVC agenesis or atresia on magnetic resonance imaging. A standardized technique for PCDT (the Angiojet Rheolytic Thrombectomy System followed by the EKOS Microsonic Accelerated Thrombolysis System) was used for all subjects. Successful thrombolysis was followed by systemic heparinization with transition to Coumadin or low molecular-weight heparin and compression stockings. Subjects were followed-up at 1, 3, and then every 6 months after the procedure with clinical assessment and bilateral lower-extremity venous ultrasound. Results: All PCDT procedures were technically successful. No venous stenting or angioplasty was performed. The average thrombolysis time was 28.6 h (range 12–72). Two patients experienced heparin-induced thrombocytopenia, and one patient developed a self-limited knee hemarthrosis, No patients were lost to follow-up. The average length of follow-up was 25.8 ± 20.2 months (range 3.8–54.8). No incidence of recurrent DVT was identified. There were no manifestations of postthrombotic syndrome. Conclusions: PCDT followed by systemic anticoagulation and the use of compression stockings appears to be safe and effective in relatively long-term follow-up treatment of patients who present with acute DVT and IVC agenesis or atresia.

Primary Pulmonary Ewing’s Sarcoma: Rare Cause of Superior Vena Cava Syndrome in Children

OpenAIRE

Mehra, Shibani; Atwal, Swapndeep Singh; Garga, Umesh Chandra

2014-01-01

Ewing’s sarcoma is a common malignant bone tumour presenting in children and young adults. Rarely extra- skeletal soft tissues and visceral organs can also be the site of origin of Ewing’s sarcoma. Primary pulmonary Ewing’s sarcoma is an extremely rare malignancy which occurs in the paediatric population. We report an unusual case of primary pulmonary Ewing’s sarcoma in a nine year old girl who presented with features of superior vena cava syndrome in the emergency department. The diagnosis w...

Atypical manifestation of parathyroid carcinoma with late-onset distant metastases

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MarinaTsoli

2017-10-01

Full Text Available Parathyroid carcinoma is an extremely rare endocrine malignancy that accounts for less than 1% of cases of primary hyperparathyroidism. We report a 44-year-old woman who presented with fatigue and diffuse bone pain. Laboratory findings revealed highly elevated serum calcium and parathyroid hormone (PTH levels and a 4.5 × 3 × 2.5 cm cystic lesion in the lower pole of the right thyroid lobe that was shown histologically to be a parathyroid carcinoma. Ten years later, the patient developed brain and pulmonary metastases and recurrence of PTH-related hypercalcemia. Treatment of hypercalcemia along with localized radiotherapy and various chemotherapy regimens failed to induce a biochemical or radiological response. In conclusion, parathyroid carcinoma is a rare neoplasia that may develop metastases even after prolonged follow-up, for which there is no evidence-based treatment besides surgery. Different chemotherapeutic schemes did not prove to be of any benefit in our case highlighting the need for registering such patients to better understand tumor biology and develop specific treatment.

Corresponding Relation between Warm Season Precipitation Extremes and Surface Air Temperature in South China

Institute of Scientific and Technical Information of China (English)

SUN; Wei; LI; Jian; YU; Ru-Cong

2013-01-01

Hourly data of 42 rain gauges over South China during 1966–2005 were used to analyze the corresponding relation between precipitation extremes and surface air temperature in the warm season(May to October).The results show that below 25℃,both daily and hourly precipitation extremes in South China increase with rising temperature.More extreme events transit to the two-time Clausius-Clapeyron(CC)relationship at lower temperatures.Daily as well as hourly precipitation extremes have a decreasing tendency nearly above 25℃,among which the decrease of hourly extremes is much more significant.In order to investigate the efects of rainfall durations,hourly precipitation extremes are presented by short duration and long duration precipitation,respectively.Results show that the dramatic decrease of hourly rainfall intensities above 25℃ is mainly caused by short duration precipitation,and long duration precipitation extremes rarely occur in South China when surface air temperature surpasses 28℃.

Robinow Syndrome: A Rare Case Report and Review of Literature

OpenAIRE

Soman, Cristalle; Lingappa, Ashok

2015-01-01

ABSTRACT Robinow syndrome is an extremely rare genetic disorder. Short-limbed dwarfism, abnormalities in the head, face, and external genitalia, as well as vertebral defects comprise its distinct features. This disorder exists in dominant and recessive patterns. Patients with the dominant pattern exhibit moderate symptoms. More physical characteristics and skeletal abnormalities characterize the recessive group. The syndrome is also known as Robinow-Silverman-Smith syndrome, Robinow dwarfism,...

Charge ordering in the rare earth manganates: the experimental situation

International Nuclear Information System (INIS)

Rao, C.N.R.; Cheetham, A.K.; Raveau, Bernard

2000-01-01

Charge-ordered phases of rare earth manganates are novel manifestations arising from interactions between the charge carriers and phonons, giving rise to the localization of carriers at specific sites in the lattice below a certain temperature. Accompanying this phenomenon, the Mn 3+ (e g ) orbitals and the associated lattice distortions also exhibit long range ordering (orbital ordering). What makes the manganates even more interesting is the occurrence of complex spin ordering related to anisotropic magnetic interactions. In this article, we discuss the emerging scenario of charge-ordered rare earth manganates in the light of specific case studies and highlight some of the new experimental findings related to spin, orbital and charge ordering. We also examine features such as the charge stripes and phase separation found experimentally in these materials, and discuss the factors that affect charge-ordering such as the size of A-site cations and magnetic and electric fields, as well as isotopic and chemical substitutions. (author)

Transfusion reaction in a case with the rare Bombay blood group

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Hayedeh Javadzadeh Shahshahani

2013-01-01

Full Text Available Bombay phenotype is extremely rare in Caucasian with an incidence of 1 in 250,000. When individuals with the Bombay phenotype need blood transfusion, they can receive only autologous blood or blood from another Bombay blood group. Transfusing blood group O red cells to them can cause a fatal hemolytic transfusion reaction. In this study, we report a case with the rare Bombay blood group that was misdiagnosed as the O blood group and developed a hemolytic transfusion reaction. This highlights the importance of both forward and reverse typing in ABO blood grouping and standard cross-matching and performing standard pretransfusion laboratory tests in hospital blood banks.

Primary tubercular caecal perforation: a rare clinical entity

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Moses Sonia

2010-03-01

Full Text Available Abstract Background Intestinal tuberculosis is a common problem in endemic areas, causing considerable morbidity and mortality. An isolated primary caecal perforation of tubercular origin is exceptionally uncommon. Case presentation We report the case of a 39 year old male who presented with features of perforation peritonitis, which on laparotomy revealed a caecal perforation with a dusky appendix. A standard right hemicolectomy with ileostomy and peritoneal toileting was done. Histopathology revealed multiple transmural caseating granulomas with Langerhans-type giant cells and acid-fast bacilli, consistent with tuberculosis, present only in the caecum. Conclusions We report this extremely rare presentation of primary caecal tuberculosis to sensitize the medical fraternity to its rare occurrence, which will be of paramount importance owing to the increasing incidence of tuberculosis all over the world, especially among the developing countries.

Use of a remote infrared thermography in experimental medicine at extreme influences

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Datsenko A.V.

2016-12-01

Full Text Available The study presents an analysis of published data on the use of remote infrared thermography in medicine and veterinary science and evaluated the main opportunities, methods and ways of thermovision registration in experimental medical studies on biological objects, including at extreme influences. The following resources of the bibliographic electronic databases had been used: eLibrary, PubMed, Clinical Key, Science. Now methods of infrared thermography in insufficient degree are used in experimental medicine, including when studying adverse biological effect of various harmful and dangerous extreme factors, which main manifestation, especially in the early period after exposure, are systemic microvascular disorders, determining the state of capacity of human biomodels. These dynamic remote ther-mographic studies of experimental biological objects can be used to evaluate disorders of the peripheral circulation, working capacity and an emotional condition of the biomodels exposed to extreme factors, including early after experimental studies in laboratory and field work.

Determination of contaminants in rare earth materials by prompt gamma activation analysis (PGAA)

International Nuclear Information System (INIS)

Perry, D.L.; English, G.A.; Firestone, R.B.; Molnar, G.L.; Revay, Zs.

2005-01-01

Prompt gamma activation analysis (PGAA) has been used to detect and quantify impurities in the analyses of rare earth (RE) oxides. The analytical results are discussed with respect to the importance of having a thorough identification and contaminant elements in these compounds regarding the function of the materials in their various applications. Also, the importance of using PGAA to analyze materials in support of other physico-chemical studies of the materials is discussed, including the study of extremely low concentrations of ions - such as the rare earth ions themselves - in bulk material matrices. (author)

A fast dynamic mode in rare earth based glasses

Energy Technology Data Exchange (ETDEWEB)

Zhao, L. Z.; Xue, R. J.; Zhu, Z. G.; Wang, W. H.; Bai, H. Y., E-mail: hybai@iphy.ac.cn [Institute of Physics, Chinese Academy of Sciences, Beijing 100190 (China); Ngai, K. L. [Dipartimento di Fisica, Università di Pisa, Largo B. Pontecorvo 3, I-56127 Pisa (Italy)

2016-05-28

Metallic glasses (MGs) usually exhibit only slow β-relaxation peak, and the signature of the fast dynamic is challenging to be observed experimentally in MGs. We report a general and unusual fast dynamic mode in a series of rare earth based MGs manifested as a distinct fast β′-relaxation peak in addition to slow β-relaxation and α-relaxation peaks. We show that the activation energy of the fast β′-relaxation is about 12RT{sub g} and is equivalent to the activation of localized flow event. The coupling of these dynamic processes as well as their relationship with glass transition and structural heterogeneity is discussed.

A trauma-like model of political extremism: psycho-political fault lines in Israel.

Science.gov (United States)

Laor, Nathaniel; Yanay-Shani, Alma; Wolmer, Leo; Khoury, Oula

2010-10-01

This study examines a trauma-like model of potentially violent political extremism among Jewish Israelis. We study the psychosocial characteristics of political extremists that may lie at the root of sociopolitical instability and assess personal (gender, stressful life events, Holocaust family background, and political activism) and psychological parameters (self- and political transcendence, perceived political threats, in/out-group identification ratio) that may predict readiness to engage in destructive political behavior. We examine the ideological zeal of various political groups, the relationship between the latter and perceived political threats, and the predictors of extreme political activism. Results showed that the extreme political poles displayed high level of ideological and morbid transcendence. Right extremists displayed higher perceived threats to physical existence and national identity. Left extremists scored highest on perceived moral integrity threat. Higher perceived threats to national identity and moral integrity, risk, and self-transcendence statistically explain morbid transcendence. When fear conjures up extremely skewed sociopolitical identifications across political boundaries, morbid transcendence may manifest itself in destructive political activity. © 2010 Association for Research in Nervous and Mental Disease.

Pulmonary manifestations of leptospirosis

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Sameer Gulati

2012-01-01

Full Text Available Leptospirosis has a spectrum of presentation which ranges from mild disease to a severe form comprising of jaundice and renal failure. Involvement of the lung can vary from subtle clinical features to deadly pulmonary hemorrhage and acute respiratory distress syndrome. Of late, it has been identified that leptospirosis can present atypically with predominant pulmonary manifestations. This can delay diagnosis making and hence optimum treatment. The purpose of this review is to bring together all the reported pulmonary manifestations of leptospirosis and the recent trends in the management.

Thermodynamics in 'Manifest Reality'

International Nuclear Information System (INIS)

Hankey, Alex

2010-01-01

D'Espagnat's proof that the universe is not a 'strongly objective reality' demands that all physical processes are reconsidered in that light. D'Espagnat suggests a 'Veiled Reality' as a suitable alternative. The most economical way to achieve that is to demand that 'information production' at a quantum level creates the basis for self-consistent perception of a world of macroscopic, 'manifest' entities, as opposed to self-existent objects. Such a 'manifest reality' fulfils both Wheeler's attempt at an 'IT-from-BIT' programme, and Zeilinger's suggestion that 'information is primary'.

New Trident Molecule with Phosphoric Acid Functionality for Trivalent Rare Earth Extraction

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Keisuke Ohto

2017-11-01

Full Text Available Tripodal extraction reagent with three phosphoric acid groups, together with the corresponding monopodal molecule has been prepared to investigate some metals extraction behavior, in particular, trivalent rare earth elements (REEs. The tripodal reagent exhibited extremely high selectivity for metals with high valency such as Zr(IV, In(III, Lu(III, and Fe(III. Tripodal reagent also exhibited exceptionally high extraction ability compared with the corresponding monopodal one in the extraction of trivalent rare earths. The result for the stoichiometry of tripodal reagent to heavy rare earths showed the inflection point between Er (2:1 for a ligand with ion and Tm (1:1. The extraction reactions were determined for all rare earths with both reagents. The extraction equilibrium constants (Kex, the separation factors (β, half pH values (pH1/2, difference half pH values (ΔpH1/2 for extraction of REEs with both reagents are estimated.

Cutaneous Silicone Granuloma Mimicking Breast Cancer after Ruptured Breast Implant

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Waseem Asim Ghulam El-Charnoubi

2011-01-01

Full Text Available Cutaneous manifestations due to migration of silicone from ruptured implants are rare. Migrated silicone with cutaneous involvement has been found in the chest wall, abdominal wall, and lower extremities. We describe a case of cutaneous silicone granuloma in the breast exhibiting unusual growth mimicking breast cancer after a ruptured implant.

Nance-Horan Syndrome: A Rare Case Report.

Science.gov (United States)

Sharma, Shambhu; Datta, Pankaj; Sabharwal, Janak Raj; Datta, Sonia

2017-01-01

Dentofacial anomalies may guide us to the diagnosis of many congenital and hereditary syndromes. A 9-year-old boy was diagnosed with Nance-Horan syndrome. This syndrome is an extremely rare X-linked genetic disorder which is entirely expressed in males with semi-dominant transmission which results from mutations occurring in male gametes. It is characterized by facial dysmorphism such as long face, prominent nose and mandibular prognathism, ocular abnormalities such as congenital cataract, microcornea, microphthalmia and strabismus, and dental anomalies including mulberry molars and screwdriver-shaped incisors. Heterozygous females inherit this disease and also suffer from this syndrome but in a milder form. Approximately one-third of the affected males show signs of developmental delay and intellectual abnormalities. This syndrome is very rare and the incidence of the disease has not been established so far. The present article describes the clinical and radiological features and the genetic implications of this syndrome.

Nance–Horan syndrome: A rare case report

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Shambhu Sharma

2017-01-01

Full Text Available Dentofacial anomalies may guide us to the diagnosis of many congenital and hereditary syndromes. A 9-year-old boy was diagnosed with Nance–Horan syndrome. This syndrome is an extremely rare X-linked genetic disorder which is entirely expressed in males with semi-dominant transmission which results from mutations occurring in male gametes. It is characterized by facial dysmorphism such as long face, prominent nose and mandibular prognathism, ocular abnormalities such as congenital cataract, microcornea, microphthalmia and strabismus, and dental anomalies including mulberry molars and screwdriver-shaped incisors. Heterozygous females inherit this disease and also suffer from this syndrome but in a milder form. Approximately one-third of the affected males show signs of developmental delay and intellectual abnormalities. This syndrome is very rare and the incidence of the disease has not been established so far. The present article describes the clinical and radiological features and the genetic implications of this syndrome.

Nance–Horan Syndrome: A Rare Case Report

Science.gov (United States)

Sharma, Shambhu; Datta, Pankaj; Sabharwal, Janak Raj; Datta, Sonia

2017-01-01

Dentofacial anomalies may guide us to the diagnosis of many congenital and hereditary syndromes. A 9-year-old boy was diagnosed with Nance–Horan syndrome. This syndrome is an extremely rare X-linked genetic disorder which is entirely expressed in males with semi-dominant transmission which results from mutations occurring in male gametes. It is characterized by facial dysmorphism such as long face, prominent nose and mandibular prognathism, ocular abnormalities such as congenital cataract, microcornea, microphthalmia and strabismus, and dental anomalies including mulberry molars and screwdriver-shaped incisors. Heterozygous females inherit this disease and also suffer from this syndrome but in a milder form. Approximately one-third of the affected males show signs of developmental delay and intellectual abnormalities. This syndrome is very rare and the incidence of the disease has not been established so far. The present article describes the clinical and radiological features and the genetic implications of this syndrome. PMID:29042737

ENTEROVIRUS INFECTION: VARIETY OF ETIOLOGICAL FACTORS AND CLINICAL MANIFESTATIONS

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O. I. Kanaeva

2014-01-01

Full Text Available Abstract. Enteroviruses are widely distributed human infectious pathogens. In spite of infection a disease does not manifest in majority number of cases. However, in some infected persons the different kind of symptoms can be observed; from common cold signs up to  aseptic (serous meningitis and myocarditis. Severe enteroviral cases with lethal outcomes are rarely reported. Ability of enteroviruses to cause large outbreaks and even epidemic distribution is very significant for health care systems. Taking in account a high genetic diversity of enteroviruses it is possible appearance of new highly pathogenic strains in the future. In some countries including the Russian Federation the permanent surveillance for enteroviral infections is provided besides of WHO polio elimination program. The laboratory diagnostics of enterovirus infections is complicated by numerous of pathogen serotypes. Thus, classical virological methods should be supported by molecular-biological tools to sequence pathogen genome and to define phylogenetic relations between different enterovirus strains.

Musculoskeletal manifestations of the antiphospholipid syndrome.

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Noureldine, M H A; Khamashta, M A; Merashli, M; Sabbouh, T; Hughes, G R V; Uthman, I

2016-04-01

The scope of clinical and laboratory manifestations of the antiphospholipid syndrome (APS) has increased dramatically since its discovery in 1983, where any organ system can be involved. Musculoskeletal complications are consistently reported in APS patients, not only causing morbidity and mortality, but also affecting their quality of life. We reviewed all English papers on APS involvement in the musculoskeletal system using Google Scholar and Pubmed; all reports are summarized in a table in this review. The spectrum of manifestations includes arthralgia/arthritis, avascular necrosis of bone, bone marrow necrosis, complex regional pain syndrome type-1, muscle infarction, non-traumatic fractures, and osteoporosis. Some of these manifestations were reported in good quality studies, some of which showed an association between aPL-positivity and the occurrence of these manifestations, while others were merely described in case reports. © The Author(s) 2016.

PRIMARY MULTILOCULAR HYDATID CYST OF NECK : A RARE CASE REPORT

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Deepak Ramraj

2015-02-01

Full Text Available Hydatid disease, also known as echinococcosis or hydatidosis , is an infectious disease caused by Echinococcus. Echinococcus granulosus is the most common Echinococcus species affecting human beings. It may affect any organ and tissue in the body, in particular the liver and lung. Musculoskeletal or soft tissue hyda tidosis accounts for about 0.5% 5% of all echinococcal infections in endemic areas, and is almost always secondary to the hepatic or pulmonary disease. Even in regions where echinococcosis is endemic, hydatidosis of cervicofacial region is extremely rare. Herein, we present exceptionally rare case in a 55 year old female with an unusual localization of primary multilocular hydatid cyst in the right supraclavicular region of the neck. A high index of suspicion is required to diagnose hydatid cyst in rare loc ations like this. Hydatid cyst should be considered in differential diagnosis of benign swellings of head and neck region, so that it can be managed during surgery to prevent acute anaphylaxis

[Study of echocardiographic parameters of rheumatoid arthritis black African without clinically evident cardiovascular manifestations: A cross-sectional study of 73 cases in Senegal].

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Dodo-Siddo, M N; Diao, M; Ndiaye, M B; Ndongo, S; Kane, A; Mbaye, A; Bodian, M; Sarr, S A; Sarr, M; Ba, S; Diop, T M

2016-04-01

Research of cardiac involvement in patients with rheumatoid arthritis can prevent complications and place in a logical secondary prevention. The objective of this study was to investigate the echocardiographic parameters in a population of Senegalese patients with rheumatoid arthritis without clinically evident cardiovascular manifestations. We conducted a descriptive cross-sectional study, which included prospectively from outpatients in the internal medicine department of university hospital center Aristide Le Dantec in Dakar, Senegal, with a diagnosis of rheumatoid arthritis without clinically evident cardiovascular disease. It focused on a sample of 73 patients of both sexes aged at least 18 years. Following clinical examination, we conducted laboratory tests (CRP, fibrinogen, ESR, rheumatoid factors: Latex and Waaler-Rose, anti-CCP, antinuclear factors and anti-ENA antibodies), ECG, echocardiography standard. Data were analyzed using a descriptive study of the different variables with the calculation of proportions for categorical variables, and the positional parameters and dispersion for quantitative variables. A total of 73 patients with rheumatoid arthritis without obvious cardiac events and meeting the criteria of definition of the ACR 1987 were included in the study. The mean age was 44.17±14.43 years with extremes of 18 and 75 years. The mean duration of RA was 5.93±4.78 years. The concept of family inflammatory arthritis was reported in 35.60% of cases and almost one in six patients had at least a factor of cardiovascular risk (16.96%). The abnormalities found in Doppler echocardiography were dominated by diastolic LV dysfunction (42.46%), increased left ventricular mass in 35.61%. Valvular leaks of variable grades were highlighted regarding all orifices but were rarely significant. The realization of echocardiography in patients with rheumatoid arthritis without clinically evident cardiovascular manifestations helps to highlight cardiovascular

Whole Exome Sequencing Identified a Novel Heterozygous Mutation in HMBS Gene in a Chinese Patient With Acute Intermittent Porphyria With Rare Type of Mild Anemia

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Yongjiang Zheng

2018-04-01

Full Text Available Acute intermittent porphyria (AIP is a rare hereditary metabolic disease with an autosomal dominant mode of inheritance. Germline mutations of HMBS gene causes AIP. Mutation of HMBS gene results into the partial deficiency of the heme biosynthetic enzyme hydroxymethylbilane synthase. AIP is clinically manifested with abdominal pain, vomiting, and neurological complaints. Additionally, an extreme phenotypic heterogeneity has been reported in AIP patients with mutations in HMBS gene. Here, we investigated a Chinese patient with AIP. The proband is a 28-year-old Chinese male manifested with severe stomach ache, constipation, nausea and depression. Proband’s father and mother is normal. Proband’s blood sample was collected and genomic DNA was extracted. Whole exome sequencing and Sanger sequencing identified a heterozygous novel single nucleotide deletion (c.809delC in exon 12 of HMBS gene in the proband. This mutation leads to frameshift followed by formation of a truncated (p.Ala270Valfs∗2 HMBS protein with 272 amino acids comparing with the wild type HMBS protein of 361 amino acids. This mutation has not been found in proband’s unaffected parents as well as in 100 healthy normal control. According to the variant interpretation guidelines of American College of Medical Genetics and Genomics (ACMG, this variant is classified as “likely pathogenic” variant. Our findings expand the mutational spectra of HMBS gene related AIP which are significant for screening and genetic diagnosis for AIP.

A Rare Comorbidity: Dermatitis Herpetiformis and Sarcoidosis - A Case Report

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Ivanov Pavlov Stoyan

2016-09-01

Full Text Available Sarcoidosis is an enigmatic, multisystem granulomatous disease of unknown etiology and wide range of clinical presentations. Case report: A 54-year-old female presented with facial rash: polymorphic, round, infiltrated erythematous plaques, 1 - 3 cm in size, disseminated on several areas of the face. The medical history was consistent with dermatitis herpetiformis and persistent intrahepatic cholestasis. The laboratory test results suggested celiac disease (strong positivity of IgA anti-tissue transglutaminase antibodies but upper endoscopy was not performed to confirm it. The skin biopsy revealed noncaseating epithelioid-cell granulomas, and negative direct immunofluorescence showed IgA deposits in the dermis. Sarcoidosis with cutaneous and hepatic involvement was established based on compatible clinical findings and supportive histology. The period between manifestations of Duhring disease and skin manifestations of sarcoidosis was 20 years. Conclusion: Our clinical case supports the hypothesis for common immune pathogenic factors in gluten-sensitive diseases and sarcoidosis. The simultaneous occurrence of celiac disease and sarcoidosis is rare, but should not be under recognized.

The Amyand's Hernia: A Rare Clinical Entity Diagnosed by Computed Tomography.

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Keskin, Suat; Simşek, Cihan; Keskin, Zeynep

2013-01-01

Amyand's hernia, named for the first person to describe an inguinal hernia containing the vermiform appendix, is an uncommon variant of an inguinal hernia. Amyand's hernia is an extremely rare condition and is often misdiagnosed. Traditionally, these hernias have been diagnosed at surgery but are increasingly diagnosed by abdominal computed tomography (CT) scans. CT of the abdomen may help in guiding the diagnosis.