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Sample records for schamberg disease uncommon

  1. Uncommon sites of hydatid disease.

    PubMed

    Prousalidis, J; Tzardinoglou, K; Sgouradis, L; Katsohis, C; Aletras, H

    1998-01-01

    Echinococcosis remains an endemic surgical problem in many Mediterranean countries. We report our experience with such cases when the disease is located in uncommon sites, outside the liver and lungs. This study was an effort similar to a previous one but with more cases and additional information. Between 1967 and 1994 a total of 49 patients suffering from hydatid cysts located in various organs other than the liver and lungs presented to our clinic. There were 28 men and 21 women, with their ages ranging from 10 to 66 years and 22 to 80 years, respectively. Among these patients, 25 had the parasitic cyst in the peritoneal cavity, 10 in the spleen, 5 in the kidney, 3 in the spinal column, 2 in the retroperitoneal space, 1 in the abdominal wall, 1 in the myocardium, 1 in the thoracic wall, and 1 in the thigh. Their hospital stay was 9 to 88 days (average 27 days). Only two patients--one with cardiac hydatidosis and one with spinal hydatidosis--died postoperatively. Three patients with multiple cysts in the peritoneum and one with cysts in the thigh had recurrences of the disease and were reoperated successfully.

  2. Clinical Experiences of Uncommon Motor Neuron Disease: Hirayama Disease

    PubMed Central

    Lee, Kyoung Hee; Choi, Dae Seob; Lee, Young Suk

    2016-01-01

    Hirayama disease, juvenile muscular atrophy of the distal upper limb, is a rare disease predominantly affecting the anterior horn cells of the cervical spinal cord in young men. This cervical myelopathy is associated with neck flexion. It should be suspected in young male patients with a chronic history of weakness and atrophy involving the upper extremities followed by clinical stability in few years. Herein, we report 2 cases of Hirayama disease on emphasis of diagnostic approach and describe the pathognomonic findings at flexion magnetic resonance imaging. PMID:27800001

  3. An uncommon presentation of an uncommon disease: relapsing polychondritis overlap with systemic lupus erythematosus.

    PubMed

    Nguyen, Michelle A; Rahnama-Moghadam, Sahand; Gilson, Robert T

    2016-01-01

    Relapsing polychondritis (RP) is a rare rheumatologic disorder in which recurrent episodes of inflammation result in destruction of cartilage of the ears and nose. The joints, eyes, audio-vestibular system, heart valves, respiratory tract, kidneys, and skin can also be involved. Skin involvement is most frequently linked to concomitant myelodysplastic syndrome and has rarely been associated with systemic lupus erythematosus. A 47-year-old woman presented with violaceous, indurated, tender plaques on the bilateral cartilaginous ears with sparing of the lobes, consistent with RP. Further investigations revealed positive ANA and anti-Smith antibody, oral ulcers, a photo-distributed skin eruption, and biopsy-proven lupus nephritis, leading to a second concomitant diagnosis of systemic lupus erythematosus (SLE). The diagnosis of SLE associated with RP was made and the patient was started on oral prednisone and hydroxychloroquine. This is a rare report of SLE associated with RP. It is unclear whether RP occurring in patients with SLE represents another clinical manifestation of SLE or a coexisting disease. However, a significant ANA titer in a patient with RP strongly suggests the presence of an associated autoimmune disorder. If immunologic abnormalities usually found in SLE are detected in patients with RP, it is important to monitor patients for the development of other manifestations of SLE. PMID:27267190

  4. An Uncommon Osseous Frontal Sinus Tumor: Monostotic Paget's Disease

    PubMed Central

    Labajian, Varant; Kilty, Shaun J.

    2013-01-01

    Paget's disease of the bone is a disorder characterized by abnormal breakdown and formation of bone tissue. The cause is believed to be either viral or genetic in origin. Most of the time, patients are asymptomatic. Diagnosis is supported by findings from multiple modalities including serum markers, imaging, bone scans, and histology. We present a rare case of Paget's disease of the bone involving the frontal sinus. We review the relevant clinical, diagnostic, and histological findings. We also suggest indications for the management of monostotic Paget's disease of the frontal sinus. PMID:24383031

  5. An uncommon presentation of Kikuchi-Fujimoto disease as mediastinal lymphadenopathy.

    PubMed

    Hino, Haruaki; Nishimura, Takashi; Nitadori, Jun-Ichi; Miyakoshi, Shigesaburo; Seki, Atsuko; Arai, Tomio; Nakajima, Jun

    2016-05-01

    We experienced an uncommon presentation of Kikuchi-Fujimoto disease (KFD) with sole mediastinal lymphadenopathy in senior age, which was histologically diagnosed by thoracoscopic biopsy leading to appropriate therapy. A 69-year-old man was admitted due to intermittent high fever, general malaise, and appetite loss lasting over 3 months along with 10-kg weight loss in 6 months. Chest computed tomography (CT) showed isolated mediastinal lymphadenopathy, and malignant diseases including malignant lymphoma or metastatic carcinoma, tuberculous lymphadenitis, and sarcoidosis were considered. Therefore thoracoscopic biopsy should be performed for the correct diagnosis, even in uncommon portion of lymph node swelling and age for KFD. PMID:27162693

  6. Cauda equina syndrome: an uncommon symptom of aortic diseases

    PubMed Central

    He, Fuliang; Xing, Tong; Yu, Fang; Li, Hongchuan; Fang, Xiutong; Song, Hongxing

    2015-01-01

    Background: In order to help diagnose and deal with the fetal aortic diseases in time, we retrospectively reviewed 8 patients who presented with cauda equina syndrome (CES) but actually suffered from low spinal nerve ischemia due to aortic diseases. Material and Methods: 8 patients were initially diagnosed as CES. 7 patients were confirmed with aortic diseases. 1 patient was confirmed with aortic saddle embolism post emergent laminectomy. Relief of CES symptoms was evaluated during preoperation and follow-up period. Results: 1 patient was diagnosed as aortic dissection and 5 patients as AAA. These 6 patients underwent endovascular aortic repair (EVAR). The CES was relieved in 5-10 d post procedure. The 7th patient was diagnosed with acute abdominal aortic occlusion and then underwent catheter directed thrombolysis with recombinant tissue plasminogen activator (rTPA) for 20 h and CES disappeared. The JOA scores of the 7 patients were recovered from preoperative 15.14±1.21 to 21.00±2.16 within 5-10 d (P<0.01), and evaluated to be 24.12±1.34, 25.88±1.21 and 26.29±1.11 at 3 m-, 6 m- and 12 m-follow-up point, respectively. The 8th patient was initially diagnosed as lumbar spinal stenosis and lumbar disc herniation. The patient underwent emergent vertebral canal decompression and presented with serious CES symptoms. CTA confirmed that the patient had been suffered from aortic saddle embolism (ASE). Conclusion: CES caused by abdominal aortic diseases is a special event with fetal consequences if it is not recognized and treated promptly. Orthopedists and neurosurgeons should pay attentions particularly to this issue to preserve the cauda equina functions to their maximums. PMID:26379869

  7. Ribbing disease: Uncommon cause of a common symptom

    PubMed Central

    Damle, Nishikant Avinash; Patnecha, Manish; Kumar, Praveen; Gadodia, Ankur; Subbarao, Kiran; Bal, Chandrasekhar

    2011-01-01

    Ribbing disease is a rare form of sclerosing dysplasia characterized by benign endosteal and periosteal bone growth confined to the diaphyses of the long bones, usually the tibiae and femora. It occurs after puberty and is more commonly seen in women. The most common presenting symptom is pain that is usually self-limited; however, progression is known. The etiology and optimal treatment for the disease are as yet undefined. We present here the case of a 31-year-old woman with clinical, radiological and bone scan manifestations of Ribbing disease corroborated by bone biopsy. Radiographs demonstrated cortical thickening of the diaphyses of both tibiae. 99mTc-methylene diphosphonate bone scan revealed intense irregular uptake in diaphyseal region of both tibiae. Magnetic resonance imaging showed cortical thickening with bone marrow edema in bilateral tibial diaphysis with minimal adjacent soft tissue edema. Bone biopsy revealed predominantly dense lamellar bone with irregular sized and spaced haversian systems. Serum and urine markers of bone metabolism were within normal limits. The patient was treated with analgesics, and had partial relief from pain. Medullary rimming is the next treatment option in case pain progresses. This report emphasizes the role of bone scan in the diagnosis of this rare condition. PMID:21969779

  8. Recovery of uncommon bacteria from blood: association with neoplastic disease.

    PubMed

    Beebe, J L; Koneman, E W

    1995-07-01

    Table 6 is a summary of the organisms discussed with a listing of the environmental source, the endogenous source, the predisposing factors including neoplasms, and the postulated mechanisms by which the organism can gain access to the circulation. The evidence considered indicates that the entrance of one of these microorganisms into the bloodstream of a human being depends on the presence of multiplicity of predisposing factors. In the majority of cases of bacteremia due to one of these unusual organisms, two or more predisposing factors are present. Certain predisposing factors, such as cancer chemotherapy or intravenous catheterization, often provide a barrier break, while others, such as liver disease, may render the host immune system less capable of clearing organisms from the circulation. For organisms such as Campy-lobacter, Listeria, and Salmonella spp., attributes that allow the invasion of a healthy host are present and seem to be enhanced by the simultaneous presence of a predisposing condition, such as liver disease, in the host. Although somewhat fragmentary, a number of individual case reports describe bacteremia due to one of these organisms occurring weeks to years after surgery and after other therapeutic measures had effected a supposed cure of a cancer. It may be speculated that cancer patients, even after a cure, are still susceptible to bloodstream invasion by one of the aforementioned organisms by virtue of the presence of one or more predisposing metabolic, physiologic, or immunologic factors, even though these factors may be cryptic. The predominance of hematologic malignancies among cases of bacteremia due to these unusual organisms is also apparent. Although, as pointed out by Keusch (169), the reduction in the performance of immune function in hematologic malignancies compared with solid tumors is likely to be responsible, other associations of certain organisms with specific neoplasms warrant further examination. The frequency of

  9. Recovery of uncommon bacteria from blood: association with neoplastic disease.

    PubMed Central

    Beebe, J L; Koneman, E W

    1995-01-01

    Table 6 is a summary of the organisms discussed with a listing of the environmental source, the endogenous source, the predisposing factors including neoplasms, and the postulated mechanisms by which the organism can gain access to the circulation. The evidence considered indicates that the entrance of one of these microorganisms into the bloodstream of a human being depends on the presence of multiplicity of predisposing factors. In the majority of cases of bacteremia due to one of these unusual organisms, two or more predisposing factors are present. Certain predisposing factors, such as cancer chemotherapy or intravenous catheterization, often provide a barrier break, while others, such as liver disease, may render the host immune system less capable of clearing organisms from the circulation. For organisms such as Campy-lobacter, Listeria, and Salmonella spp., attributes that allow the invasion of a healthy host are present and seem to be enhanced by the simultaneous presence of a predisposing condition, such as liver disease, in the host. Although somewhat fragmentary, a number of individual case reports describe bacteremia due to one of these organisms occurring weeks to years after surgery and after other therapeutic measures had effected a supposed cure of a cancer. It may be speculated that cancer patients, even after a cure, are still susceptible to bloodstream invasion by one of the aforementioned organisms by virtue of the presence of one or more predisposing metabolic, physiologic, or immunologic factors, even though these factors may be cryptic. The predominance of hematologic malignancies among cases of bacteremia due to these unusual organisms is also apparent. Although, as pointed out by Keusch (169), the reduction in the performance of immune function in hematologic malignancies compared with solid tumors is likely to be responsible, other associations of certain organisms with specific neoplasms warrant further examination. The frequency of

  10. Drug Induced Steatohepatitis: An Uncommon Culprit of a Common Disease

    PubMed Central

    Rabinowich, Liane; Shibolet, Oren

    2015-01-01

    Nonalcoholic fatty liver disease (NAFLD) is a leading cause of liver disease in developed countries. Its frequency is increasing in the general population mostly due to the widespread occurrence of obesity and the metabolic syndrome. Although drugs and dietary supplements are viewed as a major cause of acute liver injury, drug induced steatosis and steatohepatitis are considered a rare form of drug induced liver injury (DILI). The complex mechanism leading to hepatic steatosis caused by commonly used drugs such as amiodarone, methotrexate, tamoxifen, valproic acid, glucocorticoids, and others is not fully understood. It relates not only to induction of the metabolic syndrome by some drugs but also to their impact on important molecular pathways including increased hepatocytes lipogenesis, decreased secretion of fatty acids, and interruption of mitochondrial β-oxidation as well as altered expression of genes responsible for drug metabolism. Better familiarity with this type of liver injury is important for early recognition of drug hepatotoxicity and crucial for preventing severe forms of liver injury and cirrhosis. Moreover, understanding the mechanisms leading to drug induced hepatic steatosis may provide much needed clues to the mechanism and potential prevention of the more common form of metabolic steatohepatitis. PMID:26273591

  11. Polycystic Thyroid Disease in Pediatric Patients: An Uncommon Cause of Hypothyroidism.

    PubMed

    Naranjo, Isaac Daimiel; Robinot, David Coca; Rojo, Jaime Cruz; Ponferrada, Miguel Rasero

    2016-01-01

    Polycystic thyroid disease has been described as a rare cause of hypothyroidism. This uncommon entity has been reported in adults within areas with high iodine intake. Sonographic findings of multiple small thin-walled simple thyroid cysts in the context of hypothyroidism without thyroid autoantibodies are highly suggestive of this diagnosis. To our knowledge, we report the first 2 cases of polycystic thyroid disease in pediatric patients in Europe.

  12. Buerger's disease presenting as a testicular mass: A rare presentation of an uncommon disease

    PubMed Central

    Roberts, Jay A.; Meyer, Jon-Paul

    2016-01-01

    Thromboangiitis obliterans is an uncommon nonatherosclerotic segmental inflammatory disease that predominantly affects the small and medium-sized arteries and veins of the distal extremities. It was first described in 1879 and is also known as Buerger's disease. Buerger's usually begins with ischemia of small vessels producing digital infarcts and may progress to more proximal arteries and veins, producing claudication of the feet, legs, hands, or arms. Tobacco smoking is essential to the initiation and the progression of disease and it typically occurs in males under the age of 45 years. Although Buerger's most commonly affects the arms, hands, legs, and feet, it has also been reported in other vascular beds including cerebral, coronary, renal, mesenteric, and pulmonary arteries. There are also a small number of cases involving the male genitalia. To our knowledge, there has only been one English case of Buerger's involving the testis, published in 1940. Here, we present a new case of Buerger's presenting as a testicular mass in a 17-year-old cannabis smoker. PMID:27141205

  13. A review of uncommon cytopathologic diagnoses of pleural effusions from a chest diseases center in Turkey

    PubMed Central

    Cakir, Ebru; Demirag, Funda; Aydin, Mehtap; Erdogan, Yurdanur

    2011-01-01

    Background: After pneumonia, cancer involving the pleura is the leading cause of exudative pleural effusion. Cytologic examination of pleural effusions is an important initial step in management of malignant effusions. The aim of this study is to evaluate the spectrum of uncommon malignant pleural effusions in a chest disease center in Turkey. Materials and Methods: A retrospective study of samples of pleural effusions submitted to Ataturk Chest Diseases and Chest Surgery Education and Research Hospital Department of Pathology between March 2005 and November 2008 was performed. Results: Out of a total of 4684 samples reviewed 364 (7.8%) were positive for cancer cells. Of the malignant pleural effusions 295 (81%) were classified as adenocarcinoma or carcinoma not otherwise specified (NOS). Pleural effusion specimens revealing a diagnosis other than adenocarcinoma/carcinoma NOS were: 32 (8.8%) malignant mesotheliomas, 14 (3.8%) small cell carcinomas, 13 (3.5%) hematolymphoid malignancies and 10 (2.7%) squamous cell carcinoma. Hematolymphoid malignancies included non- Hodgkin lymphoma (diffuse B large cell lymphoma, mantle cell lymphoma), multiple myeloma, chronic myeloid leukemia, and acute myeloid leukemia. Conclusions: Despite that adenocarcinoma is the most common cause of malignant pleural effusions, there is a significant number of hematological and non-hematological uncommon causes of such effusions. Cytopathologists and clinicians must keep in mind these uncommon entities in routine practice for an accurate diagnosis. PMID:21799700

  14. Hemolytic anemia as first presentation of Wilson's disease with uncommon ATP7B mutation.

    PubMed

    Ye, Xing-Nong; Mao, Li-Ping; Lou, Yin-Jun; Tong, Hong-Yan

    2015-01-01

    Wilson's disease (WD) is a rare inherited disorder of copper metabolism and the main manifestations are liver and brain disorders. Hemolytic anemia is an unusual complication of WD. We describe a 15-year-old girl who developed hemolytic anemia as the first manifestation of Wilson's disease. An Arg952Lys mutation was found in exon 12 of the ATP7B gene, which is uncommon among Chinese Han individuals. From this case and reviews, we can achieve a better understanding of WD. Besides, we may conclude that the probable diagnosis of WD should be considered in young patients with unexplained hemolytic anemia, especially in patients with hepatic and/or neurologic disorder.

  15. Polymorphous light eruption: a common skin disease uncommonly recognized in the Hispanic population

    PubMed Central

    Lew, Robert; Jacob, Jason

    2014-01-01

    Polymorphous light eruption (PMLE) is a common acquired disease entity belonging to the idiopathic photodermatoses that is uncommonly considered in the Hispanic population. The pathogenesis of the disease and the mechanism of adaptation in skin (hardening phenomenon) have yet to be elucidated. PMLE is characterized by recurrent abnormal delayed reactions to sunlight ranging from pruritic erythematous papules, papulovesicles and plaques to erythema multiforme. It commonly occurs in the spring or early summer with a predilection for females. A Pubmed review of the literature shows no case reports or literature regarding PMLE in Hispanics. To the best of our knowledge, we report the first case of a 41-year-old Hispanic female diagnosed with PMLE. A high index of suspicion must remain in this group. Additional studies reviewing epidemiology in this group and detailing similar cases may be suggested. PMID:25988060

  16. [Uncommon abdominal sites of hydatid disease. Our experience with the surgical treatment of 15 cases].

    PubMed

    Mosca, Francesco; Portale, Teresa Rosanna; Persi, Achille; Stracqualursi, Antonio; Puleo, Stefano

    2004-01-01

    The aim of this retrospective study is to report on a series of 15 patients with abdominal hydatid disease in uncommon sites submitted to surgery in our unit over the period 1974-2003. Eight women and 7 men (mean age: 48.4 years) were included in the study. The hydatid cysts were located in the peritoneum in 8 patients, in the spleen in 5, in the kidney in 1 and in the retroperitoneum in 1. In 4 cases the peritoneal cysts were solitary, while 4 patients in this subgroup presented multiple cysts and 2 had concomitant liver hydatidosis. The splenic cysts were solitary in 2 cases, associated with a hepatic cyst in 2 and with a lung cyst in 1. The renal and retroperitoneal cysts were both solitary. The diagnosis was made at operation in 3 cases, while in 12 patients it was made by serological tests, ultrasonography and/or CT. All patients were operated on: we performed a total cystectomy in 7 patients with peritoneal cysts and in the patient with a retroperitoneal location, splenectomy in the 5 splenic cysts and a partial cystectomy with external drainage of the residual cavity in 1 peritoneal cyst and in the renal location. The postoperative course was regular with no mortality and no major morbidity in 14 patients, while 1 patient submitted to splenectomy developed a subphrenic abscess that required surgical drainage. Two recurrences occurred in patients with peritoneal cysts 71 and 20 months, respectively, after the first operation and these were managed by total cystectomy. The diagnosis of uncommon abdominal sites of hydatid disease is more accurate today because of the new imaging techniques, which are often able to show specific radiological signs of hydatid disease. The treatment of choice is surgical and complete removal of the cyst is the gold standard, but its feasibility is related to the location of the cyst.

  17. Mitomycin-based hepatic arterial infusion chemotherapy for solitary ampullary cancer liver metastasis: an unusual treatment for an uncommon disease.

    PubMed

    Vitale, Felice V; Romeo, Placido; Luciani, Bruno; Raffaele, Mario; Colina, Paolo; Ferraù, Francesco

    2015-10-01

    Ampullary carcinoma is an uncommon gastrointestinal disease. Its natural history is often characterized by the occurrence of liver metastases. Among patients who undergo pancreatoduodenectomy, those presenting with lymph nodes involvement are more prone to early distant disease relapse. In this report, a patient previously diagnosed with ampullary carcinoma had been treated with curative surgery. After subsequent adjuvant gemcitabine, the patient developed significant myelotoxicity and suffered from a single liver metastasis a few months later. A hepatic intra-arterial mitomycin plus fluorouracil-based chemotherapy was administered in order to avoid any serious systemic toxicity. The treatment was well tolerated and no serious side effects occurred. Extra-hepatic cancer relapse, involving intra-thoracic and abdominal lymph nodes, was observed not long after the initial intra-hepatic almost complete response. In conclusion, the locoregional chemotherapy administration was effective in overcoming any systemic toxicities and showed activity against the liver metastasis but it did not prevent extra-hepatic cancer dissemination.

  18. Isolated Nasopharyngeal Castleman Disease: An Uncommon Diagnosis in an Unusual Location

    PubMed Central

    McDonnell, O.; Morris, Melinda; Khaleel, Z.

    2014-01-01

    Localised nasopharyngeal Castleman disease has rarely been reported. We present a case involving a 23-year-old female, describe the clinical, imaging, and histopathologic features of this challenging diagnosis, and review the literature. PMID:25126439

  19. Tangier's disease: An uncommon cause of facial weakness and non-length dependent demyelinating neuropathy

    PubMed Central

    Nagappa, Madhu; Taly, Arun B.; Mahadevan, Anita; Pooja, M.; Bindu, P. S.; Chickabasaviah, Y. T.; Gayathri, N.; Sinha, Sanjib

    2016-01-01

    Tangier disease is an autosomal recessive disorder characterized by an abnormal accumulation of cholesterol esters in various organs secondary to adenotriphosphate binding cassette transporter A-1 (ABCA-1) transporter deficiency and disrupted reverse cholesterol transport. It causes neuropathy in half of the affected individuals. We present the clinical, electrophysiological, and histopathological findings in a middle aged gentleman of Tangier disease who was initially misdiagnosed leprosy and treated with antileprosy drugs. The presence of a demyelinating neuropathy on electrophysiology in a patient with predominant upper limb involvement and facial diplegia should raise the suspicion of Tangier disease. The characteristic lipid profile of Tangier disease was noted in this patient viz. extremely low high density lipoprotein (HDL), elevated triglyceride (TG), and reduced apolipoprotein A1. Estimation of serum lipids should form a part of routine evaluation in order to avoid misdiagnosis. PMID:27011649

  20. DNA analysis of an uncommon missense mutation in a Gaucher disease patient of Jewish-Polish-Russian descent

    SciTech Connect

    Choy, F.Y.M.; Wei, C.; Applegarth, D.A.; McGillivray, B.C.

    1994-06-01

    Gaucher disease is the most frequent lysosomal lipid storage disease. It results from deficient glucocerebrosidase activity and is transmitted as an autosomal recessive trait. Three clinical forms of Gaucher disease have been described: type 1, non-neuronopathic; type 2, acute neuronopathic; and type 3, subacute neuronopathic. We have sequenced the full length cDNA of the glucocerebrosidase gene and identified an uncommon mutation in nucleotide position 1604 (genoma DNA nucleotide position 6683) from a Gaucher disease patient of Jewish-Polish-Russian descent with type 1 Gaucher disease. It is a G{yields}A transition in exon 11 that results in {sup 496}Arg{yields}{sup 496}His of glucocerebrosidase. This missense mutation is present in the heterozygous form and creates a new cleavage site for the endonuclease HphI. We have developed a simple method to detect the presence of this mutation by using HphI restriction fragment length polymorphism analysis of glucocerebrosidase genomic DNA or cDNA. The mutation in the other Gaucher allele of this patient is an A{yields}G transition at cDNA nucleotide position 1226 which creates an XhoI cleavage site after PCR mismatch amplification. The presence of this mutation was also confirmed by sequence analysis. Based on previous reports that mutation 1226 is present only in type 1 Gaucher disease and the observation that there is no neurological involvement in this patient, we conclude that our patient with the 1226/1604 genotype is diagnosed as having type 1 Gaucher disease. Since it was also postulated that mutation 1226 in the homozygous form will usually result in a good prognosis, we speculate that the orthopedic complications and the unusual presence of glomerulosclerosis in this patient may be attributable to the mutation at nucleotide 1604. This speculation will require a description of more patients with this mutation for confirmation. 32 refs., 5 figs.

  1. High Incidence of Invasive Group A Streptococcus Disease Caused by Strains of Uncommon emm Types in Thunder Bay, Ontario, Canada

    PubMed Central

    Athey, Taryn B. T.; Teatero, Sarah; Sieswerda, Lee E.; Gubbay, Jonathan B.; Marchand-Austin, Alex; Li, Aimin; Wasserscheid, Jessica; Dewar, Ken; McGeer, Allison; Williams, David

    2015-01-01

    An outbreak of type emm59 invasive group A Streptococcus (iGAS) disease was declared in 2008 in Thunder Bay District, Northwestern Ontario, 2 years after a countrywide emm59 epidemic was recognized in Canada. Despite a declining number of emm59 infections since 2010, numerous cases of iGAS disease continue to be reported in the area. We collected clinical information on all iGAS cases recorded in Thunder Bay District from 2008 to 2013. We also emm typed and sequenced the genomes of all available strains isolated from 2011 to 2013 from iGAS infections and from severe cases of soft tissue infections. We used whole-genome sequencing data to investigate the population structure of GAS strains of the most frequently isolated emm types. We report an increased incidence of iGAS in Thunder Bay compared to the metropolitan area of Toronto/Peel and the province of Ontario. Illicit drug use, alcohol abuse, homelessness, and hepatitis C infection were underlying diseases or conditions that might have predisposed patients to iGAS disease. Most cases were caused by clonal strains of skin or generalist emm types (i.e., emm82, emm87, emm101, emm4, emm83, and emm114) uncommonly seen in other areas of the province. We observed rapid waxing and waning of emm types causing disease and their replacement by other emm types associated with the same tissue tropisms. Thus, iGAS disease in Thunder Bay District predominantly affects a select population of disadvantaged persons and is caused by clonally related strains of a few skin and generalist emm types less commonly associated with iGAS in other areas of Ontario. PMID:26491184

  2. Invasive lobular carcinoma of the male breast: A rare histology of an uncommon disease.

    PubMed

    Upadhyay, Rituraj; Kumar, Pavnesh; Sharma, D N; Haresh, K P; Gupta, Subhash; Julka, P K; Rath, G K; Bhankar, Himani

    2016-03-01

    Male breast carcinoma is a rare malignancy comprising less than 1% of all breast cancers. It is a serious disease with most patients presenting in advanced stages. Infiltrating ductal carcinoma is the most common histology while lobular carcinoma represents less than 1% of all these tumors. We report a case of locally advanced lobular carcinoma of breast in a 60 year old male. PMID:26530727

  3. Uncommon histiocytic disorders: Rosai-Dorfman, juvenile xanthogranuloma, and Erdheim-Chester disease.

    PubMed

    Haroche, Julien; Abla, Oussama

    2015-01-01

    Rosai-Dorfman disease (RDD), juvenile xanthogranuloma (JXG), and Erdheim-Chester disease (ECD) are non-Langerhans cell (non-LCH) disorders arising from either a dendritic or a macrophage cell. RDD is a benign disorder that presents with massive lymphadenopathy, but can have extranodal involvement. In most cases, RDD is self-limited and observation is the standard approach. Treatment is restricted to patients with life-threatening, multiple-relapsing, or autoimmune-associated disease. JXG is a pediatric histiocytosis characterized by xanthomatous skin lesions that usually resolve spontaneously. In a minority of cases, systemic disease can occur and can be life threatening. Juvenile myelomonocytic leukemia (JMML), as well as germline mutations in NF1 and NF2, have been reported in children with JXG. Recent whole-exome sequencing of JXG cases did not show the BRAF-V600E mutation, although 1 patient had PI3KCD mutation. ECD is an adult histiocytosis characterized by symmetrical long bone involvement, cardiovascular infiltration, a hairy kidney, and retroperitoneal fibrosis. Central nervous system involvement is a poor prognostic factor. Interferon-α is the standard as front-line therapy, although cladribine and anakinra can be effective in a few refractory cases. More than one-half of ECD patients carry the BRAF-V600E mutation. Currently, >40 patients worldwide with multisystemic, refractory BRAF-V600E(+) ECD have been treated with vemurafenib, a BRAF inhibitor, which was found to be highly effective. Other recurrent mutations of the MAP kinase and PI3K pathways have been described in ECD. These discoveries may redefine ECD, JXG, and LCH as inflammatory myeloid neoplasms, which may lead to new targeted therapies. PMID:26637774

  4. An Uncommon Association of Familial Partial Lipodystrophy, Dilated Cardiomyopathy, and Conduction System Disease.

    PubMed

    Panikkath, Ragesh; Panikkath, Deepa; Sanchez-Iglesias, S; Araujo-Vilar, D; Lado-Abeal, Joaquin

    2016-01-01

    A 46-year-old African American woman presented with severe respiratory distress requiring intubation and was diagnosed with nonischemic cardiomyopathy. She had the typical phenotype of familial partial lipodystrophy 2 (FPLD2). Sequence analysis of LMNA gene showed a heterozygous missense mutation at exon 8 (c.1444C>T) causing amino acid change, p.R482W. She later developed severe coronary artery disease requiring multiple percutaneous coronary interventions and coronary artery bypass surgery. She was later diagnosed with diabetes, primary hyperparathyroidism, and euthyroid multinodular goiter. She had sinus nodal and atrioventricular nodal disease and had an implantable cardioverter defibrillator implantation due to persistent left ventricular dysfunction. The device eroded through the skin few months after implantation and needed a re-implant on the contralateral side. She had atrial flutter requiring ablation. This patient with FPLD2 had most of the reported cardiac complications of FPLD2. This case is presented to improve the awareness of the presentation of this disease among cardiologists and internists. PMID:27504462

  5. An Uncommon Association of Familial Partial Lipodystrophy, Dilated Cardiomyopathy, and Conduction System Disease

    PubMed Central

    Panikkath, Ragesh; Panikkath, Deepa; Sanchez-Iglesias, S.; Araujo-Vilar, D; Lado-Abeal, Joaquin

    2016-01-01

    A 46-year-old African American woman presented with severe respiratory distress requiring intubation and was diagnosed with nonischemic cardiomyopathy. She had the typical phenotype of familial partial lipodystrophy 2 (FPLD2). Sequence analysis of LMNA gene showed a heterozygous missense mutation at exon 8 (c.1444C>T) causing amino acid change, p.R482W. She later developed severe coronary artery disease requiring multiple percutaneous coronary interventions and coronary artery bypass surgery. She was later diagnosed with diabetes, primary hyperparathyroidism, and euthyroid multinodular goiter. She had sinus nodal and atrioventricular nodal disease and had an implantable cardioverter defibrillator implantation due to persistent left ventricular dysfunction. The device eroded through the skin few months after implantation and needed a re-implant on the contralateral side. She had atrial flutter requiring ablation. This patient with FPLD2 had most of the reported cardiac complications of FPLD2. This case is presented to improve the awareness of the presentation of this disease among cardiologists and internists. PMID:27504462

  6. Toxoplasmosis presented as a submental mass: a common disease, uncommon presentation

    PubMed Central

    Li, Bo; Zou, Jian; Wang, Wei-Ya; Liu, Shi-Xi

    2015-01-01

    Submental mass secondary to toxoplasmosis is not common in clinical work. A diagnosis of toxoplasmosis is rarely considered by physicians. Here we describe a 50-year-old woman presented with a progressive, painful, submental and left neck swelling for 1 month. After having obtained an insufficient evidence from the fine-needle biopsy, the patient finally received an excisional biopsy which highly indicated the possibility of lymphadenopathy consistent with toxoplasmosis. Diagnosis of toxoplasmosis was finally established by a combination of the pathological criteria, together with the positive serological finding. According to review the clinical presentations, pathological characteristics, diagnostic standard and treatment of this disease, the article aims to remind otolaryngologists who are evaluating a neck mass should be aware of the infectious cause of lymphadenopathy and the possibility of toxoplasmosis. PMID:26045858

  7. Toxoplasmosis presented as a submental mass: a common disease, uncommon presentation.

    PubMed

    Li, Bo; Zou, Jian; Wang, Wei-Ya; Liu, Shi-Xi

    2015-01-01

    Submental mass secondary to toxoplasmosis is not common in clinical work. A diagnosis of toxoplasmosis is rarely considered by physicians. Here we describe a 50-year-old woman presented with a progressive, painful, submental and left neck swelling for 1 month. After having obtained an insufficient evidence from the fine-needle biopsy, the patient finally received an excisional biopsy which highly indicated the possibility of lymphadenopathy consistent with toxoplasmosis. Diagnosis of toxoplasmosis was finally established by a combination of the pathological criteria, together with the positive serological finding. According to review the clinical presentations, pathological characteristics, diagnostic standard and treatment of this disease, the article aims to remind otolaryngologists who are evaluating a neck mass should be aware of the infectious cause of lymphadenopathy and the possibility of toxoplasmosis.

  8. From past sailors' eras to the present day: scurvy as a surprising manifestation of an uncommon gastrointestinal disease.

    PubMed

    Branquinho, Diogo Ferreira; Pinto-Gouveia, Miguel; Mendes, Sofia; Sofia, Carlos

    2015-01-01

    A 45-year-old man presented with follicular exanthema in his lower limbs, alternating bowel habits and significant weight loss. His medical history included seronegative arthritis, bipolar disease and an inconclusive diagnostic laparoscopy. Diagnostic work up revealed microcytic anaemia and multivitamin deficiency. Skin biopsy of the exanthema suggested scurvy. Owing to these signs of malabsorption, upper endoscopy with duodenal biopsies was performed, exhibiting villous atrophy and extensive periodic acid-Schiff-positive material in the lamina propria, therefore diagnosing Whipple's disease (WD). After starting treatment with ceftriaxone and co-trimoxazole, an impressive recovery was noted, as the wide spectrum of malabsorption signs quickly disappeared. After a year of antibiotics, articular and cutaneous manifestations improved, allowing the patient to stop taking corticosteroids and antidepressants. This truly unusual presentation reflects the multisystemic nature of WD, often leading to misdiagnosis of other entities. Scurvy is a rare finding in developed countries, but its presence should raise suspicion for small bowel disease. PMID:26376699

  9. From past sailors' eras to the present day: scurvy as a surprising manifestation of an uncommon gastrointestinal disease.

    PubMed

    Branquinho, Diogo Ferreira; Pinto-Gouveia, Miguel; Mendes, Sofia; Sofia, Carlos

    2015-09-16

    A 45-year-old man presented with follicular exanthema in his lower limbs, alternating bowel habits and significant weight loss. His medical history included seronegative arthritis, bipolar disease and an inconclusive diagnostic laparoscopy. Diagnostic work up revealed microcytic anaemia and multivitamin deficiency. Skin biopsy of the exanthema suggested scurvy. Owing to these signs of malabsorption, upper endoscopy with duodenal biopsies was performed, exhibiting villous atrophy and extensive periodic acid-Schiff-positive material in the lamina propria, therefore diagnosing Whipple's disease (WD). After starting treatment with ceftriaxone and co-trimoxazole, an impressive recovery was noted, as the wide spectrum of malabsorption signs quickly disappeared. After a year of antibiotics, articular and cutaneous manifestations improved, allowing the patient to stop taking corticosteroids and antidepressants. This truly unusual presentation reflects the multisystemic nature of WD, often leading to misdiagnosis of other entities. Scurvy is a rare finding in developed countries, but its presence should raise suspicion for small bowel disease.

  10. Uncommon Leber "plus" disease associated with mitochondrial mutation m.11778G>A in a premature child.

    PubMed

    Paquay, Stéphanie; Benoit, Valérie; Wetzburger, Catherine; Cordonnier, Monique; Meire, Françoise; Charon, Anne; Roland, Dominique; Van Coster, Rudy; Nassogne, Marie-Cécile; Maystadt, Isabelle

    2014-08-01

    Leber hereditary optic neuropathy is a well-known mitochondrial disorder that leads to bilateral subacute visual failure. Although visual impairment is often the sole clinical feature, additional and severe neurologic abnormalities also have been documented for this disease. We report on a 13-year-old boy who has presented with severe visual failure since early childhood in a context of prematurity. In the first years of his life, clinical features included delayed psychomotor development and ataxia. The clinical presentation, which was initially attributed to prematurity, worsened thereafter, and the child developed acute neurologic degradation with the typical radiological findings of Leigh syndrome. The mitochondrial DNA point mutation 11778G>A was identified in the ND4 gene. The probable influence of environmental background on clinical expression of Leber optic neuropathy, particularly those of prematurity and oxygen therapy, is discussed in our manuscript. PMID:23864591

  11. Uncommon Leber "plus" disease associated with mitochondrial mutation m.11778G>A in a premature child.

    PubMed

    Paquay, Stéphanie; Benoit, Valérie; Wetzburger, Catherine; Cordonnier, Monique; Meire, Françoise; Charon, Anne; Roland, Dominique; Van Coster, Rudy; Nassogne, Marie-Cécile; Maystadt, Isabelle

    2014-08-01

    Leber hereditary optic neuropathy is a well-known mitochondrial disorder that leads to bilateral subacute visual failure. Although visual impairment is often the sole clinical feature, additional and severe neurologic abnormalities also have been documented for this disease. We report on a 13-year-old boy who has presented with severe visual failure since early childhood in a context of prematurity. In the first years of his life, clinical features included delayed psychomotor development and ataxia. The clinical presentation, which was initially attributed to prematurity, worsened thereafter, and the child developed acute neurologic degradation with the typical radiological findings of Leigh syndrome. The mitochondrial DNA point mutation 11778G>A was identified in the ND4 gene. The probable influence of environmental background on clinical expression of Leber optic neuropathy, particularly those of prematurity and oxygen therapy, is discussed in our manuscript.

  12. Urinary Schistosomiasis in an Adolescent Refugee from Africa: An Uncommon Cause of Hematuria and an Emerging Infectious Disease in Europe.

    PubMed

    Poddighe, Dimitri; Castelli, Lucia; Pulcrano, Giovanna; Grosini, Alessia; Balzaretti, Michela; Spadaro, Salvatore; Bruni, Paola

    2016-10-01

    We report a case of urinary schistosomiasis in an adolescent refugee from Gambia (arrived to Italy illegally), who was brought to the Emergency Department of our hospital. The patient complained of gross hematuria and, in the absence of clinical evidence of bacterial urinary infection, was admitted to the pediatric ward, considering his provenience and social setting. An appropriate collection and microscopic analysis of urine samples led to the detection of bilharzia. Much attention should be paid to this emerging disease in Europe by physicians in order to recognize and treat it timely, which could prevent future and higher costs for public health systems and could reduce the potential risk of environmental spreading. In fact, there are some areas in Italy where the parasite can find its intermediate host to complete its lifecycle. PMID:26335551

  13. Urinary Schistosomiasis in an Adolescent Refugee from Africa: An Uncommon Cause of Hematuria and an Emerging Infectious Disease in Europe.

    PubMed

    Poddighe, Dimitri; Castelli, Lucia; Pulcrano, Giovanna; Grosini, Alessia; Balzaretti, Michela; Spadaro, Salvatore; Bruni, Paola

    2016-10-01

    We report a case of urinary schistosomiasis in an adolescent refugee from Gambia (arrived to Italy illegally), who was brought to the Emergency Department of our hospital. The patient complained of gross hematuria and, in the absence of clinical evidence of bacterial urinary infection, was admitted to the pediatric ward, considering his provenience and social setting. An appropriate collection and microscopic analysis of urine samples led to the detection of bilharzia. Much attention should be paid to this emerging disease in Europe by physicians in order to recognize and treat it timely, which could prevent future and higher costs for public health systems and could reduce the potential risk of environmental spreading. In fact, there are some areas in Italy where the parasite can find its intermediate host to complete its lifecycle.

  14. GSTO1*E155del polymorphism associated with increased risk for late-onset Alzheimer's disease: association hypothesis for an uncommon genetic variant.

    PubMed

    Piacentini, Sara; Polimanti, Renato; Squitti, Rosanna; Mariani, Stefania; Migliore, Simone; Vernieri, Fabrizio; Rossini, Paolo Maria; Manfellotto, Dario; Fuciarelli, Maria

    2012-01-11

    Glutathione S-transferases are multifunctional enzymes involved in cellular detoxification. A genetic linkage was found between Alzheimer's Disease (AD) and the chromosome 10q, where the GSTO1 and GSTO2 genes are located, leading to the hypothesis that GST Omega class (GSTO) genes may be an AD risk factor. Since it is still controversial, we decided to explore GSTO polymorphisms in Italian cohorts. We analyzed 119 AD patients and 114 healthy controls for the GSTO gene polymorphisms. In particular we investigated two common polymorphisms (GSTO1*A140D, GSTO2*N142D) and two uncommon variants (GSTO1*E155del, GSTO1*E208K) to find loci associated with AD risk. Detection of GSTO1*A140D and GSTO2*N142D was performed by PCR-RFLP, while GSTO1*E155del and GSTO1*E208K were detected using confronting two-pair primer and allele specific PCR, respectively. While GSTO1*A140D, GSTO1*E208K and GSTO2*N142D polymorphisms did not show significant outcomes, the GSTO1*E155del polymorphism is associated with AD [P=0.003; adjusted OR=3.70 (1.57-8.75)]. Our results suggest that GSTO1-1 plays a role in AD since the GSTO1*del155 variant is involved in changes in GSTO1-1 activities decreasing in enzyme stability. Specifically, three hypotheses may explain the role of GSTO1-1 in the pathophysiology of AD: the antioxidant activity of GSTO1-1 may protect brain tissue against oxidative stress; GSTO1-1 activity regulate interleukin-1β activation and its genetic variation may act to modulate inflammation in AD; GSTO1-1 is involved in the arsenic biotransformation pathway and gene polymorphisms may be implicated in the modulation of arsenic neurotoxicity. In conclusion, we hypothesized that GSTO1*E155del is an uncommon genetic variant associated with AD risk. PMID:22100662

  15. [Tungiasis, an uncommon ectoparisitic disease].

    PubMed

    Bourée, Patrice; Ossé, Lauranne; Rabenandrasana, Fanambinantsoa

    2009-02-20

    Tungiasis is an infestation of the skin due to the sand flea chigger (or Tunga penetrans). After penetration under the nails of the feet, this ectoparasite enlarged and the lesion becomes painful. Diagnosis is made on the past history (travel in tropical areas) and the inspection. Treatment consists of extraction the insect entire, and administration of topical antiseptic lotion.

  16. Detection of (1→3)-β-d-Glucan as an Adjunct to Diagnosis in a Mixed Population with Uncommon Proven Invasive Fungal Diseases or with an Unusual Clinical Presentation▿

    PubMed Central

    Cuétara, María Soledad; Alhambra, Almudena; Moragues, María Dolores; González-Elorza, Ernesto; Pontón, José; del Palacio, Amalia

    2009-01-01

    This single-center observational prospective study evaluated the performance of (1→3)-β-d-glucan as an adjunct diagnostic tool in 12 patients with proven invasive fungal disease with different risk factors. The infections were due to either uncommon fungal pathogens such as dematiaceous molds (Scedosporium apiospermum, Alternaria infectoria, and Cladosporium macrocarpum) and hyaline septate molds (Fusarium solani and Blastoschizomyces capitatus) or Aspergillus spp. with unusual clinical presentations. PMID:19158282

  17. Imaging of uncommon retroperitoneal masses.

    PubMed

    Rajiah, Prabhakar; Sinha, Rakesh; Cuevas, Carlos; Dubinsky, Theodore J; Bush, William H; Kolokythas, Orpheus

    2011-01-01

    Retroperitoneal masses not arising from major solid organs are uncommon. Although there is no simple method of classifying retroperitoneal masses, a reasonable approach is to consider the masses as predominantly solid or cystic and to subdivide these into neoplastic and nonneoplastic masses. Because the treatment options vary, it is useful to be able to differentiate these masses by using imaging criteria. Although the differential diagnosis of retroperitoneal masses can be narrowed down to a certain extent on the basis of imaging characteristics, patterns of involvement, and demographics, there is still a considerable overlap of imaging findings for these masses, and histologic examination is often required for definitive diagnosis. Computed tomography (CT) and magnetic resonance (MR) imaging play an important role in characterization and in the assessment of the extent of the disease and involvement of adjacent and distant structures. Familiarity with the CT and MR imaging features of various retroperitoneal masses will facilitate accurate diagnosis and staging for aggressive lesions.

  18. An Uncommon Case of Chronic Tubercular Appendicitis

    PubMed Central

    Maharjan, Sushna

    2015-01-01

    Tuberculosis (TB) is a common disease that ranks as the second leading cause of death from an infectious disease worldwide, after the human immunodeficiency virus (HIV). However, primary TB of the appendix is rare and may or may not be associated with specific clinical features. Thus, diagnosis is made only after histopathological examination. It suggests that all surgically removed appendices should be subjected to histopathological examination. This reported case is an uncommon case of chronic tubercular appendicitis. PMID:26649216

  19. Tips to diagnose uncommon nail disorders.

    PubMed

    Schneider, Samantha L; Tosti, Antonella

    2015-04-01

    This article reviews 6 nail disorders that, although easy to diagnose, are misdiagnosed frequently by dermatologists and general practitioners. Diagnostic clues are emphasized to familiarize readers with features that indicate the correct diagnosis. We focus on two common tumors (onychomatricoma and onychopapilloma), two rare genetic conditions that can be diagnosed owing to nail changes (Darier disease and nail patella syndrome), and two uncommon acquired disorders (the yellow nail syndrome and lichen striatus). PMID:25828712

  20. Case studies of uncommon headaches.

    PubMed

    Evans, Randolph W

    2006-05-01

    The following interesting and uncommon headache disorders are presented through case studies: exploding head syndrome, hypnic headache, neck-tongue syndrome, "Alice in Wonderland" syndrome, nummular headache, red ear syndrome, burning mouth syndrome, spontaneous intracranial hypotension syndrome, and cardiac cephalalgia. PMID:16684636

  1. Ameloblastic fibroma: an uncommon entity.

    PubMed

    Vij, Ruchieka; Vij, Hitesh

    2013-07-09

    Ameloblastic fibroma is an uncommon mixed odontogenic tumour, which is often confused with ameloblastoma. It exhibits both epithelial and mesenchymal components with absence of any calcified dental structure. This paper presents two cases of this rare entity with detailed review of literature.

  2. Uncommon clinical presentation of Kimura’s disease as bilateral retroauricular masses in a young Malian male: successful surgical approach.

    PubMed

    Fama, F; Sindoni, A; Tchernev, G; Chokoeva, A A; Wollina, U; Lotti, T; Maximov, G K; Patterson, J W; Fioranelli, M; Roccia, M G; Ieni, A; Cascio, A; Gioffre-Florio, M; Guarneri, C

    2016-01-01

    We present a case of a 27 year-old Malian male referred to our hospital for two large, painless retroauricolar masses that had appeared two years earlier. Bilateral cervical painless lymphadenopathy was present at physical examination, without any other systemic symptoms. His history was relevant for bilateral Kimura’s disease lesions resected 5 years earlier in the same locations. Lymphocytosis and a mild hypereosinophilia were found in routine blood tests, together with increased total IgE levels. After surgery, histology showed lymphoid infiltrates with reactive prominent germinal centres containing eosinophils, suggesting relapse of Kimura’s disease, in the context of nonencapsulated fibrous proliferation with discontinuous collagen fibers, consistent with keloid. Three months after removal of retroauricular masses, abnormal laboratory findings reverted to normal. To the best our knowledge, this is the first case in literature of bilateral keloid lesions developed after surgery for Kimura Disease and harbouring its histopathologic features. Clinicians should be aware of these unusual reactive phenomena and their possible simulators. PMID:27373132

  3. Uncommon cases of pityriasis versicolor.

    PubMed

    Romano, C

    2008-06-01

    Malassezia may play a role in several dermatoses. It is responsible for foliculitis and mainly for pityriasis versicolor. Pityriasis versicolor is the most known dermatitis because of its clinical aspects and frequently for its poor response to the therapy, mainly in chronic forms. The clinical aspects of uncommon and rare forms of pityriasis versicolor have been reported. The data related to the patients observed in the last thirty years in Siena are reported. In addition, a study was carried out in Pisa by Professor F. Mancianti to identify species of Malassezia isolated in 37 patients.

  4. Progressive Pigmentary Purpura

    MedlinePlus

    ... Category: Share: Yes No, Keep Private Progressive Pigmentary Purpura Share | Progressive pigmentary purpura (we will call it PPP) is a group ... conditions ( Schamberg's disease , Lichenoid dermatitis of Gourgerot-Blum, purpura annularis telangiectodes of Majocchi and Lichen aureus). Schamberg's ...

  5. Pictorial essay: Uncommon causes of coronary artery encasement.

    PubMed

    Yong, Yan Rong; Lath, Narayan; Cheah, Foong Koon; Ng, Yuen Li

    2016-01-01

    This pictorial essay presents cases of non-atherosclerotic coronary artery encasement which were encountered in our institution, including malignant lymphoma, Erdheim-Chester disease, immunoglobulin G4 (IgG4)-related disease and Polyarteritis Nodosa. These conditions usually have multisystemic involvement which aid in the diagnosis. Awareness of these uncommon disorders and their ancillary findings can facilitate early, accurate diagnosis and appropriate management.

  6. Uncommon Success: A Conversation with Brett Peiser

    ERIC Educational Resources Information Center

    Meyer, Peter

    2014-01-01

    This article introduces a conversation with Brett Peiser, named chief executive officer of "Uncommon Schools" in July of 2012, along with the principal of North Star Academy Vailsburg Middle School, a charter school in Newark, New Jersey's West Ward. There is no doubt that "Uncommon Schools" has given thousands of…

  7. [Pemphigoid gestationis and Turner syndrome; an uncommon association].

    PubMed

    Cadoret, F; Lorenzini, F; Parant, O

    2015-09-01

    The authors report an uncommon case of a pregnant woman with Turner syndrome (TS) whose pregnancy (with favorable outcome) was complicated by a pemphigoid gestationis in third trimester. This case points out that monitoring of these pregnancies is not limited to cardiac monitoring. Prevalence of auto-immune diseases is increased in the TS. Auto-immune dermatoses, such as pemphigoid gestationis, are one of the potential complications during pregnancy and should be known to practitioners.

  8. Onychoprotothecosis: An uncommon presentation of protothecosis.

    PubMed

    Gandham, N R; Vyawahare, C R; Chaudhaury, N; Shinde, R A

    2015-01-01

    Onychomycosis is a fairly common condition seen in a dermatology clinic. Dermatophytes Trichophyton and Epidermophyton are the known filamentous fungi implicated. The yeast-like fungi such as Candida less commonly cause Onychomycosis. The genus Prototheca may on preliminary observation resemble yeast-like fungi but a detailed microscopy will reveal the absence of budding and presence of endospores. Onychoprotothecosis is an uncommon presentation of human protothecosis. Of the two Prototheca species (Prototheca zopfii and Prototheca wickerhamii) known to cause the disease, P. wickerhamii has been reported more commonly. We report a culture proven case of this condition caused by P. zopfii. The patient, a 55-year-old housewife presented with discolouration and breaking off of the right thumb and forefinger nails since a period of six months. Samples of nail scrapping sent to the Microbiology Laboratory were culture-positive for Prototheca. Speciation by the automated Vitek-2 system (bioMerieux) identified the isolate as P. zopfii, which was further confirmed at PGI, Chandigarh. PMID:26068353

  9. Clashes At Nursing Homes Not Uncommon

    MedlinePlus

    ... medlineplus.gov/news/fullstory_159335.html Clashes at Nursing Homes Not Uncommon 20 percent of residents affected ... 13, 2016 (HealthDay News) -- Many elderly adults in nursing homes face aggressive or disturbing behavior from their ...

  10. Uncommon illness from common infections.

    PubMed Central

    Christian, C. L.

    1988-01-01

    Individual common infectious agents such as EBV, CMV and HBV have well characterized relationships to a variety of acute and chronic disease states; the host and/or environment variables underlying this clinical heterogeneity are not known. Given the high frequency of these viral infections in the general population, there should be a cautious interpretation of antiviral serological data. PMID:3332514

  11. Uncommon Manifestations of Intervertebral Disk Pathologic Conditions.

    PubMed

    Diehn, Felix E; Maus, Timothy P; Morris, Jonathan M; Carr, Carrie M; Kotsenas, Amy L; Luetmer, Patrick H; Lehman, Vance T; Thielen, Kent R; Nassr, Ahmad; Wald, John T

    2016-01-01

    Beyond the familiar disk herniations with typical clinical features, intervertebral disk pathologic conditions can have a wide spectrum of imaging and clinical manifestations. The goal of this review is to illustrate and discuss unusual manifestations of intervertebral disk pathologic conditions that radiologists may encounter, including disk herniations in unusual locations, those with atypical imaging features, and those with uncommon pathophysiologic findings. Examples of atypical disk herniations presented include dorsal epidural, intradural, symptomatic thoracic (including giant calcified), extreme lateral (retroperitoneal), fluorine 18 fluorodeoxyglucose-avid, acute intravertebral (Schmorl node), and massive lumbar disk herniations. Examples of atypical pathophysiologic conditions covered are discal cysts, fibrocartilaginous emboli to the spinal cord, tiny calcified disks or disk-level spiculated osteophytes causing spinal cerebrospinal fluid (CSF) leak and intracranial hypotension, and pediatric acute calcific discitis. This broad gamut of disease includes a variety of sizes of disk pathologic conditions, from the tiny (eg, the minuscule calcified disks causing high-flow CSF leaks) to the extremely large (eg, giant calcified thoracic intradural disk herniations causing myelopathy). A spectrum of clinical acuity is represented, from hyperacute fibrocartilaginous emboli causing spinal cord infarct, to acute Schmorl nodes, to chronic intradural herniations. The entities included are characterized by a range of clinical courses, from the typically devastating cord infarct caused by fibrocartilaginous emboli, to the usually spontaneously resolving pediatric acute calcific discitis. Several conditions have important differential diagnostic considerations, and others have relatively diagnostic imaging findings. The pathophysiologic findings are well understood for some of these entities and poorly defined for others. Radiologists' knowledge of this broad scope of

  12. Uncommon hepatic tumors: iconographic essay - Part 1*

    PubMed Central

    Pedrassa, Bruno Cheregati; da Rocha, Eduardo Lima; Kierszenbaum, Marcelo Longo; Bormann, Renata Lilian; Torres, Lucas Rios; D'Ippolito, Giuseppe

    2014-01-01

    Most malignant liver tumors are represented by hepatocellular carcinoma and cholangiocarcinoma; however a variety of other uncommon hepatic lesions might also be found. Common lesions such as hemangioma, focal nodular hyperplasia and metastases are well known and have already been extensively documented in the literature. The diagnosis of typical hepatic lesions may be done with some reliability by means of several imaging methods; on the other hand, uncommon lesions normally represent a diagnostic challenge for the radiologist. In this first part of the study, the authors will approach five uncommon liver tumors - angiosarcoma, angiomyolipoma, cystadenoma/biliary carcinoma, epithelioid hemangioendothelioma, and fibrolamellar hepatocellular carcinoma -, describing their main characteristics and image findings with focus on computed tomography and magnetic resonance imaging. PMID:25741106

  13. Culture, Relevance, and Schooling: Exploring Uncommon Ground

    ERIC Educational Resources Information Center

    Scherff, Lisa, Ed.; Spector, Karen, Ed.

    2011-01-01

    In "Culture, Relevance, and Schooling: Exploring Uncommon Ground," Lisa Scherff, Karen Spector, and the contributing authors conceive of culturally relevant and critically minded pedagogies in terms of opening up new spatial, discursive, and/or embodied learning terrains. Readers will traverse multiple landscapes and look into a variety of spaces…

  14. An Uncommon Presentation of Breast Implant Rupture

    PubMed Central

    Watson, David I.; Dean, Nicola R.

    2016-01-01

    Summary: Late periprosthetic seroma has lately been concerning for breast implant-associated anaplastic large cell lymphoma. The authors present an uncommon presentation of breast implant rupture with a seroma and skin rash forming 2 years after insertion of the implant. PMID:27579243

  15. Catalog of Uncommon Facilities in Southern Universities.

    ERIC Educational Resources Information Center

    Southern Regional Education Board, Atlanta, GA.

    This catalog of uncommon facilities in southern universities was developed in an effort to bring about more effective use of existing facilities, to reduce the need for duplicating certain facilities, and to increase learning and research opportunities. All of the facilities listed are available, under certain conditions, for use by students and…

  16. An uncommon cause of acute pulmonary edema.

    PubMed

    Nepal, Santosh; Giri, Smith; Bhusal, Mohan; Siwakoti, Krishmita; Pathak, Ranjan

    2016-09-01

    Acute cardiogenic pulmonary edema secondary to catecholamine-induced cardiomyopathy is a very uncommon and fatal initial presentation of pheochromocytoma. However, with early clinical suspicion and aggressive management, the condition is reversible. This case report describes a patient who presented with hypertension, dyspnea, and cough with bloody streaks, and who recovered within 48 hours after appropriate treatment. PMID:27575897

  17. An Uncommon Presentation of Breast Implant Rupture.

    PubMed

    Koh, Eugene; Watson, David I; Dean, Nicola R

    2016-05-01

    Late periprosthetic seroma has lately been concerning for breast implant-associated anaplastic large cell lymphoma. The authors present an uncommon presentation of breast implant rupture with a seroma and skin rash forming 2 years after insertion of the implant. PMID:27579243

  18. Uncommon opportunistic yeast bloodstream infections from Qatar.

    PubMed

    Taj-Aldeen, Saad J; AbdulWahab, Atqah; Kolecka, Anna; Deshmukh, Anand; Meis, Jacques F; Boekhout, Teun

    2014-07-01

    Eleven uncommon yeast species that are associated with high mortality rates irrespective of antifungal therapy were isolated from 17/187 (201 episodes) pediatric and elderly patients with fungemia from Qatar. The samples were taken over a 6-year period (January 2004-December 2010). Isolated species included Kluyveromyces marxianus, Lodderomyces elongisporus, Lindnera fabianii, Candida dubliniensis, Meyerozyma guilliermondii, Candida intermedia, Pichia kudriavzevii, Yarrowia lipolytica, Clavispora lusitaniae, Candida pararugosa, and Wickerhamomyces anomalus. Matrix-assisted laser desorption/ionization time-of-flight mass spectrometry provided correct identifications compared with molecular analysis testing of the same isolates. Low minimal inhibitory concentrations were found when isavuconazole and voriconazole were used for all uncommon yeast species evaluated in this study. Resistance to antifungal drugs was low and remained restricted to a few species. PMID:24934803

  19. Frequency of uncommon abbreviations in medical journals.

    PubMed

    Shocket, E

    1995-03-01

    Although the use of abbreviations not understood by the average reader is discouraged by journal editors, I nevertheless found that 43% of 147 articles published during June 1993 in eight general and surgical journals contained uncommon abbreviations. In 26 (18%) of the 147 articles, all the abbreviations and their explanatory decoding words appeared at the front of the article, either in the abstract or in the first paragraph. This up front position makes easier the reader's back-search. In 37 other articles (25%), at least one uncommon abbreviation was decoded somewhere in the body of the article. In 21 articles (14%) the uncommon abbreviations appeared in the concluding or summating paragraph(s) and the explanatory decoding words were buried in the body of the article, thus making difficult the reader's back-search. Corrective action might include (1) editorial and peer review enforcement of the "no nonstandard abbreviation" policy, which is easily done with computerized word processing; (2) tabulation of all abbreviations with their decoding words either just below the abstract at the front of the article or just above the bibliography at the rear; or (3) expansion of each abbreviation in a footnote at the bottom of the appropriate page.

  20. Uncommon Presentation of Triploidy: A Case Report

    PubMed Central

    Pata, Özlem; Unlu, Cihat; Tokat, Fatma; Ozdemir, Mucize

    2015-01-01

    A 28-year-old woman presented in her first pregnancy was admitted with severe hyperemesis gravidarium. Increased nuchal translucency with cardiac anomaly and omphalocele at the first trimester was observed at the ultrasound examination. Chorionic villus biopsy confirmed triploidy. The combination of type I and type II triploidy patterns were seen together in the second trimester of the pregnancy. Although the symptoms due to increased human chorionic levels occured, at the pathologic investigation there were no molar changes in the placenta. Here we report a case of uncommon presentation of triploidy. PMID:26557571

  1. Retiform Hemangioendothelioma: An Uncommon Pediatric Vascular Neoplasm

    PubMed Central

    Ranga, Swaroop M; Kuchangi, Nischal C; Shankar, Vijay S; Amita, K; Haleuoor, Basavaraj B; Belagola, Sathyanarayana D

    2014-01-01

    Retiform hemangioendothelioma is considered as a low grade angiosarcoma, commonly seen in 2nd-4th decade of life. The youngest patient reported is of 9 years of age. A 9-year-old boy was presented with an asymptomatic red patch on the chest since 1 year. There was an erythematous patch with nodule of about 5 mm near the distal margin. Biopsy from the nodule revealed numerous thin-walled branching vessels in dermis resembling rete testis, suggestive of retiform hemangioendothelioma. We, hereby, report this case for its rarity and uncommon clinical presentation in childhood period. PMID:25484427

  2. Deep brain stimulation for the treatment of uncommon tremor syndromes

    PubMed Central

    Ramirez-Zamora, Adolfo; Okun, Michael S.

    2016-01-01

    ABSTRACT Introduction: Deep brain stimulation (DBS) has become a standard therapy for the treatment of select cases of medication refractory essential tremor and Parkinson’s disease however the effectiveness and long-term outcomes of DBS in other uncommon and complex tremor syndromes has not been well established. Traditionally, the ventralis intermedius nucleus (VIM) of the thalamus has been considered the main target for medically intractable tremors; however alternative brain regions and improvements in stereotactic techniques and hardware may soon change the horizon for treatment of complex tremors. Areas covered: In this article, we conducted a PubMed search using different combinations between the terms ‘Uncommon tremors’, ‘Dystonic tremor’, ‘Holmes tremor’ ‘Midbrain tremor’, ‘Rubral tremor’, ‘Cerebellar tremor’, ‘outflow tremor’, ‘Multiple Sclerosis tremor’, ‘Post-traumatic tremor’, ‘Neuropathic tremor’, and ‘Deep Brain Stimulation/DBS’. Additionally, we examined and summarized the current state of evolving interventions for treatment of complex tremor syndromes. Expert c ommentary: Recently reported interventions for rare tremors include stimulation of the posterior subthalamic area, globus pallidus internus, ventralis oralis anterior/posterior thalamic subnuclei, and the use of dual lead stimulation in one or more of these targets. Treatment should be individualized and dictated by tremor phenomenology and associated clinical features. PMID:27228280

  3. Herpes Simplex Encephalitis: An Uncommon Presentation

    PubMed Central

    Bansal, Sunil; Bhatia, Rohan; Ahmad, Sohaib

    2016-01-01

    Herpes Simplex Virus (HSV) encephalitis is an uncommon illness, with about 2 cases per 250,000 per year. Most are caused by HSV-1, with 10% having HSV-2 as the aetiologic factor. We present a case of Herpes simplex type1encephalitis in a 70 year old male with an uncommon presentation. The patient was a known case of endogenous depression with no medical records and on no treatment for the same, reported with acute changes in mental state for the past five days. He was talking irrelevantly, had hallucinations and was unduly aggressive and violent. He was subjected to a thorough clinical and diagnostic work-up which included cerebrospinal fluid analysis, CT head and MRI brain. MRI brain was suggestive of mild subdural effusion which hinted towards infectious cause of encephalitis. The cerebrospinal fluid viral serology panel detected herpes simplex type 1 virus (HSV1) that was later confirmed by CSF Polymerase Chain Reaction (PCR) technique. Hence, acyclovir was initiated by intravenous route at a dosage of 10mg/kg body weight and continued for two weeks. This case holds significance in view of the fact that organic causes must be excluded in suspected cases of psychiatric illness especially in the absence of fever. Also, CSF-PCR testing plays a pivotal role in diagnosing herpes simplex encephalitis. PMID:27437286

  4. Herpes Simplex Encephalitis: An Uncommon Presentation.

    PubMed

    Kaeley, Nidhi; Bansal, Sunil; Bhatia, Rohan; Ahmad, Sohaib

    2016-05-01

    Herpes Simplex Virus (HSV) encephalitis is an uncommon illness, with about 2 cases per 250,000 per year. Most are caused by HSV-1, with 10% having HSV-2 as the aetiologic factor. We present a case of Herpes simplex type1encephalitis in a 70 year old male with an uncommon presentation. The patient was a known case of endogenous depression with no medical records and on no treatment for the same, reported with acute changes in mental state for the past five days. He was talking irrelevantly, had hallucinations and was unduly aggressive and violent. He was subjected to a thorough clinical and diagnostic work-up which included cerebrospinal fluid analysis, CT head and MRI brain. MRI brain was suggestive of mild subdural effusion which hinted towards infectious cause of encephalitis. The cerebrospinal fluid viral serology panel detected herpes simplex type 1 virus (HSV1) that was later confirmed by CSF Polymerase Chain Reaction (PCR) technique. Hence, acyclovir was initiated by intravenous route at a dosage of 10mg/kg body weight and continued for two weeks. This case holds significance in view of the fact that organic causes must be excluded in suspected cases of psychiatric illness especially in the absence of fever. Also, CSF-PCR testing plays a pivotal role in diagnosing herpes simplex encephalitis. PMID:27437286

  5. Allergy to Uncommon Pets: New Allergies but the Same Allergens

    PubMed Central

    Díaz-Perales, Araceli; González-de-Olano, David; Pérez-Gordo, Marina; Pastor-Vargas, Carlos

    2013-01-01

    The prevalence of exotic pet allergies has been increasing over the last decade. Years ago, the main allergy-causing domestic animals were dogs and cats, although nowadays there is an increasing number of allergic diseases related to insects, rodents, amphibians, fish, and birds, among others. The current socio-economic situation, in which more and more people have to live in small apartments, might be related to this tendency. The main allergic symptoms related to exotic pets are the same as those described for dog and cat allergy: respiratory symptoms. Animal allergens are therefore, important sensitizing agents and an important risk factor for asthma. There are three main protein families implicated in these allergies, which are the lipocalin superfamily, serum albumin family, and secretoglobin superfamily. Detailed knowledge of the characteristics of allergens is crucial to improvement treatment of uncommon-pet allergies. PMID:24416032

  6. Complex Pediatric Elbow Injury: An Uncommon Case

    PubMed Central

    Sharma, H; Ayer, R; Taylor, GR

    2005-01-01

    Background There is paucity of literature describing complex elbow trauma in the pediatric population. We described a case of an uncommon pediatric elbow injury comprised of lateral condyle fracture associated with posterolateral dislocation of elbow. Case presentation A 12-year-old boy sustained a direct elbow trauma and presented with Milch type II lateral condyle fracture associated with posterolateral dislocation of elbow. Elbow dislocation was managed by closed reduction. The elbow stability was assessed under general anaesthesia, followed by open K-wiring for the lateral condylar fracture fixation. The patient had an uneventful recovery with an excellent outcome at 39 months follow-up. Conclusion Complex pediatric elbow injuries are quite unusual to encounter, the management of such fractures can be technically demanding. Concomitant elbow dislocation should be managed by closed reduction followed by open reduction and internal fixation (K-wires or cannulated screws) of the lateral condyle fracture. PMID:15757518

  7. Solitary fibrous tumor with atypical histological features occurring in the palatine tonsil: an uncommon neoplasm in an uncommon site.

    PubMed

    Macarenco, Ricardo Silvestre; Bacchi, Carlos E; Domingues, Maria Aparecida Custódio

    2006-11-01

    Solitary fibrous tumor (SFT) is an uncommon mesenchymal neoplasm that usually arises in the pleura. Although this tumor has been described in other sites, including the head and neck area, in the oropharynx it is extremely rare. We report the first case of a SFT arising from the palatine tonsil of a 62-year-old man. The tumor consisted of spindle-shaped cells distributed in a haphazard pattern and presented atypical histological features such as hypercellular areas and high mitotic count. Immunohistochemical studies showed strong positivity for CD34 and bcl-2, and weak positivity for desmin. Smooth muscle actin, S-100 protein and cytokeratines were negative. The patient was well without disease 1 year after surgery.

  8. A content analysis of cognitive and affective uses of patient support groups for rare and uncommon vascular diseases: comparisons of may thurner, thoracic outlet, and superior mesenteric artery syndrome.

    PubMed

    Walker, Kimberly K

    2015-01-01

    Rare disease patients are the predominant group of patients who are now connecting online to patient support groups, yet research on their uses of support groups has received little attention. This is a content analysis of three vascular diseases of differing degrees of rarity. Wall posts from Facebook patient support groups for May Thurner syndrome, thoracic outlet syndrome, and superior mesenteric artery syndrome were analyzed over a period of two years. Using Uses and Gratifications as the theoretical framework, the study purpose was to assess how variations in health condition and rarity of condition affect online support group user needs. Results indicated common main cognitive and affective uses across conditions, indicating a consistent pattern of needs communicated by all patients. However, there were nuanced differences in subcategories of cognitive and affective uses between the most and least rare disorders, which inform areas for tailored support mechanisms. Additionally, these vascular patients used their respective support groups primarily for cognitive reasons, especially for the rarest conditions, which informs of basic medical informational needs these patients face related to tests, treatment, surgery, and diagnoses.

  9. A content analysis of cognitive and affective uses of patient support groups for rare and uncommon vascular diseases: comparisons of may thurner, thoracic outlet, and superior mesenteric artery syndrome.

    PubMed

    Walker, Kimberly K

    2015-01-01

    Rare disease patients are the predominant group of patients who are now connecting online to patient support groups, yet research on their uses of support groups has received little attention. This is a content analysis of three vascular diseases of differing degrees of rarity. Wall posts from Facebook patient support groups for May Thurner syndrome, thoracic outlet syndrome, and superior mesenteric artery syndrome were analyzed over a period of two years. Using Uses and Gratifications as the theoretical framework, the study purpose was to assess how variations in health condition and rarity of condition affect online support group user needs. Results indicated common main cognitive and affective uses across conditions, indicating a consistent pattern of needs communicated by all patients. However, there were nuanced differences in subcategories of cognitive and affective uses between the most and least rare disorders, which inform areas for tailored support mechanisms. Additionally, these vascular patients used their respective support groups primarily for cognitive reasons, especially for the rarest conditions, which informs of basic medical informational needs these patients face related to tests, treatment, surgery, and diagnoses. PMID:24877701

  10. Uncommon Sense - The Heretical Nature of Science

    NASA Astrophysics Data System (ADS)

    Cromer, Alan

    1995-08-01

    Most people believe that science arose as a natural end-product of our innate intelligence and curiosity, as an inevitable stage in human intellectual development. But physicist and educator Alan Cromer disputes this belief. Cromer argues that science is not the natural unfolding of human potential, but the invention of a particular culture, Greece, in a particular historical period. Indeed, far from being natural, scientific thinking goes so far against the grain of conventional human thought that if it hadn't been discovered in Greece, it might not have been discovered at all.In Uncommon Sense , Alan Cromer develops the argument that science represents a radically new and different way of thinking. Using Piaget's stages of intellectual development, he shows that conventional thinking remains mired in subjective, "egocentric" ways of looking at the world--most people even today still believe in astrology, ESP, UFOs, ghosts and other paranormal phenomena--a mode of thought that science has outgrown. He provides a fascinating explanation of why science began in Greece, contrasting the Greek practice of debate to the Judaic reliance on prophets for acquiring knowledge. Other factors, such as a maritime economy and wandering scholars (both of which prevented parochialism) and an essentially literary religion not dominated by priests, also promoted in Greece an objective, analytical way of thinking not found elsewhere in the ancient world. He examines India and China and explains why science could not develop in either country. In China, for instance, astronomy served only the state, and the private study of astronomy was forbidden. Cromer also provides a perceptive account of science in Renaissance Europe and of figures such as Copernicus, Galileo, and Newton. Along the way, Cromer touches on many intriguing topics, arguing, for instance, that much of science is essential complete; there are no new elements yet to be discovered. He debunks the vaunted SETI (Search for

  11. Extraordinary electronic properties in uncommon structure types

    NASA Astrophysics Data System (ADS)

    Ali, Mazhar Nawaz

    In this thesis I present the results of explorations into several uncommon structure types. In Chapter 1 I go through the underlying idea of how we search for new compounds with exotic properties in solid state chemistry. The ideas of exploring uncommon structure types, building up from the simple to the complex, using chemical intuition and thinking by analogy are discussed. Also, the history and basic concepts of superconductivity, Dirac semimetals, and magnetoresistance are briefly reviewed. In chapter 2, the 1s-InTaS2 structural family is introduced along with the discovery of a new member of the family, Ag0:79VS2; the synthesis, structure, and physical properties of two different polymorphs of the material are detailed. Also in this chapter, we report the observation of superconductivity in another 1s structure, PbTaSe2. This material is especially interesting due to it being very heavy (resulting in very strong spin orbit coulping (SOC)), layered, and noncentrosymmetric. Electronic structure calculations reveal the presence of a bulk 3D Dirac cone (very similar to graphene) that is gapped by SOC originating from the hexagonal Pb layer. In Chapter 3 we show the re-investigation of the crystal structure of the 3D Dirac semimetal, Cd3As2. It is found to be centrosymmetric, rather than noncentrosymmetric, and as such all bands are spin degenerate and there is a 4-fold degenerate bulk Dirac point at the Fermi level, making Cd3As2 a 3D electronic analog to graphene. Also, for the first time, scanning tunneling microscopy experiments identify a 2x2 surface reconstruction in what we identify as the (112) cleavage plane of single crystals; needle crystals grow with a [110] long axis direction. Lastly, in chapter 4 we report the discovery of "titanic" (sadly dubbed ⪉rge, nonsaturating" by Nature editors and given the acronym XMR) magnetoresistance (MR) in the non-magnetic, noncentrosymmetric, layered transition metal dichalcogenide WTe2; over 13 million% at 0.53 K in

  12. Uncommon corrosion phenomena of archaeological bronze alloys

    NASA Astrophysics Data System (ADS)

    Ingo, G. M.; de Caro, T.; Riccucci, C.; Khosroff, S.

    2006-06-01

    In the framework of the EFESTUS project (funded by the European Commission, contract No. ICA3-CT-2002-10030) the corrosion products of a large number of archaeological bronze artefacts are investigated by means of the combined use of scanning electron microscopy (SEM), energy dispersive spectrometry (EDS), X-ray diffraction (XRD) and optical microscopy (OM) and tentative correlation of their nature with the chemical composition of the artefacts and the burial context is proposed. The results provide good insight into the corrosion layers and evidence in some bronze Roman coins and artefacts; the occurrence of uncommon corrosion phenomena that give rise to the formation of a yellowish-green complex chlorine-phosphate of lead (pyromorphite, (PbCl)Pb4(PO4)3) and of a gold-like thick layer of an iron and copper sulphide (chalcopyrite, CuFeS2). The micro-chemical and micro-structural results show that the coins were buried in a soil enriched in phosphorus for the accidental presence of a large amount of decomposing fragments of bones or in an anaerobic and humus rich soil where the chalcopyrite layer has been produced via the interaction between the iron of the soil, the copper of the coin and the sulphur produced by the decomposition of organic matter in an almost oxygen free environment. Finally, some unusual periodic corrosion phenomena occurring in high tin bronze mirrors found at Zama (Tunisia) are described.

  13. [Abdominal aortic aneurysm: an uncommon presentation].

    PubMed

    Taborda, Lúcia; Pereira, Laurinda; Amona, Eurides; Pinto, Erique Guedes; Rodrigues, Joaquim

    2011-01-01

    Most abdominal aortic aneurysms are asymptomatic, being accidentally found on physical examination or in routinely performed imaging studies. They only require surveillance (which is variable according to the aneurism size) and medical therapy in order to achieve risk factor reduction. However, in certain situations, according to the risk of aneurism rupture, elective surgery or endovascular procedure may be necessary. About 80% of the cases of aneurism rupture occur into the retroperitoneal space, with a high mortality rate. There are uncommon presentations of aneurism rupture as the aorto-caval fistula, which also require fast diagnosis and intervention. The authors present the case of a 71-year-old man, with the previous diagnosis of hypertension, acute myocardial infarction 2 months earlier (undergone primary Percutaneous Coronary Intervention) and tabagism, who was admitted at the emergency department with intense 24-hour-evolution epigastric pain. On physical examination, the Blood Pressure values measured at the lower limbs were about half the ones measured at the upper limbs and there was an abdominal pulsatile mass, with a high-intensity murmur. As the authors suspected aortic dissection, aneurysm, coarctation or thrombosis, it was done a Computed Tomography scanning with intravenous contrast, which revealed a ruptured abdominal aorta aneurysm with a mural thrombus. The doppler ultrasound confirmed the presence of a high debit aorto-caval fistula. The patient was immediately transferred to the Vascular Surgery. However he died 2 hours later, during surgery. PMID:22525642

  14. Infectious Spondylodiscitis by Uncommon Pathogens: A Pitfall of Empirical Antibiotics

    PubMed Central

    Yu, Seung Han; Kim, Dong Hwan; Kim, Hwan Soo; Nam, Kyoung Hyup; Choi, Byung Kwan

    2016-01-01

    Objective The goal of this study is to evaluate the prevalence of spondylodiscitis (SD) caused by uncommon pathogens and review the efficacy of the treatment strategy including the coverage by usual empirical broad-spectrum antibiotic therapy. Methods Ninety-nine consecutive patients diagnosed and treated for infectious SD between January 2007 to May 2015 were reviewed retrospectively. The prevalence of uncommon SD, predisposing factors, antibiotics sensitivity, and clinical outcome were analyzed in comparison with that of common SD. Results Among 99 patients, 68 patients were culture positive. Out of 68 patients with positive culture results, 54 of them(79.4%) were common pathogen and 14 (20.6%) were uncommon pathogen. Postoperative SDs were significantly prevalent in uncommon SD(42.9%) than common SD(27.8%). Recurrence rate was higher in uncommon pathogen SD(14.3%) than common SD group (2.3%), and it showed statistically significant difference (p=0.025). Empirical antibiotics of vancomycin and 3rd or 4th generation cephalosporin covered 100% of nontuberculous common SD and 14.3% of uncommon SD. Conclusion In our study, the prevalence of uncommon SD was relatively high uncommon (20.5% of culture positive SD and 14.1% of total cases) and the coverage rate of empirical antibiotics for them were only 14.3%. In particular, the possibility of SD with fun gal, polymicrobial, or multiple drug resistant organism should be considered in SD unresponsive to broad spectrum antibiotics therapy. PMID:27799986

  15. Uncommon Candida Species Fungemia among Cancer Patients, Houston, Texas, USA.

    PubMed

    Jung, Dong Sik; Farmakiotis, Dimitrios; Jiang, Ying; Tarrand, Jeffrey J; Kontoyiannis, Dimitrios P

    2015-11-01

    Many uncommon Candida species that cause bloodstream infections (BSIs) are not well-characterized. We investigated the epidemiology, antifungal use, susceptibility patterns, and factors associated with all-cause death among cancer patients in whom uncommon Candida spp. BSIs were diagnosed at a cancer treatment center during January 1998–September 2013. Of 1,395 Candida bloodstream isolates, 79 from 68 patients were uncommon Candida spp. The incidence density of uncommon Candida spp. BSIs and their proportion to all candidemia episodes substantively increased during the study period, and the rise was associated with increasing use of echinocandin antifungal drugs. Thirty-seven patients had breakthrough infections during therapy or prophylaxis with various systemic antifungal drugs for >7 consecutive days; 21 were receiving an echinocandin. C. kefyr (82%), and C. lusitaniae (21%) isolates frequently showed caspofungin MICs above the epidemiologic cutoff values. These findings support the need for institutional surveillance for uncommon Candida spp. among cancer patients.

  16. Haplotype Kernel Association Test as a Powerful Method to Identify Chromosomal Regions Harboring Uncommon Causal Variants

    PubMed Central

    Lin, Wan-Yu; Yi, Nengjun; Lou, Xiang-Yang; Zhi, Degui; Zhang, Kui; Gao, Guimin; Tiwari, Hemant K.; Liu, Nianjun

    2014-01-01

    For most complex diseases, the fraction of heritability that can be explained by the variants discovered from genome-wide association studies is minor. Although the so-called ‘rare variants’ (minor allele frequency [MAF] < 1%) have attracted increasing attention, they are unlikely to account for much of the ‘missing heritability’ because very few people may carry these rare variants. The genetic variants that are likely to fill in the ‘missing heritability’ include uncommon causal variants (MAF < 5%), which are generally untyped in association studies using tagging single-nucleotide polymorphisms (SNPs) or commercial SNP arrays. Developing powerful statistical methods can help to identify chromosomal regions harboring uncommon causal variants, while bypassing the genome-wide or exome-wide next-generation sequencing. In this work, we propose a haplotype kernel association test (HKAT) that is equivalent to testing the variance component of random effects for distinct haplotypes. With an appropriate weighting scheme given to haplotypes, we can further enhance the ability of HKAT to detect uncommon causal variants. With scenarios simulated according to the population genetics theory, HKAT is shown to be a powerful method for detecting chromosomal regions harboring uncommon causal variants. PMID:23740760

  17. Unilateral nevoid acanthosis nigricans: Uncommon variant of a common disease

    PubMed Central

    Das, Anupam; Bhattacharya, Sabari; Kumar, Piyush; Gayen, Tirthankar; Roy, Kunal; Das, Nilay K.; Gharami, Ramesh C.

    2014-01-01

    Acanthosis nigricans (AN) is a fairly common dermatosis characterized by hyperpigmented velvety plaques, having a predilection for the intertriginous areas. We herein present a case of unilateral nevoid acanthosis nigricans over the left lateral chest, in an adult male. The rarity of documentation of this entity in the world literature prompted us to report the case. PMID:25506563

  18. An uncommon cause of myocardial ischemia after coronary artery bypass grafting: "the dangerous drainage".

    PubMed

    Beiras-Fernandez, Andres; Möhnle, Patrick; Kopf, Carsten; Vicol, Calin; Kur, Felix; Reichart, Bruno

    2011-06-01

    The most common causes of myocardial ischemia and myocardial infarction early after coronary artery bypass grafting surgery are early graft occlusion/thrombosis or occlusion/ thrombosis of coronary arteries due to advanced coronary heart disease. We describe a case of postoperative myocardial ischemia due to an uncommon and quickly reversible cause: mechanical compression of a vein graft by a 19F flexible silicone mediastinal drainage tube.

  19. The Uncommon Localization of Herpes Zoster

    PubMed Central

    Cukic, Vesna

    2016-01-01

    Introduction: Herpes zoster is an acute, cutaneous viral infection caused by the reactivation of varicella-zoster virus (VZV) that is the cause of varicella. It is an acute neurological disease which can often lead to serious postherpetic neuralgia (PHN). Different nerves can be included with the skin rash in the area of its enervation especially cranial nerves (CV) and intercostal nerves. Case report: In this report we present a patient with herpes zoster which involved ulnar nerve with skin rash in the region of ulnar innervations in women with no disease previously diagnosed. The failure of her immune system may be explained by great emotional stress and overwork she had been exposed to with neglecting proper nutrition in that period. Conclusion: Herpes zoster may involve any nerve with characteristic skin rash in the area of its innervations, and failure in immune system which leads reactivation of VZV may be caused by other factors besides the underlying illness. PMID:26980938

  20. An uncommon focal epithelial hyperplasia manifestation.

    PubMed

    dos Santos-Pinto, Lourdes; Giro, Elisa Maria Aparecida; Pansani, Cyneu Aguiar; Ferrari, Junia; Massucato, Elaine Maria Sgavioli; Spolidório, Luis Carlos

    2009-01-01

    Focal epithelial hyperplasia is a rare, contagious disease associated with infection of the oral mucosa by human papillomavirus types 13 or 32, characterized by multiple soft papules of the same color as the adjacent normal mucosa. It mainly affects the lower lip, buccal mucosa, and tongue. The purpose of this case report was to describe a rare verrucal lesion located in the upper gingiva that was clinically and histologically consistent with focal epithelial hyperplasia. PMID:19941767

  1. Uncommon opportunistic fungal infections of oral cavity: A review

    PubMed Central

    Deepa, AG; Nair, Bindu J; Sivakumar, TT; Joseph, Anna P

    2014-01-01

    The majority of opportunistic oral mucosal fungal infections are due to Candida albicans and Aspergillus fumigatus species. Mucor and Cryptococcus also have a major role in causing oral infections, whereas Geotrichum, Fusarium, Rhodotorula, Saccharomyces and Penicillium marneffei are uncommon pathogens in the oral cavity. The broad spectrum of clinical presentation includes pseudo-membranes, abscesses, ulcers, pustules and extensive tissue necrosis involving bone. This review discusses various uncommon opportunistic fungal infections affecting the oral cavity including their morphology, clinical features and diagnostic methods. PMID:25328305

  2. Loeffler's Syndrome Following Cutaneous Larva Migrans: An Uncommon Sequel

    PubMed Central

    Podder, Indrashis; Chandra, Somodyuti; Gharami, Ramesh Chandra

    2016-01-01

    Cutaneous larva migrans (CLM) is characterized by the formation of distinctive, tortuous, and serpentine skin lesions occurring as a result of epidermal burrowing by certain helminthic larvae. Although this condition is usually uneventful, rarely it may result in patchy pulmonary infiltration with peripheral eosinophilia, also called Loeffler's syndrome. This association is fairly uncommon and is thus being reported. PMID:27057020

  3. An uncommon twist: isolated fallopian tube torsion in an adolescent.

    PubMed

    Kisku, Sundeep; Thomas, Reju Joseph

    2013-01-01

    We report a 13-year-old girl with bilateral paratubal cysts and left isolated fallopian tube torsion (IFTT). Paratubal cysts are uncommon in children, and IFTT is a rare complication. Awareness of this entity and prompt surgical intervention could potentially salvage the fallopian tube preserving fertility. PMID:24024061

  4. An Uncommon Twist: Isolated Fallopian Tube Torsion in an Adolescent

    PubMed Central

    Kisku, Sundeep; Thomas, Reju Joseph

    2013-01-01

    We report a 13-year-old girl with bilateral paratubal cysts and left isolated fallopian tube torsion (IFTT). Paratubal cysts are uncommon in children, and IFTT is a rare complication. Awareness of this entity and prompt surgical intervention could potentially salvage the fallopian tube preserving fertility. PMID:24024061

  5. Catalog of Uncommon Facilities in Western Colleges and Universities.

    ERIC Educational Resources Information Center

    Viehland, Dennis, Comp.

    A list of rare, and often unique, facilities in the western part of the United States is presented that is designed to serve as a resource for researchers. The list of facilities is a guide to what uncommon equipment, centers or institutes, and collections are available at western higher education facilities and what provisions exist for sharing…

  6. Advocacy: Emphasizing the Uncommon about the Common Core State Standards

    ERIC Educational Resources Information Center

    Kaplan, Sandra N.

    2014-01-01

    The author describes key issues and uncommon concerns about the Common Core State Standards that fit within two categories: philosophical and pedagogical. Philosophically, Common Core State K-12 Standards should not be expected to be mastered at a specific grade level but based on developmental readiness. Pedagogically, Common Core State Standards…

  7. Small bowel Dieulafoy lesions: An uncommon cause of obscure bleeding in cirrhosis.

    PubMed

    Holleran, Grainne; Hussey, Mary; McNamara, Deirdre

    2016-08-25

    Dieulafoy lesions (DLs) are an uncommon cause of gastrointestinal bleeding, accounting for up to 2% of cases overall. They are largely under recognised and difficult to treat. Up to 95% occur in the stomach, and only case reports document their occurrence in the small bowel (SB). Little is known about their pathophysiology, although there have been associations made previously with chronic liver disease, thought to be due to the erosive effects of alcohol on the mucosa overlying the abnormally dilated vessels. We present a case series of 4 patients with a long duration of obscure gastrointestinal bleeding, who were diagnosed with small intestinal DLs and incidentally diagnosed with chronic liver disease. The histories describe the challenges in both diagnosis and treatment of small intestinal DLs. Our case series suggest a previously unreported link between chronic liver disease and SB DLs which may be due to anatomical vasculature changes or a shift in angiogenic factors as a consequence of portal hypertension or liver cirrhosis.

  8. Small bowel Dieulafoy lesions: An uncommon cause of obscure bleeding in cirrhosis

    PubMed Central

    Holleran, Grainne; Hussey, Mary; McNamara, Deirdre

    2016-01-01

    Dieulafoy lesions (DLs) are an uncommon cause of gastrointestinal bleeding, accounting for up to 2% of cases overall. They are largely under recognised and difficult to treat. Up to 95% occur in the stomach, and only case reports document their occurrence in the small bowel (SB). Little is known about their pathophysiology, although there have been associations made previously with chronic liver disease, thought to be due to the erosive effects of alcohol on the mucosa overlying the abnormally dilated vessels. We present a case series of 4 patients with a long duration of obscure gastrointestinal bleeding, who were diagnosed with small intestinal DLs and incidentally diagnosed with chronic liver disease. The histories describe the challenges in both diagnosis and treatment of small intestinal DLs. Our case series suggest a previously unreported link between chronic liver disease and SB DLs which may be due to anatomical vasculature changes or a shift in angiogenic factors as a consequence of portal hypertension or liver cirrhosis.

  9. Aneurysmal Bone Cyst: An Uncommon Secondary Event in Calcaneal Chondroblastoma.

    PubMed

    Barman, Sandip; Diwaker, Preeti; Bansal, Divya; Wadhwa, Neelam; Singh, Gurvinder

    2016-06-01

    Chondroblastoma is an uncommon benign bone tumour, involvement of epiphysis of long bones is typical. Chondroblastoma of the calcaneum is uncommon and its association with secondary aneurysmal bone cyst is even rarer. Only two cases of calcaneal chondroblastoma associated with secondary aneurysmal bone cyst have been reported till date. A 22-year-old male presented to the department of orthopaedics with complains of pain and swelling in the left heel since the last 10 months. On clinico-radiological grounds differentials considered were giant cell tumour of bone and aneurysmal bone cyst. In view of the histopathological findings of bone curettage and results of special stain and immunohistochemical marker, final diagnosis of chondroblastoma with secondary aneurysmal bone cyst, left calcaneum was rendered. Although rare, chondroblastoma should always be considered in osteolytic lesions of calcaneum. The identification of secondary aneurysmal bone cyst component is important as it has higher chances of recurrence than usual chondroblastoma.

  10. Aneurysmal Bone Cyst: An Uncommon Secondary Event in Calcaneal Chondroblastoma

    PubMed Central

    Barman, Sandip; Bansal, Divya; Wadhwa, Neelam; Singh, Gurvinder

    2016-01-01

    Chondroblastoma is an uncommon benign bone tumour, involvement of epiphysis of long bones is typical. Chondroblastoma of the calcaneum is uncommon and its association with secondary aneurysmal bone cyst is even rarer. Only two cases of calcaneal chondroblastoma associated with secondary aneurysmal bone cyst have been reported till date. A 22-year-old male presented to the department of orthopaedics with complains of pain and swelling in the left heel since the last 10 months. On clinico-radiological grounds differentials considered were giant cell tumour of bone and aneurysmal bone cyst. In view of the histopathological findings of bone curettage and results of special stain and immunohistochemical marker, final diagnosis of chondroblastoma with secondary aneurysmal bone cyst, left calcaneum was rendered. Although rare, chondroblastoma should always be considered in osteolytic lesions of calcaneum. The identification of secondary aneurysmal bone cyst component is important as it has higher chances of recurrence than usual chondroblastoma. PMID:27504302

  11. Aneurysmal Bone Cyst: An Uncommon Secondary Event in Calcaneal Chondroblastoma.

    PubMed

    Barman, Sandip; Diwaker, Preeti; Bansal, Divya; Wadhwa, Neelam; Singh, Gurvinder

    2016-06-01

    Chondroblastoma is an uncommon benign bone tumour, involvement of epiphysis of long bones is typical. Chondroblastoma of the calcaneum is uncommon and its association with secondary aneurysmal bone cyst is even rarer. Only two cases of calcaneal chondroblastoma associated with secondary aneurysmal bone cyst have been reported till date. A 22-year-old male presented to the department of orthopaedics with complains of pain and swelling in the left heel since the last 10 months. On clinico-radiological grounds differentials considered were giant cell tumour of bone and aneurysmal bone cyst. In view of the histopathological findings of bone curettage and results of special stain and immunohistochemical marker, final diagnosis of chondroblastoma with secondary aneurysmal bone cyst, left calcaneum was rendered. Although rare, chondroblastoma should always be considered in osteolytic lesions of calcaneum. The identification of secondary aneurysmal bone cyst component is important as it has higher chances of recurrence than usual chondroblastoma. PMID:27504302

  12. Granular cell tumor in a child: An uncommon cutaneous presentation

    PubMed Central

    Daulatabad, Deepashree; Grover, Chander; Tanveer, Nadeem; Bansal, Divya

    2016-01-01

    Granular cell tumors (GCTs) are uncommon soft tissue tumors which present as papulonodular lesions and are often diagnosed histopathologically. These usually develop in adulthood and are considered to be of Schwann cell origin. Most of the lesions are benign, but malignant lesions with poor prognosis are known to occur. We report a case of GCT in a 9-year-old girl presenting as an isolated lesion simulating an acrochordon. The histopathological and immunohistochemical evaluation showing polygonal granular cells positive for S-100 and neuron-specific enolase, and negative for cytokeratin and desmin helped clinch the diagnosis. Complete excision under local anesthesia was done. The atypical clinical morphology and diagnostic histopathology of this uncommon entity are presented to aid the clinician in recognizing it. These tumors are mostly benign, rarely malignant, with the latter category having a poor prognosis. A near-complete excision is recommended in view of the minimal risk of malignant transformation. PMID:27730035

  13. Erythema nodosum leprosum mimicking Sweet's syndrome: an uncommon presentation.

    PubMed

    Mahajan, Vikram K; Abhinav, C; Mehta, Karaninder S; Chauhan, Pushpinder S

    2014-12-01

    Erythema nodosum leprosum (ENL) lesions may uncommonly develop ulceration, necrosis, pustulation or bullae. This 60 year-old female was hospitalised with previously undiagnosed multibacillary (BL) leprosy and Sweet's syndrome-like ENL, a presentation that is rarely reported. In addition to skin lesions simulating Sweet's syndrome, she had anaemia, elevated ESR, and a peripheral leucocytosis with neutrophilia, the laboratory features of Sweet's syndrome. The final diagnosis was made from chronic iridocyclitis, presence of lepra bacilli in slit-skin smears, and histology. The pathogenesis of Sweet's-like ENL remains conjectural. In Sweet's syndrome a complex interplay of various cytokines leading to an abundance of pro- inflammatory cytokines in the target tissues has been postulated to initiate an abnormal tissue response to certain antigens; such findings may eventually explain these uncommon lepra reactions as well. PMID:25675656

  14. Uncommon presentation of choroid plexus papilloma in an infant

    PubMed Central

    Pandey, Sharad; Sharma, Vivek; Singh, Kulwant; Ghosh, Amrita; Gupta, Praveen Kumar

    2016-01-01

    Choroid plexus tumors are relatively rare primary brain tumors that arise from the epithelial differentiated tissue, majority being well-differentiated papillomas. In adults, fourth ventricle and in children, lateral ventricles are the most common site of these tumors. We reported a case of choroid plexus papilloma in the temporal horn of lateral ventricle in a female child who presented with the uncommon symptoms of sudden intraventricular hemorrhage and multiple episodes of seizure without symptoms of raised intracranial tension. PMID:27195037

  15. Tuberculous Dactylitis: An Uncommon Presentation of a Common Infection

    PubMed Central

    Rao, G. Nayantara; Gali, Jayasri Helen; Rao, S. Narasimha

    2016-01-01

    Tuberculous dactylitis is an unusual form of osteoarticular tuberculosis involving the short tubular bones of hands and feet, which is uncommon beyond six years of age. We report the case of a fifteen-year-old adolescent boy who was diagnosed with tuberculous dactylitis, involving contralateral hand and foot. His diagnosis was delayed due to lack of suspicion of this rare entity. The report also examines the diagnostic difficulties faced by clinicians in arriving at an appropriate diagnosis. PMID:26885427

  16. [Peroneal nerve palsy in children: Uncommon diagnosis of a proximal tibiofibular synovial cyst].

    PubMed

    Robin, F; Kuchenbuch, M; Sauleau, P; Marleix, S; Lucas, G; Fraisse, B; Violas, P

    2016-01-01

    Compression of the common peroneal nerve by synovial cysts of the tibiofibular joint is a rare disease. Two macroscopic forms may be encountered: extraneural cysts and intraneural cysts. In a review of the literature, we found only three pediatric cases of common peroneal nerve palsy due to extraneural cysts and about 60 cases reported in adults. Taking advantage of the clinical history of two children operated in our department for this disease, we describe this uncommon entity, which must be diagnosed and treated rapidly. Even in the presence of severe clinical and electrophysiological symptoms, a full clinical recovery is possible, as observed in these two children. However, follow-up is needed because recurrence is possible.

  17. The gallbladder: uncommon gallbladder conditions and unusual presentations of the common gallbladder pathological processes.

    PubMed

    Revzin, Margarita V; Scoutt, Leslie; Smitaman, Edward; Israel, Gary M

    2015-02-01

    This article reviews a spectrum of gallbladder conditions that are either uncommon or represent unusual manifestations of common diseases. These conditions are divided into four major categories: (a) congenital anomalies and normal variants including duplication, ectopia, and lymphangioma; (b) inflammatory processes and stone-related diseases and complications including adenomyomatosis, emphysematous cholecystitis, xanthogranulomatous cholecystitis, gangrenous and hemorrhagic cholecystitis, perforation, gallstone ileus, and Bouveret and Mirizzi syndromes; (c) gallbladder neoplasms including adenocarcinoma with associated porcelain gallbladder, squamous cell carcinoma, lymphoma, melanoma, and neurofibroma. A thorough understanding of the imaging characteristics of each condition can help the radiologist to make a timely and accurate diagnosis, thus avoiding potentially harmful delays in patient management and decreasing morbidity and mortality rates.

  18. Dermatomyositis and myastenia gravis: An uncommon association with therapeutic implications.

    PubMed

    Sangüesa Gómez, Clara; Flores Robles, Bryan Josué; Méndez Perles, Clara; Barbadillo, Carmen; Godoy, Hildegarda; Andréu, José Luis

    2015-01-01

    The association of dermatomyositis with myasthenia gravis (MG) is uncommon, having been reported so far in only 26 cases. We report the case of a 69 year-old man diagnosed with MG two years ago and currently treated with piridostigmyne. The patient developed acute proximal weakness, shoulder pain and elevated creatine-kinase (CK). He also developed generalized facial erythema and Gottron's papules. Laboratory tests showed positive antinuclear and anti-Mi2 antibodies. Further analysis confirmed CK levels above 1000 U/l. The clinical management of the patient and the therapeutic implications derived from the coexistence of both entities are discusssed.

  19. Spindle cell hemangioma: Unusual presentation of an uncommon tumor.

    PubMed

    Gbolahan, Olalere Omoyosola; Fasina, Oluyemi; Adisa, Akinyele Olumuyiwa; Fasola, Olubayo A

    2015-01-01

    Spindle cell hemangioma (SCH) is an uncommon tumor that usually presents as subcutaneous or deep dermal nodule affecting the extremities and is typically <2 cm in size. A few cases have been reported in the head and neck region. To the best of the authors' knowledge, there are no previous reports of SCH occurring in the orbit in the English literature. We, therefore, report the case of a large SCH involving the right orbit of a healthy 9-year-old Nigerian girl. PMID:26980977

  20. Cryptococcal laryngitis: An uncommon presentation of a common pathogen.

    PubMed

    Atiya, Y; Masege, S D

    2015-10-01

    Cryptococcus neoformans is an ubiquitous encapsulated yeast found worldwide, especially in areas with pigeons. The fungus thrives in pigeon droppings and is responsible for primary pulmonary infection, but may disseminate and cause infection of the central nervous system, skin and bone. Most cases are reported in immunocompromised hosts, most commonly those infected with HIV. However, infection has been reported in immunocompetent hosts. Primary infection of the larynx is uncommon, and to date only 12 cases have been reported. We present the first South African report of a young woman with HIV who presented with hoarseness of uncertain aetiology, which was later confirmed to be cryptococcal laryngitis.

  1. Allergy to pizza: an uncommon and multifaceted allergy.

    PubMed

    Cantani, A

    1999-01-01

    The involvement of the Italian "pizza" in the wide and variegate field of food allergy is certainly uncommon. This simple Italian dish consists of a breadlike crust covered by a spiced preparation of cheese and tomatoes and baked. Italian pizza found its origin in Napoli and only in recent years has become a very popular food in the rest of Italy and elsewhere. In the beginning, it was the food of the poor, but was made with natural foods, but nowadays has been enriched by a number of ingredients and flavourings, thus multiplying the risk of allergic reactions.

  2. Radiological features of uncommon aneurysms of the cardiovascular system

    PubMed Central

    Kalisz, Kevin; Rajiah, Prabhakar

    2016-01-01

    Although aortic aneurysms are the most common type encountered clinically, they do not span the entire spectrum of possible aneurysms of the cardiovascular system. As cross sectional imaging techniques with cardiac computed tomography and cardiac magnetic resonance imaging continue to improve and becomes more commonplace, once rare cardiovascular aneurysms are being encountered at higher rates. In this review, a series of uncommon, yet clinically important, cardiovascular aneurysms will be presented with review of epidemiology, clinical presentation and complications, imaging features and relevant differential diagnoses, and aneurysm management. PMID:27247710

  3. Neurobrucellosis and venous sinus thrombosis: an uncommon association.

    PubMed

    Lima, Joana Isabel da Silva; Canelas, Cátia Filipa Gomes; Veiga, Andreia Sofia de Sousa Botelho Trindade; Carvalho, Dina Maria Mota

    2016-01-01

    Brucellosis is a commonly diagnosed zoonosis and neurological involvement is rare. A 30-year-old woman presented with a pulsatile headache that was exacerbated by the Valsalva maneuver and refractory to analgesic therapy. The patient also had nausea, cough, and coryza that evolved over 7 days. The neurological examination was unremarkable. Thrombosis of the lateral and sigmoid sinus and ipsilateral internal jugular vein were diagnosed and anticoagulation therapy was started. Brucella spp was identified in a sample of cerebrospinal fluid (CSF); five months after treatment with rifampicin and doxycycline, CSF was sterile. Cerebral venous thrombosis is a very uncommon sign of brucellosis. PMID:27384841

  4. Struma Ovarii in Pregnancy: An Uncommon Cause of Hyperthyroidism.

    PubMed

    Merza, Zayd; White, Duncan; Khanem, Noor

    2015-08-01

    A 28-year-old woman presented with weight loss and tiredness. Investigations revealed hyperthyroidism. She was commenced on treatment and later became pregnant. Her thyroid levels remained raised, and she later underwent an elective cesarean delivery and ovarian cystectomy. Only a partial cystectomy was achieved, and histopathology examination revealed struma ovarii. An isotope uptake scan ((123)I) including her pelvis revealed low uptake in the thyroid gland and an area of high uptake in her pelvis. The cyst was subsequently removed, and within days, her thyroid hormone levels dropped. This case illustrates the importance of considering uncommon causes of hyperthyroidism. PMID:26018691

  5. European and German food legislation facing uncommon foodstuffs.

    PubMed

    Grabowski, Nils Th; Klein, Günter; López, Antonio Martínez

    2013-01-01

    In Europe, uncommon foodstuff (UFS, i.e., traditional foods from specific European regions and uncommon ethnic foods from non-EU countries) have been contributing to a diversification of the food supply. E-commerce and specialized retail shops are the main sources for UFS. This article discusses the legal bases for UFS introduction and evaluation. By means of 35 representative UFS, this article analyses the possibilities of trade and veterinary inspection of these products in Germany, comparing European Union and national food legislation with the many idiosyncrasies the UFS presents. Conservatory legislation bans the trade with endangered species (primates, cetaceans, songbirds), but for many other species, this is a complex matter that may ban only subpopulations from trade. Although introduction of legal UFS is regulated (yet complicated), the lack of appropriate definitions, intra-European trade harmonization, and of sufficient scientific knowledge hampers a satisfactory evaluation of many UFSs, for example, reptile meat or terrestrial insects. In these cases, official inspection would only be very basic. PMID:23768143

  6. European and German food legislation facing uncommon foodstuffs.

    PubMed

    Grabowski, Nils Th; Klein, Günter; López, Antonio Martínez

    2013-01-01

    In Europe, uncommon foodstuff (UFS, i.e., traditional foods from specific European regions and uncommon ethnic foods from non-EU countries) have been contributing to a diversification of the food supply. E-commerce and specialized retail shops are the main sources for UFS. This article discusses the legal bases for UFS introduction and evaluation. By means of 35 representative UFS, this article analyses the possibilities of trade and veterinary inspection of these products in Germany, comparing European Union and national food legislation with the many idiosyncrasies the UFS presents. Conservatory legislation bans the trade with endangered species (primates, cetaceans, songbirds), but for many other species, this is a complex matter that may ban only subpopulations from trade. Although introduction of legal UFS is regulated (yet complicated), the lack of appropriate definitions, intra-European trade harmonization, and of sufficient scientific knowledge hampers a satisfactory evaluation of many UFSs, for example, reptile meat or terrestrial insects. In these cases, official inspection would only be very basic.

  7. Ileal perforation associated with dengue in the paediatric age group: an uncommon presentation.

    PubMed

    Kumar, Piyush; Gupta, Archika; Pandey, Anand; Kureel, Shiv Narain

    2016-01-01

    Acute abdomen in dengue, a common arboviral disease found in tropical and subtropical countries, is not uncommon and can occasionally present as acute surgical emergency requiring urgent surgical intervention. The spectrum of acute abdomen presenting as surgical emergency in dengue infection that raises suspicion of an abdominal catastrophe includes acute appendicitis, acute cholecystitis, appendicitis and, rarely, intestinal perforation. All cases of intestinal perforation including appendicular, gastric and jejunal perforation have been reported in adult patients during the course of dengue infection. However, intestinal perforation during the course of dengue infection in the paediatric age group has never been reported. We report two cases of ileal perforation in children occurring during the course of dengue infection. PMID:27485879

  8. An Uncommon Case of Solitary Peripheral Osteoma in the Mandible

    PubMed Central

    Agrawal, Rohit; Agrawal, Shipra; Bhargava, Shitij; Motlani, Mahesh; Agrawal, Rahul

    2015-01-01

    Osteoma is a benign osteogenic lesion which is composed of well differentiated mature compact and/or cancellous bone that proliferates continuously. Its prevalence is 4%. Its pathogenesis is still controversial. Solitary peripheral osteoma of craniofacial region is a rare finding. We report a case of 30-year-old female having solitary peripheral osteoma present on the lingual cortex of the left posterior mandible which was initially asymptomatic but now is causing discomfort while chewing and not associated with Gardner's syndrome. We also laid emphasis on its clinical, differential diagnosis, radiological, surgical, and histopathological features. The aim of this paper is to present an uncommon case of solitary peripheral osteoma in the mandible along with analysis of literature for peripheral osteomas of jaws and to contribute to the knowledge concerning the pathogenesis, differential diagnosis, and management of these lesions. PMID:26788378

  9. An Uncommon Case of Solitary Peripheral Osteoma in the Mandible.

    PubMed

    Agrawal, Rohit; Agrawal, Shipra; Bhargava, Shitij; Motlani, Mahesh; Agrawal, Rahul

    2015-01-01

    Osteoma is a benign osteogenic lesion which is composed of well differentiated mature compact and/or cancellous bone that proliferates continuously. Its prevalence is 4%. Its pathogenesis is still controversial. Solitary peripheral osteoma of craniofacial region is a rare finding. We report a case of 30-year-old female having solitary peripheral osteoma present on the lingual cortex of the left posterior mandible which was initially asymptomatic but now is causing discomfort while chewing and not associated with Gardner's syndrome. We also laid emphasis on its clinical, differential diagnosis, radiological, surgical, and histopathological features. The aim of this paper is to present an uncommon case of solitary peripheral osteoma in the mandible along with analysis of literature for peripheral osteomas of jaws and to contribute to the knowledge concerning the pathogenesis, differential diagnosis, and management of these lesions. PMID:26788378

  10. Acute scrotal pain: an uncommon manifestation of renal vein thrombosis.

    PubMed

    Jou, Yeong-Chin; Jong, Ing-Chin; Hsieh, Ying-Chen; Kang, Chun-Hsiung

    2014-03-01

    The clinical manifestation of renal vein thrombosis varies with the speed and degree of venous occlusion. Such patients may be asymptomatic, have minor nonspecific symptoms such as nausea or weakness, or have more specific symptoms such as upper abdominal pain, flank pain, or hematuria. Acute scrotal pain is a very uncommon clinical expression of renal vein thrombosis. Here, we report a case of membranous glomerulonephritis-induced renal vein thrombosis presented with the symptom of acute scrotal pain caused by thrombosis-induced varicocele. This case report suggests that renal vein thrombosis should be considered in the diagnosis of acute scrotal pain; it also emphasizes that an investigation of retroperitoneum should be performed for adult patients with the sudden onset of varicocele.

  11. Giant Esophageal Lipoma as an Uncommon Cause of Diverticula

    PubMed Central

    Yekeler, Erdal; Yazicioglu, Alkin; Subasi, Mahmut; Boztepe, Hacer

    2016-01-01

    Esophageal lipoma is an uncommon benign tumor of the esophagus and accounts for only 0.4% of all benign neoplasms of the gastrointestinal system. The majority of these are located in the cervical part; only very few are located in the lower third of the esophagus. We discuss the case of a 37-year-old female who presented with dysphagia and an esophageal lipoma located in the lower third of the esophagus. The patient underwent right mini-thoracotomy and enucleation of lipoma. Histopathologic examination revealed adipose tissue with a collection of matured adipose tissue. We present the case because of the atypical localization of an esophageal lipoma and development of a diverticulum, which was caused by the lipoma and required an additional surgical procedure. PMID:27721731

  12. Concurrent Occurrence of Uterovaginal and Rectal Prolapse: An Uncommon Presentation

    PubMed Central

    Umeh, UA; Ugwu, EO; Obi, SN; Nnagbo, JE

    2015-01-01

    Concomitant uterovaginal and rectal prolapse is an uncommon occurrence. Where laparoscopic equipment and skills are lacking, sacrohysteropexy with synthetic mesh and rectopexy can be accomplished by laparotomy, especially in women who desire to retain their uterus for either biological or psychological reasons. A 40-year-old primipara with a history of concomitant mass protruding from both her vagina and anus following a spontaneous unsupervised delivery at home. Following pelvic examination, a diagnosis of uterovaginal and rectal prolapse was made. In view of her parity and desire to retain her reproductive function, she was offered abdominal sacrohysteropexy with synthetic mesh and rectopexy with satisfactory postoperative recovery. In resource-limited settings with concomitant uterine and rectal prolapse, open abdominal sacrohysteropexy with synthetic mesh and rectopexy is an effective and safe alternative to Manchester operation in the absence of laparoscopic equipment and skills. PMID:26500795

  13. An Uncommon Case of Solitary Peripheral Osteoma in the Mandible.

    PubMed

    Agrawal, Rohit; Agrawal, Shipra; Bhargava, Shitij; Motlani, Mahesh; Agrawal, Rahul

    2015-01-01

    Osteoma is a benign osteogenic lesion which is composed of well differentiated mature compact and/or cancellous bone that proliferates continuously. Its prevalence is 4%. Its pathogenesis is still controversial. Solitary peripheral osteoma of craniofacial region is a rare finding. We report a case of 30-year-old female having solitary peripheral osteoma present on the lingual cortex of the left posterior mandible which was initially asymptomatic but now is causing discomfort while chewing and not associated with Gardner's syndrome. We also laid emphasis on its clinical, differential diagnosis, radiological, surgical, and histopathological features. The aim of this paper is to present an uncommon case of solitary peripheral osteoma in the mandible along with analysis of literature for peripheral osteomas of jaws and to contribute to the knowledge concerning the pathogenesis, differential diagnosis, and management of these lesions.

  14. Small bowel Dieulafoy lesions: An uncommon cause of obscure bleeding in cirrhosis

    PubMed Central

    Holleran, Grainne; Hussey, Mary; McNamara, Deirdre

    2016-01-01

    Dieulafoy lesions (DLs) are an uncommon cause of gastrointestinal bleeding, accounting for up to 2% of cases overall. They are largely under recognised and difficult to treat. Up to 95% occur in the stomach, and only case reports document their occurrence in the small bowel (SB). Little is known about their pathophysiology, although there have been associations made previously with chronic liver disease, thought to be due to the erosive effects of alcohol on the mucosa overlying the abnormally dilated vessels. We present a case series of 4 patients with a long duration of obscure gastrointestinal bleeding, who were diagnosed with small intestinal DLs and incidentally diagnosed with chronic liver disease. The histories describe the challenges in both diagnosis and treatment of small intestinal DLs. Our case series suggest a previously unreported link between chronic liver disease and SB DLs which may be due to anatomical vasculature changes or a shift in angiogenic factors as a consequence of portal hypertension or liver cirrhosis. PMID:27621769

  15. Small bowel Dieulafoy lesions: An uncommon cause of obscure bleeding in cirrhosis.

    PubMed

    Holleran, Grainne; Hussey, Mary; McNamara, Deirdre

    2016-08-25

    Dieulafoy lesions (DLs) are an uncommon cause of gastrointestinal bleeding, accounting for up to 2% of cases overall. They are largely under recognised and difficult to treat. Up to 95% occur in the stomach, and only case reports document their occurrence in the small bowel (SB). Little is known about their pathophysiology, although there have been associations made previously with chronic liver disease, thought to be due to the erosive effects of alcohol on the mucosa overlying the abnormally dilated vessels. We present a case series of 4 patients with a long duration of obscure gastrointestinal bleeding, who were diagnosed with small intestinal DLs and incidentally diagnosed with chronic liver disease. The histories describe the challenges in both diagnosis and treatment of small intestinal DLs. Our case series suggest a previously unreported link between chronic liver disease and SB DLs which may be due to anatomical vasculature changes or a shift in angiogenic factors as a consequence of portal hypertension or liver cirrhosis. PMID:27621769

  16. An uncommon cause of chest pain - penetrating atherosclerotic aortic ulcer.

    PubMed

    Kyaw, Htoo; Sadiq, Sanah; Chowdhury, Arnab; Gholamrezaee, Rashin; Yoe, Linus

    2016-01-01

    Chest pain is a very common symptom and can be of cardiac or non-cardiac origin. It accounts for approximately 5.5 million annual emergency room visits in the United States, according to 2011 CDC data. Penetrating atherosclerotic aortic ulcer (PAU), an uncommon condition, is also a potential cause of chest pain. We here report the case of a 65-year-old woman who presented with atypical chest and back pain. The pain persisted for 4 weeks necessitating two emergency room visits. Initial tests were non-significant including cardiac troponins, an electrocardiogram (EKG), and a chest X-ray on her first visit. Upon her second visit, she underwent a computed tomography angiogram of chest with contrast which revealed a PAU with an intramural hematoma in descending aorta. The PAU was finally diagnosed with an exclusion of other chest pain causes. She was treated non-surgically with a blood pressure control strategy and pain management. After a 2-month period of smoking cessation and following the achievement of a controlled blood pressure, she felt well without chest pain. PMID:27406453

  17. Common and Uncommon Presentation of Fluid within the Scrotal Spaces.

    PubMed

    Patil, V; Shetty, S M C; Das, S

    2015-11-01

    Ultrasonography(US) of the scrotum has been demonstrated to be useful in the diagnosis of fluid in the scrotal sac. Grayscale US characterizes the lesions as testicular or extratesticular and, with color Doppler, power Doppler and pulse Doppler, any perfusion can also be assessed. Cystic or encapsulated fluid collections are relatively common benign lesions that usually present as palpable testicular lumps. Most cysts arise in the epidydimis, but all anatomical structures of the scrotum can be the site of their origin. US may suggest a specific diagnosis for a wide variety of intrascrotal cystic and fluid lesions and appropriately guide therapeutic options. The paper reviews the current knowledge of ultrasound in conditions with fluid in the testis and scrotum. The review presents the applications of ultrasonography in the diagnosis of hydrocele, testicular cysts, epididymal cysts, spermatoceles, tubular ectasia, hernia and hematoceles. The aim of this paper is to provide a pictorial review of the common and uncommon presentation of fluid within the scrotal spaces. PMID:27689151

  18. Common and Uncommon Presentation of Fluid within the Scrotal Spaces

    PubMed Central

    Patil, V.; Shetty, S. M. C.; Das, S.

    2015-01-01

    Ultrasonography(US) of the scrotum has been demonstrated to be useful in the diagnosis of fluid in the scrotal sac. Grayscale US characterizes the lesions as testicular or extratesticular and, with color Doppler, power Doppler and pulse Doppler, any perfusion can also be assessed. Cystic or encapsulated fluid collections are relatively common benign lesions that usually present as palpable testicular lumps. Most cysts arise in the epidydimis, but all anatomical structures of the scrotum can be the site of their origin. US may suggest a specific diagnosis for a wide variety of intrascrotal cystic and fluid lesions and appropriately guide therapeutic options. The paper reviews the current knowledge of ultrasound in conditions with fluid in the testis and scrotum. The review presents the applications of ultrasonography in the diagnosis of hydrocele, testicular cysts, epididymal cysts, spermatoceles, tubular ectasia, hernia and hematoceles. The aim of this paper is to provide a pictorial review of the common and uncommon presentation of fluid within the scrotal spaces. PMID:27689151

  19. Common and Uncommon Presentation of Fluid within the Scrotal Spaces

    PubMed Central

    Patil, V.; Shetty, S. M. C.; Das, S.

    2015-01-01

    Ultrasonography(US) of the scrotum has been demonstrated to be useful in the diagnosis of fluid in the scrotal sac. Grayscale US characterizes the lesions as testicular or extratesticular and, with color Doppler, power Doppler and pulse Doppler, any perfusion can also be assessed. Cystic or encapsulated fluid collections are relatively common benign lesions that usually present as palpable testicular lumps. Most cysts arise in the epidydimis, but all anatomical structures of the scrotum can be the site of their origin. US may suggest a specific diagnosis for a wide variety of intrascrotal cystic and fluid lesions and appropriately guide therapeutic options. The paper reviews the current knowledge of ultrasound in conditions with fluid in the testis and scrotum. The review presents the applications of ultrasonography in the diagnosis of hydrocele, testicular cysts, epididymal cysts, spermatoceles, tubular ectasia, hernia and hematoceles. The aim of this paper is to provide a pictorial review of the common and uncommon presentation of fluid within the scrotal spaces.

  20. TYPICAL USES OF CERTAIN COMMON AND UNCOMMON PLANTS

    PubMed Central

    Hota, N. P.; Padhi, M.M.

    2003-01-01

    The beginning of medicinal uses of plants dates back to the scribing period of Vedas in India. In ancient days, such uses came into vogue due to accidental experimentation or observation which subsequently gave rise to practice either by a qualified physician or by an astrologer or by lay men, called nostrum or folk-lore. All these have their own distinct manner of use though they are very often intermingled. Apart from classical uses as mentioned in Ayurvedic, Unani or Sidha therapeutic treatises, material medica, texts on / pharmacy etc.; the new dimension of collecting additional information started in early part of 20th century where on several botanists contributed a lot for exploration of the same. Since Orissa is a treasure of folk-core claims and besides qualified practitioners, certain lay men especially in rural area and tribal area, saints and priests at different places also possess knowledge on certain typical uses of several plants, there is a larger scope to highlight the same for future study from difference angles. In this paper an attempt has been made to highlight certain newer information's on certain common and uncommon plants like Lygodium flexuosum, Vitex peduncularis, Barleria lupulina, Leptadenia reticulate, Selaginella indica, etc., collected from different parts of Orissa. PMID:22557106

  1. Dislocation of temporo-mandibular joint - an uncommon circumstance of occurrence: vaginal delivery.

    PubMed

    El Bouazzaoui, Abderrahim; Labib, Smael; Derkaoui, Ali; Adnane Berdai, Mohammed; Bendadi, Azzeddine; Harandou, Mustapha

    2010-06-25

    Dislocation of temporo-mandibular joint (TMJ) is an infrequent disease but still spectacular. This disease consists of a permanent, to some extent complete disruption of the temporo-mandibular joint. These dislocations often occur in a context of yawning, and less frequently after a burst of laughing or relatively mild facial trauma (slap, punch on the chin). We report a case of TMJ occurring in an uncommon circumstance: vaginal delivery. A woman aged 24-years with no special past medical history; primipara was admitted in the Department of Maternity of the University Hospital Hassan II of Fez for an imminent delivery of a twin pregnancy. Ten minutes after admission, the patient delivered vaginally with episiotomy. She gave birth to twins weighing 2800 g and 2400 g. During labour, and due to efforts of crying, the patient developed a sudden and immediate loss of function of the temporo-mandibular joint, with difficulty of speaking, the mouth permanently opened and with the chin lowered and thrown forward. The examination found an empty glenoid fossa of the temporo-mandibular joint in both sides. The diagnosis of dislocation of the TMJ was established. A CT scan of facial bones was done, objectifying a bilateral dislocation of TMJ. The reduction of this dislocation was performed in the operating room under sedation.

  2. Common Symptoms from an Uncommon Infection: Gastrointestinal Anisakiasis

    PubMed Central

    Muwanwella, Niroshan; Chandran, Sujievvan; Kandel, Gabor

    2016-01-01

    Clinicians can be forgiven for thinking of anisakiasis as a rare condition low in the differential diagnosis of abdominal pain. Gastrointestinal anisakiasis is a zoonotic parasitic disease caused by consumption of raw or undercooked seafood infected with nematodes of the genus Anisakis. Even though the reported cases indicate that this is a rare disease, the true incidence of the disease could be potentially higher than what is reported in the literature as cases can go undiagnosed. Diagnosis and treatment of gastric anisakiasis are made by a compatible dietary history, direct visualization, and removal of the larvae via gastroscopy. Serologic testing and imaging studies are useful in the diagnosis of intestinal anisakiasis and conservative management should be considered. This disease may mimic other diseases and lead to unnecessary surgery. This emphasizes the importance of suspecting gastrointestinal anisakiasis by history taking and by other diagnostic modalities. PMID:27800471

  3. Cytodiagnosis of Epidermoid Cyst of the Upper Lip: A Common Lesion in an Uncommon Site

    PubMed Central

    Phukan, Jyoti Prakash; Sinha, Anuradha; Pal, Subrata; Jalan, Shilpa

    2014-01-01

    Epidermoid cyst and dermoid cysts are developmental pathologies thought to derive from aberrant ectodermal tissue. They are uncommon in the head and neck region. Rarely, they can be found in the oral cavity and buccal mucosa. However, epidermoid cyst is extremely uncommon in the upper lip and is rarely reported. In this study, we report an uncommon case of epidermoid cyst occurring in the upper lip diagnosed by fine-needle aspiration cytology (FNAC). We present this case because of its extremely rare site of presentation and also to highlight the role of FNAC to in the pre-operative diagnosis of this benign lesion. PMID:24696565

  4. Acromegaly presenting as hirsuitism: Uncommon sinister aetiology of a common clinical sign

    PubMed Central

    Jain, Rajesh; Dutta, Deep; Shivaprasad, KS; Maisnam, Indira; Ghosh, Sujoy; Mukhopadhyay, Satinath; Chowdhury, Subhankar

    2012-01-01

    Hirsuitism though not uncommon (24%), is not considered to be a prominent feature of acromegaly because of its lack of specificity and occurrence. Hirsuitism is very common in women of reproductive age (5-7%) and has been classically associated with polycystic ovarian syndrome (PCOS). Twenty-eight year lady with 3 year duration of hirsuitism (Modified Ferriman Gallwey score-24/36), features of insulin resistance (acanthosis), subtle features of acromegaloidism (woody nose and bulbous lips) was diagnosed to have acromegaly in view of elevated IGF-1 (1344 ng/ml; normal: 116-358 ng/ml), basal (45.1 ng/ml) and post glucose growth hormone (39.94 ng/ml) and MRI brain showing pituitary macroadenoma. Very high serum androstenedione (>10 ng/ml; normal 0.5-3.5 ng/ml), elevated testosterone (0.91 ng/ml, normal <0.8) and normal dehydroepiandrosterone sulphate (DHEAS) (284 mcg/dl, normal 35-430 mcg/dl) along with polycystic ovaries on ultrasonography lead to diagnosis of associated PCOS. She was also diagnosed to have diabetes. This case presentation intends to highlight that hirsuitism may rarely be the only prominent feature of acromegaly. A lookout for subtle features of acromegaly in all patients with hirsuitism and going for biochemical evaluation (even at the risk of investigating many patients of insulin resistance and acromegloidism) may help us pick up more patients of acromegaly at an earlier stage thus help in reducing disease morbidity. PMID:23565405

  5. Severe neurologic impairment and uncommon magnetic resonance imaging findings after carbon monoxide poisoning.

    PubMed

    Hoffmann, Clément; Bouix, Julien; Poyat, Chrystelle; Alhanati, Laure; Tourtier, Jean-Pierre; Falzone, Elisabeth

    2016-01-01

    Carbon monoxide poisoning is the most common cause of fatal poisoning worldwide and can lead to severe brain damages. We report a delayed encephalopathy after a severe carbon monoxide poisoning with uncommon magnetic resonance imaging findings. PMID:26078257

  6. Severe neurologic impairment and uncommon magnetic resonance imaging findings after carbon monoxide poisoning.

    PubMed

    Hoffmann, Clément; Bouix, Julien; Poyat, Chrystelle; Alhanati, Laure; Tourtier, Jean-Pierre; Falzone, Elisabeth

    2016-01-01

    Carbon monoxide poisoning is the most common cause of fatal poisoning worldwide and can lead to severe brain damages. We report a delayed encephalopathy after a severe carbon monoxide poisoning with uncommon magnetic resonance imaging findings.

  7. Uncommon non-Hodgkin lymphomas of childhood: pathological diagnosis, clinical features and treatment approaches.

    PubMed

    Sandlund, John T; Perkins, Sherrie L

    2015-06-01

    We provide a review of the pathological and clinical features for uncommon B-cell and T-cell lymphomas of childhood with a specific focus on advances in treatment approaches and outcomes. There is clearly a need for prospective investigation of both the clinical and biological features of the uncommon non-Hodgkin lymphoma subtypes in childhood. These results should lead to more uniform and more effective treatment approaches. PMID:25851546

  8. [Mondor's disease: study of two topographic localizations].

    PubMed

    Ortega Calvo, M; Villadiego Sánchez, J M

    2003-06-01

    Superficial thoracic wall and dorsal vein of the penis phlebitis are uncommon diseases. Both are known as Mondor's disease. Two cases have been diagnosed in a short period of time in a Southern. Spain primary care clinics. PMID:12848602

  9. Genomic Duplication of PTPN11 is an Uncommon Cause of Noonan Syndrome

    PubMed Central

    Graham, John M.; Kramer, Nancy; Bejjani, Bassem A.; Thiel, Christian T.; Carta, Claudio; Neri, Giovanni; Tartaglia, Marco; Zenker, Martin

    2009-01-01

    Noonan syndrome (NS) is a genetically heterogeneous disorder caused most commonly by activating mutations in PTPN11. We report a patient with hypotonia, developmental delay and clinical features suggestive of NS. High-resolution chromosome analysis was normal, and sequence analyses of PTPN11, SOS1, KRAS, BRAF, RAF1, MEK, and MEK2 were also normal. Array CGH revealed a single copy gain of 9 BAC clones at 12q24.11q24.21 (8.98 Mb in size), which encompassed the PTPN11 locus at 12q24.13 and was confirmed by FISH analysis. Shchelochkov et al., [2008] reported a similar case and speculated that such duplications might account for 15–30% of NS cases with no detectable mutation in NS genes. We screened more than 250 NS cases without mutation in known NS disease-causing genes by quantitative PCR, and none of these studies produced results in the duplicated range. We also explored the possibility that de novo changes affecting the untranslated region (UTR) of the PTPN11 transcript might represent an alternative event involved in SHP2 enhanced expression. DHPLC analysis and direct sequencing of the entire 3' UTR in 36 NS patients without mutation in known genes did not show any disease-associated variant. These findings indicate that duplications of PTPN11 represent an uncommon cause of NS, and functionally relevant variations within the 3'UTR of the gene do not appear to play a major role in NS. However, recurrent observations of NS in individuals with duplications involving the PTPN11 locus suggest that increased dosage of SHP2 may have dysregulating effects on intracellular signaling. PMID:19760651

  10. Intraspinal hydatidosis with retroperitoneal extension: an uncommon location.

    PubMed

    Sarma, Yashdeep; Nair, Rajesh; Siddharth, Sankalp; Kumar, Vinod; Upadhyaya, Sunil; Shetty, Arjun

    2014-01-01

    Hydatidosis is a ubiquitous disease that is endemic in India. It most commonly involves the liver (75%) and lungs (15%) with only 10% occurring in the rest of the body. Primary hydatid cyst in the spinal canal is extremely rare. Intraspinal hydatid accounts for 0.5-1% of the cases and carries a poor prognosis. It presents as a diagnostic and therapeutic challenge. We present one such case of a 64-year-old man with associated radiculopathy and myelomalcia.

  11. Death in pediatric Cushing syndrome is uncommon but still occurs

    PubMed Central

    Gkourogianni, Alexandra; Lodish, Maya B.; Zilbermint, Mihail; Lyssikatos, Charalampos; Belyavskaya, Elena; Keil, Margaret F.; Stratakis, Constantine A.

    2014-01-01

    Cushing syndrome (CS) in children is rare. Delayed diagnosis and treatment of CS may be associated with increased morbidity and, unfortunately, mortality. We performed a retrospective review of all patients with CS under the age of 18 referred to the NIH from 1998 to 2013 in order to describe deceased patients among cases of pediatric CS referred to the National Institutes of Health (NIH). The deaths of 4 children (3 females and 1 male), aged 7.5–15.5 years (mean age 11.2 years) with length of disease 2–4 years were recorded among 160 (2.5%) children seen at, or referred to the NIH over the last 15 years. All died at different institutions, prior to coming to the NIH (two of them) or after leaving NIH (two of them). Presenting symptoms included increasing weight and decreasing height gain, facial plethora, dorsocervical fat pad (webbed neck), striae, headache, vision disturbances and depression and other mood or behavior changes; there were no differences between how these patients presented and the others in our cohort. The causes of CS in the deceased patients were also not different, in fact, they spanned the entire spectrum of CS: pituitary disease (on of them), ectopic corticotropin production (one of them), and primary adrenal hyperplasia (1). In one patient, the cause of CS could not be verified. Three died of sepsis and one due to residual disease and complications of the primary tumor. Conclusions Despite advances in early diagnosis and treatment of pediatric CS, a 2.5% mortality rate was identified in a large cohort of patients with this condition referred to an experienced, tertiary care referral center (although these deaths occurred elsewhere). Pediatricians need to recognize the possibility of death, primarily due to sepsis, in a patient with pediatric CS and act accordingly. PMID:25241829

  12. Chronic Cough and Eosinophilic Esophagitis: An Uncommon Association

    PubMed Central

    Orizio, Paolo; Cinquini, Massimo; Minetti, Stefano; Alberti, Daniele; Paolo, Camilla Di; Villanacci, Vincenzo; Torri, Fabio; Crispino, Paola; Facchetti, Susanna; Rizzini, Fabio Lodi; Bassotti, Gabrio; Tosoni, Cinzia

    2011-01-01

    An increasing number of children, usually with gastrointestinal symptoms, is diagnosed with eosinophilic esophagitis (EE), and a particular subset of these patients complains of airway manifestations. We present the case of a 2-year-old child with chronic dry cough in whom EE was found after a first diagnosis of gastroesophageal reflux disease (GERD) due to pathological 24-hour esophageal pH monitoring. Traditional allergologic tests were negative, while patch tests were diagnostic for cow's milk allergy. We discuss the intriguing relationship between GERD and EE and the use of patch test for the allergologic screening of patients. PMID:21960955

  13. Intraspinal hydatidosis with retroperitoneal extension: an uncommon location

    PubMed Central

    Sarma, Yashdeep; Nair, Rajesh; Siddharth, Sankalp; Kumar, Vinod; Upadhyaya, Sunil; Shetty, Arjun

    2014-01-01

    Hydatidosis is a ubiquitous disease that is endemic in India. It most commonly involves the liver (75%) and lungs (15%) with only 10% occuring in the rest of the body. Primary hydatid cyst in the spinal canal is extremely rare. Intraspinal hydatid accounts for 0.5–1% of the cases and carries a poor prognosis. It presents as a diagnostic and therapeutic challenge. We present one such case of a 64-year-old man with associated radiculopathy and myelomalcia. PMID:25199198

  14. Primary anorectal malignant melanoma: an uncommon anorectal pathology.

    PubMed

    Juanmartiñena Fernández, José Francisco; Fernández-Urien, Ignacio; Córdoba, Alicia

    2016-09-01

    Anorectal malignant melanoma (AMM) is most common primary melanoma of gastrointestinal tract, accounting for 0.05% and 1% of all colorectal and anal cancers. We reported an 85 year-old woman with no significant past medical history who presented two-month period of rectal bleeding, abdominal pain, tenesmus and 2kg weight-loss. Laboratory markers were unremarkable, although rectal examination revealed two small haemorrhoids and a firm, non-obstructing mass in the lower rectum. Colonoscopy confirmed presence of an ulcerated pigmented neoplasm arising at dental line [A,B]. No distant metastases were found on computed tomography [C] although presented metastatic regional lymph nodes on pelvic MRI [D]. Therefore, abdominoperineal resection was performed, confirming loco-regional disease. Histopathology showed malignant melanoma with positive stains in immunohistochemistry for protein S100, HMB-45 and Melan-A [E,F,G,H] and stained negative for c-Kit.

  15. Endoscopic Submucosal Dissection for Early Gastric Cancers with Uncommon Histology

    PubMed Central

    Kim, Gwang Ha

    2016-01-01

    Endoscopic submucosal dissection (ESD) enables en bloc curative resection of early gastric cancers (EGCs) with a negligible risk of lymph node metastasis (LNM). Although ESD for EGCs with absolute and expanded indications is safe, the results differ between EGCs with specialized and common histologies. EGC with papillary adenocarcinoma is a differentiated-type adenocarcinoma. At present, it is treated with ESD according to the same criteria as other differentiated-type adenocarcinomas. The LNM rate under the current indication criteria is high, and over half of the patients who undergo ESD as a primary treatment for EGC with papillary adenocarcinoma achieve an out-of-ESD result. Gastric carcinoma with lymphoid stroma in EGC has a low LNM rate and a favorable outcome, despite deep submucosal invasion. Patients with this gastric cancer subtype may be good candidates for ESD, even with deep submucosal invasion. Large-scale prospective multi-center studies with longer follow-up periods are needed to set proper ESD criteria for these tumors. Clinicians should be aware of these disease entities and ESD should be more carefully considered for EGCs with papillary adenocarcinoma and gastric carcinoma with lymphoid stroma. PMID:27744663

  16. Cayler Cardio-Facial Syndrome: An Uncommon Condition in Newborns

    PubMed Central

    Pawar, Sunil Jayaram; Sharma, Deepak Kumar; Srilakshmi, Sela; Reddy Chejeti, Suguna; Pandita, Aakash

    2015-01-01

    Introduction: Cayler cardio-facial syndrome is a rare syndrome associated with asymmetric crying faces with congenital heart disease. We report a newborn that was diagnosed as case of Cayler Cardio-facial syndrome based on clinical features and was confirmed with FISH analysis. Case Presentation: A term male baby, born to non-consanguineous couple through normal vaginal delivery was diagnosed to have asymmetric crying faces with deviation of angle of mouth to left side at the time of birth. The baby had normal faces while sleeping or silent. Mother was known case of hypothyroidism and was on treatment. Baby was diagnosed as case of Cayler Cardio-facial Syndrome and was investigated with echocardiogram, brain ultrasound, total body X-ray examination, X-ray of cervico-thoracic vertebral column and fundus examination. Echocardiogram showed muscular VSD, brain ultrasound was normal and fundus examination showed tortuous retinal vessels. Whole body X-ray and lateral X-ray of cervico-thoracic vertebral column were not suggestive of any skeletal abnormalities. The other associated malformation was right ear microtia. Baby FISH karyotype analysis showed deletion of 22q11.2 deletion. Baby was discharged and now on follow-up. Conclusions: Cayler syndrome is a rare syndrome which must be suspected if a baby has asymmetrical cry pattern and normal facies when baby sleeps. Patient must be evaluated with echocardiography to find out associated cardiac malformations. These infants should undergo FISH analysis for 22q11.2 deletion syndrome. PMID:26196008

  17. Solitary Plasmacytoma of the Mandible: An Uncommon Entity

    PubMed Central

    Dayisoylu, Ezher Hamza; Ceneli, Ozcan; Coskunoglu, Esra Zeypep

    2016-01-01

    Introduction Plasma cell dyscrasias are characterized by a monoclonal neoplastic proliferation of plasma cells. Solitary bone plasmacytoma (SBP) is a local form of the disease with the vertebrae and long bones being the most frequently encountered sites. Its prevalence in the maxillofacial area is extremely rare. Case Presentation A 70-year-old Caucasian male patient was referred for the extraction of his mobile premolar tooth with a poorly-defined radiolucent lesion. Histopathological analysis revealed an SBP and no distant lesion or serum M protein was noted on radiological and hematological examinations. The patient was under follow-up care with no recurrence at 2 years of follow up. Conclusions Diagnosis of an SBP is based on local radiological and neurological symptoms and similar systemic manifestations of multiple myeloma that are also distinctive for SBP. Skeletal radiological analysis including CT and PET-CT, bone marrow biopsy, and serum protein electrophoresis are essential for confirmation of the diagnosis. Although surgery, chemotherapy, and radiation, or a combination of these modalities, have been successfully used in the treatment of SBP, it should be managed in relation to its possible long-term evolution.

  18. Common Presentation with Uncommon Diagnosis: Multifocal Epithelioid Hemangioendothelioma.

    PubMed

    Kundu, Susmita; Misra, Swapnendu; Biswas, Debabani; Mitra, Ritabrata; Naskar, Bidisha Ghosh

    2015-11-01

    A young female patient presenting with recurrent hemoptysis, neck swelling, and mediastinal mass mimicking lymphadenopathy was admitted to the Institute of Post Graduate Medical Education and Research and SSKM hospital, Kolkata, India. Clinical features, radiological studies, fibre optic bronchoscopy, and fine needle aspiration cytology from the neck swelling created a diagnostic dilemma until surgical resection and immunohistochemistry reports confirmed the diagnosis of multifocal epithelioid hemangioendothelioma, a rare vascular tumor with intermediate malignancy potential. Because it is a slow-progressing disease and due to the non-availability of standard chemotherapy, the patient, and her legal guardian, opted for palliative care only. She was asymptomatic for four years but again presented with hemoptysis, reappearance of the neck swelling on the same side, and a mediastinal mass compressing the superior vena cava and right pulmonary artery. This report describes the diagnostic problems and therapeutic challenges in the management of this rare tumor over a four-year follow-up period. The clinical course emphasizes the highly unpredictable nature of this tumor. PMID:26674363

  19. Uncommon Applications of Deep Brain Stimulation in Hyperkinetic Movement Disorders

    PubMed Central

    Smith, Kara M.; Spindler, Meredith A.

    2015-01-01

    Background In addition to the established indications of tremor and dystonia, deep brain stimulation (DBS) has been utilized less commonly for several hyperkinetic movement disorders, including medication-refractory myoclonus, ballism, chorea, and Gilles de la Tourette (GTS) and tardive syndromes. Given the lack of adequate controlled trials, it is difficult to translate published reports into clinical use. We summarize the literature, draw conclusions regarding efficacy when possible, and highlight concerns and areas for future study. Methods A Pubmed search was performed for English-language articles between January 1980 and June 2014. Studies were selected if they focused primarily on DBS to treat the conditions of focus. Results We identified 49 cases of DBS for myoclonus-dystonia, 21 for Huntington's disease, 15 for choreacanthocytosis, 129 for GTS, and 73 for tardive syndromes. Bilateral globus pallidus interna (GPi) DBS was the most frequently utilized procedure for all conditions except GTS, in which medial thalamic DBS was more common. While the majority of cases demonstrate some improvement, there are also reports of no improvement or even worsening of symptoms in each condition. The few studies including functional or quality of life outcomes suggest benefit. A limited number of studies included blinded on/off testing. There have been two double-blind controlled trials performed in GTS and a single prospective double-blind, uncontrolled trial in tardive syndromes. Patient characteristics, surgical target, stimulation parameters, and duration of follow-up varied among studies. Discussion Despite these extensive limitations, the literature overall supports the efficacy of DBS in these conditions, in particular GTS and tardive syndromes. For other conditions, the preliminary evidence from small studies is promising and encourages further study. PMID:25713746

  20. Blue rubber bleb naevus disease: an uncommon cause of gastrointestinal tract bleeding.

    PubMed Central

    Jennings, M; Ward, P; Maddocks, J L

    1988-01-01

    A 23 year old woman presented with facial pain, a right parotid tumour and iron deficiency anaemia. She had several cutaneous venous swellings and tumours with a similar appearance were found in the large bowel. Histological examination of the parotid tumour and angiography of the skin and gut lesions confirmed that they were venous in origin. The aetiology, classification, and complications of disorders of the venous system and the importance of using a tourniquet to examine the peripheral veins is discussed. Images Fig. 1 Fig. 2 Fig. 3 Fig. 4 Fig. 5 Fig. 6 Fig. 7 Fig. 8 Fig. 9 PMID:3264257

  1. [Rare locations of hydatid disease].

    PubMed

    Tocchi, A; Mazzoni, G; Lepre, L; Liotta, G; Costa, G; Maggiolini, F; Miccini, M

    1999-04-01

    The authors report their experience with uncommon hydatid cyst locations. Between 1970 and 1995 a total of 16 patients suffering from hydatid cysts located in various organs other than liver and lungs were observed. There were 7 women and 9 men with a mean of 53.3 years. In 10 cases uncommon locations were found to be isolated and in 6 associated to contemporary or previously treated hepatic cystic disease. Pathogenesis of these uncommon locations, whether being primary or secondary, as well as specific items of diagnosis and surgery are discussed.

  2. Geode of the femur: an uncommon manifestation potentially reflecting the pathogenesis of rheumatoid arthritis.

    PubMed

    Lee, Wonuk; Terk, Michael R; Hu, Bing; Garber, Elayne K; Weisman, Michael H

    2006-12-01

    Geodes are noted frequently in rheumatoid arthritis (RA), but large geodes of the femur are uncommon. We describe a patient with RA and a large geode in his femur; histological findings were consistent with a rheumatoid nodule and chronically inflamed synovium. We review the literature of large femoral geodes and what this particular manifestation may reflect about the pathogenesis of RA.

  3. A SURVEY OF INTENSIVE PROGRAMS IN THE UNCOMMON LANGUAGES, SUMMER 1962.

    ERIC Educational Resources Information Center

    HOENIGSWALD, HENRY M.; AND OTHERS

    THIS REPORT ON INTENSIVE COURSES IN THE UNCOMMON LANGUAGES CONDUCTED AT 22 AMERICAN COLLEGES AND UNIVERSITIES DURING THE SUMMER OF 1962 IS THE RESULT OF A SURVEY UNDERTAKEN BY H.M. HOENIGSWALD OF THE UNIVERSITY OF PENNSYLVANIA, R.B. NOSS OF THE FOREIGN SERVICE INSTITUTE, AND E.N. MCCARUS AND J.K. YAMAGIWA OF THE UNIVERSITY OF MICHIGAN. (BY…

  4. Pregnancy-like (pseudolactational) hyperplasia: uncommon cause of microcalcifications and mass in two cases.

    PubMed

    Koktener, A; Cakir, B; Akin, K; Kosehan, D; Bayrak, R; Yenidunya, S

    2013-01-01

    Pregnancy-like (pseudolactational) hyperplasia (PLH) is an uncommon lactational change occurring independently from pregnancy and lactation. PLH has been incidentally found during breast biopsies. We report two different cases of PLH with their clinical, radiologic, and pathologic findings. PMID:23610877

  5. Languages of South Asia. A Survey of Materials for the Study of the Uncommonly Taught Languages.

    ERIC Educational Resources Information Center

    Johnson, Dora E.; And Others

    This is an annotated bibliography of basic tools of access for the study of the uncommonly taught languages of South Asia. It is one of eight fascicles which constitute a revision of "A Provisional Survey of Materials for the Study of the Neglected Languages" (CAL 1969). The emphasis is on materials for the adult learner whose native language is…

  6. Uncommon Schools: An Innovative Approach to Rural Community Organization by County Agencies Utilizing Community Colleges.

    ERIC Educational Resources Information Center

    Hilbert, Harvey C.

    To recapture the spirit of Thoreau's "uncommon schools," a South Carolina county Department of Social Services (DSS) sought to create a "university" of the community which would provide experiences in the field for students, feed-back to DSS workers from the community and to the local college, and would utilize the resources of the agency, the…

  7. Pancytopenia in a Patient with Rendu-Osler-Weber Syndrome and Uncommon Vascular Abnormalities

    PubMed Central

    Gasbarrini, Antonio

    2016-01-01

    Rendu-Osler-Weber syndrome, or hereditary hemorrhagic teleangiectasia (HHT), is a rare autosomal dominant vascular disorder, characterized by multiple mucocutaneous teleangiectases with recurrent nasal and gastrointestinal bleedings and/or solid-organ arteriovenous shunts. We describe the first case to our knowledge of pancytopenia in a 53-year-old patient, with a known history of HHT and recurrent nasal and gastrointestinal bleedings, who was found to have a major splenic artery aneurysm and other uncommon vascular abnormalities. In the absence of other evident causes of pancytopenia, hypersplenism was diagnosed. The patient underwent coil embolization of the splenic artery aneurysm, followed by rapid and sustained increase of white blood cell and platelet count. Splenic artery aneurysms are extremely uncommon in HHT as only anecdotal cases have been reported to date. However, we believe that the aneurysm critically contributed to the progression of splenomegaly and the development of pancytopenia. PMID:27803822

  8. Carcinoid tumour of appendix in a child: a rare case at an uncommon site.

    PubMed

    Vani, B R; Thejaswini, M U; Kumar, B Deepak; Murthy, V Srinivasa; Geethamala, K

    2014-01-01

    Carcinoid tumours of the appendix are uncommon incidentally detected tumours during histopathological examination following appendicectomy for acute appendicitis. Even though considered rare in children, they are the most frequently encountered tumours of the gastrointestinal tract. To our knowledge, carcinoid tumour of appendix in childhood has not yet been reported from Indian Subcontinent. The clinical presentation is similar to acute appendicitis and the signs and symptoms of carcinoid syndrome have not been reported in children. The prognosis of carcinoid tumour of appendix is excellent in children as the tumour is generally small in size and less aggressive with no metastasis. Simple appendicectomy is curative in most of the patients and long term follow up is debatable. We present here a case of carcinoid tumour of the body of appendix, which is an uncommon location in a 6-year-old child.

  9. Distribution Patterns of Ohio Stoneflies, with an Emphasis on Rare and Uncommon Species

    PubMed Central

    Grubbs, Scott A.; Pessimo, Massimo; DeWalt, R. Edward

    2013-01-01

    Presently, 102 stonefly species (Plecoptera) have been reported from Ohio. All 9 Nearctic families are represented. Over 90% of the fauna exhibit a combination of broad Nearctic-widespread, eastern Nearctic-widespread, Appalachian, and eastern Nearctic-unglaciated distributions. In contrast, only 2 species display a central Nearctic-Prairie distribution. Seven species of Perlidae are likely no longer present (Acroneuria evoluta Klapálek, A. perplexa Frison, Attaneuria ruralis (Hagen), and Neoperla mainensis Banks) or have experienced marked range reductions (Acroneuria abnormis (Newman), A. frisoni Stark and Brown, and A. filicis Frison). Another nearly 31% of the fauna (32 species) are rare, uncommon, or have highly-limited distributions within the state. Twelve of these species have Appalachian distributions, and an additional 8 have eastern Nearctic-unglaciated distributions. The distributional status for each of the 32 rare/uncommon species is discussed. PMID:24219390

  10. Basal cell adenoma of the parotid gland: Cytological diagnosis of an uncommon tumor.

    PubMed

    Bhat, Amoolya; Rao, Madhuri; Geethamani, V; Shetty, Archana C

    2015-01-01

    Basal cell adenoma (BCA) is a rare benign epithelial tumor of the salivary gland, displaying monomorphic basaloid cells without a myxochondroid component, representing 1-3% of all salivary gland neoplasms seen predominantly in women over 50 years of age. It is uncommon in young adults. Cytodiagnosis of basaloid tumors chiefly basal cell adenoma of the salivary gland, is extremely challenging. The cytological differential diagnoses range from benign to malignant, neoplastic to non- neoplastic lesions. Histopathological examination is a must for definitive diagnosis, as these entities differ in prognosis and therapeutic aspects. We present a 22-years-old male with this uncommon diagnosis with a discussion on the role of cytological diagnosis. Fine needle aspiration cytology is a simple, minimally invasive method for the preoperative diagnosis of various types of neoplastic and non-neoplastic lesions. The knowledge of its pitfalls and limitations contributes to a more effective approach to treatment.

  11. Mucocele of the upper lip: case report of an uncommon presentation and its differential diagnosis.

    PubMed

    Mustapha, Indra Z; Boucree, Stanley A

    2004-05-01

    This report describes a lesion of the upper lip that was definitively diagnosed by histologic examination as a mucocele or mucus retention phenomenon. The usual location of mucoceles is the lower lip. This case illustrates an uncommon presentation of mucocele with respect to symptoms, location and duration. The features of a variety of oral lesions are discussed and compared, to help clinicians in establishing an appropriate differential diagnosis. PMID:15132815

  12. Uncommon complications of therapeutic endoscopic ultrasonography: What, why, and how to prevent

    PubMed Central

    Chantarojanasiri, Tanyaporn; Aswakul, Pitulak; Prachayakul, Varayu

    2015-01-01

    There is an increasing role for endoscopic ultrasound (EUS)-guided interventions in the treatment of many conditions. Although it has been shown that these types of interventions are effective and safe, they continue to be considered only as alternative treatments in some situations. This is in part due to the occurrence of complications with these techniques, which can occur even when performed by experienced endosonographers. Although common complications have been described for many procedures, it is also crucial to be aware of uncommon complications. This review describes rare complications that have been reported with several EUS-guided interventions. EUS-guided biliary drainage is accepted as an alternative treatment for malignant biliary obstruction. Most of the uncommon complications related to this procedure involve stent malfunction, such as the migration or malposition of stents. Rare complications of EUS-guided pancreatic pseudocyst drainage can result from air embolism and infection. Finally, a range of uncommon complications has been reported for EUS-guided celiac plexus neurolysis, involving neural and vascular injuries that can be fatal. The goal of this review is to identify possible complications and promote an understanding of how they occur in order to increase general awareness of these adverse events with the hope that they can be avoided in the future. PMID:26265989

  13. Uncommon Implantation Sites of Ectopic Pregnancy: Thinking beyond the Complex Adnexal Mass.

    PubMed

    Chukus, Anjeza; Tirada, Nikki; Restrepo, Ricardo; Reddy, Neelima I

    2015-01-01

    Ectopic pregnancy occurs when implantation of the blastocyst takes place in a site other than the endometrium of the uterine cavity. Uncommon implantation sites of ectopic pregnancy include the cervix, interstitial segment of the fallopian tube, scar from a prior cesarean delivery, uterine myometrium, ovary, and peritoneal cavity. Heterotopic and twin ectopic pregnancies are other rare manifestations. Ultrasonography (US) plays a central role in diagnosis of uncommon ectopic pregnancies. US features of an interstitial ectopic pregnancy include an echogenic interstitial line and abnormal bulging of the myometrial contour. A gestational sac that is located below the internal os of the cervix and that contains an embryo with a fetal heartbeat is indicative of a cervical ectopic pregnancy. In a cesarean scar ectopic pregnancy, the gestational sac is implanted in the anterior lower uterine segment at the site of the cesarean scar, with thinning of the myometrium seen anterior to the gestational sac. An intramural gestational sac implants in the uterine myometrium, separate from the uterine cavity and fallopian tubes. In an ovarian ectopic pregnancy, a gestational sac with a thick hyperechoic circumferential rim is located in or on the ovarian parenchyma. An intraperitoneal gestational sac is present in an abdominal ectopic pregnancy. Intra- and extrauterine gestational sacs are seen in a heterotopic pregnancy. Two adnexal heartbeats suggest a live twin ectopic pregnancy. Recognition of the specific US features will help radiologists diagnose these uncommon types of ectopic pregnancy.

  14. Sensitization to Common and Uncommon Pets or Other Furry Animals: Which May Be Common Mechanisms?

    PubMed

    Liccardi, G; Triggiani, M; Piccolo, A; Salzillo, A; Parente, R; Manzi, F; Vatrella, A

    2016-05-01

    Exposure to animal allergens constitutes a relevant risk factor for the development of allergic sensitization. Moreover, an increasing number of people become owners of less common animals. In this article we summarize aspects related to sensitization to cat/dog which may be applied also to uncommon pets or other furry animals. The data discussed here suggest that several different factors may induce allergic sensitization to furry animals with or without previous contact. Allergic sensitization without animal exposure is a relevant risk for patients because they are not aware about the possibility that even severe respiratory symptoms may develop after an occasional animal contact. This aspect should be taken into account by susceptible individuals before acquiring pets or beginning a contact for working/leisure activity with a common as well as uncommon animal. As a consequence, skin prick test and/or evaluation of specific IgE antibodies (by classic ImmunoCAP or micro-array technique ImmunoCAP ISAC) also to less common ("new") mammalian allergens could be recommended in individuals already sensitized to common pets to identify the occurrence of allergic sensitization and consequently to avoid future exposures to uncommon animal allergens. PMID:27326390

  15. Sensitization to Common and Uncommon Pets or Other Furry Animals: Which May Be Common Mechanisms?

    PubMed Central

    Liccardi, G; Triggiani, M; Piccolo, A; Salzillo, A; Parente, R; Manzi, F; Vatrella, A

    2016-01-01

    Exposure to animal allergens constitutes a relevant risk factor for the development of allergic sensitization. Moreover, an increasing number of people become owners of less common animals. In this article we summarize aspects related to sensitization to cat/dog which may be applied also to uncommon pets or other furry animals. The data discussed here suggest that several different factors may induce allergic sensitization to furry animals with or without previous contact. Allergic sensitization without animal exposure is a relevant risk for patients because they are not aware about the possibility that even severe respiratory symptoms may develop after an occasional animal contact. This aspect should be taken into account by susceptible individuals before acquiring pets or beginning a contact for working/leisure activity with a common as well as uncommon animal. As a consequence, skin prick test and/or evaluation of specific IgE antibodies (by classic ImmunoCAP or micro-array technique ImmunoCAP ISAC) also to less common (“new”) mammalian allergens could be recommended in individuals already sensitized to common pets to identify the occurrence of allergic sensitization and consequently to avoid future exposures to uncommon animal allergens. PMID:27326390

  16. Uncommon Surgical Causes Of Right Lower Quadrant Pain In Children. Single Center Experience.

    PubMed

    Lambropoulos, Vassilis; Papageorgiou, Irene; Kepertis, Chrysostomos; Sfoungaris, Dimitrios; Spyridakis, Ioannis

    2015-05-01

    Right lower quadrant pain is one of the major reasons of children reference at the emergency department. The most common surgical cause, which needs appropriate management, is acute appendicitis. The purpose of this study is to reveal uncommon surgical causes found during surgery in children who were misdiagnosed as acute appendicitis in our department during the last 10 y. Data of patients who have undergone appendicectomy during a ten year period (since Feb 2004 until Mar 2014) were collected retrospectively. Eight hundred twenty children have undergone appendicectomy in our department. In six children another uncommon cause of the symptoms was revealed during surgery. In one patient the cause was a duplication cyst of the terminal ileum, in two patients an omental torsion, in one patient a meckel diverticulum torsion, in one patient a splenic rupture and in one patient a retroperitoneal tumor. All of the patients were successfully managed during the first operation. The possibility of other uncommon causes of right quadrant abdominal pain should always be kept in mind, especially when there is a negative appendicitis. However, the transaction of further paraclinical examinations - ultrasonography or computed tomography- preoperatively is under discussion. Nevertheless a thoroughly taken case history is undoubtedly always necessary.

  17. Meta-analysis of Dense Genecentric Association Studies Reveals Common and Uncommon Variants Associated with Height

    PubMed Central

    Lanktree, Matthew B.; Guo, Yiran; Murtaza, Muhammed; Glessner, Joseph T.; Bailey, Swneke D.; Onland-Moret, N. Charlotte; Lettre, Guillaume; Ongen, Halit; Rajagopalan, Ramakrishnan; Johnson, Toby; Shen, Haiqing; Nelson, Christopher P.; Klopp, Norman; Baumert, Jens; Padmanabhan, Sandosh; Pankratz, Nathan; Pankow, James S.; Shah, Sonia; Taylor, Kira; Barnard, John; Peters, Bas J.; M. Maloney, Cliona; Lobmeyer, Maximilian T.; Stanton, Alice; Zafarmand, M. Hadi; Romaine, Simon P.R.; Mehta, Amar; van Iperen, Erik P.A.; Gong, Yan; Price, Tom S.; Smith, Erin N.; Kim, Cecilia E.; Li, Yun R.; Asselbergs, Folkert W.; Atwood, Larry D.; Bailey, Kristian M.; Bhatt, Deepak; Bauer, Florianne; Behr, Elijah R.; Bhangale, Tushar; Boer, Jolanda M.A.; Boehm, Bernhard O.; Bradfield, Jonathan P.; Brown, Morris; Braund, Peter S.; Burton, Paul R.; Carty, Cara; Chandrupatla, Hareesh R.; Chen, Wei; Connell, John; Dalgeorgou, Chrysoula; Boer, Anthonius de; Drenos, Fotios; Elbers, Clara C.; Fang, James C.; Fox, Caroline S.; Frackelton, Edward C.; Fuchs, Barry; Furlong, Clement E.; Gibson, Quince; Gieger, Christian; Goel, Anuj; Grobbee, Diederik E.; Hastie, Claire; Howard, Philip J.; Huang, Guan-Hua; Johnson, W. Craig; Li, Qing; Kleber, Marcus E.; Klein, Barbara E.K.; Klein, Ronald; Kooperberg, Charles; Ky, Bonnie; LaCroix, Andrea; Lanken, Paul; Lathrop, Mark; Li, Mingyao; Marshall, Vanessa; Melander, Olle; Mentch, Frank D.; J. Meyer, Nuala; Monda, Keri L.; Montpetit, Alexandre; Murugesan, Gurunathan; Nakayama, Karen; Nondahl, Dave; Onipinla, Abiodun; Rafelt, Suzanne; Newhouse, Stephen J.; Otieno, F. George; Patel, Sanjey R.; Putt, Mary E.; Rodriguez, Santiago; Safa, Radwan N.; Sawyer, Douglas B.; Schreiner, Pamela J.; Simpson, Claire; Sivapalaratnam, Suthesh; Srinivasan, Sathanur R.; Suver, Christine; Swergold, Gary; Sweitzer, Nancy K.; Thomas, Kelly A.; Thorand, Barbara; Timpson, Nicholas J.; Tischfield, Sam; Tobin, Martin; Tomaszweski, Maciej; Verschuren, W.M. Monique; Wallace, Chris; Winkelmann, Bernhard; Zhang, Haitao; Zheng, Dongling; Zhang, Li; Zmuda, Joseph M.; Clarke, Robert; Balmforth, Anthony J.; Danesh, John; Day, Ian N.; Schork, Nicholas J.; de Bakker, Paul I.W.; Delles, Christian; Duggan, David; Hingorani, Aroon D.; Hirschhorn, Joel N.; Hofker, Marten H.; Humphries, Steve E.; Kivimaki, Mika; Lawlor, Debbie A.; Kottke-Marchant, Kandice; Mega, Jessica L.; Mitchell, Braxton D.; Morrow, David A.; Palmen, Jutta; Redline, Susan; Shields, Denis C.; Shuldiner, Alan R.; Sleiman, Patrick M.; Smith, George Davey; Farrall, Martin; Jamshidi, Yalda; Christiani, David C.; Casas, Juan P.; Hall, Alistair S.; Doevendans, Pieter A.; D. Christie, Jason; Berenson, Gerald S.; Murray, Sarah S.; Illig, Thomas; Dorn, Gerald W.; Cappola, Thomas P.; Boerwinkle, Eric; Sever, Peter; Rader, Daniel J.; Reilly, Muredach P.; Caulfield, Mark; Talmud, Philippa J.; Topol, Eric; Engert, James C.; Wang, Kai; Dominiczak, Anna; Hamsten, Anders; Curtis, Sean P.; Silverstein, Roy L.; Lange, Leslie A.; Sabatine, Marc S.; Trip, Mieke; Saleheen, Danish; Peden, John F.; Cruickshanks, Karen J.; März, Winfried; O'Connell, Jeffrey R.; Klungel, Olaf H.; Wijmenga, Cisca; Maitland-van der Zee, Anke Hilse; Schadt, Eric E.; Johnson, Julie A.; Jarvik, Gail P.; Papanicolaou, George J.; Grant, Struan F.A.; Munroe, Patricia B.; North, Kari E.; Samani, Nilesh J.; Koenig, Wolfgang; Gaunt, Tom R.; Anand, Sonia S.; van der Schouw, Yvonne T.; Soranzo, Nicole; FitzGerald, Garret A.; Reiner, Alex; Hegele, Robert A.; Hakonarson, Hakon; Keating, Brendan J.

    2011-01-01

    Height is a classic complex trait with common variants in a growing list of genes known to contribute to the phenotype. Using a genecentric genotyping array targeted toward cardiovascular-related loci, comprising 49,320 SNPs across approximately 2000 loci, we evaluated the association of common and uncommon SNPs with adult height in 114,223 individuals from 47 studies and six ethnicities. A total of 64 loci contained a SNP associated with height at array-wide significance (p < 2.4 × 10−6), with 42 loci surpassing the conventional genome-wide significance threshold (p < 5 × 10−8). Common variants with minor allele frequencies greater than 5% were observed to be associated with height in 37 previously reported loci. In individuals of European ancestry, uncommon SNPs in IL11 and SMAD3, which would not be genotyped with the use of standard genome-wide genotyping arrays, were strongly associated with height (p < 3 × 10−11). Conditional analysis within associated regions revealed five additional variants associated with height independent of lead SNPs within the locus, suggesting allelic heterogeneity. Although underpowered to replicate findings from individuals of European ancestry, the direction of effect of associated variants was largely consistent in African American, South Asian, and Hispanic populations. Overall, we show that dense coverage of genes for uncommon SNPs, coupled with large-scale meta-analysis, can successfully identify additional variants associated with a common complex trait. PMID:21194676

  18. Metastatic Crohn's disease.

    PubMed

    Sangüeza, O P; Davis, L S; Gourdin, F W

    1997-09-01

    Metastatic Crohn's disease is the term used for granulomatous lesions of Crohn's disease involving sites other than the gastrointestinal tract. Metastatic Crohn's disease has been considered uncommon, when in actuality it may simply be underdiagnosed or misdiagnosed since the clinical findings can be different. We report on three patients with this condition: one with generalized plaques, another with perineal and perianal ulcerations, and a third with a painless forearm nodule. PMID:9305298

  19. Case series of choroid plexus papilloma in children at uncommon locations and review of the literature

    PubMed Central

    Prasad, G. Lakshmi; Mahapatra, Ashok Kumar

    2015-01-01

    Background: Choroid plexus papillomas (CPPs) comprise around 1% of intracranial neoplasms. The most common location is atrium of the lateral ventricle in children and fourth ventricle in adults. Other rare locations include third ventricle, cerebellopontine (CP) angle and cerebral parenchyma, with only a few cases reported. Authors report three cases of CPP at uncommon locations in pediatric patients. The rarity of these locations, diagnostic dilemma and management aspects are discussed along with an extensive review of the literature. Methods: Retrospective institutional data analysis of histopathologically confirmed pediatric CPPs from 2010 to 2014. Results: Authors noted three cases of CPP in children in uncommon locations-one each in the posterior third ventricle, fourth ventricle, and CP angle. All were males in the first decade. Two cases presented with features of obstructive hydrocephalus while the latter presented with compressive effects. Complete excision was achieved in two cases while subtotal removal was performed in one case (fourth ventricular) because of excess blood loss. Mean follow-up duration was 24.6 months (range 20–30 months). One case (of subtotal removal) had fair recovery while other two had excellent outcomes. Conclusions: Posterior third ventricle, fourth ventricle, and CP angle are uncommon locations for these tumors in children. Complete surgical removal is the treatment of choice and approach needs to be tailored according to the site and size of the lesion. Blood loss is a major concern in young children as they are highly vascular tumors. Complete removal leads to excellent long-term survival rates. Adjuvant treatment is not required. PMID:26500797

  20. Fatigue Stress Fracture of the Talar Body: An Uncommon Cause of Ankle Pain.

    PubMed

    Kim, Young Sung; Lee, Ho Min; Kim, Jong Pil; Moon, Han Sol

    2016-01-01

    Fatigue stress fractures of the talus are rare and usually involve the head of the talus in military recruits. We report an uncommon cause of ankle pain due to a fatigue stress fracture of the body of the talus in a 32-year-old male social soccer player. Healing was achieved after weightbearing suppression for 6 weeks. Although rare, a stress fracture of the body of the talus should be considered in an athlete with a gradual onset of chronic ankle pain. Magnetic resonance imaging and bone scan are useful tools for early diagnosis.

  1. Unruptured Sinus of Valsalva Aneurysm Obstructing the Left Ventricular Outflow Tract: An Uncommon Presentation in Childhood.

    PubMed

    Murli, Lakshmi; Shah, Prashant; Sekar, Prem; Surya, Karthik

    2016-01-01

    Congenital aneurysms of the sinus of Valsalva are uncommon abnormalities that are usually silent and slowly progressive without symptoms of cardiac dysfunction unless catastrophic rupture occurs. However, in rare cases, unruptured aneurysms can produce symptoms resulting from compression of adjacent structures, ventricular outflow tract obstruction, heart block, and coronary and valvular insufficiency. We report a case of a single unruptured sinus of Valsalva aneurysm producing left ventricular outflow tract obstruction in an 8-year-old boy who presented with chest pain on exertion.

  2. An uncommon clinical presentation of acute limb ischemia: underscoring the role of perigenicular collaterals.

    PubMed

    Georgakarakos, Efstratios; Kapoulas, Konstantinos; Koukoumtzis, Dimitris; Mantatzis, Michalis; Lazarides, Miltos K

    2012-06-01

    We present a case of atypical acute limb ischemia in a non-diabetic patient, with ankle-brachial pressure index of 0.6 and rest pain localized exclusively over the gastrocnemius muscle, sparing the foot. This uncommon presentation was attributed to an impaired perigenicular collateral network. Thrombolysis restored adequate perfusion only temporarily and was followed by thromboembolectomy. The ischemia presentation in our case underscores the importance of the adequacy of the perigeniculate collateral network for the perfusion of the tibial muscles and, especially, the gastrocnemius muscle. PMID:22416262

  3. Testicular infarction and rupture: an uncommon complication of epididymo-orchitis

    PubMed Central

    Chia, Daniel; Penkoff, Peter; Stanowski, Matthew; Beattie, Kieran; Wang, Audrey C.

    2016-01-01

    Epididymo-orchitis is a common diagnosis in men presenting with unilateral testicular pain. It can be of an infectious or non-infectious aetiology. Clinical examination and laboratory investigations do not reliably differentiate testicular infarction secondary to epididymo-orchitis from uncomplicated epididymo-orchitis. Definitive diagnosis is usually made by ultrasound. Misdiagnosis and under-treatment can lead to poor outcome, such as infarction and loss of the affected testis. We present an uncommon case of epididymo-orchitis resulting in testicular infarction and rupture despite normal initial investigations. PMID:27165751

  4. Lung carcinoma with rhabdoid component. A series of seven cases associated with uncommon types of non-small cell lung carcinomas and alveolar entrapment.

    PubMed

    Izquierdo-Garcia, Francisco M; Moreno-Mata, Nicolás; Herranz-Aladro, María Luisa; Cañizares, Miguel Angel; Alvarez-Fernandez, Emilio

    2010-10-01

    Rhabdoid tumor, included in the WHO classification among large cell carcinomas of the lung, is an uncommon type of lung carcinoma with poor prognosis. We report a series of 7 cases of lung carcinomas with rhabdoid component in 10% and 80% of the tumor. The associated tumor was adenocarcinoma in 3 cases--one of them with focal micropapillary pattern--large cell carcinoma in 2 cases, squamous cell carcinoma in 1 case and pleomorphic carcinoma in 1 case. Two adenocarcinomas showed a focal spindle cell component. Micropapillary and pleomorphic types had not been reported before as a component associated with rhabdoid carcinomas. All cases were positive for vimentin, and AE1/AE3 cytokeratin and 5 cases for cytokeratin 7. All cases were negative for muscle and endothelial markers and for chromogranin A. Synaptophysin was focally positive only in one case. Alveolar trapping inside the tumor was present in 3 cases--a phenomenon not well studied in lung carcinomas and also not reported in tumors with rhabdoid component. Five patients died because of the tumor within 2 to 31 months after diagnosis, one of myocardial infarction and only one is alive and disease free 123 months after the diagnosis. In summary, we describe 7 new cases of this uncommon lung tumor with aggressive clinical course, associated with infrequent histological types in nonrhabdoid component and with alveolar trapping, a nondescribed finding.

  5. Melanosis of the vagina and human papillomavirus infection, an uncommon pathology: case report.

    PubMed

    Núñez-Troconis, José; Delgado, Mariela; González, Gerardo; Rivas, Airiaudis; Molero, Katherine

    2011-09-01

    Benign melanotic lesions of the vagina are uncommon and only a few cases have been reported in the literature. A 34-year-old woman was referred because of a Vaginal Intraepithelial Neoplasia 1 biopsy result. On the gynecological examination, two different hyperpigmented areas were noted in the vagina. The colposcopic visualization of the cervix and vagina found an aceto-white lesion at the right lateral wall of the upper third of the vagina. Biopsies from three areas were taken. Histological study reported a melanosis of the vagina and HPV infection. An immunohistochemical panel of epithelial markers was performed in vaginal samples, such as Cytokeratin AE1/AE3 and epithelial membrane antigen, mesenchymal marker: vimentin; melanocytic makers: protein S-100 and HMB45 (Human Melanoma Black); proliferating cell marker: proliferating cell nuclear antigen (PCNA), and P-53 oncoprotein. High Risk (16, 18, 31, 45) and Low Risk (6, 11) HPV types were studied by In Situ Hybridization using the same vaginal samples. CK, EMA and Vimentin were 2+. Melanocytic markers, HMB45 and S100, and PCNA were 1+ in basal cell layer. P-53 was negative. The melanotic tissue and acetowhite lesion were positives to HPV Types 6,11. In conclusion, melanosis of the vagina is a uncommon benign pathology. Usually, melanosis is present in women over 40 years old. We present a case of melanosis of the vagina in a young woman infected with low-risk HPV types and review the literature.

  6. Anaesthetic management for a patient with Dejerine-Sottas disease and asthma.

    PubMed

    Huang, J; Soliman, I

    2001-03-01

    Dejerine-Sottas disease is a very uncommon degenerative disease of the peripheral nervous system. The details of perioperative anaesthetic management are discussed including the use of epidural anaesthesia, with supplemental intravenous anaesthesia and an LMA. PMID:11240883

  7. The Cyborg Astrobiologist: scouting red beds for uncommon features with geological significance

    NASA Astrophysics Data System (ADS)

    McGuire, Patrick Charles; Díaz-Martínez, Enrique; Ormö, Jens; Gómez-Elvira, Javier; Rodríguez-Manfredi, José Antonio; Sebastián-Martínez, Eduardo; Ritter, Helge; Haschke, Robert; Oesker, Markus; Ontrup, Jörg

    2005-04-01

    The `Cyborg Astrobiologist' has undergone a second geological field trial, at a site in northern Guadalajara, Spain, near Riba de Santiuste. The site at Riba de Santiuste is dominated by layered deposits of red sandstones. The Cyborg Astrobiologist is a wearable computer and video camera system that has demonstrated a capability to find uncommon interest points in geological imagery in real time in the field. In this second field trial, the computer vision system of the Cyborg Astrobiologist was tested at seven different tripod positions, on three different geological structures. The first geological structure was an outcrop of nearly homogeneous sandstone, which exhibits oxidized-iron impurities in red areas and an absence of these iron impurities in white areas. The white areas in these `red beds' have turned white because the iron has been removed. The iron removal from the sandstone can proceed once the iron has been chemically reduced, perhaps by a biological agent. In one instance the computer vision system found several (iron-free) white spots to be uncommon and therefore interesting, as well as several small and dark nodules. The second geological structure was another outcrop some 600 m to the east, with white, textured mineral deposits on the surface of the sandstone, at the bottom of the outcrop. The computer vision system found these white, textured mineral deposits to be interesting. We acquired samples of the mineral deposits for geochemical analysis in the laboratory. This laboratory analysis of the crust identifies a double layer, consisting of an internal millimetre-size layering of calcite and an external centimetre-size efflorescence of gypsum. The third geological structure was a 50 cm thick palaeosol layer, with fossilized root structures of some plants. The computer vision system also found certain areas of these root structures to be interesting. A quasi-blind comparison of the Cyborg Astrobiologist's interest points for these images with the

  8. An uncommon disorder with multiple skeletal anomalies: Gorlin-Goltz syndrome.

    PubMed

    Keçeli, Onur; Coskun-Benlidayı, İlke; Benlidayı, M Emre; Erdoğan, Özgür

    2014-01-01

    Gorlin-Goltz syndrome is an uncommon disorder transmitted through autosomal dominant inheritance. This syndrome is characterized by multiple odontogenic keratocysts, along with congenital skeletal anomalies and basal cell carcinomas. A 16-year-old girl was admitted with a complaint of swelling on the lower jaw. She had multiple basal cell nevi on both hands. Multiple lytic bone lesions on radiographs were defined as odontogenic keratocysts following the biopsy. The patient was referred to the Department of Physical Medicine and Rehabilitation for detailed musculoskeletal evaluation. Adam's forward bend test revealed a hump on the right side representing right thoracic scoliosis. Cervical kyphosis, thoracic lordosis and scoliosis, bifid rib and sacral and lumbar spina bifida on plain radiographs led to the diagnosis of Gorlin-Goltz syndrome. Since early diagnosis may provide optimum surveillance for related neoplasms, it is of paramount importance for pediatricians as well as physicians dealing with the musculoskeletal system to be aware of this rare condition. PMID:25818966

  9. Adrenocortical carcinoma: An extremely uncommon entity and the role of Immunohistochemistry in its diagnosis.

    PubMed

    Gogoi, G; Baruah, Manash P; Borah, P; Borgohain, M

    2012-12-01

    Adrenocortcal carcinoma is an extremely uncommon entity with an incidence of two in one millionth population. Here we present a 60 year gentleman with pain in abdomen, nausea, and backache, and weight loss. Contrast enhanced computed tomography (CECT) abdomen revealed a heterogenous well defined mass measuring (15 × 10.3 × 13) cm(3) on the left suprarenal region with central necrosis which extended medially up to the midline. Locally, the growth infiltrated the upper pole of left kidney. Initially, the differential diagnosis included that of renal cell carcinoma arising from upper pole of left kidney involving adrenal gland. The patient underwent left radical nephrectomy and left adrenalectomy. Histological evaluation could not differentiate it from of malignant pheochromocytoma, but immunohistochemistry confirmed it as adrenocortical carcinoma. This case highlights the crucial role of immunohistochemistry in establishing the diagnosis like tumors. PMID:23565434

  10. Rivaroxaban-Induced Nontraumatic Spinal Subdural Hematoma: An Uncommon Yet Life-Threatening Complication

    PubMed Central

    Zaarour, Mazen; Hassan, Samer; Thumallapally, Nishitha; Dai, Qun

    2015-01-01

    In the last decade, the desire for safer oral anticoagulants (OACs) led to the emergence of newer drugs. Available clinical trials demonstrated a lower risk of OACs-associated life-threatening bleeding events, including intracranial hemorrhage, compared to warfarin. Nontraumatic spinal hematoma is an uncommon yet life-threatening neurosurgical emergency that can be associated with the use of these agents. Rivaroxaban, one of the newly approved OACs, is a direct factor Xa inhibitor. To the best of our knowledge, to date, only two published cases report the incidence of rivaroxaban-induced nontraumatic spinal subdural hematoma (SSDH). Our case is the third one described and the first one to involve the cervicothoracic spine. PMID:26543654

  11. Birds of a feather: an uncommon cause of pneumonia and meningoencephalitis.

    PubMed

    Ionescu, Anne-Marie; Khare, Divya; Kavi, Jay

    2016-09-12

    A 61-year-old man was admitted with a 1-week history of influenza-like symptoms during a period of increased influenza virus activity. He soon developed type 2 respiratory failure and became increasingly drowsy. He later suffered a convulsive episode in the intensive care unit (ICU) which self-terminated. Initial clinical findings suggested community-acquired pneumonia and meningoencephalitis. However, a detailed history revealed that he was a pet bird-keeper, which raised a suspicion of ornithosis. Chlamydia psittaci DNA was detected in sputum by PCR. He was started on appropriate antibiotics and made a full recovery. We present this uncommon cause of pneumonia as an example of the importance of accurate history-taking to ensure a correct diagnosis for optimal management.

  12. Birds of a feather: an uncommon cause of pneumonia and meningoencephalitis.

    PubMed

    Ionescu, Anne-Marie; Khare, Divya; Kavi, Jay

    2016-01-01

    A 61-year-old man was admitted with a 1-week history of influenza-like symptoms during a period of increased influenza virus activity. He soon developed type 2 respiratory failure and became increasingly drowsy. He later suffered a convulsive episode in the intensive care unit (ICU) which self-terminated. Initial clinical findings suggested community-acquired pneumonia and meningoencephalitis. However, a detailed history revealed that he was a pet bird-keeper, which raised a suspicion of ornithosis. Chlamydia psittaci DNA was detected in sputum by PCR. He was started on appropriate antibiotics and made a full recovery. We present this uncommon cause of pneumonia as an example of the importance of accurate history-taking to ensure a correct diagnosis for optimal management. PMID:27620382

  13. Uncommon Trimethoxylated Flavonol Obtained from Rubus rosaefolius Leaves and Its Antiproliferative Activity.

    PubMed

    Petreanu, Marcel; Ferreira, Emili Kamila; Sagaz, Ana Paula M; Vendramini-Costa, Débora B; Ruiz, Ana Lúcia T G; De Carvalho, João Ernesto; Campos, Adriana; Cechinel Filho, Valdir; Delle Monache, Franco; Niero, Rivaldo

    2015-01-01

    This study shows the evaluation the antiproliferative effect of the extract, fractions, and uncommon compounds isolated from R. rosaefolius leaves. The compounds were identified by conventional spectroscopic methods such as NMR-H(1) and C(13) and identified as 5,7-dihydroxy-6,8,4'-trimethoxyflavonol (1), 5-hydroxy-3,6,7,8,4'-pentamethoxyflavone (2), and tormentic acid (3). Both hexane and dichloromethane fractions showed selectivity for multidrug-resistant ovary cancer cell line (NCI-ADR/RES) with total growth inhibition values of 11.1 and 12.6 μg/ml, respectively. Compound 1 also showed selective activity against the same cell line (18.8 μg/ml); however, it was especially effective against glioma cells (2.8 μg/ml), suggesting that this compound may be involved with the in vitro antiproliferative action. PMID:26788108

  14. Apomictic parthenogenesis in a parasitoid wasp Meteorus pulchricornis, uncommon in the haplodiploid order Hymenoptera.

    PubMed

    Tsutsui, Y; Maeto, K; Hamaguchi, K; Isaki, Y; Takami, Y; Naito, T; Miura, K

    2014-06-01

    Although apomixis is the most common form of parthenogenesis in diplodiploid arthropods, it is uncommon in the haplodiploid insect order Hymenoptera. We found a new type of spontaneous apomixis in the Hymenoptera, completely lacking meiosis and the expulsion of polar bodies in egg maturation division, on the thelytokous strain of a parasitoid wasp Meteorus pulchricornis (Wesmael) (Braconidae, Euphorinae) on pest lepidopteran larvae Spodoptera litura (Fabricius) (Noctuidae). The absence of the meiotic process was consistent with a non-segregation pattern in the offspring of heterozygous females, and no positive evidence was obtained for the induction of thelytoky by any bacterial symbionts. We discuss the conditions that enable the occurrence of such rare cases of apomictic thelytoky in the Hymenoptera, suggesting the significance of fixed heterosis caused by hybridization or polyploidization, symbiosis with bacterial agents, and occasional sex. Our finding will encourage further genetic studies on parasitoid wasps to use asexual lines more wisely for biological control. PMID:24521569

  15. Localized Pigmented Villonodular Synovitis of the shoulder: a rare presentation of an uncommon pathology.

    PubMed

    Madruga Dias, João; Costa, Maria Manuela; Duarte, Artur; Pereira da Silva, José A

    2013-01-01

    Pigmented Vilonodular Synovitis is a rare clinical entity characterized as a synovial membrane benign tumour, despite possible aggressive presentation with articular destruction. The localized variant is four times less frequent and the shoulder involvement is uncommon. We present the case of a Caucasian 59 year-old patient, who presented with left shoulder pain, of uncharacteristic quality, with local swelling and marked functional limitation of 1 month duration. Shoulder ultrasonography showed subacromial bursitis. An ultrasound-guided aspiration was performed: synovial fluid was citrine-colored and translucid. One month later, the patient maintained swelling, pain and functional impairment of the left shoulder. New shoulder ultrasound revealed exuberant subacromial bursitis, which was again aspirated using ultrasound guidance. The synovial fluid was haematic, without changes in the cell count or biochemical analysis and cultural exams. We performed an injection with 60 mg of hexacetonide triamcinolone. Two months later there was a relapse, with shoulder ultrasonography once more showing subacromial bursitis with extensive synovial membrane proliferation. Shoulder MRI revealed subacromial bursitis involving the anterior, posterior and medial recesses, with deltoid distension, but without tendinous or intra-articular involvement. In the interior of the bursa hypointense images in T2 were observed, suggesting the diagnosis of Pigmented Vilonodular Synovitis. The patient had surgical bursectomy with success and without complications. The histological exam of the operatory piece confirmed the imaging diagnosis. Pigmented Vilonodular Synovitis is uncommon, rarely affecting the shoulder in a localized variant. It is a diagnosis to be considered in shoulder pain, especially if associated with recurrent subacromial bursitis. PMID:24016657

  16. Treatment of uncommon sites of focal primary hyperhidrosis: experience with pharmacological therapy using oxybutynin

    PubMed Central

    Teivelis, Marcelo Passos; Wolosker, Nelson; Krutman, Mariana; Kauffman, Paulo; de Campos, José Ribas Milanez; Puech-Leão, Pedro

    2014-01-01

    OBJECTIVES: Primary hyperhidrosis usually affects the hands, armpits, feet and cranio-facial region. Sweating in other areas is common in secondary hyperhidrosis (after surgery or in specific clinical conditions). Oxybutynin has provided good results and is an alternative for treating hyperhidrosis at common sites. Our aim was to evaluate the efficacy of oxybutynin as a treatment for primary sweating at uncommon sites (e.g., the back and groin). METHODS: This retrospective study analyzed 20 patients (10 females) who received oxybutynin for primary focal hyperhidrosis at uncommon sites. The subjects were evaluated to determine quality of life before beginning oxybutynin and six weeks afterward and they were assigned grades (on a scale from 0 to 10) to measure their improvement at each site of excessive sweating after six weeks and at the last consult. RESULTS: The median follow-up time with oxybutynin was 385 days (133-1526 days). The most common sites were the back (n = 7) and groin (n = 5). After six weeks, the quality of life improved in 85% of the subjects. Dry mouth was very common and was reported by 16 patients, 12 of whom reported moderate/severe dry mouth. Five patients stopped treatment (two: unbearable dry mouth, two: excessive somnolence and one: palpitations). At the last visit, 80% of patients presented with moderate/great improvement at the main sites of sweating. CONCLUSION: After six weeks, more than 80% of the patients presented with improvements in their overall quality of life and at the most important site of sweating. Side effects were common (80% reported at least one side effect) and caused 25% of the patients to discontinue treatment. Oxybutynin is effective for treating bothersome hyperhidrosis, even at atypical locations and most patients cope well with the side effects. PMID:25318092

  17. [Influences of uncommon isoenzymes on determination of alkaline phosphatase activity by dry-chemistry analyzers].

    PubMed

    Tozawa, T; Hashimoto, M

    2001-04-01

    Dry-chemistry(DC) analysis may be influenced by some matrix effects for measuring uncommon isoenzyme forms. Placental and intestinal alkaline phosphatase(AP) are overestimated by the VITROS DC, compared with results obtained with the wet-chemistry(WC) method of Bretaudiere, et al. using 2-amino-2-methyl-1-propanol (AMP) buffer, however, no such discrepancy between AP results in any DC method and that with a routine WC method recommended by Japanese Society of Clinical Chemistry in that 2-ethylaminoethanol(EAE) buffer is used, has been demonstrated. The type of buffer used affects differently the rates of AP isoenzymes activities. We therefore examined whether the presence of uncommon AP isoenzyme forms in serum caused aberrant DC results for AP in comparison with a routine WC method using EAE buffer. Here, serum samples with only liver AP and bone AP(n : 32); high-molecular-mass AP(n : 11); placental AP(n : 12); intestinal AP(n : 13) and immunoglobulin (Ig) bound AP(n : 12) were analyzed for total AP activity on three different DC analyzers: VITROS 700XR, FUJIDRYCHEM 5000, SPOTCHEM 4410 and a WC analyzer: HITACHI 7350. Values obtained in all of the DCs for sera containing only liver/bone AP agreed with those with the WC method. For sera containing placental AP, the VITROS values were higher than those with the WC method, while the FUJIDRYCHEM values and the SPOTCHEM values were lower. The VITROS values and the FUJIDRYCHEM values for sera containing intestinal AP were lower than those with the WC method, while the SPOTCHEM values were higher. All of the DCs did not affect high-molecular-mass AP and Ig bound liver/bone AP types of macro AP, but underestimated Ig bound intestinal type. Ig bound intestinal AP may be sieved by DC multilayer elements. PMID:11391954

  18. 5-Oxoproline as a cause of high anion gap metabolic acidosis: an uncommon cause with common risk factors.

    PubMed

    Kortmann, W; van Agtmael, M A; van Diessen, J; Kanen, B L J; Jakobs, C; Nanayakkara, P W B

    2008-09-01

    High anion gap metabolic acidosis might be caused by 5-oxoproline (pyroglutamic acid). As it is very easy to treat, it might be worth drawing attention to this uncommon and probably often overlooked diagnosis. We present three cases of high anion gap metabolic acidosis due to 5-oxoproline seen within a period of six months.

  19. Languages of Sub-Saharan Africa. A Survey of Materials for the Study of the Uncommonly Taught Languages.

    ERIC Educational Resources Information Center

    Johnson, Dora E.; And Others

    This is an annotated bibliography of basic tools of access for the study of the uncommonly taught languages of Sub-Saharan Africa. It is one of eight fascicles which constitute a revision of "A Provisional Survey of Materials for the Study of the Neglected Languages" (CAL 1969). The emphasis is on materials for the adult learner whose native…

  20. Languages of Eastern Europe and the Soviet Union. A Survey of Materials for the Study of the Uncommonly Taught Languages.

    ERIC Educational Resources Information Center

    Johnson, Dora E.; And Others

    This is an annotated bibliography of basic tools of access for the study of the uncommonly taught languages of Eastern Europe and the Soviet Union. It is one of eight fascicles which constitute a revision of "A Provisional Survey of Materials for the Study of the Neglected Languages" (CAL 1969). Although the focus is on materials for the…

  1. Languages of North, Central, and South America. A Survey of Materials for the Study of the Uncommonly Taught Languages.

    ERIC Educational Resources Information Center

    Johnson, Dora E.; And Others

    This is an annotated bibliography of basic tools of access for the study of the uncommonly taught languages of North, Central, and South America. It is one of eight fascicles which constitute a revision of "A Provisional Survey of Materials for the Study of the Neglected Languages" (CAL 1969). The emphasis is on materials for the adult learner…

  2. Suprasellar Mature Cystic Teratoma: An Unusual Location for an Uncommon Tumor

    PubMed Central

    Sweiss, Raed B.; Sweiss, Fadi B.; Dalvin, Lauren; Siddiqi, Javed

    2013-01-01

    Intracranial germ cell tumors are uncommon and account for only 0.3–3.4% of all intracranial tumors. Teratomas are a subset of these neoplasms, and their finding in brain structures is exceptionally rare, and occurrence within the skull base is quite novel. The authors report the case of a 57-year-old male patient who presented with vision changes, incontinence, ataxia, and altered mental status of 1 week's duration. Imaging revealed a large intrasellar mass with suprasellar extension, involvement of the ventricular system, and marked hydrocephalus with the enlargement of the lateral and third ventricles. The patient underwent a pterional craniotomy/transsylvian approach for resection of the mass. Postoperative histological examination of the resected mass was confirmatory for a mature cystic teratoma. This was followed by radiotherapy, stereotactic radiosurgery, and adjuvant radiotherapy. At the most recent followup, approximately 4 years later, the patient is doing well with improved vision since the operation. This report highlights our experience with a teratoma in a very unusual location, and we review the relevant literature. PMID:24198987

  3. An uncommon cause of chest pain – penetrating atherosclerotic aortic ulcer

    PubMed Central

    Kyaw, Htoo; Sadiq, Sanah; Chowdhury, Arnab; Gholamrezaee, Rashin; Yoe, Linus

    2016-01-01

    Chest pain is a very common symptom and can be of cardiac or non-cardiac origin. It accounts for approximately 5.5 million annual emergency room visits in the United States, according to 2011 CDC data. Penetrating atherosclerotic aortic ulcer (PAU), an uncommon condition, is also a potential cause of chest pain. We here report the case of a 65-year-old woman who presented with atypical chest and back pain. The pain persisted for 4 weeks necessitating two emergency room visits. Initial tests were non-significant including cardiac troponins, an electrocardiogram (EKG), and a chest X-ray on her first visit. Upon her second visit, she underwent a computed tomography angiogram of chest with contrast which revealed a PAU with an intramural hematoma in descending aorta. The PAU was finally diagnosed with an exclusion of other chest pain causes. She was treated non-surgically with a blood pressure control strategy and pain management. After a 2-month period of smoking cessation and following the achievement of a controlled blood pressure, she felt well without chest pain. PMID:27406453

  4. Uncommon formation of two antiparallel sperm bundles per cyst in tenebrionid beetles (Coleoptera)

    NASA Astrophysics Data System (ADS)

    Dias, Glenda; Yotoko, Karla S. C.; Gomes, Luiz F.; Lino-Neto, José

    2012-09-01

    Several species of Tenebrionidae are stored-grain pests. Since they belong to a specious family, the systematics of these beetles is still in doubt. In insects, spermatogenesis and the spermatozoa exhibit great diversity, and are therefore commonly used in phylogenetic and taxonomic analyses. During the spermatogenetic process in these organisms, the cells originating from a single spermatogonium develop synchronically in groups referred to as cysts. At the end of this process, there is usually only one sperm bundle per cyst, with all the cells in the same orientation. This paper details the spermiogenesis of the tenebrionid beetles Tenebrio molitor, Zophobas confusa, Tribolium castaneum and Palembus dermestoides using whole mount and histological sections of the cysts. In these species, spermatogenesis is similar to that which occurs in most insects. However, during spermiogenesis, the nuclei of the spermatids migrate to two opposite regions at the periphery of the cyst, leading to the uncommon formation of two bundles of spermatozoa per cyst. This feature is possibly an apomorphy for Tenebrionidae.

  5. FUS-ERG gene fusion in isolated myeloid sarcoma showing uncommon clinical features.

    PubMed

    Ueda, Ryosuke; Maruyama, Dai; Nomoto, Junko; Maeshima, Akiko M; Fukuhara, Suguru; Kitahara, Hideaki; Miyamoto, Ken-Ichi; Munakata, Wataru; Suzuki, Tatsuya; Taniguchi, Hirokazu; Kobayashi, Yukio; Tobinai, Kensei

    2016-01-01

    FUS-ERG gene fusion has not been reported in cases of myeloid sarcoma (MS), a subtype of acute myeloid leukemia involving extramedullary anatomic sites. Here, we report a case of a 48-year-old man with primary isolated MS of the anterior mediastinum, who later developed multiple extramedullary recurrences without bone marrow infiltration throughout the course. G-banding analysis of the cells in pericardial effusion at recurrence showed complex karyotypic abnormalities including t(16;21)(p11.2;q22). FUS break-apart fluorescent in situ hybridization analysis showed split signals in biopsy sections at initial diagnosis and recurrence. Reverse transcriptase polymerase chain reaction and direct sequencing demonstrated the presence of the FUS-ERG chimeric gene transcript. The patient underwent cord blood transplantation, but died of pneumonia on day 64. To our knowledge, this is the first report of isolated MS carrying FUS-ERG gene fusion. In future study, relationship between the fusion gene and uncommon clinical features should be investigated in isolated MS. PMID:26770812

  6. Direct visualization of both DNA and RNA quadruplexes in human cells via an uncommon spectroscopic method

    PubMed Central

    Laguerre, Aurélien; Wong, Judy M. Y.; Monchaud, David

    2016-01-01

    Guanine-rich DNA or RNA sequences can fold into higher-order, four-stranded structures termed quadruplexes that are suspected to play pivotal roles in cellular mechanisms including the control of the genome integrity and gene expression. However, the biological relevance of quadruplexes is still a matter of debate owing to the paucity of unbiased evidences of their existence in cells. Recent reports on quadruplex-specific antibodies and small-molecule fluorescent probes help dispel reservations and accumulating evidences now pointing towards the cellular relevance of quadruplexes. To better assess and comprehend their biology, developing new versatile tools to detect both DNA and RNA quadruplexes in cells is essential. We report here a smart fluorescent probe that allows for the simple detection of quadruplexes thanks to an uncommon spectroscopic mechanism known as the red-edge effect (REE). We demonstrate that this effect could open avenues to greatly enhance the ability to visualize both DNA and RNA quadruplexes in human cells, using simple protocols and fluorescence detection facilities. PMID:27535322

  7. D-β-aspartyl residue exhibiting uncommon high resistance to spontaneous peptide bond cleavage

    PubMed Central

    Aki, Kenzo; Okamura, Emiko

    2016-01-01

    Although L-amino acids were selected as main constituents of peptides and proteins during chemical evolution, D-aspartyl (Asp) residue is found in a variety of living tissues. In particular, D-β-Asp is thought to be stable than any other Asp isomers, and this could be a reason for gradual accumulation in abnormal proteins and peptides to modify their structures and functions. It is predicted that D-β-Asp shows high resistance to biomolecular reactions. For instance, less reactivity of D-β-Asp is expected to bond cleavage, although such information has not been provided yet. In this work, the spontaneous peptide bond cleavage was compared between Asp isomers, by applying real-time solution-state NMR to eye lens αΑ-crystallin 51–60 fragment, S51LFRTVLD58SG60 and αΒ-crystallin 61–67 analog, F61D62TGLSG67 consisting of L-α- and D-β-Asp 58 and 62, respectively. Kinetic analysis showed how tough the uncommon D-β-Asp residue was against the peptide bond cleavage as compared to natural L-α-Asp. Differences in pKa and conformation between L-α- and D-β-Asp side chains were plausible factors to determine reactivity of Asp isomers. The present study, for the first time, provides a rationale to explain less reactivity of D-β-Asp to allow abnormal accumulation. PMID:26876027

  8. D-β-aspartyl residue exhibiting uncommon high resistance to spontaneous peptide bond cleavage

    NASA Astrophysics Data System (ADS)

    Aki, Kenzo; Okamura, Emiko

    2016-02-01

    Although L-amino acids were selected as main constituents of peptides and proteins during chemical evolution, D-aspartyl (Asp) residue is found in a variety of living tissues. In particular, D-β-Asp is thought to be stable than any other Asp isomers, and this could be a reason for gradual accumulation in abnormal proteins and peptides to modify their structures and functions. It is predicted that D-β-Asp shows high resistance to biomolecular reactions. For instance, less reactivity of D-β-Asp is expected to bond cleavage, although such information has not been provided yet. In this work, the spontaneous peptide bond cleavage was compared between Asp isomers, by applying real-time solution-state NMR to eye lens αΑ-crystallin 51-60 fragment, S51LFRTVLD58SG60 and αΒ-crystallin 61-67 analog, F61D62TGLSG67 consisting of L-α- and D-β-Asp 58 and 62, respectively. Kinetic analysis showed how tough the uncommon D-β-Asp residue was against the peptide bond cleavage as compared to natural L-α-Asp. Differences in pKa and conformation between L-α- and D-β-Asp side chains were plausible factors to determine reactivity of Asp isomers. The present study, for the first time, provides a rationale to explain less reactivity of D-β-Asp to allow abnormal accumulation.

  9. Uncommon functional properties of the first piscine 26S proteasome from the Antarctic notothenioid Trematomus bernacchii.

    PubMed

    Gogliettino, Marta; Balestrieri, Marco; Riccio, Alessia; Facchiano, Angelo; Fusco, Carmela; Palazzo, Vincenzo Cecere; Rossi, Mosè; Cocca, Ennio; Palmieri, Gianna

    2016-01-01

    Protein homoeostasis is a fundamental process allowing the preservation of functional proteins and it has a great impact on the life of the Antarctic organisms. However, the effect of low temperatures on protein turnover is poorly understood and the cold-adaptation of the degradation machinery remains an unresolved issue. As the 26S proteasome represents the main proteolytic system devoted to the controlled degradation of intracellular proteins, the purpose of the present study was to investigate the functions of this complex in the notothenioid Trematomus bernacchii, in order to better understand its role in the physiology of Antarctic fish. To this aim, we purified and characterized the 26S proteasome from T. bernacchii and isolated the cDNAs codifying seven of the 14 subunits belonging to the proteasome 20S core particle. Results provided evidences of the high resistance of the piscine 26S proteasome to oxidative agents and of its 'uncommon' ability to efficiently hydrolyse oxidized bovine serum albumin (BSA), suggesting that this enzymatic complex could play a key role in the antioxidant defense systems in fish inhabiting permanently cold marine environments. These unique properties were also reflected by the 3D model analysis, which revealed a higher structural stability of the piscine complex respect to the murine template. Finally, a comparative analysis, performed in a variety of tissues collected from T. bernacchii and the temperate fish Dicentrarchus labrax, showed a lower protein retention in the cold-adapted fish, possibly due to a better efficiency of its degradation machinery.

  10. Polymer Selection Approach for Commonly and Uncommonly Used Natural Fibers Under Uncertainty Environments

    NASA Astrophysics Data System (ADS)

    AL-Oqla, Faris M.; Sapuan, S. M.

    2015-07-01

    Factors like awareness of the scarcity of non-renewable natural resources, high petroleum prices, and demands for environmental sustainability, as well as reducing the amount of environmental pollution, have led to a renewed interest in natural fiber reinforced polymer composites as a potential bio-based material type. The best polymer matrix type in view of the wide range of conflicting criteria to form a polymeric-based composite material suitable for sustainable industry under an uncertainty environment has still not been sufficiently determined. This work introduces a selection model to evaluate the available polymers for natural fibers to enhance the industrial sustainability theme. The model built was developed to evaluate various polymer types and to determine their relative merits taking account of various conflicting criteria for both commonly used and uncommonly used natural fibers utilizing the analytical hierarchy process technique. It was found that the choice of the best polymer type for a certain fiber type depends strongly on the polymers' intrinsic desirable conflicting characteristics. Polymers evaluations are illustrated for different technical criteria in order to facilitate the polymer selection process for various industrial applications with high confidence levels.

  11. An uncommon case of a suicide with inhalation of hydrogen cyanide.

    PubMed

    Musshoff, F; Kirschbaum, K M; Madea, B

    2011-01-30

    An uncommon suicide by oral ingestion of potassium cyanide salts and contemporaneous inhalation of hydrogen cyanide is presented. A 48-year-old tradesman was found dead sitting in his car. A penetrating odor of bitter almonds was noticed when opening the doors. A camping stove and a cooking pot containing large amounts of dark blue crystals were found in the footwell of the car. White powder adhered to his fingers and to the area around the mouth. Furthermore bottles containing potassium ferrocyanide and different kinds of acid and leach were found in the car together with internet information about, e.g. potassium ferrocyanide and potassium cyanide. At autopsy hemorrhages and erosions of the mucosa of the respiratory tract, esophagus and stomach were found. Concentrations of cyanide were 0.2mg/l in stomach contents, 0.96mg/kg in brain tissue, 2.79mg/kg in lungs, and 5.3mg/l in blood. The white and toxic powder potassium cyanide was formed by heating of the yellow crystals of potassium ferrocyanide on the camping stove. This powder was probably ingested orally. Addition of acid converted the salt into the highly toxic gas hydrogen cyanide. Oxidation with atmospheric oxygen built the dark blue ferrous compound Prussian blue. This case report of a person who was not familiar with chemicals demonstrates the acquisition of professional information via the internet, enabling a suicide with a complex procedure.

  12. Obstructive sleep apnea syndrome caused by uncommon tumors of the upper aerodigestive tract

    PubMed Central

    Zhu, Shao-Jun; Wang, Qin-Ying; Zhou, Shui-Hong; Bao, Yang-Yang; Wang, Shen-Qing

    2014-01-01

    Obstructive sleep apnea syndrome (OSAS) is always caused by anatomic abnormalities, including nasal cavity, pharynx, and neuromuscular dysfunctions, leading to airway narrowing. OSAS associated with a mass in the aerodigestive tract is rare. In the present study, we report OSAS caused by 9 cases of preoperative uncommon tumors in the aerodigestive tract. Two tumors in the parapharyngeal space were pleomorphic adenoma, one oropharyngeal tumor was mucoepidermoid carcinoma, one tumor in the right tonsil was schwannoma, and five tumors were non-Hodgkin’s lymphoma (NHL). Of the five NHL cases, one in the nasopharynx was diffuse large B-cell lymphoma, two were mantle cell lymphoma, one was chronic lymphocytic leukemia/small lymphocytic lymphoma, and one was NHL. Tumors in the aerodigestive tract should be considered in the differential diagnosis of OSAS upon exacerbation of snoring or sudden gasping. Further examinations should be performed, including a routine workup (computed tomography (CT) and magnetic resonance imaging) and positron emission tomography/CT. PMID:25400748

  13. An Uncommon Case of Type III Endoleak Treated with a Custom-made Thoracic Stent Graft.

    PubMed

    Massara, Mafalda; Barillà, David; Franco, Gaetana; Volpe, Alberto; Serra, Raffaele; De Caridi, Giovanni; Alberti, Antonino; Volpe, Pietro

    2016-08-01

    Endovascular aortic repair (EVAR) has been shown to be a valid and minimally invasive alternative to open abdominal aortic aneurysm repair. A major shortcoming for EVAR is the need to submit patients to regular follow-up to detect potential complications such as endoleak, limb occlusion, aneurysm expansion, aneurysm rupture, infection, structural failure, and migration. In this case report, we describe an uncommon case of late type III endoleak due to complete detachment of the stent-graft main body segment from its suprarenal uncovered fixation stent. It was treated with a custom-made Relay(®) NBS Plus (Bolton Medical, Barcelona, Spain) thoracic stent graft which also provided extra suprarenal fixation of the thoracic stent graft in the proximal neck. The postoperative period was uneventful and a computed tomography scan 1 year later revealed proper positioning of the stent graft and no signs of endoleak. The successful strategy chosen to correct this complication was at the same time original and infrequent, and also avoided potential complications related to open surgical repair and general anesthesia. PMID:27263819

  14. Chronic Lyme disease.

    PubMed

    Lantos, Paul M

    2015-06-01

    Chronic Lyme disease is a poorly defined diagnosis that is usually given to patients with prolonged, unexplained symptoms or with alternative medical diagnoses. Data do not support the proposition that chronic, treatment-refractory infection with Borrelia burgdorferi is responsible for the many conditions that get labeled as chronic Lyme disease. Prolonged symptoms after successful treatment of Lyme disease are uncommon, but in rare cases may be severe. Prolonged courses of antibiotics neither prevent nor ameliorate these symptoms and are associated with considerable harm.

  15. Chronic Lyme disease.

    PubMed

    Lantos, Paul M

    2015-06-01

    Chronic Lyme disease is a poorly defined diagnosis that is usually given to patients with prolonged, unexplained symptoms or with alternative medical diagnoses. Data do not support the proposition that chronic, treatment-refractory infection with Borrelia burgdorferi is responsible for the many conditions that get labeled as chronic Lyme disease. Prolonged symptoms after successful treatment of Lyme disease are uncommon, but in rare cases may be severe. Prolonged courses of antibiotics neither prevent nor ameliorate these symptoms and are associated with considerable harm. PMID:25999227

  16. Parkinson's Disease and Cryptogenic Epilepsy.

    PubMed

    Son, Andre Y; Biagioni, Milton C; Kaminski, Dorian; Gurevich, Alec; Stone, Britt; Di Rocco, Alessandro

    2016-01-01

    Epilepsy is an uncommon comorbidity of Parkinson's disease (PD) and has been considered not directly associated with PD. We present five patients (3 men and 2 women; ages 49-85) who had concomitant PD and cryptogenic epilepsy. Although rare, epilepsy can coexist with PD and their coexistence may influence the progression of PD. While this may be a chance association, an evolving understanding of the neurophysiological basis of either disease may suggest a mechanistic association. PMID:27688919

  17. Parkinson's Disease and Cryptogenic Epilepsy

    PubMed Central

    Kaminski, Dorian; Gurevich, Alec; Stone, Britt; Di Rocco, Alessandro

    2016-01-01

    Epilepsy is an uncommon comorbidity of Parkinson's disease (PD) and has been considered not directly associated with PD. We present five patients (3 men and 2 women; ages 49–85) who had concomitant PD and cryptogenic epilepsy. Although rare, epilepsy can coexist with PD and their coexistence may influence the progression of PD. While this may be a chance association, an evolving understanding of the neurophysiological basis of either disease may suggest a mechanistic association. PMID:27688919

  18. Parkinson's Disease and Cryptogenic Epilepsy

    PubMed Central

    Kaminski, Dorian; Gurevich, Alec; Stone, Britt; Di Rocco, Alessandro

    2016-01-01

    Epilepsy is an uncommon comorbidity of Parkinson's disease (PD) and has been considered not directly associated with PD. We present five patients (3 men and 2 women; ages 49–85) who had concomitant PD and cryptogenic epilepsy. Although rare, epilepsy can coexist with PD and their coexistence may influence the progression of PD. While this may be a chance association, an evolving understanding of the neurophysiological basis of either disease may suggest a mechanistic association.

  19. Positioning patients for spine surgery: Avoiding uncommon position-related complications

    PubMed Central

    Kamel, Ihab; Barnette, Rodger

    2014-01-01

    Positioning patients for spine surgery is pivotal for optimal operating conditions and operative-site exposure. During spine surgery, patients are placed in positions that are not physiologic and may lead to complications. Perioperative peripheral nerve injury (PPNI) and postoperative visual loss (POVL) are rare complications related to patient positioning during spine surgery that result in significant patient disability and functional loss. PPNI is usually due to stretch or compression of the peripheral nerve. PPNI may present as a brachial plexus injury or as an isolated injury of single nerve, most commonly the ulnar nerve. Understanding the etiology, mechanism and pattern of injury with each type of nerve injury is important for the prevention of PPNI. Intraoperative neuromonitoring has been used to detect peripheral nerve conduction abnormalities indicating peripheral nerve stress under general anesthesia and to guide modification of the upper extremity position to prevent PPNI. POVL usually results in permanent visual loss. Most cases are associated with prolonged spine procedures in the prone position under general anesthesia. The most common causes of POVL after spine surgery are ischemic optic neuropathy and central retinal artery occlusion. Posterior ischemic optic neuropathy is the most common cause of POVL after spine surgery. It is important for spine surgeons to be aware of POVL and to participate in safe, collaborative perioperative care of spine patients. Proper education of perioperative staff, combined with clear communication and collaboration while positioning patients in the operating room is the best and safest approach. The prevention of uncommon complications of spine surgery depends primarily on identifying high-risk patients, proper positioning and optimal intraoperative management of physiological parameters. Modification of risk factors extrinsic to the patient may help reduce the incidence of PPNI and POVL. PMID:25232519

  20. Systemic inflammatory response due to chloroform intoxication--an uncommon complication.

    PubMed

    Dettling, A; Stadler, K; Eisenbach, C; Skopp, G; Haffner, H T

    2016-03-01

    Well-known adverse effects of chloroform are drowsiness, nausea, and liver damage. Two cases with an uncommon complication due to chloroform intoxication are presented. In the first case, a general physician, because of nausea and dyspnea, admitted a 34-year-old woman to hospital. She developed a toxic pulmonary edema requiring mechanical ventilation for a few days, and a systemic inflammatory response syndrome (SIRS) with elevated white blood cell counts, a moderate increase of C-reactive protein, and slightly elevated procalcitonin levels. There were inflammatory altered skin areas progressing to necrosis later on. However, bacteria could be detected neither in blood culture nor in urine. Traces of chloroform were determined from a blood sample, which was taken 8 h after admission. Later, the husband confessed to the police having injected her chloroform and put a kerchief soaked with chloroform over her nose and mouth. In the second case, a 50-year-old man ingested chloroform in a suicidal attempt. He was found unconscious in his house and referred to a hospital. In the following days, he developed SIRS without growth of bacteria in multiple blood cultures. He died several days after admission due to multi-organ failure. SIRS in response to chloroform is a rare but severe complication clinically mimicking bacterial-induced sepsis. The mechanisms leading to systemic inflammation after chloroform intoxication are currently unclear. Possibly, chloroform and/or its derivates may interact with pattern recognition receptors and activate the same pro-inflammatory mediators (cytokines, interleukins, prostaglandins, leukotrienes) that cause SIRS in bacterial sepsis. PMID:25676899

  1. Ten uncommon and unusual variants of renal angiomyolipoma (AML): radiologic-pathologic correlation.

    PubMed

    Schieda, N; Kielar, A Z; Al Dandan, O; McInnes, M D F; Flood, T A

    2015-02-01

    Classic (triphasic) renal angiomyolipoma (AML) is currently classified as a neoplasm of perivascular epithelioid cells. For diagnosis of AML, the use of thin-section non-contrast enhanced CT (NECT) improves diagnostic accuracy; however, identifying gross fat within a very small AML is challenging and often better performed with chemical-shift MRI. Although the presence of gross intra-tumoural fat is essentially diagnostic of AML; co-existing intra-tumoural fat and calcification may represent renal cell carcinoma (RCC). Differentiating AML from retroperitoneal sarcoma can be difficult when AML is large; the feeding vessel and claw signs are suggestive imaging findings. AML can haemorrhage, with intra-tumoural aneurysm size >5 mm a more specific predictor of future haemorrhage than tumor size >4 cm. Diagnosis of AML in the setting of acute haemorrhage is complex; comparison studies or follow-up imaging may be required. Not all AML contain gross fat and imaging features of AML without visible fat overlap with RCC; however, homogeneity, hyperdensity at NECT, low T2-weighted signal intensity and, microscopic fat are suggestive features. Patients with tuberous sclerosis often demonstrate a combination of classic and minimal fat AML, but are also at a slightly increased risk for RCC and should be imaged cautiously. Several rare pathological variants of AML exist including AML with epithelial cysts and epithelioid AML, which have distinct imaging characteristics. Classic AML, although benign, can be locally invasive and the rare epithelioid AML can be frankly malignant. The purpose of this review is to highlight the imaging manifestations of 10 uncommon and unusual variants of AML using pathological correlation.

  2. Unusual presentation of uncommon disease: anorexia nervosa presenting as wernicke-korsakoff syndrome-a case report from southeast Asia.

    PubMed

    Mushtaq, Raheel; Shoib, Sheikh; Shah, Tabindah; Bhat, Mudasir; Singh, Randhir; Mushtaq, Sahil

    2014-01-01

    Anorexia nervosa presenting as Wernicke-Korsakoff syndrome is rare. The causes of Wernicke-Korsakoff syndrome are multiple like alcohol abuse, thyrotoxicosis, haemodialysis, severe malnutrition because of gastric carcinoma and pyloric obstruction, hyperemesis gravidarum, and prolonged parenteral feeding. We report a case of anorexia nervosa, who presented with Wernicke's encephalopathy and progressed to Korsakoff's syndrome. Knowledge, awareness, and early intervention of anorexia nervosa by mental health professionals can prevent development of Wernicke-Korsakoff syndrome.

  3. Αn uncommon coexistence of primary sexual, cough and exercise headaches: the first three cases from Greece

    PubMed Central

    Bougea, A; Constantinides, V; Anagnostou, E; Kararizou, E

    2015-01-01

    Background: The “other primary headaches” encompasses a group of uncommon but distinct headache disorders. The coexistence of their subforms such as primary sexual and exercise headache is not a new phenomenon, but in association with cough headache is rather uncommon. Report of cases: We report three cases with a rare coexistence of primary cough, exercise and associated with sexual activity headache. Indomethacin was effective in all patients. The leading pathophysiological explanation involves a rapid rise in intra-abdominal pressure exertional factors or an inappropriate reaction in the cerebral vasculature. Conclusions: Further studies are needed to confirm a common pathogenic mechanism in these patients. Τhe coexistence of these headaches needs to be taken into account in the final classification that is expected to be available in 2016. Hippokratia 2015; 19 (4): 369-371.

  4. Orbital solitary fibrous tumor with multinucleate giant cells: case report of an unusual finding in an uncommon tumor.

    PubMed

    Mulay, Kaustubh; Honavar, Santosh G

    2013-01-01

    Solitary fibrous tumor (SFT) is a rare soft-tissue neoplasm which may occur at any site although it is more frequent in the pleura, mediastinum and lung. Orbital involvement by SFT is uncommon. Giant cells are extremely rare to be seen in a SFT and have been described to be immunoreactive for CD34. We present a case of orbital SFT with multinucleate giant cells expressing CD68 and lacking immunoreactivity for CD34. The differential diagnosis is discussed.

  5. The archaeology of uncommon interventions: Articulating the rationale for transcatheter closure of congenital coronary artery fistulas in asymptomatic children.

    PubMed

    McElhinney, Doff B

    2016-02-15

    Transcatheter closure of coronary artery fistulas can be executed successfully in infants and children with few serious procedural complications. Indications for and long-term outcomes of closure of coronary artery fistulas remain poorly defined. Registries may offer the best opportunity for advancing our knowledge about uncommon interventions such as coil or device closure of coronary artery fistulas, but to do so, they must include sufficient data and evaluate factors potentially associated with salutary or adverse outcome.

  6. A Pilot Study of Women’s Affective Responses to Common and Uncommon Forms of Aerobic Exercise

    PubMed Central

    Stevens, Courtney J.; Smith, Jane Ellen; Bryan, Angela D.

    2015-01-01

    Objective To test the extent to which participants exposed to an uncommon versus common exercise stimulus would result in more favourable affect at post task. Design Experimental design. Participants, (N = 120) American women aged 18–45 years, were randomly assigned to complete 30-minutes of either the uncommon (HOOP; n = 58) or common (WALK; n = 62) exercise stimulus. Main Outcome Measures Self-reported affect and intentions for future exercise were measured before and after the 30-minute exercise bout. Results Analyses of covariance (ANCOVA) were run to compare post-task affect across the HOOP and WALK conditions. At post-task, participants assigned to HOOP reported more positively valenced affect, higher ratings of positive activated affect, lower ratings of negative deactivated affect, and stronger intentions for future aerobic exercise compared to participants assigned to WALK. Conclusions Participants who completed an uncommon bout of aerobic exercise (HOOP) reported more favourable affect post-exercise, as well as stronger intentions for future exercise, compared to participants who completed a common bout of aerobic exercise (WALK). Future work using a longitudinal design is needed to understand the relationships between familiarity with an exercise stimulus, affective responses to exercise, motivation for future exercise behaviour, and exercise maintenance over time. PMID:26394246

  7. Whipple's disease

    PubMed Central

    Ratnaike, R.

    2000-01-01

    Whipple's disease is a systemic bacterial infection and the common though not invariable manifestations are diarrhoea, weight loss, abdominal pain, and arthralgia. Arthritis or arthralgia may be the only presenting symptom, predating other manifestations by years. Virtually all organs in the body may be affected, with protean clinical manifestations. Various immunological abnormalities, some of which may be epiphenomena, are described. The causative organism is Tropheryma whippelii.
The disease is uncommon though lethal if not treated. Recent data suggest the disease occurs in an older age group than previously described. The characteristic histopathological features are found most often in the small intestine. These are variable villous atrophy and distension of the normal villous architecture by an infiltrate of foamy macrophages with a coarsely granular cytoplasm, which stain a brilliant magenta colour with PAS. These pathognomonic PAS positive macrophages may also be present in the peripheral and mesenteric lymph nodes and various other organs. The histological differential diagnoses include histoplasmosis and Mycobacterium avium-intercellulare complex.
The clinical diagnosis of Whipple's disease may be elusive, especially if gastrointestinal symptoms are not present. A unique sign of CNS involvement, if present, is oculofacial-skeletal myorhythmia or oculomasticatory myorhythmia, both diagnostic of Whipple's disease. A small bowel biopsy is often diagnostic, though in about 30% of patients no abnormality is present. In patients with only CNS involvement, a stereotactic brain biopsy can be done under local anaesthetic. A recent important diagnostic test is polymerase chain reaction of the 16S ribosomal RNA of Tropheryma whippelii.
Whipple's disease is potentially fatal but responds dramatically to antibiotic treatment. In this review the current recommended treatments are presented. The response to treatment should be monitored closely, as relapses are

  8. Perforated early gastric cancer: uncommon and easily missed a case report and review of literature.

    PubMed

    Lim, Raymond Hon Giat; Tay, Clifton Ming; Wong, Benjamin; Chong, Choon Seng; Kono, Koji; So, Jimmy Bok Yan; Shabbir, Asim

    2013-03-01

    Gastric carcinoma rarely presents as a perforation, but when it does, is perceived as advanced disease. The majority of such perforations are Stage III/IV disease. A T1 gastric carcinoma has never been reported to perforate spontaneously in English literature. We present a 56 year-old Chinese male who presented with a perforated gastric ulcer. Intra-operatively, there was no suspicion of malignancy. At operation, an open omental patch repair was performed. Post-operative endoscopy revealed a macroscopic Type 0~III tumour and from the ulcer edge biopsy was reported as adenocarcinoma. Subsequently, the patient underwent open subtotal gastrectomy and formal D2 lymphadenectomy. The final histopathology report confirms T1b N0 disease. The occurrence of a perforated early gastric cancer re-emphasises the need for vigilance, including intra-operative frozen section and/or biopsy, as well as routine post-operative endoscopy for all patients.

  9. Kimura's disease in Malay patients.

    PubMed

    Shahrul, H; Baharudin, A; Effat, O

    2007-08-01

    Kimura's Disease (KD) is an uncommon, chronic inflammatory disorder of unknown etiology which is endemic in Orientals. It is characterized by painless, large solitary or multiple nodules in subcutis of head and neck region or the major salivary glands, associated with regional lymphadenopathy, blood eosinophilia and elevated IgE levels. Its treatment ranging from conservative observation in asymptomatic patient to surgical resection of the mass, corticotherapy and irradiation therapy for the symptomatic ones.

  10. An experimental and theoretical study to relate uncommon rock/fluid properties to oil recovery. Final report

    SciTech Connect

    Watson, R.

    1995-07-01

    Waterflooding is the most commonly used secondary oil recovery technique. One of the requirements for understanding waterflood performance is a good knowledge of the basic properties of the reservoir rocks. This study is aimed at correlating rock-pore characteristics to oil recovery from various reservoir rock types and incorporating these properties into empirical models for Predicting oil recovery. For that reason, this report deals with the analyses and interpretation of experimental data collected from core floods and correlated against measurements of absolute permeability, porosity. wettability index, mercury porosimetry properties and irreducible water saturation. The results of the radial-core the radial-core and linear-core flow investigations and the other associated experimental analyses are presented and incorporated into empirical models to improve the predictions of oil recovery resulting from waterflooding, for sandstone and limestone reservoirs. For the radial-core case, the standardized regression model selected, based on a subset of the variables, predicted oil recovery by waterflooding with a standard deviation of 7%. For the linear-core case, separate models are developed using common, uncommon and combination of both types of rock properties. It was observed that residual oil saturation and oil recovery are better predicted with the inclusion of both common and uncommon rock/fluid properties into the predictive models.

  11. Epithelioid osteoblastoma of maxilla: A rare and aggressive variant of a benign neoplasm at an uncommon site

    PubMed Central

    Rana, Vandana; Saxena, Vivek; Sahai, Kavita; Singh, Giriraj

    2016-01-01

    Osteoblastoma (OB) is an uncommon benign bone-forming tumor accounting for <1% of all bone neoplasms. Unlike conventional OB, its small subset variant “Epithelioid osteoblastoma (EO)” is characterized by its propensity for local invasion and recurrent behavior. This rare variant of an uncommon tumor when occurs in an atypical site can lead to diagnostic problems more so due to ambiguous clinico-radiologic presentation. This was what faced in the present case of 18-year-old female with a swelling in upper jaw. OB is usually more common in males and involves primarily the posterior element of the spine and the sacrum (40–55%). Less frequently, long bones of limbs are involved. Clinical, radiological and histopathological correlation in this case guided us to reach at right diagnosis of EO which helped the patient in getting correct treatment which involves surgical excision over conventional curettage. The purpose behind this case presentation is to improve the awareness about this recurrent tumor variant which has many close differentials including well-differentiated osteoblastic osteosarcoma. PMID:27601840

  12. Epithelioid osteoblastoma of maxilla: A rare and aggressive variant of a benign neoplasm at an uncommon site.

    PubMed

    Rana, Vandana; Saxena, Vivek; Sahai, Kavita; Singh, Giriraj

    2016-01-01

    Osteoblastoma (OB) is an uncommon benign bone-forming tumor accounting for <1% of all bone neoplasms. Unlike conventional OB, its small subset variant "Epithelioid osteoblastoma (EO)" is characterized by its propensity for local invasion and recurrent behavior. This rare variant of an uncommon tumor when occurs in an atypical site can lead to diagnostic problems more so due to ambiguous clinico-radiologic presentation. This was what faced in the present case of 18-year-old female with a swelling in upper jaw. OB is usually more common in males and involves primarily the posterior element of the spine and the sacrum (40-55%). Less frequently, long bones of limbs are involved. Clinical, radiological and histopathological correlation in this case guided us to reach at right diagnosis of EO which helped the patient in getting correct treatment which involves surgical excision over conventional curettage. The purpose behind this case presentation is to improve the awareness about this recurrent tumor variant which has many close differentials including well-differentiated osteoblastic osteosarcoma. PMID:27601840

  13. Novel Presentation of Uncommon Wrist Injury: Simultaneous Lunate and Perilunate Fracture Dislocation (scapho-capitate Syndrome) of Both Wrists

    PubMed Central

    Bhat, Anil K.; A, Nishanth; Acharya, Ashwath; Kumar, Yogesh

    2016-01-01

    Introduction: Perilunate and lunate dislocations are uncommon high energy injuries and have extensive soft tissue, cartilaginous and bony damage. The most common pattern is trans-scaphoid perilunate fracture dislocation which constitutes approximately 50% of these injuries. Unusual injury pattern like Scaphocapitate syndrome can occur with fracture through scaphoid waist and capitate that rotates the proximal capitate 180° so that its proximal articular surface points distally. With this case report, we would like to present a novel presentation of an uncommon wrist injury. Case report: We present a case of simultaneous lunate dislocation in one wrist and perilunate fracture dislocation (Scapho- capitate syndrome) in the contralateral wrist which occurred simultaneously in a young male following a two wheeler accident. The injury was missed initially at the primary treating centre. Upon diagnosis, the patient underwent open reduction and internal fixation along with ligament repair. The patient was subsequently followed up for a period of four years and was found to have very good clinical and radiological outcome. Conclusion: These injuries occurring simultaneously in contralateral wrists are exceptionally rare and unusual as the mechanisms of injury are different. These are high velocity injuries and are often missed, especially in presence of other major injuries. These high energy injuries need accurate diagnosis, early and aggressive treatment in order to prevent complications PMID:27703938

  14. Epithelioid osteoblastoma of maxilla: A rare and aggressive variant of a benign neoplasm at an uncommon site

    PubMed Central

    Rana, Vandana; Saxena, Vivek; Sahai, Kavita; Singh, Giriraj

    2016-01-01

    Osteoblastoma (OB) is an uncommon benign bone-forming tumor accounting for <1% of all bone neoplasms. Unlike conventional OB, its small subset variant “Epithelioid osteoblastoma (EO)” is characterized by its propensity for local invasion and recurrent behavior. This rare variant of an uncommon tumor when occurs in an atypical site can lead to diagnostic problems more so due to ambiguous clinico-radiologic presentation. This was what faced in the present case of 18-year-old female with a swelling in upper jaw. OB is usually more common in males and involves primarily the posterior element of the spine and the sacrum (40–55%). Less frequently, long bones of limbs are involved. Clinical, radiological and histopathological correlation in this case guided us to reach at right diagnosis of EO which helped the patient in getting correct treatment which involves surgical excision over conventional curettage. The purpose behind this case presentation is to improve the awareness about this recurrent tumor variant which has many close differentials including well-differentiated osteoblastic osteosarcoma.

  15. Biological Effects of Naturally Occurring Sphingolipids, Uncommon Variants, and Their Analogs.

    PubMed

    Lai, Mitchell K P; Chew, Wee Siong; Torta, Federico; Rao, Angad; Harris, Greg L; Chun, Jerold; Herr, Deron R

    2016-09-01

    Sphingolipids (SPs) comprise a highly diverse class of lipids that serve biological roles both as structural components of cell membranes and as mediators of cell signaling. Pharmacologic and genetic manipulation of SPs and their signaling systems have underscored their importance in most biological processes, including central nervous system development and function. Likewise, perturbations of SP accumulation or signaling have been associated with a number of disease states, such as neural tube defects, neuroinflammation, stroke, and dementia. SPs can be endogenously synthesized de novo, and their metabolism is a well-regulated process, so their value as nutraceuticals has not been scrutinized. However, there is evidence that sphingolipid-rich diets can affect lipid homeostasis, and several mycotoxins are SP analogs that are known to cause profound derangement of SP metabolism or signaling. Furthermore, plants and invertebrates have SP species that are not present in mammals. Several of these have been shown to induce biological responses in mammalian cells. These findings suggest that dietary intake of SPs or SP analogs may have significant effects on human health or disease outcome. This manuscript provides an overview of SP metabolism and signaling, their perturbations in neurological diseases, as well as potential impacts of modulating this system in the brain. PMID:27393119

  16. Cervical Castleman disease: CT study with angiographic correlation.

    PubMed

    Koslin, D B; Berland, L L; Sekar, B C

    1986-07-01

    The computed tomographic (CT) appearance, angiographic appearance, and clinical features of a patient with cervical Castleman disease, an uncommon disease of benign lymph node hyperplasia, are reported. CT scans showed a densely enhancing cervical mass. On external carotid angiography, the mass was seen as hypervascular with a capillary blush. Differential diagnosis included carotid body chemodectoma, vagal neuroma, tumor of the salivary gland, tuberculous adenitis and other granulomatous diseases, inflammatory lymph nodes, metastatic disease, and lymphoma.

  17. Uncommon structural motifs dominate the antigen binding site in human autoantibodies reactive with basement membrane collagen.

    PubMed

    Foster, Mary H; Buckley, Elizabeth S; Chen, Benny J; Hwang, Kwan-Ki; Clark, Amy G

    2016-08-01

    Autoantibodies mediate organ destruction in multiple autoimmune diseases, yet their origins in patients remain poorly understood. To probe the genetic origins and structure of disease-associated autoantibodies, we engrafted immunodeficient mice with human CD34+ hematopoietic stem cells and immunized with the non-collagenous-1 (NC1) domain of the alpha3 chain of type IV collagen. This antigen is expressed in lungs and kidneys and is targeted by autoantibodies in anti-glomerular basement membrane (GBM) nephritis and Goodpasture syndrome (GPS), prototypic human organ-specific autoimmune diseases. Using Epstein Barr virus transformation and cell fusion, six human anti-alpha3(IV)NC1 collagen monoclonal autoantibodies (mAb) were recovered, including subsets reactive with human kidney and with epitopes recognized by patients' IgG. Sequence analysis reveals a long to exceptionally long heavy chain complementarity determining region3 (HCDR3), the major site of antigen binding, in all six mAb. Mean HCDR3 length is 25.5 amino acids (range 20-36), generated from inherently long DH and JH genes and extended regions of non-templated N-nucleotides. Long HCDR3 are suited to forming noncontiguous antigen contacts and to binding recessed, immunologically silent epitopes hidden from conventional antibodies, as seen with self-antigen crossreactive broadly neutralizing anti-HIV Ig (bnAb). The anti-alpha3(IV)NC1 collagen mAb also show preferential use of unmutated variable region genes that are enriched among human chronic lymphocytic leukemia antibodies that share features with natural polyreactive Ig. Our findings suggest unexpected relationships between pathogenic anti-collagen Ig, bnAb, and autoreactive Ig associated with malignancy, all of which arise from B cells expressing unconventional structural elements that may require transient escape from tolerance for successful expansion. PMID:27450516

  18. Oral Myiasis Affecting Gingiva in a Child Patient: An Uncommon Case Report

    PubMed Central

    Ali, Fareedi Mukram; Patil, Kishor; Kar, Sanjay; Patil, Atulkumar A.; Ahamed, Shabeer

    2016-01-01

    Certain dipteran flies larvae causing invasion of the tissues and organs of the humans or other vertebrates are called as myiasis, which feed on hosts dead or living tissues. It is well documented in the skin and hot climate regions; underdeveloped countries are affected more commonly. Oral cavity is affected rarely and it can be secondary to serious medical conditions. Poor oral hygiene, alcoholism, senility, or suppurating lesions can be associated with the oral myiasis. Inflammatory and allergic reactions are the commonest clinical manifestations of the disease. In the present case, gingiva of maxillary anterior region was affected by larval infection in a 13-year-old mentally retarded patient. PMID:26881145

  19. [Uncommon mycobacterial infections in domestic and zoo animals: four cases with special emphasis on pathology].

    PubMed

    Steiger, K; Ellenberger, C; Schüppel, K F; Richter, E; Schmerbach, K; Krautwald-Junghanns, M E; Wünnemann, K; Eulenberger, K; Schoon, H A

    2003-09-01

    Infections caused by classical tubercle bacilli are rare during the last years. Nevertheless, diseases caused by other mycobacteria have to be considered clinically and in diagnostic pathology especially in cases of immunosuppression and due to their potential zoonosis risk. An infection by mycobacteria was diagnosed in four animals (Mayotte Maki, Blue-headed Parrot, Patagonian sealion, Beagle) necropsied between 1995 and 2002 in the Institute of Veterinary-Pathology of the University of Leipzig. The Maki, the blue-headed parrot and the dog showed a disseminated character of the disease caused by Mycobacterium genavense (monkey and bird) resp. Mycobacterium avium (dog), while an open chronical tuberculosis of the lungs due to a pathogenic member of Mycobacterium tuberculosis complex was observed in the seal. All these bacteria are potential causes of zoonoses. So, if granulomatous or disseminated histiocytic alterations are detected in diagnostic pathology, mycobacterial infections should always be included in differential diagnoses and require careful aetiological investigations by histopathological and bacteriological methods. PMID:14560447

  20. Green herring syndrome: bacterial infection in patients with mucormycosis cavitary lung disease.

    PubMed

    Peixoto, Driele; Hammond, Sarah P; Issa, Nicolas C; Madan, Rachna; Gill, Ritu R; Milner, Danny A; Colson, Yolonda L; Koo, Sophia; Baden, Lindsey R; Marty, Francisco M

    2014-03-01

    Mucormycosis is a life-threatening fungal disease in patients with hematological malignancies. The diagnosis of pulmonary mucormycosis is particularly challenging. We describe 3 mucormycosis cases with an uncommon presentation in patients whose cavitary lung disease was attributed to well documented bacterial infection, although evolution and reassessment established mucormycosis as the underlying disease. PMID:25734087

  1. Molecular genetics and immunohistochemistry characterization of uncommon and recently described renal cell carcinomas

    PubMed Central

    Rao, Qiu; Xia, Qiu-Yuan; Cheng, Liang

    2016-01-01

    Renal cell carcinoma (RCC) compromises multiple types and has been emerging dramatically over the recent several decades. Advances and consensus have been achieved targeting common RCCs, such as clear cell carcinoma, papillary RCC and chromophobe RCC. Nevertheless, little is known on the characteristics of several newly-identified RCCs, including clear cell (tubulo) papillary RCC, Xp11 translocation RCC, t(6;11) RCC, succinate dehydrogenase (SDH)-deficient RCC, acquired cystic disease-associated RCC, hereditary leiomyomatosis RCC syndrome-associated RCC, ALK translocation RCC, thyroid-like follicular RCC, tubulocystic RCC and hybrid oncocytic/chromophobe tumors (HOCT). In current review, we will collect available literature of these newly-described RCCs, analyze their clinical pathologic characteristics, discuss their morphologic and immunohistologic features, and finally summarize their molecular and genetic evidences. We expect this review would be beneficial for the understanding of RCCs, and eventually promote clinical management strategies. PMID:27041925

  2. 3-Methyl-2-butene-1-thiol: identification, analysis, occurrence and sensory role of an uncommon thiol in wine.

    PubMed

    San-Juan, Felipe; Cacho, Juan; Ferreira, Vicente; Escudero, Ana

    2012-09-15

    A highly uncommon odorant, 3-methyl-2-butene-1-thiol was detected by using Gas Chromatography-Olfactometry (GC-O) and unequivocally identified for the first time in wine. A purge and trap sampling technique which provides highly representative extracts for olfactometric analysis was used for the extraction of the volatile fraction of a Spanish red wine made from Prieto Picudo grapes. The identification of the odorant was achieved by multidimensional gas chromatography analysis of the same purge and trap extract. Mass spectrum and retention indices in both polar and non-polar columns allowed knowing unequivocally the identity. To obtain quantitative data a method was validated for the analysis of the compound at ng L(-1) level with acceptable precision. This powerful odorant presented an odor threshold in wine of 0.5-1 ng L(-1) and it has been detected in several Prieto Picudo wines at concentrations slightly above the odor threshold.

  3. Iliotibial tract friction syndrome in athletes--an uncommon exertion syndrome on the lateral side of the knee.

    PubMed Central

    Orava, S.

    1978-01-01

    An uncommon exertion pain on the lateral side of the knee is described in 88 patients, in four of whom it was bilateral. The disorder is a result of the friction of the iliotibial tract over the lateral femoral epicondyle. The syndrome is the iliotibial tract friction syndrome of ITFS. All the patients in the material were active athletes or middle-aged joggers in regular training. The cases were seen over four years and four months. The mean age of them was approximately 25 years, and there were only nine women in the series. Th pain appeared usually after running and was localised on the outer femoral condyle, and often radiated downwards along the iliotibial tract. Conservative treatment and changes in training habits cured most cases. The disorder has not often been described in the literature, and seems to appear only in physically very active people, such as athletes or military recruits. PMID:687887

  4. The Iron Hill (Powderhorn) Carbonatite Complex, Gunnison County, Colorado - A Potential Source of Several Uncommon Mineral Resources

    USGS Publications Warehouse

    Van Gosen, Bradley S.

    2009-01-01

    A similar version of this slide show was presented on three occasions during 2008: two times to local chapters of the Society for Mining, Metallurgy, and Exploration (SME), as part of SME's Henry Krumb lecture series, and the third time at the Northwest Mining Association's 114th Annual Meeting, held December 1-5, 2008, in Sparks (Reno), Nevada. In 2006, the U.S. Geological Survey (USGS) initiated a study of the diverse and uncommon mineral resources associated with carbonatites and associated alkaline igneous rocks. Most of these deposit types have not been studied by the USGS during the last 25 years, and many of these mineral resources have important applications in modern technology. The author chose to begin this study at Iron Hill in southwestern Colorado because it is the site of a classic carbonatite complex, which is thought to host the largest known resources of titanium and niobium in the United States.

  5. Common and Uncommon Anatomical Variants of Intrahepatic Bile Ducts in Magnetic Resonance Cholangiopancreatography and its Clinical Implication

    PubMed Central

    Sarawagi, Radha; Sundar, Shyam; Raghuvanshi, Sameer; Gupta, Sanjeev Kumar; Jayaraman, Gopal

    2016-01-01

    Summary Background Preoperative knowledge of intrahepatic bile duct (IHD) anatomy is critical for planning liver resections, liver transplantations and complex biliary reconstructive surgery. The purpose of our study was to demonstrate the imaging features of various anatomical variants of IHD using magnetic resonance cholangio-pancreatography (MRCP) and their prevalence in our population. Material/Methods This observational clinical evaluation study included 224 patients who were referred for MRCP. MRCP was performed in a 1.5-Tesla magnet (Philips) with SSH MRCP 3DHR and SSHMRCP rad protocol. A senior radiologist assessed the biliary passage for anatomical variations. Results The branching pattern of the right hepatic duct (RHD) was typical in 55.3% of subjects. The most common variant was right posterior sectoral duct (RPSD) draining into the left hepatic duct (LHD) in 27.6% of subjects. Trifurcation pattern was noted in 9.3% of subjects. In 4% of subjects, RPSD was draining into the common hepatic duct (CHD) and in 0.8% of subjects into the cystic duct. Other variants were noted in 2.6% of subjects. In 4.9% of cases there was an accessory duct. The most common type of LHD branching pattern was a common trunk of segment 2 and 3 ducts joining the segment 4 duct in 67.8% of subjects. In 23.2% of subjects, segment 2 duct united with the common trunk of segment 3 and 4 and in 3.4% of subjects segment 2, 3, and 4 ducts united together to form LHD. Other uncommon branching patterns of LHD were seen in 4.9% of subjects. Conclusions Intrahepatic bile duct anatomy is complex with many common and uncommon variations. MRCP is a reliable non-invasive imaging method for demonstration of bile duct morphology, which is useful to plan complex surgeries and to prevent iatrogenic injuries. PMID:27298653

  6. An uncommon presentation of eosinophilic granulomatosis with polyangiitis: a case report

    PubMed Central

    2014-01-01

    Introduction Eosinophilic granulomatosis with polyangiitis is a rare and potentially fatal disease if not readily diagnosed. Cerebral involvement is extremely rare and clinical presentation as hemorrhagic stroke is even rarer. Case presentation A 58-year-old Caucasian man was admitted to our medical unit because of a computed tomography-diagnosed hemorrhagic stroke with right-sided hemiparesis and fever. A chest computed tomography scan also revealed multiple bilateral pulmonary infiltrates; coronary artery, and carotid and left vertebral artery calcifications were also observed. Empiric antimicrobial therapy with cephalosporins was promptly undertaken; low-molecular-weight heparin was introduced as prophylaxis for venous thromboembolism. Over the following days, magnetic resonance imaging scans showed a regression of the hemorrhagic framework, also revealing hypoxic areas consistent with acute ischemic lesions. With a computed tomography scan showing a worsening of his pulmonary framework, antimicrobial therapy was modified and corticosteroids were introduced. A new blood cell count revealed further increased leukocytosis (17.49×103μL), characterized by a surprising rise of eosinophilic cells (32.8%). Angiography of the coronary arteries found diffuse dilatations with severe signs of endothelial damage. Such an unexpected framework induced a strong suspicion that the stroke was the expression of a systemic vasculitis, which had triggered his cerebral, coronary, and pulmonary frameworks. The search for antineutrophil cytoplasmic antibody was positive for perinuclear antineutrophil cytoplasmic antibody, and eosinophilic granulomatosis with polyangiitis was diagnosed. Explaining to the patient the rarity of his disease, and what the most typical presentations of eosinophilic granulomatosis with polyangiitis were, he revealed that before admission he had had scalp injuries, in the nuchal region, and had taken corticosteroids as self-medication, with subsequent

  7. Solitary fibrous tumor of the pelvis: an uncommon soft-tissue tumor. A case report.

    PubMed

    Pata, Francesco; Orsini, Vincenzo; Lucisano, Ada Maria; Pafundi, Donato Paolo; Sacco, Rosario

    2010-01-01

    A rare case of Solitary fibrous tumor (SFT) of the pelvis is reported. A 76-years-old man presented with a low abdominal pain, acute urine retention and constipation. Imaging studies (US, CT MR) showed an 17 x 10 x 9 ovoid mass in the pelvis, dislocating bladder and rectum. Finally, trans-rectal needle biopsy suggested the diagnosis of SFT. En bloc excision of tumor and rectum (because of strong adhesions) was performed. Histological examination showed spindle and fibroblastic-like cells dispersed in collagenous areas with positive stains for CD34, bcl-2, CD99 and it confirmed diagnosis of SFT. No postoperative complications occurred, only vesico-sphincter dyssynergia was found by urodynamics. After 5 years, patient is disease-free. SFT is, usually, benign tumor with slow growth and excellent prognosis. Complete surgical resection is the only curative treatment. However, 10-15% of SFT are malignant and histological findings cannot always predict clinical behaviour. For this reason, careful and long term follow-up is necessary after surgery.

  8. Kallmann syndrome and deafness: an uncommon combination: A case report and a literature review

    PubMed Central

    Salama, Nader

    2016-01-01

    Background: Kallmann syndrome (Kal S) is an isolated form of hypogonadotrophic hypogonadism in combination with a defect in smell sensation. Depending on the genetic form of the disease, a number of non-reproductive, non-olfactory abnormalities may also be existent. In the present report, we describe a male with Kal S associated with hearing loss, and the successful treatment of his sexual and reproductive defects. Case: A 23-year-old Caucasian man presented with a lifelong lack of erection and ejaculation. The patient reported also anosmia combined with loss of hearing ability. A diagnostic work-up identified the presence of Kal S associated with sensorineural hearing loss. Administration of gonadotrophins regained the erection and a viable-sperm containing ejaculation. Conclusion: Lack of erection and ejaculation are important components of delayed puberty which could lead to diagnosis of Kal S. The existence of a hearing impairment in the reported patient makes the recommendation to screen the hearing ability in Kal S of utmost importance. PMID:27679830

  9. Thoracic Kyphosis is Now Uncommon Amongst Children and Adolescents with Cystic Fibrosis.

    PubMed

    Barker, Nicki; Raghavan, Ashok; Buttling, Pauline; Douros, Kostas; Everard, Mark Lloyd

    2014-01-01

    Historically, thoracic kyphosis has been reported to be common amongst patients with cystic fibrosis (CF). The mechanisms leading to the development of this abnormality of the chest wall are not fully understood. In order to explore the prevalence of the condition amongst children with CF in the early twenty-first century and to explore factors that might be contributing to its development, a retrospective cross sectional study was undertaken in a regional CF unit. Data were obtained from 74 children with CF aged 8-16 years attending for their annual review. Thoracic kyphosis was measured from lateral chest X-ray using an alternative Cobb method. Lung function, disease severity, and nutritional status were also recorded. Correlations between measures were explored using a multiple linear regression model. The range of Cobb angles measured was 5.4-44.3° with thoracic kyphosis identified in only two subjects. There was no correlation between age and thoracic kyphosis, however, there was a significant correlation between lung function and thoracic kyphosis (p = 0.004). Regression coefficient (b) was -0.26 (95% CI: -0.44, -0.08). The prevalence of thoracic kyphosis is significantly less amongst children with CF than previously reported. This appears likely to be associated with the overall improvements in pulmonary status. Studies of older populations may bring further understanding of increasing thoracic kyphosis in people with CF. PMID:24596827

  10. Subserous lymphangioma of the sigmoid colon: an uncommon cause of acute abdomen in pediatric patients

    PubMed Central

    Fernandes, Bianca Furlan; Moraes, Érika Neves de Souza; de Oliveira, Francini Rossetto; Felipe-Silva, Aloísio; Ferreira, Cristiane Rúbia; de Alcântara, Paulo Sérgio Martins; Tokeshi, Flavio; Martinês, João Augusto dos Santos; Ferronato, Ângela Espósito

    2015-01-01

    Lymphangioma is a rare, benign lesion derived from a malformation of the lymphatic system, which is more frequently found in the head, neck, and axilla. However, it may be present anywhere in the body, and the diagnosis involves adults as children with some distinct clinical features among them. In pediatric patients, abdominal cystic lymphangioma occurs mostly in the mesentery presenting abdominal pain, intestinal obstruction, or, more rarely, hemorrhage. The authors report the case of a child with a short-course history of fever, abdominal pain, and constipation. The physical examination disclosed the presence of an abdominal mass and signs of peritoneal irritation. Imaging was consistent with a cystic lesion compressing the sigmoid colon and laterally displacing the remaining loops. Exploratory laparotomy was undertaken, and a sigmoidectomy, followed by Hartman’s colostomy, was performed. Histological examination revealed the nature of the lesion as a cystic lymphangioma. The authors highlight the clinical features of this entity and call attention to this disease in the differential diagnosis of acute abdomen or abdominal pain, mainly in pediatric patients. PMID:26894047

  11. Kallmann syndrome and deafness: an uncommon combination: A case report and a literature review

    PubMed Central

    Salama, Nader

    2016-01-01

    Background: Kallmann syndrome (Kal S) is an isolated form of hypogonadotrophic hypogonadism in combination with a defect in smell sensation. Depending on the genetic form of the disease, a number of non-reproductive, non-olfactory abnormalities may also be existent. In the present report, we describe a male with Kal S associated with hearing loss, and the successful treatment of his sexual and reproductive defects. Case: A 23-year-old Caucasian man presented with a lifelong lack of erection and ejaculation. The patient reported also anosmia combined with loss of hearing ability. A diagnostic work-up identified the presence of Kal S associated with sensorineural hearing loss. Administration of gonadotrophins regained the erection and a viable-sperm containing ejaculation. Conclusion: Lack of erection and ejaculation are important components of delayed puberty which could lead to diagnosis of Kal S. The existence of a hearing impairment in the reported patient makes the recommendation to screen the hearing ability in Kal S of utmost importance.

  12. Osteopetrosis (Marble Bone Disease): A Rare Disease in Children

    PubMed Central

    2011-01-01

    Osteopetrosis is a group of diseases that affects the growth and remodeling of bone and characterized by over growth and sclerosis of bone, with thickening of the bony cortices, abnormal dental development and narrowing of the marrow cavities throughout the skeleton. It is an uncommon disease of unknown cause. A 5-year-old boy was suffering from infantile (severe form) osteopetrosis with cardiac enlargement, severe anemia, hepatosplenomagaly and radiographs showed generalized increase in bone density (chalky white), narrowing of skull base is reported here.

  13. Grave's Disease and Primary Biliary Cirrhosis-An Unusual and Challenging Association.

    PubMed

    Shetty, Shiran; Rajasekaran, Senthilkumar; Venkatakrishnan, Leela

    2014-03-01

    Jaundice in Grave's diseases is uncommon, but when it does occur, complication of thyrotoxicosis (heart failure/infection) or intrinsic liver disease should be considered. Grave's disease can cause asymptomatic elevation of liver enzymes, jaundice and rarely acute liver failure. It is associated with other autoimmune diseases like autoimmune hepatitis, or primary biliary cirrhosis. The cause of jaundice in Grave's disease is multifactorial. PMID:25755537

  14. Grave's Disease and Primary Biliary Cirrhosis—An Unusual and Challenging Association

    PubMed Central

    Shetty, Shiran; Rajasekaran, Senthilkumar; Venkatakrishnan, Leela

    2013-01-01

    Jaundice in Grave's diseases is uncommon, but when it does occur, complication of thyrotoxicosis (heart failure/infection) or intrinsic liver disease should be considered. Grave's disease can cause asymptomatic elevation of liver enzymes, jaundice and rarely acute liver failure. It is associated with other autoimmune diseases like autoimmune hepatitis, or primary biliary cirrhosis. The cause of jaundice in Grave's disease is multifactorial. PMID:25755537

  15. Neuropathology of Alzheimer's disease.

    PubMed

    Perl, Daniel P

    2010-01-01

    Alois Alzheimer first pointed out that the disease which would later bear his name has a distinct and recognizable neuropathological substrate. Since then, much has been added to our understanding of the pathological lesions associated with the condition. The 2 primary cardinal lesions associated with Alzheimer's disease are the neurofibrillary tangle and the senile plaque. The neurofibrillary tangle consists of abnormal accumulations of abnormally phosphorylated tau within the perikaryal cytoplasm of certain neurons. The senile plaque consists of a central core of beta-amyloid, a 4-kD peptide, surrounded by abnormally configured neuronal processes or neurites. Other neuropathological lesions are encountered in cases of Alzheimer's disease, but the disease is defined and recognized by these 2 cardinal lesions. Other lesions include poorly understood changes such as granulovacuolar degeneration and eosinophilic rodlike bodies (Hirano bodies). The loss of synaptic components is a change that clearly has a significant impact on cognitive function and represents another important morphological alteration. It is important to recognize that distinguishing between Alzheimer's disease, especially in its early stages, and normal aging may be very difficult, particularly if one is examining the brains of patients who died at an advanced old age. It is also noted that instances of pure forms of Alzheimer's disease, in the absence of other coexistent brain disease processes, such as infarctions or Parkinson's disease-related lesions, are relatively uncommon, and this must be taken into account by researchers who employ postmortem brain tissues for research.

  16. Uncommon or cryptic? Challenges in estimating leopard seal abundance by conventional but state-of-the-art methods

    NASA Astrophysics Data System (ADS)

    Southwell, Colin; Paxton, Charles G. M.; Borchers, David; Boveng, Peter; Rogers, Tracey; de la Mare, William K.

    2008-04-01

    The method traditionally used to estimate pack-ice seal abundance employs sighting surveys from ships or aircraft to estimate the number of seals hauled out on the ice, combined with studies of haul-out behaviour to estimate the proportion of time spent on the ice. Application of this approach has been improved in recent times by developments in survey methodology and satellite technology that theoretically allow biases in the estimation of hauled-out abundance and haul-out behaviour to be accounted for that previously could not be addressed. A survey using these conventional but state-of-the-art methods was undertaken in the summer of 1999/2000 off east Antarctica between longitudes 64°E and 150°E to estimate the abundance of leopard ( Hydrurga leptonyx) and other pack-ice seal species. Because they are either uncommon or very cryptic, very few leopard seals were encountered despite a large survey effort. This presented challenges in both application of the methods and analysis of the data. Abundance estimates were derived using a number of plausible predictive models. The model considered as the most reliable returned best estimates of 7300 and 12,100 for definite and definite plus probable leopard seal sightings, respectively, with 95% confidence intervals of 3700-14,500 and 7100-23,400. These estimates are likely to be negatively biased and should be treated as minimum estimates only.

  17. Rectal ulcer with an elusive diagnosis: all that ulcers is not Crohn disease

    Technology Transfer Automated Retrieval System (TEKTRAN)

    A single rectal ulcer is an uncommon finding in children with gastrointestinal disease. Although inflammatory bowel disease (IBD) is foremost among the differential diagnoses, a primary immunological defect should not be forgotten. Because of the paucity of literature on the association of rectal ul...

  18. Dengue eye disease.

    PubMed

    Ng, Aaron W; Teoh, Stephen C

    2015-01-01

    Dengue fever, a viral disease epidemic in some parts of the world, is of considerable international concern, with a growing incidence owing to developing urbanization, tourism, and trade. Ocular manifestations of dengue fever are uncommon, but of great significance. Proposed mechanisms include direct viral infection as well as immunologic phenomena. Common manifestations include subconjunctival, vitreous, and retinal hemorrhages; posterior uveitis; optic neuritis; and maculopathies such as foveolitis, hemorrhage, and edema. Main symptoms include blurring of vision, scotomata, metamorphopsia, and floaters. Diagnostic and monitoring investigations described included optical coherence tomography, fundus fluorescein and indocyanine green angiography, visual field analysis, and electrophysiologic tests. Management is based on clinical presentation and includes active surveillance as well as various anti-inflammatory and immunosuppressive therapies. There have been no prospective, randomized therapeutic trials, and it is unclear if the disease is self-limiting or if treatment is actually beneficial. Prognosis varies, ranging from full resolution to permanent vision loss despite intervention.

  19. Outbreak of Uncommon O4 Non-Agglutinating Salmonella Typhimurium Linked to Minced Pork, Saxony-Anhalt, Germany, January to April 2013

    PubMed Central

    Helmeke, Carina; Kohlstock, Claudia; Prager, Rita; Tietze, Erhard; Rabsch, Wolfgang; Karagiannis, Ioannis; Werber, Dirk; Frank, Christina; Fruth, Angelika

    2015-01-01

    Introduction In January 2013, the National Reference Centre for Salmonella (NRC) detected a salmonellosis cluster in Saxony-Anhalt, Germany, caused by uncommon O4 non-agglutinating, monophasic Salmonella (S.) Typhimurium DT193. Circulating predominant monophasic S. Typhimurium DT193 clones typically display resistance phenotype ASSuT. We investigated common exposures to control the outbreak, and conducted microbiological investigations to assess the strains’ phenotype. Methods We conducted a case-control study defining cases as persons living or working in Saxony-Anhalt diagnosed with the O4 non-agglutinating strain between January and March 2013. We selected two controls contemporarily reported with norovirus infection, frequency-matched on residence and age group, per case. We interviewed regarding food consumption, especially pork and its place of purchase. We calculated odds ratios (ORs) with 95% confidence intervals (95% CI) using logistic regression. The NRC investigated human and food isolates by PCR, SDS-PAGE, MLST, PFGE, MLVA and susceptibility testing. Results Altogether, 68 O4 non-agglutinating human isolates were confirmed between January and April 2013. Of those, 61 were assigned to the outbreak (median age 57 years, 44% female); 83% cases ≥ 60 years were hospitalized. Eating raw minced pork from butcheries within 3 days was associated with disease (31 cases, 28 controls; OR adjusted for sex: 3.6; 95% CI: 1.0-13). Phage type DT193 and MLST ST34 were assigned, and isolates’ lipopolysaccharide (LPS) matched control strains. Isolates linked to Saxony-Anhalt exhibited PFGE type 5. ASSuT- and ACSSuT phenotype proportions were 34 and 39% respectively; 54% were resistant to chloramphenicol. Three pork isolates matched the outbreak strain. Discussion Raw minced pork was the most likely infection vehicle in this first reported outbreak caused by O4 non-agglutinating, mostly chloramphenicol-resistant S. Typhimurium DT193. High hospitalization proportions

  20. An Uncommon Cottage

    ERIC Educational Resources Information Center

    Carlson, Scott

    2008-01-01

    This article features the Cliffs Cottage, a "showcase home" at Furman University which demonstrates the use of green technology in residential building and teaches about sustainability. Custom-built for the shelter-magazine dreams of "Southern Living," a sponsor of the home, the house seems better suited for a tony subdivision. The Cliffs Cottage…

  1. The University's Uncommon Community

    ERIC Educational Resources Information Center

    Harris, Suzy

    2012-01-01

    In the UK, as elsewhere in the world, the global financial crisis has focused attention on the cost of public services and the need to reduce expenditure, not least in respect of higher education. This, however, raises a set of prior questions: What kind of society do we want? What is important to democratic society? What kind of higher education…

  2. The Uncommon Core

    ERIC Educational Resources Information Center

    Ohler, Jason

    2013-01-01

    This author contends that the United States neglects creativity in its education system. To see this, he states, one may look at the Common Core State Standards. If one searches the English Language Arts and Literacy standards for the words "creative," "innovative," and "original"--and any associated terms, one will find scant mention of the words…

  3. THE UNCOMMON SCHOOL.

    ERIC Educational Resources Information Center

    HOULE, CYRIL O.

    IN THIS ADDRESS CYRIL O. HOULE SPOKE ON AN EPISODE IN THE HISTORY OF ADULT EDUCATION, FOCUSING PARTICULARLY ON THE LIFE AND IDEAS OF HENRY D. THOREAU. HE DISCUSSED JOSIAH HOLBROOK, A CONNECTICUT SCHOOLMASTER, AND CREATED AN AMERICAN LYCEUM, NATIONWIDE IN ITS SCOPE, LINKING TOGETHER ALL THOUGHTFUL AND CULTIVATED MEN IN THE CONTINUING PURSUIT OF…

  4. Coexistence of granulomatosis with polyangiitis (GPA) and Crohn's disease or multiorgan manifestation of the same disease?

    PubMed

    Jóźwiak, Lucyna; Ławnicka, Izabela; Książek, Andrzej

    2016-01-01

    Granulomatosis with polyangiitis (GPA) is a systemic necrotizing vasculitis of unknown aetiology, often related to the antineutrophil cytoplasmic antibody (ANCA). GPA was previously named Wegener's granulomatosis (WG). The disease frequently has multisystemic presentation, targeting mainly the respiratory tract and kidneys, but gastrointestinal involvement is uncommon. Crohn's disease (CD) is an inflammatory bowel disease (IBD) with many extraintestinal manifestations. Clinically, symptoms of WG and CD can mimic each other. In this paper a case of GPA manifested initially by severe multiorgan damage including colitis, regarded to be coexistent CD, is presented. The case illustrates the difficulties in establishing the diagnosis when symptoms of the diseases mimic each other. PMID:27407286

  5. Melanized Fungi in Human Disease

    PubMed Central

    Revankar, Sanjay G.; Sutton, Deanna A.

    2010-01-01

    Summary: Melanized or dematiaceous fungi are associated with a wide variety of infectious syndromes. Many are soil organisms and are generally distributed worldwide, though certain species appear to have restricted geographic ranges. Though they are uncommon causes of disease, melanized fungi have been increasingly recognized as important pathogens, with most reports occurring in the past 20 years. The spectrum of diseases with which they are associated has also broadened and includes allergic disease, superficial and deep local infections, pneumonia, brain abscess, and disseminated infection. For some infections in immunocompetent individuals, such as allergic fungal sinusitis and brain abscess, they are among the most common etiologic fungi. Melanin is a likely virulence factor for these fungi. Diagnosis relies on careful microscopic and pathological examination, as well as clinical assessment of the patient, as these fungi are often considered contaminants. Therapy varies depending upon the clinical syndrome. Local infection may be cured with excision alone, while systemic disease is often refractory to therapy. Triazoles such as voriconazole, posaconazole, and itraconazole have the most consistent in vitro activity. Further studies are needed to better understand the pathogenesis and optimal treatment of these uncommon infections. PMID:20930077

  6. An isolated orbital mass with proptosis and diplopia: an uncommon metastasis from intracranial olfactory neuroblastoma in a chinese patient

    PubMed Central

    Shen, Jianqin; Cui, Hongguang; Feng, Shi

    2016-01-01

    Purpose Olfactory neuroblastoma (ONB) is a rare neuroectodermal malignant neoplasm that originates from the olfactory sensory epithelium. In reported cases involving the orbit, the primary neoplasms could invade the orbits through bone destruction or cranio-orbital communication anatomical structure. The present study reports a rare case of orbital metastatic tumor arising from an intracranial ONB in a Chinese patient, which is the first case demonstrating an uncommon route of ONB involving the orbit. Patient and methods A 62-year-old man with a right orbital tumor was diagnosed as having a secondary tumor arising from intracranial ONB. Clinical examination, including ocular imaging examination, and histopathological and immunohistochemical studies were performed. Results In the ocular examination, a focal, firm, nontender swelling with ill-defined margins in the right orbit was found on palpation. Proptosis, limited eyeball movement, and visual loss were also observed. The unenhanced computed tomography scan showed a homogeneous, isolated, ill-defined soft tissue neoplasm in the right orbit. The histopathological study revealed irregularly shaped nests of tumor cells surrounded by avascularized fibrous stroma. The monomorphic malignant tumor cells are small round blue cells that are slightly larger than mature lymphocytes, with a very high nuclear to cytoplasmic ratio. The immunohistochemical staining for tumor cells was positive for synaptophysin, chromogranin A, cluster of differentiation 56 (CD56), cytokeratin, vimentin, S-100 protein, and negative for epithelial membrane antigen, and cluster of differentiation (CD99). Conclusion This is so far the first Chinese case of orbital metastasis from intracranial ONB that has ever been reported. Metastasis might be another route of ONB invading the orbit besides direct invasion.

  7. Genomic characterization of uncommon human G3P[6] rotavirus strains causing diarrhea in children in Italy in 2009.

    PubMed

    Ianiro, Giovanni; Delogu, Roberto; Fiore, Lucia; Ruggeri, Franco M

    2015-07-01

    Group A rotaviruses (RVA) are the leading cause of acute gastroenteritis in young children, causing up to 450,000 deaths worldwide, mostly in developing countries. Most of RVA human infections in developed countries are related to five major G/P combinations: G1P[8], G2P[4], G3P[8], G4P[8] and G9P[8]. During the surveillance activity of RotaNet-Italy, three uncommon G3P[6] RVA strains, designated as RVA/Human-wt/ITA/NA01/2009/G3P[6], RVA/Human-wt/ITA/NA06/2009/G3P[6], and RVA/Human-wt/ITA/NA19/2009/G3P[6], were identified in the stools of children with diarrhea hospitalized in Southern Italy in 2009. Samples NA01, NA06 and NA19 were characterized as genotype G3P[6]. To investigate the three strains further, partial sequencing of the eleven genomic segments was performed. RVA strains NA01, NA06 and NA19 were found to share the rare genotype constellation: G3-P[6]-I2-R2-C2-M2-A2-N2-T2-E2-H2, which had not been reported previously in continental Italy. The phylogenetic analysis of the eleven genomic segments showed no evidence of zoonosis or inter-species reassortment at the origin of the Italian G3P[6] strains, indicating that they possessed DS-1-like genomic constellations similar to those detected previously in human cases in Africa and Europe. The analysis of the hypervariable regions of VP7 and VP4 (VP8*) revealed high amino acid identity between the Italian G3P[6] RVA strains involved in this study.

  8. Mitogenomes from Two Uncommon Haplogroups Mark Late Glacial/Postglacial Expansions from the Near East and Neolithic Dispersals within Europe

    PubMed Central

    Olivieri, Anna; Pala, Maria; Gandini, Francesca; Kashani, Baharak Hooshiar; Perego, Ugo A.; Woodward, Scott R.; Grugni, Viola; Battaglia, Vincenza; Semino, Ornella; Achilli, Alessandro; Richards, Martin B.; Torroni, Antonio

    2013-01-01

    The current human mitochondrial (mtDNA) phylogeny does not equally represent all human populations but is biased in favour of representatives originally from north and central Europe. This especially affects the phylogeny of some uncommon West Eurasian haplogroups, including I and W, whose southern European and Near Eastern components are very poorly represented, suggesting that extensive hidden phylogenetic substructure remains to be uncovered. This study expanded and re-analysed the available datasets of I and W complete mtDNA genomes, reaching a comprehensive 419 mitogenomes, and searched for precise correlations between the ages and geographical distributions of their numerous newly identified subclades with events of human dispersal which contributed to the genetic formation of modern Europeans. Our results showed that haplogroups I (within N1a1b) and W originated in the Near East during the Last Glacial Maximum or pre-warming period (the period of gradual warming between the end of the LGM, ∼19 ky ago, and the beginning of the first main warming phase, ∼15 ky ago) and, like the much more common haplogroups J and T, may have been involved in Late Glacial expansions starting from the Near East. Thus our data contribute to a better definition of the Late and postglacial re-peopling of Europe, providing further evidence for the scenario that major population expansions started after the Last Glacial Maximum but before Neolithic times, but also evidencing traces of diffusion events in several I and W subclades dating to the European Neolithic and restricted to Europe. PMID:23936216

  9. An isolated orbital mass with proptosis and diplopia: an uncommon metastasis from intracranial olfactory neuroblastoma in a chinese patient

    PubMed Central

    Shen, Jianqin; Cui, Hongguang; Feng, Shi

    2016-01-01

    Purpose Olfactory neuroblastoma (ONB) is a rare neuroectodermal malignant neoplasm that originates from the olfactory sensory epithelium. In reported cases involving the orbit, the primary neoplasms could invade the orbits through bone destruction or cranio-orbital communication anatomical structure. The present study reports a rare case of orbital metastatic tumor arising from an intracranial ONB in a Chinese patient, which is the first case demonstrating an uncommon route of ONB involving the orbit. Patient and methods A 62-year-old man with a right orbital tumor was diagnosed as having a secondary tumor arising from intracranial ONB. Clinical examination, including ocular imaging examination, and histopathological and immunohistochemical studies were performed. Results In the ocular examination, a focal, firm, nontender swelling with ill-defined margins in the right orbit was found on palpation. Proptosis, limited eyeball movement, and visual loss were also observed. The unenhanced computed tomography scan showed a homogeneous, isolated, ill-defined soft tissue neoplasm in the right orbit. The histopathological study revealed irregularly shaped nests of tumor cells surrounded by avascularized fibrous stroma. The monomorphic malignant tumor cells are small round blue cells that are slightly larger than mature lymphocytes, with a very high nuclear to cytoplasmic ratio. The immunohistochemical staining for tumor cells was positive for synaptophysin, chromogranin A, cluster of differentiation 56 (CD56), cytokeratin, vimentin, S-100 protein, and negative for epithelial membrane antigen, and cluster of differentiation (CD99). Conclusion This is so far the first Chinese case of orbital metastasis from intracranial ONB that has ever been reported. Metastasis might be another route of ONB invading the orbit besides direct invasion. PMID:27601919

  10. Brain Tumours Simulating Psychiatric Disease

    PubMed Central

    Hobbs, G. E.

    1963-01-01

    Brain tumours may present with symptoms indistinguishable from psychiatric disease. The impression of most psychiatrists is that individuals suffering from brain tumour rarely appear among their patients. A priori reasoning based on evidence from neurological, neurosurgical and pathological sources suggests the contrary. The present study is a frequency analysis of cases of previously undiagnosed brain tumours admitted to either an open psychoneurotic ward or a mental hospital over a period of 15 years. The results support the impression held by psychiatrists that brain tumours are uncommon among psychiatric patients. PMID:13954870

  11. Relevance of computed tomography and magnetic resonance imaging for penile metastasis after prostatectomy: uncommon case report and brief review of the literature.

    PubMed

    Fiaschetti, Valeria; Liberto, Valeria; Claroni, Giulia; Loreni, Giorgio; Formica, Vincenzo; Roselli, Mario; Mauriello, Alessandro; Floris, Roberto

    2016-09-01

    Penile metastasis from prostate cancer represents a rare condition, associated with poor prognosis. In the literature, authors have reported less than 500 cases of secondary penile cancers, and among these cases of metastases, only 33% are from prostate cancer. Overall reported rate of survival is about 1-24 months. Here, we present an uncommon case of penile metastasis from prostatic adenocarcinoma, with particular focus on the role of computed tomography and magnetic resonance imaging in diagnosis and follow-up. PMID:27594962

  12. Spontaneous hyphema in an infant with Christmas disease.

    PubMed

    Ghose, S; Kishore, K; Patil, N D; Saxena, R

    1993-02-01

    A 4-month-old boy presented with an apparently spontaneous uniocular hyphema as the initial manifestation of Christmas disease (hemophilia B). Although it is uncommon for patients with hemophilia to experience major bleeds in infancy, and the ocular involvement is usually limited to periocular hemorrhages, we recommend that a coagulation profile be obtained in all patients with intraocular hemorrhage to rule out this disease.

  13. An unusual cause of pancytopenia: Whipple's disease

    PubMed Central

    Tun, Nay T.; Shukla, Shwetanshu; Krishnakurup, Jaykrishnan; Pappachen, Binu; Krishnamurthy, Mahesh; Salib, Hayman

    2014-01-01

    Whipple's disease is a systemic infectious disease caused by the bacteria Tropheryma whipplei. The most common clinical manifestations of Whipple's disease are weight loss (92%), hypoalbuminemia and steatorrhea (91%, respectively), diarrhea (72%), arthralgia (67%), and abdominal pain (55%). Neurological signs and symptoms from dementia to oculomasticatory myorhythmia or oculofacioskeletal myorhythmia (pathognomonic of Whipple's disease), lymphadenopathy, and fatigue can also be present. Pancytopenia is a rare and less recognized clinical feature in Whipple's disease patients. We are describing a case where a middle-aged Caucasian male diagnosed with Whipple's disease was found to have pancytopenia. Etiology of pancytopenia is postulated to be due to the invasion of bone marrow by T. whipplei. It is important to recognize that bone marrow involvement by the Whipple bacillus is not uncommon. In the presence of lymphadenopathy and pancytopenia, clinicians should think of Whipple's disease as a differential diagnosis apart from lymphoma or other non-specific granulomatous reticuloendothelial disorders. PMID:24765256

  14. Francisella philomiragia Bacteremia in a Patient with Acute Respiratory Insufficiency and Acute-on-Chronic Kidney Disease

    PubMed Central

    Humphries, Romney M.; Mattison, H. Reid; Miles, Jessica E.; Simpson, Edward R.; Corbett, Ian J.; Schmitt, Bryan H.; May, M.

    2015-01-01

    Francisella philomiragia is a very uncommon pathogen of humans. Diseases caused by it are protean and have been reported largely in near-drowning victims and those with chronic granulomatous disease. We present a case of F. philomiragia pneumonia with peripheral edema and bacteremia in a renal transplant patient and review the diverse reports of F. philomiragia infections. PMID:26400786

  15. Atypical presentation of Wilson disease.

    PubMed

    Wadera, Sheetal; Magid, Margret S; McOmber, Mark; Carpentieri, David; Miloh, Tamir

    2011-08-01

    A 15-year-old Caucasian female on human chorionic gonadotropin (HCG) diet presented with fever, cholestasis, coagulopathy, hemolytic anemia, and acute renal dysfunction. Imaging of the biliary system and liver were normal. She responded to intravenous antibiotics, vitamin K and blood transfusions but experienced relapse upon discontinuation of antibiotics. She had remission with reinstitution of antibiotics. Liver biopsy revealed pronounced bile ductular reaction, bridging fibrosis, and hepatocytic anisocytosis and anisonucleosis with degenerative enlarged eosinophilic hepatocytes, suggestive of Wilson disease. Diagnosis of Wilson disease was further established based on the low serum ceruloplasmin, increased urinary and hepatic copper and presence of Kayser-Fleischer rings. The multisystem involvement of the liver, kidney, blood, and brain are consistent with Wilson disease; however, the clinical presentation of cholangitis and reversible coagulopathy is uncommon, and may result from concurrent acute cholangitis and/or the HCG diet regimen the patient was on. PMID:21901661

  16. A family cluster of hepatitis A virus due to an uncommon IA strain circulating in Campania (southern Italy), not associated with raw shellfish or berries: a wake-up call to implement vaccination against hepatitis A?

    PubMed

    Tosone, Grazia; Mascolo, Silvia; Bruni, Roberto; Taffon, Stefania; Equestre, Michele; Tosti, Maria Elena; Ciccaglione, Anna Rita; Martucci, Fiorella; Liberti, Alfonso; Iannece, Maria Donata; Orlando, Raffaele

    2016-09-01

    Hepatitis A virus is a widely occurring disease, with different prevalence rates between countries in the North and West and those in the South and East. In Italy endemicity is low/medium, but not homogeneously distributed: in the northern/central regions a large hepatitis A outbreak due to genotype IA, related to the consumption of contaminated mixed frozen berries, occurred between 2013 and 2014, whereas in southern Italian regions recurrent outbreaks of hepatitis A, due to the IB genotype, still result from consumption of raw seafood. In 2014 an uncommon genotype IA strain was isolated from five patients (2 adults and 3 children) with hepatitis A, living in the surroundings of Naples (Campania) who did not have any of the most common risk factors for hepatitis A in Italy, such as consumption of raw shellfish or frozen berries, or travel to endemic countries. Moreover, based on the analysis of viral sequences obtained, this strain differed from several others in the national database, which had been recently isolated during Italian outbreaks. This case report reinforces the need to implement both information campaigns about the prevention of hepatitis A and vaccination programmes in childhood; in addition, it would be suitable to sequence strains routinely not only during large outbreaks of hepatitis A in order to obtain a more detailed national database of HAV strains circulating in Italy. PMID:27668904

  17. A family cluster of hepatitis A virus due to an uncommon IA strain circulating in Campania (southern Italy), not associated with raw shellfish or berries: a wake-up call to implement vaccination against hepatitis A?

    PubMed

    Tosone, Grazia; Mascolo, Silvia; Bruni, Roberto; Taffon, Stefania; Equestre, Michele; Tosti, Maria Elena; Ciccaglione, Anna Rita; Martucci, Fiorella; Liberti, Alfonso; Iannece, Maria Donata; Orlando, Raffaele

    2016-09-01

    Hepatitis A virus is a widely occurring disease, with different prevalence rates between countries in the North and West and those in the South and East. In Italy endemicity is low/medium, but not homogeneously distributed: in the northern/central regions a large hepatitis A outbreak due to genotype IA, related to the consumption of contaminated mixed frozen berries, occurred between 2013 and 2014, whereas in southern Italian regions recurrent outbreaks of hepatitis A, due to the IB genotype, still result from consumption of raw seafood. In 2014 an uncommon genotype IA strain was isolated from five patients (2 adults and 3 children) with hepatitis A, living in the surroundings of Naples (Campania) who did not have any of the most common risk factors for hepatitis A in Italy, such as consumption of raw shellfish or frozen berries, or travel to endemic countries. Moreover, based on the analysis of viral sequences obtained, this strain differed from several others in the national database, which had been recently isolated during Italian outbreaks. This case report reinforces the need to implement both information campaigns about the prevention of hepatitis A and vaccination programmes in childhood; in addition, it would be suitable to sequence strains routinely not only during large outbreaks of hepatitis A in order to obtain a more detailed national database of HAV strains circulating in Italy.

  18. Clinical and radiological profile of ameloblastic fibro-odontoma: an update on an uncommon odontogenic tumor based on a critical analysis of 114 cases.

    PubMed

    Buchner, Amos; Kaffe, Israel; Vered, Marilena

    2013-03-01

    Ameloblastic fibro-odontoma is an uncommon benign tumor of the jaws that belongs to the group of mixed odontogenic tumors. The descriptions of its clinical and radiological features in the literature are not always accurate and sometimes even contradictory. The aim of the present study was to critically evaluate their clinical and radiological features as reported in the English-language literature. A total of 114 well-documented cases of ameloblastic fibro-odontomas (103 from publications and 11 of our own new cases) were analyzed. The patients' age ranged from 8 months to 26 years (mean 9.6). There were 74 (65 %) males, with a male-to-female ratio of 1.85:1 (P = 0.001). The mandible was involved in 74 (65 %) cases, and the mandible-to-maxilla ratio was 1.85:1 (P < 0.001). Nearly 80 % of the lesions were located in the posterior region of the jaws, and most (58 %) were in the posterior mandible. Radiographically, most of the lesions were unilocular and only a few (~10 %) were multilocular. Most lesions were mixed radiolucent-radiopaque, and only a few (~5 %) were radiolucent. Almost all lesions (~92 %) were associated with the crown of an unerupted tooth/teeth. This comprehensive analysis of a large number of patients with an uncommon lesion revealed that ameloblastic fibro-odontomas are significantly more common in males and in the mandible, and that multilocular lesions are uncommon. It also revealed that, based on their clinical and radiological features, some of them are probably true neoplasms while others appear to be developing odontomas (hamartomas).

  19. Effectiveness of tyrosine kinase inhibitors on uncommon E709X epidermal growth factor receptor mutations in non-small-cell lung cancer

    PubMed Central

    Wu, Jenn-Yu; Shih, Jin-Yuan

    2016-01-01

    Background Clinical features of epidermal growth factor receptor (EGFR) mutations: L858R, deletions in exon 19, T790M, insertions in exon 20, G719X, and L861X in non-small-cell lung cancer (NSCLC) are well-known. The clinical significance of other uncommon EGFR mutations, such as E709X, is not well understood. This study aimed to improve the understanding of E709X, and the clinical response to tyrosine kinase inhibitors (TKIs) of NSCLC patients with such an uncommon mutation. Methods Specimens from 3,146 patients were tested for EGFR mutations. We surveyed the clinical data and the effectiveness of TKI treatment in NSCLC patients with EGFR mutations E709X. Results Of the 3,146 patients, 1,689 (53.7%) had EGFR mutations. This included 726 patients with deletions in exon 19, 733 patients with L858R, and 230 (13.6%) patients with other EGFR mutations. In the 230 patients who had mutations other than single deletion in exon 19 or single L858R in exon 21, 25 (1.5%) patients had the uncommon E709X mutations. Twenty patients had complex E709X mutations and five had single E709X mutation: delE709-T710insD. Of these 25 patients, 18 received either gefitinib or erlotinib treatment. The response rate of TKIs treatment was 50.0%, and the median progression-free survival was 6.2 months. All 5 patients who had delE709-T710insD were non-responders to TKI treatments. Conclusion E709X EGFR mutations constituted a small part of the whole group of EGFR mutations. Most patients had complex mutations. The mutation delE709-T710insD was a single mutation and was not associated with good response to TKI treatment. PMID:27785061

  20. An outbreak of salmonella chester infection in Canada: rare serotype, uncommon exposure, and unusual population demographic facilitate rapid identification of food vehicle.

    PubMed

    Taylor, John; Galanis, Eleni; Wilcott, Lynn; Hoang, Linda; Stone, Jason; Ekkert, Judi; Quibell, Doug; Huddleston, Mark; McCormick, Rachel; Whitfield, Yvonne; Adhikari, Bijay; Grant, Christopher C R; Sharma, Davendra

    2012-04-01

    Salmonella Chester infection has rarely been reported in the literature. In 2010, 33 case patients were reported in 2 months in four Canadian provinces. We conducted an outbreak investigation in collaboration with public health agencies, food safety specialists, regulatory agencies, grocery store chains, and the product distributor. We used case patient interviews, customer loyalty cards, and microbiological testing of clinical and food samples to identify nationally distributed head cheese as the food vehicle responsible for the outbreak. The rare serotype, a limited affected demographic group, and an uncommon exposure led to the rapid identification of the source. Control measures were implemented within 9 days of notification of the outbreak. PMID:22488063

  1. Management of a giant inguinoscrotal hernia with an ulcerated base in a patient with cardiac disease

    PubMed Central

    Turner, E Jane H; Malhas, Amar; Chisti, Imran; Oke, Tayo

    2010-01-01

    Giant inguinal herniae pose a surgical challenge, though not uncommon in the developing world they are a rare presentation in the UK. We present a patient with cardiac disease who presented with a giant inguino-scrotal hernia complicated by a bleeding scrotal ulcer. We describe his medical management and the surgical repair of the hernia and refashioning of his scrotum. PMID:24946352

  2. Vitamin B6: a challenging link between nutrition and inflammation in cardiovasular disease

    Technology Transfer Automated Retrieval System (TEKTRAN)

    The objective of the present review is to highlight the relationship between low vitamin B6 status and cardiovascular disease (CVD) through its link with inflammation. While overt vitamin B6 deficiency is uncommon in clinical practice, increasing evidence suggests that mild vitamin B6 deficiency is ...

  3. Incidence of coronary artery disease in patients with valvular heart disease.

    PubMed Central

    Morrison, G W; Thomas, R D; Grimmer, S F; Silverton, P N; Smith, D R

    1980-01-01

    The case notes, cardiac catheterisation data, and coronary arteriograms of 239 patients investigated for valvular heart disease during a five year period were reviewed. Angina present in 13 of 95 patients with isolated mitral valve disease, 43 of 90 patients with isolated aortic valve disease, and 18 of 54 patients with combined mitral and aortic valve disease. Significant coronary artery disease was present in 85 per cent of patients with mitral valve disease and angina, but in only 33 per cent of patients with aortic valve disease and angina. Patients with no chest pain still had a high incidence of coronary artery disease, significant coronary obstruction being present in 22 per cent with mitral valve disease, 22 per cent with aortic valve disease, and 11 per cent with combine mitral and aortic valve disease. Several possible clinical markers of coronary artery disease were examined but none was found to be of practical help. There was, however, a significant inverse relation between severity of coronary artery disease and severity of valve disease in patients with aortic valve disease. Asymptomatic coronary artery disease is not uncommon in patients with valvular heart disease and if it is policy to perform coronary artery bypass grafting in such patients, routine coronary arteriography must be part of the preoperative investigation. PMID:7459146

  4. Salivary gland diseases in children

    PubMed Central

    Iro, Heinrich; Zenk, Johannes

    2014-01-01

    Salivary gland diseases in children are rare, apart from viral-induced diseases. Nevertheless, it is essential for the otolaryngologist to recognize these uncommon findings in children and adolescents and to diagnose and initiate the proper treatment. The present work provides an overview of the entire spectrum of congenital and acquired diseases of the salivary glands in childhood and adolescence. The current literature was reviewed and the results discussed and summarized. Besides congenital diseases of the salivary glands in children, the main etiologies of viral and bacterial infections, autoimmune diseases and tumors of the salivary glands were considered. In addition to the known facts, new developments in diagnostics, imaging and therapy, including sialendoscopy in obstructive diseases and chronic recurrent juvenile sialadenitis were taken into account. In addition, systemic causes of salivary gland swelling and the treatment of sialorrhoea were discussed. Although salivary gland diseases in children are usually included in the pathology of the adult, they differ in their incidence and some­times in their symptoms. Clinical diagnostics and especially the surgical treatment are influenced by a stringent indications and a less invasive strategy. Due to the rarity of tumors of the salivary glands in children, it is recommended to treat them in a specialized center with greater surgical experience. Altogether the knowledge of the differential diagnoses in salivary gland diseases in children is important for otolaryngologists, to indicate the proper therapeutic approach. PMID:25587366

  5. Embryonal Hepatoblastoma with Co-existent Glycogen Storage Disease in a Seven-month-old Child

    PubMed Central

    Kalra, Brahma Prakash; Bhat, Nowneet Kumar; Wasim, Sanobar

    2016-01-01

    Hepatoblastoma is an uncommon malignant liver tumour diagnosed usually during the first three years of life. It presents as abdominal mass with elevated alpha fetoprotein levels. The definite diagnosis requires histopathological confirmation. Although conditions like Familial Adenomatous Polyposis (FAP) or Beckwith-Wiedman Syndrome may be associated with hepatoblastomas, storage disorders are uncommonly documented. We describe a rare case of hepatoblastoma with co-existent glycogen storage disease in an infant male who presented with a progressively increasing mass in abdomen along with failure to thrive. PMID:27042474

  6. Baastrup's disease in the pediatric spine

    PubMed Central

    Singh, Suryapratap

    2016-01-01

    Baastrup's disease is an uncommon entity in the elderly spine and it is very rare in the pediatric age group. There are only few case reports in the literature containing Baastrup's disease in pediatric spine. Baastrup's disease is also known as kissing spine because the posterior spinous processes touch or “kiss” one another, characterized by enlarged posterior spinous projections with normal neuroforamina and normal spinal disk height. There are various pathological and etiological hypotheses behind Baastrup's disease. Backache is one of the most common causes of morbidity in these patients and but sometimes patient can be asymptomatic with or without swelling on the back. Here, we present a case of 10-year-old female child with silent swelling on low back region diagnose as Baastrup's disease.

  7. Baastrup's disease in the pediatric spine

    PubMed Central

    Singh, Suryapratap

    2016-01-01

    Baastrup's disease is an uncommon entity in the elderly spine and it is very rare in the pediatric age group. There are only few case reports in the literature containing Baastrup's disease in pediatric spine. Baastrup's disease is also known as kissing spine because the posterior spinous processes touch or “kiss” one another, characterized by enlarged posterior spinous projections with normal neuroforamina and normal spinal disk height. There are various pathological and etiological hypotheses behind Baastrup's disease. Backache is one of the most common causes of morbidity in these patients and but sometimes patient can be asymptomatic with or without swelling on the back. Here, we present a case of 10-year-old female child with silent swelling on low back region diagnose as Baastrup's disease. PMID:27695557

  8. Cry-like genes, in an uncommon gene configuration, produce a crystal that localizes within the exosporium when expressed in an acrystalliferous strain of Bacillus thuringiensis.

    PubMed

    Ammons, David; Toal, Graham; Roman, Angel; Rojas-Avelizapa, Luz I; Ventura-Suárez, Antonio; Rampersad, Joanne

    2016-02-01

    Cry proteins are pesticidal toxins produced by the bacterium Bacillus thuringiensis (Bt), which aggregate in sporulating cells to form a crystal. Except in a relatively few cases, these crystals are located outside the exosporium that surrounds the spore. Bt2-56 is a strain of Bt that has the relatively uncommon characteristic of locating its Cry protein-containing crystal within the exosporium, and in association with a long, multifiber filament. With the ultimate goal of both understanding and manipulating the localization of Cry proteins within the exosporium, we sought to identify the genes coding for the exosporium-localized Cry proteins in Bt2-56. Herein we show (i) that five cry-like genes are present in the genome of Bt2-56, (ii) that two pairs of these genes show organizational similarity to a relatively uncommon gene configuration that coexpress a cry gene along with a gene whose product aids crystal formation and (iii) that when one of these two gene pairs (cry21A-cdA) is expressed in an acrystalliferous strain of Bt, crystals are formed that localize within the exosporium. In Bt ssp. finitimus, the only other strain in which crystal localization has been studied, a Cry protein needed expression of two non-cry ORFs in order to localize within the exosporium, indicating that there are some mechanistic differences for crystal localization between Bt ssp. finitimus and Bt2-56.

  9. Uncommon HLA alleles identified by hemizygous ultra-high Sanger sequencing: haplotype associations and reconsideration of their assignment in the Common and Well-Documented catalogue.

    PubMed

    Voorter, Christina E M; Groeneweg, Mathijs; Groeneveld, Lisette; Tilanus, Marcel G J

    2016-02-01

    Although the number of HLA alleles still increases, many of them have been reported being uncommon. This is partly due to lack of full length gene sequencing, especially for those alleles belonging to an allele ambiguity in which the first discovered allele has been assigned as the most frequent one. As members of the working group on Common and Well Documented (CWD) alleles and since we implemented full length group-specific sequencing as standard method routinely, we have investigated the presence of presumably rare alleles in our collection of HLA typing data. We identified 50 alleles, that were not previously encountered as Common or Well Documented. Sixteen of them should be added to the CWD catalogue, since we encountered them in 5 or more unrelated individuals. Another 11 could be added, based upon our results and the data present in the IMGT database and the rare allele section of the allele frequencies database. Furthermore, tight associations were observed between several different alleles even at the level of synonymous and non-coding sequences. In addition, in several cases the uncommon allele was found to be more frequent than its common counterpart.

  10. Cry-like genes, in an uncommon gene configuration, produce a crystal that localizes within the exosporium when expressed in an acrystalliferous strain of Bacillus thuringiensis.

    PubMed

    Ammons, David; Toal, Graham; Roman, Angel; Rojas-Avelizapa, Luz I; Ventura-Suárez, Antonio; Rampersad, Joanne

    2016-02-01

    Cry proteins are pesticidal toxins produced by the bacterium Bacillus thuringiensis (Bt), which aggregate in sporulating cells to form a crystal. Except in a relatively few cases, these crystals are located outside the exosporium that surrounds the spore. Bt2-56 is a strain of Bt that has the relatively uncommon characteristic of locating its Cry protein-containing crystal within the exosporium, and in association with a long, multifiber filament. With the ultimate goal of both understanding and manipulating the localization of Cry proteins within the exosporium, we sought to identify the genes coding for the exosporium-localized Cry proteins in Bt2-56. Herein we show (i) that five cry-like genes are present in the genome of Bt2-56, (ii) that two pairs of these genes show organizational similarity to a relatively uncommon gene configuration that coexpress a cry gene along with a gene whose product aids crystal formation and (iii) that when one of these two gene pairs (cry21A-cdA) is expressed in an acrystalliferous strain of Bt, crystals are formed that localize within the exosporium. In Bt ssp. finitimus, the only other strain in which crystal localization has been studied, a Cry protein needed expression of two non-cry ORFs in order to localize within the exosporium, indicating that there are some mechanistic differences for crystal localization between Bt ssp. finitimus and Bt2-56. PMID:26781916

  11. Pulmonary Langerhans Histiocytosis: an uncommon cause of interstitial pneumonia in a patient with Sjögren syndrome.

    PubMed

    González García, Andrés; Callejas Rubio, José Luis; Ríos Fernández, Raquel; Ortego Centeno, Norberto

    2016-03-01

    Sjögren syndrome is a chronic, systemic, and autoimmune disorder that targets exocrine glands by remarkable B cell hyperactivity. Eventually, it is associated with extra-glandular clinical manifestations that affect essentially any organ system, including pulmonary involvement. Interstitial lung disease is one of the most serious pulmonary complications, and the early diagnosis is essential to initiate a prompt therapy. On the other hand, Sjögren syndrome could present concomitantly with several rheumatologic diseases such as systemic lupus erythematosus or rheumatoid arthritis. Pulmonary Langerhans Histiocytosis is a rare clonal proliferative disease characterized by pulmonary involvement by cells phenotypically similar to Langerhans cells. We describe the case of a nonsmoker 62-year-old woman with Sjögren syndrome who presented concomitantly a Pulmonary Langerhans Histiocytosis mimicking a pulmonary complication of its Sjögren. Fortunately, she had a well response to corticosteroids and azathioprine regimen. The aim of the paper is to emphasize the importance of the good differential diagnosis related to the pulmonary involvement. To the best of our knowledge, this is the first description of these two entities in the literature.

  12. Chronic kidney disease in children

    PubMed Central

    Becherucci, Francesca; Roperto, Rosa Maria; Materassi, Marco; Romagnani, Paola

    2016-01-01

    Chronic kidney disease (CKD) is a major health problem worldwide. Although relatively uncommon in children, it can be a devastating illness with many long-term consequences. CKD presents unique features in childhood and may be considered, at least in part, as a stand-alone nosologic entity. Moreover, some typical features of paediatric CKD, such as the disease aetiology or cardiovascular complications, will not only influence the child's health, but also have long-term impact on the life of the adult that they will become. In this review we will focus on the unique issues of paediatric CKD, in terms of aetiology, clinical features and treatment. In addition, we will discuss factors related to CKD that start during childhood and require appropriate treatments in order to optimize health outcomes and transition to nephrologist management in adult life. PMID:27478602

  13. Zygomycetes in Human Disease

    PubMed Central

    Ribes, Julie A.; Vanover-Sams, Carolyn L.; Baker, Doris J.

    2000-01-01

    The Zygomycetes represent relatively uncommon isolates in the clinical laboratory, reflecting either environmental contaminants or, less commonly, a clinical disease called zygomycosis. There are two orders of Zygomycetes containing organisms that cause human disease, the Mucorales and the Entomophthorales. The majority of human illness is caused by the Mucorales. While disease is most commonly linked to Rhizopus spp., other organisms are also associated with human infection, including Mucor, Rhizomucor, Absidia, Apophysomyces, Saksenaea, Cunninghamella, Cokeromyces, and Syncephalastrum spp. Although Mortierella spp. do cause disease in animals, there is no longer sufficient evidence to suggest that they are true human pathogens. The spores from these molds are transmitted by inhalation, via a variety of percutaneous routes, or by ingestion of spores. Human zygomycosis caused by the Mucorales generally occurs in immunocompromised hosts as opportunistic infections. Host risk factors include diabetes mellitus, neutropenia, sustained immunosuppressive therapy, chronic prednisone use, iron chelation therapy, broad-spectrum antibiotic use, severe malnutrition, and primary breakdown in the integrity of the cutaneous barrier such as trauma, surgical wounds, needle sticks, or burns. Zygomycosis occurs only rarely in immunocompetent hosts. The disease manifestations reflect the mode of transmission, with rhinocerebral and pulmonary diseases being the most common manifestations. Cutaneous, gastrointestinal, and allergic diseases are also seen. The Mucorales are associated with angioinvasive disease, often leading to thrombosis, infarction of involved tissues, and tissue destruction mediated by a number of fungal proteases, lipases, and mycotoxins. If the diagnosis is not made early, dissemination often occurs. Therapy, if it is to be effective, must be started early and requires combinations of antifungal drugs, surgical intervention, and reversal of the underlying risk

  14. Pulmonary Strongyloidiasis Masquerading as Exacerbation of Chronic Obstructive Pulmonary Disease

    PubMed Central

    Pradhan, Gourahari; Behera, Priyadarshini; Bhuniya, Sourin; Mohapatra, Prasanta Raghab; Turuk, Jyotirmayee; Mohanty, Srujana

    2016-01-01

    Pulmonary strongyloidiasis is an uncommon presentation of Strongyloides infection, usually seen in immunocompromised hosts. The manifestations are similar to that of acute exacerbation of chronic obstructive pulmonary disease (COPD). Therefore, the diagnosis of pulmonary strongyloidiasis could be challenging in a COPD patient, unless a high index of suspicion is maintained. Here, we present a case of Strongyloides hyperinfection in a COPD patient mimicking acute exacerbation, who was on chronic steroid therapy. PMID:27790284

  15. Chronic lymphocytic leukemia with a FGFR3 translocation: case report and literature review of an uncommon cytogenetic event.

    PubMed

    Geller, Matthew D; Pei, Ying; Spurgeon, Stephen E; Durum, Connie; Leeborg, Nicky J

    2014-01-01

    The t(4;14) (p16; q32) with fusion of the IGH (immunoglobulin heavy chain) and FGFR3 (fibroblast growth factor receptor 3) genes are rarely present in patients with chronic lymphocytic leukemia (CLL), with only two previously reported cases. We herein describe a unique case of CLL with the occurrence of a t(4;14) (p16;q32), trisomy 12, and deletion of 11q13-q23 in the same clonal cells. In contrast to myeloma, in which FGFR3 translocations are a common early cytogenetic hit, FGFR3 rearrangement in CLL appears to occur later in the disease course.

  16. Destructive discovertebral degenerative disease of the lumbar spine.

    PubMed

    Charran, A K; Tony, G; Lalam, R; Tyrrell, P N M; Tins, B; Singh, J; Eisenstein, S M; Balain, B; Trivedi, J M; Cassar-Pullicino, V N

    2012-09-01

    The uncommon variant of degenerative hip joint disease, termed rapidly progressive osteoarthritis, and highlighted by severe joint space loss and osteochondral disintegration, is well established. We present a similar unusual subset in the lumbar spine termed destructive discovertebral degenerative disease (DDDD) with radiological features of vertebral malalignment, severe disc resorption, and "bone sand" formation secondary to vertebral fragmentation. Co-existing metabolic bone disease is likely to promote the development of DDDD of the lumbar spine, which presents with back pain and sciatica due to nerve root compression by the "bone sand" in the epidural space. MRI and CT play a complimentary role in making the diagnosis.

  17. Combination of two different homozygote mutations in Pompe disease.

    PubMed

    Arslan, Alev; Poyrazoğlu, Hatice Gamze; Kiraz, Aslihan; Özcan, Alper; Işık, Halid; Ergul, Ayse Betül; Mungan, Neslihan Önenli; Streubel, Berthold; Ceylaner, Serdar; Altuner Torun, Yasemin

    2016-03-01

    Pompe disease (OMIM no 232300) is an autosomal recessive inherited metabolic disorder, caused by glycogen accumulation in the lysosome due to deficiency of the lysosomal acid 03B1-glucosidase enzyme. Here we report the case of an 8-month-old girl of consanguineous Turkish parents, who was diagnosed with the infantile form of Pompe disease. Two different uncommon homozygote mutations (c.32-13 T > G homozygote and c.1856G > A homozygote) were detected. The patient had a more progressive clinical course than expected. We emphasize the rare combination of genetic mutations in this Turkish family with Pompe disease. PMID:26946079

  18. Pulmonary disease caused by Mycobacterium malmoense.

    PubMed

    Alberts, W M; Chandler, K W; Solomon, D A; Goldman, A L

    1987-06-01

    Mycobacterium malmoense was isolated from pulmonary material from 4 patients. Two patients had repeatedly positive smears and cultures along with roentgenographic progression of pulmonary disease in the absence of another pathogen. These 2 patients therefore meet the criteria for diagnosis of pulmonary mycobacteriosis. Isolation of the organism may represent colonization in a third patient, and M. malmoense has been isolated from a fourth patient on 2 occasions. It is not yet definite, however, that the pulmonary process is due to mycobacterial disease. Although uncommon, pulmonary disease caused by this organism has been reported from Europe. Only 1 prior case of pulmonary disease caused by M. malmoense, however, has been reported in the United States. PMID:3592410

  19. Accelerated Phase of Chediak-Higashi Syndrome at Initial Presentation: A Case Report of an Uncommon Occurrence in a Rare Disorder

    PubMed Central

    Jaiswal, Pooja; Bhasker, Nilam; Kushwaha, Rashmi

    2015-01-01

    Chediak-Higashi syndrome (CHS) is an uncommon and fatal congenital disorder. The characteristic features of CHS are partial oculocutaneous albinism, increased vulnerability to infections, presence of abnormal large granules in leukocytes and an accelerated lymphohistiocytic phase. Accelerated phase at initial presentation is rarely seen as it is usually preceded by repeated episodes of infections. Hence this interesting case of a four-month-old Indian child born to consanguineous parents in accelerated phase at initial presentation is described. The boy presented with fever, hepatosplenomegaly, and cleft lip. Clinical diagnosis was leukemia or a lysosomal storage disorder. Cytopaenias, lymphohistiocytic infiltration in bone marrow, and the characteristic large granules in leucocytes helped in the diagnosis, emphasizing the importance of bone marrow in diagnosis of unusual presentation of this rare disorder. PMID:26816903

  20. Accelerated Phase of Chediak-Higashi Syndrome at Initial Presentation: A Case Report of an Uncommon Occurrence in a Rare Disorder.

    PubMed

    Jaiswal, Pooja; Yadav, Yogesh Kumar; Bhasker, Nilam; Kushwaha, Rashmi

    2015-12-01

    Chediak-Higashi syndrome (CHS) is an uncommon and fatal congenital disorder. The characteristic features of CHS are partial oculocutaneous albinism, increased vulnerability to infections, presence of abnormal large granules in leukocytes and an accelerated lymphohistiocytic phase. Accelerated phase at initial presentation is rarely seen as it is usually preceded by repeated episodes of infections. Hence this interesting case of a four-month-old Indian child born to consanguineous parents in accelerated phase at initial presentation is described. The boy presented with fever, hepatosplenomegaly, and cleft lip. Clinical diagnosis was leukemia or a lysosomal storage disorder. Cytopaenias, lymphohistiocytic infiltration in bone marrow, and the characteristic large granules in leucocytes helped in the diagnosis, emphasizing the importance of bone marrow in diagnosis of unusual presentation of this rare disorder. PMID:26816903

  1. Controlling distant metastasis and surgical treatment are crucial for improving clinical outcome in uncommon head and neck malignancies, such as non-squamous cell carcinoma

    PubMed Central

    SHIIBA, MASASHI; UNOZAWA, MOTOHARU; HIGO, MORIHIRO; KOUZU, YUKINAO; KASAMATSU, ATSUSHI; SAKAMOTO, YOSUKE; OGAWARA, KATSUNORI; UZAWA, KATSUHIRO; TAKIGUCHI, YUICHI; TANZAWA, HIDEKI

    2014-01-01

    The objective of this study was to elucidate the clinical characteristics of uncommon head and neck malignancies, such as non-squamous cell carcinoma (SCC), in order to improve patient outcomes. A total of 463 head and neck malignancies were retrospectively analyzed, with 43 cases (9.3%) diagnosed as non-SCC. The overall survival rate of patients with adenoid cystic carcinoma was significantly worse compared to that of patients with SCC. The 5-year survival rates were <50% for patients with malignant melanoma, adenocarcinoma, small-cell carcinoma and sarcomas. Distant metastasis to the lung was frequently observed in cases with a poor outcome. Non-SCC malignancies treated without surgery were associated with a worse outcome. Some non-SCC patients had a poor prognosis and distant metastasis was associated with an unsatisfactory outcome. Timely treatment and control of distant metastasis are essential and surgical treatment should be prioritized in non-SCC cases to improve patient outcomes. PMID:24940505

  2. Genome-wide association study for adiponectin levels in Filipino women identifies CDH13 and a novel uncommon haplotype at KNG1–ADIPOQ

    PubMed Central

    Wu, Ying; Li, Yun; Lange, Ethan M.; Croteau-Chonka, Damien C.; Kuzawa, Christopher W.; McDade, Thomas W.; Qin, Li; Curocichin, Ghenadie; Borja, Judith B.; Lange, Leslie A.; Adair, Linda S.; Mohlke, Karen L.

    2010-01-01

    Adiponectin is an adipocyte-secreted protein involved in a variety of metabolic processes, including glucose regulation and fatty acid catabolism. We conducted a genome-wide association study to investigate the genetic loci associated with plasma adiponectin in 1776 unrelated Filipino women from the Cebu Longitudinal Health and Nutrition Survey (CLHNS). Our strongest signal for adiponectin mapped to the gene CDH13 (rs3865188, P ≤ 7.2 × 10−16), which encodes a receptor for high-molecular-weight forms of adiponectin. Strong association was also detected near the ADIPOQ gene (rs864265, P = 3.8 × 10−9) and at a novel signal 100 kb upstream near KNG1 (rs11924390, P = 7.6 × 10−7). All three signals were also observed in 1774 young adult CLHNS offspring and in combined analysis including all 3550 mothers and offspring samples (all P ≤ 1.6 × 10−9). An uncommon haplotype of rs11924390 and rs864265 (haplotype frequency = 0.050) was strongly associated with lower adiponectin compared with the most common C–G haplotype in both CLHNS mothers (P = 1.8 × 10−25) and offspring (P = 8.7 × 10−32). Comprehensive imputation of 2653 SNPs in a 2 Mb region using as reference combined CHB, JPT and CEU haplotypes from the 1000 Genomes Project revealed no variants that perfectly tagged this haplotype. Our findings provide the first genome-wide significant evidence of association with plasma adiponectin at the CDH13 locus and identify a novel uncommon KNG1–ADIPOQ haplotype strongly associated with adiponectin levels in Filipinos. PMID:20876611

  3. Role of ultrasonography with color-Doppler in diagnosis of penile Mondor's disease.

    PubMed

    Dell'Atti, Lucio

    2014-09-01

    Penile Mondor's disease (superficial thrombophlebitis of the penis dorsal vein) is an uncommon and benign pathology that affects sexually active men. Although the diagnosis is made by physical examination in most patients, sonography may be required in some cases. Color-Doppler ultrasonography clearly visualizes dorsal vein thrombosis and the associated hemodynamic alterations. We describe the symptoms, the sonographic findings and treatment of this disease in a 26-year-old male with superficial thrombophlebitis of the penis dorsal vein.

  4. Recurrent acute obstructive hydrocephalus as clinical onset of cerebral Whipple's disease.

    PubMed

    Seneca, Vincenzo; Imperato, Alessia; Colella, Giuseppe; Cioffi, Valentina; Mariniello, Giuseppe; Gangemi, Michelangelo

    2010-10-01

    Whipple's disease is a rare multisystemic infection caused by the intracellular bacteria Thropheryma whippelii. Central nervous system (CNS) involvement is not rare. The most frequent CNS manifestations are cognitive and behavioural changes, sopranuclear ophtalmoplegia, myoclonus, epilepsy, ataxia, meningitis and focal cerebral palsy. We report one case of cerebral localization of Whipple's disease with a clinical presentation of recurrent endocranic hypertension and hydrocephalus, and uncommon neurological symptoms, successfully treated by endoscopic third ventriculostomy and antibiotic therapy with ceftriaxone and Trimethoprim-Sulfamethoxazole.

  5. Are MAO-A deficiency states in the general population and in putative high-risk populations highly uncommon?

    PubMed

    Murphy, D L; Sims, K; Eisenhofer, G; Greenberg, B D; George, T; Berlin, F; Zametkin, A; Ernst, M; Breakefield, X O

    1998-01-01

    Lack of monoamine oxidase A (MAO-A) due to either Xp chromosomal deletions or alterations in the coding sequence of the gene for this enzyme are associated with marked changes in monoamine metabolism and appear to be associated with variable cognitive deficits and behavioral changes in humans and in transgenic mice. In mice, some of the most marked behavioral changes are ameliorated by pharmacologically-induced reductions in serotonin synthesis during early development, raising the question of possible therapeutic interventions in humans with MAO deficiency states. At the present time, only one multi-generational family and a few other individuals with marked MAO-A deficiency states have been identified and studied in detail. Although MAO deficiency states associated with Xp chromosomal deletions were identified by distinct symptoms (including blindness in infancy) produced by the contiguous Norrie disease gene, the primarily behavioral phenotype of individuals with the MAO mutation is less obvious. This paper reports a sequential research design and preliminary results from screening several hundred volunteers in the general population and from putative high-risk groups for possible MAO deficiency states. These preliminary results suggest that marked MAO deficiency states are very rare.

  6. A report of three cases of untreated Graves’ disease associated with pancytopenia in Malaysia

    PubMed Central

    Rafhati, Abdullah Noor; See, Chee Keong; Hoo, Fan Kee; Badrulnizam, Long Bidin Mohamed

    2014-01-01

    Generally, clinical presentations of Graves’ disease range from asymptomatic disease to overt symptomatic hyperthyroidism with heat intolerance, tremor, palpitation, weight loss, and increased appetite. However, atypical presentation of Graves’ disease with hematological system involvement, notably pancytopenia, is distinctly uncommon. Hereby, we present and discuss a series of three untreated cases of Graves’ disease clinically presented with pancytopenia and the hematological abnormalities that responded well to anti-thyroid treatment. With resolution of the thyrotoxic state, the hematological parameters improved simultaneously. Thus, it is crucial that anti-thyroid treatment be considered in patients with Graves’ disease and pancytopenia after a thorough hematological evaluation. PMID:25763162

  7. Expression of HER2/neu is uncommon in human neuroblastic tumors and is unrelated to tumor progression.

    PubMed

    Gambini, Claudio; Sementa, Angela Rita; Boni, Luca; Marino, Carla Enrica; Croce, Michela; Negri, Francesca; Pistoia, Vito; Ferrini, Silvano; Corrias, Maria Valeria

    2003-02-01

    Neuroblastic tumors (NT) are the most frequently occurring extracranial solid tumors during childhood. The overall 5-year survival is approximately 20% for patients with metastatic disease. Novel treatments are therefore intensively sought and tumor-targeted immuno- and chemotherapy appear promising. The HER2/neu oncogene, which is highly homologous to the EGF receptor, was initially isolated from rat neuroblastoma cells. HER2/neu over-expression is frequently detected in breast tumors and constitutes an important unfavorable prognostic factor. HER2/neu is a suitable target for antibody-based immunotherapy, as demonstrated by the clinical efficacy of the Herceptin monoclonal antibody (mAb), which reacts with its extracellular domain. Expression of HER2/neu has also been reported to be a negative prognostic factor in a small survey of NT tumors. Here, we have investigated HER2/neu expression in 14 human and 2 murine neuroblastoma (NB) cell lines by flow cytometric analysis and in 93 NT by means of a certified immunohistochemical system. HER2/neu over-expression was found in 2 human cell lines and 11 tumors (14% for both types of samples). No significant association was found between HER2/neu expression and stage, age, sex, ploidy, histological type or subtype. Moreover, log rank test indicated that overall and event-free survival was not significantly different in HER2/neu positive and negative patients. These data suggest that HER2/neu should not be considered as a relevant prognostic factor in NT, and that HER2/neu-based immunotherapy may be feasible only in a minority of NT patients.

  8. Epidemiology and clinical management of Legionnaires' disease.

    PubMed

    Phin, Nick; Parry-Ford, Frances; Harrison, Timothy; Stagg, Helen R; Zhang, Natalie; Kumar, Kartik; Lortholary, Olivier; Zumla, Alimuddin; Abubakar, Ibrahim

    2014-10-01

    Legionnaires' disease is an important cause of community-acquired and hospital-acquired pneumonia. Although uncommon, Legionnaires' disease continues to cause disease outbreaks of public health significance. The disease is caused by any species of the Gram-negative aerobic bacteria belonging to the genus Legionella; Legionella pneumophila serogroup 1 is the causative agent of most cases in Europe. In this Review we outline the global epidemiology of Legionnaires' disease, summarise its diagnosis and management, and identify research gaps and priorities. Early clinical diagnosis and prompt initiation of appropriate antibiotics for Legionella spp in all patients with community-acquired or hospital-acquired pneumonias is a crucial measure for management of the disease. Progress in typing and sequencing technologies might additionally contribute to understanding the distribution and natural history of Legionnaires' disease, and inform outbreak investigations. Control of Legionnaires' disease outbreaks relies on rapid ascertainment of descriptive epidemiological data, combined with microbiological information to identify the source and implement control measures. Further research is required to define the actual burden of disease, factors that influence susceptibility, key sources of infection, and differences in virulence between strains of Legionella species. Other requirements are improved, specific, sensitive, and rapid diagnostic tests to accurately inform management of Legionnaires' disease, and controlled clinical trials to ascertain the optimum antibiotics for treatment.

  9. Beneath the Copper-Pediatric Wilson's Disease Cirrhosis and Hepatocellular Carcinoma: A Case Report with Literature Review.

    PubMed

    Rosencrantz, Richard A; LeCompte, Lesli; Yusuf, Yasmin

    2015-11-01

    Primary hepatic malignancies are uncommon in pediatrics. Tumors such as hepatocellular carcinoma (HCC) develop typically in the setting of chronic liver disease. The incidence of HCC in Wilson's disease-related cirrhosis is disproportionately lower than in many other forms of end-stage liver disease. A preadolescent girl presented with Wilson's disease cirrhosis and a HCC requiring orthotopic liver transplantation. This case highlights the need to consider hepatic malignancies even in young Wilson's disease patients. Pediatric Wilson's disease and the hepatic tumor literature are reviewed.

  10. Beneath the Copper-Pediatric Wilson's Disease Cirrhosis and Hepatocellular Carcinoma: A Case Report with Literature Review.

    PubMed

    Rosencrantz, Richard A; LeCompte, Lesli; Yusuf, Yasmin

    2015-11-01

    Primary hepatic malignancies are uncommon in pediatrics. Tumors such as hepatocellular carcinoma (HCC) develop typically in the setting of chronic liver disease. The incidence of HCC in Wilson's disease-related cirrhosis is disproportionately lower than in many other forms of end-stage liver disease. A preadolescent girl presented with Wilson's disease cirrhosis and a HCC requiring orthotopic liver transplantation. This case highlights the need to consider hepatic malignancies even in young Wilson's disease patients. Pediatric Wilson's disease and the hepatic tumor literature are reviewed. PMID:26676818

  11. Myeloproliferative disease in a cat

    SciTech Connect

    Yates, R.W.; Weller, R.E.; Feldman, B.F.

    1984-10-01

    Myeloproliferative disorders, a complex of cytologic abnormalities arising in the bone marrow, are among domestic animals most frequently recognized in cats but are relatively uncommon. A 4-year-old female Siamese, with splenomegaly and weight loss, was listless, anorectic, pale and dehydrated. A hemogram showed severe, macrocytic normochromic anemia, leukocytosis and reticulocytosis, with abnormally high numbers of nucleated RBC and undifferentiated blast cells. Bone marrow smears contained predominantly undifferentiated blast cells, RBC precursors and myeloblasts. The fluorescent antibody test for FeLV was positive. The cat died 66 days later despite a blood transfusion and chemotherapy. Necropsy confirmed a diagnosis of myeloproliferative disease, with hepatic and splenic invasion. 15 references, 5 figures, 1 table.

  12. Sporadic Parkinson disease and amyotrophic lateral sclerosis complex (Brait-Fahn-Schwartz disease).

    PubMed

    Manno, Concetta; Lipari, Alessio; Bono, Valeria; Taiello, Alfonsa Claudia; La Bella, Vincenzo

    2013-03-15

    Clinical evidence for parkinsonism may accompany Amyotrophic Lateral Sclerosis with a frequency ranging from 5% to 17%. The concurrence of Amyotrophic Lateral Sclerosis and Parkinson's disease, outside the known Guam and Kii Peninsula foci, is instead rare, but this raises the possibility of a common pathogenesis. Clinically this complex presents with a levodopa-responsive parkinsonism and Amyotrophic Lateral Sclerosis and has been termed Brait-Fahn-Schwartz disease. Here we describe two patients with this uncommon neurodegenerative complex. Both presented with Parkinson disease and progressed to a full blown Amyotrophic Lateral Sclerosis. We further suggest that the association of Parkinson disease and Amyotrophic Lateral Sclerosis represents a distinct nosological entity, which should be kept separated from extrapyramidal signs and symptoms that may occur in Amyotrophic Lateral Sclerosis.

  13. Neonatal herpes should be a reportable disease.

    PubMed

    Handsfield, H Hunter; Waldo, Ann B; Brown, Zane A; Corey, Lawrence; Drucker, Joan L; Ebel, Charles W; Leone, Peter A; Stanberry, Lawrence R; Whitley, Richard J

    2005-09-01

    Neonatal herpes is a devastating disease, the most serious complication of genital herpes, one of the most common serious congenital or perinatal infections, and the most frequent complication of sexually transmitted infections among children. Nevertheless, neonatal herpes is not reportable to health authorities in most states. The potential for prevention has been enhanced by recent diagnostic and therapeutic advances, and the disease meets widely accepted criteria for reporting, including incidence rates that exceed those of comparable conditions, epidemiologic instability, disease severity, direct and indirect socioeconomic costs, concern by persons at risk, the potential for prevention by public health interventions, and the prospect that the resulting data would influence public health policy. The absence of national surveillance contributes to beliefs by healthcare providers and the public health community that genital and neonatal herpes are uncommon conditions that affect small segments of society, beliefs that directly interfere with prevention. Neonatal herpes should be a reportable condition. PMID:16118598

  14. [Caplan's syndrome in marble workers as occupational disease].

    PubMed

    Leikin, Evgeny; Zickel-Shalom, Karin; Balabir-Gurman, Alexandra; Goralnik, Luda; Valdovsky, Evgeny

    2009-08-01

    Rheumatoid pneumoconiosis is an uncommon combination of occupational lung disease caused by exposure to harmful silica dust with rheumatoid inflammation of the joints, rheumatoid arthritis, with an autoimmune background. Until now, the disease was observed mostly among coal and gold miners and granite workers. Written documents on the theme are summarized. This case study outlines the syndrome pathology with typical features presented by the worker, employed for many years in the marble industry. Although in general marble is free of silica, the collection of occupational anamnesis and familiarity with the patient's work conditions and demands gave the authors an opportunity to uncover the exposure source and to determine the most probable diagnosis.

  15. Hypercalcemia of advanced chronic liver disease: a forgotten clinical entity!

    PubMed Central

    Kuchay, Mohammad Shafi; Mishra, Sunil Kumar; Farooqui, Khalid Jamal; Bansal, Beena; Wasir, Jasjeet Singh; Mithal, Ambrish

    2016-01-01

    Summary Hypercalcemia caused by advanced chronic liver disease (CLD) without hepatic neoplasia is uncommonly reported and poorly understood condition. We are reporting two cases of advanced CLD who developed hypercalcemia in the course of the disease. This diagnosis of exclusion was made only after meticulous ruling out of all causes of hypercalcemia. The unique feature of this type of hypercalcemia is its transient nature that may or may not require treatment. This clinical condition in patients with CLD should be kept in mind while evaluating the cause of hypercalcemia in them. PMID:27252737

  16. Emerging infectious diseases with cutaneous manifestations: Viral and bacterial infections.

    PubMed

    Nawas, Zeena Y; Tong, Yun; Kollipara, Ramya; Peranteau, Andrew J; Woc-Colburn, Laila; Yan, Albert C; Lupi, Omar; Tyring, Stephen K

    2016-07-01

    Given increased international travel, immigration, and climate change, bacterial and viral infections that were once unrecognized or uncommon are being seen more frequently in the Western Hemisphere. A delay in diagnosis and treatment of these diseases can lead to significant patient morbidity and mortality. However, the diagnosis and management of these infections is fraught with a lack of consistency because there is a dearth of dermatology literature on the cutaneous manifestations of these infections. We review the epidemiology, cutaneous manifestations, diagnosis, and management of these emerging bacterial and viral diseases.

  17. Atypical anti-glomerular basement membrane disease: lessons learned

    PubMed Central

    Glassock, Richard J.

    2016-01-01

    Anti-glomerular basement membrane (GBM) disease usually pursues a self-limited course, at least from the immunological perspective. In addition, circulating antibodies to cryptic, conformational epitopes within the NC1 domain of the alpha 3 chain of Type IV Collagen are commonly found at the zenith of the clinical disease. However, exceptions to these general rules do occur, as exemplified by two remarkable cases reported in this issue of the Clinical Kidney Journal. The possible explanations for and the lessons learned from these uncommon occurrences are discussed in this short commentary. PMID:27679709

  18. Atypical anti-glomerular basement membrane disease: lessons learned

    PubMed Central

    Glassock, Richard J.

    2016-01-01

    Anti-glomerular basement membrane (GBM) disease usually pursues a self-limited course, at least from the immunological perspective. In addition, circulating antibodies to cryptic, conformational epitopes within the NC1 domain of the alpha 3 chain of Type IV Collagen are commonly found at the zenith of the clinical disease. However, exceptions to these general rules do occur, as exemplified by two remarkable cases reported in this issue of the Clinical Kidney Journal. The possible explanations for and the lessons learned from these uncommon occurrences are discussed in this short commentary.

  19. Utility of Noninvasive Markers of Fibrosis in Cholestatic Liver Diseases.

    PubMed

    Corpechot, Christophe

    2016-02-01

    Methods of liver fibrosis assessment have changed considerably in the last 20 years, and noninvasive markers now have been recognized as major first-line tools in the management of patients with chronic viral hepatitis infection. But what about the efficiency and utility of these surrogate indices for the more uncommon chronic cholestatic liver diseases, namely primary biliary cirrhosis and primary sclerosing cholangitis? This article provides clinicians with a global overview of what is currently known in the field. Both diagnostic and prognostic aspects of noninvasive markers of fibrosis in cholestatic liver diseases are presented and discussed.

  20. Burning Tongue as Initial Presentation of Celiac Disease in an Elderly Woman: A Case Report.

    PubMed

    Sherman, Andrea; Zamulko, Alla

    2016-06-01

    There are few reports in the literature where celiac disease presents with tongue manifestations, although atypical presentations of celiac disease are not uncommon. This case report highlights an atypical presentation of celiac disease in an elderly female. Our patient presented to clinic with complaints of a burning tongue for the past two years as well as occasional loose stools and fatigue. Work-up revealed iron deficiency anemia, zinc deficiency and an abnormal celiac panel. Complete symptom improvement was noted by 10 weeks into the initiation of a gluten free diet. Celiac disease can present at any age and should be considered as a differential in findings of malabsorption and gastrointestinal symptoms.

  1. Wilson's disease presenting as haemolytic anaemia and its successful treatment with penicillamine and zinc.

    PubMed

    Kong, H L; Yap, I L; Kueh, Y K

    1996-12-01

    Haemolysis is an uncommon first manifestation of Wilson's disease. We describe a young woman who presented with episodic haemolysis and abnormal liver functions; the diagnosis of Wilson's disease was not made until nine months later. She responded well to a combination of penicillamine and zinc. This report underscores the importance of considering Wilson's disease as a cause in a patient with haemolysis of uncertain aetiology, since the disease can be successfully treated in the early stages. the mechanism of oxidative damage to erythrocytes by the excessive copper and the present role of zinc therapy are also discussed.

  2. Revisiting Mednick’s Model on Creativity-Related Differences in Associative Hierarchies. Evidence for a Common Path to Uncommon Thought

    PubMed Central

    Benedek, Mathias; Neubauer, Aljoscha C

    2013-01-01

    Fifty years ago, Mednick [Psychological Review, 69 (1962) 220] proposed an elaborate model that aimed to explain how creative ideas are generated and why creative people are more likely to have creative ideas. The model assumes that creative people have flatter associative hierarchies and as a consequence can more fluently retrieve remote associative elements, which can be combined to form creative ideas. This study aimed at revisiting Mednick’s model and providing an extensive test of its hypotheses. A continuous free association task was employed and association performance was compared between groups high and low in creativity, as defined by divergent thinking ability and self-report measures. We found that associative hierarchies do not differ between low and high creative people, but creative people showed higher associative fluency and more uncommon responses. This suggests that creativity may not be related to a special organization of associative memory, but rather to a more effective way of accessing its contents. The findings add to the evidence associating creativity with highly adaptive executive functioning. PMID:24532853

  3. Sea Anemone Peptide with Uncommon β-Hairpin Structure Inhibits Acid-sensing Ion Channel 3 (ASIC3) and Reveals Analgesic Activity*

    PubMed Central

    Osmakov, Dmitry I.; Kozlov, Sergey A.; Andreev, Yaroslav A.; Koshelev, Sergey G.; Sanamyan, Nadezhda P.; Sanamyan, Karen E.; Dyachenko, Igor A.; Bondarenko, Dmitry A.; Murashev, Arkadii N.; Mineev, Konstantin S.; Arseniev, Alexander S.; Grishin, Eugene V.

    2013-01-01

    Three novel peptides were isolated from the venom of the sea anemone Urticina grebelnyi. All of them are 29 amino acid peptides cross-linked by two disulfide bridges, with a primary structure similar to other sea anemone peptides belonging to structural group 9a. The structure of the gene encoding the shared precursor protein of the identified peptides was determined. One peptide, π-AnmTX Ugr 9a-1 (short name Ugr 9-1), produced a reversible inhibition effect on both the transient and the sustained current of human ASIC3 channels expressed in Xenopus laevis oocytes. It completely blocked the transient component (IC50 10 ± 0.6 μm) and partially (48 ± 2%) inhibited the amplitude of the sustained component (IC50 1.44 ± 0.19 μm). Using in vivo tests in mice, Ugr 9-1 significantly reversed inflammatory and acid-induced pain. The other two novel peptides, AnmTX Ugr 9a-2 (Ugr 9-2) and AnmTX Ugr 9a-3 (Ugr 9-3), did not inhibit the ASIC3 current. NMR spectroscopy revealed that Ugr 9-1 has an uncommon spatial structure, stabilized by two S-S bridges, with three classical β-turns and twisted β-hairpin without interstrand disulfide bonds. This is a novel peptide spatial structure that we propose to name boundless β-hairpin. PMID:23801332

  4. Chronic Granulomatous Disease

    PubMed Central

    2015-01-01

    Chronic Granulomatous Disease (CGD) is an inherited immunodeficiency disorder characterized by defective functioning of NADPH oxidase enzyme in the phagocytes. This leads to recurrent infections by catalase positive organisms and later, granuloma formation in multiple organs. This condition usually presents in the age group of 2-5 y and is uncommon in neonates. In this case report, we describe a rare case of CGD in a 40-day-old male child who initially presented with a history of erythematous pustular rash on left forearm and refusal to feeds. He remained unresponsive to regular antibiotics. CT chest and abdomen revealed multiple ill-defined lesions suggestive of granulomas or developing abscesses. Immunodeficiency workup showed negative Nitroblue Tetrazolium test and positive Dihydrorhodamine test (flow cytometry). A diagnosis of CGD was then made and treated accordingly. The aim of this report is to highlight the fact that although it is rare for CGD to present at such an early age, but in a neonate with multiple granulomas or abscesses, it should be considered as a differential and worked up accordingly. Early diagnosis and treatment can significantly improve the prognosis. PMID:26155526

  5. Long-term disease-free survival after surgical resection for multiple bone metastases from rectal cancer

    PubMed Central

    Choi, Seok Jin; Kim, Jong Hun; Lee, Min Ro; Lee, Chang Ho; Kuh, Ja Hong; Kim, Jung Ryul

    2011-01-01

    Bone metastasis of primary colorectal cancer is uncommon. When it occurs, it is usually a late manifestation of disease and is indicative of poor prognosis. We describe a patient with multiple metachronous bone metastases from lower rectal cancer who was successfully treated with multimodal treatment including surgical resections and has shown 32 mo disease-free survival. Surgical resection of metastatic bone lesion(s) from colorectal cancer may be a good treatment option in selected patients. PMID:21876853

  6. An Atlas of Infectious and Parasitic Diseases of the Central Nervous System. A Cooperative Study of SILAN (Sociedad Iberolatinoamericana de Neurorradiologia).

    PubMed

    Gonzalez-Toledo, E; Santos Andrade, C; Da Costa Leite, C; Del Carpio-O'Donovan, R; Fayed, N; Morales, H; Peterson, R; Palacios, E; Previgliano, C H; Rocha, A J; Romero, J M; Rugilo, C; Staut, C C V; Tamer, I; Tavares Lucato, L; Nader, M

    2010-10-01

    Infectious diseases of the central nervous system vary in frequency in different locations in America and Europe. What is common in Brazil can be a sporadic presentation in Europe. Cooperative work gathering experiences from neuroradiologists working in various places can be achieved and will help to identify uncommon cases that can present in our daily practice.

  7. Uncommon, undeclared oesophageal foreign bodies.

    PubMed

    Akenroye, M I; Osukoya, A T

    2012-01-01

    We report two cases of unusual and undeclared oesophageal foreign bodies. A small double-rounded calabash or bottle gourd Lagenaria siceraria, stuffed with traditional medicine designed to acquire spiritual power. A whole tricotyledonous kola nut Cola nitida also designed to make medicine to gain love from a woman after passing it out in stool. Each case presented with a sudden onset of total dysphagia and history of ingestion of foreign bodies was not volunteered by any despite direct questioning. Plain radiograph of the neck and chest in either case did not reveal presence of foreign body. Both were successfully removed through rigid oesophagoscopy. PMID:22718184

  8. Uncommon Infant and Newborn Problems

    MedlinePlus

    It can be scary when your baby is sick, especially when it is not an everyday problem like a cold or a fever. You may not know whether the ... treat it. If you have concerns about your baby's health, call your health care provider right away. ...

  9. Uncommon cause of retrosternal pain.

    PubMed

    Deressa, B K; Bruyninx, L; Ngassa, M; Thill, V; Toussaint, E

    2016-01-01

    We present the case of a 54-year old male patient who was admitted with severe acute epigastric pain, vomiting, and inability to eat since three days before admission. After having excluded cardiac and pulmonary emergencies, an oesogastroduodenoscopy was planned and showed a gastric volvulus. The patient was treated surgically allowing gastric decompression, gastropexy and Nissen intervention. We discuss the case and describe the classification, the diagnosis, the etiologies and therapeutic options in acute and chronic gastric volvulus. PMID:27382947

  10. Uncommon Connections with Common Numerators

    ERIC Educational Resources Information Center

    Lesser, Lawrence M.; Guthrie, Joe A.

    2012-01-01

    Undergraduate students who are pre-service teachers need to make connections between the college mathematics they are learning and the pre-college mathematics they will be teaching. Spanning a broad range of undergraduate curricula, this article describes useful lesser-known connections, explorations, and original proofs involving fractions. In…

  11. A Case of Cerebral Aneurysmal Subarachnoid Hemorrhage in Fabry's Disease

    PubMed Central

    Chang, Youn Hyuk

    2013-01-01

    We report an unusual case of cerebral aneurysmal subarachnoid hemorrage (SAH) with Fabry's disease. A 42-year-old woman presented with aneurysmal SAH originated from a saccular aneurysm of the right posterior communicating artery. The patient was treated by an endovascular coil embolization of aneurysm. Postoperatively the patient recovered favorably without any neurological deficit. During her admission, the patient had a sign of proteinuria in urine analysis. The pathologic findings of kidney needle biopsy implied nephrosialidosis (mucolipidosis of lysosomal stroage disease), which is consistent with a Fabry's disease. It is uncommon that Fabry's disease is presented with aneurysmal SAH, especially in middle-aged patients, but could be a clinical concern. Further investigations are needed to reveal risk factors, vascular anatomy, and causative mechanisms of Fabry's disease with aneurysmal SAH. PMID:23634271

  12. Manifestations and complications of Mycoplasma pneumoniae disease: a review.

    PubMed Central

    Lind, K.

    1983-01-01

    Over the past 20 years the annual number of reports on extrapulmonary symptoms during Mycoplasma (M.) pneumoniae disease has increased. Clinical and epidemiological data indicate that symptoms from the skin and mucous membranes, from the central nervous system, from the heart, and perhaps from other organs as well are not quite uncommon manifestations of M. pneumoniae disease. Reports on unusual courses of the disease have also accumulated, including cases of severe respiratory symptoms, sometimes seen in patients with underlying disease or with a concomitant viral infection. Serious extrapulmonary manifestations have been common in fatal cases of M. pneumoniae disease. Some observations and experimental data on these manifestations and on the possible pathogenic mechanisms are dealt with. The conclusion is that such mechanisms are still largely unknown. PMID:6433567

  13. Commentary: is Alzheimer's disease uniquely human?

    PubMed Central

    Finch, Caleb E.; Austad, Steven N.

    2015-01-01

    That Alzheimer's disease (AD) might be a human-specific disease was hypothesized by Rapoport in 1989. Apes and humans share an identical amyloid beta (Aβ) peptide amino acid sequence and accumulate considerable Aβ deposits after age 40 years, an age when amyloid plaques are uncommon in humans. Despite their early Aβ buildup, ape brains have not shown evidence dystrophic neurites near plaques. Aging great ape brains also have few neurofibrillary tangles, with one exception of 1 obese chimpanzee euthanized after a stroke who displayed abundant neurofibrillary tangles, but without the typical AD distribution. We discuss the need for more exacting evaluation of neuron density with age, and note husbandry issues that may allow great apes to live to greater ages. We remain reserved about expectations for fully developed AD-like pathology in the great apes of advanced ages and cautiously support Rapoport's hypothesis. PMID:25533426

  14. Kinase inhibitor-responsive genotypes in EGFR mutated lung adenocarcinomas: moving past common point mutations or indels into uncommon kinase domain duplications and rearrangements

    PubMed Central

    2016-01-01

    The most frequent epidermal growth factor receptor (EGFR) mutations found by traditional or comprehensive molecular profiling of lung adenocarcinomas include indels of exon 19 (the exon 19 deletion delE746_A750 being the most common) and the exon 21 L858R point mutation. The current approval labels for first line palliative gefitinib 250 mg/day, erlotinib 150 mg/day and afatinib 40 mg/day for advanced lung cancers require the presence of the aforementioned classical/sensitizing EGFR mutations. Other gefitinib, erlotinib and afatinib sensitizing mutations include exon 18 indels, G719X, exon 19 insertions, A763_Y764insFQEA, S768I and L861Q; for which off-label EGFR kinase inhibitor use is generally agreed upon by thoracic oncologists. The main biological mechanism of resistance to approved first line EGFR inhibitors is the selection/acquisition of EGFR-T790M that in itself can be inhibited by osimertinib 80 mg/day, a 3rd generation EGFR inhibitor that is bypassed by EGFR-C797X mutations. Another class of de novo inhibitor insensitive mutation includes EGFR exon 20 insertions. More recently, the dichotomy of only point mutations or indels explaining aberrant kinase activation of EGFR plus inhibitor response has been shattered by the discovery of uncommon (<0.5% of all EGFR mutations) genomic events involving exon 18–25 kinase domain duplications (KDD) and rearrangements (EGFR-RAD51 or EGFR-PURB). The latter lead to oncogene addiction, enhanced sensitivity to kinase inhibitors in vitro and clinical responses to approved EGFR inhibitors. The enhanced landscape of EGFR inhibitor-responsive genotypes highlights that comprehensive molecular profiling may be necessary to maximize the identification of all cases that can benefit from precision oncology. PMID:27413714

  15. En-Plaque Central Nervous System Tuberculoma - An Uncommon Entity: Clinico-Radiological Profile in a Cohort from a Tertiary Referral Centre

    PubMed Central

    Pampapati, Praveen Kumar; Yelsangikar, Kalpana Ramesh

    2016-01-01

    Introduction Case reports pertaining to Magnetic Resonance Imaging (MRI) diagnosis of en-plaque tuberculoma are limited. To the best of our knowledge, descriptions about en-plaque tuberculoma are limited to few isolated case reports. This paper comprehensively depicts the clinical and radiological features in such patients and may serve not to miss this uncommon manifestation of a common central nervous system infection. Materials and Methods A descriptive documentation of the patient cohort with a detailed history and neurological examination were carried out in all the patients. All underwent MRI Brain which revealed en-plaque tuberculoma. Relevant investigations including Cerebrospinal Fluid (CSF) were done in all patients. CSF Polymerase Chain Reaction (PCR) was done in all. Results Eight adult patients (two women and six men) with MRI showing en-plaque CNS tuberculoma were seen during a period of five years. None had suffered from TB in the past nor had history of contact with tuberculosis. All patients demonstrated extra axial dural based lesions and none had cerebral ooedema, parenchymal lesions, mass effect or midline shift. The lesions were located in bilateral corresponding regions in two patients and the rest six had unilateral lesions. Seven patients had lesions located in the supratentorial compartment; one had lesion extending to the infratentorium along the tentorium cerebelli. Various patterns of enhancement were noted in our patients: thin peripheral (n=3), homogenous (n=3), varied enhancement (n=1) and open ring enhancement (n=1). CSF Polymerase Chain Reaction (PCR) was tested positive for tuberculosis in all of our patients. Conclusion While MRI provides an understanding of the topography of the lesion, PCR helped in establishing the diagnosis of tuberculosis in our patients. Awareness about en-plaque tuberculomas can heighten the index of suspicion and can thus prevent aggressive surgical resections and thereby reduce mortality and morbidity

  16. Lavellodrilus notosetosus sp. nov. (Annelida, Crassiclitellata, Acanthodrilidae): a new Mexican earthworm with uncommon characters, revealed by a preliminary revision of subfamily Acanthodrilinae.

    PubMed

    Fragoso, Carlos; Rojas, Patricia

    2016-01-01

    A new acanthodriline earthworm species, Lavellodrilus notosetosus sp. nov., is described from tropical rain forests of southern Mexico. The new species is placed within the genus Lavellodrilus by the presence of mesial spermathecal pores. It is separated from other species of the genus by the dorsal location of setae cd in most of the body, last hearts in segment 13, first intestinal segment in 20 and genital setae in segment 12. A preliminary morphological revision of all genera and species of Acanthodrilinae was undertaken in order to: i) evaluate if the mesial spermathecal pores justify the status of Lavellodrilus, ii) determine how common (expressed as percentages of species having the character) the diagnostic characters of the new species are in the subfamily, iii) clarify if these characters exhibit a geographical pattern, and iv) contribute towards a comprehensive analysis of the Acanthodrilinae. In this revision, species were separated in nine geographical regions: USA, northern Mexico, southern Mexico, Caribbean Islands (northern hemisphere), and South America, South Africa, Madagascar, Australia, New Zealand, New Caledonia and Antarctic Islands (southern hemisphere). As a result of the revision it was found that among the 511 recognized species of Acanthodrilinae only 11 species have a mesial location of the spermathecal pores, in two cases probably representing monophyletic groups (Lavellodrilus and a group of South African Parachilota species). It was also found that the distinguishing characters in L. notosetosus sp. nov., notably the location of last hearts, genital setae and the first intestinal segment, are uncommon characters in the acanthodriline earthworm fauna of southern Mexico and Central America, but more frequent in North America, the Caribbean, and the southern hemisphere. We conclude that the acanthodrilines from the northern hemisphere are morphologically more similar to those from Australia, New Zealand, and New Caledonia than to those

  17. Detection of Common, Emerging and Uncommon VP4, and VP7 Human Group A Rotavirus Genotypes from Urban Sewage Samples in Uruguay.

    PubMed

    Tort, Luis Fernando Lopez; Victoria, Matías; Lizasoain, Andrés; García, Mariana; Berois, Mabel; Cristina, Juan; Leite, José Paulo Gagliardi; Gómez, Mariela Martínez; Miagostovich, Marize Pereira; Colina, Rodney

    2015-12-01

    Environmental approach has proven to be a useful tool for epidemiological studies demonstrating through environmental studies the diversity of viruses circulating in a given population. The aim of this study was to perform a phylogenetic characterization of the group A rotavirus (RVA) glycoprotein (G)- and protease-sensitive (P)-genotypes obtained from sewage samples (n = 116) collected in six cities of Uruguay during March 2011 to April 2013. A worldwide standardized semi-nested multiplex RT-PCR (SNM RT-PCR) protocol directed against VP4 and VP7 genes were conducted for RVA detection and consensual DNA fragments were submitted to nucleotide sequencing. P and/or G genotype was successfully determined by phylogenetic analysis in 61% (n = 37) of the positive samples obtained by SNM RT-PCR (n = 61). The RVA genotypes were as follow: G1 (n = 2), G2 (n = 14), G3 (n = 5), G12 (n = 2), P[4] (n = 4), P[8] (n = 16), and P[3] (n = 2). Interestingly, through phylogenetic analysis, emerging, and uncommon human genotypes could be detected. Results obtained from the comparison of RVA genotypes detected in the current study and Uruguayan RVA strains previously described for contemporary clinical pediatric cases showed that monitoring sewage may be a good screening option for a rapid and economical overview of the circulating genotypes in the surrounding human population and a useful approximation to study RVA epidemiology in a future vaccine monitoring program. The present study represents the first report in Uruguay that describes the phylogenetic diversity of RVA from urban sewage samples.

  18. Nutritional Status of Maintenance Dialysis Patients: Low Lean Body Mass Index and Obesity Are Common, Protein-Energy Wasting Is Uncommon

    PubMed Central

    Koefoed, Mette; Kromann, Charles Boy; Juliussen, Sophie Ryberg; Hvidtfeldt, Danni; Ekelund, Bo; Frandsen, Niels Erik; Marckmann, Peter

    2016-01-01

    Background and Aims Maintenance dialysis patients are at increased risk of abnormal nutritional status due to numerous causative factors, both nutritional and non-nutritional. The present study assessed the current prevalence of protein-energy wasting, low lean body mass index and obesity in maintenance dialysis patients, and compared different methods of nutritional assessment. Methods In a cross-sectional study conducted in 2014 at Roskilde Hospital, Denmark, we performed anthropometry (body weight, skinfolds, mid-arm, waist, and hip circumferences), and determined plasma albumin and normalized protein catabolic rate in order to assess the prevalence of protein-energy wasting, low lean body mass index and obesity in these patients. Results Seventy-nine eligible maintenance dialysis patients participated. The prevalence of protein-energy wasted patients was 4% (95% CI: 2–12) as assessed by the coexistence of low lean body mass index and low fat mass index. Low lean body mass index was seen in 32% (95% CI: 22–44). Obesity prevalence as assessed from fat mass index was 43% (95% CI: 32–55). Coexistence of low lean body mass index and obesity was seen in 10% (95% CI: 5–19). The prevalence of protein-energy wasting and obesity varied considerably, depending on nutritional assessment methodology. Conclusions Our data indicate that protein-energy wasting is uncommon, whereas low lean body mass index and obesity are frequent conditions among patients in maintenance dialysis. A focus on how to increase and preserve lean body mass in dialysis patients is suggested in the future. In order to clearly distinguish between shortage, sufficiency and abundance of protein and/or fat deposits in maintenance dialysis patients, we suggest the simple measurements of lean body mass index and fat mass index. PMID:26919440

  19. Lavellodrilus notosetosus sp. nov. (Annelida, Crassiclitellata, Acanthodrilidae): a new Mexican earthworm with uncommon characters, revealed by a preliminary revision of subfamily Acanthodrilinae.

    PubMed

    Fragoso, Carlos; Rojas, Patricia

    2016-08-19

    A new acanthodriline earthworm species, Lavellodrilus notosetosus sp. nov., is described from tropical rain forests of southern Mexico. The new species is placed within the genus Lavellodrilus by the presence of mesial spermathecal pores. It is separated from other species of the genus by the dorsal location of setae cd in most of the body, last hearts in segment 13, first intestinal segment in 20 and genital setae in segment 12. A preliminary morphological revision of all genera and species of Acanthodrilinae was undertaken in order to: i) evaluate if the mesial spermathecal pores justify the status of Lavellodrilus, ii) determine how common (expressed as percentages of species having the character) the diagnostic characters of the new species are in the subfamily, iii) clarify if these characters exhibit a geographical pattern, and iv) contribute towards a comprehensive analysis of the Acanthodrilinae. In this revision, species were separated in nine geographical regions: USA, northern Mexico, southern Mexico, Caribbean Islands (northern hemisphere), and South America, South Africa, Madagascar, Australia, New Zealand, New Caledonia and Antarctic Islands (southern hemisphere). As a result of the revision it was found that among the 511 recognized species of Acanthodrilinae only 11 species have a mesial location of the spermathecal pores, in two cases probably representing monophyletic groups (Lavellodrilus and a group of South African Parachilota species). It was also found that the distinguishing characters in L. notosetosus sp. nov., notably the location of last hearts, genital setae and the first intestinal segment, are uncommon characters in the acanthodriline earthworm fauna of southern Mexico and Central America, but more frequent in North America, the Caribbean, and the southern hemisphere. We conclude that the acanthodrilines from the northern hemisphere are morphologically more similar to those from Australia, New Zealand, and New Caledonia than to those

  20. Voriconazole-Induced Periostitis Mimicking Chronic Graft-versus-Host Disease after Allogeneic Stem Cell Transplantation.

    PubMed

    Sweiss, Karen; Oh, Annie; Rondelli, Damiano; Patel, Pritesh

    2016-01-01

    Voriconazole is an established first-line agent for treatment of invasive fungal infections in patients undergoing allogeneic stem cell transplantation (ASCT). It is associated with the uncommon complication of periostitis. We report this complication in a 58-year-old female undergoing HSCT. She was treated with corticosteroids with minimal improvement. The symptoms related to periostitis can mimic chronic graft-versus-host disease in patients undergoing HSCT and clinicians should differentiate this from other diagnoses and promptly discontinue therapy.

  1. Voriconazole-Induced Periostitis Mimicking Chronic Graft-versus-Host Disease after Allogeneic Stem Cell Transplantation

    PubMed Central

    Oh, Annie; Rondelli, Damiano; Patel, Pritesh

    2016-01-01

    Voriconazole is an established first-line agent for treatment of invasive fungal infections in patients undergoing allogeneic stem cell transplantation (ASCT). It is associated with the uncommon complication of periostitis. We report this complication in a 58-year-old female undergoing HSCT. She was treated with corticosteroids with minimal improvement. The symptoms related to periostitis can mimic chronic graft-versus-host disease in patients undergoing HSCT and clinicians should differentiate this from other diagnoses and promptly discontinue therapy. PMID:27403356

  2. MICA∗078: A novel allele identified in a Moroccan individual affected by celiac disease.

    PubMed

    Piancatelli, Daniela; Oumhani, Khadija; Benelbarhdadi, Imane; Del Beato, Tiziana; Colanardi, Alessia; Sebastiani, Pierluigi; Tessitore, Alessandra; El Aouad, Rajae; Essaid, Abdellah

    2015-06-01

    A novel MICA allele, MICA(∗)078, has been identified during HLA/MICA high resolution typing of Moroccan patients with celiac disease. MICA(∗)078 shows an uncommon variation at a highly conserved nucleotide position (nt 493, G → A), resulting in one amino acid change at codon 142 (V → I) of MICA gene (compared to MICA(∗)002:01), located in the α2-domain, in which V142 is the common residue.

  3. Neurologic Diseases

    MedlinePlus

    ... muscular dystrophy Problems with the way the nervous system develops, such as spina bifida Degenerative diseases, where nerve cells are damaged or die, such as Parkinson's disease and Alzheimer's disease Diseases of the blood vessels that supply ...

  4. Lymphatic filariasis: disease outbreaks in military deployments from World War II.

    PubMed

    Leggat, Peter A; Melrose, Wayne

    2005-07-01

    Lymphatic filariasis (LF) is the second most common parasitic disease worldwide, after malaria. It should always be considered in the differential diagnosis for military personnel returning from disease-endemic areas. Numerous outbreaks of LF have been reported in military deployments from World War II. In contrast to the presentation of LF in indigenous populations, which often involves such uncommon complications as elephantiasis and hydrocele, the clinical presentation of LF in military personnel can vary widely and is often vague and nondescript. Common symptoms are pain and swelling of the genitalia, closely followed by lymphangitis of the arms and legs. All three species produce similar disease.

  5. Laparoscopic Pancreaticoduodenectomy for the Management of Localized Crohn's Disease of the Duodenum.

    PubMed

    Xingjun, Guo; Feng, Zhu; Min, Wang; Renyi, Qin

    2016-08-01

    Crohn's disease of the duodenum is an uncommon condition. Our case was an extremely rare manifestation of Crohn's disease, who presented with obstruction of the pylorus and the first and the second parts of the duodenum. Because of the severity of the obstruction, he underwent laparoscopic pancreaticoduodenectomy. Postoperative pancreatic leakage and bowel fistula were not observed, and there was no morbidity during the follow-up period. There was also no disturbance in digestive function, postoperatively. This is the first case employing laparoscopic pancreaticoduodenectomy to cure benign lesions leading to duodenal obstruction. Minimally invasive laparoscopic pancreaticoduodenectomy technology shows a very big advantage in treating this rare benign Crohn's disease.

  6. Laparoscopic Pancreaticoduodenectomy for the Management of Localized Crohn's Disease of the Duodenum.

    PubMed

    Xingjun, Guo; Feng, Zhu; Min, Wang; Renyi, Qin

    2016-08-01

    Crohn's disease of the duodenum is an uncommon condition. Our case was an extremely rare manifestation of Crohn's disease, who presented with obstruction of the pylorus and the first and the second parts of the duodenum. Because of the severity of the obstruction, he underwent laparoscopic pancreaticoduodenectomy. Postoperative pancreatic leakage and bowel fistula were not observed, and there was no morbidity during the follow-up period. There was also no disturbance in digestive function, postoperatively. This is the first case employing laparoscopic pancreaticoduodenectomy to cure benign lesions leading to duodenal obstruction. Minimally invasive laparoscopic pancreaticoduodenectomy technology shows a very big advantage in treating this rare benign Crohn's disease. PMID:27574357

  7. Kimura’s Disease: A Rare Cause of Chronic Lymphadenopathy in a Child

    PubMed Central

    SNEHA, Latha Magatha; NAGARAJAN, Vinoth Ponnurangam; KARMEGARAJ, Balaganesh; RAO, Shalini; MANIPRIYA, Ravindran; SCOTT, Julius Xavier

    2015-01-01

    Kimura’s disease is an uncommon entity that affects adults, with a predilection for the Asian population. This may rarely be encountered in children, and the knowledge of this fact is essential to rule out the remote possibility of Kimura’s disease in children with a slow-growing painless mass in the head and neck region. In this case report, we document this disease in an 8-year-old boy with a slow-growing swelling in the right posterior auricular region. PMID:26023299

  8. Chylous ascites in a cheetah (Acinonyx jubatus) with venoocclusive liver disease.

    PubMed

    Terrell, Scott P; Fontenot, Deidre K; Miller, Michele A; Weber, Martha A

    2003-12-01

    An 11-yr-old female cheetah (Acinonyx jubatus) was diagnosed clinically with hepatic and renal disease and euthanatized after an extended illness. Postmortem examination revealed 8-10 L of milky white fluid in the abdominal cavity and markedly dilated lymphatic vessels within the intestinal mesentery. The abdominal fluid was a chylous effusion based on the cytologic predominance of lymphocytes and macrophages and comparison of cholesterol and triglyceride levels in the fluid and in serum. Gross and histopathologic lesions in the liver were consistent with a diagnosis of venoocclusive liver disease. Chylous ascites is uncommon with human chronic liver disease and is rarely identified in animals.

  9. Current Status of Therapy in Autoimmune Liver Disease

    PubMed Central

    Al-Harthi, Nadya; Heathcote, E. Jenny

    2009-01-01

    Therapeutic strategies for autoimmune liver diseases are increasingly established. Although proportionately uncommon, specialist centers have with time refined the best approaches for each disease, based on an improved understanding of the spectrum of presentation. The major treatment aims are to prevent end-stage liver disease and its associated complications. As a result of drugs such as ursodeoxycholic acid, predniso(lo)ne and azathioprine, both primary biliary cirrhosis and autoimmune hepatitis are now less commonly indications for liver transplantation. Unfortunately, the same inroads in treatment efficacy have as yet not been made for primary sclerosing cholangitis, although the recognition that a subset of patients may have a treatable secondary sclerosing cholangitis (IgG4 related) is helping a proportion. With better biological understanding, more specific interventions are expected that will benefit all those with autoimmune liver diseases. PMID:21180531

  10. Cardiovascular involvement in Behçet's disease.

    PubMed

    Sezen, Yusuf; Buyukhatipoglu, Hakan; Buyukatipoglu, Hakan; Kucukdurmaz, Zekeriya; Geyik, Ramazan

    2010-01-01

    Behçet's disease is a chronic relapsing systemic vasculitis that can involve almost every organ and systems in the body with extremely different diverse manifestations. Cardiovascular involvement is one of these manifestations, the involvement of which might present in various patterns in itself. Cardiovascular involvement is relatively uncommon in Behçet's disease; however, Behçet's disease is relatively rather common in certain parts of the world. Therefore, especially in these locations recognizing such miscellaneous presentations are of critical importance, since cardiovascular involvements exceed other presentation in mortality and morbidity rates. Based on these facts, in this review, we summarized the cardiovascular involvements and its different manifestations in Behçet's disease. PMID:19830382

  11. Surgery for inflammatory bowel disease in Singapore.

    PubMed

    Nyam, D C; Ho, Y H; Seow-Choen, F; Leong, A P; Parry, B R; Ho, M S; Goh, H S

    1996-10-01

    Inflammatory bowel disease is uncommon in Asians and reports of surgery in these populations are rare. Eighty-two patients with inflammatory bowel disease were seen in the Department of Colorectal Surgery over a five-year period (1989-1994). Twenty-three patients underwent surgery for their disease. There were 12 males and 11 females with 16 Chinese, 4 Indians and 3 Malays. Twelve had Crohn's disease and 11, ulcerative colitis. The majority of patients with Crohn's disease had emergency surgery for bleeding, perforation, abdominal masses and intestinal fistulae. Fifty percent of these had the diagnosis made intraoperatively or post-operatively. Surgery for ulcerative colitis was indicated because of multiple relapses, non-response to medical treatment, side effects of therapy or malignant change. The median age at surgery of patients with Crohn's disease and ulcerative colitis was 39 years (range 24-84) and 40 (range 18-60) respectively. The median follow-up was 22.4 months (range 9-50). The results of surgical therapy in these patients show that surgery when indicated can be done with minimum morbidity and mortality.

  12. Lyme disease in the United Kingdom.

    PubMed

    Dubrey, Simon W; Bhatia, Ajay; Woodham, Sarah; Rakowicz, Wojtek

    2014-01-01

    Lyme disease, while still an uncommon disease in the UK, is on the increase. Case numbers have increased by 3.6-fold since 2001, with over 950 cases reported by the Health Protection Agency (HPA) in 2011, compared with less than 500 cases annually pre-2004. HPA indications of the true incidence are suggested to be closer to 3000 cases/year, of which around 82% of cases are indigenously acquired. Three genospecies, Borrelia burgdorferi sensu stricto, Borrelia afzelli and Borrelia garinii, represent the predominant pathogenic variants in the UK. Erythema migrans is the commonest manifestation, occurring in 60%-91% of cases. In the UK, neuroborelliosis is the most common complication, while myocarditis is unusual, and death from either conduction disease or carditis is extremely rare. The role of Borrelia infection in chronic dilated cardiomyopathy in the UK remains unproven. Controversy over the existence of either 'chronic Lyme disease' and/or 'post-Lyme disease syndrome' continues unabated. National medical societies, patient advocacy groups, insurance companies, lawyers, doctors, the private health medical sector and scientific journals have all become embroiled in this bitter controversy. New developments include diagnostic tests able to detect Lyme disease at an earlier stage, shorter durations of antibiotic therapy and potential advances in vaccines against Borrelia.

  13. Lyme disease in the United Kingdom.

    PubMed

    Dubrey, Simon W; Bhatia, Ajay; Woodham, Sarah; Rakowicz, Wojtek

    2014-01-01

    Lyme disease, while still an uncommon disease in the UK, is on the increase. Case numbers have increased by 3.6-fold since 2001, with over 950 cases reported by the Health Protection Agency (HPA) in 2011, compared with less than 500 cases annually pre-2004. HPA indications of the true incidence are suggested to be closer to 3000 cases/year, of which around 82% of cases are indigenously acquired. Three genospecies, Borrelia burgdorferi sensu stricto, Borrelia afzelli and Borrelia garinii, represent the predominant pathogenic variants in the UK. Erythema migrans is the commonest manifestation, occurring in 60%-91% of cases. In the UK, neuroborelliosis is the most common complication, while myocarditis is unusual, and death from either conduction disease or carditis is extremely rare. The role of Borrelia infection in chronic dilated cardiomyopathy in the UK remains unproven. Controversy over the existence of either 'chronic Lyme disease' and/or 'post-Lyme disease syndrome' continues unabated. National medical societies, patient advocacy groups, insurance companies, lawyers, doctors, the private health medical sector and scientific journals have all become embroiled in this bitter controversy. New developments include diagnostic tests able to detect Lyme disease at an earlier stage, shorter durations of antibiotic therapy and potential advances in vaccines against Borrelia. PMID:24198341

  14. Fever revealing Behçet's disease: Two new cases.

    PubMed

    Harmouche, H; Maamar, M; Sahnoune, I; Tazi-Mezalek, Z; Aouni, M; Maaouni, A

    2007-03-01

    Behçet's disease (BD) is an uncommon cause of fever of unknown origin. We report two cases, both involving 42-year-old males, who initially presented with prolonged fever and who were ultimately diagnosed as having BD after a delay of 12 and 21 months, respectively. Both patients developed pulmonary aneurysms. Although fevers resolved after therapy, both patients died within the first year after diagnosis. Clinicians should be aware that long-term fever may be an inaugural sign of BD, especially in individuals living in countries along the ancient Silk Road or Mediterranean basin.

  15. Case Report: Psychosis in an adolescent with sickle cell disease

    PubMed Central

    Bakare, Muideen Owolabi

    2007-01-01

    Anxiety and depression are well documented complications of adjustment in sickle cell disease (SCD), but psychosis as a direct complication of or adjustment in SCD is uncommon. This article reports a case of psychosis in an adolescent with SCD. It advocates for further study on the relationship between psychosis and brain tissue silent-infarcts in these patients and the urge for alertness on the part of health care professionals regarding a holistic approach to the management of these children and adolescents with SCD. PMID:17683635

  16. Celiac Disease

    MedlinePlus

    ... small intestine. People with celiac disease cannot eat gluten, a protein found in wheat, barley, and rye. ... Disease Doctors treat celiac disease by prescribing a gluten-free diet. Symptoms significantly improve for most people ...

  17. Huntington's Disease

    MedlinePlus

    Huntington's disease (HD) is an inherited disease that causes certain nerve cells in the brain to waste ... express emotions. If one of your parents has Huntington's disease, you have a 50 percent chance of ...

  18. Wilson Disease

    MedlinePlus

    ... Share External Link Disclaimer Digestive Diseases Wilson Disease Alternate Versions Wilson Disease (444 KB) You can also ... things psychosis—when a person loses contact with reality Other Signs and Symptoms Other signs and symptoms ...

  19. Crohn's Disease

    MedlinePlus

    ... is one of a group of diseases called inflammatory bowel disease. Crohn's can affect any area from the mouth to the anus. It often affects the lower part of the small intestine called the ileum. The cause of Crohn's disease ...

  20. Pick disease

    MedlinePlus

    Semantic dementia; Dementia - semantic; Frontotemporal dementia; FTD; Arnold Pick disease; 3R tauopathy ... can help doctors tell Pick disease apart from Alzheimer disease. (Memory loss is often the main, and earliest, ...

  1. Erdheim–Chester disease (ECD)

    PubMed Central

    Adawi, Mohammad; Bisharat, Bishara; Bowirrat, Abdalla

    2016-01-01

    Abstract Background: Erdheim–Chester disease (ECD) is an uncommon aggressive, multisystem form of non-Langerhans’ cell histocytosis, which was firstly reported by Jakob Erdheim and William chester in 1930. The disease pathological features encompass an aberrant multiplication, overproduction and accumulation of white blood cells called histiocytes within multiple tissues and organs. Herein, we present a case of ECD owing to the rarity of this disease (roughly 550 cases have been described in the literature to date). Methods: We discussed the clinical course, diagnostic evaluations, and the possible treatments. Our case was encountered in an Arab male in his 30's who has suffered from an ongoing bones pain for years. Results: At our rheumatologic department we compiled his recent medical history, which consisted of diagnosis of central diabetes insipidus, hyperprolactinemia and secondary hypogonadism along with the previously conducted laboratory evaluations and imaging which brought to our mind the possibility of an infiltrative disease such as ECD. The diagnosis of ECD was done based on the combinations of pathognomonic radiographic osteosclerosis, neuroimaging, bones biopsies along with a careful clinical evaluation. Given the protean clinical manifestations, interferon-α was considered as our first line treatment of ECD, consequently our patient improved noticeably. Conclusion: Clinical presentation, imaging studies, distinctive pathological findings, followed by bone biopsy showed a non-Langerhans cell histiocytosis, supported by immunohistochemistry exams are essential for the diagnosis. Radiation therapy and Bisphosphonates in addition to cladribine, anakinra, infliximab and vemurafenib (BRAF Inhibitors) are currently advocated as promising second line treatment for patients whose response to interferon-α is unsatisfactory. PMID:27759649

  2. Bladder Diseases

    MedlinePlus

    ... frequent, urgent urination Bladder cancer Doctors diagnose bladder diseases using different tests. These include urine tests, x- ... National Institute of Diabetes and Digestive and Kidney Diseases

  3. Diagnosis and management of rare congenital nonimmune hemolytic disease.

    PubMed

    Gallagher, Patrick G

    2015-01-01

    Rare, congenital nonimmune hemolytic disorders of the erythrocyte, although uncommon, are important causes of anemia in the child and adult. These are a heterogeneous group of diseases that disrupt normal erythrocyte structure and function in varying ways. Predominant are abnormalities of hemoglobin stability, defects of erythrocyte metabolism, and disorders of erythrocyte hydration. Unstable hemoglobinopathies may lead to chronic or episodic hemolysis. Perturbation of critical enzymes of the Embden-Meyerhof pathway lead to altered erythrocyte metabolism and chronic hemolysis. Disorders of erythrocyte hydration are an under-recognized cause of hemolytic anemia. Beyond pathophysiologic mechanisms of disease, clinical, laboratory, and genetic heterogeneity characterize this group of disorders. Often, they are underdiagnosed or misdiagnosed. This review discusses pathophysiology, inheritance, clinical findings, laboratory manifestations, and management considerations in several rare nonimmune hemolytic diseases including the unstable hemoglobins, disorders of erythrocyte metabolism, and abnormalities of erythrocyte hydration.

  4. Langerhans cell histiocytosis with presentation as orbital disease.

    PubMed

    Bhanage, Ashok B; Katkar, Anand D; Ghate, Prajakta S

    2015-01-01

    Langerhans cell histiocytosis (LCH) is an uncommon multisystem disease with an abnormal polyclonal proliferation of Langerhans cells that invade various organs. In rare instances, the affection of the orbit is the only and the first symptom. We report an unusual case of an 18-month-old male who presented with orbital disease as the first symptom, in the form of chronic presentation of periorbital swelling (2 months duration) with acute inflammation (1-week duration) giving a suspicion of orbital cellulitis. Histopathology after radical excision confirmed the diagnosis of LCH and was advised initial therapy as per Histiocyte Society Evaluation and Treatment Guidelines (2009) but was lost to follow-up only reappearing with progression (multisystem LCH with risk organ involvement) and developed progressive active disease on treatment after 5 weeks. He was treated with salvage therapy for risk patients achieving complete remission. PMID:26167225

  5. Langerhans cell histiocytosis with presentation as orbital disease

    PubMed Central

    Bhanage, Ashok B.; Katkar, Anand D.; Ghate, Prajakta S.

    2015-01-01

    Langerhans cell histiocytosis (LCH) is an uncommon multisystem disease with an abnormal polyclonal proliferation of Langerhans cells that invade various organs. In rare instances, the affection of the orbit is the only and the first symptom. We report an unusual case of an 18-month-old male who presented with orbital disease as the first symptom, in the form of chronic presentation of periorbital swelling (2 months duration) with acute inflammation (1-week duration) giving a suspicion of orbital cellulitis. Histopathology after radical excision confirmed the diagnosis of LCH and was advised initial therapy as per Histiocyte Society Evaluation and Treatment Guidelines (2009) but was lost to follow-up only reappearing with progression (multisystem LCH with risk organ involvement) and developed progressive active disease on treatment after 5 weeks. He was treated with salvage therapy for risk patients achieving complete remission. PMID:26167225

  6. Heart Diseases

    MedlinePlus

    ... re like most people, you think that heart disease is a problem for others. But heart disease is the number one killer in the U.S. ... disability. There are many different forms of heart disease. The most common cause of heart disease is ...

  7. Bullous pemphigoid-like skin blistering disease in a rhesus macaque (Macaca mulatta).

    PubMed

    Kim, Jong-Min; Kim, Hyun-Je; Min, Byoung-Hoon; Shin, Jun-Seop; Jeong, Won Young; Lee, Ga Eul; Kim, Min Sun; Kim, Ju Eun; Park, Chung-Gyu

    2016-08-01

    Autoimmune bullous disease is very uncommon in non-human primates. We observed a bullous skin disease in a male rhesus monkey while conducting porcine islet xenotransplantation. Fifty days after the transplantation, multiple bullous skin lesions were observed. There was no mucosal involvement. Skin biopsy results demonstrated a subepidermal blister with no necrotic keratinocytes. Immunofluorescent staining showed linear IgG deposition at the roof of the blister. These skin lesions spontaneously disappeared. Considering these results, this monkey was diagnosed with bullous pemphigoid (BP). As far as we know, this is the first report of BP in non-human primates.

  8. Bullous pemphigoid-like skin blistering disease in a rhesus macaque (Macaca mulatta).

    PubMed

    Kim, Jong-Min; Kim, Hyun-Je; Min, Byoung-Hoon; Shin, Jun-Seop; Jeong, Won Young; Lee, Ga Eul; Kim, Min Sun; Kim, Ju Eun; Park, Chung-Gyu

    2016-08-01

    Autoimmune bullous disease is very uncommon in non-human primates. We observed a bullous skin disease in a male rhesus monkey while conducting porcine islet xenotransplantation. Fifty days after the transplantation, multiple bullous skin lesions were observed. There was no mucosal involvement. Skin biopsy results demonstrated a subepidermal blister with no necrotic keratinocytes. Immunofluorescent staining showed linear IgG deposition at the roof of the blister. These skin lesions spontaneously disappeared. Considering these results, this monkey was diagnosed with bullous pemphigoid (BP). As far as we know, this is the first report of BP in non-human primates. PMID:27373989

  9. Severe maxillofacial renal osteodystrophy in two patients with chronic kidney disease.

    PubMed

    Lopes, Maria Luiza Diniz de Sousa; Albuquerque, Assis Filipe Medeiros; Germano, Adriano Rocha; Queiroz, Lélia Maria Guedes; Miguel, Márcia Cristina da Costa; da Silveira, Éricka Janine Dantas

    2015-09-01

    Renal osteodystrophy (ROD) is the bone pathology that occurs as an uncommon complication related to the several alterations in mineral metabolism present in patients with chronic kidney disease (CKD). This paper describes two cases of severe ROD affecting the maxilla and mandible and causing facial disfigurement of a young and a middle-aged female patient with CKD. Both patients had a history of secondary hyperparathyroidism, previously treated by surgery. The pathogenesis of the disease, as well as its clinical, imaging, and histopathological features, and management of the patient are discussed. PMID:25784153

  10. Early Diagnosis and Management of Acute Vertigo from Vestibular Migraine and Ménière's Disease.

    PubMed

    Seemungal, Barry; Kaski, Diego; Lopez-Escamez, Jose Antonio

    2015-08-01

    Vestibular migraine is the most common cause of acute episodic vestibular symptoms after benign paroxysmal positional vertigo. In contrast, Ménière's disease is an uncommon disorder. For both conditions, early and accurate diagnosis (or its exclusion) enables the correct management of patients with acute episodic vestibular symptoms. Long-term management of migraine requires changes in lifestyle to avoid triggers of migraine and/or prophylactic drugs if attacks become too frequent. The long-term management of Ménière's disease also involves lifestyle changes (low salt diet), medications (betahistine, steroids), and ablative therapy applied to the diseased ear (eg, intratympanic gentamicin).

  11. Introducing Polyautoimmunity: Secondary Autoimmune Diseases No Longer Exist

    PubMed Central

    Rojas-Villarraga, Adriana; Amaya-Amaya, Jenny; Rodriguez-Rodriguez, Alberto; Mantilla, Rubén D.; Anaya, Juan-Manuel

    2012-01-01

    Similar pathophysiological mechanisms within autoimmune diseases have stimulated searches for common genetic roots. Polyautoimmunity is defined as the presence of more than one autoimmune disease in a single patient. When three or more autoimmune diseases coexist, this condition is called multiple autoimmune syndrome (MAS). We analyzed the presence of polyautoimmunity in 1,083 patients belonging to four autoimmune disease cohorts. Polyautoimmunity was observed in 373 patients (34.4%). Autoimmune thyroid disease (AITD) and Sjögren's syndrome (SS) were the most frequent diseases encountered. Factors significantly associated with polyautoimmunity were female gender and familial autoimmunity. Through a systematic literature review, an updated search was done for all MAS cases (January 2006–September 2011). There were 142 articles retrieved corresponding to 226 cases. Next, we performed a clustering analysis in which AITD followed by systemic lupus erythematosus and SS were the most hierarchical diseases encountered. Our results indicate that coexistence of autoimmune diseases is not uncommon and follows a grouping pattern. Polyautoimmunity is the term proposed for this association of disorders, which encompasses the concept of a common origin for these diseases. PMID:22454759

  12. Kimura disease

    PubMed Central

    AlGhamdi, Fares E.; Al-Khatib, Talal A.; Marzouki, Hani Z.; AlGarni, Mohammed A

    2016-01-01

    Kimura disease is a chronic inflammatory disease that mainly manifests as a lump in the cervical region. Although the underlying pathophysiology is not clear yet, the diagnosis can be established based on specific histopathological characteristics. The first case of this disease was described in China, as well as the majority of subsequent cases that were also described in the Far East countries made Kimura disease traditionally a disease of adult patients of Asian descent. This report describes the occurrence of Kimura disease in pediatric non-Asian patient with a similar clinicopathologic presentation. PMID:26905356

  13. Celiac Disease

    MedlinePlus

    ... immune disease in which people can't eat gluten because it will damage their small intestine. If you have celiac disease and eat foods with gluten, your immune system responds by damaging the small ...

  14. Menkes Disease

    MedlinePlus

    ... therapy approaches to Menkes disease. 3 1. Kaler, SG. The neurology of STPAT copper transporter disease: emerging ... Reviews Neurology , 2001:7:15-19.. 2. Kaler SG, et al. Neonatal Diagnosis and Treatment of Menkes ...

  15. Sandhoff Disease

    MedlinePlus

    ... Sandhoff Disease? Sandhoff disease is a rare, inherited lipid storage disorder that progressively destroys nerve cells in ... results in the harmful accumulation of certain fats (lipids) in the brain and other organs of the ...

  16. Gaucher Disease

    MedlinePlus

    ... one of the inherited metabolic disorders known as lipid storage diseases. Lipids are fatty materials that include oils, fatty acids, ... research to find ways to treat and prevent lipid storage disorders such as Gaucher disease. For example, ...

  17. Huntington disease

    MedlinePlus

    Huntington chorea ... Huntington disease is caused by a genetic defect on chromosome 4. The defect causes a part of ... 10 to 28 times. But in persons with Huntington disease, it is repeated 36 to 120 times. ...

  18. Digestive diseases

    MedlinePlus

    ... this page: //medlineplus.gov/ency/article/007447.htm Digestive diseases To use the sharing features on this page, please enable JavaScript. Digestive diseases are disorders of the digestive tract, which ...

  19. Tickborne Diseases

    MedlinePlus

    ... for tickborne diseases ranges from studying the basic biology of the microbes that cause these diseases to ... Nucleotide Polymorphism Phylogenetics & Ontology Proteomics & Protein Analysis Systems Biology Data Portals Software Applications BCBB Mobyle Interface Designer ( ...

  20. Graves' Disease

    MedlinePlus

    ... our online catalog. ​ Additional Links Hashimoto's Disease Hyperthyroidism Hypothyroidism Pregnancy & Thyroid Disease Thyroid Tests Find a Specialist ... everyone who receives radioactive iodine treatment eventually develops hypothyroidism, which occurs when the thyroid does not make ...

  1. Fifth disease

    MedlinePlus

    Parvovirus B19; Erythema infectiosum; Slapped cheek rash ... Fifth disease is caused by human parvovirus B19. It often affects preschoolers or school-age children during the spring. The disease spreads through the fluids in the nose and ...

  2. Celiac Disease

    MedlinePlus

    ... having celiac disease? Yes, you can have gluten sensitivity without the immune system attack on the small ... gluten causes in celiac disease. Symptoms of gluten sensitivity are generally milder than those seen in celiac ...

  3. Kawasaki disease

    MedlinePlus

    ... pubmed/23283289 . Mason JC. Rheumatic diseases of the cardiovascular system. In: Mann DL, Zipes DP, Libby P, Bonow RO, eds. Braunwald's Heart Disease: A Textbook of Cardiovascular Medicine . 10th ed. Philadelphia, PA: Elsevier Saunders; 2014: ...

  4. Bone Diseases

    MedlinePlus

    ... avoid smoking and drinking too much alcohol. Bone diseases can make bones easy to break. Different kinds ... break Osteogenesis imperfecta makes your bones brittle Paget's disease of bone makes them weak Bones can also ...

  5. Gaucher Disease

    MedlinePlus

    Gaucher disease is a rare, inherited disorder. It is a type of lipid metabolism disorder. If you have it, ... It usually starts in childhood or adolescence. Gaucher disease has no cure. Treatment options for types 1 ...

  6. Raynaud's Disease

    MedlinePlus

    Raynaud's disease is a rare disorder of the blood vessels, usually in the fingers and toes. It causes the ... secondary Raynaud's, which is caused by injuries, other diseases, or certain medicines. People in colder climates are ...

  7. Meniere's Disease

    MedlinePlus

    Meniere's disease is a disorder of the inner ear. It can cause severe dizziness, a roaring sound in your ... together over several days. Some people with Meniere's disease have "drop attacks" during which the dizziness is ...

  8. Legionnaires' Disease

    MedlinePlus

    Legionnaires' disease is a type of pneumonia caused by bacteria. You usually get it by breathing in mist from ... spread from person to person. Symptoms of Legionnaires' disease include high fever, chills, a cough, and sometimes ...

  9. Chagas Disease

    MedlinePlus

    Chagas disease is caused by a parasite. It is common in Latin America but not in the United States. ... nose, the bite wound or a cut. The disease can also spread through contaminated food, a blood ...

  10. Mitochondrial Diseases

    MedlinePlus

    ... disorder, something goes wrong with this process. Mitochondrial diseases are a group of metabolic disorders. Mitochondria are ... cells and cause damage. The symptoms of mitochondrial disease can vary. It depends on how many mitochondria ...

  11. Kidney Diseases

    MedlinePlus

    ... until you go to the bathroom. Most kidney diseases attack the nephrons. This damage may leave kidneys ... medicines. You have a higher risk of kidney disease if you have diabetes, high blood pressure, or ...

  12. Parasitic Diseases

    MedlinePlus

    ... a bug bite, or sexual contact. Some parasitic diseases are easily treated and some are not. Parasites ... be seen with the naked eye. Some parasitic diseases occur in the United States. Contaminated water supplies ...

  13. Liver Diseases

    MedlinePlus

    ... remove poisons. There are many kinds of liver diseases. Viruses cause some of them, like hepatitis A, ... the skin, can be one sign of liver disease. Cancer can affect the liver. You could also ...

  14. Endocrine Diseases

    MedlinePlus

    ... low, you may have a hormone disorder. Hormone diseases also occur if your body does not respond ... In the United States, the most common endocrine disease is diabetes. There are many others. They are ...

  15. Wilson Disease

    MedlinePlus

    Wilson disease is a rare inherited disorder that prevents your body from getting rid of extra copper. You need ... copper into bile, a digestive fluid. With Wilson disease, the copper builds up in your liver, and ...

  16. Addison Disease

    MedlinePlus

    ... blood pressure and water and salt balance. Addison disease happens if the adrenal glands don't make ... problem with your immune system usually causes Addison disease. The immune system mistakenly attacks your own tissues, ...

  17. Eye Diseases

    MedlinePlus

    ... the back of the eye Macular degeneration - a disease that destroys sharp, central vision Diabetic eye problems ... defense is to have regular checkups, because eye diseases do not always have symptoms. Early detection and ...

  18. Parkinson's Disease

    MedlinePlus

    Parkinson's disease (PD) is a type of movement disorder. It happens when nerve cells in the brain don't ... coordination As symptoms get worse, people with the disease may have trouble walking, talking, or doing simple ...

  19. Fifth Disease

    MedlinePlus

    Fifth disease is a viral infection caused by parvovirus B19. The virus only infects humans; it's not the same parvovirus that dogs and cats can get. Fifth disease mostly affects children. Symptoms can include a low ...

  20. Binswanger's Disease

    MedlinePlus

    ... and Information What is Binswanger's Disease? Binswanger's disease (BD), also called subcortical vascular dementia , is a type ... and brain tissue dies. A characteristic pattern of BD-damaged brain tissue can be seen with modern ...

  1. Kidney Disease

    MedlinePlus

    ... How Can I Help a Friend Who Cuts? Kidney Disease KidsHealth > For Teens > Kidney Disease Print A ... Syndrome Coping With Kidney Conditions What Do the Kidneys Do? You might never think much about some ...

  2. Addison disease

    MedlinePlus

    ... the adrenal glands (autoimmune disease) Infections such as tuberculosis , HIV, or fungal infections Hemorrhage into the adrenal glands Tumors Risk factors for the autoimmune type of Addison disease include ...

  3. Behcet's Disease

    MedlinePlus

    ... neurological disorders such as Behcet's disease. The National Human Genome Research Institute, another Institute of the National Institutes of Health, conducts research into the genomic basis of Behcet's disease. This research is aimed ...

  4. Lyme disease

    MedlinePlus

    ... The same disease occurs in many parts of Europe and Asia. In the United States, most Lyme ... Risk factors for Lyme disease include: Doing outside activities that increase tick exposure (for example, gardening, hunting, ...

  5. Lyme Disease

    MedlinePlus

    Lyme disease is a bacterial infection you get from the bite of an infected tick. The first symptom ... Muscle and joint aches A stiff neck Fatigue Lyme disease can be hard to diagnose because you may ...

  6. Colonic Diseases

    MedlinePlus

    ... where your body makes and stores stool. Many disorders affect the colon's ability to work properly. Some ... abdominal cramping and other symptoms Treatment for colonic diseases varies greatly depending on the disease and its ...

  7. Pneumococcal Disease

    MedlinePlus

    ... pneumococcal disease. Quick Facts About Pneumococcal Disease and Vaccination According to WHO, pneumococcal pneumonia and meningitis are ... of antibiotic treatment. (9, 10, 11) Conjugate pneumococcal vaccination is safe and effective for preventing severe childhood ...

  8. Gilbert disease

    MedlinePlus

    ... this page: //medlineplus.gov/ency/article/000301.htm Gilbert disease To use the sharing features on this page, please enable JavaScript. Gilbert disease is a common disorder passed down through ...

  9. Liver disease

    MedlinePlus

    ... this page: //medlineplus.gov/ency/article/000205.htm Liver disease To use the sharing features on this page, please enable JavaScript. The term "liver disease" applies to many conditions that stop the liver ...

  10. Crohn's disease and acute pancreatitis. A review of literature.

    PubMed

    Jasdanwala, Sarfaraz; Babyatsky, Mark

    2015-03-01

    Crohn's disease, a transmural inflammatory bowel disease, has many well-known extra-intestinal manifestations and complications. Although acute pancreatitis has a higher incidence in patients with Crohn's disease as compared to the general population, acute pancreatitis is still relatively uncommon in patients with Crohn's disease. Patients with Crohn's disease are at an approximately fourfold higher risk than the general population to develop acute pancreatitis. The risk of developing acute pancreatitis is higher in females as compared to males. Acute pancreatitis can occur at any age with higher incidence reported in patients in their 20s and between 40-50 years of age. The severity and prognosis of acute pancreatitis in patients with Crohn's disease is the same as in general population. Acute pancreatitis can occur before onset of intestinal Crohn's disease, this presentation being more common in children than adults. It can also occur as the presenting symptom. However, most commonly it occurs after intestinal symptoms have manifest with a mean time interval between the initial presentation and development of acute pancreatitis being 2 years. There are several etiological factors contributing to acute pancreatitis in patients with Crohn's disease. It is not clear whether acute pancreatitis is a direct extra-intestinal manifestation of Crohn's disease; however, majority of the cases of acute pancreatitis in patients with Crohn's disease are due to GS and medications. Drugs used for the treatment of Crohn's disease that have been reported to cause acute pancreatitis include 5-ASA agents, azathioprine and 6 mercaptopurine, metornidazole and corticosteroids. Recent evidence has emerged correlating both type 1 and 2 autoimmune pancreatitis with Crohn's disease. Understanding the association between the two disease entities is key to effectively manage patients with Crohn's disease and acute pancreatitis.

  11. Parkinson Disease.

    PubMed

    Capriotti, Teri; Terzakis, Kristina

    2016-06-01

    Parkinson disease (PD) is a progressive neurodegenerative disease that affects one million people in the United States. This article reviews the etiology and pathophysiology of PD, risk factors, clinical manifestations, diagnostic criteria, and treatment of this common disease. Implications for home care clinicians are included.

  12. Crinkle Disease

    Technology Transfer Automated Retrieval System (TEKTRAN)

    Crinkle disease of hop was first described in Europe in 1930, and subsequent reports of the disease appear in literature published in the 1960s and 1970s. The disease appears to be of little importance in most regions of hop production. A fastidious rickettsia-like organism (RLO) is thought to cau...

  13. Rare Diseases

    MedlinePlus

    ... Are often very complex Are often caused by changes in genes It can be hard to find a specialist who knows how to treat your rare disease. Disease advocacy groups, rare disease organizations, and genetics clinics may help you to find ...

  14. Behcet's Disease

    MedlinePlus

    ... with Behçet’s disease keep their joints strong and flexible. What Is the Prognosis for a Person With Behçet’s Disease? Most people with Behçet’s disease can lead productive lives and control symptoms with proper medicine, rest, and exercise. Doctors ...

  15. Lyme Disease.

    ERIC Educational Resources Information Center

    Taylor, George C.

    1991-01-01

    This overview of the public health significance of Lyme disease includes the microbiological specifics of the infectious spirochete, the entomology and ecology of the ticks which are the primary disease carrier, the clinical aspects and treatment stages, the known epidemiological patterns, and strategies for disease control and for expanded public…

  16. Meniere's Disease.

    ERIC Educational Resources Information Center

    Schessel, David A.

    1997-01-01

    Meniere's disease is characterized by unpredictable spells of severe vertigo and fluctuations in hearing and tinnitus. This article discusses the incidence of Meniere's disease, the present status of our understanding of this disease, controversies in its diagnosis, and the multiple therapeutic modalities recruited in its treatment. (Contains…

  17. [Non-Helicobacter pylori, Non-nonsteroidal Anti-inflammatory Drug Peptic Ulcer Disease].

    PubMed

    Chang, Young Woon

    2016-06-25

    Non-Helicobacter pylori, non-NSAID peptic ulcer disease (PUD), termed idiopathic PUD, is increasing in Korea. Diagnosis is based on exclusion of common causes such as H. pylori infection, infection with other pathogens, surreptitious ulcerogenic drugs, malignancy, and uncommon systemic diseases with upper gastrointestinal manifestations. The clinical course of idiopathic PUD is delayed ulcer healing, higher recurrence, higher re-bleeding after initial ulcer healing, and higher mortality than the other types of PUD. Genetic predisposition, older age, chronic mesenteric ischemia, cigarette smoking, concomitant systemic diseases, and psychological stress are considered risk factors for idiopathic PUD. Diagnosis of idiopathic PUD should systematically explore all possible causes. Management of this disease is to treat underlying disease followed by regular endoscopic surveillance to confirm ulcer healing. Continuous proton pump inhibitor therapy is an option for patients who respond poorly to the standard ulcer regimen.

  18. Oral Manifestations of Chronic Kidney Disease and Renal Secondary Hyperparathyroidism: A Comparative Review.

    PubMed

    Davis, Eric M

    2015-01-01

    Recent epidemiological studies have demonstrated that significant associations exist between oral disease and diseases involving non-oral tissues. Occasionally, the roles may be reversed and the oral cavity can be severely affected by systemic disease originating in another part of the body. Renal secondary hyperparathyroidism is a common endocrinopathy that occurs as a consequence of chronic azotemic kidney disease. Renal osteodystrophy, the most dramatic clinical consequence of renal secondary hyperparathyroidism is uncommon, but can result in demineralization of maxillofacial bones, loosening of teeth, and pathological jaw fractures. The purpose of this report is to update the current understanding of the pathophysiology of this endocrine disease and to compare the oral manifestations of renal secondary hyperparathyroidism in humans and companion animals. A 50-year review of the veterinary literature was undertaken to examine the clinical presentation of renal osteodystrophy in dogs, and to determine what clinical consequences of renal secondary hyperparathyroidism have been reported in domestic cats. PMID:26415385

  19. [Non-Helicobacter pylori, Non-nonsteroidal Anti-inflammatory Drug Peptic Ulcer Disease].

    PubMed

    Chang, Young Woon

    2016-06-25

    Non-Helicobacter pylori, non-NSAID peptic ulcer disease (PUD), termed idiopathic PUD, is increasing in Korea. Diagnosis is based on exclusion of common causes such as H. pylori infection, infection with other pathogens, surreptitious ulcerogenic drugs, malignancy, and uncommon systemic diseases with upper gastrointestinal manifestations. The clinical course of idiopathic PUD is delayed ulcer healing, higher recurrence, higher re-bleeding after initial ulcer healing, and higher mortality than the other types of PUD. Genetic predisposition, older age, chronic mesenteric ischemia, cigarette smoking, concomitant systemic diseases, and psychological stress are considered risk factors for idiopathic PUD. Diagnosis of idiopathic PUD should systematically explore all possible causes. Management of this disease is to treat underlying disease followed by regular endoscopic surveillance to confirm ulcer healing. Continuous proton pump inhibitor therapy is an option for patients who respond poorly to the standard ulcer regimen. PMID:27312831

  20. Comprehensive Carrier Screening and Molecular Diagnostic Testing for Recessive Childhood Diseases

    PubMed Central

    Kingsmore, Stephen

    2012-01-01

    Of 7,028 disorders with suspected Mendelian inheritance, 1,139 are recessive and have an established molecular basis. Although individually uncommon, Mendelian diseases collectively account for ~20% of infant mortality and ~18% of pediatric hospitalizations. Molecular diagnostic testing is currently available for only ~300 recessive disorders. Preconception screening, together with genetic counseling of carriers, has resulted in remarkable declines in the incidence of several severe recessive diseases including Tay-Sachs disease and cystic fibrosis. However, extension of preconception screening and molecular diagnostic testing to most recessive disease genes has hitherto been impractical. Recently, we reported a preconception carrier screen / molecular diagnostic test for 448 recessive childhood diseases. The current status of this test is reviewed here. Currently, this reports analytical validity of the comprehensive carrier test. As the clinical validity and clinical utility in the contexts described is ascertained, this article will be updated. PMID:22872815

  1. Comprehensive carrier screening and molecular diagnostic testing for recessive childhood diseases.

    PubMed

    Kingsmore, Stephen

    2012-01-01

    Of 7,028 disorders with suspected Mendelian inheritance, 1,139 are recessive and have an established molecular basis. Although individually uncommon, Mendelian diseases collectively account for ~20% of infant mortality and ~18% of pediatric hospitalizations. Molecular diagnostic testing is currently available for only ~300 recessive disorders. Preconception screening, together with genetic counseling of carriers, has resulted in remarkable declines in the incidence of several severe recessive diseases including Tay-Sachs disease and cystic fibrosis. However, extension of preconception screening and molecular diagnostic testing to most recessive disease genes has hitherto been impractical. Recently, we reported a preconception carrier screen / molecular diagnostic test for 448 recessive childhood diseases. The current status of this test is reviewed here. Currently, this reports analytical validity of the comprehensive carrier test. As the clinical validity and clinical utility in the contexts described is ascertained, this article will be updated. PMID:22872815

  2. Prion Diseases

    PubMed Central

    Geschwind, Michael D.

    2016-01-01

    Purpose of Review This article presents an update on the clinical aspects of human prion disease, including the wide spectrum of their presentations. Recent Findings Prion diseases, a group of disorders caused by abnormally shaped proteins called prions, occur in sporadic (Jakob-Creutzfeldt disease), genetic (genetic Jakob-Creutzfeldt disease, Gerstmann-Sträussler-Scheinker syndrome, and fatal familial insomnia), and acquired (kuru, variant Jakob-Creutzfeldt disease, and iatrogenic Jakob-Creutzfeldt disease) forms. This article presents updated information on the clinical features and diagnostic methods for human prion diseases. New antemortem potential diagnostic tests based on amplifying prions in order to detect them are showing very high specificity. Understanding of the diversity of possible presentations of human prion diseases continues to evolve, with some genetic forms progressing slowly over decades, beginning with dysautonomia and neuropathy and progressing to a frontal-executive dementia with pathology of combined prionopathy and tauopathy. Unfortunately, to date, all human prion disease clinical trials have failed to show survival benefit. A very rare polymorphism in the prion protein gene recently has been identified that appears to protect against prion disease; this finding, in addition to providing greater understanding of the prionlike mechanisms of neurodegenerative disorders, might lead to potential treatments. Summary Sporadic Jakob-Creutzfeldt disease is the most common form of human prion disease. Genetic prion diseases, resulting from mutations in the prion-related protein gene (PRNP), are classified based on the mutation, clinical phenotype, and neuropathologic features and can be difficult to diagnose because of their varied presentations. Perhaps most relevant to this Continuum issue on neuroinfectious diseases, acquired prion diseases are caused by accidental transmission to humans, but fortunately, they are the least common form and

  3. Atypical radiological findings in achondroplasia with uncommon mutation of the fibroblast growth factor receptor-3 (FGFR-3) gene (Gly to Cys transition at codon 375)

    SciTech Connect

    Nishimuri, Gen; Fukushima, Yoshimitsu; Ohashi, Hirofumi; Ikegawa, Shiro

    1995-11-20

    The recent discovery of mutations in the FGFR-3 (fibroblast growth factor receptor-3) gene (FGFR3) as the cause of achondroplasia has provided new insight into understanding genetic diseases. It was surprising from the viewpoint of molecular genetics that most patients with achondroplasia showed the same mutation at nucleotide 1138, leading to a single amino acid substitution from glycine to arginine at codon 380 (Gly380Arg). All 39 patients examined by two groups had the Gly380Arg; 38 patients and the other demonstrated a G to A and a G to C transition at nucleotide 1138, respectively. Subsequently another group disclosed a G to A transition at the same nucleotide 1138 in 21/23 patients of diverse ethnic origin, although mutations were not identified in two patients. To date, a total of 193 patients with the mutation of the G380Arg have been reported; a single patient with another mutation resulting in a substitution from glycine to cysteine at codon 375 (Gly375Cys) has been described. The presence of this common mutation is consistent with the clinical fact that achondroplastic individuals show less phenotypic variability than is unusual for autosomal dominant diseases. We encountered a Japanese boy with the Gly375Cys. His mother with achondroplasia has the same mutation. The molecular investigation of these patients was reported elsewhere. Here we report the clinical and radiological findings in this boy who demonstrated some atypical manifestations from those of typical achondroplasia. 8 refs., 1 fig.

  4. Glomerular disease.

    PubMed

    Vaden, Shelly L

    2011-08-01

    Glomerular diseases are a leading cause of chronic kidney disease in dogs but seem to be less common in cats. Glomerular diseases are diverse, and a renal biopsy is needed to determine the specific glomerular disease that is present in any animal. Familial glomerulopathies occur in many breeds of dogs. However, most dogs with glomerular disease have acquired glomerular injury that is either immune-complex mediated or due to systemic factors, both of which are believed to be the result of a disease process elsewhere in the body (i.e., neoplastic, infectious, and noninfectious inflammatory disorders). A thorough clinical evaluation is indicated in all dogs suspected of having glomerular disease and should include an extensive evaluation for potential predisposing disorders. Nonspecific management of dogs with glomerular disease can be divided into 3 major categories: (1) treatment of potential predisposing disorders, (2) management of proteinuria, and (3) management of uremia and other complications of glomerular disease and chronic kidney disease. Specific management of specific glomerular diseases has not been fully studied in dogs. However, it may be reasonable to consider immunosuppressive therapy in dogs that have developed a form of glomerulonephritis secondary to a steroid-responsive disease (e.g., systemic lupus erythematosus) or have immune-mediated lesions that have been documented in renal biopsy specimens. Appropriate patient monitoring during therapy is important for maximizing patient care. The prognosis for dogs and cats with glomerular disease is variable and probably dependent on a combination of factors. The purpose of this article is to discuss the general diagnosis and management of dogs with glomerular disease. PMID:21782143

  5. Secondary causes of nonalcoholic fatty liver disease

    PubMed Central

    Kneeman, Jacob M.; Misdraji, Joseph

    2012-01-01

    Nonalcoholic fatty liver disease (NAFLD) is becoming the most common cause of chronic liver disease in the developing world, found in 17-30% of the population in Western countries and 2-4% worldwide. Defined as the accumulation of fatty acid content greater than 5% of liver weight, NAFLD is a spectrum of disease ranging from simple steatosis to nonalcoholic steatohepatitis. The pathophysiology of NAFLD involves increased de novo synthesis of fatty acids in hepatocytes, the retention of lipids due to impaired hepatocyte apolipoprotein secretion or beta-oxidation. The well-known primary causes of NAFLD are obesity, type II diabetes, dyslipidemia, and insulin resistance. However, other less common conditions can cause a similar clinical and histologic picture, and should be considered in patients who present with NAFLD but do not have traditional risk factors. In this review, we discuss uncommon but important causes of NAFLD, including inborn errors of metabolism, iatrogenic causes, viral hepatitis, and nutritional disorders to provide practicing clinicians with an understanding of the less well recognized causes of NAFLD. PMID:22570680

  6. Corneal fungal disease in small animals.

    PubMed

    Andrew, Stacy E

    2003-08-01

    Corneal fungal diseases, including fungal keratitis and stromal abscess, are uncommon in small animals. Ocular infection secondary to systemic mycosis is reported far more frequently. Suspicion of a fungal corneal ulcer should be raised based on a history of underlying trauma, especially with plant material, geographic location, chronic use of topical antibiotics or corticosteroids, or an extremely prolonged course of disease despite appropriate treatment. Clinical signs observed with fungal keratitis may include blepharospasm, epiphora, miosis, corneal opacity, and vascularization. Unfortunately, none of these signs is specific to fungal infection. If fungal keratitis is suspected or confirmed, then aggressive medical therapy should be instituted. Medications used include topical antifungals, parasympatholytics, anticollagenases, and antibacterials as well as systemic anti-inflammatory drugs. Because there are very few fungicidal medications, the course of medical treatment for fungal corneal disease requires a prolonged duration with frequent re-examination and assessment. Surgical treatment is sometimes required to save the eye and vision. Surgeries to be considered include debridement, conjunctival graft placement, and corneal transplantation. PMID:14604093

  7. [Social diseases, civilization diseases or lifestyle diseases?].

    PubMed

    Betlejewski, Stansław

    2007-01-01

    In general, the development of civilization is viewed as a positive step for the well-being of the human species, leading to an increased duration and quality of life. The accelerated progress of civilization (mainly industrialization, urbanization and nutrition) has lead to new possibilities for adverse effects on human health. In former high civilization--like old Egypt, Greece, Roman, Chinese, Indian, Maya civilizations--the "modem civilization diseases" were unknown. Modem science through improved sanitation, vaccination and antibiotics as well as improved social and economical conditions, has eliminated the threat of death from most infectious diseases. In the years after World War II the social, economic and health conditions changed. Most deaths have resulted from heart disease, stroke, cancer and other diseases as a result of an inappropriate relationship of people with their environment and changed lifestyle. Lifestyle diseases are different from other diseases because they are potentially preventable and can be lowered with changes in diet, lifestyle and environment. PMID:18350729

  8. Averting the legacy of kidney disease - Focus on childhood.

    PubMed

    Ingelfinger, Julie R; Kalantar-Zadeh, Kamyar; Schaefer, Franz

    2016-03-01

    World Kidney Day 2016 focuses on kidney disease in childhood and the antecedents of adult kidney disease that can begin in earliest childhood. Chronic kidney disease (CKD) in childhood differs from that in adults, as the largest diagnostic group among children includes congenital anomalies and inherited disorders, with glomerulopathies and kidney disease in the setting of diabetes being relatively uncommon. In addition, many children with acute kidney injury will ultimately develop sequelae that may lead to hypertension and CKD in later childhood or in adult life. Children born early or who are small-for date newborns have relatively increased risk for the development of CKD later in life. Persons with a high-risk birth and early childhood history should be watched closely in order to help detect early signs of kidney disease in time to provide effective prevention or treatment. Successful therapy is feasible for advanced CKD in childhood; there is evidence that children fare better than adults, if they receive kidney replacement therapy including dialysis and transplantation, while only a minority of children may require this ultimate intervention Because there are disparities in access to care, effort is needed so that those children with kidney disease, wherever they live, may be treated effectively, irrespective of their geographic or economic circumstances. Our hope is that World Kidney Day will inform the general public, policy makers and caregivers about the needs and possibilities surrounding kidney disease in childhood. PMID:26997373

  9. Averting the legacy of kidney disease – focus on childhood

    PubMed Central

    Kalantar-Zadeh, Kamyar; Schaefer, Franz

    2016-01-01

    World Kidney Day 2016 focuses on kidney disease in childhood and the antecedents of adult kidney disease that can begin in earliest childhood. Chronic kidney disease (CKD) in childhood differs from that in adults, as the largest diagnostic group amongst children includes congenital anomalies and inherited disorders, with glomerulopathies and kidney disease in the setting of diabetes being relatively uncommon. In addition, many children with acute kidney injury will ultimately develop sequelae that may lead to hypertension and CKD in later childhood or in adult life. Children born early or who are small-for-date newborns have relatively increased risk for the development of CKD later in life. Persons with a high-risk birth and early childhood history should be watched closely to help to detect early signs of kidney disease in time to provide effective prevention or treatment. Successful therapy is feasible for advanced CKD in childhood; there is evidence that children fare better than adults, if they receive kidney replacement therapy including dialysis and transplantation, whilst only a minority of children may require this ultimate intervention. Because there are disparities in access to care, effort is needed so that children with kidney disease, wherever they live, may be treated effectively, irrespective of their geographic or economic circumstances. Our hope is that World Kidney Day will inform the general public, policymakers and caregivers about the needs and possibilities surrounding kidney disease in childhood. PMID:27247150

  10. Averting the legacy of kidney disease - focus on childhood

    PubMed Central

    Ingelfinger, J.R.; Kalantar-Zadeh, K.; Schaefer, F.

    2016-01-01

    World Kidney Day 2016 focuses on kidney disease in childhood and the antecedents of adult kidney disease that can begin in earliest childhood. Chronic kidney disease (CKD) in childhood differs from that in adults, in that the largest diagnostic group among children includes congenital anomalies and inherited disorders, with glomerulopathies and kidney disease as a consequence of diabetes being relatively uncommon. In addition, many children with acute kidney injury will ultimately develop sequelae that may lead to hypertension and CKD in later childhood or in adult life. Children born early or who are small-for-date newborns have relatively increased risk for the development of CKD later in life. Persons with a high-risk birth and early childhood history should be watched closely in order to help detect early signs of kidney disease in time to provide effective prevention or treatment. Successful therapy is feasible for advanced CKD in childhood; there is evidence that children fare better than adults, if they receive kidney replacement therapy including dialysis and transplantation, although only a minority of children may require this ultimate intervention. Because there are disparities in access to care, effort is needed so that children with kidney disease, wherever they live, may be treated effectively, irrespective of their geographic or economic circumstances. Our hope is that the World Kidney Day will inform the general public, policy makers and caregivers about the needs and possibilities surrounding kidney disease in childhood. PMID:27096201

  11. A child with a long-standing, intensely itching subcutaneous nodule on a thigh: an uncommon (?) reaction to commonly used vaccines.

    PubMed

    Bergfors, Elisabet; Lundmark, Katarzyna; Nyström Kronander, Ulla

    2013-01-24

    A 2-year-old girl presented with an intensely itching subcutaneous nodule on the front of a thigh. The nodule persisted for 10 months until it was excised. Subsequent investigation for malignancy and systemic disease showed no pathological findings. The diagnosis, persistent itching vaccination granuloma, was revealed by hazard almost 2 years after the onset of symptoms. Persistent itching subcutaneous nodules at the injection site for aluminium containing vaccines (mostly diphtheria-tetanus-pertussis combination vaccines for primary immunisation of infants) may appear with a long delay after the vaccination (months), cause prolonged itching (years) and are often associated with contact allergy to aluminium. The condition is poorly recognised in Health Care which may lead to prolonged symptoms and unnecessary investigations.

  12. A Case of Bordetella brochiseptica at a Military Medical Facility in Hawai'i: Phenotypic and Molecular Testing of an Uncommon Human Pathogen.

    PubMed

    Washington, Michael A; Agee, Willie A; Kajiura, Lauren; Hawley-Molloy, Joshua S; Staege, Catherine M; Barnhill, Jason C

    2015-07-01

    Bordetella bronchiseptica (B. bronchiseptica) is rarely implicated in human disease. Human infections typically occur in the context of immunosuppression and while human infection has been sporadically reported in the literature, the majority of these reports are largely descriptive and do not explore the molecular and phenotypic properties of the isolates in question. Here we report the isolation and characterization of a B. bronchiseptica isolate derived from an HIV positive patient at Tripler Army Medical Center on O'ahu. This case represents the first published report of human infection of B. bronchiseptica in the state of Hawai'i and the most detailed description of the biochemical and molecular features of a Hawaiian isolate to date. PMID:26225268

  13. A Case of Bordetella brochiseptica at a Military Medical Facility in Hawai‘i: Phenotypic and Molecular Testing of an Uncommon Human Pathogen

    PubMed Central

    Agee, Willie A; Kajiura, Lauren; Hawley-Molloy, Joshua S; Staege, Catherine M; Barnhill, Jason C

    2015-01-01

    Bordetella bronchiseptica (B. bronchiseptica) is rarely implicated in human disease. Human infections typically occur in the context of immunosuppression and while human infection has been sporadically reported in the literature, the majority of these reports are largely descriptive and do not explore the molecular and phenotypic properties of the isolates in question. Here we report the isolation and characterization of a B. bronchiseptica isolate derived from an HIV positive patient at Tripler Army Medical Center on O‘ahu. This case represents the first published report of human infection of B. bronchiseptica in the state of Hawai‘i and the most detailed description of the biochemical and molecular features of a Hawaiian isolate to date. PMID:26225268

  14. Gaucher disease.

    PubMed

    Nagral, Aabha

    2014-03-01

    Gaucher disease is the commonest lysosomal storage disease seen in India and worldwide. It should be considered in any child or adult with an unexplained splenohepatomegaly and cytopenia which are seen in the three types of Gaucher disease. Type 1 is the non-neuronopathic form and type 2 and 3 are the neuronopathic forms. Type 2 is a more severe neuronopathic form leading to mortality by 2 years of age. Definitive diagnosis is made by a blood test-the glucocerebrosidase assay. There is no role for histological examination of the bone marrow, liver or spleen for diagnosis of the disease. Molecular studies for mutations are useful for confirming diagnosis, screening family members and prognosticating the disease. A splenectomy should not be performed except for palliation or when there is no response to enzyme replacement treatment or no possibility of getting any definitive treatment. Splenectomy may worsen skeletal and lung manifestations in Gaucher disease. Enzyme replacement therapy (ERT) has completely revolutionized the prognosis and is now the standard of care for patients with this disease. Best results are seen in type 1 disease with good resolution of splenohepatomegaly, cytopenia and bone symptoms. Neurological symptoms in type 3 disease need supportive care. ERT is of no benefit in type 2 disease. Monitoring of patients on ERT involves evaluation of growth, blood counts, liver and spleen size and biomarkers such as chitotriosidase which reflect the disease burden. Therapy with ERT is very expensive and though patients in India have so far got the drug through a charitable access programme, there is a need for the government to facilitate access to treatment for this potentially curable disease. Bone marrow transplantation is an inferior option but may be considered when access to expensive ERT is not possible. PMID:25755533

  15. Parathyroid disease.

    PubMed

    Wen, Hong Yan; Schumacher, H Ralph; Zhang, Li Yun

    2010-11-01

    Patients with parathyroid disease can have important musculoskeletal problems.Hypoparathyroidism can cause subcutaneous calcifications, tetany, muscle cramps,and paresthesias, but also myopathies and an ankylosing spondylitis-like back disease. Hypoparathyroidism can occur in SLE caused by antiparathyroid antibodies.Patients with hyperparathyroidism can develop bone disease with cysts, erosions,and deformities. They can also develop pseudogout, gout, myopathies, and tendon ruptures.

  16. Infectious disease

    NASA Technical Reports Server (NTRS)

    Pierson, Duane L.

    1990-01-01

    This is a collection of viewgraphs on the Johnson Space Center's work on infectious disease. It addresses their major concern over outbreaks of infectious disease that could jeopardize the health, safety and/or performance of crew members engaged in long duration space missions. The Antarctic environment is seen as an analogous location on Earth and a good place to carry out such infectious disease studies and methods for proposed studies as suggested.

  17. Huntington's Disease

    PubMed Central

    Finkbeiner, Steven

    2011-01-01

    Huntington's disease (HD) is the most common inherited neurodegenerative disease and is characterized by uncontrolled excessive motor movements and cognitive and emotional deficits. The mutation responsible for HD leads to an abnormally long polyglutamine (polyQ) expansion in the huntingtin (Htt) protein, which confers one or more toxic functions to mutant Htt leading to neurodegeneration. The polyQ expansion makes Htt prone to aggregate and accumulate, and manipulations that mitigate protein misfolding or facilitate the clearance of misfolded proteins tend to slow disease progression in HD models. This article will focus on HD and the evidence that it is a conformational disease. PMID:21441583

  18. [Wilson's disease].

    PubMed

    Moilanen, Veikko; Mäkisalo, Heikki

    2010-01-01

    Wilson's disease is a disorder of the liver's copper metabolism. Accumulation of copper causes liver and central nervous system damage. Wilson's disease should always be suspected, when a liver disease is detected in a child or an adolescent. The disease may also manifest itself as severe neurological or neuropsychiatric disorders. The diagnosis is often delayed despite the fact that the accumulation of copper in the body can be shown by various means. Early started medication will stop the accumulation of copper into the body. If the treatment is delayed or ineffective, liver transplantation is required.

  19. CD8 lymphocytosis in primary cytomegalovirus (CMV) infection of allograft recipients: expansion of an uncommon CD8+ CD57- subset and its progressive replacement by CD8+ CD57+ T cells.

    PubMed Central

    Labalette, M; Salez, F; Pruvot, F R; Noel, C; Dessaint, J P

    1994-01-01

    Allograft recipients undergoing cytomegalovirus infection present increased proportions of circulating CD8+ lymphocytes. A longitudinal study of 11 kidney and five liver allograft recipients with primary CMV infection but no other etiological factor of graft dysfunction revealed selective imbalances of peripheral blood CD8+ T cell subsets. Initially, CMV viraemia is associated with elevated CD8+bright T cell numbers and T cell activation. Activation markers fall to normal when viral cultures become negative (before the end of the first month). During the second to sixth month, most (12/16) patients keep up high CD8+ T cell counts (1050-2900 CD8+ cells/mm3), comprising an uncommon CD8+ T cell subset, as 45-73% of CD8+bright lymphocytes were CD3+ and TCR alpha beta+, but were not stained by anti-CD28, CD11b, CD16, CD56, and CD57 antibody. Unexpectedly, CD8+CD57+ T cells, a hallmark of CMV infection, do not appear until the second to sixth month of primary CMV infection, and their numbers increase progressively thereafter. They become the predominant CD8+ T cell subset after 6 months of infection and their persistence for several (up to 4) years is strongly correlated (r = 0.87) with expansion of CD8+ cells. By analysis with MoAbs, there was no bias towards the use of particular TCR-V beta gene families at any time of primary CMV infection. Persistence of CD8 lymphocytosis is thus directly related to the rate of expansion of an uncommon CD8+CD57- subset and its progressive replacement by CD8+CD57+ T cells that are chronically elicited by CMV. PMID:7511079

  20. Unusual Manifestations of Monoclonal Gammopathy: I. Ocular Disease

    PubMed Central

    Balderman, Sophia R.; Lichtman, Marshall A.

    2015-01-01

    Essential monoclonal gammopathy is usually an asymptomatic condition, the characteristics of which have been defined over approximately 70 years of study. It has a known population-attributable risk of undergoing clonal evolution to a progressive, symptomatic B-cell neoplasm. In a very small fraction of patients, the monoclonal immunoglobulin has biophysical characteristics that can lead to tissue deposition syndrome (e.g. Fanconi renal syndrome) or, by chance, have characteristics of an autoantibody that may inactivate critical proteins (e.g. acquired von Willebrand disease). In this report, we describe the very uncommon forms of ocular injury that may accompany essential monoclonal gammopathy, which include crystalline keratopathy, crystal-storing histiocytosis, hypercupremic keratopathy, and maculopathy. The first three syndromes result from uncommon physicochemical alterations of the monoclonal immunoglobulin that favor crystallization or exaggerated copper binding. The last-mentioned syndrome is of uncertain pathogenesis. These syndromes may result in decreased visual acuity. These ocular findings may lead, also, to the diagnosis of monoclonal gammopathy. PMID:26241228

  1. Combined X-ray, NMR, and Kinetic Analyses Reveal Uncommon Binding Characteristics of the Hepatitis C Virus NS3-NS4A Protease Inhibitor BI 201335*

    PubMed Central

    Lemke, Christopher T.; Goudreau, Nathalie; Zhao, Songping; Hucke, Oliver; Thibeault, Diane; Llinàs-Brunet, Montse; White, Peter W.

    2011-01-01

    Hepatitis C virus infection, a major cause of liver disease worldwide, is curable, but currently approved therapies have suboptimal efficacy. Supplementing these therapies with direct-acting antiviral agents has the potential to considerably improve treatment prospects for hepatitis C virus-infected patients. The critical role played by the viral NS3 protease makes it an attractive target, and despite its shallow, solvent-exposed active site, several potent NS3 protease inhibitors are currently in the clinic. BI 201335, which is progressing through Phase IIb trials, contains a unique C-terminal carboxylic acid that binds noncovalently to the active site and a bromo-quinoline substitution on its proline residue that provides significant potency. In this work we have used stopped flow kinetics, x-ray crystallography, and NMR to characterize these distinctive features. Key findings include: slow association and dissociation rates within a single-step binding mechanism; the critical involvement of water molecules in acid binding; and protein side chain rearrangements, a bromine–oxygen halogen bond, and profound pKa changes within the catalytic triad associated with binding of the bromo-quinoline moiety. PMID:21270126

  2. Models of marine molluscan diseases: Trends and challenges.

    PubMed

    Powell, Eric N; Hofmann, Eileen E

    2015-10-01

    management, manipulation of host abundance, and use of scavengers and filter feeders to limit the concentration of infective particles. (3) The details of host population processes and pathogen transmission dynamics are blended in models that evaluate the effects of natural selection and/or genetic modification in developing disease resistance in the host population. Application of gene-based models to marine diseases is only now beginning and represents a promising approach that may provide a mechanistic basis for managing marine diseases and their host populations. Overall disease models remain both uncommon and underutilized in addressing the needs for managing molluscan diseases and their host populations.

  3. Models of marine molluscan diseases: Trends and challenges.

    PubMed

    Powell, Eric N; Hofmann, Eileen E

    2015-10-01

    management, manipulation of host abundance, and use of scavengers and filter feeders to limit the concentration of infective particles. (3) The details of host population processes and pathogen transmission dynamics are blended in models that evaluate the effects of natural selection and/or genetic modification in developing disease resistance in the host population. Application of gene-based models to marine diseases is only now beginning and represents a promising approach that may provide a mechanistic basis for managing marine diseases and their host populations. Overall disease models remain both uncommon and underutilized in addressing the needs for managing molluscan diseases and their host populations. PMID:26239016

  4. [Cardiovascular disease in rheumatic diseases].

    PubMed

    Nasonov, E L; Popkova, T V; Novikova, D S

    2016-01-01

    The representatives of immunoinflammatory diseases are rheumatic ones, such as primarily rheumatoid arthritis, juvenile idiopathic arthritis, spondyloarthritis, psoriatic arthritis, systemic lupus erythematosus, and other systemic connective diseases, which are characterized by a high risk for untimely death. The high risk of untimely death in these diseases has been found to be associated with the severity of an immunoinflammatory process that gives rise to severe irreversible damage to vital organs and systems and with the development of a wide spectrum of comorbidities (infections, interstitial lung disease, malignant tumors, osteoporotic fractures, etc.). Among them, diseases of the cardiovascular system, which are most commonly caused by the early development and.accelerated progression of atherosclerotic coronary lesions, hold a central.position. The paper gives the data available in the recent literature on the impact.of antirheumatic therapy (disease-modifying antirheumatic drugs and biological agents) on' the cardiovascular system. PMID:27458622

  5. Alpers' Disease

    MedlinePlus

    ... caused by mutation in the gene for the mitochondrial DNA polymerase POLG. The disease occurs in about one in 100,000 persons. ... typically occur months before tissue samples show the mitochondrial DNA depletion, so ... with Alpers' disease develop symptoms in the first two years of ...

  6. Paget's disease.

    PubMed

    Bertoldi, I; Cantarini, L; Filippou, G; Frediani, B

    2014-01-01

    Paget's disease of bone is the most common metabolic bone disease after osteoporosis and affects 2-4% of adults over 55 years of age. Its etiology is only partly understood and includes both genetic and environmental factors. The disease may be asymptomatic and can be uncovered incidentally on x-ray or in biochemical tests performed for another condition. It can also manifest itself with bone pain, deformity, fracture or other complications. Paget's disease is diagnosed by x-rays and in general has very typical radiological features, but occasionally the clinical picture may be unusual and a differential diagnosis of sclerotic or lytic metastases needs to be considered. Plasma total alkaline phosphatase activity is the most clinically useful indicator of disease activity. It is elevated in most untreated patients, but may be within the normal range in patients with monostotic or limited disease. Bisphosphonate therapy is indicated for patients with symptoms and should also be considered in patients with disease sites that suggest a risk of complications, such as long bones, vertebrae or base of the skull. Orthopedic surgery in Paget's disease patients includes almost exclusively the correction of fractures and arthroplasty. PMID:25069498

  7. Kidney Disease

    MedlinePlus

    ... version of this page please turn Javascript on. Kidney Disease What is Kidney Disease? What the Kidneys Do Click for more information You have two ... damaged, wastes can build up in the body. Kidney Function and Aging Kidney function may be reduced ...

  8. Addison's Disease

    MedlinePlus

    ... is Addison’s disease? Addison’s disease affects your body’s adrenal glands. The adrenal glands are part of the endocrine system. The endocrine ... your moods, growth, metabolism, and tissue function. The adrenal glands are located just above your kidneys. They produce ...

  9. Endocrine Diseases

    MedlinePlus

    ... high or too low, you may have an endocrine disease or disorder. Endocrine diseases and disorders also occur if your body does not respond to hormones the way it is supposed to. Featured Topics Adrenal Insufficiency ... Topics Research Discoveries & News Children with Cushing ...

  10. Spinal Metastases of Extramammary Paget Disease with Radiologic-Pathologic Correlation

    PubMed Central

    Little, Jason T; Lehman, Vance T; Morris, Jonathan M; Lehman, Julia S; Diehn, Felix E

    2016-01-01

    Extramammary Paget disease (EMPD) is an uncommon malignancy. It manifests either in the primary form in the skin as an intraepithelial neoplasm, or in secondary form as pagetoid (intraepithelial) spread of an underlying internal carcinoma to the skin. Although local invasion and recurrence of primary extramammary Paget disease are relatively frequent, widespread metastases are rare. As such, there are very few reports and little characterization of the radiologic features of widespread spinal metastases. To our knowledge, there are no prior reports of a metastatic extramammary Paget disease presenting as a painful pathologic vertebral body compression fracture. We report the radiological features of a case of primary extramammary Paget disease with subsequent spinal metastases presenting as a painful compression fracture. PMID:27761174

  11. Burning Tongue as Initial Presentation of Celiac Disease in an Elderly Woman: A Case Report.

    PubMed

    Sherman, Andrea; Zamulko, Alla

    2016-06-01

    There are few reports in the literature where celiac disease presents with tongue manifestations, although atypical presentations of celiac disease are not uncommon. This case report highlights an atypical presentation of celiac disease in an elderly female. Our patient presented to clinic with complaints of a burning tongue for the past two years as well as occasional loose stools and fatigue. Work-up revealed iron deficiency anemia, zinc deficiency and an abnormal celiac panel. Complete symptom improvement was noted by 10 weeks into the initiation of a gluten free diet. Celiac disease can present at any age and should be considered as a differential in findings of malabsorption and gastrointestinal symptoms. PMID:27443108

  12. Diffuse parenchymal diseases associated with aluminum use and primary aluminum production.

    PubMed

    Taiwo, Oyebode A

    2014-05-01

    Aluminum use and primary aluminum production results in the generation of various particles, fumes, gases, and airborne materials with the potential for inducing a wide range of lung pathology. Nevertheless, the presence of diffuse parenchymal or interstitial lung disease related to these processes remains controversial. The relatively uncommon occurrence of interstitial lung diseases in aluminum-exposed workers--despite the extensive industrial use of aluminum--the potential for concurrent exposure to other fibrogenic fibers, and the previous use of inhaled aluminum powder for the prevention of silicosis without apparent adverse respiratory effects are some of the reasons for this continuing controversy. Specific aluminum-induced parenchymal diseases described in the literature, including existing evidence of interstitial lung diseases, associated with primary aluminum production are reviewed.

  13. Gaucher disease

    PubMed Central

    Rizk, Tamer M.; Ariganjoye, Rafiu O.; Alsaeed, Gihad I.

    2015-01-01

    We aim to describe an 8-year-old boy with an unusual clinical presentation of Gaucher disease (GD). Gaucher disease is a progressive lysosomal storage disorder due to deficiency of the specific enzyme glucocerebrosidase with varying clinical features, but often involving the monocytes-macrophages systems. This child ran a progressive course with a devastating outcome. Three distinct GD subtypes have been described with varying clinical features based on the presence or absence of neurologic involvement. Gaucher disease diagnosis is obtained via: enzyme activity assay, gene mutation study, bone marrow aspiration in addition to multiple other tests that have been successfully used in diagnosis of cases of GD. Treatment modalities include enzyme replacement treatment, substrate reduction therapy, bone marrow transplantation, blood transfusion, and surgery are available management modalities for GD. Gaucher disease is a chronic disease requiring a multidisciplinary team approach with regular follow up with multiple subspecialties. PMID:26166597

  14. Beryllium disease.

    PubMed Central

    Jones Williams, W.

    1988-01-01

    The increasing use of beryllium in a variety of industries continues to be a hazard. New cases are still being reported to the UK Beryllium Case Registry, now numbering 60 in the period 1945-1988. The majority of cases follow inhalation which results in acute beryllium disease (chemical pneumonitis) or more commonly chronic beryllium disease--a granulomatous pneumonitis. Granulomatous skin nodules also occur following local implantation. The clinical and radiological features are briefly described with the emphasis on pathology and immunology. Laser microprobe mass spectrometry analysis of tissue sections is a major advance in diagnosis. Detection of beryllium distinguishes the granulomas of chronic beryllium disease from other diseases, in particular sarcoidosis. The role of beryllium lymphocyte transformation tests is discussed. Chronic beryllium disease is steroid dependent and local excision of skin lesions appears to be curative. There is no evidence that beryllium is carcinogenic. Images Figure 1 PMID:3074283

  15. Alzheimer's disease.

    PubMed

    Scheltens, Philip; Blennow, Kaj; Breteler, Monique M B; de Strooper, Bart; Frisoni, Giovanni B; Salloway, Stephen; Van der Flier, Wiesje Maria

    2016-07-30

    Although the prevalence of dementia continues to increase worldwide, incidence in the western world might have decreased as a result of better vascular care and improved brain health. Alzheimer's disease, the most prevalent cause of dementia, is still defined by the combined presence of amyloid and tau, but researchers are gradually moving away from the simple assumption of linear causality as proposed in the original amyloid hypothesis. Age-related, protective, and disease-promoting factors probably interact with the core mechanisms of the disease. Amyloid β42, and tau proteins are established core cerebrospinal biomarkers; novel candidate biomarkers include amyloid β oligomers and synaptic markers. MRI and fluorodeoxyglucose PET are established imaging techniques for diagnosis of Alzheimer's disease. Amyloid PET is gaining traction in the clinical arena, but validity and cost-effectiveness remain to be established. Tau PET might offer new insights and be of great help in differential diagnosis and selection of patients for trials. In the search for understanding the disease mechanism and keys to treatment, research is moving increasingly into the earliest phase of disease. Preclinical Alzheimer's disease is defined as biomarker evidence of Alzheimer's pathological changes in cognitively healthy individuals. Patients with subjective cognitive decline have been identified as a useful population in whom to look for preclinical Alzheimer's disease. Moderately positive results for interventions targeting several lifestyle factors in non-demented elderly patients and moderately positive interim results for lowering amyloid in pre-dementia Alzheimer's disease suggest that, ultimately, there will be a future in which specific anti-Alzheimer's therapy will be combined with lifestyle interventions targeting general brain health to jointly combat the disease. In this Seminar, we discuss the main developments in Alzheimer's research. PMID:26921134

  16. Alzheimer's disease.

    PubMed

    Scheltens, Philip; Blennow, Kaj; Breteler, Monique M B; de Strooper, Bart; Frisoni, Giovanni B; Salloway, Stephen; Van der Flier, Wiesje Maria

    2016-07-30

    Although the prevalence of dementia continues to increase worldwide, incidence in the western world might have decreased as a result of better vascular care and improved brain health. Alzheimer's disease, the most prevalent cause of dementia, is still defined by the combined presence of amyloid and tau, but researchers are gradually moving away from the simple assumption of linear causality as proposed in the original amyloid hypothesis. Age-related, protective, and disease-promoting factors probably interact with the core mechanisms of the disease. Amyloid β42, and tau proteins are established core cerebrospinal biomarkers; novel candidate biomarkers include amyloid β oligomers and synaptic markers. MRI and fluorodeoxyglucose PET are established imaging techniques for diagnosis of Alzheimer's disease. Amyloid PET is gaining traction in the clinical arena, but validity and cost-effectiveness remain to be established. Tau PET might offer new insights and be of great help in differential diagnosis and selection of patients for trials. In the search for understanding the disease mechanism and keys to treatment, research is moving increasingly into the earliest phase of disease. Preclinical Alzheimer's disease is defined as biomarker evidence of Alzheimer's pathological changes in cognitively healthy individuals. Patients with subjective cognitive decline have been identified as a useful population in whom to look for preclinical Alzheimer's disease. Moderately positive results for interventions targeting several lifestyle factors in non-demented elderly patients and moderately positive interim results for lowering amyloid in pre-dementia Alzheimer's disease suggest that, ultimately, there will be a future in which specific anti-Alzheimer's therapy will be combined with lifestyle interventions targeting general brain health to jointly combat the disease. In this Seminar, we discuss the main developments in Alzheimer's research.

  17. Kimura’s Disease – An Unusual Presentation

    PubMed Central

    Banerjee, Praveer Kumar; Jain, Abhineet; D, Manjunath

    2016-01-01

    Introduction: Kimura’s disease is a rare chronic inflammatory disease of unknown etiology, presenting as painless subcutaneous nodules with lymphadenopathy and peripheral eosinophilia, mainly disturbing the head and neck region. It mainly affects Asian males in their 2nd to 4th decade of life. One such case of Kimura’s disease, which is uncommon in Indian natives, is reported. Case Report: A male patient presented with an insidious onset of a progressive painless disfiguring swelling over his nose since four years, which was associated with nasal obstruction and post aural swelling with a history of an inconclusive incisional biopsy. Clinical examination showed a bilobed subcutaneous swelling present over the nose and a collapsed nasal valve area on anterior rhinoscopy. FNAC was non-diagnostic and CT scan showed a mildly enhancing mass lesion over the external nose. Complete surgical excision was performed. Diagnosis was confirmed upon postoperative histopathology. During his 2nd week follow up, the patient had a small nasal recurrence, which was treated medically with oral steroids, cetirizine, and pentoxyphylline for 4 weeks. The patient was disease free for 6 months. Conclusion: Kimura’s disease, although difficult to diagnosis clinically, should be considered in the differential diagnosis of patients who have a primary lymphadenopathy with eosinophilia with or without subcutaneous nodules. It should be investigated accordingly as the disease has an indolent course and good prognosis. PMID:27429955

  18. Male fertility potential alteration in rheumatic diseases: a systematic review

    PubMed Central

    Tiseo, Bruno Camargo; Cocuzza, Marcello; Bonfá, Eloisa; Srougi, Miguel; Clovis, A

    2016-01-01

    ABSTRACT Background Improved targeted therapies for rheumatic diseases were developed recently resulting in a better prognosis for affected patients. Nowadays, patients are living longer and with improved quality of life, including fertility potential. These patients are affected by impaired reproductive function and the causes are often multifactorial related to particularities of each disease. This review highlights how rheumatic diseases and their management affect testicular function and male fertility. Materials and Methods A systematic review of literature of all published data after 1970 was conducted. Data was collected about fertility abnormalities in male patients with systemic lupus erythematosus, rheumatoid arthritis, dermatomyositis, ankylosing spondylitis, Behçet disease and gout. Two independent researchers carried out the search in online databases. Results A total of 19 articles were included addressing the following diseases: 7 systemic lupus erythematosus, 6 Behçet disease, 4 ankylosing spondylitis, 2 rheumatoid arthritis, 2 dermatomyositis and one gout. Systemic lupus erythematosus clearly affects gonadal function impairing spermatogenesis mainly due to antisperm antibodies and cyclophosphamide therapy. Behçet disease, gout and ankylosing spondylitis patients, including those under anti-TNF therapy in the latter disease, do not seem to have reduced fertility whereas in dermatomyositis, the fertility potential is hampered by disease activity and by alkylating agents. Data regarding rheumatoid arthritis is scarce, gonadal dysfunction observed as consequence of disease activity and antisperm antibodies. Conclusions Reduced fertility potential is not uncommon. Its frequency and severity vary among the different rheumatic diseases. Permanent infertility is rare and often associated with alkylating agent therapy. PMID:27120778

  19. Unusual presentation of Erdheim-Chester disease in a child with acute lymphoblastic leukemia

    PubMed Central

    Vallonthaiel, Archana George; Mridha, Asit Ranjan; Gamanagatti, Shivanand; Jana, Manisha; Sharma, Mehar Chand; Khan, Shah Alam; Bakhshi, Sameer

    2016-01-01

    Erdheim-Chester disease (ECD) is an uncommon, non-familial, non-Langerhans cell histiocytosis, which involves skeletal system and soft tissue usually in middle aged and elderly patients. The characteristic radiologic features include bilateral, symmetric cortical osteosclerosis of the diaphyseal and metaphyseal parts of the long bones, or bilateral symmetrically abnormal intense 99mTechnetium labelling of the metaphyseal-diaphyseal region of the long bones, and computed tomography scan findings of “coated aorta” or “hairy kidneys”. ECD in childhood with osteolytic lesion is extremely rare. We describe an unusual case with an expansile lytic bone lesion at presentation in a case of acute lymphoblastic leukemia.

  20. Isolated localization of Rosai Dorfman disease as renal mass: a case report and review of literature.

    PubMed

    El Majdoub, Aziz; El Houari, Aziza; Chbani, Laila; El Fatemi, Hinde; Khallouk, Abdelhak; Farih, Moulay Hassan

    2016-01-01

    We report a rare case of an elderly woman presented with right renal mass with invasion of renal vein and several small lymphadenopathy in the hilar area. The diagnosis of kidney cancer is suspected and the patient underwent open radical nephrectomy, surrenalectomy and lymphadenectomy dissection. The pathologic examinations find a rosai dorfman disease. This unusual benign entity is uncommon in the kidney, but in medical imaging, it may simulate an infiltrative renal neoplasm, especially a lymphoma or leukemia or even renal cell carcinoma. A comprehensive literature review was undertaken to summarize the clinical and pathologic features of this disorder. PMID:27642405

  1. Sterile subperiosteal fluid collections accompanying orbital wall infarction in sickle-cell disease.

    PubMed

    Huckfeldt, Rachel M; Shah, Ankoor S

    2014-10-01

    Infarction of the orbital wall is an uncommon manifestation of sickle cell disease (SCD) that may mimic an infectious process. We report a patient with two separate orbital infarctions with different presenting symptoms involving different bones. Radiologic-guided sampling of a periosteal fluid collection in the first episode showed likely sterile inflammatory exudates. This case highlights the range of findings in orbital wall infarction in SCD as well as helpful clinical and imaging entities that may differentiate infarction from infection, allowing early diagnosis and appropriate management.

  2. Unusual presentation of Erdheim-Chester disease in a child with acute lymphoblastic leukemia.

    PubMed

    Vallonthaiel, Archana George; Mridha, Asit Ranjan; Gamanagatti, Shivanand; Jana, Manisha; Sharma, Mehar Chand; Khan, Shah Alam; Bakhshi, Sameer

    2016-08-28

    Erdheim-Chester disease (ECD) is an uncommon, non-familial, non-Langerhans cell histiocytosis, which involves skeletal system and soft tissue usually in middle aged and elderly patients. The characteristic radiologic features include bilateral, symmetric cortical osteosclerosis of the diaphyseal and metaphyseal parts of the long bones, or bilateral symmetrically abnormal intense (99m)Technetium labelling of the metaphyseal-diaphyseal region of the long bones, and computed tomography scan findings of "coated aorta" or "hairy kidneys". ECD in childhood with osteolytic lesion is extremely rare. We describe an unusual case with an expansile lytic bone lesion at presentation in a case of acute lymphoblastic leukemia. PMID:27648170

  3. Cystic Disease of the Groin Presenting as Compression of a Femoral Vessel

    PubMed Central

    Kim, Hyung-Kee; Hwang, Deokbi; Park, Sujin; Jeong, Won-Ju; Seo, An Na; Huh, Seung

    2016-01-01

    In this study, we describe our diagnosis and treatment of two patients who presented with femoral vessel compression caused by a cystic lesion in the groin. One case was diagnosed as adventitial cystic disease (ACD) of the common femoral artery resulting in leg claudication and the other was diagnosed as a ganglion cyst (GC) causing femoral vein compression and unilateral leg swelling. The operative findings differed between these two cases with respect to the dissection of the cyst and femoral vessel, but the postoperative histological examination results were similar. The pathogenesis of ACD and GC is not fully understood, and further investigation is needed to delineate the exact pathology of these uncommon conditions.

  4. Sarcoid tenosynovitis, rare presentation of a common disease. Case report and literature review

    PubMed Central

    Al-Ani, Zeid; Oh, Teik Chooi; Macphie, Elizabeth; Woodruff, Michael J

    2015-01-01

    Sarcoidosis is an idiopathic inflammatory disorder characterized by the presence of non-caseating tissue granulomas most commonly affecting lungs, lymph nodes and skin. Sarcoid skeletal involvement is relatively uncommon and in particular tenosynovitis. We describe an unusual case of sarcoidosis presenting with granulomatous tenosynovitis as the only manifestation of the disease, illustrating the radiological findings on different modalities followed by a review of the literature. Radiologists and clinicians should be aware of tenosynovitis as a manifestation of sarcoidosis as early and therefore appropriate treatment significantly alters patient’s outcome and prognosis. PMID:26629300

  5. Sarcoid tenosynovitis, rare presentation of a common disease. Case report and literature review.

    PubMed

    Al-Ani, Zeid; Oh, Teik Chooi; Macphie, Elizabeth; Woodruff, Michael J

    2015-08-01

    Sarcoidosis is an idiopathic inflammatory disorder characterized by the presence of non-caseating tissue granulomas most commonly affecting lungs, lymph nodes and skin. Sarcoid skeletal involvement is relatively uncommon and in particular tenosynovitis. We describe an unusual case of sarcoidosis presenting with granulomatous tenosynovitis as the only manifestation of the disease, illustrating the radiological findings on different modalities followed by a review of the literature. Radiologists and clinicians should be aware of tenosynovitis as a manifestation of sarcoidosis as early and therefore appropriate treatment significantly alters patient's outcome and prognosis.

  6. Development of non-Hodgkin's lymphoma following therapy for Hodgkin's disease

    SciTech Connect

    Kim, H.D.; Bedetti, C.D.; Boggs, D.R.

    1980-12-15

    Three patients developed non-Hodgkin's lymphoma (NHL) 3 to 6 years after treatment for Hodgkin's disease (HD). In no instance was there evidence of recurrence of HD following the initial chemotherapy or radiotherapy. None of these patients had received both radiation therapy and chemotherapy. All patients responded well to conventional chemotherapy for NHL and are alive at 23 +, 37 +, and 65+ months after that secondary diagnosis. This report, when coupled with at least ten other such reported patients, suggests that NHL may be a relatively uncommon but significant complication of therapy for HD and must be distinguished for recurrence of HD.

  7. More Than Just the Heart: Transition and Psychosocial Issues in Adult Congenital Heart Disease.

    PubMed

    Kovacs, Adrienne H; Utens, Elisabeth M

    2015-11-01

    Most infants born with congenital heart disease (CHD) are now expected to reach adulthood. However, adults with CHD of moderate or great complexity remain at elevated risk of heart failure, arrhythmias, additional surgeries and interventional procedures, and premature mortality. This creates a need for lifelong specialized cardiac care and leads to 2 sets of potential challenges: (1) the transition from pediatric to adult care and (2) the psychosocial implications of coping with a chronic and often life-shortening medical condition. Many adolescents struggle with the transition to adult care, and mood and anxiety disorders are not uncommon in the adult setting.

  8. Rehabilitation of avulsion fracture of the tibial tuberosity following Osgood-Schlatter disease.

    PubMed

    Baltaci, G; Ozer, H; Tunay, V B

    2004-03-01

    A sixteen-year-old boy suffered from sharp pain in the knee during a jump while playing basketball. He had a positive history of Osgood Schlatter disease. Radiographic evaluation demonstrated an avulsion fracture of the tibial tuberosity Type III according to the classification of Watson-Jones. Rehabilitation after avulsion fracture of the tibial tuberosity is an important consideration for this relatively uncommon adolescent injury. In such avulsion fractures, landing on the ground with the knee fully extended after a jump is the most likely cause. This case report reviews the rehabilitation program, and selected functional outcome measures after rehabilitation are reported. The patient returned to sporting activity after 12 months.

  9. Lyme disease.

    PubMed

    Nat, Laura Bogdana; Simiti, Adriana Liana; Poanta, Laura Irina

    2014-01-01

    Lyme disease (Borreliosis), also called the "disease of 1000 faces", is produced by a bacterium called Borrelia burgdorferi, transmitted by the Ixodes tick. The clinical picture is non-specific and polymorph, with multisystemic involvement. Diagnosis is most often one of exclusion, and certain diagnosis is based on the presence of Borellia antibodies. The treatment is done differently depending on the stage of the disease and the severity of injuries, being used antibiotics like Doxycycline, Amoxicillin, Erythromycin or Penicillin. Under treatment the disease quickly heals without sequel, in the early stages, but advanced stages are usually resistant to treatment and chronic injuries can occur. Symptoms get worse without treatment and become chronic. We present the case of a woman of 66-year-old with a complex history of disease, which began one year prior to admission, through multiple and nonspecific symptoms; she presented herself in numerous medical services (gastroenterology, rheumatology--where an immunosuppressive treatment was initiated, hematology) without determining a final diagnosis. She was admitted in our service with altered general state and worsening symptoms, predominantly fever, muscle pain, joint pain, the patient being immobilized in bed. After multiple investigations and the problem of differential diagnosis with multiple pathologies, we finally established the diagnosis of Lyme disease. The peculiarities of the case are represented by the severity of the clinical manifestations and fulminant disease evolution under the unjustified administration of immunosuppressive treatment, and atypical joint involvement regarding localization and evolution that raised the issue of differential diagnosis with osteosarcoma or bone tuberculosis. PMID:25726630

  10. Parkinson's disease.

    PubMed

    Playfer, J R

    1997-05-01

    Parkinson's disease is a common disabling disease of old age. The diagnosis of idiopathic Parkinson's disease is based on clinical signs and has poor sensitivity, with about 25% of patients confidently diagnosed as having the disease actually having other conditions such as multi-system atrophy and other parkinsonism-plus syndromes. Benign essential tremor and arteriosclerotic pseudo-parkinsonism can easily be confused with Parkinson's disease. The cause of Parkinson's disease remains unknown. Speculative research highlights the role of oxidative stress and free radical mediated damage to dopaminergic cells. Parkinson's disease is the one neurodegenerative disorder in which drugs have been demonstrated to be of value. There is now a wide variety of drugs and formulations available, including anticholinergics, amantidine, L-dopa, dopamine agonists including apomorphine, selegiline and soon to be available catechol-O-methyltransferase inhibitors. Disabling side-effects of treatment, fluctuations, dyskinesias and psychiatric problems require strategic use of the drugs available. There is an increasing potential for neurosurgical intervention. PMID:9196696

  11. [Castleman disease].

    PubMed

    Sánchez de Toledo Sancho, J; Fàbrega Sabaté, J; Marhuenda Irastorza, C; Lucaya Layret, X; Torán Fuentes, N; Gros Subias, L; Sábado Alvarez, C

    2005-07-01

    Castleman disease or angiofollicular hyperplasia is a rare disorder included in the group of lymphoproliferative disorders. This entity was originally described by Castleman in 1956. The etiology remains unknown but it is postulated to be a reactive lymphoid hyperplasia due to chronic antigenic stimulation caused by a viral infection. The disease presents in young adults and is more frequent in women; it is exceptionally rare in the pediatric age group. It is classified into two clinical groups (localized disease and disseminated disease) and there are two histologic variants (hyaline-vascular and plasma cell Castleman disease). Localized disease is usually asymptomatic, has a good prognosis, and is the most common presentation in pediatric patients, usually corresponding to highly vascularized mediastinal masses. Resection of the mass, which is curative, is associated with a high risk of blood loss. Recently, preoperative arteriography with embolization has been used satisfactorily in the preoperative management of these tumors. We present a case of localized Castleman disease in a 12-year-old girl satisfactorily treated with embolization before curative resection.

  12. Adrenoleukodystrophy: new approaches to a neurodegenerative disease.

    PubMed

    Moser, Hugo W; Raymond, Gerald V; Dubey, Prachi

    2005-12-28

    X-linked adrenoleukodystrophy (X-ALD), which was first described in 1923, was viewed until 1976 as a rare and inexorably fatal neurodegenerative disorder that affected boys. The genetic defect and biochemical abnormalities have now been defined. Ongoing research has resulted in new findings: (1) there is a wide range of phenotypic expression. At least half of patients with X-ALD are adults with somewhat milder manifestations, and women who are carriers may become symptomatic. X-ALD is often misdiagnosed as attention-deficit/hyperactivity disorder in boys and as multiple sclerosis in men and women, and is not an uncommon cause of Addison disease; (2) the incidence of X-ALD, estimated to be 1:17,000 in all ethnic groups, approximates that of phenylketonuria; (3) noninvasive and presymptomatic diagnosis and prenatal diagnosis are available; family screening and genetic counseling are key to disease prevention; and (4) new therapies, applied early, show promise. Neonatal screening is likely to become available, and a wider awareness of X-ALD and its various modes of presentation permit new proactive approaches to this distressing disorder.

  13. Leptospirosis and Weil's disease in the UK.

    PubMed

    Forbes, A E; Zochowski, W J; Dubrey, S W; Sivaprakasam, V

    2012-12-01

    The recent high-profile death of a British Olympic rower from leptospirosis has raised awareness to this uncommon but potentially fatal disease. The re-emergence of the disease abroad is well documented in the literature, but less is known about cases in the UK. The increase in participation in water sports, foreign travel and often a combination of the two, has increased the exposure of tourists subsequently returning to the UK from areas of high prevalence. Leptospirosis is a zoonotic infection. The bacteria are shed in the urine of animals to the environment from where humans are infected by incidental hosts. There is a wide spectrum of severity of symptoms, from a self-limiting febrile illness to fatal pulmonary haemorrhage, renal or liver failure. It is thought that cases remain unrecognized every year in the UK, largely due to the mild nature of symptoms and the wide differential for febrile illness and partly due to lack of awareness among clinicians. This review examines the epidemiology of leptospirosis in the UK, over the period 2006-10, the clinical features, diagnostic techniques and treatment. PMID:22843698

  14. Cardiovascular lesions in collagen-vascular diseases.

    PubMed

    Ferrans, V J; Rodríguez, E R

    1985-01-01

    In this review, the cardiac lesions which develop in association with the various collagen-vascular diseases are described. In rheumatoid arthritis, the most frequent lesions are: fibrous obliterative pericarditis, with pericardial deposits of calcium, fibrin, cholesterol, and rheumatoid granulomas; granulomatous or nonspecific myocarditis; valvulitis, vasculitis, and amyloid deposits. In ankylosing spondylitis, the lesions involve mainly the valves (aortic and mitral valves) and the aorta. In systemic lupus erythematosus, the predominant cardiovascular lesions are: pericarditis, Libman-Sacks endocarditis, nonspecific myocarditis, vasculitis with fibrinoid necrosis, and acceleration of atherosclerosis. In scleroderma, the main cardiac lesion is fibrosis with only scanty inflammatory cells; pericarditis and nonbacterial thrombotic endocarditis also occur. In dermatomyositis/polymyositis, fibrous or fibrinous pericarditis can occur, as well as myocarditis with infiltrates of lymphocytes and plasma cells and with degeneration and necrosis of myocytes; valvulitis is uncommon except when the disease is related to mucinous adenocarcinoma. In polyarteritis nodosa, various stages of necrotizing vasculitis involve all layers of the arterial walls; foci of myocardial necrosis of various sizes can occur in association with these lesions; cardiac hypertrophy related to hypertension and pericarditis related to uremia, may also be found. In Wegener's granulomatosis, pericarditis, inflammatory infiltrates, necrotizing granulomas, and vasculitis have been observed in the heart.

  15. Kummell disease

    PubMed Central

    Schucany, William G.; Opatowsky, Michael J.

    2013-01-01

    Kummell disease, or avascular necrosis of a vertebral body, presents as vertebral osteonecrosis typically affecting a thoracic vertebra with compression deformity, intravertebral vacuum cleft, and exaggerated kyphosis weeks to months after a minor traumatic injury. This rare disease is increasing in prevalence secondary to an aging population and the associated rise in osteoporosis. Treatment with vertebroplasty or surgical decompression and fusion is often required. We present a classic case of Kummell disease to illustrate the salient features of the condition, with associated imaging findings on computed tomography and magnetic resonance imaging. PMID:23814399

  16. Kummell disease.

    PubMed

    Nickell, Larry T; Schucany, William G; Opatowsky, Michael J

    2013-07-01

    Kummell disease, or avascular necrosis of a vertebral body, presents as vertebral osteonecrosis typically affecting a thoracic vertebra with compression deformity, intravertebral vacuum cleft, and exaggerated kyphosis weeks to months after a minor traumatic injury. This rare disease is increasing in prevalence secondary to an aging population and the associated rise in osteoporosis. Treatment with vertebroplasty or surgical decompression and fusion is often required. We present a classic case of Kummell disease to illustrate the salient features of the condition, with associated imaging findings on computed tomography and magnetic resonance imaging.

  17. Gaucher's disease.

    PubMed

    Bohra, Vijay; Nair, Velu

    2011-07-01

    Gaucher's disease (GD) is the most common amongst the various disorders classified under the lysosomal storage disorders. GD is a model for applications of molecular medicine to clinical delineation, diagnosis, and treatment. The multiorgan and varied presentation of the disease makes it a challenge to diagnose GD early. The advent of enzyme replacement therapy in the early 1990s changed the management, and survival, of patients with GD. In addition to this, development of substrate reduction, pharmacological chaperone, and gene therapies has broadened the horizon for this rare disease. However, in resource-poor countries like ours, optimal management is still a distant dream. PMID:21897894

  18. Gaucher disease

    MedlinePlus

    ... harmful substances to build up in the liver, spleen, bones, and bone marrow. These substances prevent cells ... common. It involves bone disease, anemia, an enlarged spleen and low platelets (thrombocytopenia). Type I affects both ...

  19. Fabry Disease

    MedlinePlus

    ... kidneys may become progressively impaired, leading to renal failure. Other signs include decreased sweating, fever, and gastrointestinal ... of complications from strokes, heart disease, or kidney failure. What research is being done? The mission of ...

  20. Planning Diseases.

    ERIC Educational Resources Information Center

    Gabel, Medard

    1984-01-01

    To solve societal problems, both local and global, a global approach is needed. Serious diseases that are crippling present-day problem solving and planning are discussed, and the characteristics of a healthy, effective planning approach are described. (RM)

  1. Stargardt Disease

    MedlinePlus

    ... ways to prevent it. A decrease in color perception also occurs in Stargardt disease. This is because photoreceptor cells involved in color perception are concentrated in the macula. Back to top ...

  2. Legionnaire disease

    MedlinePlus

    Legionella pneumonia; Pontiac fever; Legionellosis ... Edelstein PH, Roy CR. Legionnaires' disease and Pontiac fever. In: Bennett JE, Dolin R, Blaser MJ, eds. Mandell, Douglas, and Bennett's Principles and Practice of Infectious ...

  3. Sever's Disease

    MedlinePlus

    ... Are Reading Upsetting News Reports? What to Say Vaccines: Which Ones & When? Smart School Lunches Emmy-Nominated Video "Cerebral Palsy: Shannon's Story" 5 Things to Know About Zika & Pregnancy Sever's Disease KidsHealth > ...

  4. Prion Diseases

    MedlinePlus

    ... and sometimes polymerize in neurodegenerative disorders. Credit: NIAID Biology & Genetics Scientists are examining how abnormal prion protein ... the abnormal form. Read more about prion diseases biology and genetics Therapeutic Approaches Although there are no ...

  5. Canavan disease

    MedlinePlus

    ... want to have children and have a family history of Canavan disease. Counseling should be considered if both parents are of Ashkenazi Jewish descent. For this group, DNA testing can almost always tell if the parents ...

  6. Lung Diseases

    MedlinePlus

    ... on Carcinogens: Captafol A Human Health Perspective on Climate Change (Full Report) (4MB) Certain Glass Wool Fibers (Inhalable) ( ... Environmental Public Health (PEPH) (1MB) Programs and Initiatives: Climate Change and Human Health Respiratory Disease and the Environment ( ...

  7. Lung disease

    MedlinePlus

    ... the lungs to take in oxygen and release carbon dioxide. People with this type of lung disorder often ... the lungs to take up oxygen and release carbon dioxide. These diseases may also affect heart function. An ...

  8. Meningococcal Disease

    MedlinePlus

    ... at increased risk of meningococcal disease. This includes college students, military personnel, international travelers to areas where meningococcal ... You May Also Like An 18-Year-Old College Student’s Battle with Meningitis Meningococcal Serogroup B Cases and ...

  9. Whipple's disease

    MedlinePlus

    ... fatal. Treatment relieves symptoms and can cure the disease. ... Brain damage Heart valve damage (from endocarditis ) Nutritional deficiencies Symptoms return (which may be because of drug resistance) Weight loss

  10. Alzheimer's Disease

    MedlinePlus

    ... risk of urinary tract and other serious infections. Malnutrition or dehydration: People who have Alzheimer’s disease may ... swallow. It’s important to watch for signs of malnutrition. If you think that a loved one might ...

  11. Zoonotic Diseases

    MedlinePlus

    ... gov . One Health About One Health Zoonotic Diseases History of One Health One Health in Action The Story of the Rift Valley Fever Virus Vaccine Lead Poisoning Investigation in Northern Nigeria Domestic One Health Activities "Friends" Magazine Global One ...

  12. Pilonidal Disease

    MedlinePlus

    Skip to main content ASCRS Patients Educational Resources Diseases and Conditions Patient Education Library Patient Success Stories Treatments and Screening Resources Find a Surgeon Hereditary Colorectal Cancer Registries Helpful Links Physicians ...

  13. Batten Disease

    MedlinePlus

    ... gene codes has not been identified. In addition, research scientists are working with NCL animal models to improve understanding and treatment of these disorders. One research team, for example, is ... for scientists to study the genetics of these diseases. NIH ...

  14. Vascular Diseases

    MedlinePlus

    ... heart and blood vessels, such as diabetes or high cholesterol Smoking Obesity Losing weight, eating healthy foods, being active and not smoking can help vascular disease. Other treatments include medicines and surgery.

  15. Heart Disease

    MedlinePlus

    ... with heart disease? What do my cholesterol and triglyceride numbers mean? How can I lower my cholesterol? ... weight Know your numbers (blood pressure, cholesterol, and triglycerides) You can reduce your chances of getting heart ...

  16. Wilson Disease

    MedlinePlus

    ... Wilson disease. Growing knowledge of the copper transporting gene ATP7B, which in its mutated form causes WD, should lead to the design of better therapies for this disorder. NIH Patient Recruitment for Wilson ...

  17. Crohn disease

    PubMed Central

    Stappenbeck, Thaddeus S.; Rioux, John D.; Mizoguchi, Atsushi; Saitoh, Tatsuya; Huett, Alan; Darfeuille-Michaud, Arlette; Wileman, Tom; Mizushima, Noboru; Carding, Simon; Akira, Shizuo; Parkes, Miles; Xavier, Ramnik J.

    2011-01-01

    Crohn disease (CD) is a chronic and debilitating inflammatory condition of the gastrointestinal tract.1 Prevalence in western populations is 100–150/100,000 and somewhat higher in Ashkenazi Jews. Peak incidence is in early adult life, although any age can be affected and a majority of affected individuals progress to relapsing and chronic disease. Medical treatments rely significantly on empirical corticosteroid therapy and immunosuppression, and intestinal resectional surgery is frequently required. Thus, 80% of patients with CD come to surgery for refractory disease or complications. It is hoped that an improved understanding of pathogenic mechanisms, for example by studying the genetic basis of CD and other forms of inflammatory bowel diseases (IBD), will lead to improved therapies and possibly preventative strategies in individuals identified as being at risk. PMID:20729636

  18. Behcet's Disease

    MedlinePlus

    ... Old Silk Route,” which spans the region from Japan and China in the Far East to the ... the disease’s epidemiology is not well understood. In Japan, Behcet’s disease ranks as a leading cause of ...

  19. Alzheimer disease

    MedlinePlus

    Senile dementia - Alzheimer type (SDAT); SDAT; Dementia - Alzheimer ... The exact cause of Alzheimer disease (AD) is not known. Research shows that certain changes in the brain lead to AD. You are more likely ...

  20. Chagas disease

    MedlinePlus

    ... will help control the spread of the disease. Blood banks in Central and South America screen donors for ... discarded if the donor has the parasite. Most blood banks in the United States began screening for Chagas ...

  1. Parkinson's Disease

    MedlinePlus

    ... cells make and use a brain chemical called dopamine (say: DOH-puh-meen) to send messages to ... coordinate body movements. When someone has Parkinson's disease, dopamine levels are low. So, the body doesn't ...

  2. [Kawasaki disease].

    PubMed

    Gliwińska, E

    1995-01-01

    Kawasaki disease (KD), first described in Japan in 1967 by Dr. Tomisaku Kawasaki, is an acute multi system vasculitis of infancy and early childhood characterised by high fever, rash, conjunctivitis, inflammation of the mucous membranes, erythematous induration of the hands and feet and cervical lymphadenopathy. Synonyms for Kawasaki disease include "Kawasaki syndrome" and "mucocutaneous lymph node syndrome" (MCLS, MLNS, MCLNS). Kawasaki disease was initially presumed to occur only in Japan; but now this disease is known in the whole world. The first cases in the United States were reported in Hawaii in 1976. In poland 5 cases were recognized, and first time described in 1981. The etiology of Kawasaki disease remains unknown. Toxic, allergic and immunologic causes have been suspected, but most investigators favor an infectious cause or an immune response to an infectious agent. Among classes of microorganism suspected of causing Kawasaki disease were bacteria, leptospires, fungi, rickettsiae and a number of viruses. Recently, there has been considerable interest in the possibility, that Kawasaki disease is caused by RETROVIRUSES. Although the disease is generally benign and self-limited, about 20% of children develop coronary artery aneurysms. In 5% of cases, giant aneurysm/more then 8 mm/develop, predisposing the patient to acute coronary artery thrombosis, myocardial infarction and sudden death. This is the most serious complication of KD. Other manifestations of hearth involvement, include pericarditis, myocarditis, myocardial failure and mitral regurgitation. Besides this many other clinical findings are commonly noted in KD; such as: pneumonia, diarrhea, arthritis, aseptic meningitis, otitis media, obstructive jaundice, hydrops of gallbladder and others.(ABSTRACT TRUNCATED AT 250 WORDS) PMID:7545822

  3. [Kawasaki's disease].

    PubMed

    Cortes, J; Martínez, B; Montini, C; Barraza, P; Reyes, A

    1989-08-01

    We described a case of Kawasaki's disease in a chilean girl, one year and 5 months old of age, who presented the oral characteristics, cutaneous and systemic manifestation of the condition, that is not very common for the dentist but that it is necessary to know due to the heart complications and the mortality associated with the disease, and it is necessary that the dentist recognize early this condition.

  4. [Devic disease].

    PubMed

    Papeix, Caroline

    2006-11-01

    Devic disease, also known as neuromyelitis optica, is a severe rare condition characterized clinically by one or more episodes of optical neuritis and myelitis. Pathologically, it is characterized by extensive demyelination associated with axon loss and deposits of complement and immunoglobulins (IgM) within the lesions. Specific antibodies for this disease (IgG NMO) were recently identified. Immunosuppressive treatment is currently the best option for preventing relapse. PMID:17086129

  5. Fabry disease.

    PubMed

    Schiffmann, Raphael

    2015-01-01

    Fabry disease, an X-linked disorder of glycosphingolipids that is caused by mutations of the GLA gene that codes for α-galactosidase A, leads to dysfunction of many cell types and includes a systemic vasculopathy. As a result, patients have a markedly increased risk of developing ischemic stroke, small-fiber peripheral neuropathy, cardiac dysfunction and chronic kidney disease. Virtually all complications of Fabry disease are non-specific in nature and clinically indistinguishable from similar abnormalities that occur in the context of more common disorders in the general population. Recent studies suggested a much higher incidence of mutations of the GLA gene, suggesting that this disorder is under-diagnosed. However, some of the gene variants may be benign. Although the etiology of Fabry disease has been known for many years, the mechanism by which the accumulating α-D-galactosyl moieties cause this multi organ disorder has only recently been studied and is yet to be completely elucidated. Specific therapy for Fabry disease has been developed in the last few years but its role in the management of the disorder is still being investigated. Fortunately, standard 'non-specific' medical and surgical therapy is effective in slowing deterioration or compensating for organ failure in patients with Fabry disease. PMID:26564084

  6. Bone disease in primary hypercalciuria

    PubMed Central

    Sella, Stefania; Cattelan, Catia; Realdi, Giuseppe; Giannini, Sandro

    2008-01-01

    Primary Hypercalciuria (PH) is very often accompanied with some degrees of bone demineralization. The most frequent clinical condition in which this association has been observed is calcium nephrolithiasis. In patients affected by this disorder bone density is very frequently low and increased susceptibility to fragility fractures is reported. The very poor definition of this bone disease from a histomorphometric point of view is a crucial aspect. At present, the most common finding seems to be a low bone turnover condition. Many factors are involved in the complex relationships between bone loss and PH. Since bone loss was mainly reported in patients with fasting hypercalciuria, a primary alteration in bone metabolism was proposed as a cause of both hypercalciuria and bone demineralization. This hypothesis was strengthened by the observation that some bone resorbing-cytokines, such as IL-1, IL-6, and TNF-α are high in hypercalciuric patients. The effect of an excessive response to the acid load induced by dietary protein intake seems an additional factor explaining a primitive alteration of bone. The intestine plays a major role in the clinical course of bone disease in PH. Patients with absorptive hypercalciuria less frequently show bone disease and a reduction in dietary calcium greatly increases the probability of bone loss in PH subjects. It has recently been reported that greater bone loss is associated with a larger increase in intestinal calcium absorption in PH patients. Considering the absence of PTH alterations, it was proposed that this is not a compensatory phenomenon, but probably the marker of disturbed cell calcium transport, involving both intestinal and bone tissues. While renal hypercalciuria is rather uncommon, the kidney still seems to play a role in the pathogenesis of bone loss of PH patients, possibly via the effect of mild to moderate urinary phosphate loss with secondary hypophosphatemia. In conclusion, bone loss is very common in PH

  7. Rare disease surveillance: An international perspective

    PubMed Central

    Elliott, Elizabeth J; Nicoll, Angus; Lynn, Richard; Marchessault, Victor; Hirasing, Remy; Ridley, Greta

    2001-01-01

    BACKGROUND: The International Network of Paediatric Surveillance Units (INoPSU) was established in 1998 and met formally for the first time in Ottawa, Ontario in June 2000. OBJECTIVES: To document the methodology and activities of existing national paediatric surveillance units; the formation of INoPSU; the diseases studied by INoPSU members; and the impact of such studies on education, public health and paediatric practice. METHODS: Directors of paediatric surveillance units in Australia, Britain, Canada, Germany, the Netherlands, Latvia, Malaysia, Papua New Guinea, New Zealand and Switzerland were asked to provide information on each unit’s affiliations, funding and staffing; the method of case ascertainment, the mailing list and response rates; and diseases studied. Original articles that reported data derived from units were identified by a search of an electronic database (MEDLINE), and additional information was obtained from units’ annual reports. RESULTS: Worldwide, 10 units (established from 1986 to 1997), use active national surveillance of more than 8500 clinicians each month to identify cases of rare or uncommon diseases in a childhood population (younger than 15 years of age) of over 47 million (monthly response rate 73% to 98%). By January 1999, units had initiated 147 studies on 103 different conditions, and 63 studies were completed. CONCLUSION: INoPSU enhances collaboration among units from four continents, providing a unique opportunity for simultaneous cross-sectional studies of rare diseases in populations with diverse geographical and ethnic characteristics. It facilitates the sharing of ideas regarding current methodology, ethics, the most appropriate means of evaluating units and their potential application. PMID:20084246

  8. Mutation analysis of 28 gaucher disease patients: The Australasian experience

    SciTech Connect

    Lewis, B.D.; Nelson, P.V.; Robertson, E.F.; Morris, C.P.

    1994-01-15

    Gaucher disease is the most common lysomal storage disease. It is an autosomal recessive disorder that results from a deficiency of {beta}-glucocerrebrosidase. Three clinical phenotypes have been described: non-neuronopathic, acute neuronopathic, and subacuteneuronopathic. Genomic DNA from 28 Australasian patients of diverse ethnic origin with Gaucher disease was screened for 3 common mutations (1226G, 1448C and 84GG) using the amplification refractory mutation system (ARMS), and one uncommon mutation (1504T) by restriction enzyme digestion. Thirty-eight of the 56 independent alleles in these patients were characterized, with 1448C present in 42% and 1226G in 28% of the alleles. The 1226G mutation was associated only with the nonneuronopathic phenotype and 7 of the 15 patients who carried the 1448C mutation developed neuronopathic disease. Three infants who died in the neonatal period following a rapidly progressive neurodegenerative course carried no identifiable mutations. The 84GG mutation was carried by 2 Jewish patients and 1504T was present in one patient. It is now possible to rapidly identify the common Gaucher mutations using ARMS and restriction enzyme digestion, and our findings confirm the heterogeneity of mutations in Gaucher disease. It is also possible to predict in part the phenotypic outcome when screening patients for these mutations. The authors consider mutation analysis to be of most use in prenatal diagnosis and for carrier detection within affected families. 27 refs., 2 figs., 2 tabs.

  9. Aortic Valve Disease

    MedlinePlus

    ... Disease Tricuspid Valve Disease Cardiac Rhythm Disturbances Thoracic Aortic Aneurysm Pediatric and Congenital Heart Disease Heart abnormalities that ... Disease Tricuspid Valve Disease Cardiac Rhythm Disturbances Thoracic Aortic Aneurysm Aortic Valve Disease Overview The human heart has ...

  10. Behcet's disease.

    PubMed

    Suzuki Kurokawa, M; Suzuki, N

    2004-09-01

    Behcet's disease (BD) is a systemic disorder of recurrent acute inflammation, characterized by major symptoms of oral aphthous ulcers, uveitis, skin lesions and genital ulcers. Involvement of intestines, vessels, and central nervous system (CNS) sometimes leads to a poor prognosis. Patients with BD are known to distribute along the ancient Silk Road. The incidence is relatively higher from eastern Asia to the Mediterranean area as roughly 1-10 patients in 10,000 people, whereas only 1-2 patients in 1,000,000 people in UK and North America. Although etiology of the disease is still unknown, high prevalence of HLA-B51, increased expression of heat shock protein 60 and Th1 dominant immune responses in the patients are considered important in its pathogenesis. Non-infectious neutrophil activation and infection with Streptococcus sanguis and herpes simplex virus would also be associated. Because BD lacks any pathognomonic symptoms and laboratory findings, the diagnosis relies largely upon the criteria proposed by the International Study Group for Behcet's disease in 1990. In Japan, the diagnosis was also made according to the Japanese criteria revised in 1987. Recently, the Behcet's Disease Research Committee of Japan again revised the Japanese criteria in 2003 to avoid overdiagnosis. The new Japanese criteria are introduced in this review. Differential diagnosis excluding Sweet's disease, pemphigus, erythema nodosum and Crohn's disease is important, and positive laboratory data for pathergy test, prick test for dead Streptococci and HLA-B51 are emphasized to make appropriate diagnosis in these criteria. Pathological findings of the disease-affected site such as erythematous nodosum is also stressed. Treatment for the disease has been chosen according to the clinical symptoms. Non-steroidal anti-inflammatory drugs, immunosuppressants, corticosteroids and colchicine are basically introduced. Recently, effects of interferon-alpha/beta, anti-tumor necrosis factor antibody

  11. Cerebrovascular disease.

    PubMed

    Portegies, M L P; Koudstaal, P J; Ikram, M A

    2016-01-01

    With 16.9 million people who suffered a first-ever stroke in 2010 worldwide, stroke is a very common vascular disease. Epidemiologic studies have played an essential role in assessing this burden and in detecting the risk factors for stroke. Primary prevention of these risk factors, primarily hypertension, smoking, diabetes, and atrial fibrillation, has reduced the incidence in high-income countries. However, stroke remains a major cause of death and disability, and therefore research should be continued. Subarachnoid hemorrhages are less prevalent than strokes but have an even higher risk of death. Similar to stroke, epidemiologic studies identified smoking and hypertension as its most important risk factors, together with excessive alcohol intake. Although rare, arterial dissections, CADASIL, arteriovenous malformations, venous sinus thrombosis, moyamoya disease, and vasculitis can lead to serious symptoms. The burden and risk factors of those rare diseases are more challenging to assess. Whenever possible, they should be recognized in a timely manner for their increased risk of stroke, but most often they are diagnosed only at the time of stroke. Some cerebrovascular abnormalities do not result in immediate symptoms. This subclinical cerebrovascular disease includes silent infarcts, white-matter lesions, and microbleeds, and is incidentally found by neuroimaging. These lesions are not innocent, as several epidemiologic studies have associated subclinical cerebrovascular disease with an increased risk of stroke, cognitive decline, dementia, and death. PMID:27637962

  12. [Eales' disease].

    PubMed

    Errera, M-H; Pratas, A; Goldschmidt, P; Sedira, N; Sahel, J-A; Benesty, J

    2016-05-01

    The syndrome of recurrent vitreous hemorrhages in young men was described for the first time by Henry Eales in 1880. The association with a clinical manifestation of ocular inflammation was reported 5years later. Eales disease affects young adults who present with ischemic retinal vasculitis, with the peripheral retina most commonly affected. Most cases have been reported in South Asia. Although the etiology of this abnormality is unknown, it may be related to an immune sensitivity to Mycobacterium tuberculosis antigens. Its pathogenesis is related to extensive ischemia that affects the retina, secondary to an obliterative retinal vasculopathy with release of angiogenic factors of the VEGF type. Involvement of the retina is the hallmark of the disease, which manifests as follows: periphlebitis, retinal capillary ischemia most often affecting the periphery with secondary proliferative retinopathy and retinal and/or papillary neovascularization, recurrent vitreous hemorrhages and tractional retinal detachment. These complications are potentially blinding. The natural history of Eales disease varies, with temporary or permanent remission in some cases and continuous progression in others. Progression is often bilateral, which necessitates regular follow-up. The treatment of Eales disease depends on the stage of the disease and is not well defined. Observation only, pars plana vitrectomy surgery and/or intravitreal injections of anti-VEGF are recommended in cases of vitreous hemorrhage, associated with corticosteroids when retinal vasculitis is present. Laser pan-retinal photocoagulation is necessary when neovascularization is present. PMID:27185661

  13. Infection and Cardiovascular Disease

    ClinicalTrials.gov

    2016-02-17

    Cardiovascular Diseases; Coronary Disease; Cerebrovascular Accident; Heart Diseases; Myocardial Infarction; Infection; Chlamydia Infections; Cytomegalovirus Infections; Helicobacter Infections; Atherosclerosis

  14. Role of sensitization to mammalian serum albumin in allergic disease.

    PubMed

    Liccardi, Gennaro; Asero, Riccardo; D'Amato, Maria; D'Amato, Gennaro

    2011-10-01

    Serum albumin (SA) constitutes an intriguing puzzle that is involved in allergic sensitizations from different sources and induces different clinical manifestations. In this article, we describe the role of sensitization to SAs in inducing allergic diseases and the complex interactions and cross-reactivity between SA resulting from its presence in various mammalian tissues and fluids. SAs alone are an uncommon cause of allergic sensitization in airways, but these allergenic proteins likely play a significant role as cross-reacting allergens in individuals sensitized to several types of animal dander. SAs are a minor allergen in milk but a major allergen in meats. Recently, bovine SA has been added to the culture medium of spermatozoids used for artificial insemination. As a consequence, some case reports have shown that bovine SA may be a causative agent in severe anaphylaxis after standard intrauterine insemination or in vitro fertilization. PMID:21809117

  15. Role of sensitization to mammalian serum albumin in allergic disease.

    PubMed

    Liccardi, Gennaro; Asero, Riccardo; D'Amato, Maria; D'Amato, Gennaro

    2011-10-01

    Serum albumin (SA) constitutes an intriguing puzzle that is involved in allergic sensitizations from different sources and induces different clinical manifestations. In this article, we describe the role of sensitization to SAs in inducing allergic diseases and the complex interactions and cross-reactivity between SA resulting from its presence in various mammalian tissues and fluids. SAs alone are an uncommon cause of allergic sensitization in airways, but these allergenic proteins likely play a significant role as cross-reacting allergens in individuals sensitized to several types of animal dander. SAs are a minor allergen in milk but a major allergen in meats. Recently, bovine SA has been added to the culture medium of spermatozoids used for artificial insemination. As a consequence, some case reports have shown that bovine SA may be a causative agent in severe anaphylaxis after standard intrauterine insemination or in vitro fertilization.

  16. Pheochromocytoma complicated by cyanotic congenital heart disease: a case report

    PubMed Central

    Yamamoto, Keiko; Namba, Noriyuki; Kubota, Takuo; Usui, Takeshi; Takahashi, Kunihiko; Kitaoka, Taichi; Fujiwara, Makoto; Hori, Yumiko; Kogaki, Shigetoyo; Oue, Takaharu; Morii, Eiichi; Ozono, Keiichi

    2016-01-01

    Abstract. Coincidental cyanotic congenital heart disease and pheochromocytoma is uncommon, although some cases have been reported. We describe a girl aged 15 yr and 11 mo with pheochromocytoma and tricuspid atresia treated by performing the Fontan surgery. The patient did not have any specific symptoms of syndrome related to pheochromoytoma or a family history of pheochromocytoma. During cardiac catheterization, her blood pressure increased markedly, and an α-blocker was administered. Catecholamine hypersecretion was observed in the blood and urine, and abdominal computed tomography revealed a tumor in the right adrenal gland. Scintigraphy showed marked accumulation of 123I-metaiodobenzylguanidine in the tumor, which led to a diagnosis of pheochromocytoma. We did not detect any germline mutations in the RET, VHL, SDHB, SDHD, TMEM127, or MAX genes. This patient had experienced mild systemic hypoxia since birth, which may have contributed to the development of pheochromocytoma. PMID:27212797

  17. Rosai-Dorfman Disease of the Central Nervous System

    PubMed Central

    Sandoval-Sus, Jose D.; Sandoval-Leon, Ana C.; Chapman, Jennifer R.; Velazquez-Vega, Jose; Borja, Maria J.; Rosenberg, Shai; Lossos, Alexander; Lossos, Izidore S.

    2014-01-01

    Abstract Rosai-Dorfman disease (RDD), also known as sinus histiocytosis with massive lymphadenopathy (SHML), is an uncommon benign idiopathic lymphoproliferative disorder. The histologic hallmark of RDD is the finding of emperipolesis displayed by lesional histiocytes. While RDD most commonly affects lymph nodes, extranodal involvement of multiple organs has been reported, including the central nervous system (CNS). However, CNS involvement in RDD is rare and is not well characterized. As a result, therapeutic approaches to CNS involvement in RDD are not well established. Herein we report 6 cases of RDD with isolated CNS involvement and review the literature on RDD with CNS involvement. One of the presented cases exhibited intramedullary involvement of the spinal cord—a very rare form of RDD with CNS involvement. PMID:24797172

  18. The epidemic of the 20(th) century: coronary heart disease.

    PubMed

    Dalen, James E; Alpert, Joseph S; Goldberg, Robert J; Weinstein, Ronald S

    2014-09-01

    Heart disease was an uncommon cause of death in the US at the beginning of the 20th century. By mid-century it had become the commonest cause. After peaking in the mid-1960s, the number of heart disease deaths began a marked decline that has persisted to the present. The increase in heart disease deaths from the early 20th century until the 1960s was due to an increase in the prevalence of coronary atherosclerosis with resultant coronary heart disease, as documented by autopsy studies. This increase was associated with an increase in smoking and dietary changes leading to an increase in serum cholesterol levels. In addition, the ability to diagnose acute myocardial infarction with the aid of the electrocardiogram increased the recognition of coronary heart disease before death. The substantial decrease in coronary heart disease deaths after the mid-1960s is best explained by the decreased incidence, and case fatality rate, of acute myocardial infarction and a decrease in out-of-hospital sudden coronary heart disease deaths. These decreases are very likely explained by a decrease in coronary atherosclerosis due to primary prevention, and a decrease in the progression of nonobstructive coronary atherosclerosis to obstructive coronary heart disease due to efforts of primary and secondary prevention. In addition, more effective treatment of patients hospitalized with acute myocardial infarction has led to a substantial decrease in deaths due to acute myocardial infarction. It is very likely that the 20th century was the only century in which heart disease was the most common cause of death in America.

  19. Kawasaki Disease.

    PubMed

    Newburger, Jane W; Takahashi, Masato; Burns, Jane C

    2016-04-12

    Kawasaki disease is an acute, self-limited vasculitis of unknown etiology that occurs predominantly in infants and children. If not treated early with high-dose intravenous immunoglobulin, 1 in 5 children develop coronary artery aneurysms; this risk is reduced 5-fold if intravenous immunoglobulin is administered within 10 days of fever onset. Coronary artery aneurysms evolve dynamically over time, usually reaching a peak dimension by 6 weeks after illness onset. Almost all the morbidity and mortality occur in patients with giant aneurysms. Risk of myocardial infarction from coronary artery thrombosis is greatest in the first 2 years after illness onset. However, stenosis and occlusion progress over years. Indeed, Kawasaki disease is no longer a rare cause of acute coronary syndrome presenting in young adults. Both coronary artery bypass surgery and percutaneous intervention have been used to treat Kawasaki disease patients who develop myocardial ischemia as a consequence of coronary artery aneurysms and stenosis. PMID:27056781

  20. [Refsum disease].

    PubMed

    Hochner, I; Blickle, J F; Brogard, J M

    1996-01-01

    Refsum's disease, firstly described almost 50 years ago by the Norvegian neurologist Sigvald Refsum, is an autosomic recessive disease affecting mostly the Scandinavians and the populations originating from Northern Europe. The disease results from a specific enzyme deficiency of the first step of phytanic acid catabolism pathway. This deficiency leads to an accumulation of this C20 fatty acid in the serum and the tissues with a preference for adipose tissue, liver and kidneys. The clinical picture includes retinitis pigmentosa, peripheral neuropathy, ataxia and elevated cerebrospinal fluid protein concentration. Other less frequent manifestations include cranial nerves deficiency, myocardiopathy, renal tubular dysfunction and ichtyosis. The diagnosis relies on serum phytanic acid measurement. The treatment consists of a phytanic-acid free diet sometimes associated with plasmapheresis. This treatment is generally effective on neuropathy but not on cranial nerves dysfunction and retinitis pigmentosa.