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  1. Whitmore's disease: an uncommon urological presentation

    PubMed Central

    Naganathan, Karthickeyan; Pillai, Sunil Bhaskara; Kumar, Praveen; Hegde, Padmaraj

    2014-01-01

    The incidence of prostatic abscesses has much decreased in the antibiotic era. We present an uncommon cause of prostatic abscess secondary to melioidosis, also known as Whitmore's disease or pseudoglanders. The disease is endemic in South East Asia and Australia. Although India is considered endemic for Burkholderia pseudomallei, the causative organism of melioidosis, not many cases have been reported. Most of the reported cases from India are from the South-West coastal regions of Kerala and Karnataka, Vellore, West Bengal and Bihar. Our index patient was successfully treated with parenteral antibiotics and endoscopic deroofing of the abscess. PMID:24518392

  2. Macroscopic Hydatiduria: An Uncommon Pathognomonic Presentation of Renal Hydatid Disease

    PubMed Central

    HAMIDI MADANI, Ali; ENSHAEI, Ahmad; POURREZA, Farshid; ESMAEILI, Samaneh; HAMIDI MADANI, Mohammad

    2015-01-01

    Isolated renal hydatid disease is a rare endemic infestation caused by larval form of Echinococcus granulosus. Hydatiduria is an uncommon presentation of renal hydatid disease. In 2012 a 34-year-old female referred to Razi Hospital, Rasht, Iran with complaints of right flank pain and grape-like material in urine. Diagnosis was made by ultrasonography and CT scan. The patient was treated surgically with nephrectomy in combination with perioperative chemotherapy with albendazol. PMID:26587504

  3. An Uncommon Feature of Chronic Granulomatous Disease in a Neonate

    PubMed Central

    2016-01-01

    Chronic Granulomatous Disease (CGD) represents recurrent life-threatening bacterial and fungal infections and granuloma formation with a high mortality rate. CGD's sign and symptoms usually appear in infancy and children before the age of five; therefore, its presentation in neonatal period with some uncommon features may be easily overlooked. Here we describe a case of CGD in a 24-day-old boy, presenting with a diffuse purulent vesiculopustular rash and multiple osteomyelitis. PMID:27872772

  4. 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

  5. Is adult celiac disease really uncommon in Chinese?

    PubMed Central

    Jiang, Ling-ling; Zhang, Bing-ling; Liu, You-shi

    2009-01-01

    Celiac disease (CD) is a type of intestinal malabsorption syndrome, in which the patients are intolerant to the gliadin in dietary gluten, resulting in chronic diarrhea and secondary malnutrition. The disease is common in Europe and the United States, but only sporadic reports are found in East Asia including China. Is CD really rare in China? We examined 62 patients by capsule endoscopy for chronic diarrhea from June 2003 to March 2008. Four patients with chronic diarrhea and weight loss were diagnosed to have CD. Under the capsule endoscopy, we observed that the villi of the proximal small bowel became short, and that the mucous membrane became atrophied in these four patients. Duodenal biopsies were performed during gastroscopy and the pathological changes of mucosa were confirmed to be Marsh 3 stage of CD. A gluten free diet significantly improved the conditions of the four patients. We suspect that in China, especially in the northern area where wheat is the main food, CD might not be uncommon, and its under-diagnosis could be caused by its clinical manifestations that could be easily covered by the symptoms from other clinical situations, particularly when it came to subclinical patients without obvious symptom or to patients with extraintestinal symptoms as the initial manifestations. PMID:19283870

  6. Association of Heart Block with Uncommon Disease States

    PubMed Central

    Yahalom, Malka; Roguin, Nathan; Antonelli, Dante; Suleiman, Khaled; Turgeman, Yoav

    2013-01-01

    A variety of diseases, other than the common Lev-Lenègre disease, are associated with cardiac conduction system abnormalities. These include acute processes, such as acute rheumatic fever, and other disorders, such as sarcoidosis, connective tissue disorders, neoplasms, and bacterial endocarditis with cardiac abscess formation. The purpose of the study is to raise awareness of these rare conditions. We present 10 adult patients (4 males and 6 females) with a mean age of 47 years (range: 19-69), with various rare diseases associated with heart block, who needed temporary or permanent pacemaker therapy in the past two decades. These conditions included acute rheumatic carditis, Wegener granulomatosis, cardiac involvement of metastatic breast cancer, bacterial endocarditis, sarcoidosis, S/P chest radiotherapy, and quadriplegia with syringomyelia postspinal cord injury, and adult congenital heart block. We conclude that patients with these disorders should be followed periodically, to allow for early detection and treatment of cardiac conduction disturbances, with pacemaker therapy. PMID:24436606

  7. [Histoplasmosis: the multiple sides of an uncommon disease].

    PubMed

    Amadori, Francesco; Doria, Roberta; Gemignani, Giulia; Flammini, Sarah; Leonildi, Alessandro; Ciancia, Eugenio Mario; Sanguinetti, Maurizio; Menichetti, Francesco

    2015-03-01

    Disseminated histoplasmosis is an invasive fungal infection documented in patients with impaired cellular immunity coming from endemic areas (America, Asia, Africa). We report two cases of disseminated histoplasmosis in AIDS patients paradigmatic of the multifaceted nature of the disease, which may be an expression either of an advanced state of immunosuppression or the immune reconstitution inflammatory syndrome (IRIS).

  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. Double-chambered right ventricle: an uncommon congenital heart disease. Case report and literature review.

    PubMed

    Animasahun, B A; Ekure, E N; Njokanma, O F

    2011-01-01

    A double-chambered right ventricle (DCRV) is a rare congenital heart disease and an uncommon cause of congestive cardiac failure. An anomalous muscle band divides the right ventricle into two cavities, causing variable degrees of obstruction. Echocardiography is considered a useful method for the diagnosis of this pathology, especially in children. An eight-year-old patient with a small ventricular septal defect (VSD) and double-chambered right ventricle presented with a history of palpitations, easy fatigability and recurrent fever. On presentation, she had features of congestive cardiac failure. A complete diagnosis was initially missed with transthoracic two-dimensional (2-D) echocardiography but later obtained based on transthoracic 2-D echocardiography with Doppler facility. This was confirmed with cardiac catheterisation. The patient was referred for surgical correction, which was successful. Due to the rarity of this condition and the consequences of missing the diagnosis, we present this case in order to highlight the rarity of this congenital heart disease in childhood.

  12. Bilateral painful parotid lumps and a lump in the groin: An uncommon presentation of common Kikuchi's disease

    PubMed Central

    Mirgh, Sumeet Prakash; Satiya, Jinendra; Sorabjee, Jehangir Soli

    2016-01-01

    Kikuchi-Fujimoto disease (KFD) is an under-recognized disease most commonly presenting with cervical lymphadenopathy, fever, and cytopenias in young females. Bilateral parotid enlargement is usually caused by infections (e.g., mumps) and autoimmune conditions (e.g., Sjogren syndrome). Parotid enlargement, inguinal lymphadenopathy, and pyrexia of unknown origin are uncommon presenting features of KFD and should be suspected in the appropriate setting. PMID:27843864

  13. 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

  14. Crohn’s disease and Takayasu’s arteritis: An uncommon association

    PubMed Central

    Taddio, Andrea; Maschio, Massimo; Martelossi, Stefano; Barbi, Egidio; Ventura, Alessandro

    2013-01-01

    Takayasu’s arteritis (TA) and Crohn’s disease (CD) are two rare autoimmune disorders; however some reports describe the presence of both diseases in the same patient. This finding has suggested the possibility that both diseases could share some common etiologic origin. We describe a case of a 13-year-old male affected by CD characterized by fever, diarrhea, weight loss, abdominal pain and elevation of inflammatory markers. Clinical and histological features from colonic specimens were consistent with CD. Treatment with steroids and azathioprine was started, however disease flared every time steroids were tapered. One year later, while still on treatment, he came back to our attention for dyspnea at rest and at night, tiredness and weakness. At physical examination a diastolic heart murmur was found as well as a left carotid artery bruit. A transthoracic echocardiography showed mild aortic valve insufficiency, left ventricular hypertrophy and a dilated ascending aorta with same findings at the aortic arch. A computed tomography scan showed abdominal aorta thickening, dilated thoracic aorta and the presence of a thoracic aortic aneurysm. TA associated with CD was diagnosed and medical treatment with cyclophosphamide, steroids and aminosalicylic acid was started, with good clinical response at 6 mo follow-up. We discuss the presence of possible common causes for the two diseases and the importance of differential diagnosis in those patients characterized for intractable disease. PMID:24124342

  15. 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.

  16. How did uncommon disorders become 'rare diseases'? History of a boundary object.

    PubMed

    Huyard, Caroline

    2009-05-01

    The category of 'rare diseases' has been in growing use in the fields of public health and patient advocacy for the past 15 years in Europe. In this socio-historical inquiry, I argue that this category, which appeared initially as a by-product of the orphan drug issue in the United States of America, is a boundary object. As such, it has different specific local uses: a meaningless category for physicians, it relates to the patients' experience of illness, whereas the pharmaceutical industry first considered it as being synonymous with small markets and then with innovation. Public bodies contributed to framing a common and blurred use, based on a statistical definition whose purpose was to foster co-operation between the four groups involved in the issue. In the definition process of the category of rare diseases, the key actors were the patients and public bodies, not medical professionals or the pharmaceutical industry.

  17. Metastatic Crohn's Disease: An Approach to an Uncommon but Important Cutaneous Disorder

    PubMed Central

    Aberumand, Babak; Howard, John

    2017-01-01

    Objective. To provide physicians with a clinical approach to metastatic Crohn's disease (MCD). Main Message. Metastatic Crohn's disease, defined as skin lesions present in areas noncontiguous with the gastrointestinal tract, is the rarest cutaneous manifestation of Crohn's disease. MCD lesions vary in morphology and can arise anywhere on the skin. MCD presents equally in both sexes and across age groups. Cutaneous findings may precede, develop concurrently with, or follow gastrointestinal involvement. A detailed history and thorough physical examination including a full-skin exam may help to exclude other dermatoses, as MCD can mimic other common disorders. A biopsy is required for a definitive diagnosis. Treatment options for MCD remain underwhelming due to the lack of randomized control studies and varying responses of reported therapeutic methods. Topical, intralesional, and systemic corticosteroids, antibiotics, traditional immunosuppressants, and surgery have shown mixed results. Recently, biologics have shown promise, even with refractory cases of MCD. Conclusion. MCD is an important cutaneous manifestation of this inflammatory disorder. Although a rare entity, early recognition can provide opportunity for successful therapeutic intervention. PMID:28127561

  18. 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.

  19. Mucinous adenocarcinoma of perianal region: an uncommon disease treated with neo-adjuvant chemo-radiation.

    PubMed

    Purkayastha, Abhishek; Sharma, Neelam; Dutta, Vibha; Bisht, Niharika; Pandya, Tejas

    2016-01-01

    Mucinous adenocarcinoma of the perianal region is an oncologic rarity posing a diagnostic and therapeutic dilemma for treating oncologists due to very few reported cases without definite therapeutic guidelines. It accounts for 2% to 3% of all gastrointestinal malignancies and are historically known to arise from chronic anal fistulas and ischiorectal or perianal abscesses. We hereby report a sporadic and interesting case of perianal mucinous adenocarcinoma in a 56-year-old male initially treated with alternative medicines and local surgery for recurrent fistula in ano of 2 years duration. He presented with complaints of discharging growth in perianal region, painful defecation associated with occasional blood mixed stools of 6 months duration. Incisional biopsy from the ulcer revealed mucinous adenocarcinoma. Contrast enhanced computed tomography (CT) scan and whole body positron emission tomography (PET) scan showed a localized perianal growth which was further confirmed with colonoscopy. With no pre-set treatment protocol for this rare entity, he was managed with neo-adjuvant concurrent chemo-radiation (CCRT) followed by abdominoperineal resection (APR) and adjuvant chemotherapy. Presently he is on 3 monthly follow-up since last 1 year post APR and adjuvant chemotherapy without any evidence of recurrence or distant metastasis. To the best of knowledge, our report may be one of the rarest cases of this disease entity where the duration of anal fistula was merely 2 years in contrast to the established criteria that the fistula precedes carcinoma by at least 10 years.

  20. Mucinous adenocarcinoma of perianal region: an uncommon disease treated with neo-adjuvant chemo-radiation

    PubMed Central

    Sharma, Neelam; Dutta, Vibha; Bisht, Niharika; Pandya, Tejas

    2016-01-01

    Mucinous adenocarcinoma of the perianal region is an oncologic rarity posing a diagnostic and therapeutic dilemma for treating oncologists due to very few reported cases without definite therapeutic guidelines. It accounts for 2% to 3% of all gastrointestinal malignancies and are historically known to arise from chronic anal fistulas and ischiorectal or perianal abscesses. We hereby report a sporadic and interesting case of perianal mucinous adenocarcinoma in a 56-year-old male initially treated with alternative medicines and local surgery for recurrent fistula in ano of 2 years duration. He presented with complaints of discharging growth in perianal region, painful defecation associated with occasional blood mixed stools of 6 months duration. Incisional biopsy from the ulcer revealed mucinous adenocarcinoma. Contrast enhanced computed tomography (CT) scan and whole body positron emission tomography (PET) scan showed a localized perianal growth which was further confirmed with colonoscopy. With no pre-set treatment protocol for this rare entity, he was managed with neo-adjuvant concurrent chemo-radiation (CCRT) followed by abdominoperineal resection (APR) and adjuvant chemotherapy. Presently he is on 3 monthly follow-up since last 1 year post APR and adjuvant chemotherapy without any evidence of recurrence or distant metastasis. To the best of knowledge, our report may be one of the rarest cases of this disease entity where the duration of anal fistula was merely 2 years in contrast to the established criteria that the fistula precedes carcinoma by at least 10 years. PMID:28138619

  1. When uncommon and common coalesce: adult onset Still's disease associated with breast augmentation as part of autoimmune syndrome induced by adjuvants (ASIA).

    PubMed

    Dagan, A; Kogan, M; Shoenfeld, Y; Segal, G

    2016-06-01

    Adult onset Still's disease (AOSD) is an uncommon, multisystemic, auto-inflammatory disorder, while breast augmentation is a very common cosmetic procedure. We describe a case in which these two coalesce, AOSD, manifested with pleuritis and pericarditis, developed after breast mammoplasty. The pathogenetic, missing link, behind the development of AOSD following mammoplasty, is thought to be the autoimmune (auto-inflammatory) syndrome induced by adjuvants (ASIA). We reviewed other cases of AOSD associated with breast mammoplasty published to date and the literature regarding AOSD and ASIA syndrome. The review is followed by a short debate of whether silicone implants should be explanted in similar, future cases.

  2. 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.

  3. A Novel Mutation in ABCA1 Gene Causing Tangier Disease in an Italian Family with Uncommon Neurological Presentation

    PubMed Central

    Ceccanti, Marco; Cambieri, Chiara; Frasca, Vittorio; Onesti, Emanuela; Biasiotta, Antonella; Giordano, Carla; Bruno, Sabina M.; Testino, Giancarlo; Lucarelli, Marco; Arca, Marcello; Inghilleri, Maurizio

    2016-01-01

    Tangier disease is an autosomal recessive disorder characterized by severe reduction in high-density lipoprotein cholesterol and peripheral lipid storage. We describe a family with c.5094C > A p.Tyr1698* mutation in the ABCA1 gene, clinically characterized by syringomyelic-like anesthesia, demyelinating multineuropathy, and reduction in intraepidermal small fibers innervation. In the proband patient, cardiac involvement determined a myocardial infarction; lipid storage was demonstrated in gut, cornea, and aortic wall. The reported ABCA1 mutation has never been described before in a Tangier family. PMID:27853448

  4. Diurnal and twenty-four hour patterning of human diseases: acute and chronic common and uncommon medical conditions.

    PubMed

    Smolensky, Michael H; Portaluppi, Francesco; Manfredini, Roberto; Hermida, Ramon C; Tiseo, Ruana; Sackett-Lundeen, Linda L; Haus, Erhard L

    2015-06-01

    The symptom intensity and mortality of human diseases, conditions, and syndromes exhibit diurnal or 24 h patterning, e.g., skin: atopic dermatitis, urticaria, psoriasis, and palmar hyperhidrosis; gastrointestinal: esophageal reflux, peptic ulcer (including perforation and hemorrhage), cyclic vomiting syndrome, biliary colic, hepatic variceal hemorrhage, and proctalgia fugax; infection: susceptibility, fever, and mortality; neural: frontal, parietal, temporal, and occipital lobe seizures, Parkinson's and Alzheimer's disease, hereditary progressive dystonia, and pain (cancer, post-surgical, diabetic neuropathic and foot ulcer, tooth caries, burning mouth and temporomandibular syndromes, fibromyalgia, sciatica, intervertebral vacuum phenomenon, multiple sclerosis muscle spasm, and migraine, tension, cluster, hypnic, and paroxysmal hemicranial headache); renal: colic and nocturnal enuresis and polyuria; ocular: bulbar conjunctival redness, keratoconjunctivitis sicca, intraocular pressure and anterior ischemic optic neuropathy, and recurrent corneal erosion syndrome; psychiatric/behavioral: major and seasonal affective depressive disorders, bipolar disorder, parasuicide and suicide, dementia-associated agitation, and addictive alcohol, tobacco, and heroin cravings and withdrawal phenomena; plus autoimmune and musculoskeletal: rheumatoid arthritis, osteoarthritis, axial spondylarthritis, gout, Sjögren's syndrome, and systemic lupus erythematosus. Knowledge of these and other 24 h patterns of human pathophysiology informs research of their underlying circadian and other endogenous mechanisms, external temporal triggers, and more effective patient care entailing clinical chronopreventive and chronotherapeutic strategies.

  5. Multilocus sequence typing of Bartonella henselae in the United Kingdom indicates that only a few, uncommon sequence types are associated with zoonotic disease.

    PubMed

    Chaloner, Gemma L; Harrison, Timothy G; Coyne, Karen P; Aanensen, David M; Birtles, Richard J

    2011-06-01

    Bartonella henselae is one of the most common zoonotic agents acquired from companion animals (cats) in industrialized countries. Nonetheless, although the prevalence of infections in cats is high, the number of human cases reported is relatively low. One hypothesis for this discrepancy is that B. henselae strains vary in their zoonotic potential. To test this hypothesis, we employed structured sampling to explore the population structure of B. henselae in the United Kingdom and to determine the distribution of strains associated with zoonotic disease within this structure. A total of 118 B. henselae strains were delineated into 12 sequence types (STs) using multilocus sequence typing. We observed that most (85%) of the zoonosis-associated strains belonged to only three genotypes, i.e., ST2, ST5, and ST8. Conversely, most (74%) of the feline isolates belonged to ST4, ST6, and ST7. The difference in host association of ST2, ST5, and ST8 (zoonosis associated) and ST6 (feline) was statistically significant (P < 0.05), indicating that a few, uncommon STs were responsible for the majority of symptomatic human infections.

  6. Uncommon liver tumors

    PubMed Central

    Wu, Chia-Hung; Chiu, Nai-Chi; Yeh, Yi-Chen; Kuo, Yu; Yu, Sz-Shian; Weng, Ching-Yao; Liu, Chien-An; Chou, Yi-Hong; Chiou, Yi-You

    2016-01-01

    Abstract Background: Beside hepatocellular carcinoma, metastasis, and cholangiocarcinoma, the imaging findings of other relatively uncommon hepatic lesions are less discussed in the literature. Imaging diagnosis of these lesions is a daily challenge. In this article, we review the imaging characteristics of these neoplasms. Methods: From January 2003 to December 2014, 4746 patients underwent liver biopsy or hepatic surgical resection in our hospital. We reviewed the pathological database retrospectively. Imaging of these lesions was reviewed. Results: Imaging findings of uncommon hepatic lesions vary. We discuss the typical imaging characteristics with literature review. Clinical and pathological correlations are also described. Primary hepatic lymphoma consists only of 1% of the extranodal non-Hodgkin lymphoma, and is defined as the one involving only the liver and perihepatic lymph nodes within 6 months after diagnosis. Combined hepatocellular and cholangiocarcinoma (cHCC-CC) shares some overlapping imaging characteristics with both HCC and cholangiocarcinoma because of being an admixture of them. Angiosarcoma is the most common hepatic mesenchymal tumor and is hypervascular in nature. Inflammatory pseudotumor is often heterogeneous on ultrasonography and with enhanced septations and rims in the portovenous phase after contrast medium. Angiomyolipoma (AML) typically presents with macroscopic fat components with low signal on fat-saturated magnetic resonance imaging (MRI) and presence of drainage vessels. Intraductal papillary neoplasm of the bile duct (IPNB) is thought of as a counterpart to the pancreatic intraductal papillary mucinous neoplasm. Most of the IPNBs secrete mucin and cause disproportional dilatation of the bile ducts. Mucinous cystic neoplasm (MCN) contains proteinaceous and colloidal components without ductal communication and characterizes with hyperintensity on T1-weighted imaging. Other extremely rare lesions, including epithelioid

  7. 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

  8. Adaptive Radiotherapy for an Uncommon Chloroma

    PubMed Central

    Majdoul, Soufya; Colson-Durand, Laurianne; To, Nu Hanh; Belkacemi, Yazid

    2016-01-01

    Granulocytic sarcomas, also referred to as chloromas or myeloid sarcomas, are extramedullary neoplasms that are composed of immature myeloid cells. This uncommon disease is known to be radiosensitive. However, the total dose and dose per fraction are not standardized. In addition, during the course of radiation therapy, significant reduction of the tumor is usually obtained. Thus, target volume reduction may require an intermediate radiotherapy plan evaluation for an adaptive treatment. A second plan at mid-dose is highly recommended. PMID:27920690

  9. [An Uncommon Diagnosis].

    PubMed

    Leonhard, Nicole; Aeberhard, Carla; Birrenbach, Tanja; Stanga, Zeno

    2015-10-14

    We report on a 61-year-old patient who suffered from severe protein-energy malnutrition due to an inadequately treated exocrine pancreatic insufficiency. In this context, a thiamine deficiency was not recognized and there were clinical manifestations of beriberi disease with decompensated biventricular heart failure. In the course of time, a manifest niacin deficiency (pellagra) with dermatitis, diarrhea and persistent delirium occurred, which was recognized and could be treated. We highlight differential diagnostic considerations about the consequences and the treatment of malnutrition, with special focus on the classical deficiency diseases beriberi and pellagra.

  10. Bednar Tumor: An Uncommon Entity.

    PubMed

    Amonkar, Gayathri P; Rupani, Asha; Shah, Ajay; Deshpande, Ramesh

    2016-01-01

    Bednar tumor is an uncommon variant of dermatofibrosarcoma protuberans. Also known as pigmented dermatofibrosarcoma protuberans, this tumor is of intermediate grade. It is seen in adults and has a predisposition to affect the shoulder region. We report a rare case of Bednar tumor in a 40-year-old female patient. The diagnosis of Bednar tumor must be considered while reporting pigmented subcutaneous spindle cell lesions.

  11. [Uncommon clinical manifestations of cutaneous leishmaniasis].

    PubMed

    Hayani, K; Dandashli, A; Weisshaar, E

    2014-10-01

    Cutaneous leishmaniasis is one of the most common dermatoses of the tropics. A major focus of this disease is the Syrian city of Aleppo, after which it was named in many textbooks ("Aleppo boil"). The first cases of cutaneous leishmaniasis were reported from Aleppo particularly more than 100 years ago. Syria is one of the most affected countries worldwide. This disease used to be well documented until the onset of the war in Syria in 2012, which is also supported by the numbers of the World Health Organisation (WHO), and Aleppo used to be the most affected Syrian city. Since 2012, the documentation of cutaneous leishmaniasis in Syria is no longer possible. An outbreak of cutaneous leishmaniasis has been detected especially in the besieged regions due to missing prevention measures against the sandflies and a lack of medical care. A short summary of the epidemiologic situation in Syria as well as outstanding and uncommon clinical manifestations of cutaneous leishmaniasis in Aleppo are presented.

  12. Uncommon surgical emergencies in neonatology.

    PubMed

    Angotti, R; Bulotta, A L; Ferrara, F; Molinaro, F; Cerchia, E; Meucci, D; Messina, M

    2014-12-30

    Objective. Over the past decade, multiple factors have changed the pattern of neonatal surgical emergencies. An increase in prenatal screenings and the development of neonatal tertiary care centres have changed the clinical approach to these kids. Materials and methods. Between 1995 to 2011 were retrospectively reviewed 34 patients with diagnosis of uncommon rare neonatal surgical emergencies at our institute. We analyzed: sex, gestational age, weight at birth, primary pathology, prenatal diagnosis, associated anomalies, age and weight at surgery, clinical presentation, start of oral feeding and hospitalization. The follow-up was performed at 6,12, 24 and 36 months. Results. There were 21 male and 13 female. The gestational age ranged between 28 and 36 weeks. The weight at birth ranged between 700 and 1400 grams. Oral feeding was started between 4th and 10th postoperative day. The average hospitalization was about 70.47 days. To date, all patients have finished the followup. They are healthy. Conclusion. The outcome of the patients with uncommon surgical emergencies is different based on the etiology. Overall survival is generally good but is influenced by the associated anomalies.

  13. 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 low-income…

  14. Uncommon neurodegenerative causes of dementia.

    PubMed

    Kurz, Alexander F

    2005-01-01

    A group of neurodegenerative diseases is outlined that affect cortical and subcortical areas of the brain. These diseases give rise to atypical forms of dementia and, unlike Alzheimer's disease (AD), are often associated with neurological symptoms. Clinical symptoms reflect the localization of the degenerative process rather than the nature of the underlying histopathology. Degeneration of the frontal and anterior temporal lobe presents initially with behavioral alterations, but later in the course, impairment of cognition and activities of daily living develops. Posterior cortical atrophy affects the parietal and occipital association cortices and causes complex visual disturbances. In corticobasal degeneration (CBD) the focus of pathology includes the frontoparietal cortex and several subcortical nuclei, causing symmetrical rigidity, bradykinesia, myoclonus and dystonia. Progressive supranuclear palsy (PSP) involves the frontal, temporal and parietal cortex as well as parts of the brain stem. Clinical features include a hypokinetic rigid syndrome with nuchal dystonia and vertical gaze palsy. Huntington's disease is a prototypical autosomal dominant disorder that affects the extrapyramidal system and causes choreatic movements in combination with personality changes and cognitive deterioration. Amyotrophic lateral sclerosis (ALS) with dementia is a neurodegeneration of the frontotemporal cortex and of the anterior horn of the spinal cord. Behavioral change similar to frontotemporal dementia (FTD) is paralleled or followed by the classic features of motor neuron disease.

  15. [Kluver Bucy syndrome and central diabetes insipidus: two uncommon complications of herpes simplex encephalitis].

    PubMed

    Locatelli, C; Vergine, G; Ciambra, R; Leone, V; Facchini, S; Suprani, T; Casadei, G; Pocecco, M

    2003-01-01

    Herpes Simplex Encephalitis (HSE) is an uncommon but severe disease with high mortality and morbidity. The major clinical manifestations are deteriorating consciousness with confusion, drowsiness or coma, altered behaviour, convulsions and a variety of neurological signs (hemiplegia, aphasia, ataxia, etc.). An uncommon complication of HSE is Kluver Bucy syndrome (KBS), characterized by hyperorality, bulimia and changes in emotional behaviour. Neuroimaging studies frequently show an involvement of the temporal lobes and limbic areas. Another uncommon complication of HSE is central diabetes insipidus as a result of herpes simplex infection of the hypothalamus. We report two pediatric cases of HSE complicated with Kluver Bucy syndrome and central diabetes insipidus.

  16. 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

  17. Uncommon hepatic tumors: iconographic essay - Part 1.

    PubMed

    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.

  18. 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.

  19. 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…

  20. Uncommon renal tumors in children: A single center experience

    PubMed Central

    Mandal, Kartik Chandra; Mukhopadhyay, Madhumita; Barman, Shibsankar; Halder, Pankaj; Mukhopadhyay, Biswanath; Kumar, Rajarshi

    2016-01-01

    Aims: Scrutiny over the clinical behaviors, management, and the final outcome of some rare renal neoplasm in order to find out some hidden facts about these tumors which are playing an important role in the disease course and its management. Materials and Methods: Retrospective evaluation of uncommon (non-Wilms’) renal neoplasm in the pediatric population in a tertiary care center. Fifteen cases of uncommon renal tumors were treated in our institution over the last 5 years (January 2008 to December 2012). The cases were tabulated in the form of age, sex, mode of presentation, preoperative investigations, intraoperative grading, pathological type, postoperative management and the final outcome. The patients were followed up for 2 years (clinically every 3 months and ultrasonography abdomen in every 6 months for first 2 years) in order to see any evidence of recurrence and complications related to postoperative chemotherapy. Results: Out of 15 cases, four cases were clear cell sarcoma (CCS) (26.6%), three cases were rhabdoid tumor (20%), three cases were congenital mesoblastic nephroma (20%), two cases were multilocular cystic nephroma (13.3%), two cases were renal teratoma (13.3%), and one case of teratoid Wilms’ tumor (6.6%). There were two deaths (one CCS and one rhabdoid tumor) due to chemotherapy-related toxicity but no recurrence. Three patients were lost during postoperative follow-up; ten patients are doing well and getting a regular visit in the follow-up clinic. Conclusion: The clinical presentations of these uncommon renal tumors are similar to that of Wilms’ tumor. Thus, preoperative diagnosis is difficult even with modern imaging techniques. Some of these tumors (CCS, rhabdoid tumor) are rapidly progressing and have a poor outcome. Hence, early intervention in the form of complete surgical resection of the tumor (whenever possible) and postoperative chemo/radiotherapy are imperative for fruitful outcome. PMID:27046976

  1. Uncommon hepatic tumors: iconographic essay - Part 2.

    PubMed

    Pedrassa, Bruno Cheregati; da Rocha, Eduardo Lima; Kierzenbaum, Marcelo Longo; Bormann, Renata Lilian; Francisc, Viviane Vieira; D'Ippolito, Giuseppe

    2014-01-01

    In cases where typical aspects are shown, the diagnosis of most frequent hepatic lesions can be made with some safety by means of several imaging methods; on the other hand, uncommon lesions generally represent a diagnostic challenge for the radiologist. In the present second part of the study, the authors describe four rare hepatic lesions, as follows: primary hepatic lymphoma, myofibroblastic tumor, primary hepatic neuroendocrine tumor and desmoplastic small round cell tumor, approaching their main characteristics and imaging findings with emphasis on computed tomography and magnetic resonance imaging.

  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. Uncommon localizations of hydatid cyst. Review of the literature

    PubMed Central

    SALAMONE, G.; LICARI, L.; RANDISI, B.; FALCO, N.; TUTINO, R.; VAGLICA, A.; GULLO, R.; PORRELLO, C.; COCORULLO, G.; GULOTTA, G.

    2016-01-01

    Introduction Hydatid disease is an endemic anthropozoonosis with usual localization in liver and lungs. Rarely it localizes in uncommon sites as spleen, skeleton, kidney, brain, cardiac muscle, peritoneum, sub cutis. Complications of uncommon localizations are the same that for usual ones. Material and methods Review of the literature on rare and atypical localization of hydatid cysts in soft tissues. Key-words used on Pub-Med [(echinococ OR hydatid) AND (soft tissue OR subcutaneous OR cutaneous)] without time limit. There were found 282 articles; 242 were excluded because of muscular or bone localizations. 40 were coherent. Results Different variables are taken into account: age, sex, geographic area, anatomic localization of the cyst, dimension, symptoms, signs, mobility, blood exams and specific serological tests, imaging techniques for diagnosis, existing of septa in the structure, treatment, anaesthesia, spillage, neo-adjuvant and adjuvant treatment, follow-up period, recurrent lesions. Conclusion It would be useful create an homogeneous and standardized collection of data of these rare and potentially life-threatening conditions in order to create guide-line of diagnostic and therapeutic process and create (or adopt) unique classification of the lesions. PMID:27938537

  4. Renal failure occurs in chronic lithium treatment but is uncommon.

    PubMed

    Bendz, Hans; Schön, Staffan; Attman, Per-Ola; Aurell, Mattias

    2010-02-01

    We sought to establish the prevalence of lithium-induced end-stage renal disease in two regions of Sweden with 2.7 million inhabitants corresponding to about 30% of the Swedish population. Eighteen patients with lithium-induced end-stage renal disease were identified among the 3369 patients in the general lithium-treated population, representing a sixfold increase in prevalence compared with the general population for renal replacement therapy. All lithium-treated patients were older than 46 years at end-stage renal disease with a mean lithium treatment time of 23 years with ten patients having discontinued lithium treatment an average of 10 years before the start of renal replacement therapy. The prevalence of chronic kidney disease (defined as plasma creatinine over 150 micromol/l) in the general lithium-treated population was about 1.2% (excluding patients on renal replacement therapy). Compared with lithium-treated patients without renal failure, those with chronic kidney disease were older and most were men but, as groups, their mean serum lithium levels and psychiatric diagnoses did not differ. We found that end-stage renal disease is an uncommon but not rare consequence of long-term lithium treatment and is more prevalent than previously thought. Time on lithium was the only identified risk factor in this study, suggesting that regular monitoring of renal function in these patients is mandatory.

  5. An uncommon presentation of an uncommon disease: leprosy in a heart transplant recipient.

    PubMed

    Gasink, Leanne B; Seymour, Christopher; Blumberg, Emily A; Goldberg, Lee R; Fishman, Neil O

    2006-07-01

    The effect of solid-organ transplantation on the acquisition, presentation and course of leprosy is unknown. We present a case of leprosy in a heart transplant recipient with multiple unique features possibly attributed to altered immune function.

  6. 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

  7. 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

  8. 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

  9. Interstitial lung disease and profound hypoxaemia in a severely-malnourished child with very severe pneumonia and potential lymph-node tuberculosis: an uncommon but serious co-morbidity.

    PubMed

    Chisti, Mohammod J; Parvin, Irin; Ashraf, Hasan; Saha, Haimanti; Matin, Fariha B; Pietroni, Mark A C

    2013-03-01

    A nine-month old boy was initially admitted at the Acute Respiratory Infection Unit of Dhaka Hospital of icddr,b and soon after transferred to the Intensive Care Unit of the same hospital. The boy had problems of very severe pneumonia (confirmed by radiology), severe hypoxaemia, severe malnutrition, and Down's syndrome. The patient was treated according to the hospital protocol for the management of pneumonia and malnutrition. During the hospital stay, hypoxaemia was persistent with very little improvement of pneumonia; a number of differentials, such as pneumocystis jirovecii pneumonia, lymph-node tuberculosis, were added to the problems. Subsequently, the patient's hypoxaemia improved with the empirical use of antitubercular drugs. However, the patient again developed persistent hypoxaemia and, after unsuccessful treatment for a hospital-acquired pneumonia, the problems further expanded to include interstitial lung disease (ILD). This was confirmed by high-resolution computed tomography, and the patient was treated with prednisolone for 6 months, along with antitubercular drugs. He fully recovered from ILD, hypoxaemia, and pneumonia both clinically and radiologically. Therefore, severely-malnourished children having wet cough and pneumonia with persistent hypoxaemia should be assessed for the possible existence of interstitial lung disease. This may help provide a prompt and appropriate management to reduce morbidity and deaths in such patients.

  10. [Historical evolution and development countermeasures of uncommon-territorial herbs].

    PubMed

    Peng, Hua-sheng; Wang, De-qun; Hao, Jin-da; Xie, Jin; Liu, He-ling; Peng, Dai-yin; Huang, Lu-qi

    2015-05-01

    As an important part of Chinese medicinal materials, uncommon-territorial herbs are also the most complex parts in the herbal medicine markets. Through years of investigation on the key markets of Chinese herbal medicine, the meaning of uncommon-territorial herbs, their historical evolution, origin and characteristics were clarified in this paper, and some countermeasures were put forward for its development.

  11. 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.

  12. Ependymoma in adults: Local experience with an uncommon tumour.

    PubMed

    Asaid, Mina; Preece, Patrick D; Rosenthal, Mark A; Drummond, Katharine J

    2015-09-01

    This study reviews our tertiary hospital experience in an adult population of ependymoma patients. Ependymomas are uncommon tumours of the central nervous system (CNS) and the literature provides little information to guide management and predict prognosis. The prospectively maintained Australian Comprehensive Cancer Outcomes and Research Database of CNS tumours was searched for patients diagnosed with ependymomas at the Royal Melbourne Hospital between January 2008 and December 2013. A total of 39 adult patients with ependymoma were identified, including 13 with spinal myxopapillary ependymoma. The mean age at diagnosis was 44 years. All patients underwent surgical resection, 67% of whom had a gross macroscopic resection. Postoperative adjuvant radiotherapy was administered to 11 patients (30%), two (5%) died from progressive disease and seven (18%) developed recurrent disease. Our findings are consistent with the existing literature for patient demographics and the approach to treatment, whilst our clinical outcomes appear more favourable. This study provides the basis for further and necessary research, including determination of the molecular characterisation of these tumours and the identification of prognostic and predictive biomarkers and treatment targets.

  13. 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

  14. 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

  15. Rickettsial diseases in Haryana: not an uncommon entity.

    PubMed

    Chaudhry, D; Garg, A; Singh, I; Tandon, C; Saini, R

    2009-04-01

    Rickettsioses have not been reported from the plains of North India and Haryana in particular. Here we are reporting three cases of scrub typhus and one cases of Indian tick typhus in the state of Haryana, all of which presented with fever and multi organ dysfunction, rash and without eschar. All were successfully treated with doxycycline.

  16. Erythema nodosum - a review of an uncommon panniculitis.

    PubMed

    Blake, Tristan; Manahan, Melissa; Rodins, Karl

    2014-04-16

    Panniculitis, inflammation of the subcutaneous fat, is a relatively uncommon condition that usually presents with inflammatory nodules or plaques. Erythema nodosum (EN) is clinically the most frequent form of panniculitis and is considered a reactive process that may be triggered by a wide variety of stimuli. Whilst up to 55% of EN is considered idiopathic, the most common causes include infections, drugs, systemic illnesses such as sarcoidosis and inflammatory bowel disease, pregnancy, and malignancy. EN typically presents in the teens and 20s, and is seen more commonly in females. It is often preceded by a non-specific prodrome of one to three weeks, which may include fever, malaise, and symptoms of an upper respiratory tract infection. Cutaneous lesions then follow, typically localized on the extensor aspect of the limbs. The lesions are painful rounded or oval, slightly raised, non-ulcerative red nodules. The exact pathogenesis of EN is not understood, although is thought to result from deposition of immune complexes in the venules of the septae in subcutaneous fat, causing a neutrophilic panniculitis. The classical histopathological picture is of a septal panniculitis without vasculitis. However, the pathological features vary with the chronology of the lesions. Even without specific therapy for a causative condition, EN typically resolves without treatment. Therefore, symptomatic support is adequate for the majority of patients.

  17. 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

  18. 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.

  19. Solitary Angiokeratoma: Report of Two Uncommon Cases

    PubMed Central

    Chowdappa, Vijaya; Narasimha, Aparna; Masamatti, Smitha S.

    2015-01-01

    Angiokeratomas are rare benign vascular skin lesions arising in isolation or in groups of multiple lesions, as solitary cutaneous forms or generalized systemic forms. They are ectasias of dermal capillaries with an acanthotic and hyperkeratotic epidermis. They can occur in both healthy individuals and in those with underlying systemic disease due to inherited enzyme deficiency or other acquired predisposing factors. The identification and reporting of these lesions is important as patients with these lesions should be evaluated to rule out underlying pathogenic conditions. We report two rare cases of isolated solitary cutaneous angiokeratoma occurring in two patients. PMID:26155544

  20. [Newborn with lung mass of uncommon etiology].

    PubMed

    Pellegrino Cid, Christian; Maglio, Silvana; Gentile, Luis Fernando

    2012-01-01

    Thoracic masses in neonates usually respond to congenital anomalies of the respiratory system. They comprise a large number of diseases that can compromise the development of larynx, trachea, bronchi, pulmonary parenchyma and diaphragm or chest wall. Diagnosis is carried out during prenatal period by ultrasound in most cases. In others, respiratory distress is diagnosed during post-birth examination or later as a radiological finding. We present the case of a full term newborn with prenatal diagnosis of cystic "lung mass". Physical examination was unremarkable except for decreased breath sounds on the right lung. Different image studies were carried out to characterize the lesion. The patient underwent surgery and chemotherapy at fifth month of life. Pleuropulmonary blastoma diagnosis was confirmed by pathological study of the surgical specimen. This is a rare intrathoracic malignant tumor, appearing almost exclusively in children less than 7-years-old.

  1. Paraneoplastic hypertrichosis lanuginosa acquisita: uncommon or overlooked?

    PubMed

    Slee, P H T J; van der Waal, R I F; Schagen van Leeuwen, J H; Tupker, R A; Timmer, R; Seldenrijk, C A; van Steensel, M A M

    2007-12-01

    Acquired hypertrichosis lanugo-type or hypertrichosis lanuginosa acquisita (HLA) is often associated with metabolic and endocrine disorders and use of certain drugs. The occurrence of HLA with malignancy was first noted in 1865, and it has since been described in 56 patients as a paraneoplastic syndrome both in women and in men. Sometimes HLA occurs concurrent with acanthosis nigricans, papillary hypertrophy of the tongue, and glossitis. The predominance of female cases is striking. Malignancy-associated HLA seems to occur especially in the age group 40-70 years. In women with HLA the most frequent malignancy is colorectal cancer, followed in order by lung cancer and breast cancer; in men lung cancer is the malignancy most frequently associated with HLA, followed by colorectal cancer. In 3 years we saw 10 patients with HLA, in whom the malignancy was usually metastasized. Only one patient had local disease; after removal of the primary tumour it took 2 years before the lanugo hair recurred. The aetiology of the syndrome is not clear: no specific hormonal or biochemical abnormalities have been identified as yet. The difference between hirsutism and lanugo-type hypertrichosis is discussed. It is stressed that the appearance of lanugo-type hypertrichosis in body areas previously perceived by patients as 'hairless' is highly indicative of internal malignancy.

  2. Status assessment of New Zealand's naturally uncommon ecosystems.

    PubMed

    Holdaway, Robert J; Wiser, Susan K; Williams, Peter A

    2012-08-01

    Globally, ecosystems are under increasing anthropogenic pressure; thus, many are at risk of elimination. This situation has led the International Union for Conservation of Nature (IUCN) to propose a quantitative approach to ecosystem-risk assessment. However, there is a need for their proposed criteria to be evaluated through practical examples spanning a diverse range of ecosystems and scales. We applied the IUCN's ecosystem red-list criteria, which are based on changes in extent of ecosystems and reductions in ecosystem processes, to New Zealand's 72 naturally uncommon ecosystems. We aimed to test the applicability of the proposed criteria to ecosystems that are naturally uncommon (i.e., those that would naturally occur over a small area in the absence of human activity) and to provide information on the probability of ecosystem elimination so that conservation priorities might be set. We also tested the hypothesis that naturally uncommon ecosystems classified as threatened on the basis of IUCN Red List criteria contain more threatened plant species than those classified as nonthreatened. We identified 18 critically endangered, 17 endangered, and 10 vulnerable ecosystems. We estimated that naturally uncommon ecosystems contained 145 (85%) of mainland New Zealand's taxonomically distinct nationally critical, nationally endangered, and nationally vulnerable plant species, 66 (46%) of which were endemic to naturally uncommon ecosystems. We estimated there was a greater number of threatened plant species (per unit area) in critically endangered ecosystems than in ecosystems classified as nonthreatened. With their high levels of endemism and rapid and relatively well-documented history of anthropogenic change, New Zealand's naturally uncommon ecosystems provide an excellent case-study for the ongoing development of international criteria for threatened ecosystems. We suggest that interactions and synergies among decline in area, decline in function, and the scale of

  3. 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…

  4. De Garengeot hernia: an uncommon presentation of acute appendicitis.

    PubMed

    Vos, Cornelis G; Mollema, Robbert; Richir, Milan C

    2017-02-01

    We present a case of a 78-year-old female patient with an uncommon presentation of acute appendicitis. She was found to have a perforated appendicitis which developed in a femoral hernia sack. An appendix present in a femoral hernia is called a De Garengeot Hernia, which is a rare form of femoral hernia. Clinical presentation, diagnosis and management are discussed.

  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. 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

  7. Osseous Hydatidosis of Femur in a Patient with Fracture Non-union: An Uncommon Entity

    PubMed Central

    Prabhu, Anne Jennifer; George, Shyjumon

    2016-01-01

    Hydatid disease caused by the larval form of the parasitic tapeworm, Echinococcus granulosus, commonly affects the liver and lungs. Bone involvement by Hydatid is extremely uncommon and is reported in 1-3% of cases. It is often a dormant disease, presenting at a late stage with non-specific clinical and radiological findings. Usually they occur as an isolated entity without liver/lung involvement and a clinical suspicion of this disease is not possible. We report a rare case of Hydatid cyst of femur in a 25-year-old female, with unresolving non-union of fracture for five years. The occurrence of this disease in atypical locations and lack of a specific radiological sign makes the diagnosis challenging and it is important for the orthopaedicians and pathologists to be aware of this entity for a precise diagnosis. PMID:28208867

  8. CYP2C19*17 genetic polymorphism--an uncommon cause of voriconazole treatment failure.

    PubMed

    Abidi, Maheen Z; D'Souza, Anita; Kuppalli, Krutika; Ledeboer, Nathan; Hari, Parmeswaran

    2015-09-01

    We describe an immunosuppressed, 48-year-old male, allogeneic hematopoietic stem cell transplant recipient with severe graft-versus-host disease who developed invasive pulmonary Aspergillus fumigatus infection 6 months after transplant. His lack of response to voriconazole and undetectable serum trough levels of the drug led us to establish that he had the uncommon cytochrome P450, CYP2C19*17 allele, which leads to a rapid metabolism of voriconazole but not of the other azole antifungals. We discuss the particular challenges encountered in this case.

  9. Uncommon gastrointestinal complications of enteric fever in a non-endemic country

    PubMed Central

    Thandassery, Ragesh Babu; Sharma, Manik; Abdelmola, Abdellatif; Derbala, Moutaz F.M.; Al Kaabi, Saad Rashid

    2014-01-01

    Enteric fever is a systemic illness with varying presentation. It is an important infectious disease in developing countries and also in industrialized countries where many migrants reside. Enteric fever can result in complications in different organ systems and delay in identification and prompt treatment can be fatal. The important gastrointestinal complications of enteric fever include hepatitis, intestinal ulcers, bleeding and bowel perforation. We report three relatively uncommon complications of enteric fever in Qatar, a non-endemic country, ileal ulcer presenting with hematochezia; duodenal ulcer with polyserositis, cholestatic hepatitis and bone marrow suppression; enteric fever related peritonitis. PMID:25320692

  10. Uncommon gastrointestinal complications of enteric fever in a non-endemic country.

    PubMed

    Thandassery, Ragesh Babu; Sharma, Manik; Abdelmola, Abdellatif; Derbala, Moutaz F M; Al Kaabi, Saad Rashid

    2014-01-01

    Enteric fever is a systemic illness with varying presentation. It is an important infectious disease in developing countries and also in industrialized countries where many migrants reside. Enteric fever can result in complications in different organ systems and delay in identification and prompt treatment can be fatal. The important gastrointestinal complications of enteric fever include hepatitis, intestinal ulcers, bleeding and bowel perforation. We report three relatively uncommon complications of enteric fever in Qatar, a non-endemic country, ileal ulcer presenting with hematochezia; duodenal ulcer with polyserositis, cholestatic hepatitis and bone marrow suppression; enteric fever related peritonitis.

  11. [An uncommon cause for unilateral vocal fold paralisis: aortic aneurysms. Case report and literature review].

    PubMed

    Coscarón Blanco, E; Blanco García, J L; Gómez González, J L

    2006-01-01

    Unilateral vocal fold paralysis is frequently encountered during ENT practise. It may result from many different conditions and it always should be regarded as a sign revealingan underlaying disease that can be located anywhere along the traject of the tenth cranial nerve or at the cricoarytenoidjoint being malignancies and trauma the leading causes. Etiology, glottal characteristics and compensative maneuvers, and individual factors such as comorbility or age must be considered when treatment options are proposed to the patient. A case of an uncommon etiology for unilateral vocal fold paralysis, an aortic aneurysm, is presented and considerations about the management of this condition are provided.

  12. Intrahepatic clear cell cholangiocarcinoma - An uncommon histologic subtype: case report and literature review.

    PubMed

    Fernandes, Samuel Raimundo; Baldaia, Cilénia; Pinto Marques, Hugo; Tortosa, Francisco; Ramalho, Fernando

    2017-02-03

    Clear-cell cholangiocarcinoma is a very uncommon variant of cholangiocarcinoma with a largely unknown natural history and prognosis. We report a case of a 51-year-old previously healthy woman presenting with a large liver nodule found on routine imaging. Needle biopsy of the lesion suggested a non-hepatocellular carcinoma. After extensive workup for other primary neoplasms, the patient underwent a partial hepatectomy. Histopathology was compatible with a moderately differentiated clear-cell cholangiocarcinoma. There was no evidence of liver disease in the remaining tissue. The patient underwent chemotherapy and remains in clinical remission after two years.

  13. Acute Disseminated Encephalomyelitis in an Adult: An Uncommon Case of Paroxysmal Sympathetic Hyperactivity.

    PubMed

    Holder, Eric K; McCall, Joseph C; Feeko, Kristofer J

    2015-07-01

    Acute disseminated encephalomyelitis (ADEM) is an uncommon acute, rapidly progressive autoimmune demyelinating disease of the central nervous system that is most often due to infection or immunization. Generally, it is monophasic, but there is potential for recurrence and risk for development of multiple sclerosis. Although there has been literature documenting autonomic dysreflexia and hypertensive emergency in 2 pediatric cases of ADEM, to our knowledge there has not been a case detailing paroxysmal sympathetic hyperactivity in an adult patient with ADEM. This case report describes a fulminant case of ADEM and serves to expand the list of diagnoses associated with paroxysmal sympathetic hyperactivity.

  14. 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.

  15. 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

  16. Unilateral Migratory Relapsing Orbital Myositis While on Immunosuppressant Therapy: An Uncommon Entity.

    PubMed

    Singh, Swati; Mittal, Ruchi; Padhan, Prasanta; Tripathy, Devjyoti

    A young healthy female presented with acute onset left ocular pain, restricted ocular motility, and binocular diplopia. CT imaging showed left lateral rectus myositis that resolved with oral corticosteroids. Two sequential relapses occurred subsequently involving the superior rectus-levator complex followed by the medial rectus. Biopsy revealed orbital inflammatory disease with lymphocytic vasculitis. Detailed systemic work up was normal. The second relapse was seen while on long-term oral methotrexate although initial disease remission had been achieved with the same drug. A changeover to oral azathioprine was able to achieve disease remission after the second relapse. All relapses involved the same side and the contralateral orbit was not affected. This report presents the curious phenomenon of unilateral migratory relapsing orbital myositis of unknown cause that recurred even while on immunosuppressant therapy. It highlights the unpredictable nature of this uncommon entity and the challenges faced in managing such cases.

  17. Nosocomial viral infections: III. Guidelines for prevention and control of exanthematous viruses, gastroenteritis viruses, picornaviruses, and uncommonly seen viruses.

    PubMed

    Valenti, W M; Hruska, J F; Menegus, M A; Freeburn, M J

    1981-01-01

    This communication is the third in a four-part series on nosocomial viral infections from the Strong Memorial Hospital. This third article discusses guidelines for prevention and control of exanthematous viruses, gastroenteritis, viruses, adenoviruses and the picornaviruses other than rhinoviruses. Several uncommonly seen viruses, such as the virus of Creutzfeldt-Jakob disease and Marburg, Ebola, and Lassa fever viruses, also are reviewed briefly.

  18. Three uncommon adrenal incidentalomas: a 13-year surgical pathology review

    PubMed Central

    2012-01-01

    Background The discovery of adrenal incidentalomas due to the widespread use of sophisticated abdominal imaging techniques has resulted in an increasing trend of adrenal gland specimens being received in the pathology laboratory. In this context, we encountered three uncommon adrenal incidentalomas. The aim of this manuscript is to report in detail the three index cases of adrenal incidentalomas in the context of a 13-year retrospective surgical pathology review. Methods The three index cases were investigated and analyzed in detail with relevant review of the English literature as available in PubMed and Medline. A 13-year retrospective computer-based histopathological surgical review was conducted in our laboratory and the results were analyzed in the context of evidence-based literature on adrenal incidentalomas. Results A total of 94 adrenal specimens from incidentalomas were identified, accounting for 0.025% of all surgical pathology cases. In all 76.6% were benign and 23.4% were malignant. A total of 53 females (56.4%) and 41 males (43.6%) aged 4 to 85 years were identified. The benign lesions included cortical adenoma (43.1%), pheochromocytoma (29.3%) and inflammation/fibrosis/hemorrhage (8.3%). Metastatic neoplasms were the most common malignant lesions (50%) followed by primary adrenocortical carcinomas (31.8%) and neuroblastoma (13.6%). These cases were discovered as adrenal incidentalomas that led to surgical exploration. The three index cases of adrenal incidentalomas with unusual pathologies were encountered that included (a) adrenal ganglioneuroma, (b) periadrenal schwannoma and (c) primary adrenal pleomorphic leiomyosarcoma. These cases are discussed, with a literature and clinicopathological review. Conclusions Adrenal lesions are uncommon surgical specimens in the pathology laboratory. However, higher detection rates of adrenal incidentalomas aided by the ease of laparoscopic adrenalectomy has resulted in increased adrenal surgical specimens

  19. 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.

  20. Solar elastosis in its papular form: uncommon, mistakable.

    PubMed

    Heng, Jun Khee; Aw, Derrick Chen Wee; Tan, Kong Bing

    2014-01-01

    Solar elastosis is a degenerative condition of elastic tissue in the dermis due to prolonged sun exposure. There are a variety of clinical manifestations of solar elastosis. In its most common form, solar elastosis manifests as yellow, thickened, coarsely wrinkled skin. We report two uncommon cases of severe solar elastosis with a papular morphology. Its presentation can closely mimic a host of cutaneous disorders and thus, although it is helpful to be cognizant of this entity, it is still crucial to biopsy these lesions to avoid missing a more sinister condition.

  1. Perforated duodenal ulcer in a young child: an uncommon condition.

    PubMed

    Yadav, R P; Agrawal, C S; Gupta, R K; Rajbansi, S; Bajracharya, A; Adhikary, S

    2009-01-01

    Duodenal ulcer is an uncommonly diagnosed entity in children. H. pylori infection, blood group 'O' or secondary to medications like non steroidal anti-inflammatory drugs (NSAID) and corticosteroids or physiological stress in burns, head injury and mucosal ischemia are implicated as risk factors for their causation. The diagnosis is usually overlooked because of vague and variable symptoms and remote index of suspicion accounted for their low incidence in children. Undiagnosed or mistreated perforations may carry high morbidity and mortality. We report a successfully treated 41/2 year old male child who presented with features of perforation peritonitis and was incidentally found to have a perforated duodenal ulcer.

  2. Facial vein thrombophlebitis: an uncommon complication of sinusitis.

    PubMed

    Cotes, Claudia; Riascos, Roy; Swischuk, Leonard E

    2015-07-01

    Facial vein thrombophlebitis is an uncommon complication of sinusitis. In cases where periorbital swelling complicating sinusitis is diagnosed, clinical findings of swelling and erythema extending beyond the orbital region into the cheek should alert the physician about this unusual complication and the need for further contrast-enhanced imaging and venography. The radiologist must be particularly careful in the evaluation of vascular structures of the face and neck in these children. CT and MRI with contrast material and MR venography are studies that clearly demonstrate the vascular anatomy and possible complications. However, MR venography confirms flow abnormalities within the venous system with the advantage of avoiding radiation exposure to the pediatric patient.

  3. 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

  4. Infections due to emerging and uncommon medically important fungal pathogens.

    PubMed

    Walsh, T J; Groll, A; Hiemenz, J; Fleming, R; Roilides, E; Anaissie, E

    2004-03-01

    The emergence of less common but medically important fungal pathogens contributes to the rate of morbidity and mortality, especially in the increasingly expanding population of immunocompromised patients. These pathogens include septate filamentous fungi (e.g., Fusarium spp., Scedosporium spp., Trichoderma spp.), nonseptate Zygomycetes, the endemic dimorphic pathogen Penicillium marneffei, and non-Cryptococcus, non-Candida pathogenic yeast (e.g., Trichosporon spp.). The medical community is thus called upon to acquire an understanding of the microbiology, epidemiology and pathogenesis of these previously uncommon pathogens in order to become familiar with the options for prevention and treatment.

  5. Pleural mesothelioma: Case-report of uncommon occupational asbestos exposure in a small furniture industry.

    PubMed

    Oddone, Enrico; Imbriani, Marcello

    2016-01-01

    The relationship between asbestos exposure and malignant mesothelioma is no longer disputed, although it is not always easy to trace past occupational exposure. This report describes a case of uncommon asbestos exposure of a small furniture industry worker, who subsequently died of pleural malignant mesothelioma, to stress the crucial importance of a full reconstruction of the occupational history, both for legal and compensation purposes. Sarcomatoid pleural mesothelioma was diagnosed in a 70-year-old man, who was previously employed as a carpenter in a small furniture industry. He worked for about 6 years in the small factory, was exposed to asbestos during the assembly of the furniture inspired by classical architecture, in which asbestos cement tubes were used to reproduce classical columns. During this production process no specific work safety measures were applied, nor masks or local aspirators. No extra-professional exposure to asbestos was identified. This mesothelioma case was investigated by the Public Prosecutor's assignment that commissioned expert evidence on the legal accountability for the disease. Despite its uncommon expositive circumstance, the length of latency (about 30 years), the duration of exposure, the clinical and histochemical features are all consistent with literature evidence, accounting for the occupational origin of this malignancy.

  6. Venous thromboembolism at uncommon sites in neonates and children.

    PubMed

    Pergantou, Helen; Avgeri, Maria; Komitopoulou, Anna; Xafaki, Panagiota; Kapsimali, Zoey; Mazarakis, Michail; Adamtziki, Eftychia; Platokouki, Helen

    2014-11-01

    We retrospectively analyzed the data of 24 children (whereof 11 neonates), with non-central venous line-related and nonmalignancy-related venous thromboembolism (VTE) at uncommon sites, referred to our Unit from January 1999 to January 2012. Thirty patients who also suffered deep vein thrombosis, but in upper/low extremities, were not included in the analysis. The location of rare site VTE was: portal (n=7), mesenteric (n=2) and left facial vein (n=1), spleen (n=3), lung (n=3), whereas 10 neonates developed renal venous thrombosis. The majority of patients (91.7%) had at least 1 risk factor for thrombosis. Identified thrombophilic factors were: antiphospholipid antibodies (n=2), FV Leiden heterozygosity (n=6), MTHFR C677T homozygosity (n=4), protein S deficiency (n=2), whereas all neonates had age-related low levels of protein C and protein S. All but 6 patients received low-molecular-weight heparin, followed by warfarin in 55% of cases, for 3 to 6 months. Prolonged anticoagulation was applied in selected cases. During a median follow-up period of 6 years, the clinical outcome was: full recovery in 15 patients, evolution to both chronic portal hypertension and esophageal varices in 2 children, and progression to renal failure in 7 of 10 neonates. Neonates are greatly vulnerable to complications after VTE at uncommon sites, particularly renal. Future multicentre long-term studies on neonatal and pediatric VTE at unusual sites are considered worthwhile.

  7. 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.

  8. An uncommon course of the right superior vena cava in a patient with heterotaxy syndrome.

    PubMed

    Chenu, Caroline; Fouilloux, Virginie; Kreitmann, Bernard; Metras, Dominique

    2012-01-01

    We present the case of an infant with congenital heart disease which includes a partial atrioventricular canal defect with the absence of the atrial septum (common atrium) and an extremely uncommon course of the right-sided superior vena cava (SVC) including an intra-atrial segment coursing intramurally along the right posterolateral atrial wall, with an intracardiac orifice situated low within the right side of the atrium, close to the atrial orifice of the right hepatic veins. This feature of the anatomy was discovered intraoperatively at the time of surgical repair. Systemic venous anatomy also included interrupted inferior vena cava (IVC) with azygos continuation to a left-sided SVC draining directly into the left side of the atrium. The successful surgical procedure included tunneling of the left-sided SVC to the right side of the common atrium and atrial septation with a patch.

  9. Ureteral inguinal hernia: an uncommon trap for general surgeons

    PubMed Central

    Yahya, Zarif; Al-habbal, Yahya; Hassen, Sayed

    2017-01-01

    Inguinal hernias involving the ureter, a retroperitoneal structure, is an uncommon phenomenon. It can occur with or without obstructive uropathy, the latter posing a trap for the unassuming general surgeon performing a routine inguinal hernia repair. Ureteral inguinal hernia should be included as a differential when a clinical inguinal hernia is diagnosed concurrently with unexplained hydronephrosis, renal failure or urinary tract infection particularly in a male. The present case describes a patient with a known ureteroinguinal hernia who proceeded to having a planned hernia repair and ureteric protection. The case is a reminder that when faced with an unexpected finding such an indirect sliding inguinal hernia, extreme care should be taken to ensure that no structures are inadvertently damaged and that a rare possibility is the entrapment of the ureter in the inguinal canal. PMID:28275027

  10. 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

  11. Sialosis: Cytomorphological significance in the diagnosis of an uncommon entity

    PubMed Central

    Jagtap, Sunil Vitthalrao; Aramani, Shakuntala S; Mane, Avinash; Bonde, Vijay

    2017-01-01

    A diffuse, chronic, usually bilateral, noninflammatory, nonneoplastic enlargement of major salivary glands is termed as Sialosis or Sialadenosis. It is an extremely uncommon cause for enlargement of the parotid gland. We hereby present a case of a 45-year-old female patient having a swelling at the left preauricular region. The swelling was gradually increasing in size since 6 months. On clinical examination, the swelling was 3 cm × 3 cm, mobile, and nontender. On ultrasonography, it was suggestive of benign parotid lesion or parotitis with cervical lymphadenopathy. On fine needle aspiration cytology, it was suggestive of sialadenosis. This is an extremely rare salivary gland lesion with specific cellular features. It is very important to distinguish sialadenosis from other causes of enlargement of the parotid gland as treatment modality differs. PMID:28182067

  12. Sialosis: Cytomorphological significance in the diagnosis of an uncommon entity.

    PubMed

    Jagtap, Sunil Vitthalrao; Aramani, Shakuntala S; Mane, Avinash; Bonde, Vijay

    2017-01-01

    A diffuse, chronic, usually bilateral, noninflammatory, nonneoplastic enlargement of major salivary glands is termed as Sialosis or Sialadenosis. It is an extremely uncommon cause for enlargement of the parotid gland. We hereby present a case of a 45-year-old female patient having a swelling at the left preauricular region. The swelling was gradually increasing in size since 6 months. On clinical examination, the swelling was 3 cm × 3 cm, mobile, and nontender. On ultrasonography, it was suggestive of benign parotid lesion or parotitis with cervical lymphadenopathy. On fine needle aspiration cytology, it was suggestive of sialadenosis. This is an extremely rare salivary gland lesion with specific cellular features. It is very important to distinguish sialadenosis from other causes of enlargement of the parotid gland as treatment modality differs.

  13. 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

  14. Recognizing Uncommon Presentations of Psychogenic (Functional) Movement Disorders

    PubMed Central

    Baizabal-Carvallo, José Fidel; Fekete, Robert

    2015-01-01

    Background Psychogenic or functional movement disorders (PMDs) pose a challenge in clinical diagnosis. There are several clues, including sudden onset, incongruous symptoms, distractibility, suggestibility, entrainment of symptoms, and lack of response to otherwise effective pharmacological therapies, that help identify the most common psychogenic movements such as tremor, dystonia, and myoclonus. Methods In this manuscript, we review the frequency, distinct clinical features, functional imaging, and neurophysiological tests that can help in the diagnosis of uncommon presentations of PMDs, such as psychogenic parkinsonism, tics, and chorea; facial, palatal, and ocular movements are also reviewed. In addition, we discuss PMDs at the extremes of age and mass psychogenic illness. Results Psychogenic parkinsonism (PP) is observed in less than 10% of the case series about PMDs, with a female–male ratio of roughly 1:1. Lack of amplitude decrement in repetitive movements and of cogwheel rigidity help to differentiate PP from true parkinsonism. Dopamine transporter imaging with photon emission tomography can also help in the diagnostic process. Psychogenic movements resembling tics are reported in about 5% of PMD patients. Lack of transient suppressibility of abnormal movements helps to differentiate them from organic tics. Psychogenic facial movements can present with hemifacial spasm, blepharospasm, and other movements. Some patients with essential palatal tremor have been shown to be psychogenic. Convergence ocular spasm has demonstrated a high specificity for psychogenic movements. PMDs can also present in the context of mass psychogenic illness or at the extremes of age. Discussion Clinical features and ancillary studies are helpful in the diagnosis of patients with uncommon presentations of psychogenic movement disorders. PMID:25667816

  15. Determining EGFR-TKI sensitivity of G719X and other uncommon EGFR mutations in non-small cell lung cancer: Perplexity and solution

    PubMed Central

    Li, Kaidi; Yang, Maojun; Liang, Naixin; Li, Shanqing

    2017-01-01

    Mutations in epidermal growth factor receptor (EGFR) play critical roles in the pathogenesis of non-small cell lung cancer (NSCLC), and they are highly associated with sensitivity to tyrosine kinase inhibitors (TKIs). While the pathogenic and pharmacological characteristics of common mutations in EGFR have been thoroughly investigated, those of uncommon mutations remain to be elucidated. Traditional approaches to study common mutations by randomized controlled trials are not feasible for uncommon mutations owing to their rarity. Therefore, by systematically reviewing laboratory and clinical studies of the G719X mutation, one of the uncommon mutations, we concluded that the G719X mutation was intermediately sensitive to TKIs, with an average response rate of 35.1% (47/134). Moreover, accordingly, we proposed a comprehensive model to investigate uncommon mutations in EGFR. The model involves both basic and clinical components, composed of structural analyses, functional alterations, cell viabilities and animal models with various types of clinical studies. In this review, we systematically reviewed studies of the G719X mutation and put forward a research model that could be generalized to explore uncommon mutations in diseases associated with gene mutations. PMID:28184913

  16. 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

  17. Typical uses of certain common and uncommon plants.

    PubMed

    Hota, N P; Padhi, M M

    2003-07-01

    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 20(th) 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.

  18. Trends in photomechanics: fashion, practicality, and uncommon applications

    NASA Astrophysics Data System (ADS)

    Cloud, Gary L.

    1994-11-01

    Many advances in optics theory and technology have been stimulated by the demands of engineering research. From another viewpoint, the science of optics unifies diverse important areas of experimental research. Fundamental problems in fluid mechanics, rock mechanics, biomechanics, fracture mechanics, materials science, manufacturing technology, nondestructive inspection, and glacier mechanics are being solved by methods of optical metrology. The development of expertise and facilities to have in hand the most appropriate of available techniques is a forbidding task, but it is necessary in order to solve problems in the most efficient way. This paper describes in elementary terms some examples of applications which are relatively uncommon, including biomechanical contouring, glacier strain and flow measurement, 3-dimensional fracture mechanics, and nondestructive inspection of composites. In each case, one or more techniques, some fashionable and some old-fashioned, were adapted, extended or combined to perform the necessary measurements. The rationales for choosing the methods to solve each problem are outlined. The techniques include electronic speckle, electronic shearography, moire interferometry, moire photography with optical filtering, differential moire contouring, Doppler velocimetry, and noncoherent-light speckle photography.

  19. Material Development Needs in the Uncommonly Taught Languages: Priorities for the Seventies.

    ERIC Educational Resources Information Center

    Center for Applied Linguistics, Arlington, VA.

    This volume contains papers presented at the Kittamaqundi Conference on the Uncommonly-Taught Languages, in Columbia, Maryland, September 29-October 2, 1974. The volume has two main sections. The first contains papers dealing with conceptual issues of developing materials for uncommonly-taught languages, without extended reference to any specific…

  20. The uncommon case of Jahi McMath.

    PubMed

    Luce, John M

    2015-04-01

    A 13-year-old patient named Jahi McMath was determined to be dead by neurologic criteria following cardiopulmonary arrest and resuscitation at a hospital in Oakland, California. Her family did not agree that she was dead and refused to allow her ventilator to be removed. The family's attorney stated in the media that families, rather than physicians, should decide whether patients are dead and argued in the courts that the families' constitutional rights of religion and privacy would be violated otherwise. Ultimately, a judge agreed that the patient was dead in keeping with California law, but the constitutional issue was undecided. The patient was then transferred to a hospital in New Jersey, a state whose laws allow families to require on religious grounds that death be determined by cardiopulmonary criteria. Although cases such as this are uncommon, they demonstrate public confusion about the concept of neurologic death and the rejection of this concept by some families. The confusion may be caused in part by a lack of uniformity in state laws regarding the legal basis of death, as reflected in the differences between New Jersey and California statutes. Families who reject the determination of death by neurologic criteria on religious grounds should be given reasonable accommodation in all states, but society should not pay for costly treatments for patients who meet these criteria unless the state requires it, as only New Jersey does. Laws that give physicians the right to determine death by neurologic criteria in other states probably can survive a constitutional challenge. Physicians and hospitals faced with similar cases in the future should follow state laws and work through the courts if necessary.

  1. Predicting mortality for paediatric inpatients where malaria is uncommon

    PubMed Central

    Clifton, Dana C; Ramadhani, Habib O; Msuya, Levina J; Njau, Boniface N; Kinabo, Grace D; Buchanan, Ann M; Crump, John A

    2012-01-01

    Objective As the proportion of children living low malaria transmission areas in sub-Saharan Africa increases, approaches for identifying non-malarial severe illness need to be evaluated to improve child outcomes. Design As a prospective cohort study, we identified febrile paediatric inpatients, recorded data using Integrated Management of Childhood Illness (IMCI) criteria, and collected diagnostic specimens. Setting Tertiary referral centre, northern Tanzania. Results Of 466 participants with known outcome, median age was 1.4 years (range 2 months–13.0 years), 200 (42.9%) were female, 11 (2.4%) had malaria and 34 (7.3%) died. Inpatient death was associated with: Capillary refill >3 s (OR 9.0, 95% CI 3.0 to 26.7), inability to breastfeed or drink (OR 8.9, 95% CI 4.0 to 19.6), stiff neck (OR 7.0, 95% CI 2.8 to 17.6), lethargy (OR 5.2, 95% CI 2.5 to 10.6), skin pinch >2 s (OR 4.8, 95% CI 1.9 to 12.3), respiratory difficulty (OR 4.0, 95% CI 1.9 to 8.2), generalised lymphadenopathy (OR 3.6, 95% CI 1.6 to 8.3) and oral candidiasis (OR 3.4, 95% CI 1.4 to 8.3). BCS <5 (OR 27.2, p<0.001) and severe wasting (OR 6.9, p<0.001) were independently associated with inpatient death. Conclusions In a low malaria transmission setting, IMCI criteria performed well for predicting inpatient death from non-malarial illness. Laboratory results were not as useful in predicting death, underscoring the importance of clinical examination in assessing prognosis. Healthcare workers should consider local malaria epidemiology as malaria over-diagnosis in children may delay potentially life-saving interventions in areas where malaria is uncommon. PMID:22872067

  2. Viral Infection Is Not Uncommon in Adult Patients with Severe Hospital-Acquired Pneumonia

    PubMed Central

    Hong, Hyo-Lim; Hong, Sang-Bum; Ko, Gwang-Beom; Huh, Jin Won; Sung, Heungsup; Do, Kyung-Hyun; Kim, Sung-Han; Lee, Sang-Oh; Kim, Mi-Na; Jeong, Jin-Yong; Lim, Chae-Man; Kim, Yang Soo; Woo, Jun Hee; Koh, Younsuck; Choi, Sang-Ho

    2014-01-01

    Background Viral pathogens have not generally been regarded as important causes of severe hospital-acquired pneumonia (HAP), except in patients with hematologic malignancy or transplant recipients. We investigated the role and distribution of viruses in adult with severe HAP who required intensive care. Methods From March 2010 to February 2012, adult patients with severe HAP required admission to the intensive care unit (ICU), 28-bed medical ICU in a tertiary care hospital, were prospectively enrolled. Respiratory viruses were detected using multiplex reverse-transcription polymerase chain reaction and/or shell vial culture. Results A total of 262 patients were enrolled and 107 patients (40.8%) underwent bronchoscopic BAL for etiologic diagnosis. One hundred and fifty-six patients (59.5%) had bacterial infections and 59 patients (22.5%) had viral infections. Viruses were detected in BAL fluid specimens of 37 patients (62.7%, 37/59). The most commonly identified viruses were respiratory syncytial virus and parainfluenza virus (both 27.1%, 16/59), followed by rhinovirus (25.4%, 15/59), and influenza virus (16.9%, 10/59). Twenty-one patients (8.0%, 21/262) had bacterial-viral coinfections and Staphylococcus aureus was the most commonly coexisting bacteria (n = 10). Viral infection in non-immunocompromised patients was not uncommon (11.1%, 16/143), although it was not as frequent as that in immunocompromised patients (36.4%, 43/119). Non-immunocompromised patients were significantly older than immunocompromised patients and had significantly higher rates of underlying chronic obstructive pulmonary disease, tuberculous destroyed lung and chronic kidney disease. The 28 day mortalities of patients with bacterial infections, viral infections and bacterial-viral coinfections were not significantly different (29.5%, 35.6% and 19.0%, respectively; p = 0.321). Conclusions Viral pathogens are not uncommon in adult patients with severe HAP who required ICU admission

  3. Cancer Risk in Astronauts: A Constellation of Uncommon Consequences

    NASA Technical Reports Server (NTRS)

    Milder, Caitlin M.; Elgart, S. Robin; Chappell, Lori; Charvat, Jaqueline M.; Van Baalen, Mary; Huff, Janice L.; Semones, Edward J.

    2017-01-01

    Excess cancers resulting from external radiation exposures have been noted since the early 1950s, when a rise in leukemia rates was first reported in young atomic bomb survivors [1]. Further studies in atomic bomb survivors, cancer patients treated with radiotherapy, and nuclear power plant workers have confirmed that radiation exposure increases the risk of not only leukemia, but also a wide array of solid cancers [2,3]. NASA has long been aware of this risk and limits astronauts' risk of exposure-induced death (REID) from cancer by specifying permissible mission durations (PMD) for astronauts on an individual basis. While cancer is present among astronauts, current data does not suggest any excess of known radiation-induced cancers relative to a comparable population of U.S. adults; however, very uncommon cancers have been diagnosed in astronauts including nasopharyngeal cancer, lymphoma of the brain, and acral myxoinflammatory fibroblastic sarcoma. In order to study cancer risk in astronauts, a number of obstacles must be overcome. Firstly, several factors make the astronaut cohort considerably different from the cohorts that have previously been studied for effects resulting from radiation exposure. The high rate of accidents and the much healthier lifestyle of astronauts compared to the U.S. population make finding a suitable comparison population a problematic task. Space radiation differs substantially from terrestrial radiation exposures studied in the past; therefore, analyses of galactic cosmic radiation (GCR) in animal models must be conducted and correctly applied to the human experience. Secondly, a large enough population of exposed astronauts must exist in order to obtain the data necessary to see any potential statistically significant differences between the astronauts and the control population. Thirdly, confounders and effect modifiers, such as smoking, diet, and other space stressors, must be correctly identified and controlled for in those

  4. Common Symptoms from an Uncommon Infection: Gastrointestinal Anisakiasis.

    PubMed

    Shimamura, Yuto; Muwanwella, Niroshan; Chandran, Sujievvan; Kandel, Gabor; Marcon, Norman

    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.

  5. 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

  6. Prenatal diagnoses of an uncommon isolated obstructed supracardiac total anomalous pulmonary venous connection

    PubMed Central

    Muntean, Iolanda; Mărginean, Claudiu; Stanca, Răzvan; Togănel, Rodica; Pop, Marian; Gozar, Liliana

    2017-01-01

    Abstract Introduction: Total anomalous pulmonary venous connection is an uncommon congenital heart disease. Four types are described based on the site of pulmonary venous drainage: supracardiac, cardiac, infradiaphragmathic, and mixed connection. In most cases of supracardiac type, the common venous confluence drains through an ascending left vertical vein into the brachiocephalic vein, right superior vena cava, and then into the right atrium. Anomalous connection of the pulmonary venous confluence directly to the right SVC, especially the obstructed form is an unusual and severe supracardiac variant. The prenatal diagnosis is challenging. Patient concerns: We present a case report of a fetus diagnosed with TAPVC at 23 gestational weeks. Diagnosis interventions: The 4-chamber view showed a small left atrium, with a “smooth” posterior wall and the absence of pulmonary vein connection. This is the first case of prenatally diagnosed isolated, obstructed supracardiac type with drainage directly into the right superior vena cava. Conclusion: The obstetrician and fetal cardiologist should be cautious at the direct and indirect echocardiographic signs of this condition. A prenatal diagnose of isolated, obstructed form is important for adequate planning of delivery and postnatal surgery in a tertiary center. PMID:28151919

  7. Uncommon Mixed Type I and II Choledochal Cyst: An Indonesian Experience

    PubMed Central

    Siahaya, Fransisca J.; Lalisang, Toar J. M.; Jeo, Wifanto S.; Simanjuntak, Arnold B. H.; Philippi, Benny

    2013-01-01

    Bile duct cyst is an uncommon disease worldwide; however, its incidence is remarkably high in Asian population, primarily in children. Nevertheless, the mixed type choledochal cysts are extremely rare especially in adults. A case report of a 20-year-old female with a history of upper abdominal pain that was diagnosed with cholecystitis with stone and who underwent laparoscopic cholecystectomy is discussed. Choledochal malformation was found intraoperatively. Magnetic resonance cholangiography (MRCP) and USG after first surgery revealed extrahepatic fusiform dilatation of the CBD; therefore, provisional diagnosis of type I choledochal cyst was made. Complete resection of the cyst was performed, and a mixed type I and II choledochal cyst was found intraoperatively. Bile duct reconstruction was carried out with Roux-en-Y hepaticojejunostomy. The mixed type I and II choledochal cysts are rare in adults, and this is the third adult case that has been reported. The mixed type can be missed on radiology imaging, and diagnosing the anomaly is only possible after a combination of imaging and intraoperative findings. Mixed type choledochal cyst classification should not be added to the existing classification since it does not affect the current operative techniques. PMID:23781379

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

    PubMed

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

    2012-12-01

    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.

  9. Uncommon Mixed Type I and II Choledochal Cyst: An Indonesian Experience.

    PubMed

    Siahaya, Fransisca J; Lalisang, Toar J M; Jeo, Wifanto S; Simanjuntak, Arnold B H; Philippi, Benny

    2013-01-01

    Bile duct cyst is an uncommon disease worldwide; however, its incidence is remarkably high in Asian population, primarily in children. Nevertheless, the mixed type choledochal cysts are extremely rare especially in adults. A case report of a 20-year-old female with a history of upper abdominal pain that was diagnosed with cholecystitis with stone and who underwent laparoscopic cholecystectomy is discussed. Choledochal malformation was found intraoperatively. Magnetic resonance cholangiography (MRCP) and USG after first surgery revealed extrahepatic fusiform dilatation of the CBD; therefore, provisional diagnosis of type I choledochal cyst was made. Complete resection of the cyst was performed, and a mixed type I and II choledochal cyst was found intraoperatively. Bile duct reconstruction was carried out with Roux-en-Y hepaticojejunostomy. The mixed type I and II choledochal cysts are rare in adults, and this is the third adult case that has been reported. The mixed type can be missed on radiology imaging, and diagnosing the anomaly is only possible after a combination of imaging and intraoperative findings. Mixed type choledochal cyst classification should not be added to the existing classification since it does not affect the current operative techniques.

  10. Comparison of uncommon EGFR exon 21 L858R compound mutations with single mutation.

    PubMed

    Peng, Liang; Song, Zhigang; Jiao, Shunchang

    2015-01-01

    Non-small-cell lung cancer with epidermal growth factor receptor (EGFR) mutation is sensitive to EGFR tyrosine kinase inhibitors (TKIs). But little is known about the response to EGFR TKIs and the prognostic role of compound mutations. This study compared the uncommon EGFR exon 21 L858R compound mutations with single mutation to characterize EGFR compound mutations and investigated their response to EGFR TKI treatment. We retrospectively screened 799 non-small-cell lung cancer patients from August 1, 2009 to June 1, 2012 by EGFR mutation testing. EGFR mutations were detected in 443 patients, with 22 (4.97%) compound mutations. Subsequently, six patients with EGFR exon 21 L858R compound mutations and 18 paired patients with single L858R mutation were well characterized. Finally, we also analyzed the EGFR TKI treatment response and patients' outcomes of compound or single L858R mutations. There was no differential treatment effect on the disease control rate and objective response rate between the L858R compound mutations and single mutation groups. No significant difference in overall survival or progression-free survival of these two groups was found by log-rank test. In conclusion, we demonstrated that no significant difference was detected in the response to EGFR TKIs and patients' outcomes in the compound and single mutation groups.

  11. Pericardial Effusion due to Primary Malignant Pericardial Mesothelioma: A Common Finding but an Uncommon Cause

    PubMed Central

    Meisel, Simcha R.; Frimerman, Aaron; Lapidot, Moshe; Rachmilevitch, Ronit

    2016-01-01

    This case report describes a 37-year-old female who was admitted to our Emergency Department because of shortness of breath. On physical examination, she had dyspnea and tachycardia and blood pressure was 80/50 mmHg with a pulsus paradoxus of 22 mmHg. Neck veins were distended, heart sounds were distant, and dullness was found on both lung bases. Her chest X-ray revealed bilateral pleural effusion and cardiomegaly. On both computed tomography and echocardiography the heart was of normal size and a large pericardial effusion was noted. The echocardiogram showed signs of impending tamponade, so the patient underwent an emergent pericardiocentesis. No infectious etiology was found and she was assumed to have viral pericarditis and was treated accordingly. However, when the pericardial effusion recurred and empirical therapy for tuberculosis failed, a pericardial window was performed. A typical staining pattern for mesothelioma was found on her pericardial biopsy specimen. Since no other mesodermal tissue was affected, a diagnosis of primary malignant pericardial mesothelioma was made. Chemotherapy was not effective and she passed away a year after the diagnosis was made. This case highlights the difficulties in diagnosing this uncommon disease in patients that present with the common finding of pericardial effusion. PMID:28003826

  12. 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.

  13. An Uncommon Cause of a Small-Bowel Obstruction.

    PubMed

    Zakaria, Ali; Al Share, Bayan; Turk, Issam; Ahsan, Samira; Farra, Waseem

    2017-01-01

    Sarcoidosis is a systemic granulomatous disease of unknown etiology, characterized by the formation of noncaseating granulomas. Gastrointestinal (GI) system involvement that is clinically recognizable occurs in less than 0.9% of patients with sarcoidosis, with data revealing small intestine involvement in 0.03% of the cases. A high index of suspension is required in patients presenting with small-bowel obstruction and previous history of sarcoidosis. Establishing a definitive diagnosis of GI sarcoidosis depends on biopsy evidence of noncaseating granulomas, exclusion of other causes of granulomatous disease, and evidence of sarcoidosis in at least one other organ system. Treatment of GI sarcoidosis depends on symptomatology and disease activity. Herein, we are presenting a case of 67-year-old female patient who had acute small-bowel obstruction at the level of jejunum with postoperative histopathologic evidence of noncaseating granulomatous inflammation with multinucleated giant cells, consistent with sarcoidosis.

  14. An Uncommon Cause of a Small-Bowel Obstruction

    PubMed Central

    Al Share, Bayan; Turk, Issam; Farra, Waseem

    2017-01-01

    Sarcoidosis is a systemic granulomatous disease of unknown etiology, characterized by the formation of noncaseating granulomas. Gastrointestinal (GI) system involvement that is clinically recognizable occurs in less than 0.9% of patients with sarcoidosis, with data revealing small intestine involvement in 0.03% of the cases. A high index of suspension is required in patients presenting with small-bowel obstruction and previous history of sarcoidosis. Establishing a definitive diagnosis of GI sarcoidosis depends on biopsy evidence of noncaseating granulomas, exclusion of other causes of granulomatous disease, and evidence of sarcoidosis in at least one other organ system. Treatment of GI sarcoidosis depends on symptomatology and disease activity. Herein, we are presenting a case of 67-year-old female patient who had acute small-bowel obstruction at the level of jejunum with postoperative histopathologic evidence of noncaseating granulomatous inflammation with multinucleated giant cells, consistent with sarcoidosis. PMID:28386490

  15. Uncommon case of brain metastasis in a patient with a history of heavy smoking.

    PubMed

    Scharl, M; Bode, B; Rushing, E; Knuth, A; Rordorf, T

    2014-10-01

    Primary sarcomas of the aorta are extremely uncommon. Depending on histomorphology and immunohistochemical pattern, intimal sarcomas can show angiosarcomatous differentiation. Here, we describe the case of a 60-year-old woman with a primary intimal sarcoma of the aortic arch and signs of cerebral metastatic disease as the initial manifestation. After the patient experienced the onset of severe headaches, ataxia, and left-sided weakness, magnetic resonance imaging showed several brain lesions. Histologic assessment of a brain biopsy specimen revealed a malignant tumour composed of large pleomorphic cells that were positive for pancytokeratin and CD10. Radiation to the brain did not significantly improve the patient's symptoms, and cranial computed tomography (ct) imaging revealed several metastases, indicating lack of response. Because of the patient's smoking history, the presence of central nervous system and skeletal metastases on combined positron-emission tomography and ct imaging, and the focal pan-cytokeratin positivity of the tumour, carcinoma of the lung was favoured as the primary tumour. Despite chemotherapy with cisplatin and etoposide, the patient's neurologic symptoms and general condition deteriorated rapidly, and she died within a few days. At autopsy, an undifferentiated intimal sarcoma of the aortic arch was diagnosed. The primary tumour in the aorta consisted of large pleomorphic cells. Immunohistochemical analysis of the aortic tumour and brain metastases demonstrated diffuse positivity for vimentin and p53 and focal S-100 staining. In summary, we report a challenging case of advanced intimal sarcoma of the aortic arch with brain and bone metastases at initial presentation. Our report demonstrates the difficulties in diagnosing and treating this disease, and the need for multicentre studies to accrue more patients for investigations of optimal therapy.

  16. Uncommon case of brain metastasis in a patient with a history of heavy smoking

    PubMed Central

    Scharl, M.; Bode, B.; Rushing, E.; Knuth, A.; Rordorf, T.

    2014-01-01

    Primary sarcomas of the aorta are extremely uncommon. Depending on histomorphology and immunohistochemical pattern, intimal sarcomas can show angiosarcomatous differentiation. Here, we describe the case of a 60-year-old woman with a primary intimal sarcoma of the aortic arch and signs of cerebral metastatic disease as the initial manifestation. After the patient experienced the onset of severe headaches, ataxia, and left-sided weakness, magnetic resonance imaging showed several brain lesions. Histologic assessment of a brain biopsy specimen revealed a malignant tumour composed of large pleomorphic cells that were positive for pancytokeratin and CD10. Radiation to the brain did not significantly improve the patient’s symptoms, and cranial computed tomography (ct) imaging revealed several metastases, indicating lack of response. Because of the patient’s smoking history, the presence of central nervous system and skeletal metastases on combined positron-emission tomography and ct imaging, and the focal pan-cytokeratin positivity of the tumour, carcinoma of the lung was favoured as the primary tumour. Despite chemotherapy with cisplatin and etoposide, the patient’s neurologic symptoms and general condition deteriorated rapidly, and she died within a few days. At autopsy, an undifferentiated intimal sarcoma of the aortic arch was diagnosed. The primary tumour in the aorta consisted of large pleomorphic cells. Immunohistochemical analysis of the aortic tumour and brain metastases demonstrated diffuse positivity for vimentin and p53 and focal S-100 staining. In summary, we report a challenging case of advanced intimal sarcoma of the aortic arch with brain and bone metastases at initial presentation. Our report demonstrates the difficulties in diagnosing and treating this disease, and the need for multicentre studies to accrue more patients for investigations of optimal therapy. PMID:25302044

  17. Streptococcus agalactiae Native Valve Endocarditis: Uncommon Presentation of Multiple Myeloma.

    PubMed

    Pinho Oliveira, Ana; Delgado, Anne; Martins, Cláudia; Gama, Pedro

    2016-08-01

    Adults with chronic immunosuppressive conditions are at an increased risk for Streptococcus agalactiae endocarditis, which is typically characterized by acute onset, presence of large vegetations, rapid valvular destruction and frequent complications. We report a rare case of a 74 years old man presenting with fever, renal infarction, ischemic stroke and uveitis. Infective endocarditis was diagnosed and Streptococcus agalactiae was isolated in blood cultures. A multiple myeloma Ig G-K was also diagnosed. The infective endocarditis was successfully treated with a course of benzylpenicillin and gentamicin. The authors highlight the severity of vascular embolic disease present in this case and the diagnostic challenge. They also intend to remind about the association between Streptococcus agalactiae endocarditis and chronic diseases, despite its low reported prevalence.

  18. Hypocobalaminaemia is uncommon in cats in the United Kingdom.

    PubMed

    Ibarrola, Patricia; Blackwood, Laura; Graham, Peter A; Evans, Helen; German, Alexander J

    2005-12-01

    Recent work has highlighted the importance of cobalamin deficiency in cats with a range of alimentary tract diseases. The primary aim of our study was to determine the incidence of subnormal cobalamin concentrations in sick cats with and without alimentary system disorders. Firstly, serum cobalamin concentrations were measured in a population of cats, with and without gastrointestinal (GI) disease, evaluated at a referral hospital. In the second part of the study, the incidence of cobalamin deficiency was assessed in samples submitted to a commercial laboratory specifically for cobalamin measurement. For both studies, a validated radioimmunoassay was used to measure serum cobalamin concentrations (reference range: > 150 pg/ml). In the first part of the study, 132 cats were included and none of these cats had subnormal cobalamin concentrations (median=1,172; range: 278 to >2,000). There were no differences in cobalamin concentrations between cats with alimentary system disorders, and those with diseases of other organs. In the second part, 682 samples were submitted for cobalamin assay over a period of 3 years, and only one cat had a result below the reference range (median=794; range: 147 to >2,000). Cobalamin deficiency was rare in the population tested and this may suggest that the incidence of this biochemical abnormality is less common than reported in the USA.

  19. [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.

  20. 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

  1. Lupus Flare: An Uncommon Presentation of Disseminated Gonorrhea

    PubMed Central

    Kim, Joyce

    2014-01-01

    Gonorrhea is one of the most common sexually transmitted diseases in the US with 700,000 annual cases. Although most cases of gonorrhea are localized, approximately 0.5–3% become disseminated. Here we discuss a rare case of a patient with systemic lupus erythematosus (SLE) who developed septic shock from disseminated gonorrhea infection (DGI). Our patient is a 24-year-old woman with SLE, mixed connective tissue disease with cutaneous vasculitis, and lupus nephritis who presented with several weeks of malaise and generalized body aches associated with a diffuse rash along her fingers, palms, and trunk. Infectious workup was unrevealing with the exception of a positive gonorrhea test obtained from a cervical swab. Given her symptoms of tenosynovitis, the appearance of her skin lesions, and her positive gonorrhea test, she was diagnosed with septic shock secondary to DGI. With antibiotic treatment, the patient reported a dramatic improvement of the pain in her swollen joints and her rash receded. Patients diagnosed with SLE carry an increased risk of gonorrhea regardless of whether or not they are being treated for their SLE. Although it is well-documented that SLE is associated with severe DGI, few describe it resulting in overt septic shock. PMID:25024709

  2. 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.

  3. Streptococcal pharyngitis: an uncommon cause of subdural empyema.

    PubMed

    Walden, Jeffrey Howard; Hess, Bryan; Rigby, Michael

    2015-09-18

    A 7-year-old girl with an unremarkable medical history presented to a local paediatric emergency department with a 7-day history of fever, sore throat and vomiting, and a 1-day history of rash. She was admitted to the hospital, with presumed Kawasaki disease. A few hours after admission, the patient had sudden onset of two witnessed tonic-clonic seizures and subsequent decreased mental status. She was transferred to the paediatric intensive care unit and started on broad-spectrum antibiotics. On hospital day 2, cerebral spinal fluid cultures and blood cultures grew Streptococcus pyogenes, and repeat physical examination was consistent with acute streptococcal pharyngitis. On hospital day 3, the patient developed left-sided hemiparesis and had another witnessed seizure. A CT scan was obtained and revealed a subdural abscess. She was transferred to a tertiary care centre and underwent craniotomy with evacuation of her subdural abscess. Surgical cultures eventually grew S. pyogenes.

  4. Dermopathy of Graves' disease: Clinico-pathological correlation.

    PubMed

    Reddy, Sagili Vijaya Bhaskar; Gupta, Sushil Kumar; Jain, Manoj

    2012-05-01

    Dermopathy of Graves' disease is a classical, but uncommon extrathyroidal manifestation of Graves' disease. The images of a typical case of dermopathy of Graves' disease are presented along with clinico-pathological correlation.

  5. Diversity and uncommon HPV types in HIV seropositive and seronegative women attending an STI clinic

    PubMed Central

    de Mattos, Adriana Tonani; de Freitas, Luciana Bueno; Lima, Bettina Moulin Coelho; Miranda, Angélica Espinosa; Spano, Liliana Cruz

    2011-01-01

    Given the causal relationship between specific types of HPV with cervical cancer and precursor lesions, it is important to identify the viral type involved. The aim of this study is to access the prevalence of HPV types in HIV seropositive and seronegative women. Accordingly, 77 HPV positive cervical samples were obtained from 284 women (seropositive (n=112) and seronegative (n=172) for HIV) who attended a Sexually Transmitted Infection clinic, in Vitoria, Southeastern Brazil. Viral DNA was amplified by PCR using MY09/MY11 degenerated primers and the genotyping was performed by Restriction Fragment Length Polymorphism. Seventy five out of the 77 HPV samples were genotyped: 6, 11, 13, 16, 18, 26, 31, 31b, 32, 33, 34, 35, 52, 53, 55, 56, 58, 59, 61, 62, 64, 66, 71, 81, 83, 84. The most prevalent type was HPV16 followed by HPV types 6, 11 and 53. Fifty five percent and 45% belonged to high and low risk types, respectively. High risk types corresponded to 59% and 54.5% of the HPV detected in HIV seronegative and seropositive women, respectively. The uncommon HPV 13 type in cervical samples was also observed in this study. The oncogenic types were more common in the HIV seronegative samples and the number of cases with multiple infections was similar for the two groups. HPV typing is not only important clinically for the establishment of monitoring and treatment of a patient, it also provides knowledge of the viral types circulating in a population, which is of interest in the development of prevention and treatment programs for this disease. PMID:24031694

  6. Primary bone marrow lymphoma: an uncommon extranodal presentation of aggressive non-hodgkin lymphomas.

    PubMed

    Martinez, Antonio; Ponzoni, Maurilio; Agostinelli, Claudio; Hebeda, Konnie M; Matutes, Estella; Peccatori, Jacopo; Campidelli, Cristina; Espinet, Blanca; Perea, Granada; Acevedo, Agustin; Mehrjardi, Ali Zare; Martinez-Bernal, Monica; Gelemur, Marta; Zucca, Emanuele; Pileri, Stefano; Campo, Elias; López-Guillermo, Armando; Rozman, Maria

    2012-02-01

    Bone marrow involvement by lymphoma is considered a systemic dissemination of the disease arising elsewhere, although some tumors may arise primarily in the bone marrow microenvironment. Primary bone marrow lymphoma (PBML) is a rare entity whose real boundaries and clinicobiological significance are not well defined. Criteria to diagnose PBML encompass isolated bone marrow infiltration, with no evidence of nodal or extranodal involvement, including the bone, and the exclusion of leukemia/lymphomas that are considered to primarily involve the bone marrow. Twenty-one out of 40 lymphomas retrospectively reviewed by the International Extranodal Lymphoma Study Group from 12 institutions in 7 different countries over a 25-year period fulfilled the inclusion criteria. These cases comprised 4 follicular lymphomas (FLs), 15 diffuse large B-cell lymphomas (DLBCLs), and 2 peripheral T-cell lymphomas, not otherwise specified. The FL cases showed paratrabecular infiltration, BCL2 protein and CD10 expression, and BCL2 gene rearrangement. DLBCL showed nodular infiltration in 6 cases and was diffuse in 9 cases; it also showed positivity for BCL2 protein (9/10) and IRF4 (6/8). Median age was 65 years with male predominance. All but 3 FL patients were symptomatic. Most cases presented with cytopenias and high lactate dehydrogenase. Four patients (3 FL cases and 1 DLBCL case) had leukemic involvement. Most DLBCL patients received CHOP-like or R-CHOP-like regimens. The outcome was unfavorable, with a median overall survival of 1.8 years. In conclusion, PBML is a very uncommon lymphoma with particular clinical features and heterogenous histology. Its recognition is important to establish accurate diagnosis and adequate therapy.

  7. 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

  8. An uncommon cause of abdominal pain: Mesenteric cyst

    PubMed Central

    Ünlüer, Erden Erol; Ünlüer, Seran; Şahı̇n, Yusuf; Kamer, Kemal Erdı̇nç; Karagöz, Arı̇f; Tan, Gözde Canan

    2016-01-01

    Mesenteric cysts are benign cystic lesions. Here, we present the case of a patient with abdominal pain, which was diagnosed as mesenteric cyst. A 28-year-old male patient was admitted to the emergency department (ED) with abdominal pain and distention. Abdominal palpation revealed a smooth-surfaced mass palpable in the left upper quadrant. Ultrasonography depicted a hypoechoic heterogeneous mass-like structure with a size of 15 × 12 cm. Computerized tomography (CT) showed a well-defined cystic structure with a size of 12 × 12.5 cm near to the duodenum and pancreas. The patient was admitted, and the cystic structure was drained with a percutaneous drainage catheter; then, sclerotherapy was performed using ethyl alcohol with the aid of ultrasonography. The material was sent to the pathology lab and revealed negative results for malignant cell and mucin. The patient underwent a control CT with contrast, which revealed the catheter at the site of the operation and no cystic lesion after procedure. He was discharged 1 week after the procedure. Mesenteric cysts are extremely rare benign lesions of the abdomen, and emergency physicians must consider this disease in the differential diagnosis of abdominal pain. The percutaneous drainage technique performed on our patient is a safe technique for the treatment of selected patients. PMID:28250978

  9. 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. PMID:27651943

  10. 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

  11. Nonrheumatic myopericarditis post acute streptococcal pharyngitis: An uncommon cause of sore throat with ST segment elevation.

    PubMed

    Pourmand, Ali; Gelman, Daniel; Davis, Steven; Shokoohi, Hamid

    2016-12-08

    Nonrheumatic myopericarditis is an uncommon complication of acute pharyngitis caused by Group A Streptococcal infection (GAS). While the natural history of carditis complicating acute rheumatic fever is well established, the incidence, pathophysiology and clinical course of nonrheumatic myopericarditis are ill defined. Advances in rapid bedside testing for both myocardial injury and GAS pharyngitis have allowed for increasing recognition of this uncommon complication in patients presenting with a sore throat with associated chest discomfort. We describe a case of a 34years old man with GAS pharyngitis complicated by acute myopericarditis who presented with chest pain, ST segment elevation on electrocardiogram, and elevated cardiac biomarkers.

  12. Small bowel obstruction in the emergency department: MDCT features of common and uncommon causes.

    PubMed

    Tirumani, Harika; Vassa, Ravi; Fasih, Najla; Ojili, Vijayanadh

    2014-01-01

    Small bowel obstruction is a common condition encountered by the radiologist in the emergency department. Though intestinal adhesions and obstructed hernias are the most common causes of acute small bowel obstruction, a variety of uncommon and rare conditions can cause acute and subacute bowel obstruction. Imaging plays a key role in the workup of bowel obstruction by identifying the cause, level, and degree of bowel obstruction. In this article, we present a comprehensive review of the multi-detector computed tomography features of common and uncommon causes of acute and subacute small bowel obstruction.

  13. Trichosporon inkin Esophagitis: An Uncommon Disease in a Patient with Pulmonary Cancer.

    PubMed

    Macêdo, Danielle Patrícia Cerqueira; de Oliveira, Neiva Tinti; da Silva, Vanessa Karina Alves; de Almeida Farias, Aline Mary; de Lima Neto, Reginaldo Gonçalves; Wilheim, Ana Botler; de Oliveira, Patrícia Cariolano; Pedi, Nadyr; de Andrade, Suanni Lemos; Neves, Rejane Pereira

    2011-04-01

    Trichosporon species are usually opportunistic pathogens. Here, we present a case of esophagitis caused by T. inkin in a 54-year-old woman with pulmonary cancer and severe neutropenia in whom the susceptibility profile of the isolate against azoles and polyenes was verified. The patient was diagnosed with esophagitis grade I of Wilcox, presenting scattered whitish plaques and exudates in upper two-thirds of the esophageal mucosa. Antifungal therapy involving oral fluconazole (150 mg/day for 14 days) was ineffective. In vitro, the isolate showed no resistance to this azole and sensitivity to amphotericin B. Since T. inkin is of growing importance as an agent of invasive infections in immunocompromised patients, we stress that the diagnosis of esophagitis by this species should be followed by an assessment of the therapeutic sensitivity of the strain involved.

  14. Uncommon presentation of a common disease - Bouveret's syndrome: A case report and systematic literature review

    PubMed Central

    AL-Habbal, Yahya; Ng, Matthew; Bird, David; McQuillan, Trevor; AL-Khaffaf, Haytham

    2017-01-01

    AIM To investigate and summarise the current evidence surrounding management of Bouveret’s syndrome (BS). METHODS A MEDLINE search was performed for the BS. The search was conducted independently by two clinicians (Yahya AL-Habbal and Matthew Ng) in April 2016. A case of BS is also described. RESULTS A total of 315 articles, published from 1967 to 2016, were found. For a clinically meaningful clinical review, articles published before 01/01/1990 and were excluded, leaving 235 unique articles to review. Twenty-seven articles were not available (neither by direct communication nor through inter-library transfer). These were also excluded. The final number of articles reviewed was 208. There were 161 case reports, 13 reviews, 23 images (radiological and clinical images), and 11 letters to editor. Female to male ratio was 1.82. Mean age was 74 years. Treatment modalities included laparotomy in the majority of cases, laparoscopic surgery, endoscopic surgery and shockwave lithotripsy. CONCLUSION There is limited evidence in the literature about the appropriate approach. We suggest an algorithm for management of BS. PMID:28138366

  15. 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…

  16. Acute Generalized Exanthematous Pustulosis: An Uncommon Cause of Fever and Rash.

    PubMed

    Gordon, Jeffrey

    2016-03-01

    Fever and rash are common presenting complaints to the Emergency Department. This report documents an uncommon diagnosis involving this presentation. The patient presented with signs and symptoms consistent with severe sepsis. Once the diagnosis of Acute Generalized Exanthematous Pustulosis was recognized, the outcome was favorable.

  17. Uncommon acute neurologic presentation of canine distemper in 4 adult dogs

    PubMed Central

    Galán, Alba; Gamito, Araceli; Carletti, Beatrice E.; Guisado, Alicia; de las Mulas, Juana Martín; Pérez, José; Martín, Eva M.

    2014-01-01

    Four uncommon cases of canine distemper (CD) were diagnosed in vaccinated adult dogs. All dogs had acute onset of neurologic signs, including seizures, abnormal mentation, ataxia, and proprioceptive deficits. Polymerase chain reaction for CD virus was positive on cerebrospinal fluid in 2 cases. Due to rapid deterioration the dogs were euthanized and CD was confirmed by postmortem examination. PMID:24688139

  18. 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…

  19. Languages of Eastern 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 Eastern 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…

  20. Spontaneous tooth exfoliation after trigeminal herpes zoster: a case series of an uncommon complication.

    PubMed

    Mahajan, Vikram K; Ranjan, Nitin; Sharma, Sangeet; Sharma, Nand Lal

    2013-05-01

    The most significant and debilitating complication of herpes zoster (HZ) is herpetic neuralgia that accompanies and may persist in 10-15% of all zoster patients, particularly those over 60 years of age. The described 3 cases had an uncommon complication of spontaneous tooth exfoliation after trigeminal HZ that rarely finds mention in dermatology literature.

  1. Uncommon acute neurologic presentation of canine distemper in 4 adult dogs.

    PubMed

    Galán, Alba; Gamito, Araceli; Carletti, Beatrice E; Guisado, Alicia; de las Mulas, Juana Martín; Pérez, José; Martín, Eva M

    2014-04-01

    Four uncommon cases of canine distemper (CD) were diagnosed in vaccinated adult dogs. All dogs had acute onset of neurologic signs, including seizures, abnormal mentation, ataxia, and proprioceptive deficits. Polymerase chain reaction for CD virus was positive on cerebrospinal fluid in 2 cases. Due to rapid deterioration the dogs were euthanized and CD was confirmed by postmortem examination.

  2. Labio-Patalization in Twi: Contrastive, Quantal, and Organizational Factors Producing an Uncommon Sound.

    ERIC Educational Resources Information Center

    de Jong, Kenneth; Obeng, Samuel Gyasi

    2000-01-01

    Proposes that the typologically uncommon combination of labial and palatal constriction in Twi has arisen from a convergence created by general patterns of coarticulation of consonants and vowels. This convergence has been systematized in a consonantal acoustic dimension partially independent from the original vocalic dimensions of contrast for…

  3. An Uncommon Case of Lower Limb Deep Vein Thrombosis with Multiple Etiological Causes

    PubMed Central

    Miao, Jing; Naik, Geetha; Muddana, Sivakumar; Li, Xiaohuan; Bhimasani, Supriya; Mitchell, Ronald Alvin; Alaie, Dariush; Petrillo, Richard L.

    2017-01-01

    Patient: Female, 43 Final Diagnosis: Deep vein thrombosis Symptoms: 2-week pain and swelling in the right leg Medication: Enoxaparin • Warfarin Clinical Procedure: None Specialty: Hematology Objective: Rare disease Background: Deep vein thrombosis (DVT) is a type of venous thromboembolism with diverse clinical and environmental risk factors. Very few cases of DVT with multiple high risk factors have been reported. Here, we report an uncommon DVT case with multiple etiological causes, including appendicitis/appendectomy, morbid obesity, immobilization, positive phosphatidylserine IgG, and heterozygous factor V Leiden mutation. Case Report: A 43-year-old female was brought to the emergency room because of 2-week history of pain and swelling and ultrasound revealing evidence of DVT in the right leg. One month ago, she underwent an exploratory laparotomy because of subacute appendicitis. After surgery, the patient stayed at home in bed with very limited activity. She did not have a cough, hemoptysis, chest pain, or shortness of breath. She was morbidly obese, and had a past medical history of diabetes, hypertension, and hyperlipidemia. A full coagulation workup was completed, including Protein C, Protein S, and antiphospholipid antibody, as well as factor V and prothrombin gene mutation screen. Her D-dimer was positive. Computed tomography (CT) angiography of the lungs ruled out major emboli but was unable to rule out minor emboli. A heterozygous factor V Leiden R506Q mutation was detected. Of interest was a significantly positive phosphatidylserine IgG with a value of over 42. She was started with enoxaparin (120 mg, twice a day), and warfarin was added on day 2 when pulmonary embolism was ruled out by CT angiography. The International Normalized Ratio (INR) was monitored daily to adjust warfarin dose. Conclusions: Multiple etiological factors present in this patient may have contributed to her lower-limb DVT, including appendicitis/appendectomy, morbid obesity

  4. Heck's disease: diagnosis and susceptibility.

    PubMed

    Bennett, Lindsey K; Hinshaw, Molly

    2009-01-01

    Focal epithelial hyperplasia, or Heck's disease, is an uncommon proliferation of oral mucosa that presents primarily in Native Central and South American populations. It presents as asymptomatic papules or nodules on the oral mucosa, gingiva, tongue, and lips. In the majority of cases, human papilloma virus 13 or 32 is detected. Factors that determine disease susceptibility are unclear, but genetics, and having the human lymphocytic antigen-DR4 (DRB1*0404) allele in particular, are thought to play a major role in disease vulnerability. We report another case of focal epithelial hyperplasia, hypothesize on disease susceptibility, and review the current understanding of this uncommon disorder.

  5. 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

  6. Aortitis due to giant cell arteritis and psoriatic arthritis: An uncommon association.

    PubMed

    García-Cezón de la Cruz, M Del Pilar; Almodóvar, Raquel; García Pérez, Javier; Dhimes, Patricia Fanny; Zarco, Pedro

    2016-04-27

    We report the case of a 65-year-old woman with psoriatic arthritis who developed aortitis secondary to giant cell arteritis. She presented with a 2-mounth history of dry cough, fever and fatigue. There was no evidence of tumor or infectious processes. Abdominal computed tomographic and computed tomography coronary angiographic findings were suggestive of aortitis. Histological study of a temporal artery biopsy confirmed temporal arteritis. We also review the available literature on this uncommon condition.

  7. Common and uncommon adult unilateral renal masses other than renal cell carcinoma

    PubMed Central

    Le, Ott; Roy, Anjali; Silverman, Paul M.; Kundra, Vikas

    2012-01-01

    Abstract Many different masses can involve the kidney other than the commonly encountered renal cell carcinoma (RCC). The purpose of this article is to review the characteristic clinical and imaging findings of common and uncommon masses that predominantly present unilaterally in the adult patient, other than RCC. Awareness of such lesions and knowing the clinical scenario is important for appropriate diagnosis and management, especially in a multidisciplinary care setting. PMID:22752221

  8. Traumatic pseudolipoma causing facial asymmetry: An uncommon pathology and review of its pathogenesis

    PubMed Central

    Sah, Kunal; Chandra, Sunira; Kale, Alka; Awasthi, Seema; Rastogi, Priyanka

    2011-01-01

    We present an uncommon case of traumatic pseudolipoma in a 24-year-old female, causing facial asymmetry. Literature review suggests trauma as a possible etiology for its pathogenesis, which was present in this case. Microscopically, sometimes it is difficult to differentiate between normal adipose tissue and lipoma. Clinician must provide accurate clinical information in order to make a definitive diagnosis of traumatic pseudolipoma. Its pathogenesis has also been highlighted in this article. PMID:21731292

  9. Nasal Carriage of Uncommon Coagulase-Negative Staphylococci in Nurses and Physicians of Tehran University Hospitals.

    PubMed

    Salimi, Elaheh; Pakbaz, Zahra; Pourmand, Mohammad Reza; Avakh Majelan, Payman; Dehbashi, Sanaz

    2016-05-01

    Coagulase-negative staphylococci (CoNS) have been identified as a major cause of nosocomial infections. Nasal carriage of CoNS in nurses and physicians is known to be an important risk factor for potential hospital infections. This study was carried out to investigate the prevalence of nasal carriage of uncommon coagulase-negative staphylococci among nurse and physician staffs of Tehran University Hospitals. A total of 116 CoNS were isolated from anterior nares of the study participants working in different wards of the hospitals. Thirteen uncommon CoNS were identified using phenotypic and biochemical methods, were subsequently confirmed by API kits. Staphylococcus xylosus, Staphylococcus haemolyticus, and Staphylococcus capitis species accounted for 53.85%, 30.77%, and 15.38% from the isolates, respectively. Six isolates (46.15%) were found to be resistant to methicillin. In conclusion, screening of healthcare workers for uncommon CoNS colonization along with identification and testing for susceptibility of cultured isolates is of paramount importance in strengthening effective nosocomial infection control and prevention measures.

  10. 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

  11. 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.

  12. Uncommon primary hydatid cyst occupying the adrenal gland space, treated with laparoscopic surgical approach in an old patient

    PubMed Central

    Aprea, Giovanni; Aloia, Sergio; Quarto, Gennaro; Furino, Ermenegildo; Amato, Maurizio; Bianco, Tommaso; Di Domenico, Lorenza; Maurea, Simone; Sivero, Luigi

    2016-01-01

    Abstract Hydatid disease (HD) is caused by Echinococcus Granulosus (EG), which is a larva endemic in many undeveloped areas. The most common target is the liver (59%–75%). The retroperitoneal space is considered as a rare localization. We report an uncommon case of HD located in the adrenal gland space. Presentation of case. This is a 78-year-old Moroccan woman, with right flank pain for eight months previously. She denied contact with dogs or sheep. Her physical examination was normal. There was no pathological alteration of laboratory exams. CT scan measuring 5 cm without clear signs for a sure diagnosis found a round lesion in the right adrenal gland. An abdominal MRI showed a round mass of 34 x 27 mm with fluid component without a clear plane of dissection from kidney and liver. A laparoscopic procedure was performed to obtain a histological diagnosis. We reached a conclusive diagnosis of Hydatid cyst of right adrenal gland space. Hydatid cysts often develop in the liver. The location in the adrenal bed is rare without clinical signs related to alteration of the gland’s secretion. Hydatid cyst identification in the adrenal gland space is based on ultrasonography, CT or MRI scans. The differential diagnosis includes various benign and malignant lesions. Laparoscopic procedure is the best approach available to obtain a histological diagnosis and a curative treatment. The best treatment for HD is the pericystectomy. Laparoscopic surgery can guarantee a radical resection of these lesions when it performed by an expert surgeon.

  13. Adenosine-sensitive wide-complex tachycardia: an uncommon variant of idiopathic fascicular ventricular tachycardia--a case report.

    PubMed

    Kassotis, John; Slesinger, Todd; Festic, Emir; Voigt, Louis; Reddy, C V R

    2003-01-01

    Most wide-complex tachycardias encountered in the emergency department (ED) are ventricular in origin, most commonly associated with structural heart disease. Ventricular tachyarrhythmias range in severity from life-threatening rhythms (eg, ventricular fibrillation and hemodynamically compromising ventricular tachycardia [VT]) to idiopathic forms of VT, which have a benign clinical course and a more favorable prognosis. The authors present the case of a 34-year-old woman who presented to the ED, with a wide-complex tachycardia with a right-bundle-branch block (RBBB) morphology and a right inferior axis, which was terminated with adenosine. The patient was previously misdiagnosed as suffering from a paroxysmal supraventricular tachycardia (SVT), which was unresponsive to beta-blocker therapy. Although the tachycardia responded to adenosine, suggestive of an SVT, the patient was referred to the arrhythmia service, where further work-up revealed an uncommon form of an idiopathic VT, originating from the left anterior fascicle. The authors discuss the unique electrocardiographic and electrophysiologic properties and useful diagnostic maneuvers required to properly identify this form of VT.

  14. 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

  15. Intraoral Neurinoma of the Lingual Nerve: An Uncommon Tumor in Floor of the Mouth

    PubMed Central

    Kumar kuppusamy, Santhosh; Ramkumar, Subramaniyam; Narasimhan, Malathi; Azariah Dhiravia Sargunam, Emmanuel

    2014-01-01

    Neurinoma or schwannoma is an uncommon benign tumor that arises primarily from the nerve sheath of Schwann cells. About 25% has been reported in head and neck region extracranially, but only 1% in the intraoral origin. Intraorally, the tongue is the most common site followed by the palate, floor of the mouth, lips and buccal mucosa. In review of literature, intraoral schwannoma of the lingual nerve origin has not been reported frequently. So, we present a case of intraoral neurinoma of the lingual nerve. PMID:24639903

  16. 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.

  17. An uncommon case of severe accidental hypothermia in an urban setting

    PubMed Central

    Meytes, Vadim; Schulberg, Steven P.; Amaturo, Michael; Kilaru, Mohan

    2015-01-01

    Accidental hypothermia is an uncommon presentation in urban settings. Here we present a patient admitted with a core temperature of 26.6°C (80°F) and a serum potassium of 8.5 mmol/l who subsequently went into cardiac arrest. After > 90 min of active cardiopulmonary resuscitation and peak serum potassium of >12 mmol/l, the patient had a spontaneous return of circulation. The patient's hospital course was complicated by compartment syndrome of his forearm; however, he was discharged home without any lasting neurological damage. PMID:26664726

  18. Adder bite: an uncommon cause of compartment syndrome in northern hemisphere

    PubMed Central

    2010-01-01

    Snakebite envenomation is an uncommon condition in the northern hemisphere, but requires high vigilance with regard to both the systemic effects of the venom and the locoregional impact on the soft tissues. Bites from the adder, Vipera Berus, may have serious clinical consequences due to systemic effects. A case of a 44-year-old man is reported. The patient was bitten in the right hand. He developed fasciotomy-requiring compartment syndrome of the upper limb. Recognition of this most seldom complication of an adder bite is vital to save the limb. We recommend that the classical signs and symptoms of compartment syndrome serve as indication for surgical decompression. PMID:20854675

  19. Orbital Myiasis with Scalp Pediculosis and Buccal Abscess–An Uncommon Presentation

    PubMed Central

    Kaushik, Rajeev Mohan; Rajput, Richa; Dhasmana, Renu; Bhargava, Anurag

    2017-01-01

    We present a case of severe orbital myiasis caused by Osteris ovis, also known as sheep nasal botfly which is an uncommon manifestation of maggot infestation. Our patient was successfully treated with oral as well as topical ivermectin. The experience of ivermectin as an anti-parasitic agent in the treatment of orbital myiasis, although a known entity, is still limited among medical professionals including ophthalmologists. Thus, we would like to highlight the role of oral ivermectin as an anti-parasitic agent in the treatment of orbital myiasis facilitating the removal of maggots; thus, precluding the need for exploratory surgery. PMID:28384914

  20. Primary cutaneous mucormycosis presenting as a giant plaque: uncommon presentation of a rare mycosis.

    PubMed

    Vinay, Keshavamurthy; Chandrasegaran, Ariganesh; Kanwar, Amrinder J; Saikia, Uma N; Kaur, Harsimran; Shivaprakash, M R; Dogra, Sunil

    2014-08-01

    Mucormycosis is an uncommon systemic mycosis affecting the immunocompromised individuals. It is usually caused by organisms of the genera Rhizopus and Mucor, although rarely other organisms have also been implicated. Mycoses due to these angioinvasive fungi have an acute onset, rapidly progressive course with high mortality rate. A rare and less well known is the chronic subtype of primary cutaneous mucormycosis (PCM). Herein, we report a case of PCM clinically presenting as a chronic, giant destructive plaque in a young immunocompetent male and coin the term chronic granulomatous mucormycosis. A clinicopathological classification for cutaneous mucormycosis is also proposed.

  1. A case of Bloom syndrome with uncommon clinical manifestations confirmed on genetic testing.

    PubMed

    Jian-Bing, Wu; Cheng-Rang, Li; Yi-Ping, Ma; Nan, Sheng; Hui, Li; Lin, Lin

    2016-02-01

    Bloom syndrome, a rare autosomal-recessive disorder, characteristically presents with photosensitivity, telangiectatic facial erythema, and growth deficiency. We present a case of Bloom syndrome with uncommon clinical manifestations including alopecia areata, eyebrow hair loss, flat nose, reticular pigmentation, and short sharpened distal phalanges with fingernails that were wider than they were long. We detected the Bloom syndrome gene, BLM, which is one of the members of the RecQ family of DNA helicases, and found changes in 2 heterozygous nucleotide sites in the patient as well as her father and mother.

  2. 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

  3. Folliculitis spinulosa decalvans: an uncommon entity within the keratosis pilaris atrophicans spectrum.

    PubMed

    Di Lernia, Vito; Ricci, Cinzia

    2006-01-01

    Folliculitis spinulosa decalvans is an uncommon condition characterized by follicular hyperkeratosis, followed by scarring alopecia. We report a 12-year-old boy affected by keratotic papules of the scalp and keratosis pilaris of the limbs who developed erythema, pustules, and scale crusts on the scalp associated with scarring alopecia. Histologic examination showed follicular and interfollicular hyperkeratosis, follicular plugging, mild inflammation, and focal scarring. A transient remission of the inflammatory changes on the scalp was obtained after treatment with isotretinoin. The follicular spinulous hyperkeratosis persisted. A severe relapse of the scalp inflammation was observed during a 2-year follow-up.

  4. Small cell carcinoma of the prostate presenting with Cushing Syndrome. A narrative review of an uncommon condition.

    PubMed

    Rueda-Camino, José Antonio; Losada-Vila, Beatriz; De Ancos-Aracil, Cristina Lucía; Rodríguez-Lajusticia, Laura; Tardío, Juan Carlos; Zapatero-Gaviria, Antonio

    2016-01-01

    Small cell carcinoma (SCC) of the prostate is an uncommon condition; there are very few cases in which presenting symptoms are consistent with Cushing Syndrome (CS). We report a new case in which CS triggers the suspicion of an SCC of the prostate and a review of the published cases of SCC of the prostate presenting with CS. The origin of these neoplasms is still unclear. It may be suspected when laboratory features appear in patients diagnosed with prostatic adenocarcinoma which becomes resistant to specific therapy. SCC usually occurs after the 6th decade. Patients suffering SCC of the prostate presenting with CS usually present symptoms such as hypertension, hyperglycemia, alkalosis or hypokalemia; cushingoid phenotype is less frequent. Cortisol and ACTH levels are often high. Prostatic-specific antigen levels are usually normal. CT scan is the preferred imaging test to localize the lesion, but its performance may be improved by adding other tests, such as FDG-PET scan. All patients have metastatic disease at the time of diagnosis. Lymph nodes, liver and bone are the most frequent metastases sites. Surgery and Ketokonazole are the preferred treatments for CS. The prognosis is very poor: 2- and 5-year survival rates are 27.5 and 14.3%, respectively. Key messages When a patient presents with ectopic Cushing Syndrome but lungs are normal, an atypical localization should be suspected. We should suspect a prostatic origin if Cushing Syndrome is accompanied by obstructive inferior urinary tract symptoms or in the setting of a prostatic adenocarcinoma with rapid clinical and radiological progression with relatively low PSA levels. Although no imaging test is preferred to localize these tumors, FDG-PET-TC can be very useful. Hormone marker scintigraphy (e.g. somatostatin) could be used too. As Cushing Syndrome is a paraneoplastic phenomenon, treatment of the underlying disease may help control hypercortisolism manifestations. These tumors are usually metastatic by the

  5. Bowel Ischemia from Heat Stroke: A Rare Presentation of an Uncommon Complication

    PubMed Central

    Sharma, Anuj; Syed, Wajihuddin; Manocha, Divey

    2016-01-01

    A healthy 27-year-old female presented to the hospital after she collapsed an hour into her first marathon run on a hot humid day. On presentation, she was hyperthermic, encephalopathic, tachycardic, and hypotensive. On admission, she was found to have lactic acidosis, rhabdomyolysis, and acute kidney injury and was treated with cold normal saline and cooling blankets. She subsequently started having abdominal pain and bloody bowel movements. Computed tomography of the abdomen revealed ascending colon thickening. Furthermore, her lab findings showed transaminitis and elevated coagulation parameters. Due to the acute hypotensive state from the heat stroke, patient had developed bowel ischemia, ischemic hepatitis, and disseminated intravascular coagulation, all of which are uncommon complications of heat stroke. She was managed aggressively with intravenous fluid hydration with resolution of her symptoms over the course of 4 days. In addition to the uncommon complications, early presentation of this bowel ischemia despite adequate hydration in such a healthy individual is another unique aspect of the case. PMID:27840645

  6. 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

  7. Clinical characteristics and response to tyrosine kinase inhibitors of patients with non-small cell lung cancer harboring uncommon epidermal growth factor receptor mutations

    PubMed Central

    Zhang, Yan; Wang, Zheng; Hao, Xuezhi; Hu, Xingsheng; Wang, Hongyu; Wang, Yan; Ying, Jianming

    2017-01-01

    Objective To investigate the clinical features of patients with non-small cell lung cancer (NSCLC) harboring uncommon epidermal growth factor receptor (EGFR) mutations, and the treatment outcomes of EGFR tyrosine kinase inhibitors (TKIs) in these patients. Methods We retrospectively analyzed the data of 128 NSCLC patients pathologically diagnosed with uncommon EGFR mutation in the Department of Pathology, National Cancer Center/Cancer Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College and Beijing Hospital from January 2010 to December 2015, including 40 advanced patients who received EGFR-TKI. Results Among the total 128 patients, 11 patients were non-adenocarcinoma, including squamous carcinoma (3.9%), adenosquamous carcinoma (2.3%), large cell carcinoma (0.8%), and composite neuroendocrine carcinoma (1.6%). Single mutations accounted for 75.0% (96/128), including G719X (29.7%), S768I (18.0%), 20 exon insertion (13.3%), L861Q (12.5%),De novo T790M (0.8%), and T725 (0.8%). Thirty-two patients harbored complex mutations. Forty advanced patients received EGFR-TKI, the objective response rate (ORR) was 20.0%, the disease control rate (DCR) was 85.0%, and the progression-free survival (PFS) was 6.4 [95% confidence interval (95% CI), 4.8–7.9] months. The exploratory analysis of tumor response and PFS in 33 patients with G719X/S768I/L861Q subtypes showed that ORR was 21.2% (7/33), the DCR was 93.9% (31/33), and PFS was 7.6 (95% CI, 5.8–9.4) months. Patients with exon 20 insertion mutation andDe novo T790M experienced rapid disease progression with PFS no more than 2.7 months. Conclusions Uncommon EGFR-mutant NSCLCs are heterogeneous, EGFR-TKIs can have different efficacy in this specific subtype, and thus further individual assessment is required for each case. PMID:28373750

  8. 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

  9. Structure of capsule around acanthocephalan Corynosoma strumosum from uncommon paratenic hosts-lizards of two species.

    PubMed

    Skorobrechova, Ekaterina M; Nikishin, Vladimir P; Lisitsyna, Olga I

    2012-01-01

    Micromorphology and ultrastructure of capsule forming around acanthocephalan Corynosoma strumosum in uncommon paratenic hosts-lizards Lacerta agilis and Lacerta viridis-have been studied. Experimental infestation of the lizards by acanthocephalans obtained from naturally infested sea fishes showed that only small amount of parasites occurred in the intestine of the host was able to migrate into body cavity and to be encapsulated. Micromorphology of capsules of different ages from different species of lizards and micromorphology and ultrastructure of capsules at the age of 1.5 and 10 days appeared to be similar. In the capsule's structure cells of inflammatory rank were prevailing: mononuclear and multinuclear macrophages, eosinophils, and basophils. Fibroblasts were not numerous and were located only in the outer part of a capsule; exocellular collagen fibers were absent. Inflammatory character of capsule confirms the idea that lizards are unsuitable paratenic hosts for corynosomes.

  10. 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.

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

    PubMed Central

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

    2012-01-01

    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) cm3 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

  12. Structural elucidation of an uncommon phenylethylamine analogue in urine responsible for discordant amphetamine immunoassay results.

    PubMed

    Marson, C; Schneider, S; Meys, F; Wennig, R

    2000-01-01

    The present paper describes investigations following the analysis of a urine specimen containing important amounts of an unknown substance detected by gas chromatography-mass spectrometry (GC-MS) analysis. FPIA analysis was positive (cutoff 0.3 mg/L) and Triage 8 rapid test was negative (cutoff 1 mg/L) for amphetamines. Considering the GC-MS spectrum, two different molecules, for example, N-ethyl-1-(3,4-methylenedioxyphenyl)ethylamine (1) or N-ethyl-4-methoxyamphetamine (2), have been suspected. Synthesis of these two compounds was carried out together with spectral (MS, 1H and 13C NMR, IR, UV) and chromatographic (GC) characterization as well as determination of immunological cross reactivities (FPIA and Triage 8). The unknown compound present in the urine specimen has been finally identified as N-ethyl-4-methoxyamphetamine (2), an uncommon amphetamine analogue.

  13. Identifying and treating common and uncommon infections in the patient with diabetes.

    PubMed

    Garrison, M W; Campbell, R K

    1993-01-01

    Patients with diabetes represent a unique group of individuals who appear more prone than others to developing infections. Several mechanisms have been proposed to explain the association between diabetes and infections. However, few conclusive studies exist and considerable debate continues regarding evidence for this predisposition. Despite this lack of documented proof, many health care practitioners acknowledge that a number of infections are overrepresented in patients with diabetes. Some of these infections appear to occur exclusively in patients with diabetes, especially patients who are poorly controlled. The presenting clinical features, causative organisms, and preferred treatment approaches will be discussed in this article for a variety of common and uncommon infections observed in patients with diabetes. In addition, the proposed predisposing factors will be addressed briefly.

  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.

  15. New and Uncommon Fatty Acids in Lipids of Deep-Sea Foraminifera.

    PubMed

    Kharlamenko, Vladimir I; Svetashev, Vasily I; Tarasova, Tatyana S

    2017-04-01

    Fatty acids (FA) of agglutinating foraminifera of two genera, Bathysiphon and Rhabdammina, collected from a depth of 3307-3377 m in the Kuril Basin, Sea of Okhotsk, and adjacent deep-sea waters of the Pacific Ocean, were analyzed. In lipids of two Bathysiphon species, in addition to common FA typical for marine organisms, the uncommon ∆4 and ∆7 monoenoic acids and ∆4,7-dienoic acid were found in noticeable amounts. FA of two Rhabdammina species included also such uncommon acids as ∆5,8,11,14-21:4, ∆5,8,11,14-22:4, and ∆5,8,11,14-23:4, which are homologues to arachidonic acid. High levels of cis-vaccenic and arachidonic acids were typical for lipids of all the studied species. At the same time, we observed a substantial difference in FA composition between members of these two genera. Using GC and GC-MS of FAME, pyrrolidide and DMOX derivatives, the structures of 10 new FA were confirmed: ∆4-i-16:1 (1.1-0.6%), ∆7-i-21:1 (0.4%), ∆7-ai-21:1 (0.3-0.8%), ∆4,11-18:2 (0.3-0.9%), ∆4,7-20:2 (8.8%), ∆7,12-20:2 (0.4-0.6%), ∆4,7-21:2 (0.6%), ∆7,12-22:2 (6.4-2.1%); ∆5,8,11,14-22:4 (1.2-2.0%), and ∆5,8,11,14-23:4 (1.7-2.3%). The origin of the new FA and the role of foraminifera FA in deep-sea communities are discussed.

  16. 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.

  17. Languages of the Middle East and North 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 the Middle East and North 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…

  18. 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…

  19. 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.

  20. 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

  1. 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.

  2. Intestinal metaplasia of appendiceal endometriosis is not uncommon and may mimic appendiceal mucinous neoplasm.

    PubMed

    Vyas, Monika; Wong, Serena; Zhang, Xuchen

    2017-01-01

    Endometriosis of the appendix can be an incidental finding or a cause of appendicitis, intussusception, perforation or retention mucocele. Intestinal metaplasia of appendiceal endometriosis may occur, which can lead to a misdiagnosis of low-grade appendiceal mucinous neoplasm. On a retrospective search of the pathology database from 2001 to 2015, we identified 78 appendiceal endometriosis cases and intestinal metaplasia was present in 10/78 (13%) cases. In most of the cases (90%), the foci of intestinal metaplasia were mainly localized close to the mucosa. Intestinal and endometrial hybrid glands were present in 9/10 (90%) cases. These cases were often associated with marked appendiceal distortion, luminal obliteration and mass formation, causing concern for a mucinous neoplasm clinically and pathologically. Our findings indicate that intestinal metaplasia in appendiceal endometriosis is not an uncommon phenomenon, which can be mistaken for a mucinous neoplasm. Endometriosis should be kept in mind when a diagnosis of appendiceal mucinous neoplasm is made, especially in a young woman with a clinical history of endometriosis.

  3. Spontaneous internal carotid artery dissection: an uncommon cause of recurrent postpartum headache.

    PubMed

    Stamboulis, Elefterios; Raptis, Georgios; Andrikopoulou, Athina; Arvaniti, Chrisa; Brountzos, Elias; Oikonomopoulos, Nikos; Stefanis, Leonidas; Voumvourakis, Konstantinos

    2011-01-01

    Postpartum spontaneous cervicocephalic artery dissection is an uncommon, poorly understood condition following pregnancy. We report a case of a 32-year-old woman with no history of trauma, chiropractic manipulation, connective tissue disorder, or previous headache who developed a mild, unilateral headache 7 days after the uneventful delivery of her third child (no general or neuraxial anesthesia was delivered). Seven days latter she presented to our emergency department complaining of recurrent episodes of right-sided headache coupled with a transient episode of sensory deficits in her left lower limb. Brain magnetic resonance imaging disclosed small infarctions in the internal watershed distribution of right internal carotid artery (ICA). Carotid artery dissection was diagnosed using DSA and T1 FAT-SAT sequences for the depiction of intramural hematoma. The patient was placed under oral anticoagulation and remained asymptomatic during a follow-up period of 6 months. The present case report highlights that cervicocephalic artery dissection is a condition that should be looked for in women with persisting or remitting unilateral headache following childbirth.

  4. 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.

  5. Radioactive iodine-refractory differentiated thyroid cancer: an uncommon but challenging situation.

    PubMed

    Schmidt, Angelica; Iglesias, Laura; Klain, Michele; Pitoia, Fabián; Schlumberger, Martin J

    2017-02-13

    Radioiodine (RAI)-refractory thyroid cancer is an uncommon entity, occurring with an estimated incidence of 4-5 cases/year/million people. RAI refractoriness is more frequent in older patients, in those with large metastases, in poorly differentiated thyroid cancer, and in those tumors with high 18-fluordeoxyglucose uptake on PET/CT. These patients have a 10-year survival rate of less than 10%. In recent years, new therapeutic agents with molecular targets have become available, with multikinase inhibitors (MKIs) being the most investigated drugs. Two of these compounds, sorafenib and lenvatinib, have shown significant objective response rates and have significantly improved the progression-free survival in the two largest published prospective trials on MKI use. However, no overall survival benefit has been achieved yet. This is probably related to the crossover that occurs in most patients who progress on placebo treatment to the open treatment of these studies. In consequence, the challenge is to correctly identify which patients will benefit from these treatments. It is also crucial to understand the appropriate timing to initiate MKI treatment and when to stop it. The purpose of this article is to define RAI refractoriness, to summarize which therapies are available for this condition, and to review how to select patients who are suitable for them.

  6. 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.

  7. 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.

  8. Uncommon Teaching in Commonsense Times: A Case Study of a Critical Multicultural Educator and the Academic Success of Diverse Student Populations

    ERIC Educational Resources Information Center

    Camp, Emilie M.; Oesterreich, Heather A.

    2010-01-01

    In an effort to explore the complexity of how teachers develop and sustain the ability to teach uncommonly in commonsense times, the authors conducted a life history case study of Rae, a fifth grade teacher at a local elementary school in the Southwest United States who has practiced and sustained uncommon teaching for four years. Combining…

  9. 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.

  10. 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.

  11. Renal allograft granulomatous interstitial nephritis: observations of an uncommon injury pattern in 22 transplant recipients

    PubMed Central

    Ellis, Carla L.; Rogers, Thomas E.; James Chon, W.; Chang, Anthony; Meehan, Shane M.

    2017-01-01

    Abstract Background: Granulomatous interstitial nephritis (GIN) is uncommon in native kidneys, and descriptions in allografts are few. We report clinical and pathologic findings in 22 allograft recipients with GIN identified in renal allograft biopsies and nephrectomies. Methods: Renal allografts with GIN were retrieved from the pathology files of two academic medical centers. Available clinical and pathologic data were compiled retrospectively for a 23-year period. Results: GIN was present in 23 specimens from 22 patients (15 males and 7 females) with allograft dysfunction [serum creatinine averaged 3.3 mg/dL (range 1.4–7.8)], at a mean age of 48 years (range 22–77). GIN was identified in 0.3% of biopsies at a mean of 552 days post transplantation (range 10–5898). GIN was due to viral (5), bacterial (5) and fungal (2) infections in 12 (54.5%), and drug exposure was the likely cause in 5 cases (22.7%). One had recurrent granulomatosis with polyangiitis. In 4 cases, no firm etiology of GIN was established. Of 18 patients with follow up data, 33.3% had a complete response to therapy, 44.5% had a partial response and 22.2% developed graft loss due to fungal and E. coli infections. All responders had graft survival for more than 1 year after diagnosis of GIN. Conclusions: Allograft GIN is associated with a spectrum of etiologic agents and was identified in 0.3% of biopsies. Graft failure occurred in 22% of this series, due to fungal and bacterial GIN; however, most had complete or partial dysfunction reversal and long–term graft survival after appropriate therapy.

  12. 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.

  13. Dumb-bell shaped poorly differentiated pelvic synovial sarcoma with molecular confirmation: a rare presentation of an uncommon disease entity.

    PubMed

    Hasan, Roumina; Kumar, Sandeep; Rao, Lakshmi

    2013-01-01

    Pelvic localization of synovial sarcoma is a rare phenomenon and to the best of our knowledge its presentation as a large "dumb-bell"-shaped abdomino-pelvic mass showing extension to the thigh has never been reported in the literature. We report a case of a young adult presenting with retention of urine and was found to have a large abdomino-pelvic mass causing bony destruction and compression of pelvic viscera. A biopsy revealed a cellular tumor composed of spindle to oval cells arranged in a hemangiopericytomatous pattern. Histopathology was suggestive of poorly differentiated synovial sarcoma. Immunohistochemistry (IHC) was positive for vimentin, CD 99, Bcl2, Mic2 and focally for EMA and negative for CD 34, CK, desmin, synaptophysin, and WT1. Due to equivocal IHC findings molecular analysis was done which confirmed the diagnosis as synovial sarcoma.

  14. 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.

  15. Denosumab and anti-angiogenetic drug-related osteonecrosis of the jaw: an uncommon but potentially severe disease.

    PubMed

    Sivolella, Stefano; Lumachi, Franco; Stellini, Edoardo; Favero, Lorenzo

    2013-05-01

    Osteonecrosis of the jaw (ONJ) is a rare but serious lesion of the jaw characterized by exposed necrotic bone and is related to several drugs usually used for treating patients with advanced malignancies. Common therapies inducing ONJ are nitrogen-containing bisphosphonates (BPs), the human monoclonal antibody to the receptor activator of nuclear factor-kappa B ligand denosumab and some anti-angiogenic drugs, alone or in combination with BPs. The real incidence of ONJ is unknown. Several cases of ONJ in patients with cancer who underwent denosumab therapy have been reported and it seems that the overall incidence of denosumab-related ONJ is similar to that for BP-related in this population, ranging between 1-2%. The cell-surface vascular endothelial growth factor (VEGF) receptor plays a major role in cancer progression and can be targeted by drugs inhibiting the tyrosine kinase activator or other second messengers. Most angiogenesis inhibitors, such as the monoclonal antibody bevacizumab and the kinase inhibitor sunitinib, target the VEGF signaling pathway. Unfortunately, cases of bevacizumab-induced ONJ have been reported, especially in patients treated with bevacizumab and BPs in combination. There are only few studies reporting sunitinib-related ONJs. In patients with advanced cancer and malignancy-associated hypercalcemia undergoing BP, denosumab or bevacizumab therapy, enquiry into current dental health and dental examination is mandatory. Good oral hygiene, limiting of alcohol intake and stopping smoking should be suggested for all patients requiring such treatments.

  16. 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.

  17. 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

  18. 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.

  19. 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

  20. FMR1 Premutation Is an Uncommon Explanation for Premature Ovarian Failure in Han Chinese

    PubMed Central

    Guo, Ting; Qin, Yingying; Jiao, Xue; Li, Guangyu; Simpson, Joe Leigh; Chen, Zi-Jiang

    2014-01-01

    Background In premature ovarian failure (POF), cessation of menstruation occurs before the expected age of menopause. Approximately 1% of women are affected. FMR1 premutation was reported to be responsible for up to 3.3%–6.7% of sporadic POF and 13% of familial cases in Caucasians, while the data was absent in Chinese population. Therefore, the impact of FMR1 CGG repeat on ovarian reserve is needed to be investigated in large Chinese cohort. Methods The number of FMR1 CGG repeat was determined in 379 Han Chinese women with well-defined 46, XX non-syndromic sporadic POF and 402 controls. The age of menopause onset in respect to CGG repeats was further analyzed. Results The frequency of FMR1 premutation in Han Chinese POF was only 0.5% (2/379), although it was higher than that in matched controls (0%, 0/402), it was much lower than that reported in Caucasian with POF (3.3%–6.7%). The prevalence of intermediate FMR1 (41–54) was not increased significantly in sporadic POF than that in controls (2.9% vs. 1.7%, P = 0.343). However, POF patients more often carried a single additional CGG repeat in a single allele than did fertile women (allele-1: 29.7 vs. 28.8, P<0.001; allele-2: 32.6 vs. 31.5, P<0.001). POF patients with both alleles of CGG repeats outside (below or above) the normal range (26–34) showed an earlier age of cessation of menses than those with two alleles within normal range (hom-high/high vs. norm: 20.4±4.8 vs. 24.7±6.4, p<0.01; hom-low/high vs. norm: 18.7±1.7 vs. 24.7±6.4, p<0.01). Conclusions FMR1 premutation seems to be an uncommon explanation for POF in Han Chinese. However, having both alleles with CGG repeats outside the normal range might still adversely affect ovarian aging. PMID:25050920

  1. Enteropathy Associated T Cell Lymphoma – A Case Report of An Uncommon Extranodal T Cell Lymphoma

    PubMed Central

    V, Geetha; Kudva, Ranjini

    2014-01-01

    Enteropathy associated T cell lymphoma is a rare primary intestinal lymphoma. It is often, but not always associated with celiac disease. Intraepithelial T cells are postulated as the cell of origin. It is a rare disease accounting for fewer than 5% of all gastrointestinal tract lymphomas. Recent studies indicate that EATL consists of two diseases that are morphologically and genetically distinct and differ with respect to their frequency of association with celiac disease. Current WHO classification recognises two subtypes of EATL – type 1 (classic) and type 2, based on morphology and immunophenotype. EATL type 1 is a large cell lymphoma which is more common and is more commonly associated with celiac disease compared to type 2. Most common site of involvement is the small intestine. We report a case of EATL type 1, in a 62-year-old female patient who presented with features of intestinal obstruction. However, she did not have spruce like featutes. PMID:25478355

  2. [Management of multivalvular heart disease].

    PubMed

    Sağ, Saim; Güllülü, Sümeyye

    2014-10-01

    Multivalvular heart valve disease is not an uncommon situation. Although many studies include only patients with regurgitation or stenosis involving only one heart valve, several scenarios in which patients present with regurgitation and/or stenosis involving two or more valves exist. Data on multivalve disease are scarce because of a large number of possible combinations and also owing to difficulties of exact quantification and an overlap in surgical indications. Therefore, many fields related to multiple valve disease are not encountered in the current valvular heart disease guidelines. This article aims to explain multi valvular heart disease from etiology and background definition to surgical outcome, with special emphasis on echocardiographic assessment.

  3. An uncommon cause of bifacial weakness and non-length-dependent demyelinating neuropathy

    PubMed Central

    Nagappa, Madhu; Taly, Arun B.; Mahadevan, Anita; Pooja, Mailankody; Bindu, Parayil Sankaran; Chickabasaviah, Yasha T.; Gayathri, Narayanappa; Sinha, Sanjib

    2015-01-01

    Tangier disease is a rare metabolic disorder that 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 diagnosed as leprosy and treated with antileprosy drugs. The presence of a demyelinating electrophysiology in a patient with predominant upper limb involvement and facial diplegia should raise the suspicion of Tangier disease. Estimation of serum lipids should form a part of routine evaluation in order to avoid misdiagnosis. PMID:26713019

  4. The “Pearls” of Multidisciplinary Team: Conquering the Uncommon Rosette Rash

    PubMed Central

    Pickles, Charles

    2016-01-01

    Linear IgA disease of childhood (LAD) also known as chronic bullous disease of childhood is an autoimmune disease with IgA deposition at the basement membrane zone leading to a vesiculobullous rash. It has a clinical appearance which frequently is described as resembling “strings of pearls” or rosette-like. Diagnosis is usually clinical but sometimes biopsy is required. Dapsone is widely considered to be the first line therapy in the treatment of LAD. A 5-year-old girl presented with 4-day history of a widespread painful rash and pyrexia. The rash transformed into painful blisters. A recent contact with chickenpox was present. She remained apyrexial but hemodynamically stable and was treated as chickenpox patient with secondary infection. Due to persistent symptoms after repeated attendance she was reviewed by Dermatology team and diagnosed with linear IgA disease also known as chronic bullous disease of childhood. This was based on the presence of blistering rash with rosette appearance and string of pearl lesions. The clinical features of LAD can be difficult to distinguish from more common skin infections. Benefiting from the experience of other multidisciplinary teams can sometimes be a game changer and can lead to the correct diagnosis and treatment. PMID:28070436

  5. Malignant Granular Cell Tumour Presenting as a Paravertebral Mass in an Adolescent Male- A Rare Presentation of an Uncommon Tumour

    PubMed Central

    Singh, Ajay Kr; Shubham, Swasti; Maan, Pratibha; Chauhan, Udit

    2017-01-01

    Granular Cell Tumour (GCT), also known as Abrikossoff’s tumour is a rare neural tumour, mostly benign and solitary but rare malignant and multifocal occurrence are also reported. Location of tumour varies widely within body with tongue, skin and subcutaneous tissue being the most common sites. We report a case of malignant GCT in a 17-year-old male presented with a paravertebral swelling. Radiological and histopathological findings along with immunohistochemistry were of malignant GCT. We emphasize this case for its uncommon age and site of presentation in addition to invasive nature.

  6. Kienbock's disease and juvenile idiopathic arthritis.

    PubMed

    Desy, Nicholas M; Bernstein, Mitchell; Harvey, Edward J; Hazel, Hazel

    2011-06-01

    Kienbock's disease or osteonecrosis of the lunate is an uncommon cause of wrist pain. . Though there have been several reports of cases in patients with various rheumatologic diseases, the precise etiology has currently not been established. We report a case of Kienbock's disease that occurred in a patient with juvenile idiopathic arthritis. To our knowledge, this is the first case report with an association between these two conditions.

  7. 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.

  8. 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

  9. 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

  10. [Uncommon acne-associated syndromes and their significance in understanding the pathogenesis of acne].

    PubMed

    Hong, J-B; Prucha, H; Melnik, B; Ziai, M; Ring, J; Chen, W

    2013-04-01

    Acne is an intriguing model for the study of interactions between hormones, innate immunity, inflammation and wound healing (scarring). The manifestations and involvement of acne in different systemic diseases and some rare syndromes demonstrate its multifaceted nature. Synovitis-Acne-Pustulosis-Hyperostosis-Osteitis (SAPHO) and Pyogenic Arthritis-Pyoderma gangrenosum-Acne (PAPA) syndromes, both regarded as autoinflammatory diseases, highlight the attributes of inflammation in acne. While SAPHO syndrome can be used to explore the pathogenic role of Propionibacterium acnes in acne, PAPA syndrome and Apert syndrome can help understand the genetic influence on acne. The genetic defects in the gain-of-function of FGFR2 mutations in Apert syndrome and acne nevus of Munro lend further support to the hypothesis that the interaction of forkhead box class O (FoxOs)-mediated transcriptional regulation with androgen receptor transactivation and insulin/insulin like growth factor-1(IGF-1)-signaling is crucial in acne pathogenesis. Novel biologics, such as tumor necrosis factor (TNF) blockers and IL-1 inhibitors, appear promising in opposing the inflammation associated with SAPHO and PAPA syndromes, but it remains to seen if they can also improve severe acne particularly in the long term.

  11. Edema, anemia, hypoproteinemia, and acrodermatitis enteropathica: an uncommon initial presentation of cystic fibrosis.

    PubMed

    Muñiz, Antonio E; Bartle, Sam; Foster, Robin

    2004-02-01

    Cystic fibrosis is a genetic disorder characterized by chronic obstructive pulmonary disease, pancreatic exocrine deficiency, and abnormally high sweat electrolyte concentrations. Less frequently, the presenting features in infants may include edema, anemia, hypoproteinemia, and acrodermatitis enteropathica. Liver involvement may produce hepatomegaly and mild elevation of transaminases. This clinical symptom usually presents within the first 6 months of life and is associated with a high morbidity and mortality. Early recognition and institution of appropriate nutritional supplementation and pancreatic enzymes is essential to improve outcome. Since the sweat test may be falsely negative, emergency physicians must maintain a high index of suspicion to make the diagnosis of cystic fibrosis in an infant who presents with edema, anemia, hypoproteinemia, and acrodermatitis enteropathica.

  12. 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

  13. Detection of Fasciola hepatica and Fasciola gigantica common and uncommon antigens, using rabbit hyper immune serum raised against their excretory-secretory and somatic antigens.

    PubMed

    Abdolahi Khabisi, S; Sarkari, B

    2016-12-01

    Fasciolosis is an important neglected helminth disease caused by two liver flukes, Fasciola hepatica and Fasciola gigantica. The two species of Fasciola are usually different in their morphological and molecular features. They have also common and uncommon antigens in both their somatic and excretory secretory metabolites. In this study, we compared somatic and excretory-secretory (ES) antigens of F. hepatica and F. gigantica, by using rabbit hyper immune serum raised against these antigens. Adult worms were collected from bile ducts of infected animals and species of the fluke was confirmed by RFLP-PCR. ES and somatic antigens of both species were prepared. Rabbits were subcutaneously immunized with either ES or somatic antigens to produce antibodies against these antigens. SDS-PAGE pattern of F. hepatica and F. gigantica somatic antigens was similar and both of them revealed 30 protein bands, ranging from 18 to 180 kDa. In contrast, SDS-PAGE pattern of ES antigen of the two species was different. While protein bands with molecular weight of 18, 27, 29, 48, and 62 kDa were common in both species, bands of 19, 45, 55 and 58 kDa were only noticed in F. hepatica ES antigen. Rabbit polyclonal antibodies, raised against F. hepatica and F. gigantica ES antigen, reacted with main five protein bands, 25, 27, 29, 62 and 67 kDa and polyclonal antibodies raised against somatic antigens of both species reacted with three protein bands, 25, 27 and 72 kDa. Thus, the 25, 27 and 29 kDa protein bands may serve as immunodominant antigens, which might be considered for serodiagnosis of fasciolosis. Moreover, bands of 62 and 67 kDa in ES antigen and 72 kDa in somatic antigens of both species were immunodominant and might be suitable candidate for development of serological assays for diagnosis of fasciolosis.

  14. MALDI-TOF: a useful tool for laboratory identification of uncommon glucose non-fermenting Gram-negative bacteria associated with cystic fibrosis.

    PubMed

    Homem de Mello de Souza, Helena Aguilar Peres; Dalla-Costa, Libera Maria; Vicenzi, Fernando José; Camargo de Souza, Dilair; Riedi, Carlos Antônio; Filho, Nelson Augusto Rosario; Pilonetto, Marcelo

    2014-09-01

    The predisposition of patients with cystic fibrosis (CF) for recurrent pulmonary infections can result in poor prognosis of the disease. Although the clinical significance in CF of micro-organisms, such as Staphylococcus aureus, Haemophilus influenzae and Pseudomonas aeruginosa, is well established, the implication of uncommon glucose non-fermenting Gram-negative bacilli (UGNF-GNB) in respiratory samples from CF patients is still unclear. Because of limitations of traditional methods used in most clinical laboratories, the accurate identification of these microbes is a challenge. Matrix-assisted laser desorption ionization-time of flight (MALDI-TOF) is an alternative tool for efficient identification of bacteria. This was a retrospective study to evaluate different identification methods in a collection of UGNF-GNB isolated from children with CF during a period of three years. The performance of MALDI-TOF was compared to that of 16S rDNA gene sequencing and to a conventional and automated phenotypic identification. The discriminatory power of MALDI-TOF (75.0 % agreement) was superior to automated techniques (67.1 % agreement) and to conventional phenotypical identification (50.0 % agreement). MALDI-TOF also demonstrated high accuracy in identifying Stenotrophomonas maltophilia, Achromobacter xylosoxidans and Chryseobacterium indologenes, but had limited utility in identifying Pandoraea spp. and some species of Acinetobacter and Chryseobacterium (other than C. indologenes). Although MALDI-TOF identified only 75 % of the isolates in comparison with 16S rDNA gene sequencing, the prompt identification and high discriminatory power exhibited by MALDI-TOF make it a useful tool for the characterization of micro-organisms that are difficult to identify using routine methods.

  15. 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.

  16. Giant condyloma of the cervix: an uncommon entity associated with low-risk human papilloma virus infection.

    PubMed

    Parra-Herran, Carlos; Herfs, Michael; Doria, Manuel; Crum, Christopher P; Nucci, Marisa R

    2013-02-01

    "Giant Condylomas" of the cervix are very uncommon, and have not been fully characterized in the English literature. We report 4 cases of cervical giant condyloma seen in our practice. Patients were predominantly young and presented with a cervical lesion producing bleeding or a mass effect. Biopsy/excision revealed a uniformly bland, exophytic squamous epithelial proliferation with viral cytopathic changes and absence of stromal invasion. Human papilloma virus types 6 and 11 were detected in all cases. Follow-up was uneventful without recurrence or spread. Giant condylomas of the cervix as defined in this report signify a benign albeit extensive variant of low-risk human papilloma virus infection. This term is proposed as a specific descriptor for such lesions and should be considered in the setting of any large well-differentiated exophytic cervical squamous lesion in young or immunosuppressed women. The term "giant condyloma of Buschke and Loewenstein" should be discontinued given the lack of specificity.

  17. 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

  18. 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

  19. Cutaneous myeloid sarcoma: natural history and biology of an uncommon manifestation of acute myeloid leukemia.

    PubMed

    Hurley, M Yadira; Ghahramani, Grant K; Frisch, Stephanie; Armbrecht, Eric S; Lind, Anne C; Nguyen, Tudung T; Hassan, Anjum; Kreisel, Friederike H; Frater, John L

    2013-05-01

    We conducted a retrospective study of patients with cutaneous myeloid sarcoma, from 2 tertiary care institutions. Eighty-three patients presented, with a mean age of 52 years. Diagnosis of myeloid sarcoma in the skin was difficult due to the low frequency of myeloperoxidase and/or CD34+ cases (56% and 19% of tested cases, respectively). Seventy-one of the 83 patients (86%) had ≥ 1 bone marrow biopsy. Twenty-eight (39%) had acute myeloid leukemia with monocytic differentiation. Twenty-three had other de novo acute myeloid leukemia subtypes. Thirteen patients had other myeloid neoplasms, of which 4 ultimately progressed to an acute myeloid leukemia. Seven had no bone marrow malignancy. Ninety-eight percent of the patients received chemotherapy, and approximately 89% died of causes related to their disease. Cutaneous myeloid sarcoma in most cases represents an aggressive manifestation of acute myeloid leukemia. Diagnosis can be challenging due to lack of myeloblast-associated antigen expression in many cases, and difficulty in distinguishing monocyte-lineage blasts from neoplastic and non-neoplastic mature monocytes.

  20. Headache in a Patient with Complex Congenital Heart Disease: Diagnostic and Therapeutic Considerations.

    PubMed

    Ahmad, Waheed; Miteff, Ferdi; Collins, Nicholas

    2015-11-01

    Headache in adult patients with congenital heart disease may be a manifestation of the underlying cardiac condition or more common alternative causes of headache. In patients with pre-existing congenital heart disease, consideration of potentially uncommon aetiologies of headache is important. We report an uncommon case of headache in a patient with complex congenital heart disease characterised by Ebstein's anomaly with previous surgical repair complicated by idiopathic intracranial hypertension. This case illustrates the importance of understanding the implications of headache with reference to the underlying cardiac disease as well as specific issues related to a relatively young cohort of patients.

  1. Management of renal disease in pregnancy.

    PubMed

    Podymow, Tiina; August, Phyllis; Akbari, Ayub

    2010-06-01

    Although renal disease in pregnancy is uncommon, it poses considerable risk to maternal and fetal health. This article discusses renal physiology and assessment of renal function in pregnancy and the effect of pregnancy on renal disease in patients with diabetes, lupus, chronic glomerulonephritis, polycystic kidney disease, and chronic pyelonephritis. Renal diseases occasionally present for the first time in pregnancy, and diagnoses of glomerulonephritis, acute tubular necrosis, hemolytic uremic syndrome, and acute fatty liver of pregnancy are described. Finally, therapy of end-stage renal disease in pregnancy, dialysis, and renal transplantation are reviewed.

  2. Cultural-Linguistic Aspects in Asian Language Teaching. Proceedings of the First Annual Meeting of the American Council of Teachers of Uncommonly-Taught Asian Languages.

    ERIC Educational Resources Information Center

    Dardjowidjojo, Soenjono, Comp.

    Problems encountered by teachers of uncommonly-taught Asian languages attempting to teach the culture of the native speakers of the target language are discussed in these articles: (1) "Cultural Context, Linguistic Categories, and Foreign Language Teaching: A Case from Marathi" by Vasant S. Khokle, (2) "The Ethnology of Communication and the…

  3. Kienbock's Disease in a Child.

    PubMed

    Shayesteh Azar, Masoud; Shahab Kowsarian, Seyed Ahmad; Mohseni-Bandpe, Mohammad Ali; Hadian, Atefeh

    2011-06-01

    Kienbock's disease, which is an idiopathic osteonecrosis and collapse of the lunate bone, is an uncommon disease in children. This report describes a case of an 11-year-old girl, who presented with avascular necrosis of lunate bone confirmed by radiographic and magnetic resonance imaging evidence. After a short period of casting, the case was fully recovered within one year. The signal change was confirmed by magnetic resonance imaging, and the deformity of lunate that was demonstrated by avascular necrosis. The patient wore a long arm cast for six weeks, and after one year radiographic pattern was normalized.

  4. Kienbock's Disease in a Child

    PubMed Central

    Shayesteh Azar, Masoud; Shahab Kowsarian, Seyed Ahmad; Mohseni-Bandpe, Mohammad Ali; Hadian, Atefeh

    2011-01-01

    Kienbock's disease, which is an idiopathic osteonecrosis and collapse of the lunate bone, is an uncommon disease in children. This report describes a case of an 11-year-old girl, who presented with avascular necrosis of lunate bone confirmed by radiographic and magnetic resonance imaging evidence. After a short period of casting, the case was fully recovered within one year. The signal change was confirmed by magnetic resonance imaging, and the deformity of lunate that was demonstrated by avascular necrosis. The patient wore a long arm cast for six weeks, and after one year radiographic pattern was normalized. PMID:23358501

  5. A case of Buerger's disease.

    PubMed

    Ambrosi, C N; Rapini, R P

    1993-03-01

    Buerger's disease (thromboangiitis obliterans) is an uncommon vascular occlusive disease most commonly affecting the lower extremities of young male tobacco smokers. We report the case of a thirty-five-year-old man who presented with nonhealing ulcerations of several toes. Arteriography revealed severe bilateral vascular occlusion. The patient failed to respond to intensive topical care, nifedipine, pentoxifylline, hyperbaric oxygen, intravenous antibiotics, and whirlpool. He continued to smoke, and eventually became septic, requiring amputations of his gangrenous left second toe and right leg below the knee.

  6. 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.

  7. Hirayama disease in a 17-year-old Chinese man

    PubMed Central

    Sitt, Jacqueline Ching Man; Fung, Eva Lai Wah; Yuen, Edmund Hok-Yuen; Ahuja, Anil Tejbhan

    2014-01-01

    Hirayama disease is an uncommon cervical myelopathy associated with neck flexion. It has been postulated to be related to the anterior shifting of the posterior dura of the lower cervical dural canal during neck flexion, resulting in lower cervical cord atrophy with asymmetric flattening. We report a case of Hirayama disease in a 17-year-old Chinese man and demonstrate the use of dynamic flexion magnetic resonance imaging of the cervical spine in the diagnosis of the disease. PMID:24379115

  8. Unilateral and pruritic papules: segmental Darier-White disease.

    PubMed

    Puente, Nieves; Nieto, Olga; Tardío, Juan C; Borbujo, Jesús

    2014-11-15

    Darier-White disease is an uncommon disorder, which presents in a localized pattern in about 10% of patients, usually without nail, mucosa, or acral involvement. Type-1 is the most common of the segmental Darier-White disease types: papules have unilateral distribution along Blaschko lines. A 36-year-old woman diagnosed with type-1 segmental Darier-White disease is reported herein.

  9. Oral manifestations caused by the linear IgA disease.

    PubMed

    Eguia del Valle, Asier; Aguirre Urízar, José Manuel; Martínez Sahuquillo, Angel

    2004-01-01

    The Linear IgA deposit related disease or Linear IgA disease (LAD) is a chronic, uncommon and autoimmunological mucocutaneous disease, characterised by linear IgA deposits along the basement membrane zone. In mainly cases, moreover cutaneous lesions, there are oral mucosal and other mucosal lesions. There are also, some cases published of Linear IgA disease limited to oral mucosa. The known of this disease is important for the establishment of a correct differential diagnosis in cases of blistering mucocutaneous diseases. In this paper, we analyze the most important features of this disease, attending specially to the oral manifestations.

  10. 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…

  11. 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…

  12. 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.…

  13. 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

  14. Changes in Semantic Memory in Early Stage Alzheimer's Disease Patients.

    ERIC Educational Resources Information Center

    Weingartner, Herbert J.; And Others

    1993-01-01

    Contrasts changes in semantic memory in elderly normal controls and Alzheimer's disease (AD) patients before patients expressed symptoms. Found that controls generated more uncommon exemplars from closed semantic categories (fruits and vegetables) than did AD patients prior to presumed onset of AD. AD patients were just as productive as controls…

  15. Rare Submandibular Presentation of Pediatric Castleman Disease: Case Report.

    PubMed

    Hamilton, Jodi; Mandel, Louis

    2016-10-28

    Castleman disease (CD), a benign lymphoproliferative disorder that affects lymph nodes, is uncommon in children, with only approximately 100 cases published. Although 23% of pediatric CD cases are found in the neck, there is no substantial reported percentage found in the salivary glands, especially the submandibular salivary gland (SMSG). A pediatric case of CD involving the SMSG is reported because of its extreme rarity.

  16. 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

  17. 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

  18. 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.

  19. Mitogenomes from two uncommon haplogroups mark late glacial/postglacial expansions from the near east and neolithic dispersals within Europe.

    PubMed

    Olivieri, Anna; Pala, Maria; Gandini, Francesca; Hooshiar Kashani, Baharak; 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.

  20. Skeletal photopenic appearance of Paget's disease with indium-111 white blood cell imaging

    SciTech Connect

    Borin, B.F.; Abghari, R.; Sarkissian, A.

    1987-10-01

    A case of focal decreased skeletal uptake with In-111 labeled white blood cells representing Paget's disease is reported. Although uncommon, other causes for skeletal photon deficient areas using In-111 white blood cells have been described. To the authors' knowledge, this finding representing Paget's disease has not been previously described.

  1. 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...

  2. 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.

  3. Graves’ disease allied with multiple pheochromocytoma

    PubMed Central

    Housni, Brahim; Elharroudi, Tijani; Soufi, Mehdi; Bouziane, Mohammed; Azzouzi, Abderahim

    2013-01-01

    Pheochromocytoma is an uncommon cause of high blood pressure touching adults. The combination of severe hypertension in the triad of headache, sweating, and tachycardia should suggest this diagnosis; this clinical picture is similar to that of hyperthyroidism. We report the case of a 22-year-old patient with multiple pheochromocytoma associated with Graves’ disease revealed by malignant hypertension and discussed the difficulties of the diagnosis and the treatment approach. PMID:23776912

  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.

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

    PubMed Central

    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

  6. Primary Mucinous Adenocarcinoma of the Urinary Bladder with Signet-Ring Cells: Description of an Uncommon Case and Critical Points in Its Management

    PubMed Central

    Amorim Aita, Giuliano; Amorim Aita, Daniele

    2016-01-01

    We present an uncommon case of mucinous adenocarcinoma of the bladder (MAB) with signet-ring cells extensively infiltrating prostate gland and pelvic/retroperitoneal lymph node stations and not responsive to usual systemic chemotherapy regimens. This case highlights the important features of MAB including the pattern of tumor spread, the tendency for initial misdiagnosis, and the importance of immunohistochemical study in order to define its primary origin from the bladder and choose the most appropriate treatment since the beginning. PMID:28078160

  7. 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

  8. An experimental and theoretical study to relate uncommon rock/fluid properties to oil recovery. Quarterly report, October 1, 1992--December 31, 1992

    SciTech Connect

    Watson, R.W.; Ertekin, T.; Owolabi, O.O.

    1992-12-31

    The overall objectives of the project are: To develop a better understanding of some important but not really well investigated rock/pore properties such as: tortuosity, pore-size distribution. surface area, and wettability, and a better insight on capillary pressure variation with respect to wettability and pore geometry of sandstone and limestone. To improve the understanding of fluid flow in porous media under conditions of secondary and tertiary recovery, through the laboratory study of the performance of enhanced recovery methods such as waterflooding. To develop empirical relationships between residual oil saturation and oil recovery at breakthrough and the uncommon rock/pore properties. Develop relationships between residual oil saturation and ultimate-oil recovery at floodout and the uncommon rock/pore properties for the different porous media. Furthermore, variations of irreducible water saturation, porosity and absolute permeability with respect to the uncommon rock/pore properties, residual oil saturation and oil recovery will be investigated. During the current quarter, the mercury porosimetry experiments on limestone core-plug samples were completed. The experimental data were also fully analyzed.

  9. Early gastric cancer in Menetrier's disease.

    PubMed

    Remes-Troche, Jose Maria; Zapata-Colindres, Juan Carlos; Starkman, Ivethe; De Anda, Jazmin; Arista-Nasr, Julian; Valdovinos-Diaz, Miguel Angel

    2009-01-01

    Uncommon conditions such as pernicious anaemia and hypertrophic gastropathies have been considered as risk factors for gastric cancer; however, the exact increase in risk is unknown. Menetrier's disease is a rare hyperproliferative disorder of the stomach caused by an overexpression of tumour growth factor α, a ligand for the tyrokinase epidermal growth factor receptor, resulting in a selective expansion of surface mucous cells in the body and fundus of the stomach. There have been nearly 200 cases of Menetrier's disease reported in the literature yet less than 15 have been associated with gastric adenocarcinoma. Here, we report an early stage gastric adenocarcinoma detected incidentally in a patient recently diagnosed with Menetrier's disease.

  10. Campylobacter jejuni, an uncommon cause of splenic abscess diagnosed by 16S rRNA gene sequencing.

    PubMed

    Seng, Piseth; Quenard, Fanny; Menard, Amélie; Heyries, Laurent; Stein, Andreas

    2014-12-01

    Splenic abscess is a rare disease that primarily occurs in patients with splenic trauma, endocarditis, sickle cell anemia, or other diseases that compromise the immune system. This report describes a culture-negative splenic abscess in an immunocompetent patient caused by Campylobacter jejuni, as determined by 16S rRNA gene sequencing.

  11. Fibrillary glomerulonephritis in Castleman's disease.

    PubMed

    Miadonna, A; Salmaso, C; Palazzi, P; Elli, A; Braidotti, P; Lambertenghi Deliliers, G

    1998-01-01

    Castleman's disease is an uncommon lymph node disorder which can be associated with renal disease. In this report we describe a patient with fever, weight loss, anorexia, increase in inflammatory proteins, anemia and nephrotic syndrome. Castleman's disease, plasma cell type, was diagnosed by histologic analysis after surgical excision of a pelvic lymph node. The disease was considered localized, since further investigations did not show any other pathologic mass. After resection of the pelvic lymphoid mass, clinical remission of systemic symptoms and laboratory abnormalities was observed, with the exception of the nephrotic syndrome. Renal biopsy was performed and showed a pattern compatible with fibrillary glomerulonephritis. Progressive decline in renal function was observed, despite immunosuppressive therapy.

  12. 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.

  13. 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

  14. Sexually transmitted diseases in children in India.

    PubMed

    Dhawan, Jyoti; Gupta, Somesh; Kumar, Bhushan

    2010-01-01

    Sexually transmitted diseases (STDs) in children are not uncommon in India, though systematic epidemiological studies to determine the exact prevalence are not available. STDs in children can be acquired via sexual route or, uncommonly, via non-sexual route such as accidental inoculation by a diseased individual. Neonatal infections are almost always acquired intrauterine or during delivery. Voluntary indulgence in sexual activity is also an important factor in acquisition of STDs in childhood. Sexual abuse and sex trafficking remain the important problems in India. Surveys indicate that nearly half of the children are sexually abused. Most at risk children are street-based, homeless or those living in or near brothels. Last two decades have shown an increase in the prevalence of STDs in children, though most of the data is from northern part of the country and from major hospitals. However, due to better availability of antenatal care to majority of women, cases of congenital syphilis have declined consistently over the past two-three decades. Other bacterial STDs are also on decline. On the other hand, viral STDs such as genital herpes and anogenital warts are increasing. This reflects trends of STDs in the adult population. Concomitant HIV infection is uncommon in children. Comprehensive sex education, stringent laws to prevent sex trafficking and child sexual abuse, and antenatal screening of all the women can reduce the prevalence of STDs in children.

  15. Immunologically mediated oral diseases

    PubMed Central

    Jimson, Sudha; Balachader, N.; Anita, N.; Babu, R.

    2015-01-01

    Immune mediated diseases of oral cavity are uncommon. The lesions may be self-limiting and undergo remission spontaneously. Among the immune mediated oral lesions the most important are lichen planus, pemphigus, erythema multiformi, epidermolysis bullosa, systemic lupus erythematosis. Cellular and humoral mediated immunity play a major role directed against epithelial and connective tissue in chronic and recurrent patterns. Confirmatory diagnosis can be made by biopsy, direct and indirect immunoflouresence, immune precipitation and immunoblotting. Therapeutic agents should be selected after thorough evaluation of immune status through a variety of tests and after determining any aggravating or provoking factors. Early and appropriate diagnosis is important for proper treatment planning contributing to better prognosis and better quality of life of patient. PMID:26015713

  16. Male Zuska's disease.

    PubMed

    Johnson, Shepard P; Kaoutzanis, Christodoulos; Schaub, George A

    2014-04-04

    Subareolar abscess of the male breast is a rare condition, which can be complicated by a fistula from the areolar skin into a lactiferous duct. In 1951, Zuska et al first characterised this entity in women. Literature on mammillary fistulas in men is scarce and therefore standardisation of treatment does not exist. We present two cases of recurrent subareolar abscesses with draining fistulas. Both patients were successfully treated by complete excision of the lactiferous duct fistula, and continue to do well with no evidence of disease recurrence. When male patients present with a draining subareolar abscess, one should have a high index of suspicion for a mammillary fistula. Failure to identify and surgically excise the fistula may lead to recurrence of the abscess and prolonged morbidity. The most effective management of this uncommon entity includes complete excision of the lactiferous duct fistula.

  17. 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).

  18. 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.

  19. An uncommon case of arterial aneurysms association with high plasma levels of Matrix Metalloproteinase-9 and Neutrophil Gelatinase-Associated Lipocalin

    PubMed Central

    De Caridi, Giovanni; Massara, Mafalda; Spinelli, Francesco; Grande, Raffaele; Butrico, Lucia; Rende, Pierandrea; Amato, Maurizio; Compagna, Rita; Amato, Bruno; de Franciscis, Stefano; Serra, Raffaele

    2015-01-01

    The association of an axillary artery aneurysm and an abdominal aortic aneurysm is extremely rare. In this study, we describe this association in a 69 year-old-man. We measured this patient’s metalloproteinases (MMPs) and Neutrophil Gelatinase – Associated Lipocalin (NGAL) levels over a three years period before the abdominal aortic aneurysm rupture. We speculate that high serium levels of MMPs and NGAL may have a prognostic role and may predict aneurysm rupture in patients with an uncommon association of arterial aneurysms. PMID:28352742

  20. Current diagnosis and treatment of Castleman's disease.

    PubMed

    González García, A; Moreno Cobo, M Á; Patier de la Peña, J L

    2016-04-01

    Castleman's disease is not just a single disease but rather an uncommon, heterogeneous group of nonclonal lymphoproliferative disorders, which have a broad spectrum of clinical expression. Three histological types have been reported, along with several clinical forms according to clinical presentation, histological substrate and associated diseases. Interleukin-6, its receptor polymorphisms, the human immunodeficiency virus and the human herpes virus 8 are involved in the etiopathogenesis of Castleman's disease. The study of this disease has shed light on a syndrome whose incidence is unknown. Despite recent significant advances in our understanding of this disease and the increasing therapeutic experience with rituximab, tocilizumab and siltuximab, there are still difficult questions concerning its aetiology, prognosis and optimal treatment.

  1. A free terminal ileal perforation from active crohn disease in pregnancy: a diagnostic challenge.

    PubMed

    Philip, Sunu; Kamyab, Armin; Orfanou, Paraskevi

    2015-03-01

    The surgical management of the complications of Crohn disease is often challenging. These difficulties are compounded in pregnancy by competing interests of the mother and the baby. In this report, we describe the presentation and surgical management of a patient in her second trimester with active Crohn disease who required emergent surgical intervention. She had presented with the uncommon complication of a free perforation in the presence of active untreated disease.

  2. 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.

  3. 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.

  4. Chylothorax and chylopericardium in Behçet's diseases: case report and literature review.

    PubMed

    Zhang, Lu; Zu, Ning; Lin, Bing; Wang, Guochun

    2013-07-01

    Behçet's disease (BD) with chylothorax and/or chylopericardium is uncommon. Here, we report a case of a 32-year-old man suffering BD with chylothorax and chylopericardium complications. We also review the literature and discuss clinical characteristics, possible pathogenesis, and treatment strategy of patients suffering BD with chylothorax and/or chylopericardium complications.

  5. Left atrial myxoma, ruptured chordae tendinae causing mitral regurgitation and coronary artery disease.

    PubMed

    Kumar, Bhupesh; Raj, Ravi; Jayant, Aveek; Kuthe, Sachin

    2014-01-01

    Mitral regurgitation is uncommon with left atrial myxoma. The echocardiographic assessment of presence of mitral regurgitation and its severity are impaired by the presence of left atrial myxoma. We describe an uncommon association of left atrial myxoma with coronary artery disease and mitral regurgitation. MR was reported as mild on pre-operative transthoracic echocardiography but found to be severe due to ruptured chordae tendinae during intra-operative transesophageal echocardiography, which lead to change in the surgical plan to mitral valve replacement in addition to excision of myxoma.

  6. 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

  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. 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

  9. Kaposi sarcoma in association with molluscum contagiosum: an uncommon diagnosis in a single biopsy and potential diagnostic pitfall.

    PubMed

    Prasad Busarla, Satya Vara; Sayed, Shahin; Nazarian, Rosalynn M; Gimbel, Devon C; Moloo, Zahir; Sohani, Aliyah R

    2012-02-01

    Molluscum contagiosum is a cutaneous poxviral infection that is rarely associated with other skin diseases, such as cutaneous neoplasms. Such associations are likely to be coincidental, except in immunocompromised patients. Kaposi sarcoma, an angioproliferative neoplasm derived from lymphatic endothelium, is mediated by human herpes virus-8 infection and occurs with increased frequency in immunocompromised individuals. We report an unusual case of molluscum contagiosum with underlying cutaneous Kaposi sarcoma diagnosed in a single skin biopsy of a human immunodeficiency virus-positive patient. Our case highlights the importance of adequate sampling to avoid missing secondary diagnoses in histopathologic sections and alerts pathologists and dermatologists to the possibility of coinfection in high-risk patients by 2 virally-mediated skin conditions.

  10. 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

  11. A 1:1 pharmaceutical cocrystal of myricetin in combination with uncommon piracetam conformer: X-ray single crystal analysis and mechanochemical synthesis

    NASA Astrophysics Data System (ADS)

    Sowa, Michał; Ślepokura, Katarzyna; Matczak-Jon, Ewa

    2014-01-01

    Combination of two Active Pharmaceutical Ingredients, myricetin and piracetam, yields a 1:1 cocrystal characterized by X-ray single-crystal and powder diffraction, Raman spectroscopy, 1H NMR, thermal analysis (DSC and TG-DTA) methods. Constituents of the cocrystalline phase were also investigated in terms of Hirshfeld surfaces. Compounds in their neutral forms cocrystallize in the Pna21 space group of orthorhombic system. Notably, piracetam adopts an uncommon conformation, not encountered in its cocrystals previously described. In the crystal lattice, a three-dimensional hydrogen-bonded network is observed, including formation of a 2D molecular scaffolding motif. A scale-up procedure is readily available with use of solvent-drop grinding method, in which application of a variety of common solvents leads to formation of the cocrystal, as confirmed by XRPD and Raman spectroscopy.

  12. A case report of an uncommon sex-cord stromal tumor consisted of luteal and sertoli cells in a spayed bitch.

    PubMed

    Ichimura, Ryohei; Shibutani, Makoto; Mizukami, Sayaka; Suzuki, Terumasa; Shimada, Yuko; Mitsumori, Kunitoshi

    2010-02-01

    We report a rare case of benign sex cord-stromal tumor consisted largely of luteoma with minor portion of Sertoli cell tumor located at the position of the left ovary excision in an 11-year-old ovariectomized bitch. Granulosa cell component was lacking, and both luteal and Sertoli cell portions were entirely positive for inhibin alpha and neuron-specific enolase, whereas luteoma portion alone was positive for Wilms' tumor-1 (WT1), immunohistochemically. The results suggest that this tumor is a possible complication of incomplete ovarian excision at the time of ovariectomy and consisted of uncommon hybrid of luteal and Sertoli cells to be diagnosed as an unclassified sex cord-stromal tumor if applied in human cases. WT1-expression pattern suggested the signature of the difference in the phenotype of these cell types.

  13. Mo and W dihalide complexes with uncommon trigonal-prismatic geometry imposed by the linear tetraphosphine ancillary ligand and their reactivities toward diazoalkanes.

    PubMed

    Seino, Hidetake; Watanabe, Daisuke; Ohnishi, Takeshi; Arita, Chirima; Mizobe, Yasushi

    2007-06-11

    New Mo and W tetraphosphine-dihalide complexes [MX2(kappa4-P4)] (2, MX=MoCl, MoBr, WBr; P4=meso-o-C6H4(PPhCH2CH2PPh2)2) with uncommon trigonal-prismatic geometries have been prepared. Treatment of ethyl diazoacetate with 2 (MX=MoCl) resulted in catalytic carbenoid-group coupling to give diethyl maleate and fumarate, whereas reactions of 2 with trimethylsilyldiazoalkane formed the diazoalkane complexes trans-[MX(NN=CHSiMe3)-(kappa4-P4)]+ (3+) and cis,mer-[MoCl2(NN=CHSiMe3)(kappa3-P4)]. The molecular structures of 2 (MX=MoCl) and 3[PF6] (MX=WBr) were crystallographically determined.

  14. 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

  15. Key Impact of an Uncommon Plasmid on Bacillus amyloliquefaciens subsp. plantarum S499 Developmental Traits and Lipopeptide Production

    PubMed Central

    Molinatto, Giulia; Franzil, Laurent; Steels, Sébastien; Puopolo, Gerardo; Pertot, Ilaria; Ongena, Marc

    2017-01-01

    The rhizobacterium Bacillus amyloliquefaciens subsp. plantarum S499 (S499) is particularly efficient in terms of the production of cyclic lipopeptides, which are responsible for the high level of plant disease protection provided by this strain. Sequencing of the S499 genome has highlighted genetic differences and similarities with the closely related rhizobacterium B. amyloliquefaciens subsp. plantarum FZB42 (FZB42). More specifically, a rare 8008 bp plasmid (pS499) harboring a rap-phr cassette constitutes a major distinctive element between S499 and FZB42. By curing this plasmid, we demonstrated that its presence is crucial for preserving the typical physiology of S499 cells. Indeed, the growth rate and extracellular proteolytic activity were significantly affected in the cured strain (S499 P−). Furthermore, pS499 made a significant contribution to the regulation of cyclic lipopeptide production. Surfactins and fengycins were produced in higher quantities by S499 P−, whereas lower amounts of iturins were detected. In line with the increase in surfactin release, bacterial motility improved after curing, whereas the ability to form biofilm was reduced in vitro. The antagonistic effect against phytopathogenic fungi was also limited for S499 P−, most probably due to the reduction of iturin production. With the exception of this last aspect, S499 P− behavior fell between that of S499 and FZB42, suggesting a role for the plasmid in shaping some of the phenotypic differences observed in the two strains. PMID:28154555

  16. Diuretic use in renal disease.

    PubMed

    Sica, Domenic A

    2011-12-20

    Diuretics are agents commonly used in diseases characterized by excess extracellular fluid, including chronic kidney disease, the nephrotic syndrome, cirrhosis and heart failure. Multiple diuretic classes, including thiazide-type diuretics, loop diuretics and K(+)-sparing diuretics, are used to treat patients with these diseases, either individually or as combination therapies. An understanding of what determines a patient's response to a diuretic is a prerequisite to the correct use of these drugs. The response of patients with these diseases to diuretics, which is related to the dose, is best described by a sigmoid curve whose contour can become distorted by any of the several sodium-retaining states that are directly or indirectly associated with renal disease. Diuretic actions are of considerable importance to patients who have renal disease, as their effective use assists in extracellular fluid volume control, reducing excretion of protein in urine and lessening the risk of developing hyperkalemia. Diuretic-related adverse events that involve the uric acid, Na(+) and K(+) axes are not uncommon; therefore the clinician must be vigilant in looking for biochemical disturbances. As a result of diuretic-related adverse events, clinicians must be resourceful in the dose amount and frequency of dosing.

  17. Endocrine Diseases

    MedlinePlus

    ... History Research Resources Research at NIDDK Meetings & Events Technology Advancement & Transfer Health Information Diabetes Digestive Diseases Kidney Disease Weight Management Liver Disease Urologic Diseases Endocrine Diseases Diet & Nutrition ...

  18. Crohn's Disease

    MedlinePlus

    ... History Research Resources Research at NIDDK Meetings & Events Technology Advancement & Transfer Health Information Diabetes Digestive Diseases Kidney Disease Weight Management Liver Disease Urologic Diseases Endocrine Diseases Diet & Nutrition ...

  19. 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.

  20. Recurrent case of ibuprofen-induced aseptic meningitis in mixed connective tissue disease.

    PubMed

    Karmacharya, Paras; Mainali, Naba Raj; Aryal, Madan Raj; Lloyd, Benjamin

    2013-04-30

    Although relatively uncommon, the incidence of non-steroidal anti-inflammatory drug-induced aseptic meningitis appears to be increasing among patients with connective tissue disease and also among the healthy population. Ibuprofen is the most common culprit identified. We report a case of a 28-year-old woman with mixed connective tissue disease and recent intake of ibuprofen, presenting with a recurrent episode of ibuprofen-induced aseptic meningitis.

  1. Psoriasis with extramammary paget disease in a male: a case report.

    PubMed

    Liu, Junlian; Chen, Wei; Zhou, Jinlian; Liu, Jianjun; Zhang, Jianzhong

    2015-01-01

    Psoriasis is a chronic inflammatory skin disease that is characterized by erythematous, sharply demarcated papules and plaques covered by scales. Extramammary Paget disease (EMPD) is a uncommon neoplastic condition of apocrine gland-bearing skin and its occurrence in combination with psoriasis is very rare. We report an interesting case of a 61-year-old male with extensive psoriasis presented with penoscrotal EMPD, which was confirmed by histopathological stain.

  2. Extramammary Paget disease.

    PubMed

    Hartman, Rachael; Chu, Julie; Patel, Rishi; Meehan, Shane; Stein, Jennifer A

    2011-10-15

    We report the case of a 60-year-old man with penile-scrotal extramammary Paget disease (EMPD). The patient initially underwent Mohs micrographic surgery, but the margins remained positive after several sections; multiple scouting punch biopsies used to define the extent of the tumor were also positive. Because of concerns about functional impairment and cosmesis associated with wide local excision, the patient instead chose treatment with topical 5 percent imiquimod cream as a cytoreductive and margin-defining treatment. Owing to the association between EMPD and underlying malignant conditions, a thorough metastatic evaluation is necessary, particularly to rule out genitourinary cancer in the setting of penile-scrotal EMPD. Management of EMPD is complicated by the multifocal, non-contiguous nature of the disease and the presence of clinically occult extensions. As a result, recurrence rates after surgery are high. Several non-surgical modalities have been used to treat EMPD, which include radiotherapy, topical imiquimod, topical 5-fluorouracil, topical bleomycin, photodynamic therapy, CO2 laser ablation, and topical retinoids. Systemic chemotherapy also has been used to treat advanced EMPD. However, because EMPD is so uncommon, clinical trials comparing the various methods of treatment are lacking. Regardless of the mode of treatment, long-term follow up is essential, given the high rate of recurrence.

  3. Managing Acute Complications Of Sickle Cell Disease In Pediatric Patients.

    PubMed

    Subramaniam, Sathyaseelan; Chao, Jennifer H

    2016-11-01

    Sickle cell disease is a chronic hematologic disease with a variety of acute, and often recurring, complications. Vaso-occlusive crisis, a unique but common presentation in sickle cell disease, can be challenging to manage. Acute chest syndrome is the leading cause of death in patients with sickle cell disease, occurring in more than half of patients who are hospitalized with a vaso-occlusive crisis. Uncommon diagnoses in children, such as stroke, priapism, and transient red cell aplasia, occur more frequently in patients with sickle cell disease and necessitate a degree of familiarity with the disease process and its management. Patients with sickle cell trait generally have a benign course, but are also subject to serious complications. This issue provides a current review of evidence-based management of the most common acute complications of sickle cell disease seen in pediatric patients in the emergency department.

  4. 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.

  5. 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.

  6. Genomic characterization and molecular investigation of VP7 epitopes of uncommon G10P[8] group A rotavirus strains detected in Italy in 2009.

    PubMed

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

    2015-07-01

    Rotavirus strains with the uncommon genotype G10 have been detected sporadically in cases of acute gastroenteritis in humans and are thought to be transmitted zoonotically. During 2009, 10 G10P[8] rotavirus strains were detected in the stools of children hospitalized with acute diarrhoea in several paediatric hospitals in Italy. The phylogenetic analysis of the VP7 gene of the Italian G10P[8] strains analysed revealed nucleotide identities ranging from 94 to 99 %. Molecular characterization of the 11 genomic segments was performed for one of the G10 strains, which displayed a complete genomic constellation 1 for the non-G genes. The analysis of the deduced amino acid sequences of the G10 VP7 epitopes revealed low amino acid identity with common human strains of different G genotype and with the VP7 proteins included in both anti-rotavirus commercial vaccines (Rotarix and RotaTeq). Amongst the common G genotypes, the VP7 amino acid sequence of the G10 strains showed a high similarity with sequences from G9 strains. A hydrophobic cluster analysis (HCA) of the VP7 protein including aa 20-298 was performed for the G10 Italian sequences in comparison with the major human group A rotavirus G genotypes. The HCA analysis confirmed the findings obtained previously by amino acid analysis of the VP7 epitopes, detecting a genotype-specific pattern of hydrophobicity in the hypervariable regions of the major outer capsid protein.

  7. Evaluation of epidemiological cut-off values indicates that biocide resistant subpopulations are uncommon in natural isolates of clinically-relevant microorganisms.

    PubMed

    Morrissey, Ian; Oggioni, Marco Rinaldo; Knight, Daniel; Curiao, Tania; Coque, Teresa; Kalkanci, Ayse; Martinez, Jose Luis

    2014-01-01

    To date there are no clear criteria to determine whether a microbe is susceptible to biocides or not. As a starting point for distinguishing between wild-type and resistant organisms, we set out to determine the minimal inhibitory concentration (MIC) and minimal bactericidal concentration (MBC) distributions for four common biocides; triclosan, benzalkonium chloride, chlorhexidine and sodium hypochlorite for 3319 clinical isolates, with a particular focus on Staphylococcus aureus (N = 1635) and Salmonella spp. (N = 901) but also including Escherichia coli (N = 368), Candida albicans (N = 200), Klebsiella pneumoniae (N = 60), Enterobacter spp. (N = 54), Enterococcus faecium (N = 53), and Enterococcus faecalis (N = 56). From these data epidemiological cut-off values (ECOFFs) are proposed. As would be expected, MBCs were higher than MICs for all biocides. In most cases both values followed a normal distribution. Bimodal distributions, indicating the existence of biocide resistant subpopulations were observed for Enterobacter chlorhexidine susceptibility (both MICs and MBCs) and the susceptibility to triclosan of Enterobacter (MBC), E. coli (MBC and MIC) and S. aureus (MBC and MIC). There is a concern on the potential selection of antibiotic resistance by biocides. Our results indicate however that resistance to biocides and, hence any potential association with antibiotic resistance, is uncommon in natural populations of clinically relevant microorganisms.

  8. Sea anemone peptide with uncommon β-hairpin structure inhibits acid-sensing ion channel 3 (ASIC3) and reveals analgesic activity.

    PubMed

    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

    2013-08-09

    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.

  9. Ethical approval for research involving geographically dispersed subjects: unsuitability of the UK MREC/LREC system and relevance to uncommon genetic disorders

    PubMed Central

    Lewis, J C; Tomkins, S; Sampson, J R

    2001-01-01

    Objectives—To assess the process involved in obtaining ethical approval for a single-centre study involving geographically dispersed subjects with an uncommon genetic disorder. Design—Observational data of the application process to 53 local research ethics committees (LRECs) throughout Wales, England and Scotland. The Multicentre Research Ethics Committee (MREC) for Wales had already granted approval. Results—Application to the 53 LRECs required 24,552 sheets of paper and took two months of the researcher's time. The median time taken for approval was 39 days with only seven (13%) of committees responding within the recommended 21 days. In at least nineteen cases (36%) a subcommittee considered the application. Thirty-three committees (62%) accepted the proposal without amendments but, of the remainder, four (8%) requested changes outside of the remit of LRECs. Discussion—Difficulties still exist with the system for obtaining ethical approval for studies involving a single centre but with patients at multiple sites, as is often required for genetic observational research. As such studies differ from true multicentre studies, it may be advantageous to develop a separate and specific process of application to ensure that resources are not unnecessarily expended in the quest for ethical approval. Key Words: Research ethics • MREC • LREC PMID:11579194

  10. Degos' disease: a distinctive pattern of disease, chiefly of lupus erythematosus, and not a specific disease per se.

    PubMed

    Ball, Elizabeth; Newburger, Amy; Ackerman, A Bernard

    2003-08-01

    Degos' disease, known confusingly as malignant strophic papularis, is an uncommon condition of unknown cause characterized by distinctive infarctive lesions in the skin, gastrointestinal tract, and central nervous system; the lesions at the two latter sites often result in death. We deem Degos' disease to be analogous to lupus erythematosus in the sense that each is fundamentally a systemic pathologic process involving several organs, among them the skin, but, moreover, we regard Degos' disease, in most instances, to be an actual manifestation of lupus erythematosus. Histopathologically, the findings in sections of tissue of skin lesions of Degos' disease are indistinguishable from those of one expression of cutaneous lupus erythematosus; immunopathologically, some patients with morphologic findings stereotypical of Degos' disease display signs characteristic of lupus erythematosus. For these reasons, we consider Degos' disease to be a distinctive pattern of disease, rather than a specific disease per se, just as are erythema multiforme, erythema nodosum, leukocytoclastic vasculitis, Sweet's syndrome, and pyoderma gangrenosum, to name but five of scores of them. The singular pattern that is designated Degos' disease usually is an expression of lupus erythematosus, but, episodically, of conditions like dermatomyositis and rheumatoid arthritis.

  11. 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.

  12. Cardiovascular adaptation and cardiac disease in the elite athlete.

    PubMed

    Del Río-santiago, Valentín; Santiago Trinidad, Ricardo; Vicenty Rivera, Sonia

    2012-01-01

    Cardiovascular diseases are uncommon among trained athletes. Their occurrences mostly depend on the individual's age and fitness levels. Adequate understanding of the cardiovascular adaptations undergone by the competitive athletes' heart is of paramount importance in order to differentiate them from serious cardiovascular conditions. Diagnosing these abnormalities early may prevent rare but devastating potential complications associated with athletic activities and defines appropriate activity restrictions to minimize the risk of sudden cardiac death. This article will review concerns related to competitive athlete's cardiovascular adaptations and diseases, in light of specific recommendations presented in the 36th Bethesda Conference guidelines.

  13. 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

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

    PubMed

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

    2016-01-01

    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.

  15. 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.

  16. 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

  17. Multicentric Castleman's Disease in a Child Revealed by Chronic Diarrhea

    PubMed Central

    Benmiloud, Sarra; Chaouki, Sana; Atmani, Samir; Hida, Moustapha

    2015-01-01

    Multicentric Castleman's disease is a rare benign and unexplained lymphoproliferative disorder that is extremely uncommon in children. It presents with fever, systemic symptoms, generalized lymphadenopathy, and laboratory markers of inflammation. Its treatment is not standardized and its prognosis is poor. We report a novel case of multicentric Castleman's disease in a 13-year-old girl who had presented with chronic diarrhea as the only initial presenting symptom. The diagnosis of celiac or inflammatory bowel diseases was suspected, but two and a half years later, the diagnosis of multicentric Castleman's disease was brought following the appearance of abdominal mass whose biopsy revealed Castleman's disease in the plasma cell form. The outcome was favorable after treatment by corticosteroid, chemotherapy, and surgery. The occurrence of diarrhea as the initial symptom of multicentric Castleman's disease without lymph node involvement is very rare. This case report underlines the diagnostic difficulties and the long interval between onset and diagnosis when diarrhea occurs first. PMID:25737793

  18. An uncommonly common: Glossopharyngeal neuralgia

    PubMed Central

    Singh, P. M.; Kaur, Manpreet; Trikha, Anjan

    2013-01-01

    Glossopharyngeal neuralgia is a relatively rare condition characterized by severe, paroxysmal episodes of pain localized to the external ear canal, the base of the tongue, the tonsil or the area beneath the angle of the jaw. This pain is many a times confused with Trigeminal Neuralgia and mistreated. There are various diagnostic and management dilemmas which are herein addressed in this review. PMID:23661955

  19. Five Uncommon but Useful Knots.

    ERIC Educational Resources Information Center

    Chisnall, Rob

    1997-01-01

    Describes five useful, little-known knots: mooring hitch for securing a line to a stump or post; highwayman's cutaway for securing canoe lines or horses' reins; taut-line hitch or midshipman's hitch for securing tent guys; and Hedden knot and C&F belay hitch, used by rock climbers and mountaineers, which combine in a simple rescue haul system.…

  20. Cutaneous paraneoplastic syndromes: uncommon presentations.

    PubMed

    Thomas, Isabelle; Schwartz, Robert A

    2005-01-01

    Paraneoplastic syndromes are a group of clinical manifestations associated with a malignancy, but not directly related to the primary tumor itself or to its metastases. Characteristically, they follow a course parallel to the tumor, resolve with successful treatment of the primary tumor, and tend to recur with its relapse or the onset of metastases. The mechanism by which they occur is not well understood, but may be related to the production of bioactive substances by or in response to the tumor, such as polypeptide hormones, hormone-like peptides, antibodies or immune complexes, cytokines, or growth factors.

  1. 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.

  2. Rare species occupy uncommon niches

    PubMed Central

    Markham, John

    2014-01-01

    The fact that temperate grasslands often contain upwards of 30 vascular plant species per m2 yet these species seem to have relatively similar life histories and resource requirements has made explaining species coexistence in these communities a major focus of research. While the reduction of competition by disturbance has been a popular explanation for species coexistence, in tallgrass prairies any level of disturbance either has no effect, or decreases diversity, since it favors the dominant plants. Although there has long been speculation that grassland species could coexist by niche partitioning the concept received renewed interest when it was shown that soil hydrology could explain species coexistence. One aspect of community structure that has not been explained by niche partitioning is the rareness and commonness of species within communities. There are three classes of explanations for rareness: narrow habitat requirements, low competitive ability combined with frequency dependent fitness and, dispersal ability. However, evidence for these explanations tend to be anecdotal, focusing on particular species. Here I show that in tallgrass prairies common and rare species consistently occupy different parts of niche space, with rare species being restricted by the cover of common species and occupying the rare available niches. PMID:25110113

  3. Religiously Dedicated, an Uncommon Approach

    ERIC Educational Resources Information Center

    Haviland, Margaret; Eppler, Kevin; O'Brien, Jennifer

    2017-01-01

    Almost countercultural today, focusing on the humanities--examining what it means to be human, understanding our cultures, and learning to embrace what Jonathan Sacks calls the "Dignity of Difference"--provides students with the tools to reclaim our public spaces, our public dialogue, and our businesses and corporations from the venal,…

  4. Rare species occupy uncommon niches

    NASA Astrophysics Data System (ADS)

    Markham, John

    2014-08-01

    The fact that temperate grasslands often contain upwards of 30 vascular plant species per m2 yet these species seem to have relatively similar life histories and resource requirements has made explaining species coexistence in these communities a major focus of research. While the reduction of competition by disturbance has been a popular explanation for species coexistence, in tallgrass prairies any level of disturbance either has no effect, or decreases diversity, since it favors the dominant plants. Although there has long been speculation that grassland species could coexist by niche partitioning the concept received renewed interest when it was shown that soil hydrology could explain species coexistence. One aspect of community structure that has not been explained by niche partitioning is the rareness and commonness of species within communities. There are three classes of explanations for rareness: narrow habitat requirements, low competitive ability combined with frequency dependent fitness and, dispersal ability. However, evidence for these explanations tend to be anecdotal, focusing on particular species. Here I show that in tallgrass prairies common and rare species consistently occupy different parts of niche space, with rare species being restricted by the cover of common species and occupying the rare available niches.

  5. Uncommon Infant and Newborn Problems

    MedlinePlus

    ... health, call your health care provider right away. Learning information about your baby's condition can help ease your worry. Do not be afraid to ask questions about your baby's care. By working together with your health care provider, you make sure that your baby gets the best care possible.

  6. 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…

  7. 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.

  8. Dental care of patients with autoimmune vesiculobullous diseases: case reports and literature review.

    PubMed

    Fatahzadeh, Mahnaz; Radfar, Lida; Sirois, David A

    2006-01-01

    Dental management of patients with autoimmune vesiculobullous disorders is complicated because of prominent involvement of oral mucosa, increased risk of oral disease, and difficulty in rendering dental care. Although these diseases are relatively uncommon, dental practitioners should be familiar with the oral sequelae of these conditions and their management. Pemphigus vulgaris, cicatricial pemphigoid, and epidermolysis bullosa represent the most common autoimmune oral vesiculobullous diseases. This case-illustrated review summarizes the pathogenesis, diagnostic features, and natural history of oral vesiculobullous disorders, placing an emphasis on the treatment and prevention of associated oral disease aimed at maintaining a healthy, functional dentition.

  9. Myocardial infarction in a 35-day-old infant with incomplete Kawasaki disease and chicken pox.

    PubMed

    Kossiva, Lydia; Papadopoulos, Marios; Lagona, Evangelia; Papadopoulos, George; Athanassaki, Corina

    2010-10-01

    Kawasaki disease is an acute febrile vasculitis of infancy and early childhood. It is uncommon in early infancy, because a significant proportion of these children do not meet the classical diagnostic criteria at this age. Infants younger than 6 months with persistent fever and some of the criteria of Kawasaki disease should always raise suspicion for Kawasaki disease early to avoid delayed diagnosis with severe cardiac complications. We present a 35-day-old infant with incomplete Kawasaki disease complicated with myocardial infarction during chicken pox.

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

    PubMed

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

    2011-08-10

    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.

  11. 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.

  12. An investigation of cytokeratin expression in skin epithelial cysts and some uncommon types of cystic tumours using chain-specific antibodies.

    PubMed

    Broekaert, D; Goeman, L; Ramaekers, F C; Van Muijen, G N; Eto, H; Lane, E B; Leigh, I M; De Bersaques, J; Coucke, P

    1990-01-01

    The differentiation state of skin epithelial cysts and some uncommon types of epithelial skin tumours was investigated by immunohistochemical staining, mainly using cytokeratin (CK) polypeptide-specific monoclonal antibodies. Samples of interfollicular epidermis, hair follicles and eccrine sweat glands were included as reference tissues. The CK reactivity in epidermoid cysts and milia is not restricted to CKs involved in epidermal-type differentiation, i.e. CK1, 5, 10 and 14, but in addition CK16, a hyperproliferative keratinocyte marker is suprabasally expressed. CK1 and 10 are other prominent suprabasal markers, while CK14 seems to be preferentially expressed in the basal cell layer. Of the non-epidermal CKs, only CK4 was focally or more extensively detected in about 50% of the cases. In terms of CK reactivity, keratinization of trichilemmal cysts corresponds to the keratinization of the anagen-phase hair follicle in the isthmus. The CK reactivity is again restricted to CK1, 5, 10, 14 and 16. However, the CK1 as well as CK10 reactivity is subject to serious limitations, since both CKs were only convincingly observed in foci of terminal differentiation. Eccrine hydrocystoma obligatorily expresses a complex CK set, including CK7, 8, 14, 18 and 19. This CK set perfectly corresponds to the CK composition observed in acini of eccrine sweat glands. In addition, a discontinuous CK4 and 16 reactivity was seen in about 50% of the sites, while CK1 and 10 displayed a strictly focal appearance. On the other hand, syringoma produces in its distinct structures, a CK pattern reminiscent of the one observed in eccrine sweat gland ducts and includes CK1, 5, 10, 14, 16 and 19.(ABSTRACT TRUNCATED AT 250 WORDS)

  13. 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

  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

    Costa, Daniel B

    2016-06-01

    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 3(rd) 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.

  15. 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

  16. 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.

  17. Graves' Disease

    MedlinePlus

    ... sheet Hashimoto's disease fact sheet Illnesses and disabilities Lupus fact sheet What is Graves' disease? What are the symptoms of Graves' disease? Who gets Graves' disease? What causes Graves' disease? How do I find out if ...

  18. Zinc absorption in inflammatory bowel disease

    SciTech Connect

    Valberg, L.S.; Flanagan, P.R.; Kertesz, A.; Bondy, D.C.

    1986-07-01

    Zinc absorption was measured in 29 patients with inflammatory bowel disease and a wide spectrum of disease activity to determine its relationship to disease activity, general nutritional state, and zinc status. Patients with severe disease requiring either supplementary oral or parenteral nutrition were excluded. The mean 65ZnCl2 absorption, in the patients, determined using a 65Zn and 51Cr stool-counting test, 45 +/- 17% (SD), was significantly lower than the values, 54 +/- 16%, in 30 healthy controls, P less than 0.05. Low 65ZnCl2 absorption was related to undernutrition, but not to disease activity in the absence of undernutrition or to zinc status estimated by leukocyte zinc measurements. Mean plasma zinc or leukocyte zinc concentrations in patients did not differ significantly from controls, and only two patients with moderate disease had leukocyte zinc values below the 5th percentile of normal. In another group of nine patients with inflammatory bowel disease of mild-to-moderate severity and minimal nutritional impairment, 65Zn absorption from an extrinsically labeled turkey test meal was 31 +/- 10% compared to 33 +/- 7% in 17 healthy controls, P greater than 0.1. Thus, impairment in 65ZnCl2 absorption in the patients selected for this study was only evident in undernourished persons with moderate or severe disease activity, but biochemical evidence of zinc deficiency was uncommon, and clinical features of zinc depletion were not encountered.

  19. Chronic renal disease in pregnancy.

    PubMed

    Ramin, Susan M; Vidaeff, Alex C; Yeomans, Edward R; Gilstrap, Larry C

    2006-12-01

    The purpose of this review was to examine the impact of varying degrees of renal insufficiency on pregnancy outcome in women with chronic renal disease. Our search of the literature did not reveal any randomized clinical trials or meta-analyses. The available information is derived from opinion, reviews, retrospective series, and limited observational series. It appears that chronic renal disease in pregnancy is uncommon, occurring in 0.03-0.12% of all pregnancies from two U.S. population-based and registry studies. Maternal complications associated with chronic renal disease include preeclampsia, worsening renal function, preterm delivery, anemia, chronic hypertension, and cesarean delivery. The live birth rate in women with chronic renal disease ranges between 64% and 98% depending on the severity of renal insufficiency and presence of hypertension. Significant proteinuria may be an indicator of underlying renal insufficiency. Management of pregnant women with underlying renal disease should ideally entail a multidisciplinary approach at a tertiary center and include a maternal-fetal medicine specialist and a nephrologist. Such women should receive counseling regarding the pregnancy outcomes in association with maternal chronic renal disease and the effect of pregnancy on renal function, especially within the ensuing 5 years postpartum. These women will require frequent visits and monitoring of renal function during pregnancy. Women whose renal disease is further complicated by hypertension should be counseled regarding the increased risk of adverse outcome and need for blood pressure control. Some antihypertensives, especially angiotensin-converting enzyme inhibitors and angiotensin-receptor blockers, should be avoided during pregnancy, if possible, because of the potential for both teratogenic (hypocalvaria) and fetal effects (renal failure, oliguria, and demise).

  20. The psoriasis genetics as a model of complex disease.

    PubMed

    Giardina, Emiliano; Sinibaldi, Cecilia; Novelli, Giuseppe

    2004-06-01

    Psoriasis [OMIM*177900] is a common, chronic and papulosquamous inflammatory skin disease affecting approximately 2% of Caucasian. However, this disorder is rare among Japanese, Eskimos, West Africans and North American blacks and very uncommon in North American and South American natives. The causes for these variations are likely to be both genetic and environmental. Population-based studies and twin studies indicate that psoriasis is a heritable disease with a polygenic mode of inheritance with variable penetrance. Independent genome-wide scans have suggested the involvement of a large number of chromosomal regions (loci), and many candidate genes have been proposed. We discuss genetic approaches to the disease, results and interpretations of relevant studies, as well as future perspectives. Understanding the genetic basis of psoriasis will represent a major advance in our understanding of the disease and will reveal novel disease-specific biologic pathways.

  1. Autoimmune diseases and HIV infection

    PubMed Central

    Virot, Emilie; Duclos, Antoine; Adelaide, Leopold; Miailhes, Patrick; Hot, Arnaud; Ferry, Tristan; Seve, Pascal

    2017-01-01

    Abstract To describe the clinical manifestations, treatments, prognosis, and prevalence of autoimmune diseases (ADs) in human immunodeficiency virus (HIV)-infected patients. All HIV-infected patients managed in the Infectious Diseases Department of the Lyon University Hospitals, France, between January 2003 and December 2013 and presenting an AD were retrospectively included. Thirty-six ADs were found among 5186 HIV-infected patients which represents a prevalence of 0.69% including immune thrombocytopenic purpura (n = 15), inflammatory myositis (IM) (n = 4), sarcoidosis (n = 4), Guillain–Barré syndrome (GBS) (n = 4), myasthenia gravis (n = 2), Graves’ disease (n = 2), and 1 case of each following conditions: systemic lupus erythematosus, rheumatoid arthritis, autoimmune hepatitis, Hashimoto thyroiditis and autoimmune hemolytic anemia. One patient presented 2 ADs. Thirty patients were known to be HIV-infected when they developed an AD. The AD preceded HIV infection in 2 patients. GBS and HIV infection were diagnosed simultaneously in 3 cases. At AD diagnosis, CD4 T lymphocytes count were higher than 350/mm3 in 63% of patients, between 200 and 350/mm3 in 19% and less than 200/mm3 in 19%. Twenty patients benefited from immunosuppressant treatments, with a good tolerance. ADs during HIV infection are uncommon in this large French cohort. Immune thrombocytopenic purpura, sarcoidosis, IM, and GBS appear to be more frequent than in the general population. Immunosuppressant treatments seem to be effective and well tolerated. PMID:28121924

  2. Pericardial disease: diagnosis and management.

    PubMed

    Khandaker, Masud H; Espinosa, Raul E; Nishimura, Rick A; Sinak, Lawrence J; Hayes, Sharonne N; Melduni, Rowlens M; Oh, Jae K

    2010-06-01

    Pericardial diseases can present clinically as acute pericarditis, pericardial effusion, cardiac tamponade, and constrictive pericarditis. Patients can subsequently develop chronic or recurrent pericarditis. Structural abnormalities including congenitally absent pericardium and pericardial cysts are usually asymptomatic and are uncommon. Clinicians are often faced with several diagnostic and management questions relating to the various pericardial syndromes: What are the diagnostic criteria for the vast array of pericardial diseases? Which diagnostic tools should be used? Who requires hospitalization and who can be treated as an outpatient? Which medical management strategies have the best evidence base? When should corticosteroids be used? When should surgical pericardiectomy be considered? To identify relevant literature, we searched PubMed and MEDLINE using the keywords diagnosis, treatment, management, acute pericarditis, relapsing or recurrent pericarditis, pericardial effusion, cardiac tamponade, constrictive pericarditis, and restrictive cardiomyopathy. Studies were selected on the basis of clinical relevance and the impact on clinical practice. This review represents the currently available evidence and the experiences from the pericardial clinic at our institution to help guide the clinician in answering difficult diagnostic and management questions on pericardial diseases.

  3. Invasive pneumococcal disease complicated by cerebral vasculitis, transient diabetes insipidus and spondylodiscitis.

    PubMed

    Ribeiro, Sofia; Domingues, Vital; Faria, Raquel M; Mendonça, Teresa

    2013-08-19

    Invasive pneumococcal disease (IPD) is a potential life-threatening situation that requires immediate recognition and treatment. Cerebrovascular complications are uncommon and have been reported less frequently in adults than in children. We report a case of 59-year-old man with IPD complicated by cerebral vasculitis, transient central diabetes insipidus and spondylodiscitis. Each of these complications is rare and needs specific approach. Their association is even rarer and to the best of our knowledge this is the first case reported.

  4. Hematologic manifestations of systemic disease (including iron deficiency, anemia of inflammation and DIC).

    PubMed

    Witmer, Char M

    2013-12-01

    A complete blood cell count (CBC) is a frequent test sent to aid in the diagnostic evaluation of ill patients. Not uncommonly hematologic abnormalities may be the first sign of an underlying systemic disorder. The astute clinician needs to understand how systemic disease can affect the CBC to direct further diagnostic investigations. This article focuses on the 2 most common acquired anemias including iron deficiency and anemia of inflammation as well as disseminated intravascular coagulation.

  5. Paraplegia after aortic and superior mesenteric artery stenting for occlusive disease.

    PubMed

    Hans, Sachinder S; Ngo, William; McAllister, Michael

    2014-02-01

    Paraplegia after endovascular therapy for aortic and visceral artery occlusive disease is an extremely uncommon occurrence. Two cases of paraplegia after placement of an aortic covered stent for infrarenal aortic stenosis and a superior mesenteric artery stent for chronic visceral ischemia are presented. In both patients, embolization of the arterial supply to the spinal cord was the presumed cause. One patient had a slight recovery after intense physical therapy and rehabilitation. The second patient did not have any recovery from her paraplegia.

  6. Coexistence of Takayasu Arteritis and Crohn's Disease in a Maltese Patient

    PubMed Central

    Caruana Galizia, John Paul; Cassar, Paul John

    2015-01-01

    Takayasu arteritis (TA) and Crohn's disease (CD) are uncommon chronic granulomatous disorders affecting the large arteries and the gastrointestinal tract, respectively. At least 40 occurrences of these two conditions in the same patient have been reported in the literature, raising the possibility of an association between them. We report the coexistence of TA and CD in a young Maltese patient and review the literature to discuss possible aetiological mechanisms that might explain this association. PMID:26839728

  7. Rice body mass formation mimicking a neoplastic disease around the trochanteric bursae of the hip.

    PubMed

    Uludağ, Serkan; Seyahi, Aksel; Ege, Yaman; Tetik, Onur

    2010-01-01

    Multiple rice body formation is an uncommon inflammatory process. Sometimes it leads to a big mass in unusual locations. Although sometimes associated with bursitis and systemic diseases, such as rheumatoid arthritis, the pathophysiology of this rare entity is still obscure. We present a 29-year-old woman with multiple rice body mass formation in the trochanteric bursa of the left hip. She was operated, and had no recurrence at 18 months after the surgery.

  8. Genetic alterations in uncommon low-grade neuroepithelial tumors: BRAF, FGFR1, and MYB mutations occur at high frequency and align with morphology.

    PubMed

    Qaddoumi, Ibrahim; Orisme, Wilda; Wen, Ji; Santiago, Teresa; Gupta, Kirti; Dalton, James D; Tang, Bo; Haupfear, Kelly; Punchihewa, Chandanamali; Easton, John; Mulder, Heather; Boggs, Kristy; Shao, Ying; Rusch, Michael; Becksfort, Jared; Gupta, Pankaj; Wang, Shuoguo; Lee, Ryan P; Brat, Daniel; Peter Collins, V; Dahiya, Sonika; George, David; Konomos, William; Kurian, Kathreena M; McFadden, Kathryn; Serafini, Luciano Neder; Nickols, Hilary; Perry, Arie; Shurtleff, Sheila; Gajjar, Amar; Boop, Fredrick A; Klimo, Paul D; Mardis, Elaine R; Wilson, Richard K; Baker, Suzanne J; Zhang, Jinghui; Wu, Gang; Downing, James R; Tatevossian, Ruth G; Ellison, David W

    2016-06-01

    Low-grade neuroepithelial tumors (LGNTs) are diverse CNS tumors presenting in children and young adults, often with a history of epilepsy. While the genetic profiles of common LGNTs, such as the pilocytic astrocytoma and 'adult-type' diffuse gliomas, are largely established, those of uncommon LGNTs remain to be defined. In this study, we have used massively parallel sequencing and various targeted molecular genetic approaches to study alterations in 91 LGNTs, mostly from children but including young adult patients. These tumors comprise dysembryoplastic neuroepithelial tumors (DNETs; n = 22), diffuse oligodendroglial tumors (d-OTs; n = 20), diffuse astrocytomas (DAs; n = 17), angiocentric gliomas (n = 15), and gangliogliomas (n = 17). Most LGNTs (84 %) analyzed by whole-genome sequencing (WGS) were characterized by a single driver genetic alteration. Alterations of FGFR1 occurred frequently in LGNTs composed of oligodendrocyte-like cells, being present in 82 % of DNETs and 40 % of d-OTs. In contrast, a MYB-QKI fusion characterized almost all angiocentric gliomas (87 %), and MYB fusion genes were the most common genetic alteration in DAs (41 %). A BRAF:p.V600E mutation was present in 35 % of gangliogliomas and 18 % of DAs. Pathogenic alterations in FGFR1/2/3, BRAF, or MYB/MYBL1 occurred in 78 % of the series. Adult-type d-OTs with an IDH1/2 mutation occurred in four adolescents, the youngest aged 15 years at biopsy. Despite a detailed analysis, novel genetic alterations were limited to two fusion genes, EWSR1-PATZ1 and SLMAP-NTRK2, both in gangliogliomas. Alterations in BRAF, FGFR1, or MYB account for most pathogenic alterations in LGNTs, including pilocytic astrocytomas, and alignment of these genetic alterations and cytologic features across LGNTs has diagnostic implications. Additionally, therapeutic options based upon targeting the effects of these alterations are already in clinical trials.

  9. Diagnosis of Paracardiac Castleman Disease by Dynamic Gadolinium-Enhanced First Pass Perfusion Magnetic Resonance Imaging

    PubMed Central

    Crean, Andrew; Paul, Narinder; Merchant, Naeem; Singer, Lianne; Provost, Yves

    2008-01-01

    Summary Castleman disease is an uncommon disorder affecting the lymphatic system and is characterised by atypical lymphocyte proliferation. The usual clinical presentation is of a solitary mass lesion, frequently within the thorax. A number of different imaging findings have been reported on CT and MRI. We present a case of paracardiac Castleman disease where the diagnosis was suggested by dramatic enhancement of the tumour mass during a dynamic MR perfusion sequence. To our knowledge this is the first report of the use of a first pass bolus tracking technique in the diagnosis of Castleman disease. PMID:24179362

  10. 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.

  11. 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.

  12. Nutritional cerebellar degeneration, with comments on its relationship to Wernicke disease and alcoholism.

    PubMed

    Laureno, Robert

    2012-01-01

    Nutritional cerebellar degeneration occurs in alcoholism and other states that predispose to malnutrition, such as gastric bypass surgery. Gait ataxia is the principal clinical manifestation. Ataxia of the lower limbs is not uncommon, but upper extremity ataxia and nystagmus are rare. Atrophy of the anterior superior vermis is the primary pathological manifestation in established disease. Typically, the onset is subacute. This cerebellar disease is part of the spectrum of the Wernicke-Korsakoff syndrome, i.e. the cerebellar manifestation of Wernicke disease. It may occur with other lesions of Wernicke disease or in isolation. Rarely, with florid disease, lesions may be hemorrhagic. Active disease should be treated with thiamine in the same way that one treats Wernicke disease. Clinicopathologic correlation in this disease has provided the best evidence that the anterior superior vermis is important in coordinating bipedal locomotion.

  13. Periodontal Diseases

    MedlinePlus

    ... Diseases Small Text Medium Text Large Text Periodontal Diseases Periodontal diseases are disorders of the gums, or gingiva, and other tissues around the teeth. Periodontal diseases vary in severity, from the reversible, recurring mild ...

  14. Parkinson's Disease

    MedlinePlus

    ... Emergency Room? What Happens in the Operating Room? Parkinson's Disease KidsHealth > For Kids > Parkinson's Disease A A ... symptoms of something called Parkinson's disease. What Is Parkinson's Disease? You may have seen the actor Michael ...

  15. Lyme Disease

    MedlinePlus

    ... Loss Surgery? A Week of Healthy Breakfasts Shyness Lyme Disease KidsHealth > For Teens > Lyme Disease A A A ... Northwest, and the northern midwestern states. What Is Lyme Disease? People get Lyme disease through tick bites. The ...

  16. Sandhoff Disease

    MedlinePlus

    ... disease and improve diagnosis) to effectively evaluate brain biochemistry and disease progression, and expanding the use of ... disease and improve diagnosis) to effectively evaluate brain biochemistry and disease progression, and expanding the use of ...

  17. Cat-scratch disease relapse in a kidney transplant recipient.

    PubMed

    Rheault, Michelle N; van Burik, Jo-Anne; Mauer, Michael; Ingulli, Elizabeth; Ferrieri, Patricia; Jessurun, Jose; Chavers, Blanche M

    2007-02-01

    Cat-scratch disease, an infectious illness infrequently reported in kidney transplant patients, is caused by the organism Bartonella henselae and is transmitted through contact with cats or kittens. It is a self-limited disorder in the general pediatric population. Here we present a case of unsuspected cat-scratch disease in a pediatric kidney transplant patient who presented with fever and lymphadenopathy. Eight months after treatment with a short course of azithromycin, the patient developed a recurrence of cat-scratch disease. We emphasize that the evaluation of a young immunocompromised kidney transplant patient presenting with fever and lymphadenopathy should include unusual infections such as cat-scratch disease. We review the diagnosis and treatment of this uncommon infection in the organ transplant population.

  18. Myxomatous mitral valve disease in dogs: Does size matter?

    PubMed Central

    Parker, Heidi G.; Kilroy-Glynn, Paul

    2012-01-01

    Myxomatous mitral valve disease (MMVD) is the most commonly diagnosed cardiovascular disease in the dog accounting for more than 70% of all cardiovascular disease in dogs. As are most canine diseases with genetic underpinnings, risk of MMVD is greatly increased in a subset of breeds. What is uncommon is that the vast majority of the breeds at elevated risk for MMVD are small or toy breeds with average adult weights under 9 kg. These breeds appear to have little in common other than their diminutive size. In the following review we propose a number of mechanisms by which relatively unrelated small breeds may have developed a predisposition for chronic valvular disorders. Although factors such as age are key in the expression of MMVD, taking a comprehensive look at the commonalities, as well as the differences, between the susceptible breeds may assist in finding the causal variants responsible for MMVD and translating them to improved treatments for both dogs and humans. PMID:22356836

  19. Gum Disease and Men

    MedlinePlus

    ... Gum Disease Risk Factors Gum Disease Symptoms Gum Disease Prevention Gum Disease and Other Diseases Gum Disease and ... Gum Disease Risk Factors Gum Disease Symptoms Gum Disease Prevention Gum Disease and Other Diseases Gum Disease and ...

  20. Peri-Implant Diseases

    MedlinePlus

    ... Gum Disease Risk Factors Gum Disease Symptoms Gum Disease Prevention Gum Disease and Other Diseases Gum Disease and ... Gum Disease Risk Factors Gum Disease Symptoms Gum Disease Prevention Gum Disease and Other Diseases Gum Disease and ...

  1. [Benign multicystic peritoneal mesothelioma in a patient with Crohn disease].

    PubMed

    Fluxá, Daniela; Kronberg, Udo; Lubascher, Jaime; O'Brien, Andrés; Las Heras, Facundo; Ibáñez, Patricio; Quera, Rodrigo

    2016-12-01

    Benign multicystic peritoneal mesothelioma is an uncommon lesion arising from the peritoneal mesothelium. It is asymptomatic or presents with unspecific symptoms. Imaging techniques may reveal it, however the final diagnosis can only be made by histopathology. Surgery is the only effective treatment considering its high recurrence rate. We report a 19 years old male with Crohn’s disease. Due to persistent abdominal pain, an abdominal magnetic resonance imaging was performed, showing a complex cystic mass in the lower abdomen. The patient underwent surgery and the lesion was completely resected. The pathological study reported a benign multicystic peritoneal mesothelioma.

  2. Cognitive decline in Parkinson disease.

    PubMed

    Aarsland, Dag; Creese, Byron; Politis, Marios; Chaudhuri, K Ray; Ffytche, Dominic H; Weintraub, Daniel; Ballard, Clive

    2017-04-01

    Dementia is a frequent problem encountered in advanced stages of Parkinson disease (PD). In recent years, research has focused on the pre-dementia stages of cognitive impairment in PD, including mild cognitive impairment (MCI). Several longitudinal studies have shown that MCI is a harbinger of dementia in PD, although the course is variable, and stabilization of cognition - or even reversal to normal cognition - is not uncommon. In addition to limbic and cortical spread of Lewy pathology, several other mechanisms are likely to contribute to cognitive decline in PD, and a variety of biomarker studies, some using novel structural and functional imaging techniques, have documented in vivo brain changes associated with cognitive impairment. The evidence consistently suggests that low cerebrospinal fluid levels of amyloid-β42, a marker of comorbid Alzheimer disease (AD), predict future cognitive decline and dementia in PD. Emerging genetic evidence indicates that in addition to the APOE*ε4 allele (an established risk factor for AD), GBA mutations and SCNA mutations and triplications are associated with cognitive decline in PD, whereas the findings are mixed for MAPT polymorphisms. Cognitive enhancing medications have some effect in PD dementia, but no convincing evidence that progression from MCI to dementia can be delayed or prevented is available, although cognitive training has shown promising results.

  3. Chronic Granulomatous Disease

    PubMed Central

    Bortoletto, Pietro; Lyman, Kyle; Camacho, Andres; Fricchione, Marielle; Khanolkar, Aaruni

    2015-01-01

    Background: Chronic granulomatous disease (CGD) is an uncommon primary immunodeficiency that can be inherited in an X-linked (XL) or an autosomal recessive (AR) manner. We reviewed our large, single-center US experience with CGD. Methods: We reviewed 27 patients at Ann & Robert H. Lurie Children’s Hospital of Chicago from March 1985 to November 2013. Fisher exact test was used to compare differences in categorical variables, and Student t test was used to compare means for continuous variables. Serious infections were defined as those requiring intravenous antibiotics or hospitalization. Results: There were 23 males and 4 females; 19 were XL and 8 were AR. The average age at diagnosis was 3.0 years; 2.1 years for XL and 5.3 years for AR inheritance (P = 0.02). There were 128 serious infections. The most frequent infectious agents were Staphylococcus aureus (n = 13), Serratia (n = 11), Klebsiella (n = 7), Aspergillus (n = 6) and Burkholderia (n = 4). The most common serious infections were pneumonia (n = 38), abscess (n = 32) and lymphadenitis (n = 29). Thirteen patients had granulomatous complications. Five patients were below the 5th percentile for height and 4 were below the 5th percentile for weight. Average length of follow-up after diagnosis was 10.1 years. Twenty-four patients were compliant and maintained on interferon-γ, trimethoprim-sulfamethoxazole and an azole. The serious infection rate was 0.62 per patient-year. Twenty-three patients are alive (1 was lost to follow-up). Conclusions: We present a large, single-center US experience with CGD. Twenty-three of 27 patients are alive after 3276 patient-months of follow-up (1 has been lost to follow-up), and our serious infection rate was 0.62 per patient-year. PMID:26181896

  4. Pigmented Bowen’s disease presenting with a “starburst” pattern

    PubMed Central

    Maione, Vincenzo; Errichetti, Enzo; Roussel, Sara Laurent; Lebbé, Celeste

    2016-01-01

    Pigmented Bowen’s disease (pBD) is an uncommon in situ squamous cell carcinoma of the skin usually presenting as a dark scaly plaque involving chronically exposed sites, which is not uncommonly mistaken for other similar pigmented lesions, such as melanoma, pigmented basal cell carcinoma or seborrheic keratosis [1,2]. Dermoscopy has been proven to improve its diagnosis by showing several findings, i.e., gray/brownish dots in linear arrangement, scales, coiled vessels, focal/multifocal amorphous hypopigmentation and bluish structureless areas [1,2]. However, pBD may sometimes display dermoscopic features which are typical of other pigmented lesions, thus making its recognition quite troublesome despite the use of dermoscopy [1,2]. We report a case of pBD with a “starburst” pattern, discussing its dermoscopic differential diagnosis. PMID:27867748

  5. Epidemiology of Gallbladder Disease: Cholelithiasis and Cancer

    PubMed Central

    Stinton, Laura M.

    2012-01-01

    Diseases of the gallbladder are common and costly. The best epidemiological screening method to accurately determine point prevalence of gallstone disease is ultrasonography. Many risk factors for cholesterol gallstone formation are not modifiable such as ethnic background, increasing age, female gender and family history or genetics. Conversely, the modifiable risks for cholesterol gallstones are obesity, rapid weight loss and a sedentary lifestyle. The rising epidemic of obesity and the metabolic syndrome predicts an escalation of cholesterol gallstone frequency. Risk factors for biliary sludge include pregnancy, drugs like ceftiaxone, octreotide and thiazide diuretics, and total parenteral nutrition or fasting. Diseases like cirrhosis, chronic hemolysis and ileal Crohn's disease are risk factors for black pigment stones. Gallstone disease in childhood, once considered rare, has become increasingly recognized with similar risk factors as those in adults, particularly obesity. Gallbladder cancer is uncommon in developed countries. In the U.S., it accounts for only ~ 5,000 cases per year. Elsewhere, high incidence rates occur in North and South American Indians. Other than ethnicity and female gender, additional risk factors for gallbladder cancer include cholelithiasis, advancing age, chronic inflammatory conditions affecting the gallbladder, congenital biliary abnormalities, and diagnostic confusion over gallbladder polyps. PMID:22570746

  6. 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

  7. Crohn's Disease

    MedlinePlus

    Crohn's disease causes inflammation of the digestive system. It is one of a group of diseases called inflammatory ... small intestine called the ileum. The cause of Crohn's disease is unknown. It may be due to an ...

  8. Pneumococcal Disease

    MedlinePlus

    ... Newsroom Blogs Image Library News Conferences Press Releases Radio Public Service Announcements Real Stories, Real People Share ... National Foundation for Infectious Diseases (NFID) Pneumococcal Disease Radio Public Service Announcement National Foundation for Infectious Diseases ( ...

  9. Alzheimer disease

    MedlinePlus

    ... this page: //medlineplus.gov/ency/article/000760.htm Alzheimer disease To use the sharing features on this page, ... of brain function that occurs with certain diseases. Alzheimer disease is one form of dementia. It affects memory, ...

  10. Lung disease

    MedlinePlus

    ... they can't breathe deeply. Pulmonary fibrosis and sarcoidosis are examples of lung tissue disease. Lung circulation ... tuberculosis Pulmonary veno-occlusive disease Rheumatoid lung disease Sarcoidosis Simple pulmonary eosinophilia Patient Instructions Chronic obstructive pulmonary ...

  11. Huntington's Disease

    MedlinePlus

    Huntington's disease (HD) is an inherited disease that causes certain nerve cells in the brain to waste away. ... express emotions. If one of your parents has Huntington's disease, you have a 50 percent chance of getting ...

  12. Kawasaki Disease

    MedlinePlus

    ... page from the NHLBI on Twitter. What Is Kawasaki Disease? Kawasaki (KAH-wah-SAH-ke) disease is a ... condition involves inflammation of the blood vessels. In Kawasaki disease, the walls of the blood vessels throughout the ...

  13. 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 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 chronic kidney disease in later childhood or in adult life. Children born early or who are small-for-date newborns have a relatively increased risk for the development of chronic kidney disease 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 chronic kidney disease in childhood; there is evidence that children fare better than adults if they receive kidney replacement therapy including dialysis and transplant, whereas 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.

  14. Calcium Apatite Deposition Disease: Diagnosis and Treatment

    PubMed Central

    2016-01-01

    Calcium apatite deposition disease (CADD) is a common entity characterized by deposition of calcium apatite crystals within and around connective tissues, usually in a periarticular location. CADD most frequently involves the rotator cuff. However, it can theoretically occur in almost any location in the musculoskeletal system, and many different locations of CADD have been described. When CADD presents in an unexpected location it can pose a diagnostic challenge, particularly when associated with pain or swelling, and can be confused with other pathologic processes, such as infection or malignancy. However, CADD has typical imaging characteristics that usually allows for a correct diagnosis to be made without additional imaging or laboratory workup, even when presenting in unusual locations. This is a review of the common and uncommon presentations of CADD in the appendicular and axial skeleton as well as an updated review of pathophysiology of CADD and current treatments. PMID:28042481

  15. Scrotal Lymphedema Praecox: Disease and Treatment

    PubMed Central

    Anderson, Bernard B.; Cadogan, C.A. Mark

    1982-01-01

    Lymphedema of the scrotum and penis represents a debilitating but uncommon entity in countries spared of endemic filariasis. The clinical presentation and surgical management of one patient with idiopathic lymphedema praecox is discussed. A posterior based scrotal skin flap and a split thickness skin graft were used to reconstruct the scrotum and resurface the penis following radical excision of the edematous tissue. Limitation of the disease to the superficial tissues and relative sparing of the posterior scrotal skin represent the anatomic basis for success with this approach. The more deforming therapeutic alternative of excision of all lymphedematous tissue with transfer of the testes to the thigh and split thickness skin grafting to the exposed area would probably be best reserved for recurrence. ImagesFigure 1Figure 3 PMID:7120475

  16. 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

  17. Fatal Toxic Megacolon in a Child of Hirschsprung Disease

    PubMed Central

    Sathe, Pragati A; Taware, Annapurna C; Surve, Ketaki M

    2016-01-01

    Hirschsprung disease (HD) in late childhood is uncommon and often undiagnosed or misdiagnosed. However, in a patient with Hirschsprung disease, of greater significance is the occurrence of life threatening enterocolitis. In its more severe form, this is associated with gross dilatation of the colon and profound toxaemia, the combination being termed toxic megacolon. Because of its relative rarity, we report a case of 10-year-old child who had a history of chronic constipation for nine years. He later developed complications and presented to the emergency department with toxic megacolon, a rare occurrence due to neglected constipation. Though patient’s condition was unstable, laparotomy with right transverse colostomy was performed after appropriate intravenous rehydration. The dilated bowel loops were decompressed and intraoperatively multiple site biopsies were done. Histopathological examination of transition zone biopsy revealed absence of ganglion cells suggestive of Hirschsprung disease. But few hours later patient’s condition worsened and he succumbed. PMID:28208866

  18. Early gastric cancer in Menetrier’s disease

    PubMed Central

    Remes-Troche, Jose Maria; Zapata-Colindres, Juan Carlos; Starkman, Ivethe; De Anda, Jazmin; Arista-Nasr, Julian; Valdovinos-Diaz, Miguel Angel

    2009-01-01

    Uncommon conditions such as pernicious anaemia and hypertrophic gastropathies have been considered as risk factors for gastric cancer; however, the exact increase in risk is unknown. Menetrier’s disease is a rare hyperproliferative disorder of the stomach caused by an overexpression of tumour growth factor α, a ligand for the tyrokinase epidermal growth factor receptor, resulting in a selective expansion of surface mucous cells in the body and fundus of the stomach. There have been nearly 200 cases of Menetrier’s disease reported in the literature yet less than 15 have been associated with gastric adenocarcinoma. Here, we report an early stage gastric adenocarcinoma detected incidentally in a patient recently diagnosed with Menetrier’s disease. PMID:21686802

  19. Non-Hodgkin's lymphoma associated with Gaucher's disease.

    PubMed

    Perales, M; Cervantes, F; Cobo, F; Montserrat, E

    1998-11-01

    Gaucher's disease is an uncommon disorder which has been reported to be associated with an increased risk of lymphoproliferative disorders, including Non-Hodgkin's lymphoma (NHL). A new instance of such an association is described here. This was a 58 year-old-patient with adult type I Gaucher's disease who, one and a half year after the above diagnosis, presented with supraclavicular lymphadenopathy, massive splenomegaly, prominent retroperitoneal lymphadenopathy and increased serum LDH levels. This led to the diagnosis of large-cell NHL of B-cell type, successfully treated with chemotherapy. The previously published cases of Gaucher's disease associated with NHL as well as the possible mechanisms leading to this association are reviewed here.

  20. Pulmonary Kaposi Sarcoma: An Uncommon Cause of Respiratory Failure in the Era of Highly Active Antiretroviral Therapy—Case Report and Review of the Literature

    PubMed Central

    Hemmings, Stefan; Paul, Yonette; Habtegebriel, Yordanis; Polk, Octavius

    2016-01-01

    Kaposi Sarcoma (KS) is the most common malignancy associated with Acquired Immune Deficiency Syndrome (AIDS) and is caused by Human Herpesvirus 8 (HHV 8) or Kaposi Sarcoma Herpesvirus (KSHV). In about 90% of cases Kaposi Sarcoma is associated with cutaneous lesions; however visceral disease can occur in the absence of cutaneous involvement. In the era of Highly Active Antiretroviral Therapy (HAART), the incidence of KS has declined. Clinical features of pulmonary KS might be difficult to distinguish from pneumonia in the immunocompromised patients and could lead to diagnostic challenges. First-line treatment of KS is with HAART and the incidence has declined with its use. Systemic chemotherapy may play a role depending on the extent of the disease. We report the case of a young man who presented with pulmonary symptoms and was later found to have pulmonary KS. Interestingly this diagnosis was made in the absence of the classic skin lesions. His disease was complicated by progressive respiratory failure and he eventually died. PMID:27872774

  1. Pure red cell aplasia due to azathioprine therapy for Crohn's disease.

    PubMed

    Kamath, Nagesh; Pai, C Ganesh; Deltombe, Thylbert

    2016-01-01

    Various mechanisms contribute to anemia in inflammatory bowel diseases (IBD), drug-related causes being less frequent. The hematological and other adverse events of azathioprine (AZA) therapy are well documented, but drug-associated pure red cell aplasia (PRCA) is an uncommon event. We hereby describe two cases of AZA-associated PRCA in patients with Crohn's disease. The diagnosis was supported by pathological reports, and prompt hematological recovery was seen with discontinuation of the offending drug. This report highlights the need to consider this rare entity in IBD patients in appropriate settings and for adopting adequate precautionary measures.

  2. Type 1 autoimmune pancreatitis: case scenario and review of the disease.

    PubMed

    Donet, Jean A; Czul, Frank; Peña, Nathalie A; Barkin, Jamie S

    2016-01-01

    Autoimmune pancreatitis (AIP) is an uncommon disease that represents a diagnostic challenge unless it is considered as a cause of acute pancreatitis, pancreatic exocrine insufficiency and a pancreatic mass. This entity is under diagnosed and successful medical therapy is available. In this paper, we will describe a case of a 59 year-old, Hispanic woman diagnosed with autoimmune pancreatitis, a disease previously believed to affect typically older men. We will review the definition, types, clinical manifestations, radiological features, serology, histopathological findings, treatment strategies and diagnostic criteria of autoimmune pancreatitis.

  3. 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).

  4. Severe respiratory syncytial virus (RSV) infection in infants with neuromuscular diseases and immune deficiency syndromes.

    PubMed

    Resch, Bernhard; Manzoni, Paolo; Lanari, Marcello

    2009-09-01

    Respiratory syncytial virus (RSV) is an important cause of lower respiratory tract infection (LRTI) in infants and children. There is growing evidence of severe RSV disease in infants with neuromuscular diseases and immune deficiency syndromes. Factors predisposing to a more severe course of RSV disease in neuromuscular diseases include the impaired ability to clear secretions from the airways due to ineffective cough, respiratory muscle weakness, high prevalence of gastro-oesophageal reflux and swallowing dysfunction which leads to aspiration. Similarly, pulmonary disease is a common presenting feature and complication of T-cell immunodeficiency. Infants with severe congenital and acquired immune deficiency syndromes may demonstrate prolonged viral shedding in RSV LRTI and are reported to have increased morbidity and mortality associated with RSV infection. Although not indicated in most guideline statements, palivizumab prophylaxis for these uncommon underlying conditions is under consideration by clinicians. Prospective studies are needed to determine the burden of RSV disease in these children.

  5. Heart Diseases

    MedlinePlus

    ... you're like most people, you think that heart disease is a problem for others. But heart disease is the number one killer in the ... of disability. There are many different forms of heart disease. The most common cause of heart disease ...

  6. Columnaris Disease

    Technology Transfer Automated Retrieval System (TEKTRAN)

    Columnaris disease is caused by the Gram-negative bacterium, Flavobacterium columnare. The disease was first described in 1917-1919 in the United States and the bacterium was not successfully isolated and grown in the laboratory until 1944. Columnaris disease continues to be a prevalent disease of...

  7. 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

  8. [Nonpharmacological treatment procedures for Parkinson's disease].

    PubMed

    Witt, K; Kalbe, E; Erasmi, R; Ebersbach, G

    2017-03-01

    Nonpharmacological treatment strategies in Parkinson' disease include heterogeneous treatment modalities, such as physiotherapy, occupational therapy, speech therapy, cognitive training and deep brain stimulation as well as noninvasive brain stimulation strategies. Even in the early stages of Parkinson's disease nonpharmacological interventions, such as active exercise therapy and speech therapy can be indicated taking the individual symptoms of a patient into account. Mild cognitive deficits are frequently detected in the course of the disease and progression of these disorders to dementia in the advanced stages of the disease is not uncommon. The starting point for a cognitive training, training strategy and training frequency is unknown and currently under investigation. Deep brain stimulation is an established treatment modality, which should be considered when motor fluctuations cannot be adequately controlled by pharmacological treatment. This therapeutic option depends on patient-specific needs and has to be managed by a multiprofessional team. Non-invasive neurostimulation techniques, such as transcranial magnetic stimulation and transcranial direct current stimulation are experimental tools and cannot currently be recommended for general use.

  9. Screening for thyroid disease in pregnancy.

    PubMed

    Lazarus, J H; Premawardhana, L D K E

    2005-05-01

    Although gestational hyperthyroidism is uncommon (0.2%), hypothyroidism (autoimmune disease or suboptimal iodine intake) occurs in 2.5% of women and is predictive of reduced neonatal and child neuropsychological development and maternal obstetric complications. Postpartum thyroid dysfunction (PPTD) occurs in 5-9% of women and is associated with antithyroid peroxidase antibodies (antiTPOAb) in 10% of women in early pregnancy. Therefore, screening for thyroid dysfunction in pregnancy should be considered. T4 and thyroid stimulating hormone measurements could be used to screen for hypothyroidism, which would require levothyroxine intervention treatment. T4 supply is crucial to fetal nervous system maturation; currently, the recommended daily iodine intake is 200 microg, and this is not always achieved, even in the UK. At present, a randomised prospective trial is ongoing to provide the evidence base for this screening strategy. Meanwhile, it is reasonable to (a) optimise iodine nutrition during pregnancy; (b) ascertain women with known thyroid disease; (c) identify women at increased risk of thyroid disease-for example, those with other autoimmune diseases. PPTD can be predicted by measurement of antiTPOAb in early gestation.

  10. 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.

  11. 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

  12. Invasive amebiasis and ameboma formation presenting as a rectal mass: An uncommon case of malignant masquerade at a western medical center

    PubMed Central

    Hardin, Rosemarie E; Ferzli, George S; Zenilman, Michael E; Gadangi, Pratap K; Bowne, Wilbur B

    2007-01-01

    A 54-year-old man presented with rectal pain and bleeding secondary to ulcerated, necrotic rectal and cecal masses that resembled colorectal carcinoma upon colonoscopy. These masses were later determined to be benign amebomas caused by invasive Entamoeba histolytica, which regressed completely with medical therapy. In Western countries, the occurrence of invasive protozoan infection with formation of amebomas is very rare and can mistakenly masquerade as a neoplasm. Not surprisingly, there have been very few cases reported of this clinical entity within the United States. Moreover, we report a patient that had an extremely rare occurrence of two synchronous lesions, one involving the rectum and the other situated in the cecum. We review the current literature on the pathogenesis of invasive E. histolytica infection and ameboma formation, as well as management of this rare disease entity at a western medical center. PMID:17948943

  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. [Anarthria, progressive apraxia and extrapyramidal syndrome: an uncommon clinical form of corticobasal degeneration? A case studied by HMPAO Tc99m single-photon emission tomography].

    PubMed

    Fayet, G; Vercelletto, M; Bertout, C; De Kersaint-Gilly, A; Fève, J R

    1995-04-01

    A 48-year-old man presented with impaired joint movement and buccofacial apraxia. The disease progressed for six years associating an akineto-hypertonic syndrome, marked anarthria, saliva incontinence, bi-opercular syndrome, bucco-facial apraxia, severe global gestual apraxia and a frontal syndrom. Oculo-motricity and gait were normal. Magnetic resonance imaging of the brain demonstrated fronto-parietal atrophy and HMPAO Tc99 tomography revealed hypoperfusion of the cortex clearly predominating in the left parietal region. These particular findings with predominantly intense joint involvement is similar to the clinical picture in corticobasal degeneration--subcortical signs (progressively uncontrollable hypertonia) together with cortical signs (severe gestual apraxia). The neuroradiological imaging and functional results also suggest a degenerative process.

  15. Crohn's disease and acute pancreatitis. A review of literature.

    PubMed

    Jasdanwala, Sarfaraz; Babyatsky, Mark

    2015-03-20

    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.

  16. [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.

  17. 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

  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.

  19. 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 ...

  20. 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 ...

  1. 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 ...

  2. 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, ...

  3. 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 ...

  4. 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 ...

  5. 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 ...

  6. 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 ...

  7. 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 ...

  8. Kidney Diseases

    MedlinePlus

    ... Infections Your doctor can do blood and urine tests to check if you have kidney disease. If your kidneys fail, you will need dialysis or a kidney transplant. NIH: National Institute of Diabetes and Digestive and Kidney Diseases

  9. Celiac Disease

    MedlinePlus

    ... small intestine. People with celiac disease cannot eat gluten, a protein found in wheat, barley, and rye. ... Treatment Doctors treat celiac disease by prescribing a gluten-free diet. Symptoms significantly improve for most people ...

  10. 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 ...

  11. Graves' Disease

    MedlinePlus

    ... Versions PDF Version (198 KB) Additional Links Hyperthyroidism Pregnancy and Thyroid Disease Thyroid Tests This content is provided as a service of the National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK), part of the National Institutes of Health. ...

  12. Hashimoto's Disease

    MedlinePlus

    ... disease often leads to reduced thyroid function, or hypothyroidism. Hypothyroidism is a disorder that occurs when the thyroid ... Hashimoto’s disease is the most common cause of hypothyroidism in the United States. 1 Read more in ...

  13. Menkes Disease

    MedlinePlus

    ... examining the genetic origins of Menkes disease and studying the effectiveness of early copper injections and gene-replacement therapies for treating the disease. Research also includes work on a universal newborn screening test for newborns. ​​​ ...

  14. 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 ( ...

  15. Gaucher's Disease

    MedlinePlus

    ... interfere with your blood's ability to clot. An enzyme that breaks down these fatty substances doesn't ... people who have Gaucher's disease. Treatment often includes enzyme replacement therapy. An inherited disorder, Gaucher's disease is ...

  16. 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 ...

  17. Kidney Disease

    MedlinePlus

    ... Loss Surgery? A Week of Healthy Breakfasts Shyness 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 ...

  18. Lyme disease

    MedlinePlus

    ... up the bacteria when they bite mice or deer that are infected with B burgdorferi . You can ... syndrome Images Lyme disease organism, Borrelia burgdorferi Tick, deer engorged on the skin Lyme disease - Borrelia burgdorferi ...

  19. Refsum Disease

    MedlinePlus

    ... night blindness due to degeneration of the retina (retinitis pigmentosa). If the disease progresses, other symptoms may include ... night blindness due to degeneration of the retina (retinitis pigmentosa). If the disease progresses, other symptoms may include ...

  20. Behcet's Disease

    MedlinePlus

    ... neurological disorders such as Behcet's disease. The National Human Genome Research Institute, another Institute of the National ... neurological disorders such as Behcet's disease. The National Human Genome Research Institute, another Institute of the National ...

  1. Hirschsprung Disease

    MedlinePlus

    ... approximately one in 5,000 newborns. Children with Down syndrome and other medical problems, such as congenital heart ... For example, about one in 100 children with Down syndrome also has Hirschsprung disease. Hirschsprung disease is congenital, ...

  2. Farber's Disease

    MedlinePlus

    ... The disease occurs when both parents carry and pass on the defective gene that regulates the protein ... The disease occurs when both parents carry and pass on the defective gene that regulates the protein ...

  3. Canavan disease

    MedlinePlus

    ... if your child has any symptoms of Canavan disease. Prevention Genetic counseling is recommended for people who want to have children and have a family history of Canavan disease. Counseling should be considered if both parents are ...

  4. Kawasaki disease

    MedlinePlus

    ... this page: //medlineplus.gov/ency/article/000989.htm Kawasaki disease To use the sharing features on this page, please enable JavaScript. Kawasaki disease is a rare condition that involves inflammation of ...

  5. 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 ...

  6. Kidney Disease

    MedlinePlus

    ... Loss Surgery? A Week of Healthy Breakfasts Shyness Kidney Disease KidsHealth > For Teens > Kidney Disease A A ... Syndrome Coping With Kidney Conditions What Do the Kidneys Do? You might never think much about some ...

  7. Addison disease

    MedlinePlus

    ... amounts of some or all of its hormones ( hypopituitarism ) Autoimmune disorder that affects the nerves and the ... disease) Dermatitis herpetiformis Diabetes Graves disease Hyperthyroidism Hypoparathyroidism Hypopituitarism Immune response Myasthenia gravis Ovarian hypofunction Pernicious anemia ...

  8. Sensitivities to various epidermal growth factor receptor-tyrosine kinase inhibitors of uncommon epidermal growth factor receptor mutations L861Q and S768I: What is the optimal epidermal growth factor receptor-tyrosine kinase inhibitor?

    PubMed

    Banno, Eri; Togashi, Yosuke; Nakamura, Yu; Chiba, Masato; Kobayashi, Yoshihisa; Hayashi, Hidetoshi; Terashima, Masato; de Velasco, Marco A; Sakai, Kazuko; Fujita, Yoshihiko; Mitsudomi, Tetsuya; Nishio, Kazuto

    2016-08-01

    Most patients with non-small cell lung cancer (NSCLC) harboring common epidermal growth factor receptor (EGFR) mutations, such as deletions in exon 19 or the L858R mutation in exon 21, respond dramatically to EGFR tyrosine kinase inhibitors (EGFR-TKI), and their sensitivities to various EGFR-TKI have been well characterized. Our previous article showed the in vitro sensitivities of EGFR exon 18 mutations to EGFR-TKI, but little information regarding the sensitivities of other uncommon EGFR mutations is available. First, stable transfectant Ba/F3 cell lines harboring EGFR L858R (Ba/F3-L858R), L861Q (Ba/F3-L861Q) or S768I (Ba/F3-S768I) mutations were created and their drug sensitivities to various EGFR-TKI were examined. Both the Ba/F3-L861Q and Ba/F3-S768I cell lines were less sensitive to erlotinib, compared with the Ba/F3-L858R cell line, but their sensitivities to afatinib were similar to that of the Ba/F3-L858R cell line. The Ba/F3-L861Q cell line was similarly sensitive and the Ba/F3-S768I cell line was less sensitive to osimertinib, compared with the Ba/F3-L858R cell line. The results of western blot analyses were consistent with these sensitivities. Next, similar experiments were also performed using the KYSE270 (L861Q) and KYSE 450 (S768I) cell lines, and their results were compatible with those of the transfectant Ba/F3 cell lines. Our findings suggest that NSCLC harboring the EGFR L861Q mutation might be sensitive to afatinib or osimertinib and that NSCLC harboring the EGFR S768I mutation might be sensitive to afatinib. Overall, afatinib might be the optimal EGFR-TKI against these uncommon EGFR mutations.

  9. 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.

  10. 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…

  11. Kawasaki disease

    PubMed Central

    Kawasaki, Tomisaku

    2006-01-01

    Short history of Kawasaki disease, clinical features (principal symptoms and other significant symptoms or findings), diagnosis, cardiovascular involvement, epidemiology. Pathological features (lesion of vessels and lesion of organs exclusive of vessels), comparison between infantile periarteritis nodosa (IPN)/Kawasaki disease and classic periarteritis nodosa (CPN), etiology, treatment and management of Kawasaki disease are described. PMID:25792773

  12. Legionnaires' Disease

    MedlinePlus

    ... disease is caused by a bacterium known as legionella. You can't catch legionnaires' disease from person-to-person contact. Instead, most people ... with weakened immune systems are particularly susceptible to legionnaires' disease. The legionella bacterium also causes Pontiac fever, a milder illness ...

  13. Kawasaki disease.

    PubMed

    Kawasaki, Tomisaku

    2006-04-01

    Short history of Kawasaki disease, clinical features (principal symptoms and other significant symptoms or findings), diagnosis, cardiovascular involvement, epidemiology. Pathological features (lesion of vessels and lesion of organs exclusive of vessels), comparison between infantile periarteritis nodosa (IPN)/Kawasaki disease and classic periarteritis nodosa (CPN), etiology, treatment and management of Kawasaki disease are described.

  14. 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…

  15. 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

  16. Growth hormone-releasing hormone-producing pancreatic neuroendocrine tumor in a multiple endocrine neoplasia type 1 family with an uncommon phenotype.

    PubMed

    Sala, Elisa; Ferrante, Emanuele; Verrua, Elisa; Malchiodi, Elena; Mantovani, Giovanna; Filopanti, Marcello; Ferrero, Stefano; Pietrabissa, Andrea; Vanoli, Alessandro; La Rosa, Stefano; Zatelli, Maria C; Beck-Peccoz, Paolo; Verga, Uberta

    2013-07-01

    The objective of this study was to describe a multiple endocrine neoplasia type 1 (MEN1) family characterized by primary hyperparathyroidism, in association with acromegaly because of ectopic growth hormone-releasing hormone (GHRH) secretion by a pancreatic neuroendocrine tumor in a young man and with a bronchial carcinoid in his mother. We investigate the clinical, radiological imaging, histopathologic findings, and therapy. An 18-year-old man successfully underwent subtotal parathyroidectomy for primary hyperparathyroidism. A subsequent genetic analysis showed a MEN1 gene mutation. Three years later, acromegaly because of ectopic GHRH secretion was diagnosed (pituitary MRI negative and elevated GHRH levels). A search for an ectopic tumor was unsuccessful and somatostatin analog therapy was started. Successively, scintigraphy with somatostatin analogs (68-Ga-DOTATOC-PET) showed three focal areas in the pancreatic tail. Distal pancreatectomy showed multiple pancreatic neuroendocrine tumors and hormonal status was normalized. Afterwards, the evaluation of the patient's mother, carrying the same mutation, indicated a primary hyperparathyroidism and a 4 cm lung mass. The patient underwent subtotal pneumonectomy and the histological analysis was consistent with the diagnosis of a typical bronchial carcinoid. In conclusion, an atypical phenotype may be recorded in MEN1 families, thus emphasizing the importance of the new imaging and surgical techniques in the diagnosis and treatment of such a rare disease.

  17. Histopathology of vaccine-preventable diseases.

    PubMed

    Solomon, Isaac H; Milner, Danny A

    2017-01-01

    The widespread use of vaccines has been one of the most important medical advances in the last century, saving trillions of dollars and millions of lives. Despite local eradication of some infections, travellers returning from affected areas may cause outbreaks through reintroduction of pathogens to individuals who are unable to receive vaccines for medical reasons or who have declined vaccination for non-medical reasons. Infections that would otherwise be uncommonly encountered by anatomical pathologists should therefore remain in the differential diagnosis for immunocompromised and unvaccinated patients. We review here the histopathological features and ancillary testing required for diagnosis of all illnesses preventable by vaccines that are currently approved for use by the United States Food and Drug Administration, organized into three sections: viral infections preventable by routine vaccination (measles, mumps, rubella, varicella, rotavirus, polio, hepatitis A, hepatitis B, influenza, and human papillomavirus), bacterial infections preventable by routine vaccination (diptheria, tetanus, pertussis, Haemophilus influenzae, pneumococcus, and meningococcus), and infections with specific vaccine indications (anthrax, typhoid, tuberculosis, rabies, Japanese encephalitis, yellow fever, smallpox, and adenovirus). Histopathology for the less common diseases is illustrated in this review. Awareness of a patient's immune and/or vaccine status is a crucial component of the infectious disease work-up, especially for rare diseases that may not otherwise be seen.

  18. Answer please. Blount's disease: tibia vara.

    PubMed

    Marine, J M; DiSimone, R E; Clancy, M J

    1989-11-01

    Infantile tibia vara, although uncommon compared to normal physiologic bowing, is significant due to the resultant progressive deformities if not diagnosed early. The key radiographic finding is medial tibial metaphyseal beaking and fragmentation. Although the etiology is unclear, it appears to be an acquired growth disturbance of the proximal medial tibial epiphysis, ossification center, and metaphysis rather than any type of avascular necrosis. The Langenskiöld six-stage classification is useful for the diagnostic, prognostic, and treatment staging of the disease. The adolescent form is less common and less severe with only slight irregular thickening of the physis present on radiograph. The MDA appears to be the most reproducible method for measuring angular deformities in both variants of the disease. Treatment of the infantile stages I or II consists of observation and bracing. Stage III or IV disease in children over age 3 years with more than 5 degrees of varus angulation should be treated with corrective valgus osteotomy. Stages V or VI may require repeated surgical treatment with multiple osteotomies and possible contralateral epiphysiodesis. The adolescent form frequently requires surgery when there is significant physical impairment related to the severe genu varum.

  19. A New Strategy to Address Loss of Submarine Qualifications in Submariners Who are Helicobacter Pylori Positive and Diagnosed with Peptic Ulcer Disease: Background to the Change in Policy.

    DTIC Science & Technology

    2007-11-02

    peptic ulcer disease has been changed. FINDINGS: The medical literature shows that infection with Helicobacter pylori is causally related to the...drugs such as ibuprofen (Motrin, Advil, etc). Repeated studies have demonstrated that eradication of Helicobacter pylori infection in patients with...duodenal, gastric, and complicated ulcers. Re-infection with Helicobacter pylori is uncommon in western countries, with rates ranging between zero and

  20. T-Cell Non-Hodgkin Lymphomas: Spectrum of Disease and the Role of Imaging in the Management of Common Subtypes

    PubMed Central

    McIntosh, Lacey; Braschi-Amirfarzan, Marta; Shinagare, Atul B.; Krajewski, Katherine M.

    2017-01-01

    T-cell non-Hodgkin lymphomas (NHLs) are biologically diverse, uncommon malignancies characterized by a spectrum of imaging findings according to subtype. The purpose of this review is to describe the common subtypes of T-cell NHL, highlight important differences between cutaneous, various peripheral and precursor subtypes, and summarize imaging features and the role of imaging in the management of this diverse set of diseases. PMID:28096719

  1. Inflammatory Bowel Disease in Children of Middle Eastern Descent

    PubMed Central

    Naidoo, Christina Mai Ying; Leach, Steven T.; Day, Andrew S.; Lemberg, Daniel A.

    2014-01-01

    Increasing rates of inflammatory bowel disease (IBD) are now seen in populations where it was once uncommon. The pattern of IBD in children of Middle Eastern descent in Australia has never been reported. This study aimed to investigate the burden of IBD in children of Middle Eastern descent at the Sydney Children's Hospital, Randwick (SCHR). The SCHR IBD database was used to identify patients of self-reported Middle Eastern ethnicity diagnosed between 1987 and 2011. Demographic, diagnosis, and management data was collected for all Middle Eastern children and an age and gender matched non-Middle Eastern IBD control group. Twenty-four patients of Middle Eastern descent were identified. Middle Eastern Crohn's disease patients had higher disease activity at diagnosis, higher use of thiopurines, and less restricted colonic disease than controls. Although there were limitations with this dataset, we estimated a higher prevalence of IBD in Middle Eastern children and they had a different disease phenotype and behavior compared to the control group, with less disease restricted to the colon and likely a more active disease course. PMID:24987422

  2. Averting the legacy of kidney disease: focus on childhood

    PubMed Central

    Ingelfinger, Julie R; 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 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:28031959

  3. 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

  4. 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

  5. Averting the Legacy of Kidney Disease--Focus on Childhood.

    PubMed

    Ingelfinger, Julie R; 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 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.

  6. C - Reactive Protein, Inflammatory Conditions and Cardiovascular Disease Risk

    PubMed Central

    Dhingra, Ravi; Gona, Philimon; Nam, Byung-Ho; D’Agostino, Ralph B.; Wilson, Peter W. F.; Benjamin, Emelia J.; O’Donnell, Christopher J.

    2007-01-01

    Background It is uncertain to what extent high C-reactive protein (CRP) concentrations reflect the presence of inflammatory conditions in the community. Methods We evaluated 3782 Framingham participants (mean age 55 years; 52% women) free of baseline cardiovascular disease. Logistic regression models examined the prevalence of common inflammatory conditions by CRP categories whereas a separate matched case-referent analysis evaluated the prevalence of uncommon inflammatory conditions. Cox models were used to assess the influence of common inflammatory conditions on relations between CRP and incident cardiovascular disease. Results Common inflammatory conditions were reported by nearly half of the participants; these individuals were more likely to have markedly-high CRP concentrations (>10mg/L, P for trend=0.001). In multivariable models, there were increased odds of having at least one common inflammatory condition with CRP concentrations of 1–3.0, 3.01–10, and >10mg/L, compared to the referent category (<1mg/L); the respective odds ratios with 95% confidence intervals were 1.41 (1.07–1.86), 1.45 (1.07–2.98) and 1.64 (1.09–2.47) in men, and 1.08 (0.82–1.43), 1.07 (0.80–1.44) and 1.38 (0.97–1.96) in women. In case-referent analyses, uncommon inflammatory conditions were more common in individuals with CRP >10mg/L compared to those with CRP <1mg/L (12.1% versus 6.6%; P=0.0001). In multivariable models, higher CRP categories were not associated with incident cardiovascular disease, and with additional adjustment for inflammatory conditions, results remained unchanged. Conclusion There is high prevalence of common and uncommon inflammatory conditions in individuals with high CRP concentrations. Higher CRP concentrations should be interpreted with caution in cardiovascular disease risk assessment. PMID:18060926

  7. Malignant tumors of the larynx: Clinicopathologic profile and implication for late disease presentation

    PubMed Central

    Fasunla, Ayotunde James; Ogundoyin, Oluwole Agboola; Onakoya, Paul Adekunle; Nwaorgu, Onyekwere George

    2016-01-01

    Background: Malignant laryngeal tumors are uncommon. Late presentation of the disease may worsen management outcomes. We described the epidemiologic, clinicopathologic profile, and management outcomes of laryngeal tumors in a tertiary health institution in Nigeria. Materials and Methods: An 11-year retrospective review of medical records of patients managed for malignant laryngeal tumor at the University College Hospital, Ibadan, Nigeria, was performed. Results: There were 97 patients comprising 74 (76.3%) males and 23 (23.7%) females with a mean age of 60.48 ± 12.15 years. The mean duration of illness was 7.3 ± 3.8 months. History of cigarette smoking and alcohol consumption was in 2.1% and 14.4% patients, respectively. The most common clinical presentations were hoarseness, cough, and dyspnea. Transglottis (91.8%) was the most common anatomic tumor location and 92.8% patients presented in advanced disease stage. Four histologic types were identified with squamous cell carcinoma accounting for 96.9%. About 92% patients had emergency tracheostomy and 56 (57.7%) patients had total laryngectomy. The postoperative complications were pharyngocutaneous fistula (5.2%) and peristomal recurrence (3.1%). The 5-year survival rate was 52.5%. Conclusions: Malignant laryngeal tumors are uncommon, but more females are getting the disease. Squamous cell carcinoma is the most common histologic variant. Late stage disease presentation and initial wrong diagnosis contributed to the poor management outcome. PMID:27833247

  8. [Recurrent effusive pericarditis in the course of adult-onset Still's disease--case reports of two patients].

    PubMed

    Bilska, Anna; Wilińska, Ewelina; Szturmowicz, Monika; Wawrzyńska, Liliana; Fijałkowska, Anna; Oniszh, Karina; Swiatowiec, Andrzej; Wsół, Agnieszka; Torbicki, Adam

    2011-01-01

    Pericardial effusion is caused by various pathological agents. In differential diagnosis infectious as well as non-infectious factors have to be considered. Adult-onset Still disease (AOSD)--relatively uncommon systemic inflammatory disorder of unknown etiology--is among possible diagnosis. The disease typically affects patients in the age between 16-35 years and is characterized by spiking fever, arthralgia, evanescent salmon rash with other abnormalities including pharingitis, serositis (especially pleuritis and pericarditis) and leucocytosis as well as increased serum levels of inflammatory indicators. We present two patients with recurrent pericardial effusion in the course of AOSD.

  9. Intrathoracic tumor of the chest wall: A case of Castleman's disease mimicking myositis of the lower extremities.

    PubMed

    Tampakis, Athanasios; Tampaki, Ekaterini Christina; Daikeler, Thomas; Lardinois, Didier

    2017-01-10

    Castleman's disease refers to a group of uncommon lymphoproliferative disorders which exhibit common lymph-node histological features. A 72-year-old male patient presented with signs of lower limb myositis. Detailed work-up focused initially on evaluating hematological malignancies, the presence of a solid tumor, autoimmune diseases and degenerative disorders of the peripheral nerves. Finally, a PET-CT scan was performed to exclude paraneoplastic manifestations of a primary tumor, revealing  however a tumor of the thoracic wall. The definite histological diagnosis confirmed the presence of unicentric Castleman's disease of the chest wall. The manifestations of the present case suggest that a systemic inflammation might occur in the unicentric form of the disease possibly due to cytokine hypersecretion. The unicentric manifestation of the disease should be well distinguished from the multicentric appearance. Unicentric disease is a surgical condition and warrants a follow-up based on the systemic inflammation that might occur.

  10. Unusual Manifestations of Monoclonal Gammopathy: I. Ocular Disease.

    PubMed

    Balderman, Sophia R; Lichtman, Marshall A

    2015-07-30

    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.

  11. Gaucher Disease

    PubMed Central

    Nagral, Aabha

    2014-01-01

    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

  12. 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.

  13. Legionnaire disease

    MedlinePlus

    ... have any type of breathing problem. Alternative Names Legionella pneumonia; Pontiac fever; Legionellosis Images Legionnaires' disease organism, legionella References Edelstein PH, Roy CR. Legionnaires' ...

  14. 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.

  15. Mayo Clinic Cancer Center Experience of Metastatic Extramammary Paget Disease 1998-2012

    PubMed Central

    Padrnos, Leslie; Karlin, Nina; Halfdanarson, Thorvardur R.

    2016-01-01

    Extramammary Paget disease (EMPD) is a rare cutaneous malignancy. The most common presentation of EMPD is the vulva followed by perianal involvement. Most cases are localized to the dermis with treatment focused on surgery, topical treatment or radiotherapy. Recurrence is frequent despite therapies utilized. Metastatic extramammary Paget disease is uncommon and, as such, standard treatment guidelines do not exist. This study sought to evaluate the treatment regimens and outcomes of patients treated at a Mayo Clinic Center from 1998-2012. Cancer registry inquiry revealed 261 patients with report advanced Paget disease during these years. Ten cases of metastatic EPMD were identified with sufficient documentation for review. This review reveals support for utilizing localized radiation therapy for bulky disease sequentially with systemic chemotherapy consisting of carboplatin and paclitaxel or irinotecan. Further studies are necessary to define the optimal treatment regimen. PMID:27994832

  16. [First case of primary IgA glomerulonephritis (Berger's disease) in Senegal].

    PubMed

    Diouf, B; Diao, M; Niang, A; Ka, E F; Moreira Diop, T

    1999-01-01

    Berger's disease or IgA glomerulonephritis is the most common glomerular nephropathy in Europe and represent a rare event in blacks. Here, we describe the case of a 43 years old black Senegalese whose disease was discovered while investigating a persistent proteinuria with high blood pressure and chronic renal failure, but without hematuria. We point out the uncommon feature of this clinical presentation and the importance of bad prognostic factors presented by this patient. We obtained a good outcome by means of converting enzyme inhibitors and corticosteroid therapies: regression of renal failure and normalization of blood pressure. The generalization of renal biopsy practice would lead to a better knowledge of the incidence of this disease among Senegalese people. Indeed, renal biopsy is the main tool to diagnose glomerulonephritis and subsequently adapt the therapy aimed at preventing the possible evolution to end stage renal disease.

  17. [Pulmonary artery aneurysms in Behçet's disease: contribution of imaging in 5 cases].

    PubMed

    Hassine, Elyès; Bousnina, Sophia; Marniche, Kamel; Fennira, Hammouda; Ben Khelil, Jalila; Ben Mustapha, Mohamed Ali; Megdiche, Mohamed Lamine; Chabbou, Abdellatif

    2002-05-01

    Pulmonary involvement in Behçet's disease is an uncommon condition (12%). Thromboembolism of the superior vena cava and/or other mediastinal veins, aneurysms of the aorta and pulmonary arteries are the main vascular manifestations in addition to pulmonary infarct and intrathoracic hemorrhage. Despite their scarcity, respiratory symptoms may be life-threatening. The aim of this study was to assess the contribution of thoracic imaging for one of the most serious aspects of the disease: pulmonary artery aneurysm. We report five patients with pulmonary artery aneurysms (mean age: 39.5 years). Hemoptysia revealed Behçet's disease in three. Initially explored by conventional radiography, computed tomography and angiography, pulmonary artery aneurysms are currently investigated well with helicoidal computed tomography, digital angiography, magnetic resonance imaging (MRI) and angio-MRI. These imaging techniques provide helpful information for the diagnosis of Behçet's disease.

  18. Mayo Clinic Cancer Center Experience of Metastatic Extramammary Paget Disease 1998-2012.

    PubMed

    Padrnos, Leslie; Karlin, Nina; Halfdanarson, Thorvardur R

    2016-11-17

    Extramammary Paget disease (EMPD) is a rare cutaneous malignancy. The most common presentation of EMPD is the vulva followed by perianal involvement. Most cases are localized to the dermis with treatment focused on surgery, topical treatment or radiotherapy. Recurrence is frequent despite therapies utilized. Metastatic extramammary Paget disease is uncommon and, as such, standard treatment guidelines do not exist. This study sought to evaluate the treatment regimens and outcomes of patients treated at a Mayo Clinic Center from 1998-2012. Cancer registry inquiry revealed 261 patients with report advanced Paget disease during these years. Ten cases of metastatic EPMD were identified with sufficient documentation for review. This review reveals support for utilizing localized radiation therapy for bulky disease sequentially with systemic chemotherapy consisting of carboplatin and paclitaxel or irinotecan. Further studies are necessary to define the optimal treatment regimen.

  19. Spinal Metastases of Extramammary Paget Disease with Radiologic-Pathologic Correlation.

    PubMed

    Little, Jason T; Lehman, Vance T; Morris, Jonathan M; Lehman, Julia S; Diehn, Felix E

    2016-05-01

    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.

  20. European Guidelines on Pericardial Diseases: a Focused Review of Novel Aspects.

    PubMed

    Fardman, Alexander; Charron, Philippe; Imazio, Massimo; Adler, Yehuda

    2016-05-01

    Pericardial diseases are not uncommon in daily clinical practice. The spectrum of these syndromes includes acute and chronic pericarditis, pericardial effusion, constrictive pericarditis, congenital defects, and neoplasms. The extent of the high-quality evidence on pericardial diseases has expanded significantly since the first international guidelines on pericardial disease management were published by the European Society of Cardiology in 2004. The clinical practice guidelines provide a useful reference for physicians in selecting the best management strategy for an individual patient by summarizing the current state of knowledge in a particular field. The new clinical guidelines on the diagnosis and management of pericardial diseases that have been published by the European Society of Cardiology in 2015 represent such a tool and focus on assisting the physicians in their daily clinical practice. The aim of this review is to outline and emphasize the most clinically relevant new aspects of the current guidelines as compared with its previous version published in 2004.

  1. Periodontal Disease and Systemic Health

    MedlinePlus

    ... Gum Disease Risk Factors Gum Disease Symptoms Gum Disease Prevention Gum Disease and Other Diseases Gum Disease and ... Gum Disease Risk Factors Gum Disease Symptoms Gum Disease Prevention Gum Disease and Other Diseases Gum Disease and ...

  2. Biologics for the treatment of autoimmune renal diseases.

    PubMed

    Holdsworth, Stephen R; Gan, Poh-Yi; Kitching, A Richard

    2016-04-01

    Biological therapeutics (biologics) that target autoimmune responses and inflammatory injury pathways have a marked beneficial impact on the management of many chronic diseases, including rheumatoid arthritis, psoriasis, inflammatory bowel disease, and ankylosing spondylitis. Accumulating data suggest that a growing number of renal diseases result from autoimmune injury - including lupus nephritis, IgA nephropathy, anti-neutrophil cytoplasmic antibody-associated glomerulonephritis, autoimmune (formerly idiopathic) membranous nephropathy, anti-glomerular basement membrane glomerulonephritis, and C3 nephropathy - and one can speculate that biologics might also be applicable to these diseases. As many autoimmune renal diseases are relatively uncommon, with long natural histories and diverse outcomes, clinical trials that aim to validate potentially useful biologics are difficult to design and/or perform. Some excellent consortia are undertaking cohort studies and clinical trials, but more multicentre international collaborations are needed to advance the introduction of new biologics to patients with autoimmune renal disorders. This Review discusses the key molecules that direct injurious inflammation and the biologics that are available to modulate them. The opportunities and challenges for the introduction of relevant biologics into treatment protocols for autoimmune renal diseases are also discussed.

  3. What Is Vascular Disease?

    MedlinePlus

    ... Contact Us Vascular Disease What is Vascular Disease? Education and Awareness Vascular Diseases Abdominal Aortic Aneurysm Aortic Dissection Arteriovenous Malformation Atherosclerosis Buerger's Disease Carotid Artery Disease ...

  4. Vascular Disease Foundation

    MedlinePlus

    ... Contact Us Vascular Disease What is Vascular Disease? Education and Awareness Vascular Diseases Abdominal Aortic Aneurysm Aortic Dissection Arteriovenous Malformation Atherosclerosis Buerger's Disease Carotid Artery Disease ...

  5. A rare case of Behçet disease with generalised myositis, cardiomyositis and necrotising fasciitis.

    PubMed

    Ng, Felix; Chiong, Fabian Joon Kiong; Buchanan, Russell; Burrell, Louise M

    2016-01-06

    Behçet disease (BD) is a rare relapsing, multisystem vasculitis characterised by recurrent oral and genital ulcers, and uveitis. As an autoimmune small vessel vasculitis, BD can involve other organs including the skin, joints, nervous system, kidney and the gastrointestinal tract. This report describes a 40-year-old woman who presented with an uncommon feature of BD, namely myositis, and who went on to develop myocarditis and polymicrobial necrotising fasciitis. To the best of our knowledge, this is the first reported case of an immunocompromised-associated infection occurring in BD without concurrent immunosuppressive therapy.

  6. Transfusion-associated graft-versus-host disease: a serious residual risk of blood transfusion.

    PubMed

    Higgins, Martha J; Blackall, Douglas P

    2005-11-01

    Transfusion-associated graft-versus-host disease (TA-GVHD) is well recognized as an uncommon, but frequently fatal, adverse effect of blood component therapy. In this disorder, viable donor lymphocytes transfused to a vulnerable patient orchestrate a devastating attack on the recipient's tissues. In contrast to the striking reduction in infectious risks of blood transfusion, a significant residual risk of TA-GVHD remains. This article reviews the pathogenesis and mechanism of TA-GVHD, which provide the foundation for a prevention strategy. A review of selected recent cases illustrates the challenges faced in the identification, prevention, and treatment of this frustrating disorder.

  7. Histiocytic necrotising lymphadenitis (Kikuchi-Fujimoto disease) of axillary lymph nodes

    PubMed Central

    Nagaraju, Santosh; Vaishnav, Sakshi; Burke, Leandra H; Norman, Earl M

    2015-01-01

    Kikuchi-Fujimoto disease (KFD) or histiocytic necrotising lymphadenitis is a rare entity, occurring most commonly in young Asian adults. KFD is characterised by fever with tender lymph node enlargement. The cervical group of lymph nodes is most commonly involved, and the diagnosis is conclusively made by lymph node biopsy and histopathology. KFD is a self-limiting condition, which usually resolves over 1–4 months. Symptomatic treatment with antipyretics and/or non-steroidal anti-inflammatory drugs is recommended. Here we describe an uncommon presentation of KFD in a young woman in which only the axillary lymph nodes were enlarged. PMID:25564582

  8. 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.

  9. Primary Ectopic Mediastinal Goiter in a Patient With Crohn's Disease Presenting as Myasthenia Gravis.

    PubMed

    Kumar, Sunil; Sultania, Mahesh; Vatsal, Shivam; Sharma, M C

    2015-12-01

    Mediastinum is an uncommon location for ectopic goiter. Primary ectopic mediastinal goiter has been reported to present mostly with compressive symptoms. We report a case of a 62-year-old man with history of Crohn's disease, who presented with symptoms of myasthenia gravis and was found to have an anterior mediastinal mass. The mass was resected completely with successful outcome. On histopathologic examination this mass turned out to be colloid goiter. This is an extremely rare presentation of a primary ectopic mediastinal goiter.

  10. Epidemiological investigation of a case of nosocomial Legionnaires' disease in Taiwan: implications for routine environmental surveillance.

    PubMed

    Chien, S T; Hsueh, J C; Lin, H-H; Shih, H-Y; Lee, T-M; Ben, R-J; Chou, S-T; Fong, C-M; Lin, Y E; Tseng, L-R; Chiang, C-S

    2010-06-01

    An epidemiological investigation with Legionella and molecular subtyping was conducted to determine the source of a case of nosocomial Legionnaires' disease (LD) who was hospitalized in three hospitals within a month. Legionella pneumophila serogroup 3, an uncommon serogroup for infection, was isolated from the patient's sputum. Environmental surveillance revealed Legionella colonization in all three hospitals; the patient isolate matched the isolate from the first hospital by molecular typing. Culturing the hospital water supply for Legionella is a pro-active strategy for detection of nosocomial LD even in hospitals experiencing no previous cases.

  11. 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.

  12. Concurrent development of spontaneous pyomyositis due to Staphylococcus epidermidis and Kikuchi-Fujimoto disease.

    PubMed

    Kalambokis, Georgios; Economou, Georgios; Nikas, Spiros; Bai, Maria; Lampri, Evangeli; Kosta, Paraskevi; Tsianos, Epameinondas V

    2008-01-01

    Staphylococcus epidermidis is a common cause of infections associated with prosthetic devices and immunocompromised patients. Spontaneous pyomyositis due to the above pathogen is very uncommon. Kikuchi-Fujimoto disease (KFD) is a subacute necrotizing lymphadenitis, first described in Japan. A T cell-mediated hyperimmune response to various pathogens in a genetically susceptible individual has been primarily been considered in its pathogenesis. We report a patient who developed spontaneous pyomyositis caused by S. epidermidis concurrently with KFD, and discuss the possibility of S. epidermidis infection being the stimulant of KFD.

  13. Follicular Dowling Degos disease: a rare variant of an evolving dermatosis.

    PubMed

    Singh, Saurabh; Khandpur, Sujay; Verma, Parul; Singh, Manoj

    2013-01-01

    Dowling Degos disease is a rare, reticulate pigmentary disorder with variable phenotypic expression that manifests as hyperpigmented macules and reticulate pigmentary anomaly of the flexures. Many variants of this condition and its overlap with other reticulate pigmentary disorders have been reported in the literature. We present here two cases of DDD with follicular localization, both clinically and histologically. It was associated with ichthyosis vulgaris in one case. Follicular DDD is an uncommon variant of this evolving dermatosis. Our report supports the possible role for disordered follicular keratinisation in its pathogenesis.

  14. 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.

  15. 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

  16. Autoimmune Diseases

    MedlinePlus

    ... Women - particularly African-American, Hispanic-American, and Native-American women - have a higher risk for some autoimmune diseases. There are more than 80 types of autoimmune diseases, and some have similar symptoms. This makes it hard for your health care provider to know if ...

  17. 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 ...

  18. Cardiovascular Disease

    Technology Transfer Automated Retrieval System (TEKTRAN)

    Cardiovascular disease (CVD), particularly CHD (coronary heart disease) and stroke, remain the leading causes of death of women in America and most developed countries. In recent years the rate of CVD has declined in men but not in women. This is contributed to by an under-recognition of women’s C...

  19. "Aspiration disease".

    PubMed

    Pradhan, D J; Ikins, P M

    1976-03-01

    Aspiration disease, a term used to define both an acute and chronic form of a disease entity, is described. Etiological factors, pathophysiology and therapy are discussed with emphasis on aspiration of gastric juice. A brief mention of a small clinical experience is included.

  20. Prion Diseases

    Technology Transfer Automated Retrieval System (TEKTRAN)

    Prion diseases comprise a set of rare fatal neurological diseases found in humans and other mammals. A prion is a protein capable of converting a normal cellular protein (PrPC) into a prion and thereby propagating an infection. A prion and PrPC differ solely in their conformation. There are differen...

  1. [Fabry disease].

    PubMed

    Stephan, F; Haber, R

    2017-02-01

    Fabry disease, also known as Anderson-Fabry disease or angiokeratoma corporis diffusum universale, is an X-linked recessive form of sphingolipidosis caused by total or partial deficiency of the lysosomal hydrolase, alpha-galactosidase A. From the youngest age, it results in a gradual ubiquitous build-up of glycosphingolipids that are not degraded by the missing enzyme. Cutaneous, neurological, nephrologic, cardiac, gastrointestinal, ophthalmological, respiratory, cochleovestibular and haematological involvement are responsible for increased mortality and significant impairment of quality of life in subjects affected by the disease. Angiokeratomas are the most common cutaneous sign of this disease, although they are not specific to it and must be distinguished from angiokeratomas either occurring in isolation or associated with systemic diseases. Other cutaneous signs encountered in this disease include hyperhidrosis, oral lesions, lower limb oedemas, etc. The diagnosis is mainly clinical and should be considered in the presence of a personal and/or familial history; it is confirmed by assay of enzyme activity within leucocytes or by molecular studies. Management is multidisciplinary and involves symptomatic treatment as well as specific treatment, resulting in improved survival and enhanced quality of life for patients presenting the disease. Enzyme replacement therapy with alpha-galactosidase A forms the cornerstone of specific treatment and may be associated with other types of treatments such as galactose and molecular chaperones. Gene therapy is now also used extensively. At present, these marked therapeutic advances, which closely involve dermatologists, could help transform the prognosis for patients presenting Fabry disease.

  2. Chagas disease

    MedlinePlus

    ... provider if you think you may have Chagas disease. Prevention Insect control with insecticides and houses that are less likely to have high insect populations will help control the spread of the disease. Blood banks in Central and South America screen ...

  3. Krabbe disease

    MedlinePlus

    ... cerebrospinal fluid (CSF) Genetic testing MRI of the head Nerve conduction velocity Testing for the GALC gene defect Treatment There is no specific treatment for Krabbe disease. Some people have had a bone marrow transplant in the early stages of the disease, but ...

  4. 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

  5. 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.

  6. Rosai-Dorfman disease affecting the maxilla

    PubMed Central

    Miniello, Thaís Gimenez; Araujo, Juliane Piragine; Sugaya, Norberto Nobuo; Elias, Fernando Melhem; de Almeida, Oslei Paes

    2016-01-01

    Rosai-Dorfman disease (RDD), formerly called sinus histiocytosis with massive lymphadenopathy, is a non-neoplastic proliferative histiocytic disorder with behavior ranging from highly aggressive to spontaneous remission. Although the lymph nodes are more commonly involved, any organ can be affected. This study aimed to describe the features and the follow-up of a case of extranodal RDD. Our patient was a 39-year-old woman who was referred with an 11-month history of pain in the right maxilla. On clinical examination, some upper right teeth presented full mobility with normal appearance of the surrounding gingiva. Radiographic exams showed an extensive bone reabsorption and maxillary sinus filled with homogeneous tissue, which sometimes showed polypoid formation. An incisional biopsy demonstrated a diffuse inflammatory infiltrate rich in foamy histiocytes displaying lymphocytes emperipolesis. Immunohistochemistry showed positivity for CD68 and S-100, and negativity for CD3, CD20, and CD30. Such features were consistent with the RDD diagnosis. The patient was referred to a hematologist and corticotherapy was administrated for 6 months. RDD is an uncommon disease that rarely affects the maxilla. In the present case, the treatment was conservative, and the patient is currently asymptomatic after 5 years of follow-up. PMID:28210574

  7. Pregnancy in end stage renal disease.

    PubMed

    Hladunewich, Michelle; Hercz, Adam Engel; Keunen, Johannes; Chan, Christopher; Pierratos, Andreas

    2011-01-01

    The ovulatory menstrual cycle is known to be affected on multiple levels in women with advanced renal disease. Menstrual irregularities, sexual dysfunction, and infertility worsen in parallel with the renal disease. Pregnancy in women with ESRD on dialysis is therefore uncommon. Furthermore, when pregnancy does occur, it can prove hazardous to both mother and baby owing to a multitude of potential complications including accelerated hypertension and preeclampsia, poor fetal growth, anemia, and polyhydramnios. Data are emerging, however, to suggest that pregnancy while on intensified renal replacement regimens may result in better pregnancy outcomes, and emerging trends include the decreased rate of therapeutic abortions probably reflecting a change in counseling practices over time. Nevertheless, a pregnant woman on intensive dialysis requires meticulous follow-up by a dedicated team including nephrology, obstetrics, and a full multidisciplinary staff. In this article, we will address fertility issues in young women with ESRD, review pregnancy outcomes in women on both hemodialysis and peritoneal dialysis, and provide suggestions for the management of the pregnant women on intensive hemodialysis.

  8. Parkinson's disease.

    PubMed Central

    Playfer, J. R.

    1997-01-01

    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

  9. Morgellons Disease

    PubMed Central

    Ohn, Jungyoon; Park, Seon Yong; Moon, Jungyoon; Choe, Yun Seon

    2017-01-01

    Morgellons disease is a rare disease with unknown etiology. Herein, we report the first case of Morgellons disease in Korea. A 30-year-old woman presented with a 2-month history of pruritic erythematous patches and erosions on the arms, hands, and chin. She insisted that she had fiber-like materials under her skin, which she had observed through a magnifying device. We performed skin biopsy, and observed a fiber extruding from the dermal side of the specimen. Histopathological examination showed only mild lymphocytic infiltration, and failed to reveal evidence of any microorganism. The polymerase chain reaction for Borrelia burgdorferi was negative in her serum. PMID:28392653

  10. Nekam's disease

    PubMed Central

    Aruna, Chintaginjala; Ramamurthy, D. V. S. B.; Neelima, T.; Bandaru, Haritha

    2016-01-01

    Keratosis lichenoides chronica also known as Nekam's disease is a rare mucocutaneous disorder, characterized clinically by asymptomatic violaceous keratotic papules arranged in linear, reticular, or plaque form usually on the trunk and extremities and histologically by interface dermatitis. The disease is considered rare with only 128 cases being reported in the literature till date and very few from India. We report a case of a 40-year-old man who presented with constellation of features of lichen planus, seborrheic dermatitis, and apthous ulcers, which upon workup was found to be Nekam's disease. PMID:27990390

  11. 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

  12. Meningococcal Disease

    MedlinePlus

    ... Blogs Image Library News Conferences Press Releases Radio Public Service Announcements Real Stories, Real People Share Your Story Additional ... Centers for Disease Control and Prevention (CDC) #NoRegrets Public service announcement on the importance of getting vaccinated against both ...

  13. Hashimoto's Disease

    MedlinePlus

    ... autoimmune thyroid disease. This includes radiation from the atomic bomb in Japan, the nuclear accident at Chernobyl, ... symptoms as normal pregnancy , such as fatigue and weight gain. Yet untreated underactive thyroid during pregnancy may ...

  14. Sever's Disease

    MedlinePlus

    ... good flexibility while your child is growing. The stretching exercises pictured in the treatment section can lower ... your child has already recovered from Sever's disease, stretching and putting ice on the heel after activity ...

  15. Kawasaki Disease

    MedlinePlus

    ... measles, mumps, rubella) and the Varicella (chicken pox) vaccines . Children over 6 months of age should receive the inactivated influenza (flu) vaccine injection. Long-term follow-up: Children treated for Kawasaki Disease who do not develop ...

  16. Digestive Diseases

    MedlinePlus

    ... Digestive Diseases in the United States Healthy Moments Radio Listen to health tips from Dr. Rodgers in ... la salud en español Health Statistics Healthy Moments Radio Broadcast Clinical Trials For Health Care Professionals Community ...

  17. Stargardt Disease

    MedlinePlus

    ... retina provide vision by conveying information from the visual field to the brain. The macula is responsible ... progression of symptoms in Stargardt disease is variable. Visual acuity (the ability to distinguish details and shape) ...

  18. Graves disease

    MedlinePlus

    ... is called hyperthyroidism . (An underactive thyroid leads to hypothyroidism .) Graves disease is the most common cause of ... radioactive iodine often will cause an underactive thyroid (hypothyroidism). Without getting the correct dosage of thyroid hormone ...

  19. 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 ...

  20. Vaginal Diseases

    MedlinePlus

    Vaginal problems are some of the most common reasons women go to the doctor. They may have ... that affect the vagina include sexually transmitted diseases, vaginal cancer, and vulvar cancer. Treatment of vaginal problems ...

  1. Blount Disease

    MedlinePlus

    ... or gained weight very quickly. It's also more common in people of African heritage, kids who started ... worse and can't be traced to an injury — your doctor may consider Blount disease as a ...

  2. Prion Diseases

    MedlinePlus

    ... nerve cells use for communicating with adjacent cells. 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 ...

  3. Gum Disease

    MedlinePlus

    ... away from the teeth. This is known as periodontitis (pronounced: pair-ee-oh-don-TY-tus), a more advanced form of gum disease. With periodontitis, gums become weakened and form pockets around the ...

  4. Alzheimer's Disease

    MedlinePlus

    Alzheimer's disease (AD) is the most common form of dementia among older people. Dementia is a brain disorder that seriously affects a person's ability to carry out daily activities. AD begins slowly. It first involves the parts of ...

  5. Hirschsprung Disease

    MedlinePlus

    ... have surgery are fully cured and able to pass bowel movements normally. About Hirschsprung Disease Hirschsprung (HERSH- ... The condition — which prevents bowel movements (stool) to pass through the intestines due to missing nerve cells ...

  6. Huntington disease

    MedlinePlus

    ... that may be associated with this disease: Anxiety, stress, and tension Difficulty swallowing Speech impairment Symptoms in children: Rigidity Slow movements Tremor Exams and Tests The doctor will perform a physical ...

  7. Gaucher disease

    MedlinePlus

    ... with this type may live into adulthood. Symptoms Bleeding because of low platelet count is the most common symptom seen in Gaucher disease. Other symptoms may include: Bone pain and fractures Cognitive impairment (decreased thinking ability) Easy bruising Enlarged ...

  8. Alpers' Disease

    MedlinePlus

    ... Rigor & Reproducibility Scientific Resources Animal Models Cell/Tissue/DNA Clinical and Translational Resources Gene Expression Research Reagents ... Definition Alpers' disease is a progressive, neurodevelopmental, mitochondrial DNA depletion syndrome characterized by three co-occurring clinical ...

  9. [Lyme disease].

    PubMed

    Portillo, Aránzazu; Santibáñez, Sonia; Oteo, José A

    2014-02-01

    Lyme disease (LD) is a worldwide-distributed multisystemic process caused by Borrelia burgdorferi sensu lato (s.l.) and transmitted by hard ticks. In fact, it is the most common tick-borne infectious disease in the northern hemisphere. In Spain it is transmitted by Ixodes ricinus ticks and Borrelia garinii is the genoespecies of B. burgdorferi s.l. mostly involved in our area. LD is known as "the last great imitator" due to the broad clinical spectrum that may cause. Except in the case of erythema migrans (pathognomonic feature of the disease), the remaining clinical manifestations should be confirmed using microbiological tests. This review is intended to provide readers a current vision of the etiology, epidemiology, clinical manifestations, laboratory diagnosis and treatment of Lyme disease in our environment. Controversial aspects arising from the use of non-validated microbiological tests that are being used without scientific rigor are highlighted.

  10. Crohn's Disease

    MedlinePlus

    ... large bowel ( colon ). Crohn's disease may lead to deep ulcers in the intestinal tract, giving a "cobblestone" ... understanding of the possible charges you will incur. Web page review process: This Web page is reviewed ...

  11. Liver Diseases

    MedlinePlus

    Your liver is the largest organ inside your body. It helps your body digest food, store energy, and remove poisons. There are many kinds of liver diseases. Viruses cause some of them, like hepatitis ...

  12. Thyroid Disease

    MedlinePlus

    ... your menstrual period. Your thyroid helps control your menstrual cycle. Too much or too little thyroid hormone can ... Problems getting pregnant. When thyroid disease affects the menstrual cycle, it also affects ovulation. This can make it ...

  13. Autoimmune Diseases

    MedlinePlus

    ... of CAM are herbal products, chiropractic , acupuncture , and hypnosis . If you have an autoimmune disease, you might ... help you to feel your best. Meditation, self-hypnosis, and guided imagery, are simple relaxation techniques that ...

  14. Behcet's disease.

    PubMed

    Nair, Jagdish R; Moots, Robert J

    2017-02-01

    Behçet's disease (BD) is a chronic relapsing and remitting vasculitis of unknown aetiology. It has the capacity to affect almost all organ systems because of its potential to involve both arteries and veins of all sizes, resulting in significant organ-threatening morbidity and mortality. Traditionally known as the 'silk road' disease, it has a worldwide occurrence. The aetiopathological mechanisms of disease development in BD remain poorly understood, but genome wide studies show human leukocyte antigen and non-human leukocyte antigen associations. Environmental influences and genetic factors may have a role in the aetiopathogenetic mechanisms that lead to development of the disease, indicating the autoimmune and auto-inflammatory nature of BD. The evidence base for treatment is limited but new knowledge is emerging and current treatment options range from symptomatic treatment, through to non-biological and biological immunosuppressive drugs, to cover the spectrum of clinical manifestations.

  15. Gilbert disease

    MedlinePlus

    ... passed down through families. It affects the way bilirubin is processed by the liver, and causes the ... eat. Exams and Tests A blood test for bilirubin shows changes that occur with Gilbert disease. The ...

  16. [Wilson disease].

    PubMed

    Huster, D; Kühn, H-J; Mössner, J; Caca, K

    2005-07-01

    Wilson disease is an autosomal recessive inherited disorder of human copper metabolism that leads to neurological symptoms and hepatic damage of variable degree. The affected gene ATP7B encodes a hepatic copper transport protein, which plays a key role in human copper metabolism. Clinical symptoms are complex with neurologic symptoms such as tremor, dysarthria, psychiatric disorders etc., predominant hepatic disease or mixed forms. Copper deposition in the liver results in acute liver failure, chronic hepatitis or liver cirrhosis. Early recognition by means of clinical, biochemical or genetic examination and early initiation of therapy with chelators or zinc-salts are essential for outcome and prognosis. Liver transplantation is an alternative in cases with acute and chronic liver failure and cures the hepatic disease. Frequent monitoring of drug therapy, adverse effects, and compliance is critical for the prognosis of the disease.

  17. Huntington's Disease

    MedlinePlus

    ... relatively simple tests in the office to judge: Motor symptoms Reflexes Muscle strength Muscle tone Coordination Balance ... drinking utensils adapted for people with limited fine motor skills Managing Huntington's disease is demanding on the ...

  18. Lyme Disease

    PubMed Central

    Burdge, David R.; O'Hanlon, David

    1992-01-01

    Lyme borreliosis is an infectious disease caused by the tick-transmitted spirochete Borrelia burgdorferi. To date, the only known endemic focus of Lyme disease in Canada is Long Point, Ont. A national case definition for surveillance purposes, consensus statement regarding laboratory diagnosis, and treatment guidelines have recently been developed in an attempt to standardize the approach to surveillance, diagnosis, and management of Lyme borreliosis in Canada. PMID:21221399

  19. [Ledderhose's disease].

    PubMed

    Bardelli, M; D'Arienzo, M; Veneziani, C

    1991-01-01

    The authors describe the clinical appearance of Ledderhose disease and emphasize the association with Dupuytren disease. They report on a series of patients treated at the 2nd Orthopedic Unit of University of Florence and describe the operating technique used. They believe that the procedure of removal of nodules must always be performed in association with careful exeresis of normal tissue, employing total aponeurectomy only in revision surgery.

  20. 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.