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Sample records for extremely rare manifestation

  1. Hashimoto's Encephalitis: Rare Manifestation of Hypothyroidism.

    Science.gov (United States)

    Gutch, Manish; Bhattacharjee, Annesh; Kumar, Sukriti; Pushkar, Durgesh

    2017-01-01

    Hashimoto's encephalitis is a rare, heterogeneous and completely treatable form of neuroendocrine disorder manifesting with seizures, stroke-like episodes, encephalopathy, dementia and variable neuropsychiatric manifestations. It is generally associated with a background of Hashimoto's Thyroiditis, and the patient has high titers of antithyroid antibodies, especially antithyroid peroxidase antibodies. This entity responds dramatically to corticosteroids, hence should be always considered and excluded while treating a patient with encephalopathy in the background of a thyroid disease.

  2. Proteus Syndrome with Neurological Manifestations: A Rare Presentation

    Science.gov (United States)

    Sachdeva, Pallavi; Minocha, Priyanka; Jain, Rohit; Sitaraman, Sadasivan; Goyal, Manisha

    2017-01-01

    Proteus syndrome (PS) is an extremely rare and complex disorder. Approximately 200 cases have been reported, and it seems to affect people of all ethnic and racial groups. PS is characterized by segmental overgrowth of multiple tissues and organs including vascular malformations, lipomatous overgrowth, hyperpigmentation, and various types of nevi. We hereby present a 7-year-old boy who presented with seizures and overgrowth of one-half of the body. Although classical physical features have been described, epilepsy and other neurological manifestations are rarely reported features of PS. Early detection of association of epilepsy and hemimegalencephaly with PS can prevent/minimize the neurological complications, disability, morbidity, and mortality. PMID:28553400

  3. Norwegian scabies - rare case of atypical manifestation*

    Science.gov (United States)

    Ebrahim, Karina Corrêa; Alves, Júlia Barazetti; Tomé, Lísias de Araújo; de Moraes, Carlos Floriano; Gaspar, Arianne Ditzel; Franck, Karin Fernanda; Hussein, Mohamad Ali; da Cruz, Lucas Raiser; Ebrahim, Leonardo Duque; Sidney, Luis Felipe de Oliveira

    2016-01-01

    Human scabies affects all social classes and different races around the world. It is highly contagious, but the exact figures on its prevalence are unknown. A 19-year-old male patient was admitted to the emergency room reporting fever (38°C) and multiple lesions throughout the body, except face, soles, and palms. Lesions were non-pruritic, which hampered the initial diagnostic suspicion. Skin biopsy was performed, and the final diagnosis was crusted scabies (Norwegian). It was concluded that human scabies is a significant epidemic disease, due to its different clinical manifestations, and because it is extremely contagious. PMID:28099611

  4. 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.

  5. Rare Endoscopic Manifestation of Pancreatic Adenocarcinoma

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    Haritha Chelimilla

    2012-07-01

    Full Text Available Gastric ulcer secondary to direct invasion from pancreatic adenocarcinoma is rare. Metastases to the stomach have been commonly reported with melanoma and with primary tumors of the breast, lung, ovary, liver, colon and testis. We report a patient who presented with epigastric pain and in whom subsequently upper endoscopy showed a malignant gastric ulcer secondary to direct invasion from pancreatic adenocarcinoma of the body. An 81-year-old female presented to our hospital with epigastric pain and subsequently underwent endoscopy with endoscopic ultrasound for evaluation of a pancreatic body mass. She had a large gastric ulcer in the fundus which was in direct continuity with the pancreatic mass. Pathology from biopsy of the ulcer revealed invasive well-to-moderately-differentiated adenocarcinoma, and immunohistochemical stains were strongly positive for CA19-9, CK7, CK19 and carcinoembryonic antigen. These findings were consistent with a histopathological diagnosis of metastatic carcinoma of the pancreas. Patients with gastrointestinal metastases usually have advanced malignancy with poor prognosis. Endoscopic evaluation with adequate biopsies should be performed for symptomatic patients.

  6. Prosopagnosia: A rare presenting manifestation of frontotemporal lobar degeneration

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    George Arun

    2009-01-01

    Full Text Available Frontotemporal dementia is an important neurodegenerative disorder accounting for a significant proportion of dementia cases with onset before 60 years of age. Apart from the well recognized behavioral changes the disease has many other distinctive features like predominant language involvement alone or associated features of motor neuron disease or parkinsonism etc. which at times may be the presenting manifestation itself. In the following article we describe a rare presenting manifestation; prosopagnosia, in the setting of frontotemporal degeneration

  7. Epilepsy as a Rare Neurologic Manifestation of Oculodentodigitalis Dysplasia

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    Mohammad BARZEGAR

    2012-09-01

    Full Text Available How to Cite this Article: Barzegar M, Sayadnasiri M, Tabrizi A. Epilepsy as a Rare Neurologic Manifestation of Oculodentodigitalis Dysplasia. Iran J Child Neurol 2012; 6(3: 39-43.Oculodentodigitalis dysplasia (ODDD is an extremely rare inherited disorderinvolving the development of the face, eyes, teeth and limbs. In addition,some patients develop neurological problems mostly a spastic paraparesisassociated with white matter abnormalities on magnetic resonance imaging.This report describes a patient with epilepsy, a rare neurologic manifestationof this syndrome.ReferencesJudisch GF, Martin-Casals A, Hanson JW, Olin WH.Oculodentodigital dysplasia. Four new reports and aliterature review. Arch Ophthalmol 1979 May;97(5:878-84.Paznekas WA, Boyadjiev SA, Shapiro RE, DanielsO, Wollnik B, Keegan CE, et al. Connexin 43(GJA1 mutations cause the pleiotropic phenotype of oculodentodigital dysplasia. Am J Hum Genet 2003 Feb;72(2:408-18.Parashari UC, Khanduri S, Bhadury S, Qayyum FA.Radiographic diagnosis of a rare case of oculodentodigital dysplasia. SA J Radiology 2011:134-6.van Es RJ, Wittebol-Post D, Beemer FA. Oculodentodigital dysplasia with mandibular retrognathism and absenceof syndactyly:a case report with a novel mutation in the connexin 43 gene. Int J Oral Maxillofac Surg 2007 Sep;36(9:858-60.Aminabadi NA, Ganji AT, Vafaei A, Pourkazemi M,Oskouei SG. Oculodentodigital dysplasia: disease spectrum in an eight-year-old boy, his parents and asibling. J Clin Pediatr Dent 2009 Summer;33(4:337-41.Loddenkemper T, Grote K, Evers S, Oelerich M, StogbauerF. Neurological manifestations of the oculodentodigital dysplasia syndrome. J Neurol 2002 May;249(5:584-95.Opjordsmoen S, Nyberg-Hansen R. Hereditary spasticparaplegia with neurogenic bladder disturbances and syndactylia. Acta Neurol Scand 1980 Jan;61(1:35-41.Farmer TW, Wingfield MS, Lynch SA, Vogel FS, HuletteC, Katchinoff B, et al. Ataxia, chorea, seizures, and dementia. Pathologic features of a newly

  8. Horseshoe Appendix: An Extremely Rare Appendiceal Anomaly.

    Science.gov (United States)

    Singh, Ch Gyan; Nyuwi, Kuotho T; Rangaswamy, Raju; Ezung, Yibenthung S; Singh, H Manihar

    2016-03-01

    Appendiceal anomalies are extremely rare malformations that are usually found incidentally. Agenesis and duplication of the appendix has been well documented however, the cases of horseshoe appendix reported is very limited, only four cases reported so far. Here, we report a four and half-year-old who underwent interval appendectomy. Intraoperatively both the ends of the appendix were found to be communicating with the cecum with two separate base or stump located at a sagital disposal- the so called "horseshoe appendix".

  9. Self-Organization in the Manifestations of Youth Extremism

    Science.gov (United States)

    Zubok, Iu. A.; Chuprov, V. I.

    2011-01-01

    The analysis of the nature of youth extremism has shown that there is a connection between the extremist tendency ["ekstremal'nost'"] that is an essential property of young people, on the one hand, and extremist manifestations that come about in that community under certain conditions. These conditions include external ones (the…

  10. Pulmonary necrobiotic nodules: a rare extraintestinal manifestation of Crohn's disease

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    G. Warwick

    2009-03-01

    Full Text Available The present article reports the case of a 22-yr-old female with new onset Crohn's colitis, anterior uveitis and multiple pulmonary nodules which, on histological examination, were necrobiotic nodules. This is a rare but recognised pulmonary extraintestinal manifestation of Crohn's disease and only the fourth reported case. The present case report is followed by a brief review of the relevant literature.

  11. Dengue encephalitis-A rare manifestation of dengue fever

    OpenAIRE

    Madi, Deepak; Achappa, Basavaprabhu; Ramapuram, John T; Chowta, Nityananda; Laxman, Mridula; Mahalingam, Soundarya

    2014-01-01

    The clinical spectrum of dengue fever ranges from asymptomatic infection to dengue shock syndrome. Dengue is classically considered a non-neurotropic virus. Neurological complications are not commonly seen in dengue. The neurological manifestations seen in dengue are encephalitis, meningitis, encephalopathy, stroke and Guillain-Barré syndrome. Dengue encephalitis is a rare disease. We report an interesting case of dengue encephalitis from Southern India. A 49-year-old gentleman presented with...

  12. Hyperkalemia Induced Brugada Phenocopy: A Rare ECG Manifestation

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    Muhammad Ameen

    2017-01-01

    Full Text Available Brugada syndrome (BrS is an inherited disorder of cardiac ion channels characterized by peculiar ECG findings predisposing individuals to ventricular arrhythmias, syncope, and sudden cardiac death (SCD. Various electrolyte disturbances and ion channels blocking drugs could also provoke BrS ECG findings without genetic BrS. Clinical differentiation and recognition are essential for guiding the legitimate action. Hyperkalemia is well known to cause a wide variety of ECG manifestations. Severe hyperkalemia can even cause life threatening ventricular arrhythmias and cardiac conduction abnormalities. Most common ECG findings include peaked tall T waves with short PR interval and wide QRS complex. Since it is very commonly encountered disorder, physicians need to be aware of even its rare ECG manifestations, which include ST segment elevation and Brugada pattern ECG (BrP. We are adding a case to the limited literature about hyperkalemia induced reversible Brugada pattern ECG changes.

  13. Hemorrhagic bullous dermatosis: a rare heparin-induced cutaneous manifestation.

    Science.gov (United States)

    Govind, Bhuvanesh; Gnass, Esteban; Merli, Geno; Eraso, Luis

    2016-01-01

    Heparin is one of the most widely prescribed medications. Cutaneous reactions distant to the injection site are rare and under-reported in the literature. We present an elderly man with history of CNS lymphoma who underwent treatment of a deep venous thrombosis with enoxaparin and subsequently developed well demarcated bullous lesions within days of heparin initiation. The exact pathophysiology is not well understood. Hemorrhagic bullous dermatosis is a rare cutaneous reaction that is temporally associated with the initiation of heparin products. The handful of cases thus far suggest that regression of these seemingly benign lesions may or may not be associated with dose reduction or discontinuation of heparin products and typically occur within a few weeks. Elderly age appears to be one potential risk factor for development of these rare asymptomatic lesions. Malignancy may have some contributing factor and differentiation between this rare cutaneous manifestation from heparin products and other dermatological findings in patients with malignancy is key. Because of the asymptomatic and self-limiting nature of hemorrhagic bullous dermatoses in the setting of heparin product use, we presume that the reported incidence does not reflect true clinical practice.

  14. A Rare Manifestation of Uveitis-glaucoma-hyphema Syndrome

    Science.gov (United States)

    Leal, Inês; Faria, Mun Yueh; Pinto, Luís Abegão

    2016-01-01

    ABSTRACT Aims: To report a case of a patient who developed uveitis-glaucoma-hyphema (UGH) syndrome after an uneventful cataract surgery and to discuss risk factors, diagnostic challenges, management options, and clinical implications. Background: Uveitis-glaucoma-hyphema syndrome is a rare but potentially serious cataract surgery complication. Clinical manifestations include increased intraocular pressure (IOP), anterior chamber inflammation, and recurrent hyphema or microhyphema. Uveitis-glaucoma-hyphema Plus syndrome also includes accompanying vitreous hemorrhage. Although classically associated with rigid anterior chamber intraocular lenses (lOLs), cases of malpositioning and subluxated posterior chamber lOLs have also been described as possible triggers. Case description: We report a case of a 70-year-old Caucasian man who developed UGH Plus syndrome after an uneventful cataract surgery with an lOL implanted in the capsular bag. During postoperative follow-up, persistent intraocular inflammation, increased IOP, hyphema, and vitreous hemorrhage were consistent with this diagnosis. Slit-lamp examination demonstrated progressive localized iris atrophy, compatible with chafing of the posterior iris by the IOL haptic as the trigger for UGH syndrome. A pars plana vitrectomy was performed and a retropupillary intraocular lens was implanted. No further complications occurred during follow-up. Conclusion and clinical significance: Given the increasing prevalence of single-piece lOLs implanted in the capsular bag, it is important to recognize UGH syndrome as a rare but potentially serious complication. How to cite this article: Sousa DC, Leal I, Faria MY, Pinto LA. A Rare Manifestation of Uveitis-glaucoma-hyphema Syndrome. J Curr Glaucoma Pract 2016;10(2):76-78. PMID:27536051

  15. A Rare Electrocardiographic Manifestation of A Rare form of Multiple Electrolyte Disturbances: Hyperparathyroid Crisis

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    Mitra Chitsazan

    2011-12-01

    Full Text Available The surface electrocardiogram (ECG has been used as a useful method for detection of metabolic disturbances for a long time. However, it may be difficult to distinguish the exact disturbance when more than one metabolic abnormality exists in a patient simultaneously. Although, "classic" ECG characterizations of common electrolyte disturbances are well described, multiple concurrent electrolyte disturbances may lead to ECG abnormalities that may not be easily detectable. This ECG concerns a 60-year-old male presented with general fatigue, weakness, epigastric pain, anorexia, nausea and extreme hypercalcemia (serum total and ionized calcium levels 20.5 mg/dL and 12.02 mg/dl, respectively, hypokalemia and hypomagnesemia associated with elevated parathyroid hormone (1160 pg/ml and normal serum vitamin D level (97 ng/ml . This rare manifestation of primary hyperparathyroidism has been named hyperparathyroid crisis in the literature. Hyperparathyroid crisis is an emergency form of multiple electrolyte abnormalities that manifest as a life-threatening hypercalcemia and simultaneous hypokalemia and hypomagnesemia; these two later are believed to be caused by diuretic effect of calcium on the renal tubules. The unique pattern of ECG in our patient first was misdiagnosed as prominent T waves with prolongation of the QT corrected (QTc interval, which has been reported several times in patients with hyperparathyroidism crisis, compatible with our patient. But more investigation revealed that, the QTc interval not only is not prolonged, it is shortened as it is expected from the effect of hypercalcemia on electrocardiogram. The exact pattern of the patient`s ECG (figure 1 can be interpreted as it follows: (1 Flattening of the T wave, (2 a prominent U wave, (3 prolongation of the descending limb of the T wave such that it overlapped with the next U wave (4 virtual absence of ST segment and (5 shortening of the QT corrected interval. In conclusion, it should

  16. 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.

  17. Dengue encephalitis-A rare manifestation of dengue fever

    Institute of Scientific and Technical Information of China (English)

    Deepak Madi; Basavaprabhu Achappa; John T Ramapuram; Nityananda Chowta; Mridula Laxman; Soundarya Mahalingam

    2014-01-01

    The clinical spectrum of dengue fever ranges from asymptomatic infection to dengue shock syndrome. Dengue is classically considered a non-neurotropic virus. Neurological complications are not commonly seen in dengue. The neurological manifestations seen in dengue are encephalitis, meningitis, encephalopathy, stroke and Guillain-Barré syndrome. Dengue encephalitis is a rare disease. We report an interesting case of dengue encephalitis from Southern India. A 49-year-old gentleman presented with fever, altered sensorium and seizures. Dengue NS-1 antigen test was reactive. Dengue IgM was also positive. CSF PCR was negative for herpes simplex 1 & 2. Dengue encephalitis should be considered in the differential diagnosis of fever with altered sensorium, especially in countries like India where dengue is rampant.

  18. Dengue encephalitis–A rare manifestation of dengue fever

    Directory of Open Access Journals (Sweden)

    Deepak Madi

    2014-05-01

    Full Text Available The clinical spectrum of dengue fever ranges from asymptomatic infection to dengue shock syndrome. Dengue is classically considered a non-neurotropic virus. Neurological complications are not commonly seen in dengue. The neurological manifestations seen in dengue are encephalitis, meningitis, encephalopathy, stroke and Guillain-Barré syndrome. Dengue encephalitis is a rare disease. We report an interesting case of dengue encephalitis from Southern India. A 49-year-old gentleman presented with fever, altered sensorium and seizures. Dengue NS-1 antigen test was reactive. Dengue IgM was also positive. CSF PCR was negative for herpes simplex 1 & 2. Dengue encephalitis should be considered in the differential diagnosis of fever with altered sensorium, especially in countries like India where dengue is rampant.

  19. An extremely rare case: osteosclerotic metaphyseal dysplasia.

    Science.gov (United States)

    Kasapkara, C S; Küçükçongar, A; Boyunağa, O; Bedir, T; Oncü, F; Hasanoğlu, A; Tümer, L

    2013-01-01

    OMD (osteosclerotic metaphyseal dysplasia) is a very rare sclerosing bone disorder, first described by G. Nishimura in two Japanese siblings in 1993 (6). We report the case of a 12-month-old male with hypotonia, developmental delay and sclerosis of the metaphyses and epiphyses of specific bones. This 36-week gestation boy was born to a 26 year old gravida 5 para 1 Turkish mother and a 27 year old nonconsanguineous father. Radiographic findings obtained during the hospital stay included bilateral symmetrical osteosclerosis of the metaphyseal portions of the long bones in the upper and lower extremities with osteopenic shafts. Narrow bands of metaphyseal osteosclerosis were detected in the short tubular bones of the hands and feet. Growing parts of bilateral scapula, iliac, pubic and ischial bones show sclerotic bands. In addition superior and inferior plates of vertebras, transverse processes of sacral vertebras, all visible epiphyses, carpal and tarsal bones also show sclerotic changes. The scalp was unaffected. Based on the clinical, radiographic, and laboratory findings, a diagnosis of OMD was made. We do not know any of the osteosclerotic bone disorder with changes including hypotonia, mental and motor developmental delay and metaphyseal sclerosis of the bones with a unique distribution except OMD. The syndrome is characterized by developmental delay of a progressive nature, hypotonia, elevated alkaline phosphatase, and late-onset spastic paraplegia 18 years ago. Our patient is the 4th case of OMD described in the literature share some clinical and radiological similarities with other three reported cases of osteosclerotic metaphyseal dysplasias.

  20. Generalized subcutaneous edema as a rare manifestation of dermatomyositis: clinical lesson from a rare feature.

    LENUS (Irish Health Repository)

    Haroon, Muhammad

    2011-04-01

    Generalized subcutaneous edema is a very rare manifestation of inflammatory myopathies. A 61-year-old woman presented with classic signs and symptoms of dermatomyositis. She was also noted to have generalized edema that was so florid that an alternative diagnosis was considered. Her disease was resistant to corticosteroids, azathioprine, and mycophenolate mofetil. Intravenous administration of immunoglobulins was started because of marked worsening of her disease-muscle weakness, generalized anasarca, and involvement of her bulbar muscles. This led to dramatic resolution of her subcutaneous edema and significant improvement of her skin and muscle disease. As the initial screen for malignancy was negative, a positron emission tomography-computed tomography scan was requested, which interestingly showed a metabolically active cervical tumor. Anasarca is an unusual manifestation of dermatomyositis. In treatment-refractory cases, it seems reasonable to consider positron emission tomography scan in excluding underlying malignant disease.

  1. Mast cell leukemia: an extremely rare disease.

    Science.gov (United States)

    Lu, Dai-Yin; Gau, Jyh-Pyng; Hong, Ying-Chung; Liu, Chun-Yu; Yu, Yuan-Bin; Hsiao, Liang-Tsai; Liu, Jin-Hwang; Chen, Po-Min; Chiou, Tzeon-Jye; Tzeng, Cheng-Hwai

    2014-08-01

    Systemic mastocytosis is characterized by pathologic proliferation and accumulation of mast cells in at least one extracutaneous organ such as liver, spleen, bone marrow, or lymph nodes. The clinical features are highly variable depending on impairment of the involved organ systems. It often raises diagnostic challenges. Here we report a case of a 78-year-old patient with mast cell leukemia. The literature is reviewed regarding the diagnosis and updated management of this rare disease.

  2. A Rare Presentation of Hepatitis A Infection with Extrahepatic Manifestations

    OpenAIRE

    Geetika Bhatt; Sandhu, Varrinder S.; Mitchell, Charlene K

    2014-01-01

    Hepatitis A has a variety of associated extrahepatic manifestations that clinicians should be aware of for early diagnosis and treatment. We report a unique case of hepatitis A presenting with multiple extrahepatic manifestations not previously described in a single patient. A 34-year-old male presented with sudden onset of left sided facial pain, swelling, and skin rash, with diffuse body pains and muscle weakness, and was found to be positive for hepatitis A immunoglobulin M (IgM). He was i...

  3. 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.

  4. A rare case of extra nodal Rosai-Dorfman disease with isolated multifocal osseous manifestation

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    Maharshi H Patel

    2015-01-01

    Full Text Available Sinus histiocytosis with massive lymphadenopathy (SHML or Rosai-Dorfman disease is a non-neoplastic condition which typically presents as massive, bilateral cervical lymphadenopathy and can involve multiple extranodal organ systems such as skin, eyes, and upper respiratory tract in about 28% cases. Bone lesions in association with nodal disease are seen in less than 10% cases. Isolated bone involvement as the only manifestation of SHML is extremely rare, with less than 50 cases reported in the literature. We report a very uncommon case of Rosai-Dorfman disease with isolated multifocal osseous involvement as the only presenting feature, involving about 10 different sites with no lymphadenopathy or other organ system involvement.

  5. CASE REPORT Calcinosis cutis universalis – a rare manifestation of ...

    African Journals Online (AJOL)

    scleroderma), but is rarely reported in systemic lupus erythematosus. (SLE ). ... improvement with therapy and she continued to cough and lose weight. Her current complaints ... The rest of the physical examination was within normal limits.

  6. A rare presentation of hepatitis a infection with extrahepatic manifestations.

    Science.gov (United States)

    Bhatt, Geetika; Sandhu, Varrinder S; Mitchell, Charlene K

    2014-01-01

    Hepatitis A has a variety of associated extrahepatic manifestations that clinicians should be aware of for early diagnosis and treatment. We report a unique case of hepatitis A presenting with multiple extrahepatic manifestations not previously described in a single patient. A 34-year-old male presented with sudden onset of left sided facial pain, swelling, and skin rash, with diffuse body pains and muscle weakness, and was found to be positive for hepatitis A immunoglobulin M (IgM). He was initially started on antibiotics for concerns of bacterial parotitis but did not show any improvement. A punch biopsy of his mandibular rash and swelling was done which showed lymphohistiocytic infiltration with a few eosinophils. A trial of prednisone resulted in improvement of his symptoms. Clinicians should be aware to look for hepatitis A infection in a patient with atypical clinical picture causing a widespread systemic inflammatory response. Treatment with prednisone may result in resolution.

  7. A Rare Presentation of Hepatitis A Infection with Extrahepatic Manifestations

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    Geetika Bhatt

    2014-01-01

    Full Text Available Hepatitis A has a variety of associated extrahepatic manifestations that clinicians should be aware of for early diagnosis and treatment. We report a unique case of hepatitis A presenting with multiple extrahepatic manifestations not previously described in a single patient. A 34-year-old male presented with sudden onset of left sided facial pain, swelling, and skin rash, with diffuse body pains and muscle weakness, and was found to be positive for hepatitis A immunoglobulin M (IgM. He was initially started on antibiotics for concerns of bacterial parotitis but did not show any improvement. A punch biopsy of his mandibular rash and swelling was done which showed lymphohistiocytic infiltration with a few eosinophils. A trial of prednisone resulted in improvement of his symptoms. Clinicians should be aware to look for hepatitis A infection in a patient with atypical clinical picture causing a widespread systemic inflammatory response. Treatment with prednisone may result in resolution.

  8. 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.

  9. Achilles tendinitis as a rare extraintestinal manifestation of ulcerative colitis.

    Science.gov (United States)

    Zenda, Takahiro; Araki, Ichiro; Nakamiya, Otoyuki; Tokuumi, Yuji; Shimada, Yuka; Komai, Keigo; Taniuchi, Yukie

    2016-06-01

    Patients with inflammatory bowel disease often have extraintestinal manifestations (EIMs) involving almost all organ systems, but little has been reported on Achilles tendinitis. Herein, we present a unique case of Achilles tendinitis, which manifested shortly after initiation of mesalazine therapy for ulcerative colitis. A 26-year-old Japanese woman with bloody diarrhea and abdominal cramps lasting for 7 days was referred to our hospital. The Lichtiger clinical activity index (CAI) score was 9 at the first visit. Based on the clinical symptoms and examination results, she was diagnosed with ulcerative pancolitis in the active phase, and treatment with mesalazine (2.4 g/day) and probiotics was initiated. Her symptoms resolved within 7 days of treatment (CAI 3). However, she then developed bilateral Achilles tendinitis without any apparent cause. The Achilles tendinitis subsided with conservative management within 2 weeks, despite continuation of mesalazine therapy. This case instructively suggests that Achilles tendinitis should be noted as an EIM of ulcerative colitis.

  10. Laws of small numbers extremes and rare events

    CERN Document Server

    Falk, Michael; Hüsler, Jürg

    2004-01-01

    Since the publication of the first edition of this seminar book in 1994, the theory and applications of extremes and rare events have enjoyed an enormous and still increasing interest. The intention of the book is to give a mathematically oriented development of the theory of rare events underlying various applications. This characteristic of the book was strengthened in the second edition by incorporating various new results on about 130 additional pages. Part II, which has been added in the second edition, discusses recent developments in multivariate extreme value theory. Particularly notable is a new spectral decomposition of multivariate distributions in univariate ones which makes multivariate questions more accessible in theory and practice. One of the most innovative and fruitful topics during the last decades was the introduction of generalized Pareto distributions in the univariate extreme value theory. Such a statistical modelling of extremes is now systematically developed in the multivariate fram...

  11. The phenotypic manifestations of rare CNVs in schizophrenia.

    Science.gov (United States)

    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.

  12. Dysplasia epiphysealis hemimelica (Trevor's disease: a rare case report with oral manifestations

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    Asha ML

    2015-04-01

    Full Text Available Dysplasia epiphysealis hemimelica, also known as Trevor's disease, is an extremely rare skeletal developmental disorder of unknown etiology, characterized by an osteocartilaginous outgrowth of one or more epiphyses or of a tarsal bone during childhood. It is a rare skeletal hemimelica disorder characterized by asymmetric growth of cartilage in one or more epiphyses. Due to the unusual presentation and variability of the picture, there is no standardized treatment and outcome is very different. Also such an unusual, unique case with craniofacial manifestations has not been reported in the literature. We report a case of a 14-year-old male, who complained of irregularly placed teeth in upper and lower front teeth region. On general physical examination we noticed some skeletal abnormalities with the patient and hence we subjected him to radiographic investigations. The images were consistent with epiphyseal dysplasia hemimelica. The prognosis of DEH is variable and depends basically on its location and size. Carriers of this unusual dysplasia should be periodically monitored for the risk of recurrence. [Int J Res Med Sci 2015; 3(4.000: 1018-1024

  13. Eosinophilic cholecystitis as a rare manifestation of visceral larva migrans

    Institute of Scientific and Technical Information of China (English)

    2007-01-01

    Eosinophilic cholecystitis is an infrequent form of cholecystitis. The etiology of eosinophilic cholecystitis is still obscure, and it is sometimes accompanied with several complications, but a simultaneous onset with pericarditis is very rare. We would like to make an alternative interpretation of our recent report "Kaji K, Yoshiji H, Yoshikawa M, Yamazaki M, Ikenaka Y,Noguchi R, Sawai M, Ishikawa M, Mashitani T, Kitade M, Kawaratani H, Uemura M, Yamao J, Fujimoto M,Mitoro A,Toyohara M, Yoshida M, Fukui H. Eosinophilic cholecystitis along with pericarditis caused by Ascaris lumbricoides: A case report.World J Gastroenterol 2007;13: 3760-3762."

  14. Pancreatic Panniculitis: A rare manifestation of Acute Pancreatitis

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    Ronak Patel

    2015-05-01

    Full Text Available Context Pancreatic panniculitis is a very rare complication associated with pancreatic disease and perhaps even a presage to pancreatic pathology. Case report We present a case of pancreatic panniculitis in a 61 year old patient who was treated for sudden onset of abdominal pain associated with nausea and vomiting secondary to acute pancreatitis of unknown etiology. He subsequently developed skin lesions consistent with pancreatic panniculitis which gradually improved after resolution of his acute condition and treatment with topical steroid cream. Conclusion We discuss and review the literature along with highlighting for the readers the important clinical and histopathologic features of acute pancreatitis associated pancreatic panniculitis.

  15. Scalp fibroma: a rare cutaneous manifestation of tuberous sclerosis.

    Science.gov (United States)

    Sharma, Bhawna; Prakash, Swayam; Sannegowda, Raghavendra Bakki; Panagariya, Ashok

    2014-04-19

    We report a case of a 23-year-old woman with a history of generalised tonic-clonic seizures, reddish brown maculopapular swelling over the face and an enlarging swelling over the scalp. Physical examinations revealed angiofibroma of the face and other typical cutaneous lesions of tuberous sclerosis, for example, shagreen patch and periungual fibroma. Scalp swelling was labelled as fibroma by dermatologists, which was further supported by the histopathological findings. Fibroma of the face is one of the commonest lesions, however, fibroma of the scalp is a rarely described entity.

  16. Left bundle branch block: a rare ECG manifestation of hyperkalemia

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    Venkata Madhav M

    2015-04-01

    Full Text Available A 20-year-old female patient with chronic kidney disease was brought to our emergency medical department with symptoms of pain in chest and abdomen, vomitings. Laboratory testing revealed serum potassium 7.7 mEq/L, serum creatinine 9.1 mg/dL. Electrocardiogram (ECG showed left bundle branch block (LBBB pattern with left axis deviation, tall T waves and ST elevation. Among ECG alterations in hyperkalemia, LBBB is rare and is being reported in our case.

  17. Pediatric Priapism: A Rare First Manifestation of Leukemia

    Science.gov (United States)

    Hazra, Shankar Prasad; Gogoi, Debojit; Sharma, Pramod Kumar; Pal, Dilip Kumar; Chakraborty, Sudip C

    2013-01-01

    Priapism is a rare disease. It is an emergency condition with a poor prognosis, and the risk of impotence is 50% despite appropriate management. Though about 20% cases of all priapism are related to hematological disorders, the incidence of priapism in adult leukemic patients is only about 1-5 percent. The incidence in pediatric leukemia patient is even rarer. Here we present a case of priapism in a 14-year-old apparently healthy boy who found to have chronic myeloid leukemia on subsequent investigations. PMID:24381835

  18. Pediatric Priapism: A Rare First Manifestation of Leukemia

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    Shankar Prasad Hazra

    2013-09-01

    Full Text Available Priapism is a rare disease. It is an emergency condition with a poor prognosis, and the risk of impotence is 50% despite appropriate management. Though about 20% cases of all priapism are related to hematological disorders, the incidence of priapism in adult leukemic patients is only about 1-5 percent. The incidence in pediatric leukemia patient is even rarer. Here we present a case of priapism in a 14-year-old apparently healthy boy who found to have chronic myeloid leukemia on subsequent investigations.

  19. Pneumoscrotum: A rare manifestation of perforation associated with therapeutic colonoscopy

    Institute of Scientific and Technical Information of China (English)

    Kuang-I Fu; Takahiro Fujimori; Yasushi Sano; Shigeharu Kato; Takahiro Fujii; Masanori Sugito; Masato Ono; Norio Saito; Kiyotaka Kawashima; Shigeaki Yoshida

    2005-01-01

    Pneumoscrotum is uncommon and also rarely reported as a complication associated with colonic perforation. A case of colonic perforation in delayed fashion associated with EMR, revealed by pneumoscrotum, is reported and the associated literatures are reviewed. A 52-year-old male received piecemeal EMR for a laterally spreading tumor 35 mm in size in our hospital. He complained of enlargement of the scrotum and revisited our hospital the day after the procedure. A diagnosis of pneumoscrotum was made, and as most such cases have been reported to be associated with pneumoperitoneum, colonic perforation was suspected. Free air but no fluid collection was found by abdominal computed tomography, and delayed colonic perforation was diagnosed. However, as there were no clinical signs of peritoneal irritation,conservative treatment was administered and the patient recovered uneventfully. Pneumoscrotum could be a sign of colonic perforation after EMR, and treatment should be carefully chosen.

  20. 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.

  1. [Solitary fibrous tumor of the pelvis: a rare extrathoracic manifestation].

    Science.gov (United States)

    Gessmann, J; Seybold, D; Helwing, M; Muhr, G; Schildhauer, T A

    2009-07-01

    Solitary fibrous tumors (SFT) are rare spindle cell neoplasms. To date only very few cases of pelvic SFT have been reported in the literature. SFT are characterized by unique microscopic and immunohistochemical findings. Complete local resection is the treatment of choice. Recurrence and metastasis may be related to infrequent malignant histological features, but histology is not always a reliable predictor for prognosis. Therefore long-term follow-up is necessary.We report about a male patient with a malignant pelvic SFT. After complete resection the tumor recurred after a short period of 6 months posterior to the original location in the pelvis. The differential diagnoses and the therapy options are discussed with a review of the present literature.

  2. Linear IgA dermatosis adult variant with oral manifestation: A rare case report

    Directory of Open Access Journals (Sweden)

    T Isaac Joseph

    2015-01-01

    Full Text Available Linear immunoglobulin A (IgA dermatosis (LAD is a rare autoimmune disorder that presents as a vesiculo-bullous lesion with cutaneous manifestations, but rare oral mucosal involvement. Here we discuss a case of a vesiculobullous lesion with severe oral and ocular mucosal involvement mimicking pemphigoid with histopathological evidence of subepithelial blisters. Direct immunofluorescence (DIF confirmed the lesion as LAD of adult variant, although with atypical clinical features.

  3. Linear IgA dermatosis adult variant with oral manifestation: A rare case report.

    Science.gov (United States)

    Joseph, T Isaac; Sathyan, Pradeesh; Goma Kumar, K U

    2015-01-01

    Linear immunoglobulin A (IgA) dermatosis (LAD) is a rare autoimmune disorder that presents as a vesiculo-bullous lesion with cutaneous manifestations, but rare oral mucosal involvement. Here we discuss a case of a vesiculobullous lesion with severe oral and ocular mucosal involvement mimicking pemphigoid with histopathological evidence of subepithelial blisters. Direct immunofluorescence (DIF) confirmed the lesion as LAD of adult variant, although with atypical clinical features.

  4. Retroperitoneal paraganglioma presenting with pancytopenia: A rare case with rare manifestation

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    Mutlu Ünver

    2015-01-01

    Discussion: Complete surgical excision is the treatment of choice for extra-adrenal paragangliomas as well as for recurrent or metastatic neoplasms. Reactive thrombocytosis is a common cause of thrombocytosis. Splenectomy was found to be one of the main causes of extreme reactive thrombocytosis. Reactive thrombocytosis is a predictable finding after splenectomy and management of the thrombocytosis and prevention of complications should be initiated.

  5. Two cases of erythema induratum of Bazin – a rare cutaneous manifestation of tuberculosis

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    Sebastian von Huth

    2015-09-01

    Full Text Available Tuberculosis remains a global disease burden, counting more than 9 million new cases per year. Tuberculosis is caused by infection with Mycobacterium tuberculosis-complex. Though most commonly affecting the lungs, any organ can become a site of tuberculous infection. Cutaneous tuberculosis is rare, representing 1-2% of all cases of tuberculosis. There are numerous different cutaneous manifestations of tuberculosis. We describe two cases of erythema induratum of Bazin, a so-called tuberculid manifestation of cutaneous TB. Both cases are patients from endemic areas. In the cases presented, there were no signs of other organs affected, and cutaneous lesions disappeared during anti-tuberculous treatment.

  6. Primary hyperparathyroidism in a child: The musculoskeletal manifestations of a late presenting rare endocrinopathy

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    Tamer Ahmed EL-Sobky

    2016-12-01

    Full Text Available Primary hyperparathyroidism (PHPT is rare in children and adolescents, but has greater morbidity in this age group. Most of these patients show predominantly skeletal pathology and to a lesser extent renal involvement. Osteopenia, osteoporosis and subperiosteal resorption are frequently encountered radiographic skeletal signs. This study describes the orthopedic manifestations of PHPT in a child. PHPT in this child exhibited a late presentation with significant clinical morbidity and extensive radiographic manifestations. The characteristic radiographic pattern of PHPT in childhood is an important contributor to the diagnosis. The radioclinical and biochemical correlations augment diagnostic accuracy and delineate extent of skeletal pathology.

  7. Two cases of erythema induratum of Bazin - a rare cutaneous manifestation of tuberculosis

    DEFF Research Database (Denmark)

    von Huth, Sebastian; Øvrehus, Anne Lindebo; Lindahl, Kim Hein

    2015-01-01

    Tuberculosis remains a global disease burden, counting more than 9 million new cases per year. Tuberculosis is caused by infection with Mycobacterium tuberculosis-complex. Though most commonly affecting the lungs, any organ can become a site of tuberculous infection. Cutaneous tuberculosis is rare......, representing 1-2% of all cases of tuberculosis. There are numerous different cutaneous manifestations of tuberculosis. We describe two cases of erythema induratum of Bazin, a so-called tuberculid manifestation of cutaneous TB. Both cases are patients from endemic areas. In the cases presented, there were...... no signs of other organs affected, and cutaneous lesions disappeared during anti-tuberculous treatment....

  8. Exploring the causes of rare extreme precipitation events

    Science.gov (United States)

    Schroeer, Katharina; Kirchengast, Gottfried

    2015-04-01

    Whereas trends of precipitation changes in general are disparate, an increase of extreme intensities of short precipitation events (daily to sub-hourly scale) with increasing temperatures seems unambiguous (e.g. Trenberth et al., Clim. Res. 47, 123-138, 2011; Berg et al., Nat. Clim. Change 13, 181-185, 2013; Kendon et al., Nat. Clim. Change 4, 570-576, 2014). In probability density functions (PDFs) of observed precipitation intensities that are frequently used in science and practice, high magnitude ("extreme") low frequency ("rare") precipitation events naturally appear at the tails of PDFs. Due to the factual data scarcity, rare extreme events ("REEs") are difficult to come by with statistical analyses. Amongst studies of extreme precipitation, statistical work nevertheless makes a major contribution to the research field. Usually as a first step, a threshold is defined to classify extreme events out of a sample (statistical extreme events, "SEEs"), where methods are affected by the sample size. Such thresholds can be described user-defined or constructed. Subsequently, a PDF is sought, fit and applied (e.g. Yilmaz et al., Hydrol. Earth Syst. Sci. 18, 4065-4076, 2014;, Papalexiou et al., Hydrol. Earth Syst. Sci. 17, 851-862, 2013). While these studies respond to the needs of engeneering practice in e.g. infrastructure design, or trend analysis of precipitation in climate studies, they a) have to ignore REEs because of practical or statistical/data limitations (i.e. left out as "residual risk") and b) tell us little about the underlying processes of the climate and weather system causing REEs. We define REEs in contrast to SEEs as to be of such occurrence that they cannot be sufficiently described nor predicted by means of a regular or fat-tailed PDF. We introduce a working hypothesis assuming that REEs are conditioned and caused by a conjunction of specific circumstances on different scales. We differentiate spatio-temporal circumstances of large

  9. A Rare Manifestation of Crohn's Disease: Sinonasal Granulomatosis. Report of a Case and Review of Literature

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    Lilia Baili

    2014-10-01

    Full Text Available Crohn’s disease is a granulomatous inflammatory bowel disease. Its pathologic findings include non-contiguous chronic inflammation and non-caseating granulomas, sometimes with extra-intestinal localizations. Sinonasal manifestations of Crohn’s disease are quite rare and only a few cases have been reported up to date in the worldwide literature. They are characterized by chronic mucosal inflammation, obstruction, bleeding and occasionally septal perforation. We report a case of sinonasal granulomatosis revealing Crohn’s disease in a 22-year-old woman and go over the available literature on sinonasal involvement in Crohn’s disease.

  10. Langerhans cell histiocytosis with oral manifestations: a rare and unusual case report.

    Science.gov (United States)

    Yashoda-Devi, Bk; Rakesh, N; Agarwal, Manjushree

    2012-10-01

    Langerhans cell histiocytosis (LCH), is a rare, proliferative disorder in which the accumulation of pathologic Langerhans cells leads to local tissue infiltration and destruction. We present a case of a 32 years old, completely edentulous female patient who presented with erythema of hard palate, maxillary alveolar mucosa and mucosa over the distobuccal part of mandibular alveolar ridge with foci of ulcerations. Histopathologic features were suggestive of LCH which was confirmed by immunohistochemistry which was CD1a positive, confirmatory for LCH. Bone scan revealed multiple bone involvement. At this stage, disease had already progressed to multisystem involvement with endocrinal abnormalities (primary hypothyroidism and hyperprolactinemia), requiring aggressive treatment. Therefore, this case is a reminder of the possibility of occurrence of this rare disease in the oral cavity which might manifest itself in multiple presentations thus easily leading to the misdiagnosis and therefore, it could be easily overlooked by dentists. Key words:Langerhans cell histiocytosis, immunohistochemistry, bone scan.

  11. Acute bilateral useless hand syndrome: a rare presenting manifestation of vitamin B12 deficiency.

    Science.gov (United States)

    Biyani, Sumant; Jha, Sneh Kumar; Pandey, Suchit; Shukla, Rakesh

    2015-10-16

    We report a case of bilateral useless hand syndrome, a rare presenting manifestation of vitamin B12 deficiency. A 38-year-old man, a strict vegetarian and a teacher by occupation, presented with acute onset clumsiness of both hands while performing fine movements. Detailed history-taking, examination of the patient and relevant investigations (complete blood count, serum vitamin B12 and MRI of the cervical spinal cord) were carried out. Laboratory analysis was suggestive of vitamin B12 deficiency and MRI demonstrated a lesion involving the posterior columns of the cervical cord. The patient was diagnosed as a case of non-compressive cervical myelopathy predominantly involving the posterior column due to vitamin B12 deficiency. Acute bilateral useless hand syndrome can be a rare presenting feature of vitamin B12 deficiency.

  12. Horner syndrome as a manifestation of thyroid carcinoma: a rare association.

    Science.gov (United States)

    Pereira, Bernardo; Silva, Tiago; Luiz, Henrique; Manita, Isabel; Raimundo, Luísa; Portugal, Jorge

    2013-08-01

    An 82-year-old patient presented a progressively growing hard thyroid nodule, and left ptosis. Additionally, ophthalmologic evaluation revealed ipsilateral miosis, diagnostic findings of Horner syndrome. Computerized tomography revealed a 7.5-cm thyroid mass infiltrating the main neck vessels. Although clinical and imaging data were suggestive of poorly differentiated thyroid carcinoma, fine-needle aspiration led to the diagnosis of papillary carcinoma. Paliative care was proposed to the patient due to the advanced stage of the neoplasm and to significant comorbidities. Horner syndrome is an infrequent manifestation of thyroid disorders and benign etiologies are more often implied. Malignant thyroid neoplasms represent a rare cause of Horner syndrome. However, an appropriate and prompt diagnosis is paramount for timely treatment of rare thyroid malignancies.

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

    Energy Technology Data Exchange (ETDEWEB)

    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.

  14. Lower Extremity Arterial Occlusive Disease As a Rare Complication of Crohn's Disease

    Institute of Scientific and Technical Information of China (English)

    Wei-wei Wu; Xue-ying Jiang; Chang-wei Liu; Yong-jun Li; Rong Zeng

    2009-01-01

    Objective To investigate the dinical characteristics and treatment strategy of lower extremity arterial occlusive disease in patients with Crohn's disease(CD).Methods Clinical information of 9 cases suffering from lower extremity arterial occlusion and CD was investigated retrospectively.Results All the cases were less than 50 years old and the most were females(8/9).Arterial occlusions occurred in either active(5/9)or inactive(4/9)stage of CD.Besides the arteries of lower extremities,other arteries could also be involved such as aorta,iliac artery,renal artery or mesentery artery.Seven cases had atherosclerotic imaging findings(4 had aortic plaques and 6 had iliac artery stenoses).Embolectomy or thromboendarterectomy were mostly performed.Four(44.4% )cases had recurrent lower limb ischemia.Conclusions Arterial occlusive disease is a rare extraintestinal manifestation of CD.A thorough inspection of aorta is necessary.Embolectomy is mostly preferred.Anticoagulation treatment is highly recommended after the operation.

  15. Thymic Epidermoid Cyst: Clinical and Imaging Manifestations of This Rare Anterior Mediastinal Mass

    Directory of Open Access Journals (Sweden)

    Jawad M. Qureshi

    2016-01-01

    Full Text Available Thymic epidermoid cysts are an extremely rare entity. These arise from epidermal cells that migrate to the thymus. The radiologic diagnosis of this rare lesion is challenging. We describe a case of an otherwise healthy 35-year-old woman who presented with an acute onset of chest pain and shortness of breath. She was found to have an anterior mediastinal mass. The imaging findings were, however, not characteristic for any single diagnostic entity. Since the imaging was inconclusive, surgical resection was performed for definitive diagnosis. The mass was found to be a thymic epidermoid cyst. This case underlines the significance for radiologists to be aware that epidermoid cysts can occur in the thymus and should be considered in the differential diagnosis for a heterogeneous anterior mediastinal mass.

  16. Acute onset anarthria without hepatic manifestation: a rare presentation of Wilson disease.

    Science.gov (United States)

    Verma, Rajesh; Bhandari, Aveg; Tiwari, Navin; Chaudhari, Tejendra S

    2013-08-20

    Wilson disease (WD) is one of the few inherited but treatable disorder mainly affecting the liver and brain resulting in severe disability or death if left untreated. Hence, it is important to keep a high index of suspicion for diagnosing this clinical entity in appropriate clinical settings. The clinical presentation can be quite variable and they may present solely with neurological features sans hepatic symptoms. Such neurological manifestations usually follow subacute to chronic course. Acute onset anarthria as the heralding and predominant presenting feature has been rarely reported in the literature. We reported a case of a 12-year-old girl who presented with acute onset anarthria and dystonia of 1-month duration. On further evaluation, a diagnosis of WD was made. The patient showed partial improvement after she was started on copper chelating agents and anticholinergics.

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

    Energy Technology Data Exchange (ETDEWEB)

    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.

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

    Science.gov (United States)

    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.

  19. Rare Manifestation of a c.290 C>T, p.Gly97Glu VCP Mutation

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    Nivedita U. Jerath

    2015-01-01

    Full Text Available Introduction. The valosin-containing protein (VCP regulates several distinct cellular processes. Consistent with this, VCP mutations manifest variable clinical phenotypes among and within families and are a diagnostic challenge. Methods. A 60-year-old man who played ice hockey into his 50’s was evaluated by electrodiagnostics, muscle biopsy, and molecular genetics. Results. With long-standing pes cavus and toe walking, our patient developed progressive weakness, cramps, memory loss, and paresthesias at age 52. An axonal sensorimotor neuropathy was found upon repeated testing at age 58. Neuropathic histopathology was present in the quadriceps, and exome sequencing revealed the VCP mutation c.290 C>T, p.Gly97Glu. Conclusions. Our patient reflects the clinical heterogeneity of VCP mutations, as his neurological localization is a spectrum between a lower motor neuron disorder and a hereditary axonal peripheral neuropathy such as CMT2. Our case demonstrates a rare manifestation of the c.290 C>T, pGly97Glu VCP mutation.

  20. Xp21/A translocation: a rarely considered genetic cause for manifesting carriers of duchenne muscular dystrophy.

    Science.gov (United States)

    Trippe, Heike; Wieczorek, Stefan; Kötting, Judith; Kress, Wolfram; Schara, Ulrike

    2014-10-01

    Clinically manifesting carriers of Duchenne muscular dystrophy (DMD) are rare among the pediatric population. A standardized diagnostic procedure in supposed DMD carriers entails performing a Multiplex Ligation-dependent Probe Amplification analysis of the DMD gene first, then taking a muscle biopsy to confirm reduced dystrophin levels and/or finally a complete sequencing of the DMD gene. We describe a girl with high-elevated creatine kinase, myalgia, and cardiomyopathy. Muscle biopsy showed a dystrophic pattern and nearly absent expression of dystrophin. Diagnosis could not be confirmed by molecular genetic procedures. Because of a mild mental retardation, a chromosome analysis and molecular karyotyping were performed, revealing a balanced translocation t(X;4)(p21;q31).arr(1-22,X)x2 dn with breakpoint on the X-chromosome within an intron of the DMD gene. The inactivation of the nonderivative X-chromosome was found to be in a nonrandom pattern, resulting in a functionally balanced karyotype and thus leading to a manifesting DMD carrier in this case. Chromosome analysis should be recommended in cases of genetically unsolved DMD carriers as a part of the standard genetic procedures.

  1. Carcinosarcoma of the Pancreas: How a Common Blood Disorder Can Hide an Extremely Rare Tumour

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    Anastasios Katsourakis

    2015-05-01

    Full Text Available Context Sarcomas represent a relatively rare malignancy. Primary sarcomas of the pancreas represent an extremely rare pathology. Case report We report a case of primary pancreatic carcinoma that presented with anaemia. The patient underwent a Kausch-Whipple operation, and, 16 months after the operation, the patient is disease free. Conclusion This unique case describes an extremely rare gastrointestinal tumour that was found during the patient's anaemia assessment.

  2. Subscapular bursitis as a rare manifestation of dermatomyositis: a case report

    Science.gov (United States)

    Kim, Kyung Rok; Konig, Maximilian F.; Park, Jin Kyun

    2015-01-01

    Dermatomyositis (DM) is characterized by proximal muscle weakness and characteristic skin rash. Pain is a less common feature and usually indicates inflammation of extramuscular structures such as fascia. Here we report a rare case of subscapular bursitis in a 48-year-old woman with DM. She initially presented with severe, sharp, stabbing pain in her right shoulder that worsened with shoulder movement. Magnetic resonance imaging (MRI) revealed inflammation in the right subscapular bursae. A few months later, the patient developed periungual erythema, Gottron’s papules, and shawl sign with muscle pain in her thighs. DM was diagnosed based on the presence of interface dermatitis on skin biopsy and diffuse muscle inflammation on MRI. Bursitis and myalgia responded incompletely to nonsteroidal anti-inflammatory drugs but promptly to corticosteroids. Here we report a case of subscapular bursitis as a rare manifestation of DM. Pain in patients with DM may warrant physicians to evaluate for the presence of additional inflammatory processes in the perimuscular structures. PMID:27708933

  3. Craniodentofacial Manifestations in a Rare Syndrome: Orofaciodigital Type IV (Mohr-Majewski Syndrome

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    Meltem Ozdemir-Karatas

    2014-01-01

    Full Text Available Background. The orofaciodigital syndromes (OFDS are a heterogeneous group of syndromes that affect the face, oral cavity, and the digits. OFDS type IV (OMIM %258860 is rare and characterized by broad nasal root and tip, orbital hypertelorism or telecanthus, micrognathia, hypoplastic mandible, and low-set ears. Oral symptoms may include cleft lip, cleft or highly arched palate, bifid uvula, cleft or hypoplastic maxillary and mandibular alveolar ridge, oral frenula, lingual hamartoma, and absent or hypoplastic epiglottis. Dental anomalies are common and generally include disturbances in the number of teeth. Case Report. This report presents a six-year-old girl, referred with the chief complaint of missing teeth. She was diagnosed as having OFDS type IV based on clinical findings. Her parents reported three deceased children and two fetuses that had the same phenotype. She was the seventh child of consanguineous parents who were first cousins. Conclusion. This is a very rare syndrome. Many reported OFDS type IV cases have consanguineous parents, consistent with an autosomal recessive trait. Manifestation of cleft palate in the healthy sibling may be mild expression of the disorder or an unrelated isolated cleft.

  4. Lymphangioma of epidydimis: An extremely rare cause of scrotal swelling

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    K K Pai

    2006-01-01

    Full Text Available Lymphangioma of epidydimis is a very rare cause of scrotal swelling. We report a case of lymphangioma of epidydimis in a 24 year old male. This case is being presented in view of its rarity.

  5. Facial Paralysis and Hearing Loss: A Rare Manifestation of Prostate Cancer Metastases

    Science.gov (United States)

    Saqib, Amina; Mohammad, Farhan; Raza, Muhammad R; Nalluri, Nikhil; Forte, Frank

    2017-01-01

    Dural prostate metastases (DPM) are a rare manifestation of metastatic prostate cancer seen in approximately one to six percent of cases. Presenting symptoms may include signs of elevated intracranial pressure, headache, altered mental status, or cranial nerve palsies. Hearing loss, sensory changes, dysarthria, and dysphagia are rare symptoms in DPM that were present in our patient. We present a case of a 58-year-old male with a known diagnosis of adenocarcinoma of the prostate presenting with symptoms of acute exacerbation of chronic obstructive pulmonary disease (COPD), sub-acute right-sided hearing loss, and right-sided facial paralysis. Over the course of hospitalization, his neurological symptoms worsened and he developed dysarthria, dysphagia, facial numbness, and worsening back pain. He also appeared more withdrawn and lethargic. The symptoms prompted a neurological evaluation and a magnetic resonance imaging (MRI) revealed multiple areas of bone marrow signal abnormality compatible with osseous metastatic disease. There was extensive smooth dural thickening as well as focal nodular thickening, both consistent with dural metastases. The patient was treated with corticosteroids and external beam radiation therapy (EBRT) with improvement in his back pain and facial paralysis. He died two weeks after completing EBRT. Although rare, DPM should be suspected in males over 50 years of age presenting with neurological symptoms. An MRI with gadolinium is most helpful in delineating the presence and extent of dural and calvarial involvement. Corticosteroids and EBRT have been shown to improve neurological function in up to 67% of patients. However, median survival post-radiation remains approximately three months. PMID:28409073

  6. Neoplastic infiltration of the sphenoid wing: a rare manifestation of metastatic colorectal cancer.

    Science.gov (United States)

    Pinato, David James; Krell, Jonathan; Wasan, Harpreet; Sharma, Rohini

    2011-12-01

    Atypical patterns of metastatic spread from colorectal primary tumors are often misdiagnosed, with potential implications for the clinical outcome. Metastatic diffusion to the splanchnocranium is extremely rare in colorectal cancer. A histological proof of diagnosis is rarely obtained and therapeutic management is a challenge. We describe the case of a 46-year-old patient who presented with a radiologically proven sphenoid wing metastasis. The patient presented with left-sided exophthalmos while receiving systemic chemotherapy for relapsed high-risk colorectal cancer. A left sphenoid wing metastasis was proven by a head computed tomography scan. A metastatic spread to the sino-nasal tract is regarded as a poor prognosis determinant in colorectal cancer and presents a unique set of diagnostic and therapeutic challenges. The compression of noble structures such as the optic nerve holds serious implications in terms of quality of life but there is insufficient evidence clarifying whether radiotherapy or surgery represent the best option for these patients, leaving the therapeutic plan to be decided case by case.

  7. Meningeal carcinomatosis: an extremely rare involvement of urinary bladder carcinoma.

    Science.gov (United States)

    Uncu, Dogan; Arpaci, Fikret; Beyzadeoglu, Murat; Gunal, Armagan; Surenkok, Serdar; Ozturk, Mustafa; Ozet, Ahmet

    2010-01-01

    Meningeal carcinomatosis (MC) is a rare presentation of solid tumors, particularly breast cancer, lung cancer, and malignant melanoma. Recently, the incidence of MC has been reported to be increasing. It has a bad prognosis despite aggressive therapy. The usual clinical presentation is multifocal involvement of the neuraxis, with headache and radicular pain being the most common initial symptoms. The most frequent signs are motor deficits, altered mental status, and cranial nerve involvement. The treatment of MC remains controversial and no straightforward guidelines exist in the literature. MC from urinary bladder tumors is rare. In this case report, we present a 52-year-old male patient with meningeal metastasis from a primary urinary bladder carcinoma along with a review of the related literature. Free full text available at www.tumorionline.it

  8. Analogues of atmospheric circulation to probe extreme and rare events

    Science.gov (United States)

    Yiou, P.

    2015-12-01

    Analogues of atmospheric circulation have had many applications, from weather prediction to the downscaling of climate variables. The main assumptions behind this methodology are that climate variables (such as temperature or precipitation) are linked a large-scale atmospheric predictand, which is usually taken as sea-level pressure, and that such predictands recur through time. They offer a possibility to estimate probability distributions of a climate variable, conditional to patterns of atmospheric circulation. In addition, this methodology allows the quantification of unusual weather patterns that have been observed. I will represent a way to use analogues of circulation for the detection/attribution of extreme events of precipitation and temperature. This approach will be illustrated on test cases, including the warm European winter of 2006/2007, the extremes of precipitation over Southern UK and northwestern France in January 2014, and the European summer of 2015. I will show how this analysis provides a low-cost estimate of the fraction of attributable risk (FAR) for extreme events that verify the above mentioned hypotheses. Such an analysis can be performed in continuous time with reanalysis data and meteorological observations.

  9. Leiomyoma of the deferens: a curious and extremely rare disease.

    Science.gov (United States)

    De Rose, Aldo F; Mantica, Guglielmo; Piol, Nataniele; Toncini, Carlo; Spina, Bruno; Terrone, Carlo

    2017-08-01

    Leiomyomas are rare benign tumors that can occur in the male urinary tract. We present a unique case of leiomyoma of the vas deferens. We present the clinical case of a 69-year-old patient with a suspected bulk close to the right epididymis, which turned out to be a leiomyoma of the vas deferens. To our knowledge, it is the fourth case in literature. A proper identification and the knowledge of this pathology, even if it is a very unusual event, is necessary to avoid a surgical over treatment and preserve the testicle, by removing only the tumor.

  10. Gaussians Rarely Extremize Adjoint Fourier Restriction Inequalities For Paraboloids

    CERN Document Server

    Christ, Michael

    2010-01-01

    It was proved independently by Foschi and Hundertmark, Zharnitsky that Gaussians extremize the adjoint Fourier restriction inequality for L^2 functions on the paraboloid in the two lowest-dimesional cases. Here we prove that Gaussians are critical points for the L^p to L^q adjoint Fourier restriction inequalities if and only if p=2. Also, Gaussians are critial points for the L^2 to L^r_t L^q_x Strichartz inequalities for all admissible pairs (r,q) in (1,infinity)^2.

  11. Colopleural fistula caused by aspergillus: an extremely rare complication after lung resection—case report

    OpenAIRE

    Hayashi, Akio; Susaki, Yoshiyuki; Ose, Naoko; Takeuchi, Yukiyasu; Maeda, Hajime

    2016-01-01

    A colopleural fistula is a rare condition reported to be caused by Crohn’s disease, a malignant tumor of the gastrointestinal tract, and other clinical conditions. Some studies have noted that a sub-diaphragmatic abscess, usually organized following abdominal surgery, may play some role in the formation of this type of fistula. Therefore, a colopleural fistula is a complication very rarely encountered by thoracic surgeons after lung resection. We experienced an extremely rare case of colopleu...

  12. 梅毒少见的临床表现%Rare clinical manifestations of syphilis

    Institute of Scientific and Technical Information of China (English)

    蒲新露; 季必华

    2013-01-01

    Due to non-standardized administration of antibiotics,changes in homosexual behavior,human immunodeficiency virus co-infection,missed diagnosis of syphilis during pregnancy,and non-administration of benzathine benzylpenicillin for syphilis treatment in the first and last three months of pregnancy,many uncommon or rare manifestations haven been observed in syphilitic patients with the involvement of skin,mucous membrane,bone,joints,cardiovascular system,nervous system,alimentary system and respiratory system,which increases difficulties in the diagnosis and treatment of syphilis.This paper presents atypical syphilis cases reported at home and abroad in recent years,in hope to enhance clinicians' understanding of syphilis,so as to facilitate early diagnosis of syphilis and reduce systemic damages caused by syphilis.%由于抗生素的不规范使用,同性恋人群性行为的变化,合并HIV感染,孕期梅毒未发现及孕期前后3个月内未给予苄星青霉素治疗等因素,均可导致梅毒感染者发生皮肤黏膜、骨关节、心血管系统、神经系统、消化系统及呼吸系统少见或不典型病变,给诊断及治疗带来困难.概述近年来报道的梅毒少见临床表现,为临床医生提供更广泛的思路,及早发现及诊断梅毒,减少梅毒引起的系统性损害.

  13. Two rare manifestations of Q fever: splenic and hepatic abscesses and cerebral venous thrombosis, with literature review ma non troppo.

    Science.gov (United States)

    Gomes, Manuel Mendes; Chaves, Andreia; Gouveia, Ana; Santos, Lèlita

    2014-02-05

    Q fever is a zoonosis caused by Coxiella burnetii. It often manifests as a flu-like syndrome; other common manifestations are pneumonia, hepatitis and endocarditis. Its course may be acute or chronic. The authors present two clinical cases of Q fever with rare manifestations. Case 1: A 55-year-old man admitted due to abdominal pain, diarrhoea and fever. Blood tests showed elevated transaminases, low platelets and elevated C reactive protein, with normal white cell counts; abdominal ultrasound showed splenic and hepatic abscesses. Serologies to C burnetii were positive (1:640), leading to the diagnosis of Q fever with splenic and hepatic abscesses. Case 2: A 47-year-old man admitted due to headache after sneezing, with unstable gait and vertigo. A brain tomography showed cerebral venous thrombosis. After an exhaustive investigation, antibodies to C burnetii were found and were undoubtedly positive (1:5120), leading to the diagnosis of Q fever. Both patients were treated with oral doxycycline.

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

    Energy Technology Data Exchange (ETDEWEB)

    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.)

  15. Development of a database to record orofacial manifestations in patients with rare diseases: a status report from the ROMSE (recording of orofacial manifestations in people with rare diseases) database.

    Science.gov (United States)

    Hanisch, M; Hanisch, L; Benz, K; Kleinheinz, J; Jackowski, J

    2017-02-23

    The aim of this working group was to establish a ROMSE (recording of orofacial manifestations in people with rare diseases) database to provide clinicians, patients, and their families with better information about these diseases. In 2011, we began to search the databases Orphanet, OMIM(®) (Online Mendelian Inheritance in Man(®)), and PubMed, for rare diseases with orofacial symptoms, and since 2013, the collected information has been incorporated into a web-based, freely accessible database. To date, 471 rare diseases with orofacial signs have been listed on ROMSE, and 10 main categories with 99 subcategories of signs such as different types of dental anomalies, changes in the oral mucosa, dysgnathia, and orofacial clefts, have been defined. The database provides a platform for general clinicians, orthodontists, and oral and maxillofacial surgeons to work on the best treatments.

  16. Extremely rare borderline phyllodes tumor in the male breast: a case report.

    Science.gov (United States)

    Kim, Jung Gyu; Kim, Shin Young; Jung, Hae Yoen; Lee, Deuk Young; Lee, Jong Eun

    2015-01-01

    Phyllodes tumor of the male breast is an extremely rare disease, and far fewer cases of borderline phyllodes tumors than benign or malignant tumors in the male breast have been reported. We report a case of borderline phyllodes tumor in the male breast with imaging findings of the tumor and pathologic correlation.

  17. Linear Non Scarring Alopecia of the Scalp: A Rare Manifestation of Lupus Panniculitis

    Science.gov (United States)

    Kshetrimayum, Sandhyarani; Thokchom, Nandakishore; Hmar, Vanlalhriatpuii

    2016-01-01

    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. PMID:27688465

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

    Directory of Open Access Journals (Sweden)

    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.

  19. Bilateral Abducent Palsy in Leptospirosis- An Eye Opener to a Rare Neuro Ocular Manifestation: A Case Report

    Directory of Open Access Journals (Sweden)

    Mahadevaiah Mahesh

    2015-11-01

    Full Text Available Leptospirosis, a disease of great significance in tropical countries, presents commonly as a biphasic illness with acute febrile episode in the first phase followed by a brief afebrile period and then by the second phase of fever with or without jaundice and renal failure. However, it has varied manifestations and unusual clinical features ascribed to immunological phenomena can occur due to the additional involvement of pulmonary, cardiovascular, and neurological systems. Among the various neurological features, aseptic meningitis is the most common myeloradiculopathy, myelopathy, cerebellar dysfunction, transverse myelitis, Guillain-Barre syndrome, optic neuritis, peripheral neuropathy are also described. Cranial neuropathy involving facial nerve is a rare, but known neurological manifestation. Sixth nerve palsy in neuroleptospirosis has so far not been reported. We hereby present the occurrence of bilateral abducent nerve palsy in a patient with leptospirosis.

  20. Acute onset anarthria without hepatic manifestation: a rare presentation of Wilson disease

    OpenAIRE

    Verma, Rajesh; Bhandari, Aveg; Tiwari, Navin; Chaudhari, Tejendra S

    2013-01-01

    Wilson disease (WD) is one of the few inherited but treatable disorder mainly affecting the liver and brain resulting in severe disability or death if left untreated. Hence, it is important to keep a high index of suspicion for diagnosing this clinical entity in appropriate clinical settings. The clinical presentation can be quite variable and they may present solely with neurological features sans hepatic symptoms. Such neurological manifestations usually follow subacute to chronic course. A...

  1. Near fatal spontaneous intraperitoneal bleeding: A rare manifestation in a congenital factor X deficiency carrier

    Directory of Open Access Journals (Sweden)

    K V Vinod

    2015-01-01

    Full Text Available Congenital factor X (FX deficiency is a rare coagulation disorder of autosomal recessive inheritance, characterized by bleeding of variable severity. Bleeding severity generally correlates with the level of FX functional activity and severe bleeding usually occurs in moderate and severe deficiency, when FX coagulant activity is <5%. FX activity above 10% is infrequently associated with severe bleeding. Here we report the rare occurrence of life-threatening massive spontaneous intraperitoneal bleeding with hypovolemic shock, resulting from spontaneous rupture of an ovarian luteal cyst in a 25-year-old FX deficiency carrier woman, with a FX activity of 26%. She was managed successfully conservatively, with fresh frozen plasma and packed red blood cell transfusions and she showed gradual improvement. The case is being reported to discuss the diagnosis and management of this rare inherited coagulation disorder.

  2. Osteoma with cholesteatoma of the external auditory canal: neck manifestation of this rare association†.

    Science.gov (United States)

    Khoyratty, Fadil; Sweed, Ahmed; Douglas, Susan; Magdy, Tawfik

    2013-06-26

    Osteoma and cholesteatoma of the external auditory canal is a rare clinical finding, presenting specific challenges in patients suffering from this dual pathology of the ear. We report on a unique complication of this association in a patient suffering with recurrent neck abscesses. Neck disease secondary to cholesteatoma has become nearly extinct with better clinical imaging and sensible antibiotic usage.

  3. 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.

  4. Extreme sexual behavior in dementia as a specific manifestation of disinhibition.

    Science.gov (United States)

    Bartelet, Marjukka; Waterink, Wim; van Hooren, Susan

    2014-01-01

    In nursing homes, extreme sexual behavior is one of the most challenging behaviors in dementia. Despite this, however, there is no conformity in the literature regarding how to label and define this type of behavior. Examples of labels used include inappropriate sexual behavior, improper sexual behavior, sexually disinhibited behavior, or hyper sexuality. According to recent theoretical perspectives, extreme sexual behavior may be regarded as a part of disinhibited behavior or could be considered as an independent neuropsychiatric symptom. In this multicenter study, it was investigated whether there is a relationship between extreme sexual behavior and the typical neuropsychiatric symptoms seen in dementia. In 179 residents diagnosed with dementia, extreme sexual behavior was measured using an observation scale. Twelve neuropsychiatric symptoms were measured by the Neuropsychiatric Inventory. Multivariate analysis of covariance with gender showed that residents with observed extreme sexual behavior (n = 43) only showed a higher score on neuropsychiatric symptom 'disinhibition', as compared to residents with non-observed sexual behavior (n = 136). In addition, the effect size was large. These findings indicate that among residents with dementia, extreme sexual behaviors should not be considered as an independent neuropsychiatric symptom. Instead, disinhibition may be an important underlying mechanism for extreme sexual behavior and thus validates the label 'sexually disinhibited behavior'.

  5. Acute Transverse Myelitis (Ascending Myelitis as the Initial Manifestation of Japanese Encephalitis: A Rare Presentation

    Directory of Open Access Journals (Sweden)

    Varshney Ankur Nandan

    2013-01-01

    Full Text Available Japanese encephalitis, an inflammatory brain disease prevalent in Southeast Asia, usually presented with fever, headache, convulsions, brain stem signs with pyramidal and extrapyramidal features, and altered sensorium. Acute transverse myelitis, as the initial manifestation of Japanese encephalitis, is an unusual manifestation and is seldom reported. We hereby report a case of 13-year-old adolescent boy who presented to us with fever and acute onset paraparesis with urinary retention initially, progressing to quadriparesis and then followed by headache and altered sensorium. Brain MRI revealed bilateral basal ganglia that were grossly swollen with vasogenic edema tracking along internal capsule and midbrain. Adjacent ventrolateral thalamus and internal capsule also showed mild abnormal intensities. Spinal screening showed abnormal cord intensities in entire cord with gross edema in cervical and conus regions. He had elevated IgM titres against JE virus in cerebrospinal fluid. The patient was treated conservatively along with intravenous methyl prednisolone for 5 days. He regained near normal power at 3 months in followup, but hesitancy, dysarthria, and slowness of movement still persisted. To conclude, a young boy presenting with ATM in an endemic region of JE, then a possibility of Japanese encephalitis, should be sought by clinicians as early use of immunomodulator shows survival benefit.

  6. Uncommon pathogen: Serious manifestation: A rare case of Achromobacter xylosoxidans septic arthritis in immunocompetetant patient.

    Science.gov (United States)

    Suryavanshi, Kalpana Tikaram; Lalwani, Sanjay K

    2015-01-01

    Achromobacter xylosoxidans is a rare opportunistic Gram-negative bacilli and rarer etiology of septic arthritis. We present here the first Indian case of septic arthritis due to A. xylosoxidans in 11-month-old male child confirmed by 16S rRNA sequencing. The child was admitted as suspected case of septic arthritis and underwent arthrotomy. Drained pus revealed Gram-negative bacilli, identified as Serratia odorifera by API (bioMérieux, Marcy l'Ιtoile, France), later subjected to VITEK 2 (bioMérieux, Marcy l'Ιtoile, France) identification revealing it to be A. xylosoxidans. It being a rare etiology of septic arthritis confirmation was done with 16S rRNA Sequencing.

  7. Uncommon pathogen: Serious manifestation: A rare case of Achromobacter xylosoxidans septic arthritis in immunocompetetant patient

    Directory of Open Access Journals (Sweden)

    Kalpana Tikaram Suryavanshi

    2015-01-01

    Full Text Available Achromobacter xylosoxidans is a rare opportunistic Gram-negative bacilli and rarer etiology of septic arthritis. We present here the first Indian case of septic arthritis due to A. xylosoxidans in 11-month-old male child confirmed by 16S rRNA sequencing. The child was admitted as suspected case of septic arthritis and underwent arthrotomy. Drained pus revealed Gram-negative bacilli, identified as Serratia odorifera by API (bioMérieux, Marcy l′Ιtoile, France, later subjected to VITEK 2 (bioMérieux, Marcy l′Ιtoile, France identification revealing it to be A. xylosoxidans. It being a rare etiology of septic arthritis confirmation was done with 16S rRNA Sequencing.

  8. Lingual tuberculosis mimicking malignant lesion: A rare manifestation of a common disease

    Directory of Open Access Journals (Sweden)

    Rajendra Saugat

    2016-01-01

    Full Text Available We report a rare case of tuberculosis (TB of base of the tongue following pulmonary TB. Patient presented to us with chief complaints of sore throat, dysphagia, and hoarseness of voice for 20 days. Examination with 90° telescope revealed ulcerative lesion in the base of the tongue on the left side of size 0.5 cm and another lesion in the left arytenoid and inter arytenoid area extending to the false vocal cord of the left side with undermined edges along with whitish slough at the center of the ulcer. Infection of the oral cavity with Mycobacterium tuberculosis is rare, however, it should be considered among the differential diagnosis of the lesions of the oral cavity. The biopsy is necessary to confirm the diagnosis.

  9. Carpal tunnel syndrome: A rare manifestation of distal radius osteoid osteoma.

    Science.gov (United States)

    Basran, Sukhvinder Singh; Kumar, Sandeep; Jameel, Javed; Sajid, Imran

    2015-09-01

    Osteoid Osteoma is a benign bone tumor that normally affects long bones and rarely affects distal radius. Because of its nonspecific presentation in the wrist, it remains a diagnostic challenge. We report an unusual case of Osteoid Osteoma at distal radius having symptoms resembling that of carpal tunnel syndrome. The diagnosis was confirmed preoperatively with X-rays; bone scintigraphy, CT, and MRI, later histological examination confirmed the diagnoses. Surgical excision lead to a dramatic improvement in the condition of the patient.

  10. Away from the milky way: An extremely rare case of pulmonary ectopic breast

    Directory of Open Access Journals (Sweden)

    Rahim Mahmodlou

    2015-01-01

    Full Text Available Ectopic breast is defined as the presence of breast tissue outside the pectoral region. In this article, we are reporting an extremely rare case of pulmonary aberrant breast tissue. A 79-years-old Caucasian woman with the history of hypertension, diabetes mellitus and ischemic heart disease, presented to the emergency department for worsening dyspnea on exertion and pleuritic chest pain over the last few days. Both thoracic CT scan and the gross evaluation of tumor after its removal by thoracotomy were in favor of a soft tissue tumor such as pulmonary lipoma, whilst surprisingly the histological examinations revealed the mass to be ectopic breast tissue. Although it is extremely rare, this diagnosis should be considered in the evaluation of pulmonary masses.

  11. MRI Manifestation and Early Diagnosis of Bone Infarct: A Rare Complication of Steroid Therapy for Pemphigus

    Directory of Open Access Journals (Sweden)

    UC Parashari

    2011-07-01

    Full Text Available The objective of the study was to analyse the magnetic resonance imaging (MRI manifestation of bone infarction and explore the value of such imaging in early diagnosis. In bone infarction, aseptic osteonecrosis occurs in the metaphysis and diaphysis of long bones. The “Double line” sign in MRI is most characteristic of this lesion and is seen as high signal intensity in the inner zone along with lowsignal-intensity line in the outer zone in a T2 weighted image. In clinically suspected patients, MRI can be used for early diagnosis. Here we describe a case of pemphigus resulting from steroid therapy leading to development of bone infarction in the metadiaphyseal region of the femur and tibia.

  12. A rare case of puberty onset congenital erythropoietic porphyria with ophthalmological manifestations

    Directory of Open Access Journals (Sweden)

    Debjani Mishra

    2016-01-01

    Full Text Available A 27-year-old male patient was presented with foreign body sensation in both the eyes for 2 years duration and blisters followed by scarring and pigmentation in the photo-exposed areas of the body over the previous 12 years. His urine was reddish colored for the previous year. On examination, there was scarring, hyper-pigmentation of photo-exposed parts of the body along with resorption of the distal phalanges of fingers in both hands except the smallest digit which had onycholysis. Ocular examination indicated scleral necrosis in the interpalpebral areas in both eyes and bilateral dry eye. Hematological examination indicated a picture suggestive of hemolytic anemia. Abdominal ultrasonography indicated an enlarged spleen. These clinical features are suggestive of puberty onset congenital erythropoietic porphyria with ophthalmological manifestations.

  13. An Extremely Rare, Remote Intracerebral Metastasis of Oral Cavity Cancer: A Case Report

    OpenAIRE

    Mario Leimert; Juratli, Tareq A.; Claudia Lindner; Kathrin D Geiger; Johannes Gerber; Gabriele Schackert; Matthias Kirsch

    2013-01-01

    Distant brain metastases from oral squamous cell carcinomas (OSCC) are extremely rare. Here we describe a case of a 53-year-old man with a primary OSCC who referred to the neurosurgical department because of epileptic seizures. MR imaging revealed an enhancing lesion in the right parietal lobe. A craniotomy with tumor removing was performed. Histopathological examination verified an invasive, minimally differentiated metastasis of the primary OSCC. The patient refused whole brain radiation t...

  14. Triad of Intraspinal Meningioma, Schwannoma, and Ependymoma: Report of an Extremely Rare Case.

    Science.gov (United States)

    Rasheed, Faiza; Fatima, Saira; Ahmad, Zubair

    2016-02-01

    Mixed tumors composed of schwannoma and meningioma are extremely rare and are usually associated with neurofibromatosis type 2. So far, all the cases reported have involved the cerebellopontine angle. Only 3 reported cases did not have a clear association with neurofibromatosis type 2. We report a mixed tumor comprising schwannoma admixed with meningioma and ependymoma in the cervical spinal cord of a 22-year-old male. © The Author(s) 2015.

  15. An Extremely Rare Anatomical Variation: Abnormal Drainage of the Anterior Interventricular Coronary Vein

    Science.gov (United States)

    Okur, Aylin; Sade, Recep; Ogul, Hayri; Karaca, Leyla; Kantarci, Mecit

    2016-01-01

    Variation of anterior interventricular vein draining into the left atrium is an extremely rare occurrence. Multidetector computed tomography (MDCT) coronary angiography has recently become the gold standard for depicting anatomical variations and anomalies of coronary arteries and veins. We herein have reported the case of a 36-year-old male whose anterior interventricular vein draining into the left atrium was demonstrated by MDCT coronary angiography. PMID:27122958

  16. Intestinal anisakiasis can cause intussusception in adults:An extremely rare condition

    Institute of Scientific and Technical Information of China (English)

    Tomofumi; Miura; Akira; Iwaya; Takao; Shimizu; Junpei; Tsuchiya; Junichiro; Nakamura; Satoshi; Yamada; Tsutomu; Miura; Masahiko; Yanagi; Hiroyuki; Usuda; Iwao; Emura; Toru; Takahashi

    2010-01-01

    We report an extremely rare case of adult intussusception caused by anisakiasis. A 41-year-old man was admitted into our hospital for right lower abdominal colicky pain. Ultrasonography and computed tomography revealed the presence of intussusception. As pneumodynamic resolution by colonoscopy failed, surgery was performed. The anisakis body was found in the submucosal layer of the resection specimen. The patient was discharged 9 d after the operation. Anisakiasis may cause intussusception in any country wh...

  17. Orbital Pseudotumor as a Rare Extrahepatic Manifestation of Hepatitis C Infection

    Directory of Open Access Journals (Sweden)

    Benjamin Misselwitz

    2016-04-01

    Full Text Available Hepatitis C is frequently accompanied by immune-related extrahepatic manifestations affecting the skin, kidneys, central and peripheral nervous system and exocrine glands. We present the case of a 40-year-old man with left-sided ptosis, exophthalmos and headache. MRI demonstrated left-sided orbital pseudotumor with lacrimal and retro-orbital contrast enhancement extending to the cavernous sinus and the vestibulocochlear nerve. Immunological tests of serum and cerebrospinal fluid identified hepatitis C virus (HCV as a potential causative agent but did not indicate any additional infectious, malignant or immunological disorder. Hepatological evaluation revealed no signs of advanced liver disease. After initial spontaneous improvement, the patient subsequently developed vestibulocochlear failure with gait disorder, tinnitus and transient left-parietal sensory loss. Lacrimal biopsy demonstrated lymphocytic infiltrate, prompting steroid treatment. After initial improvement, steroids could not be tapered below 40 mg daily for several months due to recurrent symptoms. Twelve months after the initial presentation, the patient’s chronic HCV infection was successfully treated with sofosbuvir, simeprevir and ribavirin and he remains now free of symptoms without steroids. In patients with chronic hepatitis C, lymphocytic infiltrate of the salivary and lacrimal glands is a frequent phenomenon. However, the extent of the lymphocytic infiltrate beyond the lacrimal gland to the tip of the orbit, cavernous sinus and vestibulocochlear nerve as in our patient is highly unusual. For all symptomatic extrahepatic manifestations of hepatitis C infection, treatment of HCV as the underlying immune stimulus is recommended, and it helped to control the symptoms in our patient. In addition, long-term follow-up for recurrent lymphocyte infiltrate and development of lymphoma is warranted.

  18. Orbital Pseudotumor as a Rare Extrahepatic Manifestation of Hepatitis C Infection.

    Science.gov (United States)

    Misselwitz, Benjamin; Epprecht, Jana; Mertens, Joachim; Biedermann, Luc; Scharl, Michael; Haralambieva, Eugenia; Lutterotti, Andreas; Weber, Konrad P; Müllhaupt, Beat; Chaloupka, Karla

    2016-01-01

    Hepatitis C is frequently accompanied by immune-related extrahepatic manifestations affecting the skin, kidneys, central and peripheral nervous system and exocrine glands. We present the case of a 40-year-old man with left-sided ptosis, exophthalmos and headache. MRI demonstrated left-sided orbital pseudotumor with lacrimal and retro-orbital contrast enhancement extending to the cavernous sinus and the vestibulocochlear nerve. Immunological tests of serum and cerebrospinal fluid identified hepatitis C virus (HCV) as a potential causative agent but did not indicate any additional infectious, malignant or immunological disorder. Hepatological evaluation revealed no signs of advanced liver disease. After initial spontaneous improvement, the patient subsequently developed vestibulocochlear failure with gait disorder, tinnitus and transient left-parietal sensory loss. Lacrimal biopsy demonstrated lymphocytic infiltrate, prompting steroid treatment. After initial improvement, steroids could not be tapered below 40 mg daily for several months due to recurrent symptoms. Twelve months after the initial presentation, the patient's chronic HCV infection was successfully treated with sofosbuvir, simeprevir and ribavirin and he remains now free of symptoms without steroids. In patients with chronic hepatitis C, lymphocytic infiltrate of the salivary and lacrimal glands is a frequent phenomenon. However, the extent of the lymphocytic infiltrate beyond the lacrimal gland to the tip of the orbit, cavernous sinus and vestibulocochlear nerve as in our patient is highly unusual. For all symptomatic extrahepatic manifestations of hepatitis C infection, treatment of HCV as the underlying immune stimulus is recommended, and it helped to control the symptoms in our patient. In addition, long-term follow-up for recurrent lymphocyte infiltrate and development of lymphoma is warranted.

  19. Drug-induced acute pancreatitis: A rare manifestation of an incomplete "dapsone syndrome"

    Directory of Open Access Journals (Sweden)

    Anup K Das

    2014-01-01

    Full Text Available Drug-induced acute pancreatitis (AP is under-reported, and a large number of drugs are listed as offenders, but are often overlooked. Knowledge about the possible association of medications in causing AP is important, and needs a high index of suspicion, especially with drugs that have been reported to be the etiology only rarely. Dapsone, a commonly used drug, can cause various hypersensitivity reactions including AP collectively called "dapsone syndrome." Here, we report dapsone-induced AP in a young man. Our case shows certain dissimilarities like associated acute renal failure and acute hemolysis not previously described.

  20. Lupus vulgaris with endopthalmitis--a rare manifestation of extrapulmonary tuberculosis in India.

    Science.gov (United States)

    Bhandare, Chirag A; Barad, Prachi S

    2010-04-01

    We report a case of 17-year-old girl who presented with gradual destruction of the nose along with endopthalmitis and loss of vision of the left eye. On nasal examination, left alae nasi and nasal cartilage was destroyed. Left eye showed signs of endopthalmitis with pthisis bulbi with complete loss of vision. Skin biopsy, FNAC of the lymph nodes were suggestive of tubercular etiology. However, patient did not have any evidence of pulmonary TB. We report this case due to the rare clinical features. The importance of a high index of suspicion and prompt treatment in such atypical forms to prevent morbidity cannot be over-emphasised.

  1. Primary Extranodal Lymphomas of Lip – A Rare Manifestation in Sjogren’s Syndrome

    Science.gov (United States)

    V, Shwetha; B.K, Yashoda Devi; Mysorekar, Vijaya V; Kamath, Namrata P

    2014-01-01

    Sjogren’s syndrome (SS) is a chronic autoimmune disorder which is characterized by lymphocyte-mediated destruction of exocrine glands, which produces the classical symptoms of dry eyes and dry mouth, which is referred to as primary SS or the Sicca complex. When it is associated with another autoimmune disease such as rheumatoid arthritis or lupus erythematosus, the condition is termed as secondary SS. One of the known major complications in patients with Sjogren’s syndrome is the occurrence of Non-Hodgkin’s lymphoma of B cell type. It is not uncommon for malignant lymphomas to occur in head and neck region at nodal and sometimes, extranodal sites. However, only rarely may they involve the oral cavity primarily. This case report describes a rare occurrence of isolated extranodal lymphomas in the upper and lower lips of a patient, which clinically resembled a mucocele, and eventually was diagnosed as lymphoma which was associated with Sjogren’s syndrome, thereby stressing the importance which was played by an oral diagnostician. PMID:24783157

  2. Rare Lung Diseases: Interstitial Lung Diseases and Lung Manifestations of Rheumatological Diseases.

    Science.gov (United States)

    Ramamurthy, Mahesh Babu; Goh, Daniel Y T; Lim, Michael Teik Chung

    2015-10-01

    The concept of Childhood Interstitial Lung Disease (ChILD) is relatively young. There has been tremendous progress in this field in the last decade. The key advance has been the recognition of interstitial lung diseases that are often distinct and occur mainly in infants. Diagnosis is challenging because the incidence is low and no single center in the world has enough cases to promote experience and clinical skills. This has led to formation of international groups of people interested in the field and the "Children's interstitial and diffuse lung disease research network" (ChILDRN) is one such group which contributed to the progress of this field. Clinically, these disorders overlap with those of other common respiratory disorders. Hence, clinical practice guidelines emphasize the additional role of chest imaging, genetic testing and lung biopsy in the diagnostic evaluation. Genetic testing, in particular, has shown tremendous progress in this field. Being noninvasive, it has the potential to help early recognition in a vast majority. Despite progress, definitive therapeutic modalities are still lacking and supportive care is still the backbone of management in the majority. Early recognition of the definitive diagnosis helps in the management, even if, in a significant number, it helps in avoiding unnecessary therapy. Also discussed in this article, is the pulmonary manifestation of rheumatic diseases in children. The incidence and spectrum of pulmonary involvement in rheumatic conditions vary and can be result of the primary disease or its management or due to an concurrent infection.

  3. Right iliac fossa abscess as first manifestation of perforated adenocarcinoma of sigmoid: a rare case report

    Institute of Scientific and Technical Information of China (English)

    Mohammad Hossein Hajisadeghizadeh; Hamid Reza Soltani. G; Seyed Mohammad Reza Mortazavizadeh; Fatemeh Akhiri A

    2012-01-01

    Colorectal cancer usually present with known symptoms while there are less common manifestation including abscess formation which can be intra or extra peritoneal. A 60-year-old Caucasian male with a history of RLQ abdominal pain, nausea, vomiting and anorexia from 15 days ago referred to surgery ward. Ultrasound showed a hypoachoic lesion with diameters 50 mm × 70 mm in RLQ of abdomen and a round echogenic area in right lobe of liver with diameter 15 mm. The findings were revealed an abscess located in right iliac fossa then local drainage of abscess was performed. Four days later the patient was re-admitted because of severe abdominal distention and lack of bowel movement. Laparoscopy was performed before proceeding with further examinations, due to the poor general condition of the patient. The sigmoid was adherent into the abdominal wall and mild intestinal loop distention and apple-core view was observed during operation. Can-cer of sigmoid complicated by a right iliac fossa abscess was diagnosed and Hartman colestomy was undertaken. At the last follow-up examination 3 months after operation, the patient was in good health with no clinical evidence of recurrence.

  4. A Rare Manifestation of Pigmented Villonodular Synovitis of the Elbow in a Child.

    Science.gov (United States)

    Su, Hsiu; Gould, Elaine; Penna, James; Meng, Hong

    2008-01-01

    There are only a few reported cases in the literature of pigmented villonodular synovitis (PVNS) involving the elbow. Even more rare is its occurrence in the pediatric population as this condition mainly affects young adults. We report a unique case of an 8 year old girl presenting with diffuse form of PVNS of the elbow. The diagnosis is often not considered by clinical history and plain films as both are nonspecific in suggesting PVNS. MRI demonstrates the characteristic findings of PVNS, and therefore, is the imaging modality of choice for the evaluation of PVNS. When evaluating a pediatric patient with elbow pain, it is important to be aware of PVNS as part of the differential diagnosis if imaging features are suggestive and other etiologies have been excluded by history or imaging.

  5. A rare case report of bilateral testicular masses as an initial manifestation of systemic sarcoidosis

    Directory of Open Access Journals (Sweden)

    Hiren Patel

    2015-01-01

    Full Text Available Sarcoidosis is an idiopathic, systemic disease that rarely involves the genitourinary tract. Here, we present a case of a 40-year-old male presented with bilateral scrotal swelling. The scrotal ultrasound showed multiple echogenic masses bilaterally ranging between 3 mm and 15 mm involving both testicles. Enlarged retroperitoneal lymph nodes were detected on the abdominal computed tomography (CT. Surgical exploration of the testes with a frozen section analysis of the left testicular mass was carried out, and it revealed noncaseating granulomas. CT scan of the chest revealed the classic bilateral hilar and mediastinal lymphadenopathy with reticulonodular infiltrates. The final pathological diagnosis was systemic sarcoidosis with bilateral testicular involvement. Treatment with high-dose corticosteroids resulted in complete resolution of the testicular mass and a significant decrease in the size of the hilar, mediastinal, and retroperitoneal lymphadenopathy.

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

    Directory of Open Access Journals (Sweden)

    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.

  7. [Chilaiditi's syndrome complicated by subdiaphragmatic perforated appendicitis: unusual manifestation of a rare condition].

    Science.gov (United States)

    Lenz, M; Kindler, M; Schilling, M; Pollack, T; Schwab, W; Becker, M

    2011-09-01

    We report on a case of an 80-year-old female patient who presented to the emergency room of with right upper quadrant abdominal pain since the day before. During the initial diagnostic an abdominal x-ray study revealed an air-filled colonic section of the bowel under the right hemidiaphragm corresponding to Chilaiditi's sign. The clinical symptoms and laboratory results were mild at this time. After 12 h the patient developed right upper quadrant peritonitis due to a perforated, subdiaphragmatic appendicitis based on Chilaiditi's syndrome. During surgical treatment the cecum and parts of the ascending colon were found to be interposed between the liver and right hemidiaphragm. A right hemicolectomy was performed which led to complete recovery of the patient. In addition to presenting this interesting case this article highlights the regime of the diagnostics and therapy of a complication of the very rare condition of Chilaiditi's syndrome.

  8. Cutaneous manifestations in trisomy 13 mosaicism: A rare case and review of the literature.

    Science.gov (United States)

    Wieser, Iris; Wohlmuth, Christoph; Rittinger, Olaf; Fischer, Thorsten; Wertaschnigg, Dagmar

    2015-10-01

    Trisomy 13 mosaicism is a rare genetic disorder affecting a small minority of all trisomy 13 cases. It occurs when two cell populations that are karyotypically different are present in the same individual and are derived from a single zygote. As a rule, the phenotype is mitigated to a less dysmorphic appearance and longer survival, making genetic counseling a difficult task. Capillary hemangiomas are a common feature of full trisomy 13, seen in 27-56% of all cases. We report on an 18-months-old girl with extensive cutaneous anomalies, mild dysmorphic features, and slight psychomotor delay, without structural defects and provide an up-to-date review of all cases of trisomy 13 mosaicism with skin involvement. To our knowledge, this is the second clinical report of a patient with trisomy 13 mosaicism with hemangiomas and port wine stains, but no structural defects. © 2015 Wiley Periodicals, Inc.

  9. Manifestations of Warped Extra Dimension in Rare Charm Decays and Asymmetries

    CERN Document Server

    Paul, Ayan; Bigi, Ikaros I

    2012-01-01

    Charm dynamics is moving back into focus with the established discovery of oscillations in the neutral D meson system and the sign of direct CP asymmetry in D0 to pi+ pi- / K+ K-. It opens the possibilities of finding CP violation beyond the reach of the Standard Model. In the recent past we have extensively studied charm dynamics within non-ad-hoc models with interesting flavour structures. We have shown that rare decays and CP violations are the best places to probe for New Dynamics in charm. We continue to study a different class of models, i.e., the Randall Sundrum model with a warped extras dimension to check for unusual effects in charm dynamics: namely in decays of final states with leptons and neutrinos and some asymmetries. These states should typically be accessible to experimental probes in the near future and, for certain, to any super flavour factory.

  10. Clinical manifestations and arsenic methylation after a rare subacute arsenic poisoning accident.

    Science.gov (United States)

    Xu, Yuanyuan; Wang, Yi; Zheng, Quanmei; Li, Bing; Li, Xin; Jin, Yaping; Lv, Xiuqiang; Qu, Guang; Sun, Guifan

    2008-06-01

    One hundred and four workers ingested excessive levels of arsenic in an accident caused by leakage of pipeline in a copper-smelting factory. Clinical examinations were performed by physicians in a local hospital. Excreted urinary arsenic species were determined by cold trap hydride generation atomic absorption spectrometry. In the initial toxic phase, gastrointestinal symptoms were predominant (83 people, 79.8%). Most patients showed leucopenia (72 people, 69.2%), and increased serum alanine aminotransferase (84 people, 80.8%) and aspartate aminotransferase (58 people, 55.8%). Thirty-five patients (33.6%) had elevated red blood cells in urine. After 17 days of admission, many subjects (45 people, 43.3%) developed peripheral neuropathy and 25 of these 45 patients (24.0%) showed a decrease in motor and sensory nerve conduction velocity. In the comparison of urinary arsenic metabolites among subacute arsenic-poisoned, chronic high arsenic-exposed and control subjects, we found that subacute arsenic-poisoned patients had significantly elevated proportions of urinary inorganic arsenic (iAs) and methylarsonic acid (MMA) but reduced proportion of urinary dimethylarsinic acid (DMA) compared with chronic high arsenic-exposed and control subjects. Chronic exposed subjects excreted higher proportions of iAs and MMA but lower proportions of DMA in urine compared with control subjects. These results suggest that gastrointestinal symptoms, leucopenia, and hepatic and urinary injury are predominant in the initial phase of subacute arsenic poisoning. Peripheral neuropathy is the most frequent manifestation after the initial phase. The biomethylation of arsenic decreases in a dose rate-dependent manner.

  11. Atypical Trigeminal Neuralgia: A Rare Neurological Manifestation of Systemic Lupus Erythematosus

    Science.gov (United States)

    Kumar, Viki; Kaur, Jaspinder; Pothuri, Pallavi; Bandagi, Sabiha

    2017-01-01

    Patient: Female, 53 Final Diagnosis: Atypical trigerminal neuralgia Symptoms: Right sided facial pain Medication: — Clinical Procedure: None Specialty: Rheumatology Objective: Unusual clinical course Background: Systemic lupus erythematosus (SLE) is a multisystem autoimmune disorder of unknown etiology which can present at any age with symptoms of mucocutaneous, musculoskeletal, renal, central nervous system, and non-specific clinical pictures making the disease a “master of mimicry”. Case Report: A 53-year-old female, who was recently diagnosed with SLE, presented with right-sided sharp and electric shock-like facial pain starting at the side of her right nostril and traveling down the naso-labial fold and then back to the angle of the jaw, mostly in the region of V2–V3 distribution with no radiation beyond trigeminal distribution. Her pain had been going for the last 2 years and was regarded as “pretrigeminal neuralgia”; however, it progressed in frequency over the last 2 weeks, with no clear identifying triggering factors. Her laboratory test results showed positive anti-nuclear antibodies (ANA) with raised titer, anti-double-stranded DNA, anti-ribonucleoprotein, anti-Sjögren’s syndrome-related antigen A, anti-Sjögren’s syndrome-related antigen B, and anti-smooth muscle antibodies. Other possibilities of migraine, postherpetic neuralgia, Bell’s palsy, and brain tumor were ruled out. A diagnosis of SLE with trigeminal neuralgia (TN) was made and carbamazepine 100 mg 2 times a day was prescribed. Conclusions: TN is seldom mentioned as a neurological manifestation of SLE; hence, we recommend further studies to investigate the SLE-mediated injury to trigeminal fibers to make a timely diagnosis of TN and to prevent progressive autoimmune process-related vasculitic and demyelinating changes. PMID:28077839

  12. Atypical Trigeminal Neuralgia: A Rare Neurological Manifestation of Systemic Lupus Erythematosus.

    Science.gov (United States)

    Kumar, Viki; Kaur, Jaspinder; Pothuri, Pallavi; Bandagi, Sahiba

    2017-01-12

    BACKGROUND Systemic lupus erythematosus (SLE) is a multisystem autoimmune disorder of unknown etiology which can present at any age with symptoms of mucocutaneous, musculoskeletal, renal, central nervous system, and nonspecific clinical pictures making the disease a "master of mimicry". CASE REPORT A 53-year-old female, who was recently diagnosed with SLE, presented with right-sided sharp and electric shock-like facial pain starting at the side of her right nostril and traveling down the naso-labial fold and then back to the angle of the jaw, mostly in the region of V2-V3 distribution with no radiation beyond trigeminal distribution. Her pain had been going for the last 2 years and was regarded as "pretrigeminal neuralgia"; however, it progressed in frequency over the last 2 weeks, with no clear identifying triggering factors. Her laboratory test results showed positive anti-nuclear antibodies (ANA) with raised titer, anti-double-stranded DNA, anti-ribonucleoprotein, anti-Sjögren's syndrome-related antigen A, anti-Sjögren's syndrome-related antigen B, and anti-smooth muscle antibodies. Other possibilities of migraine, postherpetic neuralgia, Bell's palsy, and brain tumor were ruled out. A diagnosis of SLE with trigeminal neuralgia (TN) was made and carbamazepine 100 mg 2 times a day was prescribed. CONCLUSIONS TN is seldom mentioned as a neurological manifestation of SLE; hence, we recommend further studies to investigate the SLE-mediated injury to trigeminal fibers to make a timely diagnosis of TN and to prevent progressive autoimmune process-related vasculitic and demyelinating changes.

  13. Pancreatic paraganglioma: An extremely rare entity and crucial role of immunohistochemistry for diagnosis

    Directory of Open Access Journals (Sweden)

    Mondita Borgohain

    2013-01-01

    Full Text Available Paragangliomas are rare neuroendocrine neoplasms arising in extra-adrenal chromaffin cells of autonomic nervous system and histologically akin to chemodectomas. They are rare, affecting about 1 in 2,000,000 population. It is a generic term applied to tumors of paraganglia regardless of the location. In rare instances, paragangliomas present around and involve the pancreas, thereby mimicking any one of the more common primary pancreatic lesions. Pancreatic paraganglioma is an extremely rare tumor. It grows slowly, so radical resection is recommended to achieve curability with good prognosis. These neoplasms present considerable diagnostic difficulty not only for the clinician and radiologist but also for the pathologist. Here, we report a case of a 55-year-old woman who presented with a left-sided abdominal swelling for 3 months duration, initially having clinical suspicion of an ovarian tumor. The radiological imaging revealed a lesion in the tail of pancreas with a differential diagnosis of pancreatic carcinoma and metastatic tumor. Only after exploratory laparotomy, the diagnosis was made as a rare case of pancreatic paraganglioma on the basis of histological examination and immunohistochemistry.

  14. Pancreatic paraganglioma: An extremely rare entity and crucial role of immunohistochemistry for diagnosis

    Science.gov (United States)

    Borgohain, Mondita; Gogoi, Gayatri; Das, Dipak; Biswas, Manjusha

    2013-01-01

    Paragangliomas are rare neuroendocrine neoplasms arising in extra-adrenal chromaffin cells of autonomic nervous system and histologically akin to chemodectomas. They are rare, affecting about 1 in 2,000,000 population. It is a generic term applied to tumors of paraganglia regardless of the location. In rare instances, paragangliomas present around and involve the pancreas, thereby mimicking any one of the more common primary pancreatic lesions. Pancreatic paraganglioma is an extremely rare tumor. It grows slowly, so radical resection is recommended to achieve curability with good prognosis. These neoplasms present considerable diagnostic difficulty not only for the clinician and radiologist but also for the pathologist. Here, we report a case of a 55-year-old woman who presented with a left-sided abdominal swelling for 3 months duration, initially having clinical suspicion of an ovarian tumor. The radiological imaging revealed a lesion in the tail of pancreas with a differential diagnosis of pancreatic carcinoma and metastatic tumor. Only after exploratory laparotomy, the diagnosis was made as a rare case of pancreatic paraganglioma on the basis of histological examination and immunohistochemistry. PMID:24083178

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

    Directory of Open Access Journals (Sweden)

    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.

  16. A rare manifestation of burns after lightning strike in rural Ghana: a case report.

    Science.gov (United States)

    Apanga, Paschal Awingura; Azumah, John Atigiba; Yiranbon, Joseph Bayewala

    2017-07-25

    Lightning is a natural phenomenon that mostly affects countries in the tropical and subtropical regions of the globe, including Ghana. Lightning strikes pose a global public health issue. Although strikes to humans are uncommon, it is associated with high morbidity and mortality. We present a case of a 10-year-old Ghanaian girl who got second-degree burns after being struck by lightning. She was put on an intravenous broad-spectrum antibiotic (ceftriaxone), Ringer's lactate, and her burns were dressed with sterile gauze impregnated with Vaseline (petroleum jelly) and silver sulfadiazine ointment. There was marked improvement on the 16(th) day of treatment despite the lack in capacity of the hospital to carry out some laboratory diagnostic tests. On the 21(st) day of treatment, the burns were completely healed without scars and contractures. This is evidence of burns due to lightning strike, despite its rare occurrence. This report will help inform those in doubt, particularly in communities where lightning injuries are associated with widespread superstition. The case report also revealed how rural healthcare can be challenging amid a lack of basic diagnostic equipment and logistics. However, in resource-limited settings, Vaseline (petroleum jelly) and silver sulfadiazine could be used in the treatment of burns.

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

    Science.gov (United States)

    Gupta, Ruchika; Sharma, Alok; Agarwal, Sanjay K; Dinda, Amit K

    2015-11-01

    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.

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

    Directory of Open Access Journals (Sweden)

    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.

  19. Nasal angiomyolipoma: Report of two cases of an extremely rare entity.

    Science.gov (United States)

    Aleem, Mohammed Abdul; Fatima, Ather; Kumudachalam, P; Priyadarshini, Ramya

    2017-01-01

    Nasal angiomyolipoma (AML) are extremely rare tumors and so far <15 cases have been reported in the literature, and this is the first instance that Nasal AML is reported from India. We report two cases of AML arising in the nasal cavity described in 60-year-old male and 50-year-old female patient. Grossly, they were well circumscribed, lobulated masses, and microscopically, they were composed of an intimate mixture of mature fat, smooth muscle cells, and thick-walled varying sized blood vessels. Immunoexpression pattern and histopathology were characteristic. Both the patients had complete resolution of symptoms after endoscopic excision of the tumor.

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

    Directory of Open Access Journals (Sweden)

    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.

  1. Extreme Heat Wave over European Russia in Summer 2010: Anomaly or a Manifestation of Climatic Trend?

    Science.gov (United States)

    Razuvaev, V.; Groisman, P. Y.; Bulygina, O.; Borzenkova, I.

    2010-12-01

    Extraordinary temperature anomalies over European Russia (ER) in summer 2010 raised a legitimate question in the title of this presentation. A 60-days-long hot anticyclonic weather system with daily temperature anomalies as high as +10K and no or negligible amount of rainfall first decimated crops in the forest-steppe zone of ER, gradually dried wetlands in the forest zone and, finally, caused numerous natural and anthropogenic fires that at the time of this abstract preparation have not yet been extinguished. The extreme heat, lack of precipitation, and forest fires have caused hundreds of deaths and multimillion dollars in property losses. Indirect losses of lives due to this weather anomaly, with the ensuing fires and related air pollution, as well as the absence of air conditioning in apartments has yet to be estimated. The center of European Russia was well covered by meteorological observations for the past 130 years. These data, historical weather records (yearbooks or "letopisi" , which were carried on in the major Russian monasteries), and finally, dendroclimatological information, all show that this summer temperature anomaly was well above all known extremes in the past 1000 years. Like ocean waves and ocean tides, weather and climate variability go together strengthening (or mitigating) each other. We shall show the precursors of the current outbreak using principally the most accurate meteorological records of the past century updated to 2009 (at the Session, the 2010 data will also be presented). While a careful analyses of these records and thoughtful analyses of recent similar temperature outbreaks in Western Europe could not prevent the occurrence of this disaster, the lessons learned from these analyses (a) would warn about its increasing probability and (b) mitigation and adaptation measures could well be made to reduce its negative consequences. Among our arguments are: (1)There is a century-long tendency of reduction of equator minus pole

  2. CBS 78 - A second extremely rare DBZ degenerate star with accreted calcium

    Science.gov (United States)

    Sion, E. M.; Shipman, H. L.; Wagner, R. M.; Starrfield, S. G.; Liebert, J.

    1986-09-01

    The paper reports the discovery of a second, extremely rare DBZ degenerate CBS 78 which reveals photospheric calcium in its nearly pure helium atmosphere. The presence of calcium strongly suggests accretion of interstellar matter as its origin, but hydrogen is not detected. The properties of CBS 78 are compared with other cool helium-rich degenerates with metals. The suggested existence of an empirical correlation between the hydrogen-to-calcium abundance ratio and effective temperature is confirmed. This correlation shows that above a critical temperature of about 11,000 K, a screening mechanism is operative which prevents accretion of interstellar hydrogen onto white dwarfs; this mechanism apparently does not operate at lower temperatures.

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

    Science.gov (United States)

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

    2016-01-01

    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.

  4. Urethral protrusion of the abdominal catheter of ventriculoperitoneal shunt: Case report of extremely rare complication

    Directory of Open Access Journals (Sweden)

    Ugur Yazar

    2012-01-01

    Full Text Available Hydrocephalus in its various forms constitutes one of the major problems in pediatric neurosurgical practice. The placement of a ventriculoperitoneal (VP shunt is the most common form of treatment for hydrocephalus, so that all neurosurgeons struggle with shunt malfunctions and their complications. Well-known complications are connected with the use of the valve systems (malfunction, infectious, overdrainage, secondary craniosynostosis, etc.. We report an unusual case of protruding abdominal catheter from the urethra. This girl had received a VP shunt for hydrocephalus following surgery of posterior fossa medulloblastoma 4 years ago. After admission, the entire system was removed, antibiotic treatment was administered for 2 weeks, and a new VP shunt was placed. The postoperative course was uneventful. This complication is extremely rare.

  5. New approaches for rainfall ensemble post-processing with a focus on extreme and rare events

    Science.gov (United States)

    Taillardat, Maxime; Mestre, Olivier; Fougères, Anne-Laure; Naveau, Philippe

    2017-04-01

    Ensemble forecasts of rainfall are very important for decision making such as storm warnings or flood risk downstream watersheds. We present a statistical post-processing method based on an extension of Quantile Regression Forests (QRF) for heavy-tailed distributions. Our proposed method is applied to daily 51-h forecasts of 6-h accumulated precipitation from 2012 to 2015 over France using the Météo-France ensemble prediction system called PEARP. It provides calibrated predictive distributions and competes favourably with methods like Analog method or EMOS, which we try to improve using some new predictors and distributions derived from hydrology. We also discuss about evaluation of ensemble forecasts for extreme and rare events. Our goal is to improve drastically ensemble quality for these events subject to a good overall performance.

  6. Verrucous carcinoma in external auditory canal: Presentation of an extremely rare case

    Directory of Open Access Journals (Sweden)

    Md Zillur Rahman

    2013-01-01

    Full Text Available Verrucous carcinoma is a variant of squamous cell carcinoma. It is of low grade malignancy and rarely present with distant metastasis. Oral cavity is the commonest site of this tumor, other sites are larynx, oesophagus, and genitalia. Verrucous carcinoma in external auditory canal is extremely rare. This is the presentation of a 45-year-old woman who came to the ENT and Head Neck Surgery department of Delta Medical College with discharg from left ear and impairment of hearing on the same side for 7 years. Otoscopic examination showed that the skin of external auditory canal was thickened, papillary and blackish. External auditory canal bone was found eroded. Cytology from external auditory canal scrap showed hyperkeratosis and parakeratosis. Excision of the external auditory canal mass was done under G/A. Whole skin from external auditory canal was excised under microscope. Split thickness skin grafting was done in external auditory canal. The specimen was sent for histopathological examination which revealed as verrucous carcinoma. Subsequently, she was treated by radiotherapy. Six months follow-up shows no recurrence.

  7. SHIELD II: AGC 198507 - An Extremely Rare Low-Mass Galaxy Interaction?

    Science.gov (United States)

    Nikolina Borg Stevens, Karin; Cannon, John M.; McNichols, Andrew; McQuinn, Kristen B.; Teich, Yaron; SHIELD II Team

    2016-01-01

    The "Survey of HI in Extremely Low-mass Dwarfs II" ("SHIELD II") is a multiwavelength, legacy-class observational campaign that is facilitating the study of both internal and global evolutionary processes in low-mass dwarf galaxies discovered by the Arecibo Legacy Fast ALFA (ALFALFA) survey. New HST imaging of one of these sample galaxies, AGC 198507, has revealed it to be a very rare interacting system; to our knowledge this is one of only a few known interactions in this extreme mass range. WSRT imaging indicates that the bulk of the HI is associated with the more luminous AGC 198507, while low surface brightness gas extends toward and coincides with the less luminous companion, which is separated by roughly 1.5 kpc from AGC 198507. Here we present new VLA B configuration HI imaging that allows us to localize the HI gas, to examine the rotational dynamics of AGC 198507, and to study the nature of star formation in this unique low-mass interacting system.Support for this work was provided by NSF grant AST-1211683 to JMC at Macalester College, and by NASA through grant GO-13750 from the Space Telescope Science Institute, which is operated by AURA, Inc., under NASA contract NAS5-26555.

  8. Pneumoperitoneum in in-vitro Conceived Quadruplet Neonate: Rare Manifestation of Hirschsprungʼs Disease – Report of a Case

    Directory of Open Access Journals (Sweden)

    Jakov Mihanović

    2016-03-01

    Full Text Available Introduction: Hirschsprung’s disease is a congenital colonic aganglionosis, usually presented as inability or difficulty in passing of meconium, chronic and persistent obstipation, maleficent feeding, vomiting, distension and lethargy. Case presentation: We presented a case of an in-vitro conceived quadruplet premature neonate who presented with pneumoperitoneum caused by transverse colon spontaneous perforation and microcolon appearance of distal bowel, treated by resection and temporary colostomy turns to be a rare manifestation of Hirschsprung’s disease. Conclusion: Assisted reproductive technologies increases chances for multiple pregnancies and may increase chance for major congenital anomalies. Rare manifestation of Hirschsprung’s disease is spontaneous pneumoperitoneum which remains a surgical emergency. Delay in recognizing and treatment can significantly worsen prognosis. In neonate with intestinal perforation one should consider Hirschsprung’s disease.

  9. 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.)

  10. Adult Onset Still’s Disease: A Case Report with a Rare Clinical Manifestation and Pathophysiological Correlations

    Directory of Open Access Journals (Sweden)

    Katerina M. Antoniou

    2013-01-01

    Full Text Available Adult-onset Still’s disease is an inflammatory multisystemic disease of unknown etiology. Pleuritis is the most common pulmonary manifestation and pleural effusions are usually exudates with a predominance of neutrophils. We report a case of an eosinophilic pleural effusion as a novel and hitherto unrecognized manifestation of active adult-onset Still’s disease. We also observed a marked NLRP3 inflammasome activation with increased production of IL-1β which coincided with the development and resolved upon remission of the pleural effusion suggesting a possible novel pathogenetic pathway for the development of pleural effusions in the context of the auto-inflammatory disorders.

  11. Detecting the Common and Individual Effects of Rare Variants on Quantitative Traits by Using Extreme Phenotype Sampling

    Directory of Open Access Journals (Sweden)

    Ya-Jing Zhou

    2016-01-01

    Full Text Available Next-generation sequencing technology has made it possible to detect rare genetic variants associated with complex human traits. In recent literature, various methods specifically designed for rare variants are proposed. These tests can be broadly classified into burden and nonburden tests. In this paper, we take advantage of the burden and nonburden tests, and consider the common effect and the individual deviations from the common effect. To achieve robustness, we use two methods of combining p-values, Fisher’s method and the minimum-p method. In rare variant association studies, to improve the power of the tests, we explore the advantage of the extreme phenotype sampling. At first, we dichotomize the continuous phenotypes before analysis, and the two extremes are treated as two different groups representing a dichotomous phenotype. We next compare the powers of several methods based on extreme phenotype sampling and random sampling. Extensive simulation studies show that our proposed methods by using extreme phenotype sampling are the most powerful or very close to the most powerful one in various settings of true models when the same sample size is used.

  12. Sarcoidose na infância com manifestações raras: vasculite, acometimento do sistema nervoso central, ósseo e genital Sarcoidosis in childhood with rare manifestations: vasculitis, central nervous system, bone and genital involvement

    Directory of Open Access Journals (Sweden)

    Cáris de Rezende Pena

    2005-10-01

    Full Text Available Sarcoidose é uma doença granulomatosa sistêmica de ocorrência rara em crianças. Vasculite associada à sarcoidose é incomum e pode acometer vasos de pequeno a grande calibres. Envolvimento sintomático do sistema nervoso central e periférico ocorre em 5% a 10% dos pacientes e acometimento ósseo em 3% a 13%. Sarcoidose do trato geniturinário é extremamente rara. Descrevemos o caso de uma criança de 12 anos com diagnóstico de sarcoidose associada à vasculite, acometimento do sistema nervoso central, ósseo e genital. O amplo espectro de manifestações clínicas raras neste caso ilustra o caráter multissistêmico e multifacetário da sarcoidose.Sarcoidosis is a systemic granulomatous disease with rare occurrence in children. Vasculitis associated to sarcoidosis is uncommon and can affect small, medium or large-sized vessels. Symptomatic involvement of the central nervous and peripheral system occurs in 5% to 10% of the patients and osseous in 3% to 13%. Sarcoidosis of the genitourinary tract is extremely rare. We describe a case of a 12-year-old child with a diagnosis of sarcoidosis associated with vasculitis and with involvement of the central nervous system, osseous and genital. This case illustrates the wide spectrum of rare clinical manifestations in sarcoidosis.

  13. Intracerebral hemorrhage: a rare late manifestation of vitamin-K deficiency in a breastfed infant. A case report.

    Science.gov (United States)

    Soylu, H; Aslan, Y; Sari, A; Erduran, E

    1997-01-01

    Late hemorrhagic disease of the newborn (HDN) is a rare complication of vitamin-K deficiency and is especially associated with intracranial hemorrhage. It may also occur in infants who received vitamin-K prophylaxis at birth. Here, we reported a case of late HDN with frontal lobe hemorrhage due to vitamin-K deficiency. This form of intracranial hemorrhage of late HDN has been reported in the literature very rarely. We conclude that the efficiency of single-dose vitamin-K prophylaxis should be revaluated.

  14. Paraneoplastic Syndrome in Splenic Marginal Zone Lymphoma: A Rare Phenomenon of Paraplegia as an Atypical Presenting Manifestation

    Directory of Open Access Journals (Sweden)

    Jessica Schering

    2016-01-01

    Full Text Available We describe a case presenting complaint of complete lower body paraparesis, which was discovered to have splenic marginal zone lymphoma (SMZL. While paraneoplastic syndromes are more common in tumors, such as small cell lung cancer, very few reports exist on this condition with SMZL. We describe such a rare entity with a clinical course spanning twenty-four months after diagnosis.

  15. Diffuse Hepatic Hemangiomatosis in the Adult without Extra-hepatic Involvement: An Extremely Rare Occurrence.

    Science.gov (United States)

    Batista, Alexandre; Matos, António Pedro; Neta, Jorge Oliveira E; Ramalho, Miguel

    2014-01-01

    We present a case of a pathologically proven multinodular diffuse hepatic hemangiomatosis (DHH) with no extra-hepatic involvement in a 68-year-old male. Cavernous hemangioma is the most common hepatic tumor. However, DHH, which is characterized by extensive replacement of liver parenchyma with hemangiomatous lesions, has been rarely reported in adults. The etiology and clinical course are not completely understood because of its rareness, although the diagnosis might be suggested by the magnetic resonance imaging findings.

  16. Population sequencing of two endocannabinoid metabolic genes identifies rare and common regulatory variants associated with extreme obesity and metabolite level

    Science.gov (United States)

    2010-01-01

    Background Targeted re-sequencing of candidate genes in individuals at the extremes of a quantitative phenotype distribution is a method of choice to gain information on the contribution of rare variants to disease susceptibility. The endocannabinoid system mediates signaling in the brain and peripheral tissues involved in the regulation of energy balance, is highly active in obese patients, and represents a strong candidate pathway to examine for genetic association with body mass index (BMI). Results We sequenced two intervals (covering 188 kb) encoding the endocannabinoid metabolic enzymes fatty-acid amide hydrolase (FAAH) and monoglyceride lipase (MGLL) in 147 normal controls and 142 extremely obese cases. After applying quality filters, we called 1,393 high quality single nucleotide variants, 55% of which are rare, and 143 indels. Using single marker tests and collapsed marker tests, we identified four intervals associated with BMI: the FAAH promoter, the MGLL promoter, MGLL intron 2, and MGLL intron 3. Two of these intervals are composed of rare variants and the majority of the associated variants are located in promoter sequences or in predicted transcriptional enhancers, suggesting a regulatory role. The set of rare variants in the FAAH promoter associated with BMI is also associated with increased level of FAAH substrate anandamide, further implicating a functional role in obesity. Conclusions Our study, which is one of the first reports of a sequence-based association study using next-generation sequencing of candidate genes, provides insights into study design and analysis approaches and demonstrates the importance of examining regulatory elements rather than exclusively focusing on exon sequences. PMID:21118518

  17. Population sequencing of two endocannabinoid metabolic genes identifies rare and common regulatory variants associated with extreme obesity and metabolite level.

    Science.gov (United States)

    Harismendy, Olivier; Bansal, Vikas; Bhatia, Gaurav; Nakano, Masakazu; Scott, Michael; Wang, Xiaoyun; Dib, Colette; Turlotte, Edouard; Sipe, Jack C; Murray, Sarah S; Deleuze, Jean Francois; Bafna, Vineet; Topol, Eric J; Frazer, Kelly A

    2010-01-01

    Targeted re-sequencing of candidate genes in individuals at the extremes of a quantitative phenotype distribution is a method of choice to gain information on the contribution of rare variants to disease susceptibility. The endocannabinoid system mediates signaling in the brain and peripheral tissues involved in the regulation of energy balance, is highly active in obese patients, and represents a strong candidate pathway to examine for genetic association with body mass index (BMI). We sequenced two intervals (covering 188 kb) encoding the endocannabinoid metabolic enzymes fatty-acid amide hydrolase (FAAH) and monoglyceride lipase (MGLL) in 147 normal controls and 142 extremely obese cases. After applying quality filters, we called 1,393 high quality single nucleotide variants, 55% of which are rare, and 143 indels. Using single marker tests and collapsed marker tests, we identified four intervals associated with BMI: the FAAH promoter, the MGLL promoter, MGLL intron 2, and MGLL intron 3. Two of these intervals are composed of rare variants and the majority of the associated variants are located in promoter sequences or in predicted transcriptional enhancers, suggesting a regulatory role. The set of rare variants in the FAAH promoter associated with BMI is also associated with increased level of FAAH substrate anandamide, further implicating a functional role in obesity. Our study, which is one of the first reports of a sequence-based association study using next-generation sequencing of candidate genes, provides insights into study design and analysis approaches and demonstrates the importance of examining regulatory elements rather than exclusively focusing on exon sequences. © 2010 Harismendy et al.; licensee BioMed Central Ltd.

  18. Lipschütz ulcer in a 17-month-old girl: a rare manifestation of Epstein-Barr primoinfection.

    Science.gov (United States)

    Burguete Archel, Edurne; Ruiz Goikoetxea, Maite; Recari Elizalde, Eva; Beristain Rementería, Xabier; Gómez Gómez, Lourdes; Iceta Lizarraga, Ainhoa

    2013-08-01

    Lipschütz ulcer is an uncommon entity that is clinically characterised by a flu-like syndrome accompanied by an acute painful necrotic vulvar ulcer. It typically occurs in young women with no sexual contact history, and it is very rare among children. The aetiology is unknown, although recently several reports have related Epstein-Barr virus primary infection with this entity. We report a 17-month-old girl with fever and an acute genital ulcer. All the complementary tests for the most frequent causes of vulvar ulcers yielded negative results, whereas viral serology and polymerase chain reaction technique confirmed the presence of an acute Epstein-Barr virus infection. When main causes of genital ulcer have been excluded, and there is no history of sexual contact, Lipschütz ulcer should be included in the differential diagnosis. Detection of Epstein-Barr virus genome by polymerase chain reaction can lead to an earlier diagnosis.

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

    Directory of Open Access Journals (Sweden)

    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.

  20. Extremely Rare Form of Impaction Bilateral Kissing Molars: Report of a Case and Review of the Literature.

    Science.gov (United States)

    Zerener, Tamer; Bayar, Gurkan Rasit; Altug, Hasan Ayberk; Kiran, Serkan

    2016-01-01

    Kissing molars (KM) or rosette formation is a term that is used to describe impacted teeth contacting occlusal surfaces in a single follicular space and their roots pointing in opposite directions. In some cases kissing molars can be seen but occurrence of bilateral kissing molars is extremely rare phenomenon in the dental literature and the aetiology of this phenomenon is still unknown. In this paper we describe a case and review of the literature and discuss the management of this pathology. In our case, extremely rare form of impacted bilateral kissing molars was extracted surgically. The decision of extraction of asymptomatic kissing molars represents surgical dilemma. There may be many surgical complications; on the other hand in some cases surgical intervention is unavoidable. Few treatment options were described in the literature. This phenomenon can be sign of various medical conditions that may require further investigation. In this paper, our treatment option is in agreement with the literature suggesting the surgical removal of both teeth at either side of the mandible.

  1. Two Rare Magnetic Cataclysmic Variables with Extreme Cyclotron Features Identified in the Sloan Digital Sky Survey

    CERN Document Server

    Szkody, P; Schmidt, G; Hall, P B; Margon, B; Miceli, A; Subba-Rao, M; Frith, W J; Harris, H; Szkody, Paula; Anderson, Scott F.; Schmidt, Gary; Hall, Patrick B.; Margon, Bruce; Miceli, Antonino; Rao, Mark Subba; Frith, James; Harris, Hugh

    2003-01-01

    Two newly identified magnetic cataclysmic variables discovered in the Sloan Digital Sky Survey (SDSS), SDSSJ155331.12+551614.5 and SDSSJ132411.57+032050.5, have spectra showing highly prominent, narrow, strongly polarized cyclotron humps with amplitudes that vary on orbital periods of 4.39 and 2.6 hrs, respectively. In the former, the spacing of the humps indicates the 3rd and 4th harmonics in a magnetic field of ~60 MG. The narrowness of the cyclotron features and the lack of strong emission lines imply very low temperature plasmas and very low accretion rates, so that the accreting area is heated by particle collisions rather than accretion shocks. The detection of rare systems like these exemplifies the ability of the SDSS to find the lowest accretion rate close binaries.

  2. Single coronary artery; extremely rare coronary anomaly successfully treated surgically in young adult male.

    LENUS (Irish Health Repository)

    Shah, A R

    2010-05-01

    Single coronary artery arising from aortic root, is a rare congenital anomaly. A 30-year-old male presented with acute myocardial infarction (MI) complaining of chest pain and raised troponin levels. Emergency angiography showed no coronary lesions but both left and right coronary arteries arising from single ostium. Patient was operated electively and perioperative findings confirmed the diagnosis of single coronary artery, as left coronary artery after taking origin from right sinus of valsalva runs through the septum, before dividing into left anterior descending and circumflex branches. The single coronary ostium opened with a slit like incision over the course of left main coronary, making the size of ostium three to four times bigger than the native one. In addition left internal mammary artery was harvested and grafted to the left anterior descending branch distally. Patient made successful recovery. Four months follow up dobutamine stress echo showed no inducible ischemia.

  3. Eosinophilia as the presenting sign in pancreatic cancer: an extremely rare occurrence.

    Science.gov (United States)

    Ibrahim, Uroosa; Asti, Divya; Saqib, Amina; Mudduluru, Bindu Madhavi; Ayaz, Sadaf; Odaimi, Marcel

    2017-04-01

    A case of pancreatic adenocarcinoma diagnosed following work up for eosinophilia is reported. A 68-year-old female was referred to our Hematology clinic for an absolute eosinophil count of 1869 per microliter. No allergic signs or symptoms were reported. Laboratory studies for parasitic infestations autoimmune disease and collagen vascular disease were negative. Computed tomography of the abdomen revealed a mass in the neck of the pancreas with fine needle aspiration biopsy consistent with adenocarcinoma. The patient received one cycle of modified FOLFIRINOX with complete resolution of the eosinophilia. There are rare case reports of tumor-associated blood eosinophilia in solid malignancies. The finding may be indicative of rapid disease progression and poor prognosis. Our case is the third in published English literature with eosinophilia being the initial finding in pancreatic cancer.

  4. Urothelial carcinoma with oncocytic features: an extremely rare case presenting a diagnostic challenge in urine cytology.

    Science.gov (United States)

    Tajima, Shogo

    2015-01-01

    Recognizing histological variants in urothelial carcinoma (UC) is important because some may be associated with different clinical outcomes and/or therapeutic approaches; being aware of unusual histological variants may also be crucial in preventing diagnostic misinterpretations. Histological variants based on cytoplasmic features, such as clear-cell, plasmacytoid, rhabdoid, and lipoid-rich variants, are described in invasive UC; however, these cytoplasmic features are not formally defined and not usually encountered in non-invasive UC. Oncocytic cytoplasm has not been well described in either invasive or non-invasive UC. Herein, we report an exceedingly rare case of UC with oncocytic features arising in the right renal pelvis, which presented a diagnostic challenge in urine cytology due to the relatively low nuclear-to-cytoplasmic ratio; however, it could definitively be diagnosed using histological specimens. UC diagnosis is based on the presence of papillary architecture and widespread p53 nuclear accumulation, suggesting malignancy. An oncocytic tumor is generally considered to be not actively dividing, as shown by the low Ki-67 labeling index in this case. In spite of the low proliferative activity, the possibility of intravesicle recurrence (IVR) should be considered since positive preoperative cytology of upper tract UC is a risk factor for IVR after nephroureterectomy.

  5. A extremely rare case of cervical intramedullary granuloma due to Brucella accompanied by Chiari Type-1 malformation.

    Science.gov (United States)

    Tufan, Kadir; Aydemir, Fatih; Sarica, Feyzi Birol; Kursun, Ebru; Kardes, Özgür; Cekinmez, Melih; Caner, Hakan

    2014-01-01

    Chiari Type-1 malformation is displacement of the cerebellar tonsils through the foramen magnum into the cervical spine and usually does not exceed the level of C2. It is 50-70% associated with syringomyelia. Nervous system involvement due to brucellosis is called neurobrucellosis, and neurological involvement rate has been reported an average of 3-5%, ranging between 3% and 25% at different series. Intramedullary abscess or granuloma due to Brucella is extremely rare. Hence far, six cases have been reported in the literature and only two of these cases were reported as intramedullary granuloma. This case is presented in order to remind the importance of the cervical cord granuloma which was presented once before in the literature and to emphasize the importance of evaluation of patient history, clinical and radiological findings together in the evaluation of a patient.

  6. Gallstone ileus of the sigmoid colon: an extremely rare cause of large bowel obstruction detected by multiplanar CT.

    Science.gov (United States)

    Carlsson, Tarryn; Gandhi, Sanjay

    2015-12-18

    Gallstone ileus of the sigmoid colon is an important, though extremely rare, cause of large bowel obstruction. The gallstone often enters the large bowel through a fistula formation between the gallbladder and colon, and impacts at a point of narrowing, causing large bowel obstruction. We describe the case of an 80-year-old woman who presented with features of bowel obstruction. Multiplanar abdominal CT demonstrated a cholecystocolonic fistula in exquisite detail. The scan also showed obstruction of the colon due to a large gallstone impacted just proximal to a stricture in the sigmoid. Owing to inflammatory adhesions and a stricture from extensive diverticular disease, the gallstone could not be retrieved. This frail and elderly woman was treated with a loop colostomy to relieve bowel obstruction. The patient made an uneventful recovery.

  7. Violence is Rare in Autism: When It Does Occur, Is It Sometimes Extreme?

    Science.gov (United States)

    Allely, C S; Wilson, P; Minnis, H; Thompson, L; Yaksic, E; Gillberg, C

    2017-01-02

    A small body of literature has suggested that, rather than being more likely to engage in offending or violent behavior, individuals with autism spectrum disorder (ASD) may actually have an increased risk of being the victim rather than the perpetrator of violence (Sobsey, Wells, Lucardie, & Mansell, 1995 ). There is no evidence that people with ASD are more violent than those without ASD (Im, 2016). There is nevertheless a small subgroup of individuals with ASD who exhibit violent offending behaviours and our previous work has suggested that other factors, such as adverse childhood experiences, might be important in this subgroup (Allely, Minnis, Thompson, Wilson, & Gillberg, 2014 ). Fitzgerald ( 2015 ) highlights that school shootings and mass killings are not uncommonly carried out by individuals with neurodevelopmental disorders, with frequent evidence of warning indicators. The aim of the present review is to investigate this in more detail using the 73 mass shooting events identified by Mother Jones (motherjones.com) in their database for potential ASD features. There are 73 mass shooting events but there are two events where there is a pair of shooters which meant that 75 mass shooter cases were investigated. This exercise tentatively suggests evidence of ASD in six of 75 included cases (8%) which is about eight times higher when compared to the prevalence of ASD found in the general population worldwide (motherjones.com). The 8% figure for individuals with ASD involved mass killings is a conservative estimate. In addition to the six cases which provide the 8% figure, there were 16 other cases with some indication of ASD. Crucially, ASD may influence, but does not cause, an individual to commit extreme violent acts such as a mass shooting episode.

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

    Science.gov (United States)

    Nadrowski, Karin; Pietsch, Katherina; Baruffol, Martin; Both, Sabine; Gutknecht, Jessica; Bruelheide, Helge; Heklau, Heike; Kahl, Anja; Kahl, Tiemo; Niklaus, Pascal; Kröber, Wenzel; Liu, Xiaojuan; Mi, Xiangcheng; Michalski, Stefan; von Oheimb, Goddert; Purschke, Oliver; Schmid, Bernhard; Fang, Teng; Welk, Erik; Wirth, Christian

    2014-01-01

    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.

  9. Neurological manifestation of colonic adenocarcinoma

    Directory of Open Access Journals (Sweden)

    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.

  10. Isolated mandibular condylar metastases: An uncommon manifestation of recurrent cervical cancer

    Directory of Open Access Journals (Sweden)

    Ameya D Puranik

    2013-01-01

    Full Text Available Bone metastases from recurrent cervical cancer is a rare scenario, with commonly involved sites being lumbar spine and pelvic bones report an extremely rare manifestation of cervical cancer recurrence presenting as a painful jaw swelling due to metastasis to the mandibular condyle.

  11. PARANEOPLASTIC MANIFESTATIONS IN CHILDREN

    NARCIS (Netherlands)

    DEGRAAF, JH; TAMMINGA, RYJ; KAMPS, WA

    1994-01-01

    Paraneoplastic manifestations are signs and symptoms observed in patients with cancer, distant from the tumour or its metastases and not caused by invasion, obstruction or bulk mass. In children with cancer, paraneoplastic manifestations are rare and distinct from those observed in adults. Knowledge

  12. Identification of a Novel NLRP12 Nonsense Mutation (Trp408X in the Extremely Rare Disease FCAS by Exome Sequencing.

    Directory of Open Access Journals (Sweden)

    Xiaoru Xia

    Full Text Available Familial cold autoinflammatory syndrome (FCAS is an extremely rare autosomal dominant inherited disease. Although there are four genes that have been linked with FCAS, its molecular diagnosis has been challenging in a relatively large proportion of cases. In this study, we aimed to investigate the genetic defect of a recruited FCAS family using exome sequencing followed by in-depth bioinformatics analysis. As a result, a novel heterozygous stop-gain mutation (Trp408X in NLRP12 was identified in autosomal dominant inherited FCAS with clinical features of recurrent fever and skin urticaria due to cold conditions. When combined with previous studies, all of the reported mutations were found to have occurred in a highly conserved region in the NACHT domain coding sequence in NLRP12 exon 3, suggesting that a screening strategy for FCAS should focus on this area of the gene. In conclusion, this study demonstrates the importance of exome sequencing for clinical diagnosis of genetic disorders and provides molecular insight into FCAS treatment and diagnosis.

  13. Ultrasonographic manifestations of rare renal inflammatory mass%肾脏罕见炎性肿块患者超声表现

    Institute of Scientific and Technical Information of China (English)

    黄思; 肖萤

    2012-01-01

    Objective To analyze the ultrasonographic manifestations of inflammatory mass in the rare diseases of xanthogranulomatous pyelonephritis and renal inflammatory pseudotumor. Methods Four patients with asxanthogranulomatous pyelonephritis and 2 with renal inflammatory pseudotumor underwent ultrasonography in our hospital between 2004 and 2011. The clinical data and ultrasound features were retrospectively reviewed,including mass size, shape, boundary, echogenecity and internal blood supply. All the results were confirmed by pathology. Renal transparent cell carcinoma was also identified in one case by pathology. Results According to ultrasonography, the mass of xanthogranulomatous pyelonephritis and renal inflammatory pseudotumor were mostly irregular in shape, with clear or fuzzy boundaries, predominantly hypo-, equal- or hyper-echoic masses. Some mass had hyperecho clumps with acoustic shadow. Color Doppler imaging showed a hypervascularized mass. No liquid or necrosis were found in them. Two lesions were diagnosed as benign, 1 was malignant, and 2 cases were uncertain. One cases was misdiagnosed as renal tuberculosis or renal teratoma. Conclusions The rare renal inflammatory mass presents some common, but not specific ultrasound features. Ultrasound is helpful for the differential diagnosis of renal inflammatory mass.%目的 总结肾脏罕见的黄色肉芽肿性肾盂肾炎(XGP)及肾脏炎性假瘤(RIP)患者肾脏炎性肿块的超声表现.方法 回顾性分析2004-2011年我院收治的4例XGP及2例RIP患者的超声声像图特征,包括肿块大小、肿块形态、边界、回声强弱及局限性回声改变、内部血流等情况.6例肾脏罕见炎性肿块患者均经术后病理证实,且1例患者合并肾早期透明细胞癌.结果 6例肾脏罕见炎性肿块超声声像图多表现为形态不规则、边界清或不清、内部以低回声为主或中等回声为主或强回声为主,肿块伴有强回声团伴声影,部分肿块内血流

  14. Novel Cutaneous Manifestations of Pleuroparenchymal Fibroelastosis.

    Science.gov (United States)

    Lowther, Christopher M; Morrison, Annie O; Candelario, Nicole M; Khalafbeigi, Sheva; Cockerell, Clay J

    2016-10-01

    Pleuroparenchymal fibroelastosis (PPFE) is a rare progressive disease that manifests as parenchymal fibrosis of the upper lobe and pleura. Approximately 100 cases have been reported. Cutaneous manifestations of PPFE have not previously been described. Diagnosis is dependent on histologic identification of fibrosis with atypical elastic fibers, necessitating an invasive peripheral lung wedge biopsy.A 68-year-old male with a history of pleuroparenchymal fibroelastosis presented with an asymptomatic, telangiectatic erythematous eruption on bilateral lower extremities. Biopsies demonstrated a subtle perivascular infiltrate with marked increase in atypical elastic fibers, similar to the elastosis in the patient's lungs.This is the first documented case of cutaneous manifestations in PPFE. Clinicians need to be aware that cutaneous eruptions clinically simulating telangiectasia macularis eruptiva perstans but lacking a mast cell infiltrate histologically, may have increased abnormal elastic fibers. Thus, early recognition of these lesions in patients with an undefined restrictive lung disorder, may facilitate the diagnosis of PPFE in some patients.

  15. Macrodystrophia lipomatosa: a rare presentation

    Directory of Open Access Journals (Sweden)

    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.

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

    Directory of Open Access Journals (Sweden)

    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.

  17. Mandelbrot's Extremism

    NARCIS (Netherlands)

    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

  18. Synchronous papillary urothelial carcinoma of urinary bladder and adenocarcinoma of stomach in a middle-aged man: An extremely rare association with therapeutic dilemma

    Directory of Open Access Journals (Sweden)

    Dodul Mondal

    2013-01-01

    Full Text Available Synchronous occurrence of urinary bladder carcinoma and gastric carcinoma is very rare. A middle-aged Asian man presented with complaints of hematuria which was diagnosed due to muscle invasive papillary urothelial carcinoma of urinary bladder. Metastatic work-up revealed simultaneous presence of locally advanced gastric adenocarcinoma. He was treated with TURBT for the bladder cancer and was planned for radical gastric resection followed by radiation to urinary bladder and stomach with concurrent chemotherapy. However, due to very advanced nature of the gastric tumor patient was treated only with palliative gastric resection followed by palliative radiation to both urinary bladder and stomach due to his poor performance status. Lack of published English literature and evidence related to such clinical entity made this an extremely rare clinical entity and treatment decision difficult.

  19. Osteoskeletal manifestations of scurvy: MRI and ultrasound findings

    Energy Technology Data Exchange (ETDEWEB)

    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.)

  20. A Rare Case of Aggressive Digital Adenocarcinoma of the Lower Extremity, Masquerading as an Ulcerative Lesion that Clinically Favored Benignancy

    Directory of Open Access Journals (Sweden)

    Ryan Vazales

    2014-08-01

    Full Text Available A rare case report of Aggressive Digital Adenocarcinoma (ADPCa is presented complete with a literature review encompassing lesions that pose potential diagnostic challenges. Similarities between basal cell carcinoma (BCC, marjolin’s ulceration/squamous cell carcinoma (MSCC and ADPCa are discussed. This article discusses potential treatment options for ADPCa and the need for early biopsy when faced with any challenging lesion. An algorithmic approach to ADPCa treatment based on the most current research is recommended.

  1. Non-thrombocytopenic purpura in familial Mediterranean fever-comorbidity with Henoch-Schönlein purpura or an additional rare manifestation of familial Mediterranean fever?

    Science.gov (United States)

    Ben-Chetrit, Eldad; Yazici, Hasan

    2016-07-01

    Henoch-Schönlein purpura is a relatively common vasculitis mainly affecting children. It is characterized by purpuric skin rash, abdominal cramping, and haematuria. Skin biopsies taken from Henoch-Schönlein purpura lesions disclose perivascular IgA deposits. FMF is an autoinflammatory disease characterized by recurrent attacks of fever lasting 2-3 days which resolve spontaneously. Typical manifestations of the disease are peritonitis, pleuritis, pericarditis, arthritis and erysipelas-like erythema usually affecting the lower limbs. Over the years many reviews emphasized the clinical impression that Henoch-Schönlein purpura is more common among FMF patients than in healthy control population. In this review we summarize these reports and show that sometimes Henoch-Schönlein purpura associated with FMF differs from typical isolated Henoch-Schönlein purpura, and this is also the case with polyarteritis nodosa and SpA associated with FMF. It is suggested that these clinical manifestations (polyarteritis nodosa, Henoch-Schönlein purpura and SpA) should be considered to be associated with FMF as part of what we call FMF rather than as co-existing additional separate clinical entities. © The Author 2015. Published by Oxford University Press on behalf of the British Society for Rheumatology. All rights reserved. For Permissions, please email: journals.permissions@oup.com.

  2. Erythema elevatum diutinum på glans penis er en sjælden manifestation

    DEFF Research Database (Denmark)

    Harbjerg, Julie Lykke; Krarup, Kim Predbjørn

    2014-01-01

    Erythema elevatum diutinum (EED) is a rare chronic cutaneous vasculitis, which typically manifests as symmetrical, chronic plaques or nodules on the extensor sides of the extremities, on truncus or nates. We present a case where EED-compatible plaques were located on glans penis. To our knowledge...

  3. Achondroplasia: manifestations and treatment.

    Science.gov (United States)

    Shirley, Eric D; Ain, Michael C

    2009-04-01

    Achondroplasia, the most common skeletal dysplasia, is caused by a mutation of fibroblast growth factor receptor-3. This disorder is characterized by frontal bossing, midface hypoplasia, otolaryngeal system dysfunction, and rhizomelic short stature. Orthopaedic manifestations are exhibited in the spine and the extremities. In the infant with achondroplasia, foramen magnum stenosis may result in brainstem compression with apnea and sudden death. Thoracolumbar kyphosis is seen in most infants, but typically it resolves when the child begins to walk. Anatomic anomalies of the vertebral column place the patient at risk for spinal stenosis as early as the first decade and especially during adulthood. Radial head dislocation is one manifestation in the upper extremity. Lower extremity alignment often is characterized by genu varum, which may require correction osteotomy. Medical and surgical options are available to increase patient height, but indications are controversial, and treatment often consumes a large portion of the child's life.

  4. A rare form of extremely wide QRS complex due to reversed homologous electrical ventricular separation of acute heart failure.

    Science.gov (United States)

    Yan, Sujuan; Yu, Jianhua; Xia, Zhen; Zhu, Bo; Hu, Jinzhu; Li, Juxiang

    2017-06-29

    Electrical ventricular separation, as a special complete intraventricular block, denotes that ventricles be electrically separated into two or more parts caused by severe and wide damage of myocardium and conduction. Electrical ventricular separation can be divided into homologous and heterologous, homologous electrical ventricular separation is a rare phenomenon, literally the excitement of whole ventricle originate from supraventricle, on ECG, there are two different QRS waves which connect with an isoelectric line, one ST segment and T wave. We report a valve heart disease presented with complicated electrophysiological characteristics, which has reversed complex homologous electrical ventricular separation with second degree intraventricular block. © 2017 Wiley Periodicals, Inc.

  5. Extreme chemical conditions of crystallisation of Umbrian Melilitolites and wealth of rare, late stage/hydrothermal minerals

    Science.gov (United States)

    Stoppa, F.; Schiazza, M.

    2014-12-01

    Melilitolites of the Umbria Latium Ultra-alkaline District display a complete crystallisation sequence of peculiar, late-stage mineral phases and hydrothermal/cement minerals, analogous to fractionated mineral associations from the Kola Peninsula. This paper summarises 20 years of research which has resulted in the identification of a large number of mineral species, some very rare or completely new and some not yet classified. The progressive increasing alkalinity of the residual liquid allowed the formation of Zr-Ti phases and further delhayelitemacdonaldite mineral crystallisation in the groundmass. The presence of leucite and kalsilite in the igneous assemblage is unusual and gives a kamafugitic nature to the rocks. Passage to non-igneous temperatures (T<600 °C) is marked by the metastable reaction and formation of a rare and complex zeolite association (T<300 °C). Circulation of low-temperature (T<100 °C) K-Ca-Ba-CO2-SO2-fluids led to the precipitation of sulphates and hydrated and/or hydroxylated silicate-sulphate-carbonates. As a whole, this mineral assemblage can be considered typical of ultra-alkaline carbonatitic rocks.

  6. [Spinal cord compression as a primary manifestation of occult thyroid carcinoma].

    Science.gov (United States)

    Vicente, P; Rovirosa, A; Gallego, O; Albanell, J; Bellmunt, J; Solé, L A

    1992-07-01

    Metastatic disease is the first clinical manifestation of differentiated thyroid carcinoma (DTC) in less than 5% of cases. Bone metastases as the first sign of DTC are associated with a poor prognosis, both for being resistant to treatment and for complications due to them. Spinal cord compression is a rare development in DTC, which may present late in the course of the disease. An initial presentation of DTC with a spinal cord compression is an extremely rare condition.

  7. Unusual florid skeletal manifestations of primary hyperparathyroidism

    Energy Technology Data Exchange (ETDEWEB)

    Ashebu, Samuel D.; Dahniya, Mohamed H.; Muhtaseb, Sayeed A.; Aduh, Prosper [Department of Radiology, Al-Adan Hospital (Kuwait)

    2002-12-01

    We report a case of primary hyperparathyroidism (PHPT) with advanced and unusual skeletal manifestations - a rare occurrence in developed countries nowadays. The literature is briefly reviewed. (orig.)

  8. Lhermitte-Duclos disease associated to Cowden syndrome: de novo diagnosis and management of these extremely rare syndromes in a patient.

    Science.gov (United States)

    Gama, Ivo; Almeida, Leonor

    2017-01-30

    A 36-year-old woman, with history of cutaneous papilomatosis and thyroid carcinoma presented with headache, transitory visual blurring and nausea. Funduscopy showed papilloedema. MRI showed a tumour of the right cerebellar hemisphere with a striated, tigroid pattern, typical of Lhermitte-Duclos disease (LDD). Significant clinical and perimetric improvements were noted after surgery and the follow-up did not reveal recurrences of the tumour. LDD is an extremely rare differential diagnosis of posterior fossa tumours. LDD and the history of thyroid carcinoma permitted us to diagnose Cowden syndrome (CS). We present a clinical case that supports the possibility of performing a preoperative diagnosis of LDD based on MRI features. We review the diagnosis and management of LDD and CS. This report highlights the importance of excluding CS after LDD diagnosis, of monitoring the optic nerve postoperatively using optical coherence tomography and of prompt treatment that can potentially prevent visual function loss.

  9. [Unusual Migraine Manifestations].

    Science.gov (United States)

    Schipper, Sivan; Gantenbein, Andreas R; Sandor, Peter S

    2016-06-01

    Migraine is a complex neurologic disorder by which several systems of the central nervous system (autonomous system, affective, cognitive, sensoric and motoric system) may be affected on different levels. Around a fourth of the patients have migraine aura. The most common aura is the visual aura, followed by sensoric aura. But motoric deficits as well as deficits of higher cortical centers (disorders of thinking, orientation, coherence or concentration) may occur as well. In analogy with a headache calendar, an aura calendar can deliver important help in the diagnostic process of rare migraine manifestations and prevent underdiagnosis of unusual migraine manifestations. Complex migraine manifestations are diagnoses of exlusion, and a broad diagnostic work-up is warranted in order to exclude dangerous neurologic pathologies. There are no specific therapeutic recommendations, as there is a lack of randomized controlled studies.

  10. Metastases of pancreatic neuroendocrine tumor to the liver as extremely rare indication for liver transplantation in children. Case report and review of the literature.

    Science.gov (United States)

    Ismail, Hor; Broniszczak, Dorota; Markiewicz-Kijewska, Małgorzata; Ciopiński, Mateusz; Teisseyre, Joanna; Kluge, Przemysław; Dembowska-Bagińska, Bożenna; Kościesza, Andrzej; Socha, Piotr; Kaliciński, Piotr

    2016-09-01

    Neuroendocrine tumors (NET) are extremely rare in children (0.75 cases per 100,000 children and adolescents a year) and the majority of these tumors are benign or present low grade of malignancy. According to the American registry Surveillance, Epidemiology, and End Results (SEER) Program of the National Cancer Institute, less than 2% of all neuroendocrine tumors in children occur in the pancreas, making it a rare site for these tumors. The majority of them are found in children over 10years of age, especially those with malignant potential. Treatment of NET consists of different methods: surgery, somatostatin analogues and chemotherapy. Radical surgical resection remains the standard of treatment; however, it is not always feasible because of distant metastases. The authors present a case report of pancreatic NET with multiple metastases to the liver. The patient was treated with pancreatic resection and liver transplantation for liver metastases. Prior to liver transplantation, the patient was treated with somatostatin analogues, sunitinib and chemotherapy. Management of liver metastases with liver transplantation is discussed.

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

    Directory of Open Access Journals (Sweden)

    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.

  12. Nail manifestations in pemphigus vulgaris

    Directory of Open Access Journals (Sweden)

    Cahali Juliana Burihan

    2002-01-01

    Full Text Available Nail involvement in pemphigus vulgaris is rare. We describe 5 patients with pemphigus vulgaris presenting nail involvement. In this disease, nail manifestations present, by order of frequency, as chronic paronychia, onychomadesis, onycholysis, Beau's lines and trachyonychia. All our 5 cases presented with paronychia, and 1 of them also had Beau's lines. Treatment with prednisone and/or cyclophosphamide controlled mucocutaneous and nail manifestations in all cases.

  13. Tuberculous dacryoadenitis: A rare manifestation of tuberculosis

    NARCIS (Netherlands)

    van Assen, S.; Lutterman, J.A.

    2002-01-01

    A 41-year-old Somalian female inhabitant of the Netherlands presented with malaise and cervical lymph node swelling. Enlarged mediastinal, hilar and abdominal lymph nodes were found on CT scan. Subsequently the left lacrimal gland became swollen, accompanied by periostitis of the lateral orbit margi

  14. Extreme light rare earth element mobilization by diagenetic fluids in the geological environment of the Oklo natural reactor zones, Franceville basin, Gabon

    Science.gov (United States)

    Cuney, Michel; Mathieu, Régis

    2000-08-01

    The anomalously high Th/La ratio (˜1.14) of the Early Proterozoic silicified sandstones of the Franceville basin (Gabon), compared to Archean and Proterozoic metasedimentary rocks (Th/La ˜0.27), results from extreme light rare earth element (REE) migration during diagenesis. Monazite, which represents the main light REE-bearing phase in the sandstones, was altered by diagenetic brines at 140 °C and 1 kbar. The alteration phase is a microcrystalline Th-silicate phase, indicating low Th solubility at these conditions. Light REEs are simultaneously leached out together with P and U. The increase in Th/La from detrital monazite to residual Th-silicate phase indicates that about 76% of the light REEs were leached out, corresponding to a global amount of 2.01 × 109 metric tons at the scale of the FA Formation in the Franceville basin. Uranium was also leached during monazite alteration and may have contributed significantly to the genesis of the high-grade uranium deposits of the Franceville basin that host the natural nuclear reaction zones.

  15. An Interesting and Rare Case of Dextrocardia: Asymptomatic Left Atrial Aneurysm in an Adult.

    Directory of Open Access Journals (Sweden)

    Sravan Reddy

    2015-08-01

    Full Text Available Asymptomatic congenital intrapericardial aneurysm are extremely rare. This anomaly is usually present in second to fourth decade of life. They are usually associated with arrhythmias, embolic manifestations and heart failure. Here we present a case of LA aneurysm manifested asymptomatically. We present a 37 year old male referred to our department for pre-operative evaluation. He was diagnosed to have dextrocardia, the evaluation of which led to the diagnosis of congenital left atrial aneurysm as the cause.

  16. Cholestatic Jaundice as a Paraneoplastic Manifestation of Prostate Cancer

    Directory of Open Access Journals (Sweden)

    Tomomi Kuramoto

    2013-01-01

    Full Text Available Paraneoplastic syndrome associated with prostate cancer is extremely rare. We report a patient who presented with cholestatic jaundice without biliary duct obstruction, hepatic involvement, or infection. After a few detailed examinations, prostate cancer was diagnosed. After treatment with bicalutamide and leuprolide, the patient’s symptoms and laboratory abnormalities were reversed. Cholestatic jaundice was regarded as a paraneoplastic manifestation in this patient. The patient remains symptom-free after 14-month followup. Paraneoplastic syndrome should be considered in case of cholestatic jaundice without biliary duct obstruction, hepatic involvement, or infection.

  17. Neurofibromatosis 1 vasculopathy manifesting as a peripheral aneurysm in an adolescent

    Energy Technology Data Exchange (ETDEWEB)

    Farmakis, Shannon G.; Khanna, Geetika [Washington University School of Medicine, Mallinckrodt Institute of Radiology, St. Louis, MO (United States); Han, Min; White, Frances [Washington University School of Medicine, Department of Pathology and Immunology, St. Louis, MO (United States)

    2014-10-15

    Arterial vasculopathy is a well-recognized but uncommon manifestation of neurofibromatosis type 1 (NF-1). It can manifest as stenoses, aneurysms or arteriovenous malformations. NF-1 vasculopathy typically involves the aorta, visceral arteries or carotid-vertebral circulation. Aortic and visceral vasculopathy typically presents as stenotic lesions, while aneurysms have been reported primarily in the subclavian/vertebral arteries. Aneurysms of the peripheral/extremity arteries are an extremely rare complication of NF-1 that may present as a mass or spontaneous rupture. We present the case of a teenage boy with an arm mass secondary to an aneurysm. We hope this case will increase recognition of the variable clinical manifestations of NF-1 vasculopathy among radiologists. (orig.)

  18. Stroke of the substance nigra and parkinsonism as first manifestation of systemic lupus erythematosus.

    Science.gov (United States)

    Orta Daniel, San-Juan; Ulises, Rodríguez-Ortiz

    2008-01-01

    The authors report one case of parkinsonism associated with systemic lupus erythematosus (SLE): a 45-year-old woman, who presented with a strategic infarct of the right substance nigra secondary to vasculitis, and contralateral symptoms. Other causes of parkinsonism were excluded. She had a partial response to therapy with levodopa. Parkinsonism as the first manifestation of lupus is extremely rare. This is the first reported case with strategic infarction in the substance nigra secondary to vasculitis in a patient with SLE.

  19. Occult male breast cancer with axillary metastasis: A rare case report

    Directory of Open Access Journals (Sweden)

    Komal Sawaimul

    2015-01-01

    Full Text Available Breast cancer is very rare in men. It accounts for 0.2% of all cancers and 1% of all breast cancers. The occurrence of occult breast cancer that present as axillary metastasis as the first manifestation is even rarer in men. We are hereby presenting an extremely rare case of a septuagenarian male patient who presented with occult breast cancer and axillary lymph node metastasis.

  20. Acardiac Twin Presented as a Lower Extremity:Case Report with Serial Prenatal Ultrasonography

    Energy Technology Data Exchange (ETDEWEB)

    Yi, Boem Ha; Park, Seong Jin; Lee, Hae Kyung; Hong, Hyeon Sook; Lee, Kwon Hae; Kim, Tae Hee [Soonchunhyang University Bucheon Hospital, Bucheon (Korea, Republic of)

    2010-03-15

    An acardiac twin is one of the very rare anomalies that occurs in monochorionic twins and the incidence of this is about one out of 35,000 births. We present the serial prenatal ultrasound findings, along with the postnatal histologic correlation, of an acardiac twin that manifested as a single lower extremity

  1. Panniculitis: an unusual presenting manifestation of rheumatoid arthritis.

    Science.gov (United States)

    Fragoulis, George E; Stamopoulos, Paraskevas; Barbatis, Calypso; Tzioufas, Athanasios G

    2016-01-01

    Rheumatoid arthritis (RA) is a systemic inflammatory disease affecting primarily the joints but also other organs including skin. Panniculitis is an extremely rare manifestation of the disease manifesting mainly as reddish, ulcerative painful nodules and papules, usually in the legs. Histopathologically, it is characterised by liponecrobiosis, granulocytic and histiocytic infiltrates and vasculopathy. Herein, we describe a middle-aged woman with past medical history of hypertension and diabetes mellitus, and unremarkable family history, who presented with symmetrical polyarthritis, low grade fever and painful subcutaneous nodules in the abdomen. Her laboratory tests showed high acute phase reactants, positive rheumatoid factor and anti-Ro autoantibodies and negative anti-CCP. Surgical resection and histological examination of the nodules revealed neutrophilic lobular panniculitis associated with RA. She was treated with low doses of glucocorticosteroids and methotrexate. The latter was substituted with leflunomide due to toxicity. The patient had significant clinical and laboratory improvement.

  2. Ocular manifestations in the Hutchinson-Gilford progeria syndrome.

    Science.gov (United States)

    Chandravanshi, Shivcharan L; Rawat, Ashok Kumar; Dwivedi, Prem Chand; Choudhary, Pankaj

    2011-01-01

    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.

  3. Ocular manifestations in the Hutchinson-Gilford progeria syndrome

    Science.gov (United States)

    Chandravanshi, Shivcharan L; Rawat, Ashok Kumar; Dwivedi, Prem Chand; Choudhary, Pankaj

    2011-01-01

    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. PMID:22011502

  4. Ocular manifestations in the Hutchinson-Gilford progeria syndrome

    Directory of Open Access Journals (Sweden)

    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.

  5. A rare cause of rapidly progressive Fournier's Gangrene: Staphylococcus lugdunensis

    Directory of Open Access Journals (Sweden)

    Serkan Akan, Ahmet Urkmez, Ozgur Haki Yuksel

    2016-09-01

    Full Text Available Fournier’s gangrene is a polymicrobial infection of perineal and scrotal regions that manifests as a rapidly progressive necrotizing fasciitis. Because of the importance of targeted antibiotic therapy, awareness of the spectrum of microbes that might be associated with lesion is imperative. Here we report an extremely rare but rapidly progressive case of necrotizing fasciitis associated with the Staphylococcus lungdunensis. J Microbiol Infect Dis 2016; 6(3: 132-135

  6. Microscopic haematuria: A rare presentation of typhoid fever.

    Science.gov (United States)

    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.

  7. Bilateral giant open-lip schizencephaly: A rare case report

    Directory of Open Access Journals (Sweden)

    Shrikant V Rege

    2016-01-01

    Full Text Available Schizencephaly is an extremely rare developmental birth defect characterized by abnormal slits or clefts in the cerebral hemispheres extending from the lateral ventricle to the cerebral cortex. The margins of the cleft are lined with heterotropic, dysplastic gray matter. The causes of schizencephaly are heterogeneous and include teratogens, prenatal infarction/infections, maternal trauma, or EMX2 mutations. This condition is present at birth and manifests early in life.

  8. A rare case of multiple myeloma initially presenting with pseudoachalasia.

    Science.gov (United States)

    Lazaraki, Georgia; Nakos, Andreas; Katodritou, Eirini; Pilpilidis, Ioannis; Tarpagos, Anestis; Katsos, Ioannis

    2009-01-01

    Pseudoachalasia is a rare clinical entity with clinical, radiographic, and manometric features often indistinguishable from achalasia. Primary adenocarcinomas arising at the gastroesophageal junction or a tumor of the distal esophagus are the most frequent causes of pseudoachalasia. Rarely, processes other than esophagogastric cancers including chronic idiopathic intestinal pseudo-obstruction, amyloidosis, sarcoidosis, Chagas' disease, vagotomy, antireflux surgery, pancreatic pseudocysts, von Recklinghausen's neuroinomatosis, gastrointestinal stromal tumor, and other malignancies and rare genetic syndromes, may lead to the development of pseudoachalasia. Secondary achalasia is extremely rare, with less than 100 cases reported in the literature so far. Gastrointestinal manifestations in primary or secondary amyloidosis include abdominal pain, diarrhea, constipation, malabsorption, obstruction, motility disturbance, intestinal infarction, perforation, and hemorrhage; however, gastrointestinal tract involvement is asymptomatic in most instances. We present here a rare case of multiple myeloma initially presenting with dysphagia because of esophageal amyloidosis and manometric findings typical of achalasia.

  9. PROGERIA IN SIBLINGS: A RARE CASE REPORT

    Science.gov (United States)

    Sowmiya, R; Prabhavathy, D; Jayakumar, S

    2011-01-01

    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. PMID:22121285

  10. Progeria in siblings: A rare case report

    OpenAIRE

    Sowmiya, R; Prabhavathy, D; S Jayakumar

    2011-01-01

    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 autosoma...

  11. Progeria in siblings: A rare case report

    Directory of Open Access Journals (Sweden)

    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.

  12. Acute Warfarin Toxicity as Initial Manifestation of Metastatic Liver Disease

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    Varalaxmi Bhavani Nannaka

    2016-01-01

    Full Text Available Near complete infiltration of the liver secondary to metastasis from the head and neck cancer is a rare occurrence. The prognosis of liver failure associated with malignant infiltration is extremely poor; the survival time of patients is extremely low. We present a case of acute warfarin toxicity as initial manifestation of metastatic liver disease. Our patient is a 64-year-old woman presenting with epigastric pain and discomfort, found to have unrecordable International Normalized Ratio. She rapidly deteriorated with acute respiratory failure requiring mechanical ventilation, profound shock requiring high dose vasopressor infusion, severe coagulopathy, worsening liver enzymes with worsening of lactic acidosis and severe metabolic abnormalities, and refractory to aggressive supportive care and died in less than 48 hours. Autopsy revealed that >90% of the liver was replaced by tumor masses.

  13. [Pulmonary Manifestations of Vasculitis].

    Science.gov (United States)

    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.

  14. Rare Skeletal Complications in the Setting of Primary Hyperparathyroidism

    Science.gov (United States)

    Sabanis, Nikos; Gavriilaki, Eleni; Paschou, Eleni; Kalaitzoglou, Asterios; Papanikolaou, Dimitrios; Ioannidou, Pinelopi; Vasileiou, Sotirios

    2015-01-01

    Parathyroid carcinoma represents an extremely rare neoplasm with diverse clinical manifestations which vary from asymptomatic patients to severe complications of hypercalcemia or parathyrotoxicosis while skeletal involvement is rather common. Herein we aimed at presenting a unique case of a young patient with rare aggressive skeletal complications of parathyroid cancer that initially were misdiagnosed. Ossification of the cervical ligamentum flavum and skull tumor illustrates erosive bonny lesions of hyperparathyroidism that in association with previous medical history of recurrent nephrolithiasis and biochemical findings guide the diagnosis. We suggest that increased awareness and holistic approach are needed in order to recognize and further investigate signs and symptoms of hyperparathyroidism. PMID:26664767

  15. Rare Skeletal Complications in the Setting of Primary Hyperparathyroidism

    Directory of Open Access Journals (Sweden)

    Nikos Sabanis

    2015-01-01

    Full Text Available Parathyroid carcinoma represents an extremely rare neoplasm with diverse clinical manifestations which vary from asymptomatic patients to severe complications of hypercalcemia or parathyrotoxicosis while skeletal involvement is rather common. Herein we aimed at presenting a unique case of a young patient with rare aggressive skeletal complications of parathyroid cancer that initially were misdiagnosed. Ossification of the cervical ligamentum flavum and skull tumor illustrates erosive bonny lesions of hyperparathyroidism that in association with previous medical history of recurrent nephrolithiasis and biochemical findings guide the diagnosis. We suggest that increased awareness and holistic approach are needed in order to recognize and further investigate signs and symptoms of hyperparathyroidism.

  16. Diverse clinical manifestations of pheochromocytomas.

    Science.gov (United States)

    Badui, E; Mancilla, R; Szymanski, J J; Garcia-Rubi, D; Estañol, B

    1982-03-01

    Many difficulties are encountered by clinicians in attempting to diagnose pheochromocytomas. We describe several patients with unusual clinical features. These include sudden death, cerebral hemorrhage, refractory congestive heart failure, acute abdominal pain, and hypercalcemia. In 2 patients, the rare association of this tumor and pregnancy was observed. Two subjects had sudden death, 1 during a pneumoencephalogram and another during an epidural block. The clinicians should be aware of these manifestations of pheochromocytomas.

  17. Infrequent cardiac manifestations of sarcoidosis.

    Science.gov (United States)

    Ashraf, Said; Briasoulis, Alexandros; Afonso, Luis

    Cardiac sarcoidosis (CS) is found in 2-7% of patients with systemic sarcoidosis (SS). Its diagnosis and treatment is challenging, notwithstanding the poor prognosis and treatment. Hereby, we present a case of systemic sarcoidosis with rare cardiac manifestations of severe mitral incompetence and large coronary aneurysm in a previously healthy woman. She underwent successful mitral valve replacement and coronary artery bypass surgery and was maintained on low dose glucocorticoid therapy. Copyright © 2016. Published by Elsevier Inc.

  18. Radiologic manifestations in the musculoskeletal system of miscellaneous endocrine disorders.

    Science.gov (United States)

    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

  19. Extremely rare coincidence of non-radiographic axial spondyloarthropathy HLA-B27 positive and Stiff Person Syndrome--rheumatologist point of view.

    Science.gov (United States)

    Marinović, Ivanka; Pivalica, Dinko; Aljinović, Jure; Vlak, Tonko; Škorić, Ela; Martinović Kaliterna, Dušanka

    2016-01-01

    Stiff Person Syndrome (SPS) is a rare autoimmune neurological disorder characterized by progressive stiffness and rigidity of truncal muscles accompanied with co-contraction of agonist-antagonist muscles. Our 51-year-old female patient was presented for the first time to physiatrists in 2006 and diagnosed with axial-spondyloarthropathy (SpA) HLA-B27 positive. SPS was diagnosed 7 years after initial symptoms. SPS should be taken into consideration in HLA-B27 positive patients if stiffness of paravertebral and abdominal muscles progresses during SpA therapy.

  20. Cardiovascular manifestations of phaeochromocytoma

    NARCIS (Netherlands)

    Prejbisz, A.; Lenders, J.W.M.; Eisenhofer, G.; Januszewicz, A.

    2011-01-01

    Clinical expression of phaeochromocytoma may involve numerous cardiovascular manifestations, but usually presents as sustained or paroxysmal hypertension associated with other signs and symptoms of catecholamine excess. Most of the life-threatening cardiovascular manifestations of phaeochromocytoma,

  1. Cardiovascular manifestations of phaeochromocytoma

    NARCIS (Netherlands)

    Prejbisz, A.; Lenders, J.W.M.; Eisenhofer, G.; Januszewicz, A.

    2011-01-01

    Clinical expression of phaeochromocytoma may involve numerous cardiovascular manifestations, but usually presents as sustained or paroxysmal hypertension associated with other signs and symptoms of catecholamine excess. Most of the life-threatening cardiovascular manifestations of phaeochromocytoma,

  2. Synchronous dual primary malignancy of urinary bladder and hypopharynx in a 62-year-old male patient: An extremely rare phenomenon

    Directory of Open Access Journals (Sweden)

    Kuna J

    2016-04-01

    Full Text Available The diagnosis of multiple primary malignancy (MPM is not uncommon. Nevertheless synchronous MPM involving urinary bladder and hypopharynx is an extremely unusual event.No such cases have been reported so far in English literature to our review. We report the case of 62-year-old male patient who presented with haematuria and later dysphagia to solids. Whole body 18F-fluro deoxy glucose positron emission tomography- computed tomography (18FFDG PET-CT revealed two distinct lesions one in hypopharynx and another in urinary bladder. Biopsy from the urinary bladder mass and the hypopharyngeal lesion were suggestive of urothelial carcinoma and poorly differentiated squamous cell carcinoma respectively. The patient was treated with concurrent chemo-radiotherapy to hypopharynx. Following treatment he had improvement of dysphagia. Haematuria had also stopped. Because of severe comorbidities the planned radical cystectomy or radiotherapy were deferred. Currently the patient is in symptomatic remission six months following treatment.

  3. Analysis of rare categories

    CERN Document Server

    He, Jingrui

    2012-01-01

    In many real-world problems, rare categories (minority classes) play essential roles despite their extreme scarcity. The discovery, characterization and prediction of rare categories of rare examples may protect us from fraudulent or malicious behavior, aid scientific discovery, and even save lives. This book focuses on rare category analysis, where the majority classes have smooth distributions, and the minority classes exhibit the compactness property. Furthermore, it focuses on the challenging cases where the support regions of the majority and minority classes overlap. The author has devel

  4. Otological manifestations of turner syndrome: Clinical and radiological findings

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    Đerić Dragoslava

    2016-01-01

    Full Text Available Introduction. Turner syndrome is a chromosomal abnormality where all or a part of one of the X chromosomes is absent or it has other abnormalities. Besides characteristic abnormalities of short stature and infertility, women with Turner syndrome have increased risks for tumors of the central nervous system, especially meningioma and an otologic disease. Meningioma involving the middle ear is extremely rare, and this condition has never been published in association with Turner syndrome. Case Report. We present an otologic manifestation associated with other abnormalities in a patient with Turner syndrome and discuss diagnosis and possible treatment options. Conclusion. Multidisciplinary team approach is essential in these patients in order to evaluate their vulnerability and define therapeutic priorities.

  5. Anterior Uveitis as an Initial Manifestation of Polymyalgia Rheumatica

    Directory of Open Access Journals (Sweden)

    Hiromasa Tsuda

    2011-01-01

    Full Text Available A 74-year-old woman without contributory medical history presented with acute iridocyclitis in the right eye. Although the iridocyclitis disappeared within two weeks under topical steroid, she complained of acute progressing bilateral shoulder pain and morning stiffness of upper extremities. She was diagnosed as having polymyalgia rheumatica (PMR, and iridocyclitis was considered as its related manifestation. PMR and giant cell arteritis (GCA are closely related conditions and frequently occur together. GCA with uveitis has been rarely noted. However, ocular symptoms in PMR have not been previously mentioned. This is a first reported case of PMR presented with uveitis, without a complication of GCA. This anterior uveitis might be caused by ischemia of the posterior ciliary arteries and their branches.

  6. Cutaneous manifestations of chikungunya fever.

    Science.gov (United States)

    Seetharam, K A; Sridevi, K; Vidyasagar, P

    2012-01-01

    Chikungunya fever, a re-emerging RNA viral infection produces different cutaneous manifestations in children compared to adults. 52 children with chikungunya fever, confirmed by positive IgM antibody test were seen during 2009-2010. Pigmentary lesions were common (27/52) followed by vesiculobullous lesions (16/52) and maculopapular lesions (14/52). Vesiculobullous lesions were most common in infants, although rarely reported in adults. Psoriasis was exacerbated in 4 children resulting in more severe forms. In 2 children, guttate psoriasis was observed for the first time.

  7. Gaucher disease and bone manifestations.

    Science.gov (United States)

    Marcucci, Gemma; Zimran, Ari; Bembi, Bruno; Kanis, John; Reginster, Jean-Yves; Rizzoli, Renè; Cooper, Cyrus; Brandi, Maria Luisa

    2014-12-01

    Gaucher disease is a relatively rare metabolic disease caused by the inherited deficiency of the lysosomal enzyme glucocerebrosidase. Gaucher disease affects multiple organs, among which is the skeleton. Bone involvement occurs frequently in Gaucher disease, and is one of its most debilitating features, reducing the quality of life of patients. Bone status is an important consideration for treatment to ameliorate symptoms and reduce the risk of irreversible complications. We have conducted a systematic review of all the various aspects of Gaucher disease, focusing on different skeletal manifestations, pathophysiology of bone alterations, clinical symptoms, and current diagnostic and therapeutic approaches.

  8. Sporadic Multifocal Malignant Peripheral Nerve Sheath Tumor-A Rare Presentation: Multifocal MPNST.

    Science.gov (United States)

    Leena, J B; Fernandes, Hilda; Swethadri, G K

    2013-06-01

    Malignant peripheral nerve sheath tumors(MPNST) are uncommon neoplasms with an incidence of 0.001% in general population. Multifocality is a rare manifestation of MPNST . A case of a 65 year old patient who presented with multiple swellings involving the neck, extremity and back without associated neurofibromatosis is reported for its rarity of presentation.. Diagnosis was made by FNAC and confirmed by peroperative findings and histopathology.

  9. Lenz microphthalmia syndrome: three additional cases with rare associated anomalies.

    Science.gov (United States)

    Temtamy, S A; Ismail, S I; Meguid, N A

    2000-01-01

    Lenz microphthalmia syndrome is an extremely rare inherited disorder, characterized by unilateral or bilateral microphthalmia. In rare cases affected patients exhibit complete absence of eye or blepharoptosis resulting in visual impairment. Additional physical abnormalities are often associated with this disorder, orofacial, digital, skeletal and urogenital abnormalities. Here we present three cases of Lenz microphthalmia with additional manifestations: two brothers of first cousin mating, the elder one has bilateral congenital cataract which is a rare ophthalmological finding in this syndrome and a third case who presented to us because of ambiguous genitalia. She was 12 years old, and reared as a female. Chromosomal analysis showed 46,XY karyotype, and hormonal studies indicated 5-alpha reductase deficiency. This is the first report of the association of 5-alpha reductase deficiency with Lenz microphthalmia syndrome.

  10. An integrated wave modelling framework for extreme and rare events for climate change in coastal areas – the case of Rethymno, Crete

    Directory of Open Access Journals (Sweden)

    Vasiliki K. Tsoukala

    2016-04-01

    Full Text Available Coastal floods are regarded as among the most dangerous and harmful of all natural disasters affecting urban areas adjacent to the shorelines. Rapid urbanization combined with climate change and poor governance often results in significant increase of flood risk, especially for coastal communities. Wave overtopping and wave run-up are the key mechanisms for monitoring the results of coastal flooding and as such, significant efforts are currently focusing on their predicting. In this paper, an integrated methodology is proposed, accounting for wave overtopping and wave run-up under extreme wave scenarios caused by storm surges. By taking advantage of past and future climatic projections of wind data, a downscaling approach is proposed, utilizing a number of appropriate numerical models than can simulate the wave propagation from offshore up to the swash zone. The coastal zone of Rethymno in Greece is selected as a case study area and simulations of wave characteristics with the model SWAN for the period 1960–2100 in the offshore region are presented. These data are given as boundary conditions to further numerical models (MIKE21 PMS and HD in order to investigate the spatial evolution of the wave and the hydrodynamic field in intermediate and shallow waters. Finally, the calculated wave height serves as input to empirical formulas and time dependent wave propagation models (MIKE21 BW to estimate the wave run-up and wave overtopping (EurOtop. It is suggested that the proposed procedure is generic enough to be applicable to any similar region.

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

    Energy Technology Data Exchange (ETDEWEB)

    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.

  12. Extrahepatic manifestations of HCV.

    Science.gov (United States)

    Grignoli, R; Goossens, N; Negro, F

    2015-03-01

    The hepatic consequences of an infection with the hepatitis C virus (HCV) are well recognised, but extrahepatic manifestations of HCV may be just as severe. Here we have reviewed various extrahepatic manifestations of HCV such as mixed cryoglobulinemia, lymphoma, metabolic features and neurologic consequences and we discuss pathogenesis and management of these clinical problems. We concluded with important aspects of therapy with novel anti-HCV agents and its effects on extrahepatic manifestations.

  13. Toxoplasmosis and its Ocular Manifestations

    Directory of Open Access Journals (Sweden)

    Koev Kr.

    2014-06-01

    Full Text Available The present review provides general information about the parasitic infection of toxoplasmosis and describes the ways of its transmission. It outlines the importance of the consequences of toxoplasmosis infection and the methods of its prevention. The review traces the harmful effects of the disease on human and animal organisms, the causes and stages of development of the disease. The review specifically focuses on the ocular manifestations of toxoplasmosis which can cause ocular lesions, inflammation and scarring. Herein are described the ways toxoplasmosis can damage the eyes causing chorioretinitis, nystagmus, microphthalmia, etc. Furthermore, the review addresses the problem of how congenital and acquired toxoplasmosis affects eyes. The ocular symptoms of toxoplasmosis include weakened or blurred vision, eyeballs pain, ocular sensitivity to light, etc. The harmful effects of toxoplasmosis to pregnant women and immunocompromised patients have been delineated. Some of the disease manifestations include jaundice, rash, asphyxia, etc. The review traces the diagnostic work-up and comments on common tests for toxoplasmosis, such as taking of blood serum samples. The review ends with the treatment of the disease and of its ocular manifestations in particular, for example application of intravitreous injection. The prevention of the infection is extremely important for pregnant women, immunocompromised patients and patients with AIDS.

  14. How extreme are extremes?

    Science.gov (United States)

    Cucchi, Marco; Petitta, Marcello; Calmanti, Sandro

    2016-04-01

    High temperatures have an impact on the energy balance of any living organism and on the operational capabilities of critical infrastructures. Heat-wave indicators have been mainly developed with the aim of capturing the potential impacts on specific sectors (agriculture, health, wildfires, transport, power generation and distribution). However, the ability to capture the occurrence of extreme temperature events is an essential property of a multi-hazard extreme climate indicator. Aim of this study is to develop a standardized heat-wave indicator, that can be combined with other indices in order to describe multiple hazards in a single indicator. The proposed approach can be used in order to have a quantified indicator of the strenght of a certain extreme. As a matter of fact, extremes are usually distributed in exponential or exponential-exponential functions and it is difficult to quickly asses how strong was an extreme events considering only its magnitude. The proposed approach simplify the quantitative and qualitative communication of extreme magnitude

  15. Atypical manifestations of leptospirosis.

    Science.gov (United States)

    Rajapakse, Senaka; Rodrigo, Chaturaka; Balaji, Krishan; Fernando, Sumadhya Deepika

    2015-05-01

    Leptospirosis is an illness with a wide spectrum of clinical manifestations and severe illness affects nearly all organ systems. Serious and potentially life-threatening clinical manifestations of acute leptospirosis are caused by both direct tissue invasion by spirochaetes and by the host immune responses. In its severe form, leptospirosis can cause multi-organ dysfunction and death in a matter of days. Therefore it is critical to suspect and recognize the disease early, in order to initiate timely treatment. While the classical presentation of the disease is easily recognized by experienced clinicians practising in endemic regions, rarer manifestations can be easily missed. In this systematic review, we summarize the atypical manifestations reported in literature in patients with confirmed leptospirosis. Awareness of these unusual manifestations would hopefully guide clinicians towards early diagnosis.

  16. Peptic Ulcer Perforation as the First Manifestation of Previously Unknown Primary Hyperparathyroidism

    Directory of Open Access Journals (Sweden)

    Eleni I. Efremidou

    2007-06-01

    Full Text Available A patient admitted for acute abdomen was incidentally found with elevated serum calcium level. In surgery, under conservative treatment of the hypercalcemia, a perforated duodenal ulcer was found and simple closure was performed. Postoperatively, calcium level continued to rise, parathyroid hormone was elevated and ultrasonographic examination showed a lesion in the right anterior neck, while serum gastrin level was normal, thus documenting the diagnosis of primary hyperparathyroidism. Conservative treatment had no effect on calcium level and the patient was subjected to emergency neck exploration, where a large parathyroid adenoma was removed. After surgery, calcium and PTH levels were normalized and the patient was discharged on the 5th postoperative day. Peptic ulcer and its complications are usual manifestations of primary hyperparathyroidism, with or without increased gastrin level. On the other hand, cases of a perforation of peptic ulcer as the first clinical manifestation of primary hyperparathyroidism are extremely rare.

  17. Desmoplastic fibroma in the thoracic spine: an unusual localization of a rare primary bone tumor

    Energy Technology Data Exchange (ETDEWEB)

    Juergens, K.U.; Link, T.M.; Heindel, W. [Muenster Univ. (Germany). Inst. fuer Klinische Radiologie; Bullmann, V. [Dept. of Orthopedic Surgery, Univ. of Muenster (Germany); Brinkschmidt, C. [Gerhard Domagk Inst. of Pathology, Univ. of Muenster (Germany)

    2001-02-01

    A case of an intraspinal growing desmoplastic fibroma of the thoracic spine (T9-T11) is reported. Desmoplastic fibroma is a rare tumor of connective tissue that shows a locally infiltrative and destructive growth. An affection of the thoracic spine is an extremely rare manifestation. Preoperative CT documents the extent of osseous destruction and tumor associated cortical erosion. In central tumor areas an inhomogeneous, intermediate to low signal is demonstrated by MRI using T1- and T2-weighted spin-echo and turbo-spin-echo sequences. Contrast-enhanced MRI shows marked enhancement in peripheral areas depicting the extraosseous and intramedullary extension. (orig.)

  18. Intramedullary thoracic spinal cord meningioma: a rare case report and review of the literature.

    Science.gov (United States)

    Yuan, Dun; Liu, Dingyang; Yuan, Xian-rui; Xi, Jian; Ding, Xi-ping

    2013-12-01

    A 33-year-old male presented with a thoracic spinal intramedullary meningioma manifesting as bilateral asymmetric progressive weakness in the lower extremities. Preoperative magnetic resonance imaging (MRI) showed an intramedullary mass at the T1-T3 level. Intraoperative inspection found that the spinal cord was markedly swollen with a normal surface while dural attachment was not confirmed. Gross total removal of the tumor was achieved. The morphologic and immunohistochemical findings were compatible with the diagnosis of meningioma. Postoperatively, the patient recovered from preoperative paraplegia. Although extremely rare, meningiomas should be considered when diagnosing intramedullary tumors. Georg Thieme Verlag KG Stuttgart · New York.

  19. Neurological Manifestations In Inflammatory Bowel Disease

    Directory of Open Access Journals (Sweden)

    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.

  20. Initial cutaneous manifestations of Hutchinson-Gilford progeria syndrome.

    Science.gov (United States)

    Rork, Jillian F; Huang, Jennifer T; Gordon, Leslie B; Kleinman, Monica; Kieran, Mark W; Liang, Marilyn G

    2014-01-01

    Hutchinson-Gilford progeria syndrome (HGPS) is a rare, uniformly fatal, premature aging disease with distinct dermatologic features. We sought to identify and describe the initial skin and hair findings as potential diagnostic signs of the disease. We performed a chart review of the structured initial intake histories of 39 individuals with HGPS enrolled in clinical trials from 2007 to 2010 at Boston Children's Hospital, limited to cutaneous history from birth to 24 months. Medical photographs were provided through the clinical trials and the Progeria Research Foundation Medical and Research Database at Brown University Center for Gerontology and Healthcare Research. All 39 patients reported skin and hair abnormalities within the first 24 months of life. Pathologies included sclerodermoid change, prominent superficial veins, dyspigmentation, and alopecia. The mean age of presentation for each finding was <12 months. The most frequently reported skin feature was sclerodermoid change, which commonly involved the abdomen and bilateral lower extremities. Prominent superficial vasculature manifested as circumoral cyanosis and pronounced veins on the scalp and body. Hypo- and hyperpigmentation were observed over areas of sclerodermoid change. Scalp alopecia progressed in a distinct pattern, with preservation of the hair over the midscalp and vertex areas for the longest period of time. HGPS has distinct cutaneous manifestations during the first 2 years of life that may be the first signs of disease. Awareness of these findings could expedite diagnosis.

  1. Shewanella putrefaciens, a rare cause of splenic abscess.

    Science.gov (United States)

    Basir, Norwani; Yong, Alice Moi Ling; Chong, Vui Heng

    2012-04-01

    Splenic abscess is uncommon and is still associated with significant morbidity and mortality. Gram-negative bacilli are the most commonly isolated organisms, followed by Gram-positive cocci. However, the predominant organisms found depend on the geographic location. Shewanella putrefaciens is a Gram-negative non-fermentative oxidative bacillus found in the environment. Infection usually manifests with a number of clinical syndromes, most commonly as skin or soft tissue infections, typically in patients whose immune system is compromised. Intra-abdominal abscess is extremely rare. We report a case of a 22-year-old female who presented with S. putrefaciens splenic abscesses as the first manifestation of diabetes mellitus, which was successfully managed with a course of antibiotic therapy. Copyright © 2011. Published by Elsevier B.V.

  2. 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.

  3. 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.

  4. Photoletter to the editor: Disseminated histoplasmosis with initial oral manifestations

    OpenAIRE

    Sinha, Surabhi; Sardana, Kabir; Vijay K Garg

    2013-01-01

    Histoplasmosis is a systemic fungal disease that may present in a variety of clinical manifestations. Involvment of the oral mucosa is very rare and may occur as part of disseminated histoplasmosis or as isolated involvement. We present a patient with disseminated histoplasmosis, in whom oral lesions were the initial manifestation of the disease.

  5. Ocular manifestations of candidemia

    NARCIS (Netherlands)

    Oude Lashof, A.M.L.; Rothova, A.; Sobel, J.D.; Ruhnke, M.; Pappas, P.G.; Viscoli, C.; Schlamm, H.T.; Oborska, I.T.; Rex, J.H.; Kullberg, B.J.

    2011-01-01

    BACKGROUND: Ocular candidiasis is a major complication of candidemia. The incidence, risk factors, and outcome of eye involvement during candidemia are largely unknown. We prospectively studied the ocular manifestations of candidemia in a large, worldwide, randomized multicenter trial that compared

  6. Cardiovascular manifestations in hyperthyroidism

    Directory of Open Access Journals (Sweden)

    Vairamani Kandan

    2016-07-01

    Conclusions: This study shows that cardiovascular manifestations are quite common and varied in hyperthyroidism which are to be looked for in the management. [Int J Res Med Sci 2016; 4(7.000: 3032-3038

  7. Extrahepatic manifestations of chronic hepatitis B.

    Science.gov (United States)

    Han, Steven-Huy B

    2004-05-01

    Several extrahepatic manifestations are associated with chronic HBV infection, many with significant morbidity and mortality. The cause of these extrahepatic manifestations is generally believed to be immune mediated. PAN is a rare, but serious, systemic complication of chronic HBV affecting the small- and medium-sized vessels. PAN is seen more frequently in North American and European patients and rarely in Asian patients. PAN ultimately involves multiple organ systems, some with devastating consequences, though the hepatic manifestations are often more mild. The optimal treatment of HBV-associated PAN is thought to include a combination of antiviral and immunosuppressive therapies. HBV-associated GN occurs mainly in children, predominantly males, in HBV endemic areas of the world, but is only occasionally reported in the United States. In children, GN is usually self-limited with only rare progression to renal failure. In adults, the natural disease course of GN may be more relentless, slowly progressing to renal failure. Immunosuppressive therapy in HBV-related GN is not recommended, but antiviral therapy with alpha-interferon has shown promise. The serum-sickness like "arthritis-dermatitis" prodrome is seen in approximately one third of patients acquiring HBV. The joint and skin manifestations are varied, but the syndrome spontaneously resolves at the onset of clinical hepatitis with few significant sequelae. Occasionally, arthritis following the acute prodromal infection may persist; however, joint destruction is rare. The association between HBV and mixed essential cryoglobulinemia remains controversial; but a triad of purpura, arthralgias, and weakness, which can progress to nephritis, pulmonary disease, and generalized vasculitis, has characterized the syndrome. Finally, skin manifestations of HBV infection typically present as palpable purpura. Though papular acrodermatitis of childhood has been reported to be caused by chronic HBV, this association

  8. Life-Threatening Cardiac Manifestations of Pheochromocytoma

    Directory of Open Access Journals (Sweden)

    Luiz R. Leite

    2010-01-01

    Full Text Available Pheochromocytoma is a catecholamine-secreting tumor of the adrenal glands, usually with benign manifestations, whose typical clinical presentation includes the triad of headache, palpitations and diaphoresis. However, a wide range of signs and symptoms may be present. In the cardiovascular system, the most common signs are labile hypertension and sinus tachycardia. Systolic heart failure and ST-segment deviations mimicking myocardial infarction have also been reported, as well as QT interval prolongation and, rarely, ventricular tachycardia. We describe a challenging diagnosis of pheochromocytoma with many cardiovascular manifestations, which could have been missed due to the absence of typical symptoms.

  9. Neurological manifestations in Fabry disease

    Institute of Scientific and Technical Information of China (English)

    Joseph Bruno Bidin Brooks; Yara Dadalti Fragoso

    2016-01-01

    Fabry disease (FD) is a rare, progressive, multisystem and highly debilitating disease. FD is an X-linked lysosome storage disorder that results in α-galactosidase A deifciency. The subsequent accumulation of glycosphingolipids is more evident in vascular endothelium and smooth-muscle cells. The resulting effect of the deposition is generalized inlfammation and vasculopathy, which can also affect the central and peripheral nervous system. FD progresses with kidney dysfunction, angiokeratoma of the skin, cardiomyopathy, cerebrovascular events and neurological disorders. In the present review, the neurological manifestations of FD are summarized with emphasis on cerebral vasculopathy, cochlear nerve dysfunction, psychiatric and cognitive symptoms, autonomic dysfunction and peripheral neuropathy. Enzyme replacement therapy is also discussed in the light of its more prominent effects when administered early in life, which make it essential to diagnose FD as soon as possible.

  10. 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

  11. 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

  12. Primary pulmonary manifestation of Waldenstroem's macroglobulinemia. Primaer pulmonale Manifestation der Makroglobulinaemie Waldenstroem

    Energy Technology Data Exchange (ETDEWEB)

    Gaa, J.; Deininger, H.K. (Staedtische Kliniken Darmstadt (Germany, F.R.). Strahleninstitut)

    1989-10-01

    A case of Waldenstroem's macroglobulinemia (MGW) is presented with a rare primary pulmonary manifestation. The disease was discovered from abnormal reticulonodular opacities in chest X-ray films, which at first did not have the classic features of MGW. The radiological findings and therapeutic possibilities are discussed with reference to the literature. (orig.).

  13. Acral papular mucinosis: a new case of this rare entity*

    Science.gov (United States)

    Gómez Sánchez, María Encarnación; de Manueles Marcos, Fernando; Martínez Martínez, Maria Luisa; Vera Berón, Roberto; Azaña Défez, Jose Manuel

    2016-01-01

    Acral persistent papular mucinosis (APPM) is a rare subtype of localized lichen myxedematosus. It consists of small papules localized exclusively on the back of the hands, wrists and extensor aspects of distal forearms with no other clinical or laboratory manifestations. The lesions tend to persist and may increase slowly in number. Histologically, hematoxylin-eosin and Alcian blue staining demonstrate mucin accumulation in the upper reticular dermis with separation of collagen fibers as a result of hyaluronic acid deposition. Treatment is rarely necessary due to the absence of symptoms. We present a 27-year-old healthy woman with asymptomatic papules on her upper extremities, which adequately meet clinical and pathological criteria of acral papular mucinosis.

  14. [Neuropsychiatric manifestations ushering pernicious anemia].

    Science.gov (United States)

    Mrabet, S; Ellouze, F; Ellini, S; Mrad, M F

    2015-12-01

    Biermer disease or pernicious anemia is an autoimmune atrophic gastritis characterized by the lack of secretion of gastric intrinsic factor. This leads to an insufficient absorption of vitamin B12 in the ileum. Clinical manifestations are mainly hematologic. Neuropsychiatric manifestations are known but are less frequent especially early in the disease. Inaugural neuropsychiatric arrays are rare and various thus making diagnosis difficult. In this article, we report through two clinical cases different neuropsychiatric manifestations revealing pernicious anemia. Mrs. C.O., aged 56, presented after surgery for gallstones, an acute psychiatric array associated with gait disorders. She had no history of neurological or psychiatric problems. The psychiatric interview revealed delirious syndrome, depressive symptoms and anxiety. Neurological examination noted a flaccid paraplegia with peripheral neuropathic syndrome and myoclonus in the upper limbs. At the full blood count, a macrocytosis (VGM: 112.2fl) without anemia was found. The level of vitamin B12 in the blood was low. Cerebro-spinal MRI was suggestive of a neuro-Biermer and showed hyper signal in the cervical cord on T2-weighted sagittal section. In axial section, hyper signal appears at the posterior columns in the form of V. There were no brain abnormalities. A sensorimotor axonal polyneuropathy was diagnosed. The patient received vitamin B12 intramuscularly for ten days associated with neuroleptic treatment. Mrs. R.M., aged 40, was brought to the psychiatry consultation for acute behavioral disorders progressively worsening over a month. An anxiety syndrome, depressive syndrome and delirious syndrome were identified. Neurological examination showed a posterior cordonal syndrome with quadripyramidal syndrome. Full blood count showed a macrocytic anemia. Serum B12 level was collapsed. Cerebro-spinal MRI was normal. She received vitamin B12 with clinical and biological improvement. Features of pernicious anemia

  15. Vertigo as a Predominant Manifestation of Neurosarcoidosis

    Directory of Open Access Journals (Sweden)

    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.

  16. Skin manifestations in autoinflammatory syndromes.

    Science.gov (United States)

    Braun-Falco, Markus; Ruzicka, Thomas

    2011-03-01

    Autoinflammatory diseases encompass a group of inflammatory diseases that are non-infectious, non-allergic, non-autoimmune and non-immunodeficient. The term was initially coined for a small group of familial periodic fever syndromes of which familial Mediterranean fever (FMF) is the most common and best known. Genetic and molecular analyses demonstrated for the majority of these diseases an impairment of inflammasomes to cause an increased activity of an interleukin-1-dependent inflammatory response. Over the last years an increasing number of either rare hereditary syndromes or acquired common diseases could be summarized under the designation of autoinflammatory disease, thus creating an emerging new rubric of inflammatory diseases. Many of them display cutaneous manifestations as both concomitant or more rarely main symptoms. To name some of them like erysipelas-like erythema in FMF; urticaria-like rashes in tumor necrosis factor receptor 1- or cryopyrin-associated periodic syndromes (TRAPS, CAPS), hyperimmunoglobulin D syndrome (HIDS) or Schnitzler syndrome; pyoderma gangrenosum and acne in PAPA syndrome; or behçetoid aphthous ulcerations in HIDS and PFAPA syndrome. Based on the new insights into pathogenesis one increasingly realizes the good response of these diseases to IL-1 antagonist therapies.

  17. Pulmonary manifestations of leptospirosis

    Directory of Open Access Journals (Sweden)

    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.

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

    Energy Technology Data Exchange (ETDEWEB)

    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.

  19. [Extra-articular manifestations of seronegative spondylarthritis].

    Science.gov (United States)

    Cammelli, Daniele

    2006-05-01

    Seronegative spondylarthritis are frequently characterised by extra-articular manifestations. They are frequently in recurrent uveitis. Between the cutaneous manifestations should be mentioned erythema nodosum, typical of inflammatory bowel diseases, and keratoderma blenorrhagicum, in the Reiter's syndrome. Cardiac complications in ankylosing spondylitis (AS) include aortic valvular regurgitation and arrhythmia and, more rarely, mitral valvulopathy, cardiomyopathy and pericarditis. Pulmonary involvement in AS includes ventilatory restrictive syndrome and fibro-bullous disease of the apex. Vertebral osteoporosis is a very important extra-articular manifestation because of the possibility of spontaneous fractures of the vertebrae. Central neurological manifestations include medullary compression from cervical sub-luxation while the most important peripheral involvements are lumbar stenosis and the cauda equina syndrome. Type AA amyloidosis is a rare late complication of the AS, possible cause of death especially in patients with aggressive disease. Kidney complications can be observed as consequences of prolonged anti-inflammatory therapy, but the most frequent renal complications are amyloidosis and mesangial IgA segmental and focal glomerulonephritis.

  20. Hepatitis A: clinical manifestations and management.

    Science.gov (United States)

    Jeong, Sook-Hyang; Lee, Hyo-Suk

    2010-01-01

    Due to improved living conditions and subsequent changes in hepatitis A epidemiology, the disease burden of hepatitis A is increasing in many regions. Recently, Korea has faced a large, community-wide outbreak of hepatitis A, which has prompted a vaccination program. The clinical spectrum of hepatitis A virus infection ranges from asymptomatic infection to fulminant hepatitis. Clinical manifestations depend on the age of the host: less than 30% of infected young children are symptomatic, while about 80% of infected adults manifest severe hepatitis with remarkably elevated serum aminotransferases. Fulminant hepatitis is rare, with a reported incidence from 0.015 to 0.5%. Atypical manifestations include relapsing hepatitis and prolonged cholestasis, and complicated cases with acute kidney injury have been reported. Extrahepatic manifestations, such as autoimmune hemolytic anemia, aplastic anemia, pure red cell aplasia, pleural or pericardial effusion, acute reactive arthritis, acute pancreatitis, acalculous cholecystitis, mononeuritis, and Guillain-Barré syndrome, have been rarely reported. Management of hepatitis A includes general supportive care, and critical decisions regarding liver transplantation await further studies on prognostic predictors. Fundamental management of hepatitis A is active vaccination. However, a vaccination program should be adapted to the regional situation, according to differing epidemiology and disease burden.

  1. Atypical manifestations of multiple myeloma: Radiological appearance

    Energy Technology Data Exchange (ETDEWEB)

    Hess, Thomas [Department of Radiology, St-Vincenz Hospital, Auf dem Schafsberg, D-65549 Limburg (Germany)]. E-mail: t.hess@st-vincenz.de; Egerer, Gerlinde [Department of Internal Medicine V, Haematology/Oncology, University of Heidelberg, Im Neuenheimer Feld 410, 69120 Heidelberg (Germany); Kasper, Bernd [Department of Internal Medicine V, Haematology/Oncology, University of Heidelberg, Im Neuenheimer Feld 410, 69120 Heidelberg (Germany); Rasul, Kakil Ibrahim [Hamad Medical Center, Moha (Qatar); Goldschmidt, Hartmut [Department of Internal Medicine V, Haematology/Oncology, University of Heidelberg, Im Neuenheimer Feld 410, 69120 Heidelberg (Germany); Kauffmann, G.W. [Department of Radiology, University of Heidelberg, Im Neuenheimer Feld 110, 69120 Heidelberg (Germany)

    2006-05-15

    Diagnostic procedures performed on patients with multiple myeloma typically reveal lytic bone lesions, osteopenia or osteoporosis, bone marrow infiltration by plasma cells as well as overproduction of immunoglobulin or light chains in the serum or urine. Skeletal manifestations are extremely variable and the unusual forms have been described extensively. Extramedullary plasma-cell tumours (plasmocytoma) are found in about 5% of newly diagnosed patients with multiple myelomas. In this paper we present eight patients with atypical forms of multiple myeloma.

  2. Oral Manifestations of Menopause

    African Journals Online (AJOL)

    The oral manifestations may vary for each patient in the form of burning mouth syndrome .... as chlorhexidine aids in reduction of the accumulation of dental plaque.[5,10 ... women with missing teeth may have a higher risk of hypertension and ...

  3. Rare (Earth Elements [score

    Directory of Open Access Journals (Sweden)

    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.

  4. Heart Manifestations in TSC

    Science.gov (United States)

    ... occur in TSC. Although rare, some patients have coarctation of the aorta, renal artery stenosis, or thoracic ... of cardiac tumors and thoracic vascular abnormalities, including coarctation of the aorta. An abdominal ultrasound is the ...

  5. Guillain-Barre syndrome: A rare manifestation of Hansen's disease

    National Research Council Canada - National Science Library

    Rakshith, K; Pai, Shivanand; Mittal, Saumya; Misri, Z; Shenoy, Nisha

    2017-01-01

    ... 5 days. The weakness was distal as well as proximal. The patient also turned out to be a case of Hansen's disease. This was detected approximately 2 months before his presentation to the hospital as a result of ulceration of the foot. He was off treatment because of gastric ulcerations. There was no other significant medical history. The pati...

  6. A rare manifestation of perforated diverticulitis: parastomal subcutaneous abscess.

    NARCIS (Netherlands)

    Peters, J.H.; Bleichrodt, R.P.; Goor, H. van

    2003-01-01

    Perforation is a serious complication of diverticular disease. The sigmoid is the main affected anatomic site of perforated diverticulitis and sigmoid resection followed either by Hartmann procedure or primary anastomosis are the standard surgical approaches. Surgery, however, does not cure divertic

  7. Porokeratosis ptychotropica: a rare manifestation with typical histological exam*

    Science.gov (United States)

    Veasey, John Verrinder; Dalapicola, Monique Coelho; Lellis, Rute Facchini; Campaner, Adriana Bittencourt; Manzione, Thiago da Silveira; Rodrigues, Maria Clarissa de Faria Soares

    2016-01-01

    Porokeratosis is a disorder of epidermal keratinization characterized clinically by a distinctive ridge-like border, and histologically by cornoid lamellae. The known clinical variants of porokeratosis are: classic porokeratosis of Mibelli, disseminated superficial (actinic) porokeratosis (DSAP), porokeratosis palmaris et plantaris disseminata, linear porokeratosis and punctate porokeratosis. In 1995, a seventh form was described as porokeratosis ptychotropica: a verrucous form resembling psoriasis involving the gluteal cleft presenting on the histological exam multiple cornoid lamellae. There are very few reports in the literature of this clinical variant. The present study describes the case of a healthy male presenting gluteal hyperkeratotic plaques for 22 years. He had been to several dermatologists, none of them had achieved a definitive diagnosis. We present a typical clinical presentation and its dermoscopy findings, in addition to histological examination that confirmed the diagnosis. PMID:27579746

  8. Rare presentation of biliary ascariasis.

    Science.gov (United States)

    Rather, Ajaz; Salati, Sajad Ahmad

    2010-09-01

    Ascariasis is the most common helminthic infection in the world. We present a very rare manifestation of ascariasis in which the worms came out through the T-tube tract of a 36 years old patient who had undergone cholecystectomy with choledocholithotomy.

  9. Rare Power

    Institute of Scientific and Technical Information of China (English)

    2011-01-01

    China begins to reinvigorate the rare earth industry after decades of underselling the valuable metals On May 19,the State Council released Guidelines to Promote Sustainable and Sound Development of the Rare Earth Industry,delivering a strong boost to the fragmented industry.

  10. Rare Security

    Institute of Scientific and Technical Information of China (English)

    2011-01-01

    China’s regulation on rare earth accords with WTO rules Worries abound Western countries may use a recent WTO ruling on China’s exports restriction on nine raw materials to launch actions against China’s curbs on rare earth exports.

  11. Inflammatory Manifestations of Lymphedema

    Directory of Open Access Journals (Sweden)

    Catherine L. Ly

    2017-01-01

    Full Text Available Lymphedema results from lymphatic insufficiency leading to a progressive inflammatory process that ultimately manifests as discomfort, recurrent infections, and, at times, secondary malignancy. Collectively, these morbidities contribute to an overall poor quality of life. Although there have been recent advances in microsurgical interventions, a conservative palliative approach remains the mainstay of treatment for this disabling disease. The absence of a cure is due to an incomplete understanding of the pathophysiological changes that result in lymphedema. A histological hallmark of lymphedema is inflammatory cell infiltration and recent studies with animal models and clinical biopsy specimens have suggested that this response plays a key role in the pathology of the disease. The purpose of this report is to provide an overview of the ongoing research in and the current understanding of the inflammatory manifestations of lymphedema.

  12. Inflammatory Manifestations of Lymphedema

    Science.gov (United States)

    Ly, Catherine L.; Kataru, Raghu P.; Mehrara, Babak J.

    2017-01-01

    Lymphedema results from lymphatic insufficiency leading to a progressive inflammatory process that ultimately manifests as discomfort, recurrent infections, and, at times, secondary malignancy. Collectively, these morbidities contribute to an overall poor quality of life. Although there have been recent advances in microsurgical interventions, a conservative palliative approach remains the mainstay of treatment for this disabling disease. The absence of a cure is due to an incomplete understanding of the pathophysiological changes that result in lymphedema. A histological hallmark of lymphedema is inflammatory cell infiltration and recent studies with animal models and clinical biopsy specimens have suggested that this response plays a key role in the pathology of the disease. The purpose of this report is to provide an overview of the ongoing research in and the current understanding of the inflammatory manifestations of lymphedema. PMID:28106728

  13. MANIFEST OF DEPTH SOCIOPSYCHOLOGY

    OpenAIRE

    ZELITCHENKO ALEXANDER

    2013-01-01

    The observations of motives of activity of big groups (nations, confessions etc.) as a whole result in discovery of the part of unconscious mind that is common for all members of big group a collective unconscious. Two parts of collective unconscious may be determined: the collective superconscious known first as a group archetype and the collective subconscious, which manifest itself for example in phenomenon of collective trauma. Depth sociopsychology is a science about the collective uncon...

  14. Haematological manifestations of lupus

    OpenAIRE

    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 manif...

  15. Orofacial manifestations of achondroplasia

    OpenAIRE

    Kaushik, Atul; Kumar, Munish; Rohilla, Smriti; Tanwar, Renu; V C Vinod

    2012-01-01

    Achondroplasia (Online Mendelian Inheritance in Man [OMIM] 100800), is considered as a form of skeletal dysplasia dwarfism that manifests with stunted stature and disproportionate limb shortening. Achondroplasia is of special interest in the field of dentistry because of its characteristic craniofacial features which include relative macrocephaly, depressed nasal bridge and maxillary hypoplasia. Presence of large head, implanted shunt, airway obstruction and difficulty in head control require...

  16. Ocular manifestations of leptospirosis

    Directory of Open Access Journals (Sweden)

    Rathinam S

    2005-01-01

    Full Text Available Leptospiral uveitis is a common entity in tropical countries. Ocular manifestations are noted in the second phase of illness, but these remain under-diagnosed mainly because of the prolonged symptom-free period that separates the systemic manifestations from detection of ocular manifestations.Varying ophthalmic presentations and the intrinsic nature of different types of uveitis to mimic one another also challenge the accuracy of the diagnosis. Of the individual ocular signs, the combination of acute, non-granulomatous, panuveitis, hypopyon, vasculitis, optic disc edema, membranous vitreous opacities and absence of choroiditis or retinitis have high predictive value for the clinical diagnosis of leptospiral uveitis. Geographic location of the patient, occupation, socio-economic status, risk factors related to exposure, past history of fever or jaundice also aid in diagnosis.Steroids are the mainstay of treatment for leptospiral uveitis. Depending upon the severity and anatomical location of inflammatory lesion, topical, peri-ocular and/or systemic steroids are given. The prognosis is generally good, even when the inflammation is severe.

  17. Lipodystrophy: metabolic insights from a rare disorder.

    Science.gov (United States)

    Huang-Doran, Isabel; Sleigh, Alison; Rochford, Justin J; O'Rahilly, Stephen; Savage, David B

    2010-12-01

    Obesity, insulin resistance and their attendant complications are among the leading causes of morbidity and premature mortality today, yet we are only in the early stages of understanding the molecular pathogenesis of these aberrant phenotypes. A powerful approach has been the study of rare patients with monogenic syndromes that manifest as extreme phenotypes. For example, there are striking similarities between the biochemical and clinical profiles of individuals with excess fat (obesity) and those with an abnormal paucity of fat (lipodystrophy), including severe insulin resistance, dyslipidaemia, hepatic steatosis and features of hyperandrogenism. Rare lipodystrophy patients therefore provide a tractable genetically defined model for the study of a prevalent human disease phenotype. Indeed, as we review herein, detailed study of these syndromes is beginning to yield valuable insights into the molecular genetics underlying different forms of lipodystrophy, the essential components of normal adipose tissue development and the mechanisms by which disturbances in adipose tissue function can lead to almost all the features of the metabolic syndrome.

  18. Extreme Heat

    Science.gov (United States)

    ... Landslides & Debris Flow Nuclear Blast Nuclear Power Plants Power Outages Pandemic Radiological Dispersion Device Severe Weather Snowstorms & Extreme ... Landslides & Debris Flow Nuclear Blast Nuclear Power Plants Power Outages Pandemic Radiological Dispersion Device Severe Weather Snowstorms & Extreme ...

  19. Retinal detachment as the inaugural manifestation in Waldenstrom′s macroglobulinemia

    Directory of Open Access Journals (Sweden)

    Hanumanthappa Vijaya Raghavendra

    2015-01-01

    Full Text Available Waldenstrom′s macroglobulinemia (WM is a rare disorder and forms 1-2% of hematological malignancies. Rarely retinal detachment precedes the diagnosis of WM. In this case report, we present 65-year-old man with retinal detachment as the inaugural manifestation in WM. Clinical manifestations in WM are related to direct tumor infiltration, circulating immunoglobulin M (IgM and deposition into tissues, amyloidogenic properties and autoantibody activity of IgM. Diagnosis is difficult, when a rare disease manifests differently, as in our case. Delay in diagnosis can be prevented by heightened awareness of this rare disease.

  20. Radiologic manifestations in alcaptonuria

    Energy Technology Data Exchange (ETDEWEB)

    Justesen, P.; Andersen, P.E.

    1984-03-01

    Alcaptonuria is a rare, hereditary disorder of amino acid metabolism, secondary to lack of homogentisic acid oxydase. As a consequence, there is an accumulation of homogenitisic acid, which is excreted in the urine and deposited in the connective tissues. This deposition results in ochronotic pigmentation and arthropathy, of which some characteristic radiological findings are demonstrated.

  1. Rheumatological manifestations in diabetes mellitus.

    Science.gov (United States)

    Del Rosso, Angela; Cerinic, Marco Matucci; De Giorgio, Francesca; Minari, Chiara; Rotella, Carlo Maria; Seghieri, Giuseppe

    2006-11-01

    Rheumatological manifestations of Diabetes Mellitus may be classified in: non articular, articular and bone conditions. Among non articular conditions, diabetic cheiroarthropathy, frequent in type I diabetes, the most important disorder related to limited joint mobility, results in stiff skin and joint contractures. Adhesive capsulitis of the shoulder, flexor tenosynovitis, and Duputryen's and Peyronie's diseases are also linked to limited joint mobility. Diffuse skeletal hyperostosis, due to calcification at entheses, is frequent and early, particularly in type 2 diabetes. Neuropathies cause some non articular conditions, mainly neuropathic arthritis, a destructive bone and joint condition more common in type I diabetes. Algodistrophy, shoulder-hand and entrapment syndromes are also frequent. Mononeuropathy causes diabetic amyotrophy, characterised by painless muscle weakness. Among muscle conditions, diabetic muscle infarction is a rare, sometimes severe, condition. Among articular conditions, osteoarthritis is frequent and early in diabetes, in which also chondrocalcinosis and gout occur. Rheumatoid arthritis (RA) and diabetes I have a common genetic background and the presence of diabetes gives to RA an unfavourable prognosis. Among bone conditions, osteopenia and osteoporosis may occur early in type 1 diabetes. Contrarily, in type 2 diabetes, bone mineral density is similar or, sometimes, higher than in non diabetic subjects, probably due to hyperinsulinemia.

  2. [Intersticial lung disease as the sole manifestation of antisynthetase syndrome].

    Science.gov (United States)

    Monteiro, Paulo; Coutinho, Margarida; Machado, Pedro; Garcia, Jorge; Salvador, Maria João; Inês, Luís; Silva, Jorge; Malcata, Armando

    2009-01-01

    The authors report a clinical case of a woman who had a 3 years diagnosis of hipersensitivity pneumonitis based on intersticial lung disease without other manifestations. The diagnosis of antisynthetase syndrome was made three years after the initial symptoms upon the onset of systemic manifestations with articular involvement, myositis and determination of anti-PL 7 antibodies. In this syndrome, the isolated pulmonary involvement is rare.

  3. Neurological manifestation as presenting feature of dengue infection

    Directory of Open Access Journals (Sweden)

    Anju Aggarwal

    2015-01-01

    Full Text Available Neurological manifestation as the presenting feature of dengue infection is rare. This is a brief description of five children 5 months to 11 years with presenting features as seizures or altered sensorium. Bleeding manifestations were seen in two. Cerebrospinal fluid examination was normal in all. All were diagnosed as per WHO definition of dengue hemorrhagic fever and managed as per standard protocol. Serology (IgM dengue or nonstructural protein 1 antigen was positive in all.

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

    Directory of Open Access Journals (Sweden)

    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

  5. Acute myelopathy with sudden paraplegia as the sole manifestation of meningococcal meningitis

    Directory of Open Access Journals (Sweden)

    Wanis H. Ibrahim

    2010-02-01

    Full Text Available Acute myelopathy with sudden paraplegia is a very rare manifestation of meningococcal meningitis, with only a few cases reported in the literature. In almost all previously reported cases, other clinical manifestations of meningitis, such as fever, headache, and neck stiffness preceded acute myelopathy. In this paper, we report a case of acute myelopathy with sudden paraplegia as the sole manifestation of meningococcal meningitis, in the absence of other clinical manifestations of meningitis.

  6. Discourse Manifestation of Personality

    Directory of Open Access Journals (Sweden)

    Владимир Ильич Карасик

    2016-12-01

    Full Text Available The paper deals with approaches to discourse studies. The approaches may be regarded as discourse dimensions associated with models presented and substantiated by M.M. Bakhtin, J. Habermas, Yu.M. Lotman and M.A.K. Halliday. They comprise contents, participants, tonality, channel and communicative actions. The approaches described complement each other and make it possible to synthesize the results achieved in Text Linguistics, Pragmatics, Social Linguistics, and Discourse Studies. They are joined by and oriented towards the concept of Language Personality, i.e. persons who manifest themselves in various kinds of communicative situations. However, each discourse dimension corresponds to a certain type of discourse. A Topic Approach to discourse focuses upon its contents (its referential substance and specifies the correlation between explicit and implicit meaning expression. A Subject Approach to discourse makes it possible to single out and describe two basic types of communication as presented in Personality bound and Status bound discourse, the former diverges into two subtypes - Habitual and Existential communication, whereas the latter is manifested in various kinds of Institutional discourse. A Tonality Approach to discourse highlights different types of stylistic and emotional modes of communication and correspondingly characterizes personality types who are engaged in such situations. A Regime Approach is concentrated on communication channel and technical peculiarities of behavior determined by those restrictions. An Action Approach to discourse gives us a broader understanding of a performative act, i.e. an action incorporated in culture and a situational behavioral interaction.

  7. Rheumatologic Manifestations of Sarcoidosis

    Science.gov (United States)

    Sweiss, Nadera J.; Patterson, Karen; Sawaqed, Ray; Jabbar, Umair; Korsten, Peter; Hogarth, Kyle; Wollman, Robert; Garcia, Joe G.N.; Niewold, Timothy B.; Baughman, Robert P.

    2012-01-01

    Sarcoidosis is a systemic, clinically heterogeneous disease characterized by the development of granulomas. Any organ system can be involved, and patients may present with any number of rheumatologic symptoms. There are no U.S. Food and Drug Administration–approved therapies for the treatment of sarcoidosis. Diagnosing sarcoidosis becomes challenging, particularly when its complications cause patients’ symptoms to mimic other conditions, including polymyositis, Sjögren syndrome, or vasculitis. This review presents an overview of the etiology of and biomarkers associated with sarcoidosis. We then provide a detailed description of the rheumatologic manifestations of sarcoidosis and present a treatment algorithm based on current clinical evidence for patients with sarcoid arthritis. The discussion will focus on characteristic findings in patients with sarcoid arthritis, osseous involvement in sarcoidosis, and sarcoid myopathy. Arthritic conditions that sometimes coexist with sarcoidosis are described as well. We present two cases of sarcoidosis with rheumatologic manifestations. Our intent is to encourage a multidisciplinary, translational approach to meet the challenges and difficulties in understanding and treating sarcoidosis. PMID:20665396

  8. Hematologic manifestations of babesiosis.

    Science.gov (United States)

    Akel, Tamer; Mobarakai, Neville

    2017-02-15

    Babesiosis, a zoonotic parasitic infection transmitted by the Ixodes tick, has become an emerging health problem in humans that is attracting attention worldwide. Most cases of human babesiosis are reported in the United States and Europe. The disease is caused by the protozoa of the genus Babesia, which invade human erythrocytes and lyse them causing a febrile hemolytic anemia. The infection is usually asymptomatic or self-limited in the immunocompetent host, or follows a persistent, relapsing, and/or life threatening course with multi-organ failure, mainly in the splenectomized or immunosuppressed patients. Hematologic manifestations of the disease are common. They can range from mild anemia, to severe pancytopenia, splenic rupture, disseminated intravascular coagulopathy (DIC), or even hemophagocytic lymphohistiocytosis (HLH). A 70 year old immunocompetent female patient living in New York City presented with a persistent fever, night sweats, and fatigue of 5 days duration. Full evaluation showed a febrile hemolytic anemia along with neutropenia and thrombocytopenia. Blood smear revealed intraerythrocytic Babesia, which was confirmed by PCR. Bone marrow biopsy was remarkable for dyserythropoiesis, suggesting possible HLH, supported by other blood workup meeting HLH-2004 trial criteria. Human babesiosis is an increasing healthcare problem in the United States that is being diagnosed more often nowadays. We presented a case of HLH triggered by Babesia microti that was treated successfully. Also, we presented the hematologic manifestations of this disease along with their pathophysiologies.

  9. [Cerebrotendinous xanthomatosis: physiopathology, clinical manifestations and genetics].

    Science.gov (United States)

    Preiss, Yudith; Santos, José L; Smalley, Susan V; Maiz, Alberto

    2014-05-01

    Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive disease, caused by genetic deficiency of the 27-hydroxylase enzyme (encoded by CYP27A1). It plays a key role in cholesterol metabolism, especially in bile acid synthesis and in the 25-hydroxylation of vitamin D3 in the liver. Its deficiency causes reduced bile acid synthesis and tissue accumulation of cholestanol. Clinical manifestations are related to the presence of cholestanol deposits and include tendon xanthomas, premature cataracts, chronic diarrhea, progressive neurologic impairment and less frequently coronary heart disease, early onset osteoporosis and abnormalities in the optic disk and retina. An early diagnosis and treatment with quenodeoxycholic acid may prevent further complications, mainly neurological manifestations. This review summarizes cholesterol metabolism related to bile acid synthesis, physiopathology, biochemistry and treatment of cerebrotendinous xanthomatosis.

  10. [Multiple sclerosis: pathogenesis and manifestations in children].

    Science.gov (United States)

    Brissaud, O; Palin, K; Chateil, J F; Pedespan, J M

    2001-09-01

    Multiple sclerosis (MS) is rare in children and occurs exceptionally before ten years. Sex ratio (girl/boy) is around 2.5 to 3, higher than in adults. Brain stem dysfunction and meningeal symptoms are more commonly first manifestations of the disease than in adults. Optic neuritis is also a frequent early manifestation. The etiology of the disease remains unclear and none of the advanced hypotheses (infectious, genetic, environmental) can by themselves explain its occurrence. There is a genetic susceptibility which is probably linked to many genes leading to a low related risk (less than two). A viral trigger mechanism in a person with a genetic predisposition is possible. New therapies result from a better understanding of the closed immune mechanisms of the disease.

  11. Chest wall involvement as a manifestation of Brucellosis

    Directory of Open Access Journals (Sweden)

    K Rahmdel

    2011-01-01

    Full Text Available Brucellosis continues to be a common infectious disease in some parts of the world. Although the disease has different presentations, but chest wall involvement, as a manifestation of brucellosis is rare. In this study, we report three cases of chest wall involvement as manifesting feature of Brucellosis in Iran. They presented with a history of parasternal masses revealed to a diagnosis of Brucellosis and responded well to the treatment. Brucellosis may present with strange and unpredictable manifestations and can be misdiagnosed with tuberculosis and malignancies, especially in endemic areas for both TB and brucellosis.

  12. The tricho-rhino-phalangeal syndrome: oral manifestations and management.

    Science.gov (United States)

    Roberts, T; Chetty, M; Stephen, L; Fieggen, K; Beighton, P

    2014-05-01

    Tricho-rhino-phalangeal Syndrome (TRPS) is a rare inherited dysplasia affecting hair, nasal structure and fingers. A literature review indicated that since first described, three types of manifestations have been identified. A Table summarising the oral manifestations demonstrates the variety of presentations. A South African male child presented with the syndrome and was found to show premature eruption of permanent teeth, a finding that has not been previously reported. His oro-facial manifestations also included malaligned and unerupted crowded teeth, bulbosity of the nasal tip and an elongated philtrum and evidence of mild intellectual impairment. A protocol has been developed to guide the future management of these cases.

  13. Paraneoplastic stiff person syndrome: Inpatient rehabilitation outcomes of a rare disease from two cancer rehabilitation programmes.

    Science.gov (United States)

    Smith, Sean Robinson; Fu, Jack B

    2016-07-18

    Paraneoplastic stiff person syndrome is a rare, but debilitating, manifestation of cancer, characterized by painful extremities, truncal and facial spasms. The resultant functional impairment may necessitate comprehensive rehabilitation and symptom management. This case series describes the acute inpatient rehabilitation courses of 2 patients at different tertiary care referral cancer rehabilitation programmes, including work-up and diagnosis, medical management of symptoms, and functional outcomes. Both patients had a reduction in symptom burden and an improvement in motor function as a result of multidisciplinary acute inpatient rehabilitation.

  14. Cutaneous manifestations of Helicobacter cinaedi infection.

    Science.gov (United States)

    Shimizu, Satoko; Inokuma, Daisuke; Watanabe, Mika; Sakai, Toshiya; Yamamoto, Satoshi; Tsuchiya, Kikuo; Shimizu, Hiroshi

    2013-03-27

    Helicobacter cinaedi causes gastroenteritis and bacter-aemia, particularly in immunocompromised individuals. Although cellulitis is sometimes reported to accompany infection by this pathogen, the cutaneous manifestations are poorly understood. To clarify the characteristic cutaneous features, 47 cases of H. cinaedi bacteraemia experienced at Sapporo City General Hospital as nosocomial infection were retrospectively evaluated. Thirty-four percent (16 cases) of the patients showed cutaneous lesions. They all had sudden onset of erythemas accompanied by high temperature. The most common cutaneous manifestations were found to be superficial cellulitis, which results in painful erythemas or infiltrated erythematous plaques on the extremities. These skin lesions can be an early clinical indicator of H. cinaedi bacteraemia in the setting of nosocomial infection.

  15. Cutaneous Manifestations of Toxoplasmosis: a Case Report

    Directory of Open Access Journals (Sweden)

    Marina Sonya

    2014-09-01

    Full Text Available Although toxoplasmosis is one of the most widely spread infections in the world, types that involve the skin are extremely rare. However, skin lesions are not specific; moreover, they are quite diverse, which makes the diagnosis of cutaneous toxoplasmosis rather difficult. Thus, differential diagnosis should include a number of other diseases. We present a case of a 43-year-old immunocompetent man with multiple livid erythematous papules and nodules with yellowish discharge that involved the skin of the body and the extremities. By using electro-chemiluminescence immunoassay, immunoglobulin G antibodies to Toxoplasma gondii were detected in the serum, confirming the diagnosis of toxoplasmosis. The treatment with pyrimethamine and trimethoprim-sulfamethoxazole led to complete resolution of skin lesions. In conclusion, although rare in the dermatological practice, cutaneous toxoplasmosis should be considered in all patients presenting with lymphadenopathy, non-specific skin eruptions, especially nodular and colliquative, blood eosinophilia and histological findigs revealing abundant eosinophilic inflitrations.

  16. Respiratory manifestations of hypothyroidism

    DEFF Research Database (Denmark)

    Sorensen, Jesper Roed; Winther, Kristian Hillert; Bonnema, Steen Joop

    2016-01-01

    BACKGROUND: Hypothyroidism has been associated with increased pulmonary morbidity and overall mortality. We conducted a systematic review to identify the prevalence and underlying mechanisms of respiratory problems among patients with thyroid insufficiency. METHODS: PubMed and EMBASE databases were...... searched for relevant literature from January 1950 through January 2015 with study eligibility criteria: English-language publications; Adult subclinical or overt hypothyroid patients; Intervention, observational or retrospective studies; and respiratory manifestations. We followed the PRISMA statement......% of newly diagnosed patients with overt hypothyroidism, and demonstrated reversibility following treatment. The evidence for or against a direct effect on pulmonary function was ambiguous. However, each of the above mentioned areas were only dealt with in a limited number of studies. Therefore, we refrain...

  17. OPHTHALMIC MANIFESTATIONS OF LEUKEMIA

    Directory of Open Access Journals (Sweden)

    E. E. Grishina

    2016-01-01

    Full Text Available Ophthalmic manifestations of leukemia are variable and are predominantly represented by leukemic infiltration of the eye and hemodynamic abnormalities in the retinal vasculature. Leukemic infiltration of the retina should be differentiated from an inflammatory process, such as retinitis, chorioretinitis of viral or fungal origin that are not uncommon in patients with hematological malignancies. Retinal involvement is mainly seen in adult patients with acute myeloid leukemia and is less common in patients with acute lymphoblastic leukemia. Retinopathy is more frequent during relapses of the underlying disease. Also, retinopathy can be the first sign of the disease. Leukemia should be included into the list for differential diagnosis with disorders that can be associated with optical nerve edema and retinal hemorrhages. Fundus abnormalities correlate with peripheral blood parameters. Retinopathy and leukemic optic neuropathy are predictors of unfavorable prognosis. Early diagnostics and timely and adequate treatment may fully eliminate ocular symptoms and improve quality of life in patients with hemoblastoses.

  18. Genitourinary manifestations of tuberculosis.

    Science.gov (United States)

    Wise, Gilbert J; Marella, Venkata K

    2003-02-01

    By the 1980s, the availability of antituberculosis chemotherapy reduced the incidence and prevalence of tuberculosis. Changing patterns of population emigration and the development of large pools of immune-compromised individuals reversed the downward trend of tuberculosis. The incidence of genitourinary tuberculosis has remained constant. The manifestations of GU TB can be variable and cause a variety of clinical patterns that mimic other diseases. Adrenal insufficiency, renal disease, obstructive uropathy, and chronic cystitis are not uncommon with TB. The patient with TB may have genital disease that simulates STD or scrotal tumors. Infertility can be caused by GU tuberculosis. Awareness of environmental factors and patient history should alert the urologist to the wide array of clinical findings in the genitourinary system that can be caused by tuberculosis.

  19. Hepatitis C: extrahepatic manifestations.

    Science.gov (United States)

    Metts, Julius; Carmichael, Lesley; Kokor, Winfred; Scharffenberg, Robert

    2014-12-01

    Chronic hepatitis C virus (HCV) infection is associated with multiple extrahepatic manifestations (EHM) affecting various organs in the body. Approximately 40% to 75% of patients with chronic HCV infection experience at least one clinical EHM during the course of the HCV infection. Mixed cryoglobulinemia (type 2) is the most documented EHM associated with chronic HCV infection. This has been documented in up to 50% of patients. Clinically, it presents as arthralgia, weakness, and cutaneous symptoms. Morphologically, immune complex depositions are identified in small vessels and glomerular capillary walls, leading to leukocytoclastic vasculitis in the skin and membranoproliferative glomerulonephritis in the kidney. In other EHMs of chronic HCV infection not related to cryoglobulinemia, such as Sjögren syndrome, lichen planus, and autoimmune thyroiditis, autoimmune processes resulting in chronic inflammatory infiltrates are thought to be the underlying mechanism.

  20. Cutaneous Manifestations of Toxoplasmosis: a Case Report

    OpenAIRE

    2014-01-01

    Although toxoplasmosis is one of the most widely spread infections in the world, types that involve the skin are extremely rare. However, skin lesions are not specific; moreover, they are quite diverse, which makes the diagnosis of cutaneous toxoplasmosis rather difficult. Thus, differential diagnosis should include a number of other diseases. We present a case of a 43-year-old immunocompetent man with multiple livid erythematous papules and nodules with yellowish discharge that involved the ...

  1. 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

  2. Transitional Cell Carcinoma of the Bladder Manifestating as Malignant Lymphoma with Generalized Lymphadenopathy

    Directory of Open Access Journals (Sweden)

    Venkat Pavan Kancharla

    2010-04-01

    Full Text Available Bladder cancer usually spreads via the lymphatic and hematogenous routes, the most common sites of metastases of urinary bladder cancers being the regional lymph nodes, liver, lung, bone, peritoneum, pleura, kidney, adrenal gland and intestines. Generalized lymph node metastasis of transitional cell cancer of the bladder is extremely rare. According to our literature search, there has been no case report of transitional cell cancer of the bladder that manifests as an extensive large lymph node metastasis involving the intraparotid, supraclavicular thoracic inlet, axillary and regional abdominal and pelvic lymph nodes without bone or visceral organs involved. Such a presentation could be mistaken as malignant lymphoma and the importance of a biopsy of the lymph nodes is emphasized. The clinical course of rapid progression of the disease and the presence of wild-type p53 with rapid response to chemotherapy and a short remission may represent a unique case, which is discussed here.

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

    Energy Technology Data Exchange (ETDEWEB)

    Poll, L.W.; Koch, J.A.; Moedder, U. [Duesseldorf Univ. (Germany). Inst. fuer Diagnostische Radiologie; Dahl, S. vom; Haeussinger, D. [Duesseldorf Univ. (Germany). Medizinische Fakultaet; Loxtermann, E. [Heinrich Heine Univ., Duesseldorf (Germany). Dept. of Oral and Maxillofacial Surgery; Sarbia, M. [Heinrich Heine Univ., Duesseldorf (Germany). Dept. of Pathology; Niederau, C. [Department of Internal Medicine, St. Josef Hospital, Muelheimerstrasse 83, D-46045 Oberhausen (Germany)

    2000-10-01

    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.)

  4. Sarcoidosis: Oral and extra-oral manifestation

    Directory of Open Access Journals (Sweden)

    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.

  5. Silent intravascular lymphoma initially manifesting as a unilateral adrenal incidentaloma.

    Science.gov (United States)

    Takahashi, Yoshiko; Iida, Keiji; Hino, Yasuhisa; Ohara, Takeshi; Kurahashi, Toshifumi; Tashiro, Takashi; Chihara, Kazuo

    2012-01-01

    Intravascular large B-cell lymphoma (IVLBCL) is a rare subtype of malignant lymphoma. Although the involvement of adrenal glands in IVLBCL is often observed, primary adrenal IVLBCL is rare. Most reported cases of adrenal IVLBCL showed bilateral lesions resulting in rapidly progressive adrenal failure and poor prognosis. Here, we report a case of slowly progressive primary adrenal IVLBCL manifesting initially with unilateral adrenal incidentaloma. This case is a silent IVLBCL and shows that the enlargement of both adrenal glands can be followed.

  6. Opsoclonus as a manifestation of Hashimoto's encephalopathy.

    Science.gov (United States)

    Salazar, R; Mehta, C; Zaher, N; Miller, D

    2012-10-01

    We present a 59-year-old male with early manifestation of opsoclonus associated with gait ataxia as a rare clinical presentation of Hashimoto's encephalopathy. Empiric use of intravenous immunoglobulin followed by intravenous high dose methylprednisolone was initiated with subsequent remittance of opsoclonus, encephalopathy, ataxia, and tremor. Extensive workup for infectious, autoimmune, and paraneoplastic etiologies were undertaken and all studies were negative. Thyroglobulin antibodies (312 U/mL) and thyroid peroxidase antibodies (457 U/mL) were elevated (normal antibodies were retested and found to have decreased considerably. Thus, with steroid therapy, the patient's opsoclonus and encephalopathy improved. We have presented a patient with a rare case of opsoclonus as the principal presenting feature of Hashimoto's encephalopathy that was incompletely responsive to intravenous immunoglobulin and resolved with corticosteroids. This report underscores the importance for clinical practitioners to maintain a high index of suspicion for Hashimoto's encephalopathy in cases of opsoclonus, especially when accompanied by an atypical presentation.

  7. 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.

  8. Geophysical Hazards and Preventive Disaster Management of Extreme Natural Events

    Science.gov (United States)

    Ismail-Zadeh, A.; Takeuchi, K.

    2007-12-01

    Geophysical hazard is potentially damaging natural event and/or phenomenon, which may cause the loss of life or injury, property damage, social and economic disruption, or environmental degradation. Extreme natural hazards are a key manifestation of the complex hierarchical nonlinear Earth system. An understanding, accurate modeling and forecasting of the extreme hazards are most important scientific challenges. Several recent extreme natural events (e.g., 2004 Great Indian Ocean Earthquake and Tsunami and the 2005 violent Katrina hurricane) demonstrated strong coupling between solid Earth and ocean, and ocean and atmosphere. These events resulted in great humanitarian tragedies because of a weak preventive disaster management. The less often natural events occur (and the extreme events are rare by definition), the more often the disaster managers postpone the preparedness to the events. The tendency to reduce the funding for preventive disaster management of natural catastrophes is seldom follows the rules of responsible stewardship for future generations neither in developing countries nor in highly developed economies where it must be considered next to malfeasance. Protecting human life and property against earthquake disasters requires an uninterrupted chain of tasks: from (i) understanding of physics of the events, analysis and monitoring, through (ii) interpretation, modeling, hazard assessment, and prediction, to (iii) public awareness, preparedness, and preventive disaster management.

  9. Sigmoid schwannoma: A rare case

    Institute of Scientific and Technical Information of China (English)

    Constantine I. Fotiadis; Ilias A. Kouerinis; Ioannis Papandreou; George C. Zografos; George Agapitos

    2005-01-01

    Schwannomas are rare tumors derived from the cells of Schwann that form the neural sheath. When located in the gastrointestinal tract, they constitute together with leiomyoma, leiomyoblastoma, and leiomyosarcoma, the gastrointestinal stromal tumors (GIST). Peripheral nerve sheath tumors represent 2-6% GIST with most common location, the stomach and the small intestine. Schwannomas of the colon and rectum are extremely rare and radical excision with wide margins is mandatory, due to their tendency to recur locally and become malignant, if left untreated. In the present study, we report a rare case of a sigmoid schwannoma, which was successfully treated in our department and reviewed the literature.

  10. A rare case of listeriosis, acute cholecystitis and multiple myeloma.

    Science.gov (United States)

    Polanco, Thais O; Alothman, Sara; Depaz, Hector; Ramcharan, Alexius

    2016-05-11

    Listeria monocytogenes (LM) is an aerobic, motile, intracellular gram-positive bacterium. Most invasive systemic infections caused by LM are commonly seen in patients at both extremes of age, during pregnancy or in immunocompromised hosts. Common clinical manifestations of LM infection in immunocompromised adults are bacteremia, infections of central nervous system, such as meningitis, and self-limiting febrile gastroenteritis. Focal infections of listeria are rare, especially cholecystitis, with only few cases reported in the last 33 years. A 62-year-old man presented with multiple myeloma, cholecystitis and LM bacteremia. Due to prompt surgical treatment and antibiotics (amoxicillin plus clavulanic acid and gentamycin), this high-risk patient recovered without any complications.

  11. [Pleuropulmonary manifestations of amebiasis].

    Science.gov (United States)

    Mbaye, P S; Koffi, N; Camara, P; Burgel, P R; Hovette, P; Klotz, F

    1998-12-01

    Amibiasis is the third leading cause of death due to parasitic infections in the world. Amibiasis is endemic in the warm regions of the world with deficient hygiene and socio-economic situations. Entamoeba histolytica is the causal agent of invasive amibiasis, unlike Entamoeba dispar which is not a pathogen for humans. Amibian colitis and amibian abscess of the liver are the most frequent intestinal and extra-intestinal manifestations. Pleuropulmonary complications almost always occur in patients with a liver abscess, the intrathoracic contamination via transphrenic dissemination predominating. Respiratory signs are inaugural in 80% of the cases. Pleuropulmonary ambiasis designates the localization of the amibian infestation, but the clinical expression may vary: pneumonia, lung abscess, pleurisy, hepatobronchial fistulization and more infrequently pulmonary embolism. The preferential localization is the right hemithorax related to abscess in the right lobe of the liver. Left lobe abscesses lead to left-sided pleuropulmonary complications with the risk of rupture into the pericardium. Chocolate-colored pus from a pleural or abscess puncture or vomitus strongly suggests the diagnosis, which is confirmed by highly-positive serology. Metronidazole is the treatment of choice, providing cure without sequellae. In Africa, mortality and morbidity due to ambiasis are high. In Abidjan, 92% of cured patients have sequella, and mortality reaches 15%, the consequence of late diagnosis.

  12. Pulmonary manifestation of leptospirosis

    Energy Technology Data Exchange (ETDEWEB)

    Im, Jung Gi; Yeon, Kyung Mo; Han, Man Chung; Kim, Chu Wan; Lee, Jung Sang; Kim, Suhng Gwon; Han, Yong Chol; Chang, Woo Hyun; Chi, Je Geun [Seoul National University College of Medicine, Seoul (Korea, Republic of)

    1986-02-15

    Authors analysed and present chest X-ray findings of serologically proven leptospirosis from Seoul National University Hospital, either admitted or referred for serological verification, during recent 2 years. Radiological findings were correlated with the lung specimen findings of experimentally induced leptospirosis in guinea pig. The results are as follows: 1. 24 cases (56%) showed positive X-ray findings. 2. Predominant radiological patterns of involved lung were tiny dot, small nodule, rosette density in 11 cases, massive confluent consolidation in 4 cases, and diffuse ill-defined velly increased density in 9 cases. 3. Distribution of pulmonary lesions were bilateral (100%), non-lobar, non-segmental (95%), and there were conspicuous tendency of peripheral lung predominance. 4. Extrapulmonary manifestation, such as pleural effusion or cardiomegaly was rate. 5. Pulmonary lesions resolved completely usually 5 to 10 days after their appearance. 6. From the gross and microscopic findings of serially sacrificed guinea pig's lung and a case of autopsy, authors concluded that fine dot-like density in chest X-ray was due to paleolithic hemorrhage in intraalveolar space at initial stage, growing up to ressette density or confluent consolidation as the pathetic extends to surrounding lung forming purpura and coalescent hemorrhage.

  13. Gastrointestinal manifestations of endocrine disease

    Institute of Scientific and Technical Information of China (English)

    Christina Maser; Arnbjorn Toset; Sanziana Roman

    2006-01-01

    The hormonal interactions among the systems throughout the body are not fully understood; many vague clinical symptoms may in fact be manifestations of underlying endocrine diseases. The aim of the following review is to discuss gastrointestinal manifestations of surgically correctable endocrine diseases, focusing on abnormalities of thyroid function, cancer and finally autoimmune diseases. We also review manifestations of pancreatic endocrine tumors, and multiple endocrine neoplasia.

  14. [Extrahepatic manifestations in hepatitis C].

    Science.gov (United States)

    Risum, Malene

    2011-05-09

    Hepatitis C does not only affect the liver, but also manifests outside the liver. The skin, kidneys and nervous system are often involved due to mixed cryoglobulinaemia. Porphyria cutanea tarda, lymphoma and thyroid diseases among others can also attend a chronic infection, but the exact pathogenesis behind these manifestations is not clearly mapped. Antiviral treatment is reported to induce sustained virological response in more than half of the treated patients with a variable clinical response in the extrahepatic manifestations.

  15. Extreme cosmos

    CERN Document Server

    Gaensler, Bryan

    2011-01-01

    The universe is all about extremes. Space has a temperature 270°C below freezing. Stars die in catastrophic supernova explosions a billion times brighter than the Sun. A black hole can generate 10 million trillion volts of electricity. And hypergiants are stars 2 billion kilometres across, larger than the orbit of Jupiter. Extreme Cosmos provides a stunning new view of the way the Universe works, seen through the lens of extremes: the fastest, hottest, heaviest, brightest, oldest, densest and even the loudest. This is an astronomy book that not only offers amazing facts and figures but also re

  16. Extrahepatic manifestations of hepatitis C.

    Science.gov (United States)

    Palekar, Nicole A; Harrison, Stephen A

    2005-10-01

    Hepatitis C affects approximately 170 million people worldwide. Extrahepatic manifestations of chronic hepatitis C infection are clinically evident in nearly 40% of patients. Much research has been done over the last decade to better understand their incidence, clinical presentation, mechanism of disease, and the role of antiviral therapy in their treatment. Of the commonly reported manifestations, cryoglobulinemia, membranoproliferative glomerulonephritis, and porphyria cutanea tarda remain the best understood manifestations. More recently, the association of insulin resistance and diabetes mellitus with chronic hepatitis C has been demonstrated. This paper serves to review the growing body of literature detailing the extrahepatic manifestations of chronic hepatitis C.

  17. 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.)

  18. Elevated Aminotransaminases As the First Manifestation of Sarcoidosis

    Directory of Open Access Journals (Sweden)

    Georges Nawfal

    2009-01-01

    Full Text Available Sarcoidose is a rare disease in children. The aminotransaminase level is often normal to moderately elevated (2 to 3 folds of the normal level. We report the case of a child who presented an aminotransaminase level that was 10 times the normal level, as the first manifestation of sarcoidosis.

  19. Syphilitic hepatitis: an uncommon manifestation of a common disease.

    Science.gov (United States)

    Baveja, Sukriti; Garg, Shilpa; Rajdeo, Amol

    2014-03-01

    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.

  20. Coccidioidomycosis with cutaneous manifestation of erythema nodosum in Taiwan

    Directory of Open Access Journals (Sweden)

    Chien-Ming Chen

    2010-12-01

    Although coccidioidomycosis is rare in Taiwan, it is believed that the real incidence has been underestimated. Clinicians must be familiar with the typical manifestations and consider the diagnosis of coccidioidomycosis when an individual presents with fever, cough, arthralgia and skin eruptions such as erythema nodosum and/or erythema multiforme with a traveling history to the endemic area.

  1. Neurological manifestations of calcific aortic stenosis

    Directory of Open Access Journals (Sweden)

    I. V. Egorov

    2014-01-01

    Full Text Available Despite being thoroughly studied, senile aortic stenosis (AS remains a disease that is frequently underestimated by Russian clinicians. Meanwhile, its manifestations can not only deteriorate quality of life in patients, but can also be poor prognostic signs. The most common sequels of this disease include heart failure and severe arrhythmias. However, there may be also rare, but no less dangerous complications: enteric bleeding associated with common dysembriogenetic backgrounds, infarctions of various organs, the basis for which is spontaneous calcium embolism, and consciousness loss episodes. The latter are manifestations of cardiocerebral syndrome. Apart from syncope, embolic stroke may develop within this syndrome. There is evidence that after syncope occurs, life expectancy averages 3 years. Global practice is elaborating approaches to the intracardiac calcification prevention based on the rapid development of new pathogenetic ideas on this disease. In particular, it is clear that valvular calcification is extraskeletal leaflet ossification rather than commonplace impregnation with calcium salts, i.e. the case in point is the reverse of osteoporosis. This is the basis for a new concept of drug prevention of both calcification and the latter-induced heart disease. But the view of senile AS remains more than conservative in Russia. The paper describes a clinical case of a rare complication as cerebral calcium embolism and discusses the nature of neurological symptoms of the disease, such as vertigo and syncope.

  2. Respiratory manifestations in amyloidosis

    Institute of Scientific and Technical Information of China (English)

    XU Ling; CAI Bai-qiang; ZHONG Xu; ZHU Yuan-jue

    2005-01-01

    Background Amyloidosis is a collection of diseases in which different proteins are deposited. Amyloid deposits occur in systemic and organ-limited forms. In both systemic and localized forms of the disease, lung can be involved. The aim of this study was to explore the different respiratory manifestations of amyloidosis. Methods Chest radiology, clinical presentations, bronchoscopic/laryngoscopic findings and lung function data of 59 patients with amyloidosis involving respiratory tract collected during January 1986 to March 2005, were analysed.Results Of the 16 cases with localized respiratory tract amyloidosis, 8 had the lesions in the trachea and the bronchi, 2 in the larynx and the trachea, 5 in the larynx and/or the pharynx, and 1 in the lung parenchyma. Of 43 systemic amyloidosis with respiratory tract involvement, 3 had the lesions in bronchi, 13 in lung parenchyma, 33 in pleura, 8 in mediastina, 1 in nose and 1 in pharynx. Chest X-rays were normal in most cases of tracheobronchial amyloidosis. CT, unlike chest X-rays, showed irregular luminal narrowing, airway wall thickening with calcifications and soft tissue shadows in airway lumen. Localized lung parenchymal amyloidosis presented as multiple nodules. Multiple nodular opacities, patch shadows and reticular opacities were the main radiological findings in systemic amyloidosis with lung parenchymal involvement. In pleural amyloidosis, pleural effusions and pleural thickening were detected. Mediastinal and/or hilar adenopathy were also a form of lung involvement in systemic amyloidosis. The major bronchoscopic findings of tracheobronchial amyloidosis were narrowing of airway lumen, while nodular, 'tumour like' or 'bubble like' masses, with missing or vague cartilaginous rings, were detected in about half of the patients.Conclusions Localized respiratory tract amyloidosis mostly affects the trachea and the bronchi. Chest X-rays are not sensitive to detect these lesions. Systemic amyloidosis often involves

  3. Not so Rare, Rare Diseases

    Science.gov (United States)

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

    2008-01-01

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

  4. Langerhans cell histiocytosis of atlantoaxial joint in a middle-aged man presenting with deafness as first symptom and soft-tissue mass at neck showing excellent response to radiotherapy alone: Report of an extremely rare and unusual clinical condition and review of literature

    Science.gov (United States)

    Mondal, Dodul; Julka, P. K.; Jana, Manisha; Walia, Ritika; Chaudhuri, Tamojit

    2014-01-01

    Langerhans cell histiocytosis (LCH) is a disorder of clonal proliferation of dendritic cell mainly occurring in children. Spine involvement is rare. This usually presents with pain and torticollis when neck is involved. Histopathology with immunohistochemistry is confirmatory. Local curative therapy with excision or curettage is used for localized disease. Radiotherapy is usually reserved for selected cases. Systemic chemotherapy is the treatment of choice for widespread systemic disease. In this article, we present an unusual presentation of atlantoaxial LCH with mastoid involvement resulting in hearing loss as the first symptom and quadruparesis in a middle aged male patient, which was also associated with soft-tissue mass at the nape of the neck and deafness. The patient was treated with radical radiotherapy, which provided excellent response to the disease. Involvement of atlantoaxial joint and temporal bone associated with soft-tissue mass neck and deafness in a middle-aged man is an extremely rare clinical situation. PMID:25506166

  5. Hyaline fibromatosis syndrome: cutaneous manifestations*

    Science.gov (United States)

    Marques, Silvio Alencar; Stolf, Hamilton Ometto; Polizel, Juliana Ocanha; Munhoz, Tânia; Brandão, Marcela Calixto; Marques, Mariangela Esther Alencar

    2016-01-01

    Hyaline fibromatosis syndrome is the current name for clinical manifestations of diseases previously known as “infantile systemic hyalinosis” and “juvenile hyaline fibromatosis”. The authors report representative clinical cases of each one of the above subtypes with emphasis on cutaneous manifestations and difficulties for early diagnosis in this syndrome, essentially of multidisciplinary approach. PMID:27192526

  6. Cerebrovascular manifestations following scorpion sting

    OpenAIRE

    Nataraja P; Naveen Prasad SV; Obulareddy G; Anil Ch; Naveen T; Vengamma B

    2016-01-01

    Scorpion sting is a common clinical problem in Rayalaseema area of Andhra Pradesh State in India. Clilnical presentation of scorpion envenomation can range from mild local pain to systemic manifestations involving almost all systems. Cerebrovascular manifestations of scorpion sting have been sparsely documented. We report two cases who presented with ischaemic stroke and haemorrhagic stroke following scorpion sting.

  7. Neuropsychiatric manifestations of scrub typhus

    Directory of Open Access Journals (Sweden)

    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.

  8. Bilateral Spontaneous Pneumothorax, Pneumomediastinum, and Subcutaneous Emphysema: Rare and Fatal Complications of Asthma

    Directory of Open Access Journals (Sweden)

    Zeynep Karakaya

    2012-01-01

    Full Text Available Simultaneous bilateral spontaneous pneumothorax (SBSP and pneumomediastinum are complications rarely observed synchronously during an acute asthma attack. It is a clinical condition that manifests itself with serious respiratory distress and must be rapidly diagnosed and treated. Although bilateral spontaneous pneumothorax has already been reported in asthma patients in the literature, its concurrence with subcutaneous emphysema and pneumomediastinum is extremely rare except for iatrogenic conditions. By sharing this case about a 39-year-old patient who presented to the emergency room with severe respiratory distress and developed cardiopulmonary arrest during his physical examination, our aim is to emphasize that a rapid diagnosis and treatment by the emergency physicians is the only way for survival in these patients.

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

    Directory of Open Access Journals (Sweden)

    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.

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

    Directory of Open Access Journals (Sweden)

    Sriharibabu Manne

    2016-01-01

    Full Text Available 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.

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

    Science.gov (United States)

    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.

  12. Neuropsychiatric manifestations of Fahr′s disease pathogenesis and potential for treatment

    Directory of Open Access Journals (Sweden)

    Raheel Mushtaq

    2013-01-01

    Full Text Available Fahr′s disease (FD is a rare neuropsychiatric disease consisting of bilateral basal ganglia calcification with neurological, cognitive, and psychiatric manifestations. We report here a sporadic case of FDs with its neuropsychology.

  13. Neuropsychiatric manifestations of Fahr′s disease pathogenesis and potential for treatment

    OpenAIRE

    Raheel Mushtaq; Sheikh Shoib; M. S. V. K Raju; Nilesh Naphade; Tabindah Shah; Alka Pawar

    2013-01-01

    Fahr's disease (FD) is a rare neuropsychiatric disease consisting of bilateral basal ganglia calcification with neurological, cognitive, and psychiatric manifestations. We report here a sporadic case of FDs with its neuropsychology.

  14. NEUROLOGIC MANIFESTATION OF ORGANIC ACADEMIA

    Directory of Open Access Journals (Sweden)

    Seyyed Hassan TONEKABONI

    2012-03-01

    Full Text Available Inborn errors of organic acid metabolism are relatively recently recognized diseases with a wide spectrum of clinical signs and symptoms: ranging from asymptomatic, normal appearing children to death during first few days of life.In my presentation I will try to explain some of the most common clinical presentation of these disorder with stress on neurologic findings. Organic acidemia usually have three clinical manifestations Severe neonatal form, Intermittent late-onset form and chronic progressive form. Recurrent coma, The main feature of these disorders is due to accumulation of toxic metabolites in Central Nervous system with direct effect on the function, while chronic accumulation of these materials may interfere with CNS development or cerebral metabolism leading to developmental delay.Severe neonatal formsFollowing a symptom free interval of a few days from birth, poor sucking and difficult feeding appears in the newborn, followed by unexplained and progressive coma. Seizures may appear during the course of the disease and EEG may show a burst-suppression pattern. During this stage most infants have axial hypotonia with peripheral dystonia, choreoathetosis, episodic opisthotonus and some repetitive bicycling and boxing movements.Associated biochemical abnormalities including metabolic acidosis, ketonuria and hyperammonemia also is usually present. The overall short-term prognosis with recent advances in medical care is improving. But later in life acute intercurrent episodes triggered by a stress often occur, which can be occasionally fatal.bulging fontanelle and cerebral edema may mimic CNS infection in these babies.Intermittent late-onset formsRecurrent attacks of coma or lethargy with ataxia can occur in childhood or even in adolescence or adulthood. These episodes may be frequent, though in between these the child is entirely normal. These attacks are precipitated by conditions that enhance protein catabolism (trauma, infection etc

  15. Queueing networks : Rare events and fast simulations

    NARCIS (Netherlands)

    Miretskiy, D.I.

    2009-01-01

    This monograph focuses on rare events. Even though they are extremely unlikely, they can still occur and then could have significant consequences. We mainly consider rare events in queueing networks. More precisely, we are interested in the probability of collecting some large number of jobs in the

  16. A rare case of petrous apex osteoma.

    Science.gov (United States)

    Cece, Hasan; Yildiz, Sema; Iynen, Ismail; Karakas, Omer; Karakas, Ekrem; Dogan, Ferit

    2012-06-01

    Osteomas are the most common tumours of the cranial vault and facial skeleton. Temporal bone osteoma is a rare entity. An osteoma arising from the petrous apex is extremely rare. We present a case of osteoma arising from the petrous apex followed by a discussion of the etiology, presentation, and radiologic findings.

  17. Case of granulomatosis with polyangiitis (Wegener's granulomatosis) manifested with asymptomatic intracerebral hemorrhage.

    Science.gov (United States)

    Takaoka, Hirokazu; Hashimoto, Atsushi; Nogi, Shinichi; Iwata, Kanako; Futami, Hidekazu; Arinuma, Yoshiyuki; Shimada, Kota; Nakayama, Hisanori; Komiya, Akiko; Furukawa, Hiroshi; Matsui, Toshihiro; Tohma, Shigeto

    2013-01-01

    A 46-year-old man, who had had sinusitis, developed bilateral omalgia, petechiae on his lower extremities and a congested right eye. A blood test detected elevated serum C-reactive protein level. Computed tomography incidentally found an acute lesion of thalamic hemorrhage without neurological symptoms and no specific therapy was given at the time. Thereafter, he developed vertigo, vomiting and pneumonia for which antibiotics were ineffective. He was referred and admitted to our hospital. Further, aural and renal lesions, and presence of serum proteinase 3-antineutrophil cytoplasmic antibody (PR3-ANCA) confirmed his diagnosis of granulomatosis with polyangiitis (Wegener's) (GPA). With corticosteroid and cyclophosphamide therapy, his symptoms disappeared in two months along with faded PR3-ANCA. Afterward he showed neither new cerebral lesion nor symptom. This is a rare case of GPA manifested with asymptomatic intracerebral hemorrhage. It should be noted that GPA could cause various manifestations in central nervous system such as a fatal or an asymptomatic hemorrhagic lesion, which might respond to immunosuppressive therapy.

  18. Very Early-Onset Inflammatory Manifestations of X-Linked Chronic Granulomatous Disease

    Directory of Open Access Journals (Sweden)

    Roxane Labrosse

    2017-09-01

    Full Text Available Chronic granulomatous disease (CGD is a rare primary immune deficiency caused by mutations in genes coding for components of the nicotinamide adenine dinucleotide phosphate oxidase, characterized by severe and recurrent bacterial and fungal infections, together with inflammatory complications. Dysregulation of inflammatory responses are often present in this disease and may lead to granulomatous lesions, most often affecting the gastrointestinal (GI and urinary tracts. Treatment of inflammatory complications usually includes corticosteroids, whereas antimicrobial prophylaxis is used for infection prevention. Curative treatment of both infectious susceptibility and inflammatory disease can be achieved by hematopoietic stem cell transplantation. We report herein three patients with the same mutation of the CYBB gene who presented with very early-onset and severe GI manifestations of X-linked CGD. The most severely affected patient had evidence of antenatal inflammatory involvement of the GI and urinary tracts. Extreme hyperleukocytosis with eosinophilia and high inflammatory markers were observed in all three patients. A Mycobacterium avium lung infection and an unidentified fungal lung infection occurred in two patients both during their first year of life, which is indicative of the severity of the disease. All three patients underwent bone marrow transplantation and recovered fully from their initial symptoms. To our knowledge, these are the first reports of patients with such an early-onset and severe inflammatory manifestations of CGD.

  19. [Adult-onset rare diseases].

    Science.gov (United States)

    Pfliegler, György; Kovács, Erzsébet; Kovács, György; Urbán, Krisztián; Nagy, Valéria; Brúgós, Boglárka

    2014-03-01

    The present paper is focusing on rare diseases manifesting in late childhood or adulthood. A part of these syndromes are not of genetic origin, such as relatively or absolutely rare infections, autoimmune diseases, tumours, or diseases due to rare environmental toxic agents. In addition, even a large proportion of genetic disorders may develop in adulthood or may have adult forms as well, affecting are almost each medical specialization. Examples are storage disorders (e.g. adult form of Tay-Sachs disease, Gaucher-disease), enzyme deficiencies (e.g. ornithin-transcarbamylase deficiency of the urea cycle disorders), rare thrombophilias (e.g. homozygous factor V. Leiden mutation, antithrombin deficiency), or some rare monogenic disorders such as Huntington-chorea and many others. It is now generally accepted that at least half of the 6-8000 "rare diseases" belong either to the scope of adult-care (e.g. internal medicine, neurology), or to "age-neutral" specialities such as ophtalmology, dermatology etc.).

  20. Cutaneous Manifestations of Crohn Disease.

    Science.gov (United States)

    Hagen, Joshua W; Swoger, Jason M; Grandinetti, Lisa M

    2015-07-01

    Awareness of the extraintestinal manifestations of Crohn disease is increasing in dermatology and gastroenterology, with enhanced identification of entities that range from granulomatous diseases recapitulating the underlying inflammatory bowel disease to reactive conditions and associated dermatoses. In this review, the underlying etiopathology of Crohn disease is discussed, and how this mirrors certain skin manifestations that present in a subset of patients is explored. The array of extraintestinal manifestations that do not share a similar pathology, but which are often seen in association with inflammatory bowel disease, is also discussed. Treatment and pathogenetic mechanisms, where available, are discussed.

  1. Ocular manifestations of feline herpesvirus.

    Science.gov (United States)

    Andrew, S E

    2001-03-01

    Feline herpesvirus-1 (FHV-1) infection is ubiquitous in the domestic cat population worldwide. The most common clinical ocular manifestations of infection with FHV-1 are conjunctivitis and keratitis. This paper reviews the pathogenesis of feline herpesvirus-1 and discusses the various clinical ocular manifestations, diagnostic techniques and treatment of FHV-1-induced diseases. Ocular manifestations include: conjunctivitis, keratitis, stromal keratitis, keratoconjunctivitis sicca, ophthalmia neonatorium, symblepharon, corneal sequestrum, eosinophilic keratitis and anterior uveitis. Diagnostic techniques discussed include: virus isolation, fluorescent antibody testing, serum neutralising titers, ELISA and polymerase chain reaction. Various therapies are also discussed.

  2. Amyotrophic Lateral Sclerosis Presenting Respiratory Failure as the Sole Initial Manifestation

    Directory of Open Access Journals (Sweden)

    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.

  3. Altered mental status, an unusual manifestation of early disseminated Lyme disease: A case report

    OpenAIRE

    2007-01-01

    Abstract Early disseminated Lyme disease can have a myriad of central nervous system manifestations. These run the gamut from meningitis to radiculopathy and cranial neuropathy. Here we present a case that manifested with only acute mental status change in the setting of central nervous system involvement with Lyme disease. A paucity of other central nervous system manifestations is rare, especially with positive serum and cerebrospinal fluid markers. This article underscores the importance o...

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

    Directory of Open Access Journals (Sweden)

    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.

  5. Massive Bleeding as the First Clinical Manifestation of Metastatic Prostate Cancer due to Disseminated Intravascular Coagulation with Enhanced Fibrinolysis

    Science.gov (United States)

    Lopes, João Madeira; Victorino, Rui M. M.; Meneses Santos, João

    2016-01-01

    Disseminated intravascular coagulation (DIC) is the most frequent coagulation disorder associated with metastatic prostate adenocarcinoma. However, DIC with enhanced fibrinolysis as an initial presentation of prostate cancer is extremely rare. The appropriate treatment to control bleeding in these situations is challenging, controversial, and based on isolated case reports in the literature. A 66-year-old male presented at the emergency department with acute severe spontaneous ecchymoses localized to the limbs, laterocervical hematoma, and hemothorax. Prostate specific antigen level was 385 μg/L, bone scintigraphy revealed multiple bone metastases, and prostate biopsy confirmed adenocarcinoma (Gleason 9; 4 + 5). Laboratory investigation showed a pattern of enhanced fibrinolysis rather than the more common intravascular coagulation mechanism. Epsilon aminocaproic acid in monotherapy was initiated with a clear and rapid control of bleeding manifestations. This rare case of massive bleeding due to DIC with enhanced fibrinolysis as the first manifestation of prostate cancer suggests that in selected cases where the acute bleeding dyscrasia is clearly associated with a dominant fibrinolysis mechanism it is possible to use an approach of monotherapy with antifibrinolytics. PMID:27803823

  6. Renal (Kidney) Manifestations in TSC

    Science.gov (United States)

    ... International TSC Research Conference Text Size Get Involved RENAL (KIDNEY) MANIFESTATIONS IN TSC Download a PDF of ... sclerosis complex (TSC) will develop some form of renal (kidney) disease during their lifetime. There are three ...

  7. Important role of translational science in rare disease innovation, discovery, and drug development.

    Science.gov (United States)

    Pariser, Anne R; Gahl, William A

    2014-08-01

    Rare diseases play a leading role in innovation and the advancement of medical and pharmaceutical science. Most rare diseases are genetic disorders or atypical manifestations of infectious, immunologic, or oncologic diseases; they all provide opportunities to study extremes of human pathology and provide insight into both normal and aberrant physiology. Recently, drug development has become increasingly focused on classifying diseases largely on genetic grounds; this has allowed the identification of molecularly defined targets and the development of targeted therapies. Clinical trials are now focusing on progressively smaller subgroups within both common and rare disease populations, often based on genetic tests or biomarkers. Drug developers, researchers, and regulatory agencies face a variety of challenges throughout the life cycle of drug research and development for rare diseases. These include the small numbers of patients available for study, lack of knowledge of the disease's natural history, incomplete understanding of the basic mechanisms causing the disorder, and variability in disease severity, expression, and course. Traditional approaches to rare disease clinical research have not kept pace with advances in basic science, and increased attention to translational science is needed to address these challenges, especially diagnostic testing, registries, and novel trial designs.

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

    OpenAIRE

    Abhiram Chakrabarti; Manab Nandy; Dipankar Pal; Sudesna Mallik

    2014-01-01

    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 imp...

  9. Neurosarcoidosis: Clinical manifestations, diagnosis and treatment.

    Science.gov (United States)

    Nozaki, Kenkichi; Judson, Marc A

    2012-06-01

    Sarcoidosis is an idiopathic granulomatous disease affecting multiple organs. Neurosarcoidosis, involving the central and/or peripheral nervous systems, is a relatively rare form of sarcoidosis. Its clinical manifestations include cranial neuropathies, meningitis, neuroendocrinological dysfunction, hydrocephalus, seizures, neuropsychiatric symptoms, myelopathy and neuropathies. The diagnosis is problematic, especially when occurring as an isolated form without other organ involvement. Distinguishing neurosarcoidosis from other granulomatous diseases and multiple sclerosis is especially important. Although biopsy of neural tissue is the gold standard for the diagnosis of neurosarcoidosis, this is often not practical and the diagnosis must be inferred though other tests, often coupled with biopsy of extraneural organs. Corticosteroids and other immuno-suppressants are frequently used for the treatment of neurosarcoidosis. This article reviews the epidemiology, pathogenesis, pathology, clinical features, diagnosis, diagnostic tests, diagnostic criteria, and therapy of neurosarcoidosis.

  10. A review of gastrointestinal manifestations of Brucellosis

    Directory of Open Access Journals (Sweden)

    Aziz Shahid

    2005-01-01

    Full Text Available Brucellosis is hyperendemic in the Kingdom of Saudi Arabia (KSA with more than 8,000 cases reported each year to the public health authorities. The disease can affect almost any organ system in the body including the gastrointestinal system. In some instances, gastrointestinal manifestations may be the only presenting features of the disease. These range from milder complaints like diarrhea, vomiting to more serious complications like involvement of the liver, the spleen and the gallbladder to rarely life-threatening complications like colitis, pancreatitis, peritonitis and intestinal obstruction. Recognition of this type of presentation of brucellosis is important because early diagnosis and treatment usually result in complete recovery without complications

  11. Dermatologic Manifestations of Chronic Hepatitis C Infection.

    Science.gov (United States)

    Sayiner, Mehmet; Golabi, Pegah; Farhat, Freba; Younossi, Zobair M

    2017-08-01

    Chronic hepatitis C virus (HCV) infection is associated with various extrahepatic manifestations, including dermatologic involvement mostly caused by immune complexes. Mixed cryoglobulinemia has a strong relationship with HCV with 95% of these patients being infected with HCV. Lichen planus is a disease of the squamous epithelium and may affect any part of the skin, with 4% to 24% of patients with lichen planus reported to have chronic HCV infection. Porphyria cutanea tarda is the most common form of porphyria, and it is thought that HCV interferes with iron stores, which can promote porphyria cutanea tarda. Finally, necrolytic acral erythema is a rare, psoriasis-like disease closely associated with HCV. Copyright © 2017 Elsevier Inc. All rights reserved.

  12. A case of symptomatic cervical perineural (Tarlov) cyst: clinical manifestation and management.

    Science.gov (United States)

    Kim, Keewon; Chun, Se Woong; Chung, Sun G

    2012-01-01

    Perineural (Tarlov) cysts are most often found in the sacral region and are rare in the cervical spine. Although they are usually asymptomatic, a small number of those at the lumbosacral level have been known to produce localized or radicular pain. Few reports are available on symptomatic perineural cysts in the cervical spine and it has not been discussed how they should be managed. We present here a case of cervical perineural cysts with persistent radicular pain where the pain was adequately managed with repetitive transforaminal epidural steroid injection (TFESI). The patient had experienced intractable pain in the posterior neck and left upper extremity for more than 7 years. The nature of the pain was cramping and a tingling sensation, which was aggravated in the supine position. Magnetic resonance imaging revealed a perineural cyst in the neural foramen of left C7 root. The patient underwent three repetitive TFESIs targeted at the root. Each injection provided incremental relief, which lasted more than 6 months. Follow-up image revealed shrinkage of the cyst. This case illustrates in detail the clinical manifestation of a rare symptomatic perineural cyst in the cervical region and to our knowledge is the first to report the beneficial effect of repetitive TFESI.

  13. Moyamoya disease manifested as multiple simultaneous intracerebral hemorrhages: A case report and literature review

    Science.gov (United States)

    Yu, Jinlu; Yuan, Yongjie; Li, Wei; Xu, Kan

    2016-01-01

    Multiple simultaneous intracerebral hemorrhages (MSIH) caused by Moyamoya disease (MMD) is extremely rare. To date, the clinical manifestations, imaging characteristics and mechanism of MMD-induced MSIH have not yet been elucidated. In order to improve the understanding on such cases, the present study described a rare case of MSIH caused by MMD. A 40-year-old female patient with no history of hypertension or diabetes mellitus experienced a sudden headache followed by coma. Cranial computed tomography (CT) examination revealed MSIH in the left frontal area, temporal lobe and basal ganglia. CT angiography and digital subtraction angiography examinations revealed typical characteristics of MMD. Subsequent to excluding disorders of the blood system and blood coagulation, we concluded that the present case of MSIH was caused by MMD. Hematoma evacuation and decompressive craniectomy were performed with satisfactory results. In addition, after reviewing previous MSIH cases in the literature, potential mechanisms of MMD-mediated MSIH were considered. In conclusion, MMD should be considered as a possible cause of MSIH during diagnosis and treatment. MMD can lead to pathological changes in the fragility of small arteries; therefore, rupture and hemorrhage at one site may induce a transient increase in blood pressure, causing the rupture of small arteries at other sites, and thus leading to MSIH. Hematoma evacuation and decompression should be conducted in selective cases of MMD-induced MSIH in order to achieve a good prognosis. PMID:27588064

  14. Hereditary angioedema: imaging manifestations and clinical management.

    Science.gov (United States)

    Gakhal, Mandip S; Marcotte, Gregory V

    2015-02-01

    Hereditary angioedema is a genetic disorder typically related to insufficient or dysfunctional C1-esterase inhibitor. Patients present with episodic swelling of various body parts, such as the face, neck, bowel, genitals, and extremities. Acute or severe symptoms can lead to patients presenting to the emergency room, particularly when the neck and abdominopelvic regions are affected, which is often accompanied by radiologic imaging evaluation. Patients with hereditary angioedema can pose a diagnostic challenge for emergency department physicians and radiologists at initial presentation, and the correct diagnosis may be missed or delayed, due to lack of clinical awareness of the disease or lack of its consideration in the radiologic differential diagnosis. Timely diagnosis of hereditary angioedema and rapid initiation of appropriate therapy can avoid potentially life-threatening complications. This article focuses on the spectrum of common and characteristic acute imaging manifestations of hereditary angioedema and provides an update on important recent developments in its clinical management and treatment.

  15. A RARE CASE OF ACARDIAC TWIN

    OpenAIRE

    Padmaja; Nirmala,

    2015-01-01

    Fetus Acardiacus is a very rare manifestation of twin gestation . This happens due to TRAP sequence . That is Twin reversed arterial perfusion . In this case an amorphous mass was seen on a routine antenatal scan and followed as there was a live twin also . The case report highlights the importance of careful scanning and ...

  16. Hypoperfusive and hypertensive ocular manifestations in Takayasu arteritis

    Directory of Open Access Journals (Sweden)

    Jayanthi Peter

    2010-10-01

    Full Text Available Jayanthi Peter1, Sarada David1, George Joseph2, Saban Horo1, Debashish Danda31Department of Ophthalmology, Schell Eye Hospital, Vellore, India; 2Department of Cardiology, Christian Medical College Hospital, Vellore, India; 3Department of Clinical Immunology and Rheumatology, Christian Medical College Hospital, Vellore, IndiaAbstract: Takayasu arteritis is a relatively rare inflammatory arteritis that can be associated with ocular manifestations. We report four patients with proven Takayasu arteritis; two patients manifested hypoperfusive ocular manifestations of ocular ischemic syndrome and anterior ischemic optic neuropathy whilst two others had exudative retinal detachment and papilledema as a result of severe hypertension. The ischemic ocular manifestations were a result of hypoperfusion of the ocular structures due to occlusive arteritis of the aortic arch and its branches. The exudative retinal detachment and papilledema were manifestations of severe hypertension due to renal arterial involvement. Patients with Takayasu arteritis should be referred for ophthalmic assessment and screening for hypoperfusive and hypertensive manifestations.Keywords: Takayasu, retinopathy, ocular ischemic syndrome, India

  17. Autoimmune Schizophrenia? Psychiatric Manifestations of Hashimoto's Encephalitis.

    Science.gov (United States)

    Haider, Ali S; Alam, Maryam; Adetutu, Ebun; Thakur, Richa; Gottlich, Caleb; DeBacker, Danielle L; Marks, Lianne

    2016-07-05

    Hashimoto's encephalitis (HE), also known as steroid-responsive encephalopathy associated with autoimmune thyroiditis (SREAT), can be a debilitating manifestation of an autoimmune reaction against the thyroid that is often under-diagnosed primarily due to a lack of definitive diagnostic criteria. This is a case of a 52-year-old woman who has been diagnosed with HE after presenting with recurrent and severe psychosis in conjunction with paranoia and a thyroidopathy. Her symptoms are chronic, having first been documented as presenting 15 years prior and showing progressive exacerbation in both frequency and severity. The patient's paranoia often manifested as delusions involving family members or close friends and consequently introduced an opportunity for harm to herself and others. She showed great conviction with self-diagnoses that were proven incorrect, resulting in occasional non-compliance. Between episodes, the patient did not show evidence of symptoms. This patient struggled with several incorrect diagnoses and treatments for several years before the correct diagnosis of HE was made and displayed extreme improvement upon corticosteroid administration. This case illustrates the importance of increasing awareness of HE as well as including HE in a differential diagnosis when any patient presents with psychosis and concurrent thyroidopathy. Hashimoto's encephalitis follows putative characteristics of autoimmune diseases, exhibiting a higher incidence in women as compared to men, presenting with increased titers of autoantibodies, and showing dramatic amelioration when treated with corticosteroids.

  18. The Manifestly Gauge Invariant Exact Renormalisation Group

    CERN Document Server

    Rosten, O J

    2005-01-01

    We construct a manifestly gauge invariant Exact Renormalisation Group (ERG) whose form is suitable for computation in SU(N) Yang-Mills theory, beyond one-loop. An effective cutoff is implemented by embedding the physical SU(N) theory in a spontaneously broken SU(N|N) Yang-Mills theory. To facilitate computations within this scheme, which proceed at every step without fixing the gauge, we develop a set of diagrammatic techniques. As an initial test of the formalism, the one-loop SU(N) Yang-Mills beta-function, beta_1, is computed, and the standard, universal answer is reproduced. It is recognised that the computational technique can be greatly simplified. Using these simplifications, a partial proof is given that, to all orders in perturbation theory, the explicit dependence of perturbative $\\beta$-function coefficients, beta_n, on certain non-universal elements of the manifestly gauge invariant ERG cancels out. This partial proof yields an extremely compact, diagrammatic form for the surviving contributions t...

  19. A CLINICAL STUDY OF MUCOCUTANEOUS MANIFESTATIONS OF HIV

    Directory of Open Access Journals (Sweden)

    Murugesh

    2014-09-01

    Full Text Available BACKGROUND AND OBJECTIVES: Mucocutaneous manifestations are extremely common and varied in HIV infected patients. The present study was done to know the overall prevalence of mucocutaneous manifestations in HIV infected patients and to know the frequency of individual manifestations. METHODS: A total of 150 HIV seropositive patients from voluntary counseling and testing center were included in the study. Detailed history, thorough physical examination and relevant investigations were done to confirm the mucocutaneous manifestations when present. RESULTS: Ninety two percent (92% of 150 positives had mucocutaneous manifestations at presentation. Majority (75.34% of the patients belonged to the age group 25 – 49 years and male to female ratio was 1.08:1. Oral candidiasis was the most common (33.33% manifestation. Other common infectious conditions seen were HSV (16.67% dermatophytosis (12.67%, genital candidiasis (9.33%, herpes genitalis (10%. Common non-infectious disorders included generalized xerosis and ichthyosis (14.66%, generalized hyperpigmentation (11.33% and seborrheic dermatitis (6.67%. Hair and nail changes included diffuse alopecia (18%, trichomegaly (6.67% and melanonychia (32%.Pruritic papular dermatitis was seen in 16%. INTERPRETATION AND CONCLUSION: This study thus emphasizes the need for dermatological evaluation of all patients with HIV infection for early management and improved quality of life.

  20. Os Odontoideum: Rare Cervical Lesion

    Directory of Open Access Journals (Sweden)

    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.

  1. Convulsions as primary manifestation of nutritional rickets

    Directory of Open Access Journals (Sweden)

    B.P. Karunakara

    2013-07-01

    Full Text Available Introduction: Rickets is diagnosed based on classical clinical features like craniotabes, rachitic rosary, widening of wrist joints, pot belly, hypotonia, bowed legs and supported by the laboratory evidence of hypocalcemia, hypophosphatemia, and raised alkaline phosphatase. Hypocalcemic convulsions are a rare manifestation of nutritional rickets. Decline in the magnitude of the rickets requires high index of suspicion to identify this treatable condition. Herewith presenting retrospective study of twelve cases of rickets who presented with hypocalcemic seizures as primary manifestation. Materials and methods: A detailed retrospective analysis of diagnosed cases of rickets presenting with convulsions was done. Children who were admitted with hypocalcemic convulsion and subsequently diagnosed to have rickets were included in the study. Children who did not fulfill the criteria for diagnosis of rickets either clinically or biochemically or radiologically were excluded from the study. Details including age at presentation, weight, sex, gestational age and other associated diseases were collected and analyzed. Rickets was diagnosed on the basis of clinical features, biochemical parameters (serum calcium, phosphorous, alkaline phosphatase and radiological findings. Results: A Total of 12 children; 8 male and 4 females constituted the study subjects. Mean age of presentation was 6 months. All children had presented with preceding convulsions or active convulsions. One child who presented with active convulsions was treated with parenteral phenobarbitone. All 12 of them were evaluated for the cause and found to have hypocalcemia without any other cause for convulsions. Further clinical examination revealed features of rickets and were subjected to radiological and biochemical investigations. The mean calcium value was 6.3mg/dl, phosphorus -5.35mg/dl, alkaline phosphatase-890.13 units. All the cases had radiological features of rickets. All 12 were

  2. Cutaneous manifestations of human toxocariasis.

    Science.gov (United States)

    Gavignet, Béatrice; Piarroux, Renaud; Aubin, François; Millon, Laurence; Humbert, Philippe

    2008-12-01

    Human toxocariasis is a parasitic disease characterized by the presence of larvae of the genus Toxocara in human tissues. T canis and T cati, the adult roundworms of which are found in dog and cat intestines, respectively, are the most common causative agents of the disease. Toxocaral larvae usually cause two severe syndromes: visceral larva migrans and ocular larva migrans, depending on the location of the larvae. Two other syndromes, covert toxocariasis and common toxocariasis, which are less typical and not as severe, have also been described. During the last two decades, cutaneous manifestations such as chronic urticaria, chronic pruritus, and miscellaneous eczema, in patients with Toxocara antibodies, have been studied by different authors. In some cases, these cutaneous manifestations are the only signs indicating the presence of the disease, and they are cured after antihelmintic treatment when there is good patient compliance. In this review, we focus on these particular skin manifestations regarding their clinical description, diagnosis, and treatment.

  3. [Cardiovascular manifestations of human toxocariasis].

    Science.gov (United States)

    Bolívar-Mejía, Adrián; Rodríguez-Morales, Alfonso J; Paniz-Mondolfi, Alberto E; Delgado, Olinda

    2013-01-01

    Toxocariasis is a parasitic infection produced by helminths that cannot reach their adult stage in humans. For their etiological species (Toxocara canis and Toxocara cati), man is a paratenic host. Infection by such helminths can produce a variety of clinical manifestations, such as: visceral larvae migrans syndrome, ocular larvae migrans syndrome and covert toxocariasis. In the visceral larvae migrans syndrome, the organs that are mainly involved include liver, lungs, skin, nervous system, muscles, kidneys and the heart. Regarding the latter, the importance of cardiovascular manifestations in toxocariasis, as well as its clinical relevance, has increasingly begun to be recognized. The current article is based on a systematic information search, focused mainly on the clinical and pathological aspects of cardiovascular manifestations in toxocariasis, including its pathophysiology, laboratory findings, diagnosis and therapeutical options, with the objective of highlighting its importance as a zoonosis and its relevance to the fields of cardiovascular medicine in adults and children.

  4. RHEUMATIC MANIFESTATIONS IN VIRAL HEPATITIS

    Directory of Open Access Journals (Sweden)

    L P Anan'eva

    2008-01-01

    Full Text Available Autoimmune reactions are of primary importance in the development of extrahepatic manifestations of viral hepatitis, among which there are rheumatic symptoms and syndromes. The incidence of clinically significant extrahepatic manifestations is shown to be relatively low, but they may be in the foreground in the clinical picture of the disease and are noted for severity. It is concluded that due to the high prevalence of hepatitis and the systemic pattern of their chronic forms, patients with extrahepatic manifestations of viral hepatitis may be encountered in the practice of a therapist and a rheumatologist. The onset of the infection caused by hepatitis viruses may be accompanied by articular lesion therefore the rheumatologist may be the first physician such a patient may resort to.

  5. RHEUMATIC MANIFESTATIONS IN VIRAL HEPATITIS

    Directory of Open Access Journals (Sweden)

    L P Anan'eva

    2008-12-01

    Full Text Available Autoimmune reactions are of primary importance in the development of extrahepatic manifestations of viral hepatitis, among which there are rheumatic symptoms and syndromes. The incidence of clinically significant extrahepatic manifestations is shown to be relatively low, but they may be in the foreground in the clinical picture of the disease and are noted for severity. It is concluded that due to the high prevalence of hepatitis and the systemic pattern of their chronic forms, patients with extrahepatic manifestations of viral hepatitis may be encountered in the practice of a therapist and a rheumatologist. The onset of the infection caused by hepatitis viruses may be accompanied by articular lesion therefore the rheumatologist may be the first physician such a patient may resort to.

  6. Cutaneous manifestations of viral hepatitis.

    Science.gov (United States)

    Akhter, Ahmed; Said, Adnan

    2015-02-01

    There are several extrahepatic cutaneous manifestations associated with hepatitis B and hepatitis C virus infection. Serum sickness and polyarteritis nodosa are predominantly associated with hepatitis B infection, whereas mixed cryoglobulinemia associated vasculitis and porphyria cutanea tarda are more frequently seen in hepatitis C infection. The clinico-pathogenic associations of these skin conditions are not completely defined but appear to involve activation of the host immune system including the complement system. Management of the aforementioned cutaneous manifestations of viral hepatitis is often similar to that done in cases without viral hepatitis, with control of immune activation being a key strategy. In cases associated with hepatitis B and C, control of viral replication with specific antiviral therapy is also important and associated with improvement in most of the associated clinical manifestations.

  7. Silent Intravascular Lymphoma Initially Manifesting as a Unilateral Adrenal Incidentaloma

    Directory of Open Access Journals (Sweden)

    Yoshiko Takahashi

    2012-01-01

    Full Text Available Intravascular large B-cell lymphoma (IVLBCL is a rare subtype of malignant lymphoma. Although the involvement of adrenal glands in IVLBCL is often observed, primary adrenal IVLBCL is rare. Most reported cases of adrenal IVLBCL showed bilateral lesions resulting in rapidly progressive adrenal failure and poor prognosis. Here, we report a case of slowly progressive primary adrenal IVLBCL manifesting initially with unilateral adrenal incidentaloma. This case is a silent IVLBCL and shows that the enlargement of both adrenal glands can be followed.

  8. Disabling pansclerotic morphea of childhood with extracutaneous manifestations

    Directory of Open Access Journals (Sweden)

    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.

  9. Medulloblastoma manifesting as sudden sensorineural hearing loss.

    Science.gov (United States)

    Terakawa, Yuzo; Tsuyuguchi, Naohiro; Takami, Toshihiro; Ohata, Kenji

    2011-07-01

    We present a rare case of medulloblastoma which presented with unilateral sudden sensorineural hearing loss as an initial symptom. A 19-year-old man was admitted to our hospital with a chief complaint of dizziness and facial numbness on the right side. His illness had begun two years previously with sudden hearing loss on the right side, for which he had been treated as an idiopathic sudden hearing loss. Magnetic resonance imaging demonstrated abnormal signals located mainly in the right middle cerebellar peduncle. We performed partial resection of the tumor by suboccipital craniotomy. The histopathological diagnosis was medulloblastoma. Intrinsic brain tumor is an extremely rare cause of sudden sensorineural hearing loss and is therefore easily overlooked as was in the present case. The present case highlights not only the need to evaluate patients with sudden sensorineural hearing loss by magnetic resonance imaging but also the importance of paying attention to intrinsic lesions involving the brainstem. Although this condition like the presented case might be rare, intrinsic brain tumor should be considered as a potential cause of sudden sensorineural hearing loss, as it may be easily missed leading to a delay in appropriate treatment.

  10. [Subcutaneous sarcoidosis as the first manifestation of systemic disease].

    Science.gov (United States)

    Calzado, Leticia; Galera, Carmen María; Arrue, Itziar; Rodríguez-Peralto, José L; López, Sara; Guerra, Aurora; Vanaclocha, Francisco

    2005-01-01

    There are dermatological symptoms in up to 25% of patients with sarcoidosis, and the appearance of specific subcutaneous nodules as a manifestation of this entity is rare. They may even predate other manifestations of sarcoidosis. We present the case of a 38-year-old woman with asymptomatic subcutaneous nodules in the limbs, which corresponded to deep sarcoid granulomas in the histological study. She did not present with any extracutaneous indications. The imaging tests performed revealed right paratracheal adenopathies. This led to the diagnosis of sarcoidosis, in both its subcutaneous and pulmonary forms (stage I). Subcutaneous sarcoidosis is probably an underdiagnosed entity, as fewer than 40 cases are reflected in literature. Its value lies in the fact that it may be the first manifestation of extracutaneous or systemic sarcoidosis, which means that this form of sarcoidosis must be considered in the differential diagnosis of subcutaneous nodular lesions; close follow-up of these patients is also necessary.

  11. Quantum manifestations of Nekhoroshev stability

    Energy Technology Data Exchange (ETDEWEB)

    Fontanari, Daniele, E-mail: fontanari@purple.univ-littoral.fr [Département de physique, Université du Littoral – Côte d' Opale, 59140 Dunkerque (France); Fassò, Francesco, E-mail: fasso@math.unipd.it [Università di Padova, Dipartimento di Matematica, Via Trieste 63, Padova 35121 (Italy); Sadovskií, Dmitrií A., E-mail: sadovski@univ-littoral.fr [Département de physique, Université du Littoral – Côte d' Opale, 59140 Dunkerque (France)

    2016-09-16

    We uncover quantum manifestations of classical Nekhoroshev theory of resonant dynamics using a simple quantum system of two coupled angular momenta with conserved equal magnitudes which corresponds to a perturbed classical integrable anisochronous Hamiltonian system. - Highlights: • Basic quantum manifestations of classical Nekhoroshev theory are studied. • A simple anisochronous convex system with two degrees of freedom is proposed. • Zones are uncovered in the joint expectation value spectrum of quantized actions. • The width of the zones is given by the Nekhoroshev resonant normal forms.

  12. Cutaneous manifestations in celiac disease

    Institute of Scientific and Technical Information of China (English)

    L Abenavoli; G Addolorato; I Proietti; L Leggio; A Ferrulli; L Vonghia; R Capizzi; M Rotoli; PL Amerio; G Gasbarrini

    2006-01-01

    Celiac disease (CD) is an autoimmune gluten-dependent enteropathy characterized by atrophy of intestinal villi that improves after gluten-free diet (GFD). CD is often associated with extra-intestinal manifestations;among them, several skin diseases are described in CD patients. The present review reports all CD-associated skin manifestations described in the literature and tries to analyze the possible mechanisms involved in this association. The opportunity to evaluate the possible presence of CD in patients affected by skin disorders is discussed.

  13. Dermatologic Manifestations of Systemic Diseases.

    Science.gov (United States)

    Valdez, Maryn Anne; Isamah, Nwamaka; Northway, Rebecca M

    2015-12-01

    Dermatologic complaints are encountered frequently by the primary care provider. Patients often are required as well as want to see their primary care provider before referral to a specialist. Therefore, primary care providers must be skilled in a variety of topics including dermatology. Certain dermatologic manifestations are associated with, or indicative of, systemic diseases. Primary care providers must be knowledgeable in diagnosis, evaluation, and treatment of dermatologic conditions, as well as when to appropriately refer. This article reviews common dermatologic manifestations of systemic diseases. Copyright © 2015 Elsevier Inc. All rights reserved.

  14. Altered mental status, an unusual manifestation of early disseminated Lyme disease: A case report

    Science.gov (United States)

    Chabria, Shiven B; Lawrason, Jock

    2007-01-01

    Early disseminated Lyme disease can have a myriad of central nervous system manifestations. These run the gamut from meningitis to radiculopathy and cranial neuropathy. Here we present a case that manifested with only acute mental status change in the setting of central nervous system involvement with Lyme disease. A paucity of other central nervous system manifestations is rare, especially with positive serum and cerebrospinal fluid markers. This article underscores the importance of a high index of clinical suspicion in detection of Lyme disease related manifestations in endemic areas. PMID:17688693

  15. Altered mental status, an unusual manifestation of early disseminated Lyme disease: A case report

    Directory of Open Access Journals (Sweden)

    Chabria Shiven B

    2007-08-01

    Full Text Available Abstract Early disseminated Lyme disease can have a myriad of central nervous system manifestations. These run the gamut from meningitis to radiculopathy and cranial neuropathy. Here we present a case that manifested with only acute mental status change in the setting of central nervous system involvement with Lyme disease. A paucity of other central nervous system manifestations is rare, especially with positive serum and cerebrospinal fluid markers. This article underscores the importance of a high index of clinical suspicion in detection of Lyme disease related manifestations in endemic areas.

  16. Acute myocardial/cerebral infarction as first/relapse manifestation in one acute promyelocytic leukemia patient.

    Science.gov (United States)

    Li, Ying; Suo, Shanshan; Mao, Liping; Wang, Lei; Yang, Chunmei; Xu, Weilai; Lou, Yinjun; Mai, Wenyuan

    2015-01-01

    In the clinical setting, bleeding is a common manifestation of acute promyelocytic leukemia (APL), whereas thrombosis is relatively rare, especially as an initial symptom. Here, we report an unusual case of APL with acute myocardial infarction as the first manifestation and cerebral infarction as the relapse manifestation in a healthy young woman. This unique case emphasizes that a thrombotic event could be the first manifestation of an underlying hematological disorder such as APL and could also be a sign of relapse. Rapid detection of the underlying disorder and the timely use of anticoagulation therapy and ATRA are crucial for preventing further deterioration of the disease and saving the patient's life.

  17. Extremism from the perspective of a system approach

    Directory of Open Access Journals (Sweden)

    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.

  18. Biochemical Manifestation of HIV Lipodystrophy Syndrome

    Directory of Open Access Journals (Sweden)

    Kenneth Ihenetu, PhD

    2012-11-01

    Full Text Available Objectives: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.Methods: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.Results: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.Conclusions and Public Health Implications: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.

  19. First clinical manifestation of Brugada syndrome during pregnancy.

    Science.gov (United States)

    Prochnau, Dirk; Figulla, Hans R; Surber, Ralf

    2013-09-01

    The role of hormonal changes during pregnancy in Brugada syndrome is unknown. Only rare case reports of Brugada syndrome during pregnancy have been published. In this article, we describe a patient with first clinical manifestation of Brugada syndrome during pregnancy. The definitive diagnosis could only be achieved by drug challenge with ajmaline after childbirth because the spontaneous typical Brugada-like pattern was absent. Elevated hormone levels during pregnancy may increase the risk for arrhythmias in particular cases.

  20. Syphilitic hepatitis: An uncommon manifestation of a common disease

    Directory of Open Access Journals (Sweden)

    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.

  1. Chondroectodermal dysplasia: a rare syndrome.

    Directory of Open Access Journals (Sweden)

    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.

  2. Diphtheria rare localization in adults

    Directory of Open Access Journals (Sweden)

    Yu. I. Liashenko

    2011-01-01

    Full Text Available Last 25 years in the country established sporadic diphtheria morbidity (less than 0.1 per 100 000 people. In this situation, the attention of medical specialists pre-hospital and hospital health care system is reduced, especially for diseases with a rare localization of pathological process. Mentioned circumstances contribute to delayed diagnosis and treatment of his patients, the major cause of complicated infection, often its unfavorable outcome and a factor of the epidemic of trouble for the infection. The authors present material evidence that the rare forms of diphtheria in the period of sporadic disease in much the same as in the epidemic, and describe the clinical manifestations and course of diphtheria of the nose, eyes, throat, genitals, mouth and gastrointestinal tract in modern conditions.

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

    Directory of Open Access Journals (Sweden)

    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.

  4. Pulmonary manifestations of Sjögren's syndrome.

    Science.gov (United States)

    Flament, Thomas; Bigot, Adrien; Chaigne, Benjamin; Henique, Helene; Diot, Elisabeth; Marchand-Adam, Sylvain

    2016-06-01

    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.

  5. Pulmonary manifestations of Sjögren's syndrome

    Directory of Open Access Journals (Sweden)

    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.

  6. Catastrophic antiphospholipid syndrome with concurrent thrombotic and hemorrhagic manifestations.

    Science.gov (United States)

    Rangel, M L; Alghamdi, I; Contreras, G; Harrington, T; Thomas, D B; Barisoni, L; Andrews, D; Wolf, M; Asif, A; Nayer, A

    2013-07-01

    Antiphospholipid syndrome (APS) is a distinct autoimmune prothrombotic disorder due to pathogenic autoantibodies directed against proteins that bind to phospholipids. APS is characterized by arterial and venous thrombosis and their clinical sequelae. Catastrophic antiphospholipid syndrome (CAPS) is a rare and often fatal form of APS characterized by disseminated intravascular thrombosis and ischemic injury resulting in multiorgan failure. Rarely, intravascular thrombosis in CAPS is accompanied by hemorrhagic manifestations such as diffuse alveolar hemorrhage. Here, we report a 43-year-old woman who presented with anemia, acute gastroenteritis, abnormal liver function tests, bilateral pulmonary infiltrates, and a systemic inflammatory response syndrome. The patient developed respiratory failure as a result of diffuse alveolar hemorrhage followed by acute renal failure. Laboratory tests disclosed hematuria, proteinuria, and reduced platelet count. Microbiologic tests were negative. A renal biopsy demonstrated acute thrombotic microangiopathy and extensive interstitial hemorrhage. Serologic tests disclosed antinuclear antibodies and reduced serum complement C4 concentration. Coagulation studies revealed the lupus anticoagulant and autoantibodies against cardiolipin, beta 2-glycoprotein I, and prothrombin. High-dose glucocorticoids and plasma exchange resulted in rapid resolution of pulmonary, renal, and hematological manifestations. This rare case emphasizes that CAPS can present with concurrent thrombotic and hemorrhagic manifestations. Rapid diagnosis and treatment may result in complete recovery.

  7. Cardiac Manifestation in Dengue Fever.

    Science.gov (United States)

    Arora, Mohit; Patil, Rekha S

    2016-07-01

    To study the cardiac manifestations of the dengue fever. This one year descriptive study was undertaken at KLES Dr. Prabhakar Kore Hospital and Medical Research Centre, Belgaum under the Department of Medicine. A total of 120 patients with either dengue IgM or IgM and IgG were studied. The assessment of cardiac manifestations was done based on electrocardiogram, 2D echocardiography and cardiac enzymes. Of the 120 patients, 85 (70.83%) were males and the male to female ratio was 2.4:1. The mean age of the patients was 33.02 ± 12.71 years. The commonest clinical presentation was myalgia (97.5%) followed by fever (92.5%). On clinical examination 33.33% of the patients had petecheia and only 9 patients having active bleeding manifestation at the time of presentation. A raised CK-MB and Troponin I was observed in 33.3% and 26.7% patients ECG findings revealed normal rhythm among 95% with 15.8% of them having an abnormal heart rate. Rhythm disturbance was noted in 5% of the patients with AV block being the most common (66.67%). Cardiac manifestation in the form of myocarditis was observed in 37.50% of the patients with a positive correlation with the severity of the dengue fever defined as by W.H.O. criteria. Patients with dengue fever are at high risk of developing myocarditis and rhythm disturbance and therefore require a close cardiac monitoring.

  8. Neurological Manifestations of Takayasu Arteritis

    Institute of Scientific and Technical Information of China (English)

    Li-xin Zhou; Jun Ni; Shan Gao; Bin Peng; Li-ying Cui

    2011-01-01

    Objective To investigate the clinical neurological manifestations of Takayasu arteritis (TA).Methods A retrospective study was conducted with 63 consecutive TA cases admitted to Peking Union Medical College Hospital from January 2009 to May 2010.All the patients fulfilled the diagnostic criteria of TA by the American College of Rheumatology.Among the 63 TA patients,27 with neurological manifestations were included in the present study.All the patients were evaluated using standardized neurological examination,sonography,computed tomography (CT) angiography,and cerebral CT or magnetic resonance imaging.Results Dizziness and visual disturbance were the most common symptoms,which occurred in 20 (74.1%) and 16 (59.3%) patients respectively.Another common symptom was headache,observed in 15 (55.6%) patients.Six (22.2%) patients had suffered from ischemic stroke; 7 (25.9%) patients had epileptic seizures.Two (7.4%) patients were diagnosed as reversible posterior encephalopathy syndrome (RPES) based on typical clinical and imaging manifestations.Conclusions Neurological manifestations are common symptoms in TA patients in the chronic phase,including dizziness,visual disturbance,headache,ischemic stroke,seizures,and some unusual ones such as RPES.We suggested RPES be included into the differential diagnosis of acute neurological changes in TA.

  9. Mucocutaneous manifestations of Cowden's syndrome

    Directory of Open Access Journals (Sweden)

    Kundoor Vinay Kumar Reddy

    2016-01-01

    Full Text Available Cowden's syndrome is an autosomal dominant genodermatosis with variable orofacial and systemic manifestations. Here we present one such classical case of Cowden's syndrome in a 45-year-old female patient with features such as multiple cutaneous papillomatosis, oral fibromas, and fibromas involving multiple organs such as gastrointestinal tract (multiple polyps, thyroid disorders, and breast cancer.

  10. Parasitic Diseases With Cutaneous Manifestations.

    Science.gov (United States)

    Ash, Mark M; Phillips, Charles M

    2016-01-01

    Parasitic diseases result in a significant global health burden. While often thought to be isolated to returning travelers, parasitic diseases can also be acquired locally in the United States. Therefore, clinicians must be aware of the cutaneous manifestations of parasitic diseases to allow for prompt recognition, effective management, and subsequent mitigation of complications. This commentary also reviews pharmacologic treatment options for several common diseases.

  11. Guillain Barre syndrome as a manifestation of neurological melioidosis

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    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.

  12. 40 CFR 262.21 - Manifest tracking numbers, manifest printing, and obtaining manifests.

    Science.gov (United States)

    2010-07-01

    ... AGENCY (CONTINUED) SOLID WASTES (CONTINUED) STANDARDS APPLICABLE TO GENERATORS OF HAZARDOUS WASTE The... paragraph (c) of this section, EPA will provide the registrant an electronic file of the manifest... for Transporters” on Copy 5; and (C) The “Instructions for Treatment, Storage, and Disposal...

  13. Camurati-Engelmann disease-a rare cause of tetany identified on bone scintigraphy: A case report.

    Science.gov (United States)

    Xie, Peng; Huang, Jian-Min; Li, Huan-Li; Huang, Xiao-Jie; Wei, Ling-Ge

    2017-07-01

    Camurati-Engelmann disease (i.e., progressive diaphyseal dysplasia) is an extremely rare autosomal dominant bone disorder. The most common clinical manifestations were chronic skeletal pain, waddling gait, muscular weakness. We described that a 27-year-old male with a 1-year history of intermittent tetany was referred for bone scintigraphy. The whole body bone scan images showed abnormal increased uptake of the tracer in the long bones of the upper and lower extremities as well as in the skull. Combined the family history, the findings of the images and the genetic study, the diagnosis of Camurati-Engelmann disease was confirmed. The patient responded well to the treatment of calcium gluconate. Bone scintigraphy would be helpful in the diagnosis and assessing the severity of Camurati-Engelmann disease.

  14. Lower extremity compartment sindrome following coronary artery bypass.

    Science.gov (United States)

    Papas, T T; Mikroulis, D; Papanas, N; Lazarides, M K; Bougioukas, G

    2007-04-01

    Compartment syndrome is a constellation of symptoms and signs associated with abnormally elevated tissue pressure in the skeletal muscle of the extremities. It is manifested in anatomic locations where muscles are enveloped in fasciae. The case of a lower extremity compartment syndrome in a 71-year-old male patient who underwent coronary artery bypass grafting (CABG) and simultaneous aortic valve surgery is reported. Preoperative evaluation revealed severe peripheral vascular disease. The patient underwent triple CABG using the left internal thoracic artery and two vein grafts. The right great saphenous vein was used for these vein grafts. The aortic valve was replaced with a biologic prosthesis. On postoperative day 1, the patient complained of pain and oedema in the right calf. The next day, symptoms worsened, with marked sensory loss, motor weakness and foot drop in the affected limb. Triplex ultrasonography excluded deep vein thrombosis. Compartment syndrome was diagnosed and successfully managed by fasciotomy. This case illustrates that compartment syndrome may, although rarely, be a complication of CABG.

  15. Interpretation of Extreme Scattering Events

    CERN Document Server

    Walker, M A

    2000-01-01

    Extreme Scattering Events are sometimes manifest in the light-curves of compact radio-quasars at frequencies of a few GHz. These events are not understood. The model which appears to offer the best explanation requires a new population of AU-sized, neutral gas clouds; these clouds would then make up a large fraction of the Galaxy's dark matter. Independent of the question of which theoretical model is correct, if we extrapolate the observed behaviour to low radio-frequencies, we expect that the sky should be criss-crossed by a network of narrow caustics, at frequencies below about 700 MHz. Consequently at these frequencies sources should typically manifest additional, faint images which are substantially delayed with respect to the primary image. Although some examples of this type of behaviour are already known, it is expected that these are just the tip of the iceberg, with strong selection biases having been imposed by the instrumentation employed to date.

  16. Albright hereditary osteodystrophy: A rare case report

    Directory of Open Access Journals (Sweden)

    Goswami M

    2009-09-01

    Full Text Available Albright hereditary osteodystrophy (AHO is a rare hereditary metabolic disorder that may be associated with or without resistant to parathyroid hormone (pseudohypoparathyroidism. It is commonly characterized by a constellation of physical features of short stature, round face, short neck, and small metacarpals and metatarsals, mild mental retardation, osteoporosis, subcutaneous calcification, and sometimes olfactory and hearing functional defect. Hypocalcaemia and hyperphosphatemia are the most important manifestations of the case. We report a clinical case of siblings with AHO with reduced Gs-alpha activity and we discuss their clinical features with oral manifestations, radiographic findings, laboratory tests along with treatment.

  17. Rare Earth Market Review

    Institute of Scientific and Technical Information of China (English)

    2008-01-01

    @@ Oversupply of rare earths led to the significant price drop of rare earth mineral products and separated products in Chinese domestic market. To stabilize the price, prevent waste of resources, further improve regulation capability on domestic rare earth market and rare earth price and maintain sustaining and healthy development of rare earth industry, partial rare earth producers in Baotou and Jiangxi province projected to cease the production for one month.

  18. Cardiopulmonary Manifestations of Ankylosing Spondylitis

    Science.gov (United States)

    Momeni, Mahnaz; Taylor, Nora; Tehrani, Mahsa

    2011-01-01

    Ankylosing spondylitis is a chronic inflammatory condition that usually affects young men. Cardiac dysfunction and pulmonary disease are well-known and commonly reported extra-articular manifestation, associated with ankylosing spondylitis (AS). AS has also been reported to be specifically associated with aortitis, aortic valve diseases, conduction disturbances, cardiomyopathy and ischemic heart disease. The pulmonary manifestations of the disease include fibrosis of the upper lobes, interstitial lung disease, ventilatory impairment due to chest wall restriction, sleep apnea, and spontaneous pneumothorax. They are many reports detailing pathophysiology, hypothesized mechanisms leading to these derangements, and estimated prevalence of such findings in the AS populations. At this time, there are no clear guidelines regarding a stepwise approach to screen these patients for cardiovascular and pulmonary complications. PMID:21547038

  19. Unusual clinical manifestations of leptospirosis

    Directory of Open Access Journals (Sweden)

    Bal A

    2005-01-01

    Full Text Available Leptospirosis has protean clinical manifestations. The classical presentation of the disease is an acute biphasic febrile illness with or without jaundice. Unusual clinical manifestations may result from involvement of pulmonary, cardiovascular, neural, gastrointestinal, ocular and other systems. Immunological phenomena secondary to antigenic mimicry may also be an important component of many clinical features and may be responsible for reactive arthritis. Leptospirosis in early pregnancy may lead to fetal loss. There are a few reports of leptospirosis in HIV- infected individuals but no generalisation can be made due to paucity of data. It is important to bear in mind that leptospiral illness may be a significant component in cases of dual infections or in simultaneous infections with more than two pathogens.

  20. Digestive manifestations of parathyroid disorders

    Institute of Scientific and Technical Information of China (English)

    Bassam Abboud; Ronald Daher; Joe Boujaoude

    2011-01-01

    The parathyroid glands are the main regulator of plasma calcium and have a direct influence on the digestive tract. Parathyroid disturbances often result in unknown long-standing symptoms. The main manifestation of hypoparathyroidism is steatorrhea due to a deficit in exocrine pancreas secretion. The association with celiac sprue may contribute to malabsorption. Hyperparathyroidism causes smooth-muscle atony, with upper and lower gastrointestinal symptoms such as nausea, heartburn and constipation. Hyperparathyroidism and peptic ulcer were strongly linked before the advent of proton pump inhibitors. Nowadays, this association remains likely only in the particular context of multiple endocrine neoplasia type 1/Zollinger-Ellison syndrome. In contrast to chronic pancreatitis, acute pancreatitis due to primary hyperparathyroidism is one of the most studied topics. The causative effect of high calcium level is confirmed and the distinction from secondary hyperparathyroidism is mandatory. The digestive manifestations of parathyroid malfunction are often overlooked and serum calcium level must be included in the routine workup for abdominal symptoms.

  1. Cardiopulmonary Manifestations of Ankylosing Spondylitis

    Directory of Open Access Journals (Sweden)

    Mahnaz Momeni

    2011-01-01

    Full Text Available Ankylosing spondylitis is a chronic inflammatory condition that usually affects young men. Cardiac dysfunction and pulmonary disease are well-known and commonly reported extra-articular manifestation, associated with ankylosing spondylitis (AS. AS has also been reported to be specifically associated with aortitis, aortic valve diseases, conduction disturbances, cardiomyopathy and ischemic heart disease. The pulmonary manifestations of the disease include fibrosis of the upper lobes, interstitial lung disease, ventilatory impairment due to chest wall restriction, sleep apnea, and spontaneous pneumothorax. They are many reports detailing pathophysiology, hypothesized mechanisms leading to these derangements, and estimated prevalence of such findings in the AS populations. At this time, there are no clear guidelines regarding a stepwise approach to screen these patients for cardiovascular and pulmonary complications.

  2. Orofacial manifestations of systemic sclerosis.

    Science.gov (United States)

    Veale, B J; Jablonski, R Y; Frech, T M; Pauling, J D

    2016-09-23

    Systemic sclerosis (SSc) is a multisystem disease of unknown aetiology characterised by microangiopathy, dysregulated immune function and tissue remodelling, which commonly involves the oral cavity. Orofacial manifestations of SSc contribute greatly to overall disease burden and yet are regularly overlooked and under-treated. This may reflect a pre-occupation amongst rheumatology clinicians on potentially life-threatening internal organ involvement, but is also a consequence of insufficient engagement between rheumatologists and dental professionals. A high proportion of SSc patients report difficulty accessing a dentist with knowledge of the disease and there is recognition amongst dentists that this could impact negatively on patient care. This review shall describe the clinical features and burden of orofacial manifestations of SSc and the management of such problems. The case is made for greater collaborative working between rheumatologists and dental professionals with an interest in SSc in both the research and clinical setting.

  3. ORBITAL MANIFESTATIONS OF SINUS DISEASE

    Directory of Open Access Journals (Sweden)

    Jyothirmayi

    2015-01-01

    Full Text Available AIM : To study the orbital manifestations in patients with sinus disease. METHODS : Patients wit h paranasal sinus disease presenting to OPD at Government ENT Hospital, AMC, Visakhapatnam from January 2012 to June 2014 were screened for orbital manifestations. Out of these, thirteen patients with orbital disease were referred to GREH, AMC, Visakhapatn am and were thoroughly investigated and managed appropriately. RESULTS : Out of the 14 patients 4 were female and 10 were male. Age ranged from 19 years to 70 years. 5 had maxillary sinus disease (4 - carcinoma and 1 case of mucormycosis. Frontal sinus dis ease was seen in two patients, one fibrous dysplasia and one malignancy. Five patients had ethmoidal sinus disease of which three patients were found to have ethmoidal sinus tumour (Malignant melanoma, Squamous cell Carcinoma. More than two sinuses were i nvolved in 2 patients. CONCLUSIONS : Early screening of patients with sinus disease by an Ophthalmologist can help in preventing severe vision threatening orbital complications.

  4. Some Manifestations of Japanese Exclusionism

    Directory of Open Access Journals (Sweden)

    Liang Morita

    2015-08-01

    Full Text Available The Japanese subscribe to ethnic nationalism, which is an ideology with the aim to develop an ethnically exclusive and homogeneous nationhood. One manifestation of ethnic nationalism is the belief that Japan is, or should be, a mono-ethnic society. Ethnic nationalism is manifested in the exclusionary attitude or opinion of the Japanese. In the context of foreigners living in Japan, the exclusionary attitude or opinion of the Japanese often translates into the insistence that foreigners should do things the Japanese way. This is unfriendly to foreigners living in Japan, to say the least. This article illustrates how unwelcoming and inconvenient Japanese exclusionism can be by using two examples that directly affect foreigners: housing and discrimination against foreigners.

  5. Breast manifestations of systemic diseases

    Directory of Open Access Journals (Sweden)

    Dilaveri CA

    2012-02-01

    Full Text Available Christina A Dilaveri, Maire Brid Mac Bride, Nicole P Sandhu, Lonzetta Neal, Karthik Ghosh, Dietlind L Wahner-RoedlerDivision of General Internal Medicine, Mayo Clinic, Rochester, MN, USAAbstract: Although much emphasis has been placed on the primary presentations of breast cancer, little focus has been placed on how systemic illnesses may affect the breast. In this article, we discuss systemic illnesses that can manifest in the breast. We summarize the clinical features, imaging, histopathology, and treatment recommendations for endocrine, vascular, systemic inflammatory, infectious, and hematologic diseases, as well as for the extramammary malignancies that can present in the breast. Despite the rarity of these manifestations of systemic disease, knowledge of these conditions is critical to the appropriate evaluation and treatment of patients presenting with breast symptoms.Keywords: breast, endocrine, hematologic, infectious, vascular

  6. Unusual manifestations of secondary urothelial carcinoma

    Directory of Open Access Journals (Sweden)

    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.

  7. Clinical manifestations of sleep apnea

    OpenAIRE

    Stansbury, Robert C.; Strollo, Patrick J.

    2015-01-01

    Obstructive sleep apnea (OSA) may manifest in a number of ways from subtle intrusion into daily life to profound sleepiness, snoring, witnessed apneas and other classic symptoms. Although there is increasing evidence suggesting OSA can adversely affect health in a variety of ways, this disorder remains underdiagnosed. The most well-escribed health consequences of OSA relate to the cardiovascular system. Hypertension and arrhythmias have a strong association with OSA, and evidence suggests tha...

  8. Systemic diseases with cutaneous manifestations.

    Science.gov (United States)

    Merchant, S R; Taboada, J

    1995-07-01

    The purpose of this article is to briefly discuss the following cutaneous manifestations of selected systemic diseases: poxvirus; feline leukemia virus (FeLV); feline immunodeficiency virus (FIV); herpesvirus; calcivirus; pseudorabies; plague; tularemia; toxoplasmosis; leishmania; hypothyroidism; hyperthyroidism; hyperadrenocorticism; diabetes mellitus; acromegaly; thallium poisoning; pancreatic disease; hypereosinophilic syndrome; mucopolysaccharidosis; and pansteatitis. Recognition of these cutaneous signs may help alert the clinician to the possibility of an internal disorder so that the appropriate diagnostic tests can be considered.

  9. Rheumatic manifestations of diabetes mellitus.

    Science.gov (United States)

    Lebiedz-Odrobina, Dorota; Kay, Jonathan

    2010-11-01

    DM is associated with various musculoskeletal manifestations. The strength of this relationship varies among the various musculoskeletal disorders; the associations are based mostly on epidemiologic data. For most of these conditions, definitive pathophysiologic correlates are lacking.Hand and shoulder disorders occur more frequently than other musculoskeletal manifestations of DM. Recognition of the association between DM and shoulder adhesive capsulitis, DD, and stenosing flexor tenosynovitis facilitates their correct diagnosis in the setting of DM and prompt initiation of appropriate treatment, which may include optimizing glycemic control. Conversely, awareness and identification of the characteristic musculoskeletal manifestations of DM may facilitate earlier diagnosis of DM and initiation of glucose-lowering therapy to retard the development of diabetic complications.Much less has been published about the musculoskeletal complications of DM than about its micro- and macrovascular complications. Prospective case-control cohort studies are needed to establish the true prevalence of musculoskeletal complications of DM and the metabolic syndrome, especially in this era of tighter glycemic control.The potential relationship between DM and the development of OA needs to be clarified in large, prospective, case-control cohort studies. The effect on musculoskeletal manifestations of various therapeutic regimens to manage DM should be studied prospectively. Treatment regimens for some musculoskeletal conditions associated with DM, such as DISH, should be studied in larger prospective, randomized,controlled clinical trials.At the molecular level, further studies are warranted to clarify the potential contribution of AGEs and adipokines to the development of OA and diabetic musculoskeletal syndromes, such as shoulder adhesive capsulitis, DD, stenosing flexor tenosynovitis, and LJM. Identification of such molecular targets for therapy would promote the development of

  10. Respiratory manifestations in endocrine diseases

    OpenAIRE

    LENCU, CODRU?A; ALEXESCU, TEODORA; PETRULEA, MIRELA; LENCU, MONICA

    2016-01-01

    The control mechanisms of respiration as a vital function are complex: voluntary ? cortical, and involuntary ? metabolic, neural, emotional and endocrine. Hormones and hypothalamic neuropeptides (that act as neurotrasmitters and neuromodulators in the central nervous system) play a role in the regulation of respiration and in bronchopulmonary morphology. This article presents respiratory manifestations in adult endocrine diseases that evolve with hormone deficit or hypersecretion. In hyperthy...

  11. Imaging Manifestations of Thoracic Tuberculosis.

    Science.gov (United States)

    Restrepo, Carlos Santiago; Katre, Rashmi; Mumbower, Amy

    2016-05-01

    Despite significant improvements in the diagnosis and treatment of tuberculosis achieved during the last 3 decades, tuberculosis still remains one of the deadliest communicable diseases worldwide. Tuberculosis is still present in all regions of the world, with a more significant impact in developing countries. This article reviews the most common imaging manifestations of primary and postprimary tuberculosis, their complications, and the critical role of imaging in the diagnosis and follow-up of affected patients.

  12. Atypical Neurological Manifestations Of Hypokalemia

    Directory of Open Access Journals (Sweden)

    pal P K

    2004-01-01

    Full Text Available A part from the well-established syndrome of motor paralysis, hypokalemia may present with atypical neurological manifestations, which are not well documented in literature. Methods: We treated 30 patients of hypokalemia whose neurological manifestations improved after corrections of hypokalemia. A retrospective chart review of the clinical profile was done with emphasis on the evolution of symptoms and occurrence of unusual manifestations. Results: Twenty-eight patients had subacute quadriparesis with duration of symptoms varying from 10hrs to 7 days and two had slowly progressive quadriparesis. Fifty percent of patients had more than one attack of paralysis. Early asymmetric weakness (11, stiffness and abnormal posture of hands (7, predominant bibrachial weakness (4, distal paresthesias (4, hemiparesthesia (1, hyperreflexia(4, early severe weakness of neck muscles (3, chorea (1, trismus (1,and, retention of urine (1 were the unusual features observed. The means level of serum potassium on admission was 2.1+0.6mEq/L.and the serum creatine kinase was elevated in 14 out of 17 patients. All patients except two had complete recovery.

  13. Neurological manifestations of thoracic myelopathy.

    Science.gov (United States)

    Takenaka, Shota; Kaito, Takashi; Hosono, Noboru; Miwa, Toshitada; Oda, Takenori; Okuda, Shinya; Yamashita, Tomoya; Oshima, Kazuya; Ariga, Kenta; Asano, Masatoshi; Fuchiya, Tsuyoshi; Kuroda, Yusuke; Nagamoto, Yukitaka; Makino, Takahiro; Yamazaki, Ryoji; Yonenobu, Kazuo

    2014-07-01

    Investigation of preoperative manifestations of thoracic myelopathy in a large population has not been reported. The aim of this study was to identify symptoms specific to anatomical pathology or compressed segments in thoracic myelopathy through investigation of preoperative manifestations. Subjects were 205 patients [143 men, 62 women; mean age, 62.2 (range 21-87 years)] with thoracic myelopathy who underwent surgery at our affiliate institutions from 2000 to 2011. The disease distribution included ossification of the ligamentum flavum (OLF) in 106 patients, ossification of the posterior longitudinal ligament (OPLL) in 17, OLF with OPLL in 17, intervertebral disc herniation (IDH) in 23, OLF with IDH in 3, and spondylosis in 39. We assessed (1) initial and preoperative complaints, (2) neurological findings, (3) Japanese Orthopaedic Association scores (JOA, full score, 11 points), (4) the compressed segments, and (5) preoperative duration. Multivariate analyses were performed to examine potential relationships between preoperative manifestations and anatomical pathology or compressed segments. The multivariate analyses revealed relationships between lower limb muscle weakness and T10/11 anterior compression; lower limb pain and T11/12 anterior compression; low back pain and T11/12 compression; and hyporeflexia in the patellar tendon reflex/foot drop and T12/L1 anterior compression. This study elucidated symptoms specific to anatomical pathology or compressed segments in thoracic myelopathy. These relationships can be helpful in the initial investigation of thoracic diseases, although additional measures such as MRI or CT are necessary for definitive diagnosis.

  14. Glomus tumor of penis- A rare case

    Directory of Open Access Journals (Sweden)

    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.

  15. Bilateral internuclear ophthalmoplegia as first manifestation of extra pontine myelinolysis

    Directory of Open Access Journals (Sweden)

    Tushar Kanti Bandyopadhyay, Rudrajit Paul, Amit K Das, Rathindranath Sarkar

    2014-07-01

    Full Text Available Extrapontine myelinolysis (EPM is a rare clinical entity affecting anterior basal ganglia. This is one of the osmotic demyelination syndromes. It occurs due to rapid correction of hyponatremia and also rarely occurs in alcoholics. It generally presents with extrapyramidal symptoms. We here report a case of EPM in a 13 year old boy presenting with bilateral internuclear ophthalmoplegia and ptosis. The patient also had generalised weakness, but no psychiatric symptoms. The patient slowly recovered over six months. EPM can affect any age group, although the elderly are more likely to be affected due to frequent electrolyte abnormalities. Ocular movement disorders or brainstem signs are rarely reported in EPM. When present, it can create diagnostic confusion with multiple sclerosis. We believe this is the first report of this entity from India. The relevant literature regarding brainstem manifestations in myelinolysis syndromes is also discussed, along with the radiological findings.

  16. Exclusive lower extremity mirror movements and diastematomyelia.

    Science.gov (United States)

    Tubbs, R Shane; Smyth, Matthew D; Dure, Leon S; Oakes, W Jerry

    2004-01-01

    Mirror movements usually seen in the Klippel-Feil syndrome are most commonly appreciated in the upper extremities. Lower extremity involvement is seen rarely and when observed, is found in conjunction with upper extremity mirror movements. We report what we believe to be the first case of mirror movements found exclusively in the lower extremities in a female patient presenting with tethered cord syndrome. Our hopes are that this report will help elucidate mechanisms involved with these anomalous movements, as currently there is no commonly accepted etiology.

  17. 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

  18. Rare Earth Resolution

    Institute of Scientific and Technical Information of China (English)

    Mei Xinyu

    2012-01-01

    BEFORE the early 1970s, China had no rare earth exports, and the world rare earth market was dominated by the United States, Europe and Japan. In the 1970s, China began to enter the world rare earth market and its share has picked up sharply in the following decades. Today, having the monopoly over global rare earth production, China must improve the benefits from rare earth production, not only from producing individual rare earth products, but also from mastering the intensive processing of rare earth products.

  19. Cardiac manifestations in systemic sclerosis

    Institute of Scientific and Technical Information of China (English)

    Sevdalina; Lambova

    2014-01-01

    Primary cardiac involvement, which develops as a direct consequence of systemic sclerosis(SSc), may manifest as myocardial damage, fibrosis of the conduction system, pericardial and, less frequently, as valvular disease. In addition, cardiac complications in SSc may develop as a secondary phenomenon due to pulmonary arterial hypertension and kidney pathology. The prevalence of primary cardiac involvement in SSc is variable and difficult to determine because of the diversity of cardiac manifestations, the presence of subclinical periods, the type of diagnostic tools applied, and the diversity of patient populations. When clinically manifested, cardiac involvement is thought to be an important prognostic factor. Profound microvascular disease is a pathognomonic feature of SSc, as both vasospasm and structural alterations are present. Such alterations are thought to predict macrovascular atherosclerosis over time. There are contradictory reports regarding the prevalence of atherosclerosis in SSc. According to some authors, the prevalence of atherosclerosis of the large epicardial coronary arteries is similar to that of the general population, in contrast with other rheumatic diseases such as rheumatoid arthritis and systemic lupus erythematosus. However, the level of inflammation in SSc is inferior. Thus, the atherosclerotic process may not be as aggressive and not easily detectable in smaller studies. Echocardiography(especially tissue Doppler imaging), single-photon emission computed tomography, magnetic resonance imaging and cardiac computed tomography are sensitive techniques for earlier detection of both structural and functional scleroderma-related cardiac pathologies. Screening for subclinical cardiac involvement via modern, sensitive tools provides an opportunity for early diagnosis and treatment, which is of crucial importance for a positive outcome.

  20. Clinical manifestations of sleep apnea.

    Science.gov (United States)

    Stansbury, Robert C; Strollo, Patrick J

    2015-09-01

    Obstructive sleep apnea (OSA) may manifest in a number of ways from subtle intrusion into daily life to profound sleepiness, snoring, witnessed apneas and other classic symptoms. Although there is increasing evidence suggesting OSA can adversely affect health in a variety of ways, this disorder remains underdiagnosed. The most well-escribed health consequences of OSA relate to the cardiovascular system. Hypertension and arrhythmias have a strong association with OSA, and evidence suggests that treatment of OSA in patients with refractory hypertension and in patients planning cardioversion for atrial fibrillation may be of particularly importance. Significant associations between heart failure and OSA as well as complex sleep apnea have also been well-described. Cerebrovascular insult, impaired neurocognition, and poorly controlled mood disorder are also associated with in OSA. Therapy for OSA may ameliorate atherosclerotic progression and improve outcomes post-cerebrovascular accident (CVA). OSA should be considered in patients complaining of poor concentration at work, actual or near-miss motor vehicle accidents, and patients with severe sleepiness as a component of their co-morbid mood disorders. The metabolic impact of OSA has also been studied, particularly in relation to glucose homeostasis. Also of interest is the potential impact OSA has on lipid metabolism. The adverse effect untreated OSA has on glucose tolerance and lipid levels has led to the suggestion that OSA is yet another constituent of the metabolic syndrome. Some of these metabolic derangements may be related to the adverse effects untreated OSA has on hepatic health. The cardiovascular, neurocognitive, and metabolic manifestations of OSA can have a significant impact on patient health and quality of life. In many instances, evidence exists that therapy not only improves outcomes in general, but also modifies the severity of co-morbid disease. To mitigate the long-term sequela of this disease

  1. [Corneal manifestations in systemic diseases].

    Science.gov (United States)

    Zarranz Ventura, J; De Nova, E; Moreno-Montañés, J

    2008-01-01

    Systemic diseases affecting the cornea have a wide range of manifestations. The detailed study of all pathologies that cause corneal alteration is unapproachable, so we have centered our interest in the most prevalent or characteristic of them. In this paper we have divided these pathologies in sections to facilitate their study. Pulmonar and conective tissue (like colagen, rheumatologic and idiopathic inflamatory diseases), dermatologic, cardiovascular, hematologic, digestive and hepatopancreatic diseases with corneal alteration are described. Endocrine and metabolic diseases, malnutrition and carential states are also studied, as well as some otorhinolaryngologic and genetic diseases that affect the cornea. Finally, a brief report of ocular toxicity induced by drugs is referred.

  2. Monogenic Autoinflammatory Diseases: Concept And Clinical Manifestations

    Science.gov (United States)

    De Jesus, Adriana Almeida; Goldbach-Mansky, Raphaela

    2013-01-01

    The objectives of this review are to describe the clinical manifestations of the growing spectrum of monogenic autoinflammatory diseases including recently described syndromes. The autoinflammatory diseases can be grouped based on clinical findings: 1. the three classic hereditary “periodic fever syndromes”, familial Mediterranean Fever (FMF); TNF receptor associated periodic syndrome (TRAPS); and mevalonate kinase deficiency/hyperimmunoglobulinemia D and periodic fever syndrome (HIDS); 2. the cryopyrin associated periodic syndromes (CAPS), comprising familial cold autoinflammatory syndrome (FCAS), Muckle-Wells syndrome (MWS) and neonatal-onset multisystem inflammatory disease (NOMID) or CINCA, and; 3. pediatric granulomatous arthritis (PGA); 4. disorders presenting with skin pustules, including deficiency of interleukin 1 receptor antagonist (DIRA); Majeed syndrome; pyogenic arthritis, pyoderma gangrenosum and acne (PAPA) syndrome; deficiency of interleukin 36 receptor antagonist (DITRA); CARD14 mediated psoriasis (CAMPS), and early-onset inflammatory bowel diseases (EO-IBD); 5. inflammatory disorders caused by mutations in proteasome components, the proteasome associated autoinflammatory syndromes (PRAAS) 6. very rare conditions presenting with autoinflammation and immunodeficiency. PMID:23711932

  3. Subperiosteal osteoid osteoma: radiographic and pathologic manifestations

    Energy Technology Data Exchange (ETDEWEB)

    Shankman, S. [Department of Radiology, Hospital for Joint Diseases/OI, 301 East 17th Street, New York, NY 10003 (United States); Desai, P. [Department of Pathology, Hospital for Joint Diseases/OI, 301 East 17th Street, New York, NY 10003 (United States); Beltran, J. [Department of Radiology, Hospital for Joint Diseases/OI, 301 East 17th Street, New York, NY 10003 (United States)

    1997-08-01

    Objective.To demonstrate the radiologic and pathologic manifestations of osteoid osteoma arising beneath the periosteum, on the surface of the bone. Design. One hundred and sixty osteoid osteomas were seen over a 30-year period. The radiologic, pathologic and operative findings of those that were subperiosteal were reviewed. Patients. Eleven patients with subperiosteal osteoid osteoma were reviewed. The patients ranged in age from 13 to 36 years with a mean of 24 years. Eight were male and three were female. Results and conclusion. Eleven subperiosteal lesions were studied. The reactive periostitis of four lesions was atypical and misleading. Four lesions had features similar to the more common intracortical variety. Three lesions occurring within the joint like other intra-articular lesions were barely seen on plain radiographs. Bone scan and CT scan were virtually diagnostic. The histopathology of these lesions was also atypical though not misleading. In conclusion, subperiosteal osteoid osteoma is a rare lesion with atypical radiographic and histopathologic features. The unusual reactive periostitis seen in several extra-articular cases may suggest other diagnoses. (orig.). With 4 figs., 2 tabs.

  4. Monogenic autoinflammatory diseases: concept and clinical manifestations.

    Science.gov (United States)

    Almeida de Jesus, Adriana; Goldbach-Mansky, Raphaela

    2013-06-01

    The objective of this review is to describe the clinical manifestations of the growing spectrum of monogenic autoinflammatory diseases including recently described syndromes. The autoinflammatory diseases can be grouped based on clinical findings: 1. the three classic hereditary "periodic fever syndromes", familial Mediterranean Fever (FMF); TNF receptor associated periodic syndrome (TRAPS); and mevalonate kinase deficiency/hyperimmunoglobulinemia D and periodic fever syndrome (HIDS); 2. the cryopyrin associated periodic syndromes (CAPS), comprising familial cold autoinflammatory syndrome (FCAS), Muckle-Wells syndrome (MWS) and neonatal-onset multisystem inflammatory disease (NOMID) or CINCA, and; 3. pediatric granulomatous arthritis (PGA); 4. disorders presenting with skin pustules, including deficiency of interleukin 1 receptor antagonist (DIRA); Majeed syndrome; pyogenic arthritis, pyoderma gangrenosum and acne (PAPA) syndrome; deficiency of interleukin 36 receptor antagonist (DITRA); CARD14 mediated psoriasis (CAMPS), and early-onset inflammatory bowel diseases (EO-IBD); 5. inflammatory disorders caused by mutations in proteasome components, the proteasome associated autoinflammatory syndromes (PRAAS) and 6. very rare conditions presenting with autoinflammation and immunodeficiency.

  5. Extraintestinal Manifestations of Inflammatory Bowel Disease

    Science.gov (United States)

    Schoepfer, Alain; Scharl, Michael; Lakatos, Peter L.; Navarini, Alexander; Rogler, Gerhard

    2015-01-01

    Abstract: Extraintestinal manifestations (EIM) in inflammatory bowel disease (IBD) are frequent and may occur before or after IBD diagnosis. EIM may impact the quality of life for patients with IBD significantly requiring specific treatment depending on the affected organ(s). They most frequently affect joints, skin, or eyes, but can also less frequently involve other organs such as liver, lungs, or pancreas. Certain EIM, such as peripheral arthritis, oral aphthous ulcers, episcleritis, or erythema nodosum, are frequently associated with active intestinal inflammation and usually improve by treatment of the intestinal activity. Other EIM, such as uveitis or ankylosing spondylitis, usually occur independent of intestinal inflammatory activity. For other not so rare EIM, such as pyoderma gangrenosum and primary sclerosing cholangitis, the association with the activity of the underlying IBD is unclear. Successful therapy of EIM is essential for improving quality of life of patients with IBD. Besides other options, tumor necrosis factor antibody therapy is an important therapy for EIM in patients with IBD. PMID:26154136

  6. 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.

  7. Ventricular tachycardia as a first manifestation of right ventricular myxoma--a case presentation.

    Science.gov (United States)

    Badui, E; Cruz, H; Almazan, A; Enciso, R; Soberanis, N; Garcia, R

    1991-12-01

    The authors present a case of a thirty-nine-year-old white man in good health who developed episodes of ventricular tachycardia as a first manifestation of a right ventricular myxoma, which was diagnosed by two-dimensional echocardiogram and then resected with no complications and total disappearance of the cardiac arrhythmia. After reviewing the literature they consider the present case as a rare manifestation of an infrequent location of an uncommon disease.

  8. Aseptic Splenic Abscess as Precursory Extraintestinal Manifestation of Inflammatory Bowel Disease

    Directory of Open Access Journals (Sweden)

    Joel Brooks

    2014-01-01

    Full Text Available Splenic abscesses are most often secondary to aerobic bacterial infections due to Streptococcus, Staphylococcus, and Enterococcus species of organisms. Sterile splenic abscesses rarely occur and diagnosis and treatment of those are challenging. We report a case of a previously healthy young female presenting with aseptic splenic abscesses as the initial manifestation of Crohn’s disease along with a review of the literature on aseptic splenic abscess as an extraintestinal manifestation of Crohn’s disease.

  9. Dermatologic and otorhinolaryngologic manifestations in leishmaniasis

    Directory of Open Access Journals (Sweden)

    Mota, Luiz Alberto Alves

    2011-07-01

    Full Text Available Introduction: Leishmaniasis is an extremely important parasitic disease as regards epidemiology, and, in such a disease, man is an occasional host to the Leishmania protozoon. Some of the major clinical, visceral and integumentary features are the mucocutaneous ways that can harm face and upper airways and even cause deforming lesions, leading to a functional impairment. Objective: Review the main dermatologic and otorhinolaryngologic manifestations in leishmaniasis. Methods: It was based on the Virtual Health Library (BVS, by entering the following keywords: Leishmaniasis, mucocutaneous leishmaniasis, nasal mucosa, and nose. References dated from 1999 to 2008 have been regarded. Final Comments: It is about a zoonosis, in which the human being is an occasional host attacked by Lutzomya or Phlebotomus insects that are, in turn, infected by the Leishmania parasite, and the early diagnosis of a leishmania-related lesion is essential, especially when a nasopharyngeal impairment is evident, with a view to preventing deformities or functional harms. The evaluation of cutaneous and/or mucosa lesions and the accurate definition of leishmaniasis diagnosis given by either dermatologists or otorhinolaryngologists enables the proper treatment to be implemented and the subsequent reduction in the disease dissemination.

  10. Naegleria meningitis : a rare survival.

    Directory of Open Access Journals (Sweden)

    Jain R

    2002-10-01

    Full Text Available Acute amebic meningoencephalitis caused by free-living amebae naegleria fowleri is extremely rare and uniformly fatal with only seven survivals reported till date. An interesting case of naegleria meningitis diagnosed by wet mount cytology of cerebrospinal fluid (CSF and treated with amphoterecin B, rifampicin and ornidazole with complete recovery is presented. In cases of suspected pyogenic meningitis, if CSF staining, antigen detection or culture is negative for bacteria, a wet mount cytology of CSF for naegleria is suggested. Early treatment with amphoterecin B and rifampicin may improve survival.

  11. Cutaneous manifestations of inflammatory bowel disease

    Directory of Open Access Journals (Sweden)

    Al Roujayee Abdulaziz

    2007-01-01

    Full Text Available Inflammatory bowel disease (IBD has many extraintestinal manifestations, and skin lesions are one of the most frequently described extraintestinal findings. Reports indicate an incidence of cutaneous manifestations ranging from 2 to 34%, Cutaneous manifestations are usually related to the activity of the bowel disease but may have an independent course. In this review we aim to address the various cutaneous manifestations associated with IBD, their impact on the disease course, and the treatment options available.

  12. [Pneumomediastinum during a dermatomyositis: a rare entity].

    Science.gov (United States)

    Majdoub, Senda; Zemni, Houcem; Zaghouani, Houneida; Ben Salem, Halima Houda; Amara, Habib; Bakir, Dajla; Kraeim, Chakib

    2016-01-01

    Dermatomyositis is a connective characterized by inflammation of skeletal muscle with cutaneous manifestations. Their etiologies, still unknown, associate environmental and genetic factors. Among lung complications described, interstitial pneumopathies are common complications. Other complications are rarely reported as pneumomediastinum. We report a case of pneumomediastinum with aeric in massive skin dissection occurred in a patient with dermatomyositis. We will discuss the frequency, causes and pathophysiology of the disease according to the literature.

  13. [Hashimoto's encephalopathy - rare encephalopathy with good prognosis].

    Science.gov (United States)

    Kaczmarczyk, Aleksandra; Patalong-Ogiewa, M; Krzystanek, E

    2016-01-01

    Hashimoto's encephalopathy (HE) is a rare neuropsychiatric syndrome associated with increased level of antithyroid antibodies. Two types of clinical manifestation can be described: a vasculitic type with stroke like episodes and diffuse progressive type with deterioration of mental function. Neurologic symptoms are present in euthyreosis as well as in thyroid dysfunction. Because of good response to immunosuppressive therapy, the prompt diagnosis and management of HE are crucial. In this study we present the review of current literature and discuss two representative cases.

  14. Atypical Manifestation of Vestibular Schwannoma

    Directory of Open Access Journals (Sweden)

    Webster, Guilherme

    2013-09-01

    Full Text Available Introduction: Vestibular schwannoma (also known as acoustic neuroma is a benign tumor whose cells are derived from Schwann sheaths, which commonly occurs from the vestibular portion of the eighth cranial nerve. Furthermore, vestibular schwannomas account for ∼8% of intracranial tumors in adults and 80 to 90% of tumors of the cerebellopontine angle. Its symptoms are varied, but what stands out most is a unilateral sensorineural hearing loss, with a low index of speech recognition. Objective: Describe an atypical manifestation of vestibular schwannoma. Case Report: The 46-year-old woman had vertigo and binaural hearing loss and fullness, with ear, nose, and throat examination suggestive of cochlear injury. After 6 months, the patient developed worsening of symptoms and onset of right unilateral tinnitus. In further exams the signs of cochlear damage remained, except for the vestibular test (hyporeflexia. Magnetic resonance imaging showed an expansive lesion in the right cerebellopontine angle. Discussion: This report warns about the atypical manifestations of vestibular schwannoma, which must always be remembered in investigating and diagnosing hearing loss.

  15. Oral manifestations of acute leukaemia

    Directory of Open Access Journals (Sweden)

    Ivanović Mirjana

    2011-01-01

    Full Text Available Acute leukaemia is the most common form of chilhood cancer. The aim of this paper was to underline the importance of oral manifestations in children with acute leukaemia. The disease and its treatment can directly or indirectly affect oral health. Oral manifestations are gingival inflammation and enlargement. Leukaemic cells are capable of infiltrating the gingiva and the deeper periodontal tissues which leads to ulceration and infection of oral tissues. Gingival bleeding is a common sign in patients with leukaemia. Symptoms include local lymphadenopathy, mucous membrane Petechiae and ecchymoses. Cytotoxic drugs have direct effects like mucositis, involving atrophy, desquamation and ulceration of the mucosa, with increasing the risk for local and systemic infections. Leukaemia can directly influence dental care and dental treatment, while oral lesions may have life-threatening consequences. Knowledge and skills among dentists may also not be adequate to treat children with acute leukaemia. It is therefore imperative that all stomatologists be aware of dental problems that occur in leukaemia in order to be able to effectively carry out appropriate measures to mitigate these problems.

  16. Cutaneous manifestations of internal malignancy

    Directory of Open Access Journals (Sweden)

    A Ayyamperumal

    2012-01-01

    Full Text Available Background: Many malignancies affecting the internal organs display cutaneous manifestations which may be either specific (tumor metastases or nonspecific lesions. Aims: The study is aimed at determining the frequency and significance of cutaneous manifestations among patients with internal malignancy. Materials and Methods: 750 cases of proven internal malignancy, who attended a cancer chemotherapy center in South India, were studied. Specific infiltrates were confirmed by histopathology, fine needle aspiration cytology (FNAC and marker studies. Results: Out of the 750 patients with internal malignancy, skin changes were seen in a total of 52 (6.93% patients. Conclusion: Cutaneous metastases (specific lesions were seen in 20 patients (2.66%: contiguous in 6 (0.8%, and non-contiguous in 14 (1.86%. Nonspecific skin changes were seen in 32 patients (4.26%. None of our patients presented with more than one type of skin lesions. Herpes zoster was the most common nonspecific lesion noticed in our patients, followed by generalized pruritus, multiple eruptive seborrheic keratoses, bullous disorder, erythroderma, flushing, purpura, pyoderma gangrenosum, insect bite allergy and lichenoid dermatitis.

  17. [Lupus vulgaris manifestation as a destructive nose and facial tumor].

    Science.gov (United States)

    Haller, D; Reisser, C

    2009-04-01

    Lupus vulgaris is the most frequent manifestation of cutaneous tuberculosis, but in Europe it is limited to isolated cases. Mainly immunocompetent individuals are affected by this result of an endogenous reinfection on a lymphogenous-less frequently hematogenous-pathway. Lupus vulgaris has been observed to develop in more than 50% of all patients who already suffer from other manifestations of tuberculosis. The development of a squamous cell carcinoma in the lupus vulgaris is a rare complication; therefore, lupus vulgaris is deemed a facultative precancerosis.A 68-year-old female Serbo-Croatian patient presented with an extensive ulcerative nose and facial tumor. Her anamnesis included a squamous cell carcinoma of the nose that had been excised alio loco 3 years before. Further examinations revealed enlarged cervical lymphoma on both sides, and pulmonary metastases were also suspected. The tumor biopsy revealed a necrotic, granulomatous inflammation. No acid-fast rods were seen on Ziehl-Neelsen stain. The tuberculous origin of this ulcerative skin tumor-the lupus vulgaris-as an endogenous reinfection of pulmonary tuberculosis manifestation was confirmed by the detection of Mycobacterium tuberculosis DNA in polymerase chain reaction and the growth of Mycobacterium tuberculosis colonies in the bacterial culture (skin biopsy and bronchial secretion). The skin tumor as well as the pulmonary manifestation were successfully treated with combined tuberculostatic therapy and showed a dramatic response within 3 months.

  18. [Neurological manifestations of Behçet's disease].

    Science.gov (United States)

    Noel, N; Drier, A; Wechsler, B; Piette, J-C; De Paz, R; Dormont, D; Cacoub, P; Saadoun, D

    2014-02-01

    Neurological manifestations of Behçet's disease (BD) occur in 5.3 to more than 50% of patients. They are divided into two major forms: "parenchymal" lesions, which include mainly meningoencephalitis as opposed to "extra-parenchymal" lesions (i.e. cerebral venous thrombosis and arterial aneurysms). Myelitis or peripheral neuropathy is exceptional. The neuro-Behçet syndrome (NBS) should be considered in the setting of neurological manifestations, particularly headache and pyramidal signs, in a young man diagnosed with BD. However, its recognition may be difficult when neurological manifestations are the presenting features of BD (one third of cases), and requires a thorough knowledge of clinical manifestations and morphological lesions. Thus, parenchymal NB lesions classically exhibit inflammatory characteristics on MRI and are located at the meso-diencephalic junction and in the brainstem, rarely with a supratentorial extension. Meningitis is not systematically associated, and may be absent in about 30% of cases. The pathogenesis of these lesions is incompletely understood, but inflammatory infiltrates include mainly neutrophils and activated T cells (mainly Th17). Differential diagnoses include infectious diseases (herpes, listeria, tuberculosis), and inflammatory diseases (i.e. multiple sclerosis and sarcoidosis). A prompt recognition of NBS should lead to initiate adequate therapies in order to limit the risk of sequelae, relapses or death.

  19. Acute Psychosis as Main Manifestation of Central Pontine Myelinolysis

    Directory of Open Access Journals (Sweden)

    Mangala Gopal

    2017-01-01

    Full Text Available Central pontine myelinolysis (CPM is an acute demyelinating neurological disorder affecting primarily the central pons and is frequently associated with rapid correction of hyponatremia. Common clinical manifestations of CPM include spastic quadriparesis, dysarthria, pseudobulbar palsy, and encephalopathy of various degrees; however, coma, “locked-in” syndrome, or death can occur in most severe cases. Rarely, CPM presents with neuropsychiatric manifestations, such as personality changes, acute psychosis, paranoia, hallucinations, or catatonia, typically associated with additional injury to the brain, described as extrapontine myelinolysis (EPM. We present a patient with primarily neuropsychiatric manifestations of CPM, in the absence of focal neurologic deficits or radiographic extrapontine involvement. A 51-year-old female without significant medical history presented with dizziness, frequent falls, diarrhea, generalized weakness, and weight loss. Physical examination showed no focal neurological deficits. Laboratory data showed severe hyponatremia, which was corrected rather rapidly. Subsequently, the patient developed symptoms of an acute psychotic illness. Initial brain magnetic resonance imaging (MRI was unremarkable, although a repeat MRI two weeks later revealed changes compatible with CPM. This case demonstrates that acute psychosis might represent the main manifestation of CPM, especially in early stages of the disease, which should be taken into consideration when assessing patients with acute abnormalities of sodium metabolism.

  20. Acute Psychosis as Main Manifestation of Central Pontine Myelinolysis

    Science.gov (United States)

    Gopal, Mangala; Patel, Harsh

    2017-01-01

    Central pontine myelinolysis (CPM) is an acute demyelinating neurological disorder affecting primarily the central pons and is frequently associated with rapid correction of hyponatremia. Common clinical manifestations of CPM include spastic quadriparesis, dysarthria, pseudobulbar palsy, and encephalopathy of various degrees; however, coma, “locked-in” syndrome, or death can occur in most severe cases. Rarely, CPM presents with neuropsychiatric manifestations, such as personality changes, acute psychosis, paranoia, hallucinations, or catatonia, typically associated with additional injury to the brain, described as extrapontine myelinolysis (EPM). We present a patient with primarily neuropsychiatric manifestations of CPM, in the absence of focal neurologic deficits or radiographic extrapontine involvement. A 51-year-old female without significant medical history presented with dizziness, frequent falls, diarrhea, generalized weakness, and weight loss. Physical examination showed no focal neurological deficits. Laboratory data showed severe hyponatremia, which was corrected rather rapidly. Subsequently, the patient developed symptoms of an acute psychotic illness. Initial brain magnetic resonance imaging (MRI) was unremarkable, although a repeat MRI two weeks later revealed changes compatible with CPM. This case demonstrates that acute psychosis might represent the main manifestation of CPM, especially in early stages of the disease, which should be taken into consideration when assessing patients with acute abnormalities of sodium metabolism.

  1. 40 CFR 761.210 - Manifest discrepancies.

    Science.gov (United States)

    2010-07-01

    ... PROHIBITIONS PCB Waste Disposal Records and Reports § 761.210 Manifest discrepancies. (a) Manifest discrepancies are differences between the quantity or type of PCB waste designated on the manifest or shipping paper and the quantity or type of PCB waste actually delivered to and received by a designated facility...

  2. Characterizing Extreme Ionospheric Storms

    Science.gov (United States)

    Sparks, L.; Komjathy, A.; Altshuler, E.

    2011-12-01

    Ionospheric storms consist of disturbances of the upper atmosphere that generate regions of enhanced electron density typically lasting several hours. Depending upon the storm magnitude, gradients in electron density can sometimes become large and highly localized. The existence of such localized, dense irregularities is a major source of positioning error for users of the Global Positioning System (GPS). Consequently, satellite-based augmentation systems have been implemented to improve the accuracy and to ensure the integrity of user position estimates derived from GPS measurements. Large-scale irregularities generally do not pose a serious threat to estimate integrity as they can be readily detected by such systems. Of greater concern, however, are highly localized irregularities that interfere with the propagation of a signal detected by a user measurement but are poorly sampled by the receivers in the system network. The most challenging conditions have been found to arise following disturbances of large magnitude that occur only rarely over the course of a solar cycle. These extremely disturbed conditions exhibit behavior distinct from moderately disturbed conditions and, hence, have been designated "extreme storms". In this paper we examine and compare the behavior of the extreme ionospheric storms of solar cycle 23 (or, more precisely, extreme storms occurring between January 1, 2000, and December 31, 2008), as represented in maps of vertical total electron content. To identify these storms, we present a robust means of quantifying the regional magnitude of an ionospheric storm. Ionospheric storms are observed frequently to occur in conjunction with magnetic storms, i.e., periods of geophysical activity as measured by magnetometers. While various geomagnetic indices, such as the disturbance storm time (Dst) and the planetary Kp index, have long been used to rank the magnitudes of distinct magnetic storms, no comparable, generally recognized index exists for

  3. Pentalogy of Cantrell: An Extremely Rare Congenital Anomaly

    Science.gov (United States)

    Chandran, Suresh; Ari, Dinesh

    2013-01-01

    A baby with the complete form of pentalogy of Cantrell was delivered at 33 weeks of gestation. The hallmark of this syndrome is ectopia cordis (EC) with omphalocele. Even though a fetal diagnosis was made at 14 weeks, parents have decided to continue with the pregnancy. Early antenatal ultrasonographic diagnosis is essential as survival depends mostly on the EC, associated cardiac anomalies and degree of thoraco-abdominal defect. Fetal diagnosis of this lethal anomaly before viability gives the parents an option of termination. PMID:24049753

  4. ENTEROHEPATIC FISTULA ASSOCIATED WITH LIVER ABSCESS - AN EXTREMELY RARE PRESENTATION

    OpenAIRE

    Vedaraju; Srinivas,; Ashwini; Vijayaraghavachari; Adarsh; Riya Jeeson

    2015-01-01

    Gastrointestinal (GI) fistulas represent abnormal duct like communications between the gut and another epithelial - lined surface , such as another organ system , the skin surface , or elsewhere along the GI tract itself. (1) The development of a GI fistula can markedly increase patient morbidity and mortality , rendering detection of the fistula critical. Imaging often plays a pivotal role in the diagnosis and management of GI fistula....

  5. Tooth-marked small theropod bone: an extremely rare trace

    DEFF Research Database (Denmark)

    Jacobsen, Aase Roland

    2001-01-01

    Tooth-marked dinosaur bones provide insight into feeding behaviours and biting strategies of theropod dinosaurs. The majority of theropod tooth marks reported to date have been found on herbivorous dinosaur bones, although some tyrannosaurid bones with tooth marks have also been reported. In 1988...

  6. Pneumothorax: A rare presentation of pulmonary mycetoma

    Directory of Open Access Journals (Sweden)

    Gupta Prem

    2007-01-01

    Full Text Available Pneumothorax due to mycetoma is extremely rare and has been described only in patients undergoing intensive cytotoxic therapy for hematologic malignancies. A non-immunocompromised subject presenting with pneumothorax due to rupture of the mycetoma into the pleural cavity is being described here.

  7. 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.

  8. Acute Appendicitis: An Extracolonic Manifestation of Clostridium difficile Colitis

    Directory of Open Access Journals (Sweden)

    Ali Ridha

    2017-01-01

    Full Text Available The current report is the case of a 30-year-old male patient who presented with symptomatology suggestive of appendicitis. However, careful history-taking and laboratory tests led to the diagnosis of Clostridium difficile colitis, resulting in successful nonsurgical management of this patient. Although both appendicitis and C. difficile colitis are common conditions, they are rarely diagnosed concurrently. This is reflected by paucity of literature describing this manifestation. Given this current presentation, the authors contend that the manifestation of extracolonic colitis within the appendix is possibly underdiagnosed or misdiagnosed as an acute appendicitis and thus potentially results in unnecessary surgical intervention. This report reminds physicians to consider the medical approach to managing acute appendicitis given the possibility of underlying C. difficile colitis as the causative factor.

  9. Epididymo-orchitis: an unusual manifestation of salmonellosis.

    Science.gov (United States)

    Bansal, Neha; Kaistha, Neelam; Chander, Jagdish

    2012-08-01

    Salmonellosis continues to be a major public health problem, especially in developing countries. The formation of focal abscesses may occur following either hematogenous or lymphatic spread. There are large number of serious and life-threatening clinical manifestations of Salmonella spp., ranging from osteomyelitis to infective endocarditis and meningitis. However, even though Salmonella epidydimo-orchitis is a relatively rare clinical manifestion, it can present, most often in male babies and adolescent boys, following contact with nontyphoidal Salmonella. Here, we report a case of epididymo-orchitis due to Salmonella Paratyphi A that presented in an otherwise healthy 63-year-old man in order to highlight this organism's unusual clinical presentation. In countries such as India, where Salmonella infections are endemic, a high index of suspicion should be always be maintained and the possibility of a Salmonella infection at an aberrant site where it is hardly expected should not be ruled out.

  10. Non-stroke Central Neurologic Manifestations in Antiphospholipid Syndrome.

    Science.gov (United States)

    Yelnik, Cécile M; Kozora, Elizabeth; Appenzeller, Simone

    2016-02-01

    Thrombotic manifestations of antiphospholipid syndrome (APS) are well known, and various non-stroke neuro-psychiatric manifestations (NPMs) have also been consistently described, but their place in APS remains unclear. Some syndromes, such as migraine or cognitive dysfunction, are frequently described in APS, whereas others, like seizure, multiple sclerosis-like symptoms, transverse myelitis, movement disorders, or psychiatric symptoms, are rarely found. Overlap with other autoimmune diseases, in particular with systemic lupus erythematosus, the lack of large sample size prospective studies, and discrepancies in antiphospholipid antibody (aPL) determinations complicate the study of the relationship between those disorders and aPL/APS. This review article aimed to summarize updated data on pathophysiologic, epidemiologic, and radiologic findings about non-stroke NPM described in primary APS and aPL-positive patients without overlap of other autoimmune diseases.

  11. A case of Sheehan's syndrome that manifested as bilateral ptosis.

    Science.gov (United States)

    Lee, Young Sil; Moon, Seong Su

    2011-04-01

    Hypothyroidism can cause a variety of signs and symptoms of the neuromuscular system. However, ptosis in a patient with hypothyroidism is very rare. We report here on a case of central hypothyroidism that was due to Sheehan's syndrome and it manifested as bilateral ptosis in a 51-yr-old woman. She complained of exertional dyspnea and weakness. About 25-yr ago, she had a history of severe postpartum vaginal bleeding. The laboratory studies demonstrated hypopituitarism with secondary hypothyroidism. The ptosis was improved by replacement of thyroid hormone. Hypothyroidism should be considered in the differential diagnosis of patients who manifest with ptosis and that prompt replacement of hormone can lead to a complete recovery.

  12. Clinical manifestations of bovine leukosis

    Energy Technology Data Exchange (ETDEWEB)

    Sorensen, D.K.

    1979-01-01

    The diagnosis of animals infected with BLV can be accurately identified with the available serologic tests. Diagnosis of animals in the incipient stage of leukosis is extremely difficult and can only be diagnosed by a positive tissue biopsy. Animals with frank tumor involvement can be suspected and diagnosed on a tentative clinical basis on the signs reported. Positive diagnosis must be made on the basis of a biopsy of the tumor or in some cases on a hemotological examination.

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

    Science.gov (United States)

    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.

  14. Tetany due to hypoparathyroidism as the initial manifestation of autoimmune polyendocrine syndrome type-2: A case report

    Directory of Open Access Journals (Sweden)

    Deep Dutta

    2012-01-01

    Full Text Available Hypoparathyroidism is most commonly isolated and idiopathic. Hypoparathyroidism in autoimmune polyendocrine syndrome type-2 (APS-2 is extremely rare with few isolated reports and usually presents late. We present perhaps for the first time, hypoparathyroidism being the initial manifestation of APS-2 which was diagnosed in a 32 year lady with tingling of the extremities along with hypocalcemic tetany for 15 years. She also had generalized acral and mucosal hyperpigmentation of 2 years duration. Investigations were significant for low calcium (7.1mg/dl, elevated phosphorus (4.8mg/dl, vitamin-D insufficiency (27.4ng/ml, low intact parathyroid hormone (2.3pg/ml, low basal (4.7mcg/dl and stimulated serum cortisol (9.2mcg/dl at half hour, 11.4mcg/dl at 1 hour post synacthen, elevated triiodothyronine (2.1ng/ml and free tetraiodothyronine (2.4ng/dl along with suppressed TSH (<0.005 U/L. Imaging relevaled mild cerebellar calcification, normal adrenals with diffuse uptake of Tc 99 - pertechnate. A diagnosis of hypoparathyroidism with Addison′s and Graves′ disease as a part of APS-2 was made. This report intends to highlight the clinical heterogeneity and varied presentation of APS-2. Routine screening of other hormonal function (especially adrenal function, thyroid function and blood glucose in a patient with diagnosed hypoparathyroidism is advisable to decrease the chances of missing APS-2.

  15. Tetany due to hypoparathyroidism as the initial manifestation of autoimmune polyendocrine syndrome type-2: A case report.

    Science.gov (United States)

    Dutta, Deep; Maisnam, Indira; Ghosh, Sujoy; Dasgupta, Ranen; Mukhopadhyay, Satinath; Chowdhury, Subhankar

    2012-12-01

    Hypoparathyroidism is most commonly isolated and idiopathic. Hypoparathyroidism in autoimmune polyendocrine syndrome type-2 (APS-2) is extremely rare with few isolated reports and usually presents late. We present perhaps for the first time, hypoparathyroidism being the initial manifestation of APS-2 which was diagnosed in a 32 year lady with tingling of the extremities along with hypocalcemic tetany for 15 years. She also had generalized acral and mucosal hyperpigmentation of 2 years duration. Investigations were significant for low calcium (7.1mg/dl), elevated phosphorus (4.8mg/dl), vitamin-D insufficiency (27.4ng/ml), low intact parathyroid hormone (2.3pg/ml), low basal (4.7mcg/dl) and stimulated serum cortisol (9.2mcg/dl at half hour, 11.4mcg/dl at 1 hour post synacthen), elevated triiodothyronine (2.1ng/ml) and free tetraiodothyronine (2.4ng/dl) along with suppressed TSH (<0.005 U/L). Imaging relevaled mild cerebellar calcification, normal adrenals with diffuse uptake of Tc(99)- pertechnate. A diagnosis of hypoparathyroidism with Addison's and Graves' disease as a part of APS-2 was made. This report intends to highlight the clinical heterogeneity and varied presentation of APS-2. Routine screening of other hormonal function (especially adrenal function, thyroid function and blood glucose) in a patient with diagnosed hypoparathyroidism is advisable to decrease the chances of missing APS-2.

  16. Recurrent Epistaxis and Bleeding as the Initial Manifestation of Brucellosis.

    Science.gov (United States)

    Kamali Aghdam, Mojtaba; Davari, Kambiz; Eftekhari, Kambiz

    2016-03-01

    Severe thrombocytopenia with bleeding is rarely reported in children with brucellosis, and recurrent epistaxis is extremely rare. Brucellosis with hemorrhage should be differentiated from viral hemorrhagic fever, malignancy, and other blood disorders. Bone marrow aspiration (BMA) is mandatory to differentiate from other blood diseases. An 8-year-old boy was admitted with recurrent epistaxis, petechiae and purpura on face and extremities and bleeding from the gums. During the hospitalization, he was febrile and complained of muscle pain. Leukopenias associated with thrombocytopenia were observed. BMA showed to be normal. Among the multiple tests requested, only serum agglutination test (SAT) and 2-MercaptoEthanol test (2-ME) were positive. He was treated with Intravenous immunoglobulin (IVIG) associated with co-trimoxazole and rifampin. Finally, fever subsided, and he was discharged with good condition and normal platelet count. Brucellosis should be a differential diagnosis in patients with fever and bleeding disorders and a history of consumption of unpasteurized dairy, in endemic areas.

  17. Clinical Profile of Atypical Manifestations of Dengue Fever.

    Science.gov (United States)

    Pothapregada, Sriram; Kamalakannan, Banupriya; Thulasingam, Mahalakshmy

    2016-06-01

    To study the clinical profile and outcome of the atypical manifestations of dengue fever in children. All children (0-12 y of age) diagnosed and confirmed as dengue fever at a tertiary care hospital at Puducherry, between the 1st of August 2012 and January 31st 2015 were reviewed retrospectively from hospital case records as per the revised World Health Organization (WHO) guidelines 2011 for dengue fever. The diagnosis was confirmed by NS1 antigen-based ELISA test or dengue serology for IgM and IgG antibodies and the data was analyzed using SPSS 16.0 statistical software. Out of 254 children admitted with dengue fever, non-severe dengue and severe dengue were seen in 62.6 % and 37.4 % respectively. Atypical manifestations were seen in 106 cases (41.7 %). Mean age of presentation was 6.9(3.3) y. M: F ratio was 1.2:1. The common manifestations of severe dengue infection were shock (37.4 %), bleeding (20.1 %) and multi-organ dysfunction (2.4 %). The most common atypical manifestations of dengue fever were lymphadenopathy (41.7 %), splenomegaly (21.2 %), biphasic fever (18.1 %), hepatitis (11.4 %), febrile diarrhea (6.3 %), refractory shock (2.4 %) and impaired consciousness (1.9 %). The other atypical manifestations present were portal hypertension, acalculous cholecystitis, appendicitis, acute respiratory distress syndrome (ARDS), myocarditis, pericardial effusion, paroxysmal supraventricular tachycardia (PSVT), myositis, acute kidney injury (AKI), hemophagocytic syndrome and disseminated intravascular coagulopathy (DIC). Platelet count did not always correlate well with the severity of bleeding. There were six deaths (2.4 %) and out of them four presented with impaired consciousness (66.6 %). The common causes for poor outcome were multiorgan failure, encephalopathy and refractory shock. The atypical manifestations of dengue fever are no more a rare entity. Clinicians should have a high index of suspicion and vigilance for atypical manifestations of

  18. An Erupted Dilated Odontoma: A Rare Presentation

    Directory of Open Access Journals (Sweden)

    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.

  19. An Erupted Dilated Odontoma: A Rare Presentation

    Science.gov (United States)

    Sharma, Gaurav; Nagra, Amritpreet; Singh, Gurkeerat; Nagpal, Archna; Soin, Atul; Bhardwaj, Vishal

    2016-01-01

    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. PMID:26989523

  20. An Erupted Dilated Odontoma: A Rare Presentation.

    Science.gov (United States)

    Sharma, Gaurav; Nagra, Amritpreet; Singh, Gurkeerat; Nagpal, Archna; Soin, Atul; Bhardwaj, Vishal

    2016-01-01

    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.

  1. Gastrointestinal manifestations of food allergies.

    Science.gov (United States)

    Wolfe, Jaime Liou; Aceves, Seema S

    2011-04-01

    The rates of eosinophilic gastrointestinal disorders appear to be increasing. The most common of these is eosinophilic esophagitis (EoE) which is a clinicopathologic condition consisting of characteristic symptoms and endoscopic features accompanied by a pan-esophageal, acid resistant epithelial eosinophilia of greater than equal to 15 per high power field. Typical symptoms include dysphagia and abdominal pain. Typical endoscopic features include pallor, plaques, furrows, concentric rings. Complications include food impactions and strictures. EoE resolution with food elimination diets provides evidence that EoE is a food-antigen driven process. In vitro and microarray studies have identified specific immunologic factors underlying EoE pathogenesis. Other gastrointestinal manifestations of food intolerances/allergy include food protein induced enterocolitis syndrome.

  2. Ocular manifestations of mitochondrial disease

    Directory of Open Access Journals (Sweden)

    S. D. Mathebula

    2012-12-01

    Full Text Available Mitochondrial disease caused by mutations in mitochondrial DNA is recognized as one of the most common causes of inherited neurological disease. Neuro-ophthalmic manifestations are a common feature of mitochondrial disease.  Optic atrophy causing central visual loss is the dominant feature of mitochondrial DNA diseases. Nystagmus is also encountered in mitochondrial disease.Although optometrists are not involved with the management of mitochondrial disease, they are likely to see more patients with this disease. Oph-thalmic examination forms part of the clinical assessment of mitochondrial disease. Mitochondrial disease should be suspected in any patient with unexplained optic neuropathy, ophthalmoplegia, pigmentary retinopathy or retrochiasmal visual loss. Despite considerable advances in the under-standing of mitochondrial genetics and the patho-genesis of mtDNA diseases, no effective treatment options are currently available for patients withmitochondrial dysfunction. (S Afr Optom 201271(1 46-50

  3. Atypical Cutaneous Manifestations in Syphilis.

    Science.gov (United States)

    Ivars Lleó, M; Clavo Escribano, P; Menéndez Prieto, B

    2016-05-01

    Although the diversity of the clinical manifestations of syphilis is well-known, atypical presentations can also occur. Such atypical presentations are associated with a high risk of transmission as a result of diagnostic confusion and treatment delays owing to the disease's ability to mimic other common skin diseases, deviate from classic clinical presentations, and adopt unique forms. Cases of atypical syphilis have been described most frequently in patients with concomitant human immunodeficiency virus (HIV) infection. Because the incidence of syphilis has been growing over recent years -particularly in patients with HIV co-infection- dermatologists need to be familiar with the less well-known clinical presentations of this venereal disease. Copyright © 2015 AEDV. Published by Elsevier España, S.L.U. All rights reserved.

  4. [Pulmonary manifestations in rheumatoid arthritis].

    Science.gov (United States)

    Morawska, Justyna; Domysławska, Izabela; Bagrowska, Magdalena; Sierakowski, Stanislaw

    2015-01-01

    Rheumatoid arthritis (RA) is a chronic inflammatory disease characterized by destructive cartilages, bones and other structures formed joints. RA belongs to connective tissue diseases represented by systemic nature, internal illness, extra-articular features and rapidly progress of atherosceirosis. The extra-articular complications cause the reduction of patient longevity. The frequency of symptoms in patient with RA and respiratory disorders occur in 10-20% of cases. Pulmonary complications are the second most common cause of premature of patient deaths. Respiratory disorders associated with RA are devided into 3 groups: infection, lung disease caused by drugs and pulmonary manifestation connected by RA. These last affect interstitial tissue, bronchioli, pulmonary vessels, pleura, also are presented by pulmonary rheumatoid nodules and pulmonary hypertension.

  5. Oropharyngeal dysphagia: manifestations and diagnosis.

    Science.gov (United States)

    Rommel, Nathalie; Hamdy, Shaheen

    2016-01-01

    Swallowing disorders (dysphagia) have been recognized by the WHO as a medical disability associated with increased morbidity, mortality and costs of care. With increasing survival rates and ageing of the population, swallowing disorders and their role in causing pulmonary and nutritional pathologies are becoming exceedingly important. Over the past two decades, the study of oropharyngeal dysphagia has been approached from various disciplines with considerable progress in understanding its pathophysiology. This Review describes the most frequent manifestations of oropharyngeal dysphagia and the clinical as well as instrumental techniques that are available to diagnose patients with dysphagia. However, the clinical value of these diagnostic tests and their sensitivity to predict outcomes is limited. Despite considerable clinical research efforts, conventional diagnostic methods for oropharyngeal dysphagia have limited proven accuracy in predicting aspiration and respiratory disease. We contend that incorporation of measurable objective assessments into clinical diagnosis is needed and might be key in developing novel therapeutic strategies.

  6. Mucocutaneous manifestations of Chikungunya fever

    Directory of Open Access Journals (Sweden)

    Bandyopadhyay Debabrata

    2010-01-01

    Full Text Available Chikungunya fever (CF is an arboviral acute febrile illness transmitted by the bite of infected Aedes mosquitoes. After a quiescence of more than three decades, CF has recently re-emerged as a major public health problem of global scale. CF is characterized by an acute onset of high fever associated with a severe disabling arthritis often accompanied by prominent mucocutaneous manifestations. The disease is usually self-limiting, but the joint symptoms and some of the cutaneous features may persist after the defervescence. A wide range of mucocutaneous changes has been described to occur in association with CF during the current epidemic. Besides a morbilliform erythema, hyperpigmentation, xerosis, excoriated papules, aphthous-like ulcers, vesiculobullous and lichenoid eruptions, and exacerbation of pre-existing or quiescent dermatoses had been observed frequently. These unusual features may help in the clinical differential diagnosis of acute viral exanthems mimicking CF.

  7. Necrolytic Migratory Erythema as the First Manifestation of Glucagonoma

    Directory of Open Access Journals (Sweden)

    Abolfazl Afsharfard

    2012-01-01

    Full Text Available Necrolytic migratory erythma (NME as a rare skin disorder that can affected Perineum, distal extremities, lower abdomen and face are the most commonly affected sites.It can be as a part of Glucagonoma syndrome that is defined as an association of glucagonoma with NME, hyperglucagonemia, glucose intolerance, anemia and weight loss. Here, Authors describe a woman admitted to the dermatology ward with NME which was later found to be associated with glucagonoma and multiple hepatic lesions.

  8. Extremely Preterm Birth

    Science.gov (United States)

    ... Events Advocacy For Patients About ACOG Extremely Preterm Birth Home For Patients Search FAQs Extremely Preterm Birth ... Spanish FAQ173, June 2016 PDF Format Extremely Preterm Birth Pregnancy When is a baby considered “preterm” or “ ...

  9. Discrete Papular Mucinosis-A Rare Subtype of Lichen Myxoedematosus

    Directory of Open Access Journals (Sweden)

    Havva Kaya Akış

    2011-06-01

    Full Text Available Lichen myxoedematosus (synonym, papular mucinosis is an uncommon, chronic, idiopathic disorder characterized by lichenoid papules, nodules and/or plaques due to dermal mucin deposition and a variable degree of fibrosis in the absence of thyroid dysfunction. Actually, lichen myxoedematosus includes two clinicopathologic subsets: a generalized papular and sclerodermoid form (also called scleromyxedema with a monoclonal gammopathy and systemic, even lethal, manifestations and a localized papular form with non-disabling course. Discrete papular mucinosis is a rare subtype of the localized form and can be associated with hepatitis C virus and human immunodeficiency virus (HIV infection. Only 12 cases unrelated to HCV or HIV infection have been described in the literature to date. Herein, we report a 64-year-old woman who presented with asymptomatic, flat, flesh-coloured papules on her neck, upper trunk and proximal extremities. A skin biopsy from a papule on her neck demonstrated dermal mucin deposition after alcian blue staining. The number of fibroblasts was increased. Laboratory studies revealed normal thyroid function tests. Serum protein electrophoresis did not show any evidence of a monoclonal gammopathy. Serology tests for HCV and HIV were negative.

  10. Facial diplegia: etiology, clinical manifestations, and diagnostic evaluation

    Directory of Open Access Journals (Sweden)

    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.

  11. Central nervous system manifestations of neonatal lupus: a systematic review.

    Science.gov (United States)

    Chen, C C; Lin, K-L; Chen, C-L; Wong, A May-Kuen; Huang, J-L

    2013-12-01

    Neonatal lupus is a rare and acquired autoimmune disease. Central nervous system abnormalities are potential manifestations in neonatal lupus. Through a systematic literature review, we analyzed the clinical features of previously reported neonatal lupus cases where central nervous system abnormalities had been identified. Most reported neonatal lupus patients with central nervous system involvement were neuroimaging-determined and asymptomatic. Only seven neonatal lupus cases were identified as having a symptomatic central nervous system abnormality which caused physical disability or required neurosurgery. A high percentage of these neurosymptomatic neonatal lupus patients had experienced a transient cutaneous skin rash and had no maternal history of autoimmune disease before pregnancy.

  12. Xanthogranulomatous prostatitis: Rare presentation of rare disease

    Directory of Open Access Journals (Sweden)

    Rohan S Valsangkar

    2012-01-01

    Full Text Available Granulomatous inflammation of the prostate is a rare type of inflammation of the prostate. It is of various types, with the non-specific type of granulomatous inflammation being the most common. Xanthogranulomatous prostatitis is a rare type of granulomatous prostatitis of which very few cases have been reported. Histologically it is characterized by the presence of pale-looking foamy macrophages. It can be an incidental finding after transurethral resection of the prostate (TURP, although it may mimic prostatic malignancy clinically, biochemically, and rarely histologically. We report a rare case of xanthogranulomatous prostatitis which presented as a prostatic abscess, a presentation never reported in literature so far. The patient was managed with TURP.

  13. [Cellulitis: clinical manifestations and management].

    Science.gov (United States)

    Blum, C-L; Menzinger, S; Genné, D

    2013-10-09

    Cellulitis is an acute bacterial non-necrotizing dermal-hypodermal infection predominantly affecting the lower limbs. It is characterised by a circumscribed erythema with a raised border and fever. The predisposing factors are skin wounds, edema from any cause and systemic factors (diabetes, immunosuppression). The diagnosis is clinical and the most common complication is recurrence. Other complications include local abscess, fasciitis and bacteremia. The germ is rarely identified. The majority of infections (85%) is due to group A beta-hemolytic streptococcus. The treatment of cellulitis consists of an association of an antibiotic with rest of the concerned area.

  14. Hepatic manifestations of celiac disease

    Directory of Open Access Journals (Sweden)

    Hugh James Freeman

    2010-05-01

    Full Text Available Hugh James FreemanDepartment of Medicine (Gastroenterology, University of British Columbia, Vancouver, British Columbia, CanadaAbstract: Different hepatic and biliary tract disorders may occur with celiac disease. Some have been hypothesized to share genetic or immunopathogenetic factors, such as primary biliary cirrhosis, primary sclerosing cholangitis, and autoimmune hepatitis. Other hepatic changes in celiac disease may occur with malnutrition resulting from impaired nutrient absorption, including hepatic steatosis. In addition, celiac disease may be associated with rare hepatic complications, such as hepatic T-cell lymphoma.Keywords: celiac disease, autoimmune liver disease, primary biliary cirrhosis, fatty liver, gluten-free diet

  15. Unusual association of Meckel's diverticulum with double appendix – A rare finding

    OpenAIRE

    Sangram Keshari Panda; C. Prasad; Roshni Tirkey; V. Rajesh; Jagadananda Mishra; Rajesh Kumar Dora

    2014-01-01

    INTRODUCTION: Appendix duplication is an extremely rare congenital anomaly that is seen in 0.004–0.009% of appendectomy specimens. Duplicated appendix may be associated with number of congenital anomalies. PRESENTATION OF CASE: In this case report, we are presenting a rare case of duplicated vermiform appendix with a co-existing Meckel's diverticulum. DISCUSSION: Anomalies of appendix are rare and duplication of vermiform appendix is extremely rare. In 1936, Cave classified appendiceal ...

  16. Mood Disorder as the Presenting Manifestation of Demyelination

    Directory of Open Access Journals (Sweden)

    D. Tapos

    2013-05-01

    Full Text Available Objective: To report an unusual presenting manifestation of multiple sclerosis in a teenager. Case Report: We report the case of a 16-year-old male who was diagnosed with schizoaffective disorder a year prior to his neurological consultation. Neurological examination showed evidence of mild lower extremity spasticity with ataxia and dysarthria. Imaging revealed lesions suggestive of multiple sclerosis. Conclusion: An organic basis for psychiatric disorders is often overlooked. Children presenting with symptoms suggestive of a mood disorder, decline in cognition or psychosis deserve a detailed neurological examination and appropriate imaging if indicated, before starting them on antidepressant or neuroleptic medication.

  17. Vasculitis: an unusual manifestation in an HIV-infected patient

    Directory of Open Access Journals (Sweden)

    Ana Manuel

    Full Text Available Human immunodeficiency virus (HIV positive patients may develop vasculitis, either mediated by immunological factors or by direct vascular injury. We describe a patient who developed manifestations suggestive of extremities vasculitis with no identifiable risk factors other than HIV, Epstein Barr and Herpes Simplex Virus (HSV type 1 co-infection. Physicians should be aware that vasculitis may have a heterogeneous presentation and occur associated with HIV infection. Although unusual, this association should be recognized for early proper treatment and prevention of ischemia.

  18. Rare Disorders and Diseases

    Science.gov (United States)

    Umlauf, Mary; Monaco, Jana; FitzZaland, Mary; FitzZaland, Richard; Novitsky, Scott

    2008-01-01

    According to the National Organization for Rare Disorders (NORD), a rare or "orphan" disease affects fewer than 200,000 people in the United States. There are more than 6,000 rare disorders that, taken together, affect approximately 25 million Americans. "Exceptional Parent" ("EP") recognizes that when a disorder affects a child or adult, it…

  19. Cutaneous manifestations in patients with chronic renal failure on hemodialysis

    Directory of Open Access Journals (Sweden)

    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.

  20. Supraclavicular Lymphadenopathy: Initial Manifestation of Metastasis in Carcinoma of Cervix

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    Mutahir A. Tunio

    2013-01-01

    Full Text Available Introduction. Carcinoma of cervix rarely metastasizes to cervical lymph nodes and is associated with poor prognosis. To date, only few case reports have been reported in the medical literature. Here, we report a case of this unusual manifestation of carcinoma of cervix. Case Presentation. A 39-year-old Saudi woman who was treated three years ago for bulky IB stage carcinoma of cervix with total abdominal hysterectomy and bilateral salpingo-oophorectomy and adjuvant chemoradiation presented to us during her routine follow-up visit with left supraclavicular lymphadenopathy. Staging workup revealed additional para-aortic nodal and osseous metastases. The biopsy of left supraclavicular mass confirmed the diagnosis of carcinoma of the cervix. Patient was started on chemotherapy and bisphosphonates. Conclusion. Supraclavicular lymph nodes are a rare site of metastasis in carcinoma of cervix, and this can be explained by outlining the drainage of the lymphatic system from the cervix. Supraclavicular lymphadenopathy is associated with variable prognosis.

  1. New results of the extreme multiplicity studies

    CERN Document Server

    Kokoulina, E; Petukhov, Yu; Karpov, A; Kutov, A

    2009-01-01

    Extreme multiplicity studies at 50 GeV in pp interactions are discussed. Preliminary multiplicity distributions at U-70 (IHEP, Protvino) energy have been obtained for more than 20 charged particles. A new elaborated algorithm for the track reconstruction in a drift tube tracker and magnetic spectrometer, has been checked . The collective behavior of secondary particles is manifested in these interactions in the extreme multiplicity region. For the first time the ring events in pp interactions have been observed in this region. A possibility of detecting the Bose-Einstein condensation detection is discussed.

  2. Collagenous Gastritis: A Rare Entity

    Directory of Open Access Journals (Sweden)

    Faten Limaiem

    2015-06-01

    Full Text Available Collagenous gastritis is a rare entity of unknown etiology characterized histologically by the presence of a thick subepithelial collagen band associated with an inflammatory infiltrate of gastric mucosa. A 40-year-old male presented with a history of chronic intermittent abdominal pain for about 6 months. Physical examination was unremarkable, and biological tests were within normal range. The patient underwent esophagogastroduodenoscopy and colonoscopy which showed a nodular mucosa of the stomach. Biopsies of the duodenum and colon were unremarkable. However, biopsies of the gastric fundus revealed a mild chronic gastritis characterized by lymphocytic and plasma cell infiltration of deep mucosa, without lymphoid follicle formation or active inflammation. No microorganisms were identified on routine hematoxylin and eosin or Giemsa-stained sections. Subepithelial collagen in the gastric biopsies was thickened and showed entrapped capillaries. Subepithelial collagen was highlighted by Masson's trichrome staining and was negative for amyloid by Congo Red. In the areas containing thickened collagen, there were no intraepithelial lymphocytes. The final pathological diagnosis was collagenous gastritis. Collagenous gastritis is an extremely rare disease, but it is important to recognize its characteristic endoscopic and pathologic findings to make a correct diagnosis. Specific therapy for this rare entity has not yet been established. [J Interdiscipl Histopathol 2015; 3(2.000: 68-70

  3. Orbital lymphomatoid granulomatosis - a rare cause of proptosis

    Energy Technology Data Exchange (ETDEWEB)

    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.)

  4. A rare case of morgagni diaphragmatic hernia presenting in pregnancy.

    Science.gov (United States)

    Thomas, Vijy Paul

    2012-08-01

    A case of Morgagni hernia presenting in adulthood is presented. This form of congenital diaphragmatic hernia is rare in itself and is known to present in adulthood in some cases. But presentation after having undergone three surgeries-PDA ligation, appendicectomy and a full term pregnancy followed by LSCS is even rarer. This case is therefore by any yardstick an extremely rare one.

  5. [EEG manifestations in metabolic encephalopathy].

    Science.gov (United States)

    Lin, Chou-Ching K

    2005-09-01

    Normal brain function depends on normal neuronal metabolism, which is closely related to systemic homeostasis of metabolites, such as glucose, electrolytes, amino acids and ammonia. "Metabolic encephalopathy" indicates diffuse brain dysfunction caused by various systemic derangements. Electroencephalogram (EEG) is widely used to evaluate metabolic encephalopathy since 1937, when Berger first observed slow brain activity induced by hypoglycemia. EEG is most useful in differentiating organic from psychiatric conditions, identifying epileptogenicity, and providing information about the degree of cortical or subcortical dysfunction. In metabolic encephalopathy, EEG evolution generally correlates well with the severity of encephalopathy. However, EEG has little specificity in differentiating etiologies in metabolic encephalopathy. For example, though triphasic waves are most frequently mentioned in hepatic encephalopathy, they can also be seen in uremic encephalopathy, or even in aged psychiatric patients treated with lithium. Spike-and-waves may appear in hyper- or hypo-glycemia, uremic encephalopathy, or vitamin deficiencies, etc. Common principles of EEG changes in metabolic encephalopathy are (1) varied degrees of slowing, (2) assorted mixtures of epileptic discharge, (3) high incidence of triphasic waves, and (4), as a rule, reversibility after treatment of underlying causes. There are some exceptions to the above descriptions in specific metabolic disorders and EEG manifestations are highly individualized.

  6. Rheumatic manifestations of pituitary tumors.

    Science.gov (United States)

    Stavrou, S; Kleinberg, D L

    2001-10-01

    Pituitary tumors may cause rheumatologic problems as a result of under production or overproduction of one pituitary hormone. Excessive growth hormone causes destruction of cartilage by a direct action. Facial and acral changes and arthralgias may be some of the first symptoms of acromegaly. The arthritis associated with acromegaly is often devastating. Carpal tunnel syndrome is very common in patients with acromegaly. Adrenocorticotropin (ACTH) has indirect effects via the action of glucocorticoid on bones, muscles, and the immune system. Proximal muscle weakness is a characteristic feature of Cushing's syndrome. Patients with Cushing's syndrome commonly have osteopenia and osteoporosis that lead to an increase in bone fractures. Avascular necrosis is associated with exogenous steroid administration. The effects of too much glucocorticoid or too rapid withdrawal can be severe. Gonadotropins act via the gonadal steroids and protect bone mass from loss. Prolactin is less involved in rheumatologic disease; the data for which are limited in humans. Pituitary tumors can have manifestations similar to rheumatologic disorders and should be included in the differential diagnosis of these diseases.

  7. Mucocutaneous manifestations of HIV infection

    Directory of Open Access Journals (Sweden)

    Shobhana A

    2004-03-01

    Full Text Available BACKGROUND AND AIMS: Human immunodeficiency virus (HIV is associated with various mucocutaneous features, which may be the first pointer towards the existence of HIV infection. This study was done to note the different mucocutaneous lesions present in the HIV population in eastern India. METHODS: Four hundred and ten HIV seropositive patients attending the outpatient and inpatient departments were included in the study. RESULTS: Out of 410 HIV positives, 40% had mucocutaneous involvement at presentation. The mean age of the study population was 29 years and male to female ratio was 2.5:1. The common mucocutaneous morbidities included oral candidiasis (36%, dermatophytosis and gingivitis (13% each, herpes zoster (6%, herpes simplex and scabies (5% each. A striking feature, noted in 36% males, was straightening of hairs. Genital herpes was the commonest genital ulcer disease. Lesions associated with declining immunity included oral candidiasis, oral hairy leukoplakia and herpes zoster with median CD4 counts of 98, 62 and 198/ L respectively. CONCLUSION: Early recognition of mucocutaneous manifestations and associated STDs help in better management of HIV/AIDS.

  8. Respiratory manifestations in endocrine diseases.

    Science.gov (United States)

    Lencu, Codruţa; Alexescu, Teodora; Petrulea, Mirela; Lencu, Monica

    2016-01-01

    The control mechanisms of respiration as a vital function are complex: voluntary - cortical, and involuntary - metabolic, neural, emotional and endocrine. Hormones and hypothalamic neuropeptides (that act as neurotrasmitters and neuromodulators in the central nervous system) play a role in the regulation of respiration and in bronchopulmonary morphology. This article presents respiratory manifestations in adult endocrine diseases that evolve with hormone deficit or hypersecretion. In hyperthyroidism, patients develop ventilation disorders, obstructive and central sleep apnea, and pleural collection. The respiratory abnormalities in hyperthyroidism as a result of the hypermetabolic action of thyroid hormones are hyperventilation, myopathy and cardiovascular involvement; recent studies have reported pulmonary arterial hypertension in Graves' disease, as a result of the association of several mechanisms. Thyroid hypertrophy can induce through compression of the upper airways dyspnea, stridor, wheezing and cough. The respiratory disorders in acromegaly are ventilatory dysfunction and sleep apnea, which contribute to an unfavorable evolution of the disease. Respiratory changes in parathyroid, adrenal and reproductive system diseases have been described. Respiratory disorders should be recognized, investigated and monitored by medical practitioners of various specialties (family physicians, internists, endocrinologists, pneumologists, cardiologists). They are frequently severe, causing an unfavorable evolution of the associated endocrine and respiratory disease.

  9. Extracardiac manifestations of bacterial endocarditis.

    Science.gov (United States)

    Heffner, J E

    1979-08-01

    Bacterial endocarditis is an elusive disease that challenges clinicians' diagnostic capabilities. Because it can present with various combinations of extravalvular signs and symptoms, the underlying primary disease can go unnoticed.A review of the various extracardiac manifestations of bacterial endocarditis suggests three main patterns by which the valvular infection can be obscured. (1) A major clinical event may be so dramatic that subtle evidence of endocarditis is overlooked. The rupture of a mycotic aneurysm may simulate a subarachnoid hemorrhage from a congenital aneurysm. (2) The symptoms of bacterial endocarditis may be constitutional complaints easily attributable to a routine, trivial illness. Symptoms of low-grade fever, myalgias, back pain and anorexia may mimic a viral syndrome. (3) Endocarditis poses a difficult diagnostic dilemma when it generates constellations of findings that are classic for other disorders. Complaints of arthritis and arthralgias accompanied by hematuria and antinuclear antibody may suggest systemic lupus erythematosus; a renal biopsy study showing diffuse proliferative glomerulonephritis may support this diagnosis. The combination of fever, petechiae, altered mental status, thrombocytopenia, azotemia and anemia may promote the diagnosis of thrombotic thrombocytopenic purpura. When the protean guises of bacterial endocarditis create these clinical difficulties, errors in diagnosis occur and appropriate therapy is delayed. Keen awareness of the varied disease presentations will improve success in managing endocarditis by fostering rapid diagnosis and prompt therapy.

  10. Pelvic hydatid cyst with uncommon sciatalgia manifestation: a case report

    Directory of Open Access Journals (Sweden)

    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.

  11. Multidimensional extremal dependence coefficients

    OpenAIRE

    2017-01-01

    Extreme values modeling has attracting the attention of researchers in diverse areas such as the environment, engineering, or finance. Multivariate extreme value distributions are particularly suitable to model the tails of multidimensional phenomena. The analysis of the dependence among multivariate maxima is useful to evaluate risk. Here we present new multivariate extreme value models, as well as, coefficients to assess multivariate extremal dependence.

  12. The European Extreme Right and Religious Extremism

    Directory of Open Access Journals (Sweden)

    Jean-Yves Camus

    2007-12-01

    Full Text Available The ideology of the Extreme Right in Western Europe is rooted in Catholic fundamentalism and Counter-Revolutionary ideas. However, the Extreme Right, like all other political families, has had to adjust to an increasingly secular society. The old link between religion and the Extreme Right has thus been broken and in fact already was when Fascism overtook Europe: Fascism was secular, sometimes even anti-religious, in its essence. Although Catholic fundamentalists still retain strong positions within the apparatus of several Extreme Right parties (Front National, the vote for the Extreme Right is generally weak among regular churchgoers and strong among non-believers. In several countries, the vote for the Extreme Right is stronger among Protestant voters than among Catholics, since while Catholics may support Christian-Democratic parties, there are very few political parties linked to Protestant churches. Presently, it also seems that Paganism is becoming the dominant religious creed within the Extreme Right. In a multicultural Europe, non-Christian forms of religious fundamentalism such as Islamism also exist with ideological similarities to the Extreme Right, but this is not sufficient to categorize Islamism as a form of Fascism. Some Islamist groups seek alliances with the Extreme Right on the basis of their common dislike for Israel and the West, globalization and individual freedom of thought.

  13. Varied manifestations of tuberous sclerosis

    Directory of Open Access Journals (Sweden)

    Nikhil Gupta

    2015-01-01

    Full Text Available Tuberous sclerosis complex (TSC is a rare autosomal dominant disease. The prevalence of TSC is estimated to be 1 in 95,136 in general population and in those <6 years of age, it is 1 in 14,608. It is an autosomal dominant neurocutaenous disease and in about 80% of cases it is caused by a de novo mutation. The relationship between cardiac rhabdomyomas and TSC is well established. The cardiac rhabdomyomas may arise anywhere in the myocardium but are more commonly seen in the left ventricle. However, in our case an interventricular septal rhabdomyoma was seen. Angiomyolipomas (AMLs occur in up to 80% of patients with TSC. Bilateral renal AMLs were seen in our case. There was evidence of systemic involvement in form of lymphangiomyomatosis and subependymal hamartomas.

  14. Chloracne. Clinical manifestations and etiology

    Energy Technology Data Exchange (ETDEWEB)

    Zugerman, C. (Northwestern Univ., Chicago, IL (USA))

    1990-01-01

    Chloracne is a rare but important acneiform eruption often associated with the ingestion of chlorinated phenolic agents such as dioxins with subsequent toxicity from these chemicals. Clinically, chloracne can be distinguished from acne vulgaris by the distribution and appearance of the lesions and by taking a detailed history. In some instances, it may be associated with particularly xerotic skin, pigmentation, follicular hyperkeratosis, conjunctivitis, and actinic elastosis. Histologically, the primary lesion is a follicular plug containing keratinous material. Chloracne is difficult if not impossible to treat adequately and once present, may persist for years. Consequently, good hygiene, safe manufacturing processes so that no inhalation or skin contact is possible, and the elimination of atmospheric contamination are all necessary in the prevention of this potentially debilitating disease.34 references.

  15. Intracranial manifestations of malignant lymphomas

    Energy Technology Data Exchange (ETDEWEB)

    Galanski, M.; Fahrendorf, G.; Urbanitz, D.; Beckmann, A.; Elger, C.

    1985-06-01

    Approximately 10% of patients with malignant lymphoma will show neurological symptoms at some time during the course of their illness. In non-Hodgkin lymphoma, CNS involvement is more frequent than in Hodgkin's disease. Diffuse histiocytic and poorly differentiated lymphomas, bone marrow involvement, advanced tumor stage and hematogenous spread are particular risk factors. Invasion of the spinal canal is the most common type of CNS involvement. Intracranial lesions, which are comparatively rare, may present as intracerebral metastases, epi- or subdural masses or focal or diffuse leptomeningeal disease. Lymphomatous leptomeningitis usually cannot be demonstrated by CT. On the other hand, dural and cerebral parenchymal lesions are sometimes highly characteristic of lymphoma as a result of their features and location.

  16. Rare case of gastrointestinal stromal tumor of the anal canal

    Directory of Open Access Journals (Sweden)

    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.

  17. Triplication in permanent teeth: A rare case report

    Directory of Open Access Journals (Sweden)

    Nidhi Gera

    2017-01-01

    Full Text Available Fusion is an anomaly manifested in both deciduous and permanent dentitions. Triple tooth refers to the union of three separate tooth entities. It can involve the normal dentition or supernumerary teeth. Triplication is rarely encountered in deciduous and permanent dentition with an incidence of 0.02%. The case presented herein describes a rare case of triplication in permanent maxillary incisors and supernumerary teeth in a 15-year-old female.

  18. Nevus of Ota”- A Rare Pigmentation Disorder with Intraoral Findings

    Science.gov (United States)

    Gupta, Sarika; Sharma, Nisha; Singh, Meenakshi; Bhateja, Sumit

    2014-01-01

    Nevus of Ota is a dermal melanocytosis seen along the distribution of ophthalmic and maxillary divisions of the trigeminal nerve. Only 12 cases so far have been reported in English literature and it is rare in Indian subcontinent. Most of the cases reported are in females and oral cavity is infrequently involved. Here, we report a rare case of unilateral Nevus of Ota in a 56-year-old male with oral manifestations. PMID:25302286

  19. Extrahepatic manifestations of hepatitis E virus.

    Science.gov (United States)

    Kamar, Nassim; Marion, Olivier; Abravanel, Florence; Izopet, Jacques; Dalton, Harry R

    2016-04-01

    Hepatitis E virus can cause acute, fulminant and chronic hepatitis and has been associated with a range of extrahepatic manifestations. Guillain-Barré syndrome, neuralgic amyotrophy and encephalitis are the main neurological manifestations associated with acute and chronic hepatitis E virus infection. Renal injuries have been also reported, including membranoproliferative glomerulonephritis with or without cryoglobulinemia and membranous glomerulonephritis. Acute pancreatitis, haematological disorders and other autoimmune extrahepatic manifestations of hepatitis E virus, such as myocarditis and thyroiditis, have been also reported. In this comprehensive article, we review all published reports describing hepatitis E virus-associated extrahepatic manifestations.

  20. Paediatric manifestations of Langerhans cell histiocytosis: a review of the clinical and radiological findings

    Energy Technology Data Exchange (ETDEWEB)

    Kilborn, T.N.; Teh, J.; Goodman, T.R

    2003-04-01

    Langerhans cell histiocytosis is a rare disease in children. However, its ability to present in many ways, to mimic other conditions, and to manifest itself in many organs makes it a fascinating disease for radiologists. This article reviews the history of the disease, the features that are most useful in determining prognosis, and the various radiological findings seen in paediatric patients.

  1. Cleidocranial dysplasia - review with an emphasis on otological and audiological manifestations.

    Science.gov (United States)

    Segal, Nili; Puterman, Moshe

    2007-04-01

    Cleidocranial dysplasia is a rare developmental abnormality of bone that affects both the skeleton and the temporal bone. It is genetically characterized and the clinical signs and symptoms can be diverse. Aural pathologies may be the presenting symptoms of the disease. We reviewed the up to date literature on the syndrome with an emphasis on the otological and audiological manifestation.

  2. 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.

  3. 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.

  4. Electrocardiographic Manifestations of Benzodiazepine Toxicity

    Directory of Open Access Journals (Sweden)

    Nahid Kazemzadeh

    2014-11-01

    Full Text Available Background: The aim of this study was to evaluate and compare the clinical and electrocardiographic (ECG manifestations of benzodiazepines (BZs. Methods: In this retrospective study, all BZ-poisoned patients hospitalized at Loghman Hakim Hospital between September 2010 and March 2011 were evaluated. Patients’ information including age, sex, time elapsed between the ingestion and presentation, and type of the BZ used were extracted from the patients' charts and recorded. ECGs on presentation to the emergency department (ED were evaluated and parameters such as PR interval, QRS duration, corrected QT, amplitude of S wave in lead I, height of R wave and R/S ratio in the lead aVR were also measured and recorded. Results: Oxazepam, chlordiazepoxide, lorazepam, alprazolam, diazepam, and clonazepam were ingested by 9 (3%, 13 (4.4%, 29 (9.9%, 105 (35.8%, 65 (22.2%, and 72 (24.6% patients, respectively. Mean PR interval was reported to be 0.16 ± 0.03 sec and PR interval of greater than 200 msec was detected in 12 (4.5% patients. Mean QRS duration was 0.07 ± 0.01sec and QRS≥120 msec was observed in 7 (2.6% cases. Conclusion: Diazepam is the only BZ that does not cause QRS widening and oxazepam is the only one not causing PR prolongation. It can be concluded that if a patient refers with a decreased level of consciousness and accompanying signs of BZ toxicity, QRS widening in ECG rules out diazepam, whereas PR prolongation rules out oxazepam toxicity.

  5. Gastrointestinal manifestations in cystic fibrosis.

    Science.gov (United States)

    Eggermont, E

    1996-08-01

    CFTR, or cystic fibrosis transmembrane conductance regulator, the gene product that is defective in cystic fibrosis, is present in the apical membrane of the epithelial cells from the stomach to the colon. In the foregut, the clinical manifestations are not directly related to the primary defect of the CFTR chloride channel. The most troublesome complaints and symptoms originate from the oesophagus as peptic oesophagitis or oesophageal varices. In the small intestinal wall, the clinical expression of CF depends largely on the decreased secretion of fluid and chloride ions, the increased permeability of the paracellular space between adjacent enterocytes and the sticky mucous cover over the enterocytes. As a rule, the brush border enzyme activities are normal and there is some enhanced active transport as shown for glucose and alanine. The results of continuous enteral feeding of CF patients clearly show that the small intestinal mucosa, in the daily situation, is not functioning at maximal capacity. Although CFTR expression in the colon is lower, the large intestine may be the site of several serious complications such as rectal prolapse, meconium ileus equivalent, intussusception, volvulus and silent appendicitis. In recent years colonic strictures, after the use of high-dose pancreatic enzymes, are being increasingly reported; the condition has recently been called CF fibrosing colonopathy. The CF gastrointestinal content itself differs mainly from the normal condition by the lower acidity in the foregut and the accretion of mucins and proteins, eventually resulting in intestinal obstruction, in the ileum and colon. Better understanding of the CF gastrointestinal phenotype may contribute to improvement of the overall wellbeing of these patients.

  6. Endocrine manifestations of celiac disease

    Directory of Open Access Journals (Sweden)

    R Philip

    2012-01-01

    Full Text Available Background: Celiac disease can have extra gastrointestinal tract (GIT presentations, most of which are endocrine. The aim of this study was to present patients diagnosed to have celiac disease from an endocrine department and to study the prevalence of endocrinopathies in celiac disease. Materials and Methods: A total of 36 patients from the endocrinology department (LLRM Medical College, Meerut between January 2011 and July 2012 and who were diagnosed to have celiac disease were included in the study. Results: Short stature was the commonest presentation (25%, other presentations included short stature and delayed puberty (20%, delayed puberty (11%, screening for celiac disease in type-1 DM patients (17%, rickets (6%, anemia not responding to oral therapy (6%, type-1 DM with recurrent hypoglycaemia (6%, and osteomalacia (3%. The endocrine manifestations include (after complete evaluation short stature (58%, delayed puberty (31%, elevated alkaline phospahatase (67%, low calcium (22%, X-rays suggestive of osteomalacia or rickets (8%, capopedal spasm (6%, and night blindness (6%. Anti-TPO antibody positivity was found in 53%, hypothyroidism in 28%, subclinical hypothyroidism in 17%, and type-1 DM in 25% of the patients. A total of 14% patients had no GI symptoms. Conclusion: Celiac disease is an endocrine disrupter as well as the great masquerader having varied presentations including short stature, delayed puberty, and rickets. Some patients who have celiac disease may not have any GI symptoms, making the diagnosis all the more difficult. Also, there is significant incidence of celiac disease with hypothyroidism and type-1 DM, making screening for it important in these diseases.

  7. Cystic thymic diseases: CT manifestations

    Energy Technology Data Exchange (ETDEWEB)

    Song, Soon Young; Choi, Yo Won; Jeon, Eui Yong; Jeon, Seok Chol; Seo, Heung Suk; Hahm, Chang Kok [School of Medicine, Hanyang University, Seoul (Korea, Republic of)

    1995-09-15

    To describe CT findings and differential points of cystic thymic lesions. We evaluated retrospectively total 19 masses with well marginated cystic lesions at thymic area on CT scans. They were 10 teratomas, 3 congenital thymic cysts, 2 multilocular thymic cysts(associated with thymoma and myasthenia gravis in each), 2 cysts Assciated with thymic Hodgkin's lymphomas an ectopic parathyroid cyst, and an infected thymic cyst. The radiological abnormalities evaluated were thickness of the wall, presence or abscene of septa, mural nodule, solid component, calcification and fat component. All three cases of congenital thymic cysts and an ectopic parathyroid cyst appeared as thin-walled unilocular cyst with homogeneous internal density and without identifiable solid component. In multilocular thymic cyst, there were thick wall and solid components(n =2), thick internal septa and calcifications(n = 1). The cysts of teratomas manifested thick walls(n = 9), internal septa(n = 4), calcifications(n = 6), fat components(n = 4), and solid components(n = 4). Cysts in Hodgkin's diseases appeared as multilocular or unilocular and had thick wall and septa without calcification. Infected thymic cyst presented with multilocular cystic mass with identifiable wall and septa, calcification, and solid components. The thymic diseases with cystic lesion include teratomas, congenital thymic cysts, multilocular thymic cysts, parathyroid cyst, and Hodgkin's disease. Congenital thymic cyst and ectopic parathyroid cyst are thin-walled unilocular cystic lesions. Cystic lesions associated with teratoma, Hodgkin's disease, and multilocular thymic cyst are thick-walled cystic lesions with or without solid component.

  8. Clinical manifestation of myeloperoxidase deficiency.

    Science.gov (United States)

    Lanza, F

    1998-09-01

    Myeloperoxidase (MPO), an iron-containing heme protein localized in the azurophilic granules of neutrophil granulocytes and in the lysosomes of monocytes, is involved in the killing of several micro-organisms and foreign cells, including bacteria, fungi, viruses, red cells, and malignant and nonmalignant nucleated cells. Despite the primary role of the oxygen-dependent MPO system in the destruction of certain phagocytosed microbes, subjects with total or partial MPO deficiency generally do not have an increased frequency of infections, probably because other MPO-independent mechanism(s) for microbicidal activity compensate for the lack of MPO. Infectious diseases, especially with species of Candida, have been observed predominantly in MPO-deficient patients who also have diabetes mellitus, but the frequency of such cases is very low, less than 5% of reported MPO-deficient subjects. Evidence from a number of investigators indicates that individuals with total MPO deficiency show a high incidence of malignant tumors. Since MPO-deficient PMNs exhibit in vitro a depressed lytic action against malignant human cells, it can be speculated that the neutrophil MPO system plays a central role in the tumor surveillance of the host. However, any definitive conclusion on the association between MPO deficiency and the occurrence of cancers needs to be confirmed in further clinical studies. Clinical manifestations of this disorder depend on the nature of the defect; an acquired abnormality associated with other hematological or nonhematological diseases has been occasionally described, but the primary deficiency is the form more commonly reported. Another area of interest pertinent to MPO expression is related to the use of anti-MPO monoclonal antibodies for the lineage assignment of acute leukemic cells, the definition of FAB MO acute myeloid leukemia, the identification of biphenotypic acute leukemias, and their distinction from acute leukemia with minimal phenotypic deviation

  9. Behavioral and psychiatric manifestations in Cornelia de Lange syndrome.

    Science.gov (United States)

    Grados, Marco A; Alvi, Mustafa H; Srivastava, Siddharth

    2017-03-01

    Cornelia de Lange syndrome (CdLS) is a rare genetic syndrome with clinical manifestations due to multiple affected organ systems including limbs, gastrointestinal, skin, and central nervous systems. Although the genetic basis of CdLS is now uncovered, how behavioral manifestations are associated with genetic and brain differences are less well understood. The current focused review systematically describes the main behavioral observations to date in individuals with CdLS, which have a significant impact on quality of life and adaptive functioning. The CdLS behavioral phenotype includes autistic traits as a prominent feature; however, brain imaging studies, required to understand gene-brain-behavior connections in CdLS, are scarce. Moreover, autistic features in CdLS have a greater emphasis on repetitive behaviors, including self-injurious behaviors (SIB) and expressive communication deficits, different that the core social deficit seen in idiopathic autism. Current data strongly support the use of CdLS as a model disease for repetitive behaviors and associated developmental delay manifestations. Behavioral phenotype characteristics in CdLS point to a preponderance of repetitive clinical phenomena as well as expressive verbal deficits that ought to inform specific treatment approaches in CdLS. In particular, repetitive behaviors associated with self-injury are of high negative impact on the quality of life for individuals with CdLS and their families. Treatment approaches geared to manage repetitive behaviors and self-injurious behaviors in CdLS are required in this developmental condition.

  10. 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.

  11. Immune thrombocytopenic purpura as sole manifestation in a case of acute hepatitis A.

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    Tanir, Gönül; Aydemir, Cumhur; Tuygun, Nilden; Kaya, Ozge; Yarali, Neşe

    2005-12-01

    Acute hepatitis due to hepatitis A virus is usually a benign selflimiting disease during childhood. Although many viral infections such as hepatitis B virus, Parvovirus, and Epstein-Barr virus are associated with extrahepatic autoimmune phenomena, such manifestations are rare in patients with acute hepatitis A infection. Immune thrombocytopenia is a benign, self-limiting disease in children, responding well to treatment and generally associated with viral infections. Immune thrombocytopenic purpura is rarely reported as a manifestation of acute hepatitis A. We report a five-year-old boy with immune thrombocytopenic purpura as the sole manifestation of anicteric acute hepatitis A infection. Acute hepatitis A should be included in the differential diagnosis of immune thrombocytopenic purpura.

  12. 结节性硬化症合并肾透明细胞癌的超声表现及文献复习%The sonographic manifestation of yuberous sclerosis complex with rare giant kidney cancer and review of the Literature

    Institute of Scientific and Technical Information of China (English)

    兰英; 刘燕娜; 曲国田; 陈晓慧

    2015-01-01

    Objective To explore the characteristics of ultrasonography of tuberous sclerosis complex with renal clear cell carcinoma.Methods The clinical and imaging data in the case of tuberous sclerosis complex with renal clear cell carcinoma were ret -rospectively analyzed and the relevant literature was reviewed .Results The patient received renal cancer radical nephrectomy .The pathological diagnosis was renal clear cell carcinoma .There was no tumor recurrence or distant metastasis within 6-month follow-up. Conclusion The tuberous sclerosis complex complicated with renal cell carcinoma is rarely reported .The mixed ultrasonic presence of cystic or solid echo with several calcification , and tumor periphery visible psuedocapsule encompassed with blood flow indicated the sign of renal cancer .The ultrasonic imaging may provide the early diagnostic rationale of the disease and early and kidney tumor resection .%目的:探讨结节性硬化症( tuberous sclerosis complex ,TSC)合并肾透明细胞癌的超声诊断特征。方法对1例TSC合并肾透明细胞癌患者的超声资料及临床表现进行回顾性分析并相关文献复习。结果该例患者行肾肿瘤及肾脏根治性切除术,病理诊断肾透明细胞癌。随访6月未发现肿瘤复发及转移。结论 TSC合并肾透明细胞癌临床罕见。 TSC合并肾脏巨大肿块并坏死者,超声表现为囊实性混合回声并多处钙化,瘤周可见假包膜的丰富血流环绕征象,应高度考虑肿瘤恶变可能。结合超声造影的快进慢退模式可以对该病做出诊断并及早行肿瘤及肾脏根治性切除。

  13. 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.

  14. Cutaneous manifestations of marantic endocarditis.

    Science.gov (United States)

    Kimyai-Asadi, A; Usman, A; Milani, F

    2000-04-01

    A 70-year-old patient with a history of hypertension and hypercholesterolemia was referred for evaluation of necrotic toes. The patient had a history of several cerebrovascular accidents during the previous month. Initially, she developed sudden-onset left upper extremity weakness which, over the ensuing 4 days, progressed to complete left-sided weakness. This was followed by the development of acute dysarthria. A transesophageal echocardiogram revealed moderate left ventricular hypertrophy, several vegetations on her tri-leaflet aortic valve associated with moderate aortic regurgitation, and a large right atrial thrombus with a mobile component. Bubble studies failed to reveal any septal defects. The patient's electrocardiogram was nonspecific. As serial blood cultures were negative despite fevers of up to 39.8 degrees C, the patient was treated with a 6-week course of intravenous ceftriaxone, ampicillin, gentamicin, and ciprofloxacin for a presumed diagnosis of culture-negative endocarditis. Fungal cultures of the blood were negative. The patient, however, progressed and developed several necrotic toes. Physical examination was significant for ischemic changes of the left first, second, third, and fifth toes, as well as the right first and second toes. Diffuse subungual splinter hemorrhages in the toenails, numerous 2-4-mm palpable purpuric papules on the lower extremities, and nontender hemorrhagic lesions of the soles were also noted. Peripheral and carotid pulses were intact and no carotid bruits were heard. Cardiopulmonary and abdominal examinations were unremarkable. Neurologic examination revealed a disoriented, dysarthric patient with left central facial nerve paralysis, as well as spasticity, hyperactive reflexes, and diminished strength and sensation in the left upper and lower extremities. A left visual field defect and left hemineglect were also present. The patient's last brain computerized tomogram revealed areas of low attenuation consistent with

  15. Large Pyoderma Gangrenosum-Like Ulcers: A Rare Presentation of Granulomatosis with Polyangiitis

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    Basheer Tashtoush

    2014-01-01

    Full Text Available Granulomatosis with polyangiitis (GPA, formerly known as Wegener's granulomatosis (WG, is a rare systemic vasculitis that classically manifests as necrotizing granulomas of the upper and lower respiratory tract, kidneys, and blood vessels; however, it may affect any organ system, including the skin. Cutaneous manifestations occur in up to 45% of patients during the disease course, and are the presenting feature in 9% to 14% of patients. The most common skin lesion specific to GPA is palpable purpura, with the histopathologic correlate of leukocytoclastic vasculitis. However, a wide range of clinical and histologic features may be seen. We herein report a case of a previously healthy 52-year-old Caucasian man who presented with multiple progressively enlarging painful ulcers on his face, upper extremities, back, and abdomen over a two-month period. Skin biopsies revealed pyoderma gangrenosum-like features. Serological tests were positive for PR3/c-ANCA. Six months later, the patient developed recurrent episodes of sinusitis associated with nasal bleeds and eventually nasal septum perforation. Despite aggressive treatment with Cyclophosphamide and steroids over one year, the patient had persistent nonhealing large ulcers and developed multiple lung nodules with cavitary lesions.

  16. 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.

  17. A rare case of isolated female epispadias

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    Charu Tiwari

    2016-09-01

    Full Text Available Isolated female epispadias without bladder exstrophy is an extremely rare entity. It usually presents with primary urinary incontinence and abnormal external genitalia. We describe this rare congenital anomaly in a 7-year-old girl who presented with urinary incontinence and abnormal external genitalia. She had a bifid clitoris and labia minora were widely separated. The vagina was normal. Voiding Cysto-urethrography (VCUG showed small capacity bladder with no reflux. Surgical reconstruction of the urethra, labia minora and clitoris was performed.

  18. 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.

  19. Xanthogranulomatous Prostatitis, a Rare Prostatic Entity.

    Science.gov (United States)

    Noyola, Alejandro; Gil, José Fernando; Lujano, Heriberto; Piñon, Omar; Muñoz, Gabriel; Michel, José Manuel; Garcia, Jorge; Valdez, Jorge; Morales, Omar

    2017-01-01

    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.

  20. Neurothekeoma of petrous apex: A rare entity

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    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.