Focal status epilepticus as a manifestation of idiopathic hypertrophic cranial pachymeningitis.

PubMed

Navalpotro-Gómez, Irene; Vivanco-Hidalgo, Rosa María; Cuadrado-Godia, Elisa; Medrano-Martorell, Santiago; Alameda-Quitllet, Francisco; Villalba-Martínez, Gloria; Roquer, Jaume

2016-08-15

Idiopathic hypertrophic cranial pachymeningitis (IHCP) is an uncommon disease of unknown etiology characterized by thickening of the cerebral dura mater with possible associated inflammation. The most frequently described clinical symptoms include headache, cranial nerve palsy, and cerebellar dysfunction. Epilepsy and/or status epilepticus as main presentation is very uncommon. Two consecutive cases are presented of patients manifesting focal status epilepticus secondary to IHCP, with clinical, laboratory [blood test and cerebrospinal fluid (CSF) analysis], neuroradiologic [magnetic resonance imaging (MRI) at 3 Tesla and digital subtraction angiography (DSA)], and therapeutic data. One patient underwent meningeal biopsy; pathology findings are also included. Corticosteroid therapy resulted in clinical improvement in both cases, and neuroimaging showed decreased abnormal morphology, compared to initial findings. In the diagnostic approach to focal status epilepticus or epilepsy, IHCP must be considered a potential, although extremely infrequent, cause. Anti-inflammatory treatment is an effective addition to antiepileptic drug therapy in patients with IHCP. Copyright © 2016 Elsevier B.V. All rights reserved.

Esthesioneuroblastoma (Olfactory Neuroblastoma) with Ectopic ACTH Syndrome: A Multidisciplinary Case Presentation from the Joan Karnell Cancer Center of Pennsylvania Hospital

PubMed Central

Zheng, Sarah; Nagamine, Michiko; Newman, Jason; Benito, Maria

2010-01-01

The case of a patient with recurrent esthesioneuroblastoma complicated by ectopic adrenocorticotropic hormone production is presented, including the workup and management of this uncommon complication of an uncommon disease. PMID:20053760

Acquired perforating dermatosis: a report of 8 cases.

PubMed

González-Lara, L; Gómez-Bernal, S; Vázquez-López, F; Vivanco-Allende, B

2014-01-01

Acquired perforating dermatosis (APD) is an uncommon disease characterized by lesions exhibiting transepidermal elimination of collagen or elastic fibers. APD affects adults and is associated with systemic diseases, mainly diabetes mellitus and renal failure. We present 8 cases of APD. Seven patients had concomitant diabetes mellitus with or without chronic renal failure, and 1 had alcoholic cirrhosis. In the patients with chronic renal failure, the onset of APD coincided with transient worsening of renal function. The mean increase in creatinine concentrations above baseline was 1.14mg/dL. Acute deterioration of renal function may be involved in APD. Further studies are needed to investigate this association. Copyright © 2013 Elsevier España, S.L. y AEDV. All rights reserved.

A common presentation to an uncommon disease. Penile Mondor's disease: a case report and literature review.

PubMed

Walsh, John C; Poimboeuf, Sabré; Garvin, Daniel S

2014-01-01

Penile Mondor's disease, or superficial thrombophlebitis of the dorsal vein of the penis, is a relatively uncommon but potentially anxiety-inducing self-limiting condition that should be easily recognizable by any primary care practitioner. It typically presents with a cord-like mass and pain to the dorsal penis and has a myriad of causes, including trauma, excessive sexual activity, excessive exercise, or malignancy. Although Penile Mondor's disease is typically a clinical diagnosis, Doppler ultrasound is the initial imaging modality of choice if there is question or doubt about the diagnosis. Accurate diagnosis and reassurance about the condition's benign and self-limiting nature assuages most patients' fears. Treatment is primarily symptomatic but may vary depending on possible underlying disease processes.

The use of antigravity suits in the treatment of idiopathic orthostatic hypotension

NASA Technical Reports Server (NTRS)

Landmark, K.; Kravik, S.

1980-01-01

Idiopathic orthostatic hypotension is an uncommon disease characterized by a drop in blood pressure when going from a recumbent to a standing position. Treatment by medication generally produces poor results. Three patients at the Royal Hospital in Oslo were treated with antigravity suits and all were able to maintain adequate blood pressures in the standing position. One patient improved dramatically and was able to take short walks while wearing the suit. The two other patients, however, felt that wearing the suits eventually became uncomfortable. This treatment represents a useful treatment alternative for intractable cases.

Serotype IV and invasive group B Streptococcus disease in neonates, Minnesota, USA, 2000-2010.

PubMed

Ferrieri, Patricia; Lynfield, Ruth; Creti, Roberta; Flores, Aurea E

2013-04-01

Group B Streptococcus (GBS) is a major cause of invasive disease in neonates in the United States. Surveillance of invasive GBS disease in Minnesota, USA, during 2000-2010 yielded 449 isolates from 449 infants; 257 had early-onset (EO) disease (by age 6 days) and 192 late-onset (LO) disease (180 at age 7-89 days, 12 at age 90-180 days). Isolates were characterized by capsular polysaccharide serotype and surface-protein profile; types III and Ia predominated. However, because previously uncommon serotype IV constitutes 5/31 EO isolates in 2010, twelve type IV isolates collected during 2000-2010 were studied further. By pulsed-field gel electrophoresis, they were classified into 3 profiles; by multilocus sequence typing, representative isolates included new sequence type 468. Resistance to clindamycin or erythromycin was detected in 4/5 serotype IV isolates. Emergence of serotype IV GBS in Minnesota highlights the need for serotype prevalence monitoring to detect trends that could affect prevention strategies.

De novo autoimmune hepatitis after liver transplantation.

PubMed

Lohse, Ansgar W; Weiler-Norman, Christina; Burdelski, Martin

2007-10-01

The Kings College group was the first to describe a clinical syndrome similar to autoimmune hepatitis in children and young adults transplanted for non-immune mediated liver diseases. They coined the term "de novo autoimmune hepatitis". Several other liver transplant centres confirmed this observation. Even though the condition is uncommon, patients with de novo AIH are now seen in most of the major transplant centres. The disease is usually characterized by features of acute hepatitis in otherwise stable transplant recipients. The most characteristic laboratory hallmark is a marked hypergammaglobulinaemia. Autoantibodies are common, mostly ANA. We described also a case of LKM1-positivity in a patients transplanted for Wilson's disease, however this patients did not develop clinical or histological features of AIH. Development of SLA/LP-autoantibodies is also not described. Therefore, serologically de novo AIH appears to correspond to type 1 AIH. Like classical AIH patients respond promptly to treatment with increased doses of prednisolone and azathioprine, while the calcineurin inhibitors cyclosporine or tacrolimus areof very limited value - which is not surprising, as almost all patients develop de novo AIH while receiving these drugs. Despite the good response to treatment, most patients remain a clinical challenge as complete stable remissions are uncommon and flares, relapses and chronic disease activity can often occur. Pathogenetically this syndrome is intriguing. It is not clear, if the immune response is directed against allo-antigens, neo-antigens in the liver, or self-antigens, possibly shared by donor and host cells. It is very likely that the inflammatory milieu due to alloreactive cells in the transplanted organ contribute to the disease process. Either leading to aberrant antigen presentation, or providing co-stimulatory signals leading to the breaking of self-tolerance. The development of this disease in the presence of treatment with calcineurin inhibitors supports the view held by most specialists in autoimmune hepatitis that these drugs, even though effective in acute disease, are not helpful in the long-term management of autoimmune liver diseases.

Hippocampal sclerosis dementia: an amnesic variant of frontotemporal degeneration

PubMed Central

Onyike, Chiadi U.; Pletnikova, Olga; Sloane, Kelly L.; Sullivan, Campbell; Troncoso, Juan C.; Rabins, Peter V.

2013-01-01

OBJECTIVE To describe characteristics of hippocampal sclerosis dementia. METHODS Convenience sample of Hippocampal sclerosis dementia (HSD) recruited from the Johns Hopkins University Brain Resource Center. Twenty-four cases with post-mortem pathological diagnosis of hippocampal sclerosis dementia were reviewed for clinical characterization. RESULTS The cases showed atrophy and neuronal loss localized to the hippocampus, amygdala and entorrhinal cortex. The majority (79.2%) had amnesia at illness onset, and many (54.2%) showed abnormal conduct and psychiatric disorder. Nearly 42% presented with an amnesic state, and 37.5% presented with amnesia plus abnormal conduct and psychiatric disorder. All eventually developed a behavioral or psychiatric disorder. Disorientation, executive dysfunction, aphasia, agnosia and apraxia were uncommon at onset. Alzheimer disease (AD) was the initial clinical diagnosis in 89% and the final clinical diagnosis in 75%. Diagnosis of frontotemporal dementia (FTD) was uncommon (seen in 8%). CONCLUSION HSD shows pathological characteristics of FTD and clinical features that mimic AD and overlap with FTD. The findings, placed in the context of earlier work, support the proposition that HSD belongs to the FTD family, where it may be identified as an amnesic variant. PMID:24363834

Carotenemia associated with green bean ingestion.

PubMed

Sale, Tanya A; Stratman, Erik

2004-01-01

Carotenemia is a condition characterized by yellow discoloration of the skin and elevated blood carotene levels. Excessive and prolonged ingestion of carotene-rich, yellow- or orange-colored foods such as carrots and winter squash is the most common cause, but more rarely it may be associated with consumption of other foods as well as with hypothyroidism, diabetes mellitus, anorexia nervosa, liver disease, or kidney disease. Though not uncommon in children, there are few reports in the pediatric literature since its early descriptions in the late 1800s and early 1900s. Awareness of carotenemia can help the provider resolve confusion with jaundice and avoid unnecessary worry and costly tests. Herein we describe carotenemia in an 8-month-old Caucasian girl secondary to increased consumption of commercial infant food green beans.

Myasthenia Gravis: A Review

PubMed Central

Jayam Trouth, Annapurni; Dabi, Alok; Solieman, Noha; Kurukumbi, Mohankumar; Kalyanam, Janaki

2012-01-01

Acquired myasthenia gravis is a relatively uncommon disorder, with prevalence rates that have increased to about 20 per 100,000 in the US population. This autoimmune disease is characterized by muscle weakness that fluctuates, worsening with exertion, and improving with rest. In about two-thirds of the patients, the involvement of extrinsic ocular muscle presents as the initial symptom, usually progressing to involve other bulbar muscles and limb musculature, resulting in generalized myasthenia gravis. Although the cause of the disorder is unknown, the role of circulating antibodies directed against the nicotinic acetylcholine receptor in its pathogenesis is well established. As this disorder is highly treatable, prompt recognition is crucial. During the past decade, significant progress has been made in our understanding of the disease, leading to new treatment modalities and a significant reduction in morbidity and mortality. PMID:23193443

Radiological review of pleural tumors

PubMed Central

Sureka, Binit; Thukral, Brij Bhushan; Mittal, Mahesh Kumar; Mittal, Aliza; Sinha, Mukul

2013-01-01

Tumors of the pleura are not uncommon and diagnosis is clinched by combined imaging and clinical correlation. Malignant tumors are more common than benign tumors. Initial imaging modalities are chest radiography and Computed Tomography (CT). Further characterization may be required using Ultrasoundgraphy (USG), Magnetic resonance Imaging (MRI) and PET-CT. Biopsy remains gold standard. This article highlights various common and uncommon tumors of pleura and characteristic imaging findings. PMID:24604935

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.

Tricuspid atresia

MedlinePlus

Tri atresia; Valve disorder - tricuspid atresia; Congenital heart - tricuspid atresia; Cyanotic heart disease - tricuspid atresia ... Tricuspid atresia is an uncommon form of congenital heart disease. It affects about 5 in every 100, ...

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

PubMed

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

2017-07-01

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

Emergence of Streptococcus pyogenes emm102 causing toxic shock syndrome in Southern Taiwan during 2005-2012.

PubMed

Lin, Jiun-Nong; Chang, Lin-Li; Lai, Chung-Hsu; Lin, Hsi-Hsun; Chen, Yen-Hsu

2013-01-01

Streptococcal toxic shock syndrome (STSS) is an uncommon but life-threatening disease caused by Streptococcus pyogenes. To understand the clinical and molecular characteristics of STSS, we analyzed clinical data and explored the emm types, superantigen genes, and pulsed-field gel electrophoresis of causative S. pyogenes isolates obtained between 2005 and 2012. In total, 53 patients with STSS were included in this study. The median age of the patients was 57 years (range: 9-83 years), and 81.1% were male. The most prevalent underlying disease was diabetes mellitus (45.3%). Skin and soft-tissue infection accounted for 86.8% of STSS. The overall mortality rate was 32.1%. Underlying diseases had no statistical impact on mortality. A total of 19 different emm types were identified. The most prevalent emm type was emm102 (18.9%), followed by emm11 (17%), emm1 (11.3%), emm87 (9.4%), and emm89 (7.5%). There was no statistically significant association between emm type and a fatal outcome. Among the superantigen genes, speB was the most frequently detected one (92.5%), followed by smeZ (90.6%), speG (81.1%), speC (39.6%), and speF (39.6%). The majority of emm102 strains were found to have speB, speC, speG, and smeZ. The presence of speG was negatively associated with a fatal outcome (P = 0.045). Our surveillance revealed the emergence of uncommon emm types, particularly emm102, causing STSS in southern Taiwan. Characterization of clinical, epidemiological, and molecular characteristics of STSS will improve our understanding of this life-threatening disease.

Emergence of Streptococcus pyogenes emm102 Causing Toxic Shock Syndrome in Southern Taiwan during 2005–2012

PubMed Central

Lin, Jiun-Nong; Chang, Lin-Li; Lai, Chung-Hsu; Lin, Hsi-Hsun; Chen, Yen-Hsu

2013-01-01

Background Streptococcal toxic shock syndrome (STSS) is an uncommon but life-threatening disease caused by Streptococcus pyogenes. Methods To understand the clinical and molecular characteristics of STSS, we analyzed clinical data and explored the emm types, superantigen genes, and pulsed-field gel electrophoresis of causative S. pyogenes isolates obtained between 2005 and 2012. Results In total, 53 patients with STSS were included in this study. The median age of the patients was 57 years (range: 9–83 years), and 81.1% were male. The most prevalent underlying disease was diabetes mellitus (45.3%). Skin and soft-tissue infection accounted for 86.8% of STSS. The overall mortality rate was 32.1%. Underlying diseases had no statistical impact on mortality. A total of 19 different emm types were identified. The most prevalent emm type was emm102 (18.9%), followed by emm11 (17%), emm1 (11.3%), emm87 (9.4%), and emm89 (7.5%). There was no statistically significant association between emm type and a fatal outcome. Among the superantigen genes, speB was the most frequently detected one (92.5%), followed by smeZ (90.6%), speG (81.1%), speC (39.6%), and speF (39.6%). The majority of emm102 strains were found to have speB, speC, speG, and smeZ. The presence of speG was negatively associated with a fatal outcome (P = 0.045). Conclusions Our surveillance revealed the emergence of uncommon emm types, particularly emm102, causing STSS in southern Taiwan. Characterization of clinical, epidemiological, and molecular characteristics of STSS will improve our understanding of this life-threatening disease. PMID:24349115

Waldmann's Disease (Primary Intestinal Lymphangiectasia) with Atrial Septal Defect.

PubMed

Aroor, Shrikiran; Mundkur, Suneel; Kanaparthi, Shravan; Kumar, Sandeep

2017-04-01

Waldmann's disease or Primary Intestinal Lymphangiectasia (PIL) is a rare disorder of gastrointestinal tract characterized by dilated lymphatics and widened villi causing leakage of lymph into intestinal lumen. Loss of lymph leads to hypoalbuminemia, hyogammaglobulinemia and lymphopenia. Secondary lymphangiectasia occurs secondary to an elevated lymphatic pressure as in lymphoma, systemic lupus erythematosus, constrictive pericarditis, cardiac surgeries (Fontan's procedure), inflammatory bowel disease and malignancies. We, hereby present a five-year-old male child who presented with abdominal distension and poor weight gain. He had hypoalbuminemia, lymphocytopenia and hypogammaglobulinemia. Upper gastrointestinal endoscopy showed normal gastric mucosa and punctate white lesions in duodenal mucosa with biopsy confirming intestinal lymphangiectasia. Secondary causes of intestinal lymphangiectasia were ruled out. Echocardiography revealed atrial septal defect which is an uncommon association with Waldmann's disease. He was started on low fat, high protein diet and medium chain triglyceride supplementation following which he improved symptomatically. High index of suspicion, early diagnosis and appropriate dietary treatment are necessary to alleviate symptoms as well as to achieve a sustainable growth and development in these children.

Cole Disease Results from Mutations in ENPP1.

PubMed

Eytan, Ori; Morice-Picard, Fanny; Sarig, Ofer; Ezzedine, Khaled; Isakov, Ofer; Li, Qiaoli; Ishida-Yamamoto, Akemi; Shomron, Noam; Goldsmith, Tomer; Fuchs-Telem, Dana; Adir, Noam; Uitto, Jouni; Orlow, Seth J; Taieb, Alain; Sprecher, Eli

2013-10-03

The coexistence of abnormal keratinization and aberrant pigmentation in a number of cornification disorders has long suggested a mechanistic link between these two processes. Here, we deciphered the genetic basis of Cole disease, a rare autosomal-dominant genodermatosis featuring punctate keratoderma, patchy hypopigmentation, and uncommonly, cutaneous calcifications. Using a combination of exome and direct sequencing, we showed complete cosegregation of the disease phenotype with three heterozygous ENPP1 mutations in three unrelated families. All mutations were found to affect cysteine residues in the somatomedin-B-like 2 (SMB2) domain in the encoded protein, which has been implicated in insulin signaling. ENPP1 encodes ectonucleotide pyrophosphatase/phosphodiesterase 1 (ENPP1), which is responsible for the generation of inorganic pyrophosphate, a natural inhibitor of mineralization. Previously, biallelic mutations in ENPP1 were shown to underlie a number of recessive conditions characterized by ectopic calcification, thus providing evidence of profound phenotypic heterogeneity in ENPP1-associated genetic diseases. Copyright © 2013 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.

Vegetarian diet and excessive tea consumption: a dangerous association?

PubMed

Fiacco, Fabrizio; Barbato, Luca; Pecoraro, Maria Giovanna; Maggio, Paola

2017-02-01

Rare metabolic diseases may sometimes arise acutely and endanger human life if not immediately recognized and treated. Marchiafava Bignami disease is an uncommon neurologic disorder described in alcohol abusers and characterized by an acute severe damage of brain white matter. Even more rarely, it has been reported in non-alcohol addicted patients, but never in vegetarian people. This is a case report of a young vegetarian woman, accustomed to drink high amounts of tea, who, three weeks after her first natural childbirth, developed serious motor and cognitive disturbances. A timely brain magnetic resonance (MR) allowed us to identify Marchiafava Bignami disease and she healed few hours after the administration of parenteral steroids and vitamins. We advise to suspect Marchiafava Bignami Disease in all patients presenting with non-obvious acute generalized motor and cognitive disturbances, also if non alcoholics, and to collect the nutritional habits in all patients with suspected symptoms. In these cases a timely brain MRI is warranted, since brain imaging is typical and patients may recover after a prompt treatment.

Characterisation of corrosion layers formed under burial environment of copper-based Greek and Roman coins from Pompeii

NASA Astrophysics Data System (ADS)

Pronti, Lucilla; Felici, Anna Candida; Alesiani, Marcella; Tarquini, Ombretta; Bracciale, Maria Paola; Santarelli, Maria Laura; Pardini, Giacomo; Piacentini, Mario

2015-10-01

This paper reports on a study carried out on patinas covering copper-based Greek and Roman coins found in the archaeological excavation of Regio VIII.7.1-15 in Pompeii (Italy). Since in cultural heritage ancient artefacts should not be damaged, non-destructive and micro-destructive techniques have been used to identify typical and uncommon compounds and to characterize the surface morphology. The chlorine content of light green patinas and the presence of typical minerals allowed us to identify the bronze disease. Coins from the same stratigraphic unit have shown different morphologies of corrosion, probably due to different micro-environmental conditions.

The intriguing history of vertebral fusion anomalies: the Klippel-Feil syndrome.

PubMed

Saker, Erfanul; Loukas, Marios; Oskouian, Rod J; Tubbs, R Shane

2016-09-01

Our knowledge and understanding of vertebral fusion, defined and eponymously known as Klippel-Feil syndrome in the early 1900s, have a long history. This uncommon finding has been identified as early as 500 B.C. in an Egyptian mummy. Many more examples of spinal vertebra fusion have been described by Greek historians and recovered by archeologists demonstrating this entity's rich history. Klippel-Feil syndrome is a rare skeletal anomaly characterized by abnormal fusion of two or more vertebrae. With the advent of newer molecular technology and genetic discoveries, we now have a better understanding of the etiology and possible pathogenesis of this disease.

Headache with autonomic features in a child: cluster headache or contact-point headache?

PubMed

Mishra, Devendra; Choudhury, Krishna Kant; Gupta, Alok

2008-03-01

Headache and facial pain due to diseases of the nose and sinuses are not uncommon in children. However, nasal contact-point associated with headache is relatively uncommon and has unclear etiological significance. We herein report a child having headache with autonomic features and contact-point in the nose, and discuss the difficulties in diagnostic categorization.

Hemophagocytic syndrome secondary to tuberculosis at 24-week gestation.

PubMed

Fernández, Alexandra Arteaga; de Velasco Pérez, David Fernández; Fournier, M C Jiménez; Moreno Del Prado, J C; Torras, B Paraíso; Cañete Palomo, M L

2017-01-01

Hemophagocytic syndrome is a life-threatening disease characterized by the uncontrolled activation of macrophages, resulting in hemophagocytosis of blood cells in the bone marrow. A 20-year-old gravida at 23-week and 5-day gestation was admitted to hospital to evaluate fever up to 104°F of unknown origin, moderate cytopenia, and elevated levels of liver enzymes. Bone marrow biopsy confirmed hemophagocytic syndrome, and polymerase chain reaction came back positive for Mycobacterium tuberculosis. Supportive care and tuberculosis treatment resulted in clinical improvement. At 27 weeks and 5 days, premature rupture of the membranes occurred, and because of the high probability of reactivating the hemophagocytic syndrome, a cesarean section was performed at 29-week and 2-day gestation. Hemophagocytic syndrome is an uncommon disease which rarely appears during pregnancy. Early diagnosis and treatment can save both maternal and fetal lives.

Vulvar Lichen Sclerosus et Atrophicus

PubMed Central

Nair, Pragya Ashok

2017-01-01

Vulvar lichen sclerosus (VLS) is a chronic inflammatory dermatosis characterized by ivory-white plaques or patches with glistening surface commonly affecting the vulva and anus. Common symptoms are irritation, soreness, dyspareunia, dysuria, and urinary or fecal incontinence. Anogenital lichen sclerosus (LS) is characterized by porcelain-white atrophic plaques, which may become confluent extending around the vulval and perianal skin in a figure of eight configuration. Thinning and shrinkage of the genital area make coitus, urination, and defecation painful. LS is not uncommon in India and present as an itchy vulvar dermatosis which a gynecologist may mistake for candidal vulvovaginitis. There is often a delay in diagnosis of VLS due to its asymptomatic nature and lack of awareness in patients as well as physicians. Embarrassment of patients due to private nature of the disease and failure to examine the genital skin properly are the other reasons for delay in diagnosis. There is no curative treatment for LS. Various medications available only relieve the symptoms. Chronic nature of the disease affects the quality of life. Proper and regular follow-up is required as there are chances of the development of squamous cell carcinoma. PMID:28706405

Persistent untreated Riga-Fede disease for 6 years.

PubMed

Ozmen, Bilal; Acar, Ozge

2015-01-01

Riga-Fede disease is an uncommon, benign, ulcerative condition due to dental trauma that can occur at any age. A 9-year-old boy with a painful tongue is presented. Physicians need to recognize Riga-Fede disease and Riga-Fede-like disease to intervene early. © 2015 Wiley Periodicals, Inc.

Driven by Mutations: The Predictive Value of Mutation Subtype in EGFR-Mutated Non-Small Cell Lung Cancer.

PubMed

Castellanos, Emily; Feld, Emily; Horn, Leora

2017-04-01

EGFR-mutated NSCLC is a genetically heterogeneous disease that includes more than 200 distinct mutations. The implications of mutational subtype for both prognostic and predictive value are being increasingly understood. Although the most common EGFR mutations-exon 19 deletions or L858R mutations-predict sensitivity to EGFR tyrosine kinase inhibitors (TKIs), it is now being recognized that outcomes may be improved in patients with exon 19 deletions. Additionally, 10% of patients will have an uncommon EGFR mutation, and response to EGFR TKI therapy is highly variable depending on the mutation. Given the growing recognition of the genetic and clinical variation seen in this disease, the development of comprehensive bioinformatics-driven tools to both analyze response in uncommon mutation subtypes and inform clinical decision making will be increasingly important. Clinical trials of novel EGFR TKIs should prospectively account for the presence of uncommon mutation subtypes in study design. Copyright © 2016 International Association for the Study of Lung Cancer. Published by Elsevier Inc. All rights reserved.

Chemotherapy-induced pulmonary hypertension: role of alkylating agents.

PubMed

Ranchoux, Benoît; Günther, Sven; Quarck, Rozenn; Chaumais, Marie-Camille; Dorfmüller, Peter; Antigny, Fabrice; Dumas, Sébastien J; Raymond, Nicolas; Lau, Edmund; Savale, Laurent; Jaïs, Xavier; Sitbon, Olivier; Simonneau, Gérald; Stenmark, Kurt; Cohen-Kaminsky, Sylvia; Humbert, Marc; Montani, David; Perros, Frédéric

2015-02-01

Pulmonary veno-occlusive disease (PVOD) is an uncommon form of pulmonary hypertension (PH) characterized by progressive obstruction of small pulmonary veins and a dismal prognosis. Limited case series have reported a possible association between different chemotherapeutic agents and PVOD. We evaluated the relationship between chemotherapeutic agents and PVOD. Cases of chemotherapy-induced PVOD from the French PH network and literature were reviewed. Consequences of chemotherapy exposure on the pulmonary vasculature and hemodynamics were investigated in three different animal models (mouse, rat, and rabbit). Thirty-seven cases of chemotherapy-associated PVOD were identified in the French PH network and systematic literature analysis. Exposure to alkylating agents was observed in 83.8% of cases, mostly represented by cyclophosphamide (43.2%). In three different animal models, cyclophosphamide was able to induce PH on the basis of hemodynamic, morphological, and biological parameters. In these models, histopathological assessment confirmed significant pulmonary venous involvement highly suggestive of PVOD. Together, clinical data and animal models demonstrated a plausible cause-effect relationship between alkylating agents and PVOD. Clinicians should be aware of this uncommon, but severe, pulmonary vascular complication of alkylating agents. Copyright © 2015 American Society for Investigative Pathology. Published by Elsevier Inc. All rights reserved.

Goodpasture’s Disease: An Uncommon Disease With an Atypical Clinical Course

PubMed Central

Shiferaw, Bethel; Miro, Viktor; Smith, Carroll; Akella, Jagadish; Chua, Walter; Kim, Zae

2016-01-01

Goodpasture’s disease is an uncommon composite of features including renal failure with pulmonary hemorrhage secondary to an autoimmune response that specifically targets these organ systems. We present a case of particular interest in regards to atypical presentation, and the uncommon treatment that the patient underwent. A 65-year-old Afghani female arrived with complaints of nausea, vomiting, loss of appetite, malaise, decreased urine output, exertional dyspnea, and cough. The patient presented initially with renal failure and unexpectedly developed respiratory failure after hemodialysis. Initial CT of thorax revealed diffuse bilateral pulmonary edema. Subsequently, the patient received a bronchoscopy demonstrating alveolar hemorrhage, which highlights a clinician’s need to maintain a differential and reassess patients. Anti-GBM antibody in the serum was detected and the renal biopsy revealed evidence of the antibody on immunofluorescence. In regards to management, the patient could only be treated with plasmapheresis as she had contraindication to initiation of immunosuppression, after which she showed significant clinical improvement. We would like to highlight the benefit of plasmapheresis without concomitant immunosuppression and recommend such an approach to be considered in similar clinical scenarios, where contraindication for immunosuppressant therapy exists. PMID:26668684

Childhood-onset systemic lupus erythematosus in Singapore: clinical phenotypes, disease activity, damage, and autoantibody profiles.

PubMed

Tan, J H T; Hoh, S F; Win, M T M; Chan, Y H; Das, L; Arkachaisri, T

2015-08-01

Childhood-onset systemic lupus erythematosus (cSLE) is a multisystem autoimmune disease characterized by immune dysregulation affecting patients less than 18 years old. One-fifth of SLE cases are diagnosed during childhood. cSLE presents differently from adults and has a more severe and aggressive course. We describe the clinical and antibody profiles in our cSLE Singapore cohort. All cSLE patients who satisfied the 1997 American College of Rheumatology diagnostic criteria were captured in our lupus registry from January 2009 to January 2014. Data including demographic, cumulative clinical, serologic data, and damage indices were collected. Adjusted mean SLEDAI-2K (AMS) was used to summarize disease activity over multiple visits. Cluster analysis using non-hierarchical K-means procedure was performed on eight selected antibodies. The 64 patients (female:male ratio 5:1; Chinese 45.3%, Malay 28.1%, Indian 9.4%, and other races 17.2%) had a mean onset age of 11.5 years (range 2.1-16.7) and mean age at diagnosis was 11.9 years (range 2.6-18.0). Our study demonstrated differences in clinical manifestations for which hematologic involvement was the most common manifestation with less renal disease and uncommon neurologic manifestation as compared to other cSLE cohorts reported in our region. Antibody clusters were identified in our cohort but their clinical association/discrimination and outcome prediction required further validation study. Outcomes of our cohort in regard to disease activity after therapy and organ damages were comparable if not better to other cSLE cohorts elsewhere. Steroid-related damage, including symptomatic multifocal avascular necrosis and cataract, were not uncommon locally. Infection remains the major cause of death for the continent. Nevertheless, the five year survival rate of our cohort (98.4%) was high. © The Author(s) 2015.

Ocular melanoma and mammary mucinous carcinoma in an African lion.

PubMed

Cagnini, Didier Q; Salgado, Breno S; Linardi, Juliana L; Grandi, Fabrizio; Rocha, Rafael M; Rocha, Noeme S; Teixeira, Carlos R; Del Piero, Fabio; Sequeira, Julio L

2012-09-25

Reports of neoplasms in Panthera species are increasing, but they are still an uncommon cause of disease and death in captive wild felids. The presence of two or more primary tumor in large felids is rarely reported, and there are no documented cases of ocular melanoma and mammary mucinous carcinoma in African lions. An ocular melanoma and a mammary mucinous carcinoma are described in an African lion (Panthera leo). The first tumour was histologically characterized by the presence of epithelioid and fusiform melanocytes, while the latter was composed of mucus-producing cells with an epithelial phenotype that contained periodic acid-Schiff (PAS) and Alcian blue staining mucins. Metastases of both tumor were identified in various organs and indirect immunohistochemistry was used to characterize them. Peribiliary cysts were observed in the liver. This is the first description of these tumor in African lions.

Chronobiology in aortic diseases - "is this really a random phenomenon?".

PubMed

Manfredini, Roberto; Fabbian, Fabio; Manfredini, Fabio; Salmi, Raffaella; Gallerani, Massimo; Bossone, Eduardo

2013-01-01

Although acute aortic rupture or dissection is relatively uncommon, it ranks in third position among necropsy-confirmed causes of out-of-hospital sudden death in the general population. Similar to other acute cardiovascular events (e.g., acute myocardial infarction, sudden death, stroke, and pulmonary embolism) there is a growing body of evidence regarding temporal patterns in onset, characterized by circadian, seasonal and weekly variations for aortic aneurysms. On one hand, it is possible that these cardiovascular diseases share common underlying pathophysiologic mechanisms, e.g., increase in blood pressure, heart rate, sympathetic activity, basal vascular tone, vasoconstrictive hormones, and prothrombotic tendency. On the other hand, the possibility exists that the connecting link is an internal disruption (dyssynchrony) of some molecular mechanisms intrinsic to the peripheral biological clock (that of cardiomyocyte is the most widely investigated). Such disruption may contribute to cardiovascular disease and biological rhythms - an intriguing hypothesis for future research. Copyright © 2013 Elsevier Inc. All rights reserved.

Gorlin-Goltz syndrome.

PubMed

Joshi, Priya Shirish; Deshmukh, Vijay; Golgire, Someshwar

2012-01-01

Gorlin-Goltz syndrome is an uncommon autosomal dominant inherited disorder, which is characterized by multiple odontogenic Keratocysts and basal cell carcinomas, skeletal, dental, ophthalmic, and neurological abnormalities, intracranial ectopic calcifications of the falx cerebri, and facial dysmorphism. Pathogenesis of the syndrome is attributed to abnormalities in the long arm of chromosome 9 (q22.3-q31) and loss or mutations of human patched gene (PTCH1 gene). Diagnosis is based upon established major and minor clinical and radiological criteria and ideally confirmed by deoxyribo nucleic acid analysis. We report a case of a 9-year-old girl presenting with three major and one minor feature of Gorlin-Goltz syndrome. Radiologic findings of the syndrome are easily identifiable on Orthopantomogram, chest X-ray, and Computed tomography scans. These investigations prompt an early verification of the disease, which is very important to prevent recurrence and better survival rates from the coexistent diseases.

Gorlin-Goltz syndrome

PubMed Central

Joshi, Priya Shirish; Deshmukh, Vijay; Golgire, Someshwar

2012-01-01

Gorlin-Goltz syndrome is an uncommon autosomal dominant inherited disorder, which is characterized by multiple odontogenic Keratocysts and basal cell carcinomas, skeletal, dental, ophthalmic, and neurological abnormalities, intracranial ectopic calcifications of the falx cerebri, and facial dysmorphism. Pathogenesis of the syndrome is attributed to abnormalities in the long arm of chromosome 9 (q22.3-q31) and loss or mutations of human patched gene (PTCH1 gene). Diagnosis is based upon established major and minor clinical and radiological criteria and ideally confirmed by deoxyribo nucleic acid analysis. We report a case of a 9-year-old girl presenting with three major and one minor feature of Gorlin-Goltz syndrome. Radiologic findings of the syndrome are easily identifiable on Orthopantomogram, chest X-ray, and Computed tomography scans. These investigations prompt an early verification of the disease, which is very important to prevent recurrence and better survival rates from the coexistent diseases. PMID:22363371

An unusual reason for severe bradycardia leading to cardiac arrest during general anaesthesia: a case report.

PubMed

Struzkova, Klara; Stourac, Petr; Kanovsky, Jan; Krikava, Ivo; Toukalkova, Michaela; Sevcik, Pavel

2014-12-01

Takotsubo cardiomyopathy also known as transient balooning syndrome is an increasingly reported phenomenon characterized by acute reversible apical or midventricular dysfunction. This stress- induced cardiomyopathy mimics myocardial infarction, but without significant coronary artery disease, and rarely presents in perioperative period. We report a case of postmenopausal woman scheduled to undergo elective cholecystectomy, with no history of coronary artery disease. She presented perioperatively with Takotsubo cardiomyopathy by unique manifestation-asystoly. This uncommon cause of cardiac arrest during anaesthesia was possibly induced by preoperative emotional stress. There was full recovery thanks to intensive management. In Takotsubo cardiomyopathy related cardiogenic shock we used the calcium sensitiser levosimendan successfully. Takotsubo cardiomyopathy has an excellent long-term prognosis and nearly all patients have full recovery of left ventricular function. We emphasize the importance of heavy premedication by stress compromised patients and the need of sufficiently deep anaesthesia and analgesia during surgeries.

[Diabetes insipidus].

PubMed

Krysiak, Robert; Handzlik-Orlik, Gabriela; Okopień, Bogusław

2014-01-01

Diabetes insipidus is an uncommon disorder of water-electrolyte balance characterized by the excretion of abnormally large volumes of diluted urine (polyuria) and increased fluid intake (polydipsia). The disease may result from the insufficient production of vasopressin, its increased degradation, an impaired response of kidneys to vasopressin, or may be secondary to excessive water intake. Patients with severe and uncompensated symptoms may develop marked dehydration, neurologic symptoms and encephalopathy, and therefore diabetes insipidus can be a life-threatening condition if not properly diagnosed and managed. Patients with diabetes insipidus require treatment with desmopressin or drugs increasing sensitivity of the distal nephron to vasopressin, but this treatment may be confusing because of the disorder's variable pathophysiology and side-effects of pharmacotherapy. This review summarizes the current knowledge on different aspects of the pathophysiology, classification, clinical presentation, diagnosis, and management of diabetes insipidus. The reader is also provided with some practical recommendations on dealing with patients suffering from this disease.

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

Epstein-Barr virus-associated T/natural killer-cell lymphoproliferative disorders.

PubMed

Park, Sanghui; Ko, Young H

2014-01-01

Primary infection with Epstein-Barr virus (EBV) is usually asymptomatic and, in a normal host, EBV remains latent in B cells after primary infection for the remainder of life. Uncommonly, EBV can infect T or natural killer (NK) cells in a person with a defect in innate immunity, and EBV infection can cause unique systemic lymphoproliferative diseases (LPD) of childhood. Primary infection in young children can be complicated by hemophagocytic lymphohistiocytosis or fulminant systemic T-cell LPD of childhood. Uncommonly, patients can develop chronic active EBV (CAEBV) disease-type T/NK LPD, which includes CAEBV infection of the systemic form, hydroa vacciniforme-like T-cell LPD, and mosquito-bite hypersensitivity. The clinical course of CAEBV disease-type T/NK LPD can be smoldering, persistent or progressive, depending on the balance between viral factors and host immunity. Aggressive NK-cell leukemia, hydroa vacciniforme-like T-cell lymphoma, or uncommonly extranodal NK/T-cell lymphoma can develop in children and young adults with CAEBV disease-type T/NK-cell LPD. Extranodal T/NK-cell lymphoma is a disease of adults, and its incidence begins to increase in the third decade and comprises the major subtype of T/NK LPD throughout life. Aggressive NK-cell leukemia and nodal T/NK-cell lymphoma of the elderly are fulminant diseases, and immune senescence may be an important pathogenetic factor. This review describes the current progress in identifying different types of EBV-associated T/NK-cell LPD and includes a brief presentation of data from Korea. © 2014 Japanese Dermatological Association.

Primary Amenorrhea Associated with Hyperprolactinemia in Polyglandular Autoimmune Syndrome Type II: A Case Report.

PubMed

Cottas, Luiza Tizziotti; Borges, Maria de Fátima; Oliveira, Lívia Prata Santos; Resende, Ana Luísa Mantovani; Ataíde, Meire Soares; Resende, Elisabete Aparecida Mantovani Rodrigues

2018-06-27

Polyglandular autoimmune syndrome type II (PGA-II) is a rare immunoendocrinopathy syndrome characterized by the occurrence of autoimmune Addison disease along with diabetes mellitus type 1 and/or autoimmune thyroid disease. Here, we report the case of a 23-year-old female with PGA-II who was followed up at the dermatology and endocrinology clinics of the Universidade Federal do Triângulo Mineiro, located in the state of Minas Gerais, Brazil. First, the patient presented diffuse skin hyperpigmentation, vitiligo; and in sequence, due to vomiting, appetite and weight loss, hypoglycemia, amenorrhea, and galactorrhea, the patient was then diagnosed with PGA-II. The patient also presented intense hyperprolactinemia due to primary hypothyroidism. The late diagnosis of PGA-II is frequent because the disorder is uncommon and has non-specific clinical manifestations. This report emphasizes the significance of a timely diagnosis and appropriate treatment to reduce morbidity and mortality associated with these diseases, especially Addison disease. The present study reports a rare case of a patient with PGA-II with primary amenorrhea associated with hyperprolactinemia. Thieme Revinter Publicações Ltda Rio de Janeiro, Brazil.

Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis--A Comprehensive Review and Guide to Therapy. I. Systemic Disease.

PubMed

Kohanim, Sahar; Palioura, Sotiria; Saeed, Hajirah N; Akpek, Esen K; Amescua, Guillermo; Basu, Sayan; Blomquist, Preston H; Bouchard, Charles S; Dart, John K; Gai, Xiaowu; Gomes, José A P; Gregory, Darren G; Iyer, Geetha; Jacobs, Deborah S; Johnson, Anthony J; Kinoshita, Shigeru; Mantagos, Iason S; Mehta, Jodhbir S; Perez, Victor L; Pflugfelder, Stephen C; Sangwan, Virender S; Sippel, Kimberly C; Sotozono, Chie; Srinivasan, Bhaskar; Tan, Donald T H; Tandon, Radhika; Tseng, Scheffer C G; Ueta, Mayumi; Chodosh, James

2016-01-01

The intent of this review is to comprehensively appraise the state of the art with regard to Stevens Johnson syndrome (SJS) and toxic epidermal necrolysis (TEN), with particular attention to the ocular surface complications and their management. SJS and TEN represent two ends of a spectrum of immune-mediated, dermatobullous disease, characterized in the acute phase by a febrile illness followed by skin and mucous membrane necrosis and detachment. The widespread keratinocyte death seen in SJS/TEN is rapid and irreversible, and even with early and aggressive intervention, morbidity is severe and mortality not uncommon. We have divided this review into two parts. Part I summarizes the epidemiology and immunopathogenesis of SJS/TEN and discusses systemic therapy and its possible benefits. We hope this review will help the ophthalmologist better understand the mechanisms of disease in SJS/TEN and enhance their care of patients with this complex and often debilitating disease. Part II (April 2016 issue) will focus on ophthalmic manifestations. Copyright © 2016 Elsevier Inc. All rights reserved.

Idiopathic restrictive cardiomyopathy is part of the clinical expression of cardiac troponin I mutations

PubMed Central

Mogensen, Jens; Kubo, Toru; Duque, Mauricio; Uribe, William; Shaw, Anthony; Murphy, Ross; Gimeno, Juan R.; Elliott, Perry; McKenna, William J.

2003-01-01

Restrictive cardiomyopathy (RCM) is an uncommon heart muscle disorder characterized by impaired filling of the ventricles with reduced volume in the presence of normal or near normal wall thickness and systolic function. The disease may be associated with systemic disease but is most often idiopathic. We recognized a large family in which individuals were affected by either idiopathic RCM or hypertrophic cardiomyopathy (HCM). Linkage analysis to selected sarcomeric contractile protein genes identified cardiac troponin I (TNNI3) as the likely disease gene. Subsequent mutation analysis revealed a novel missense mutation, which cosegregated with the disease in the family (lod score: 4.8). To determine if idiopathic RCM is part of the clinical expression of TNNI3 mutations, genetic investigations of the gene were performed in an additional nine unrelated RCM patients with restrictive filling patterns, bi-atrial dilatation, normal systolic function, and normal wall thickness. TNNI3 mutations were identified in six of these nine RCM patients. Two of the mutations identified in young individuals were de novo mutations. All mutations appeared in conserved and functionally important domains of the gene. PMID:12531876

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

USDA-ARS?s Scientific Manuscript database

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...

Clinical and MRI characterization of MS patients with a pure and severe cognitive onset.

PubMed

Assouad, Rana; Louapre, Celine; Tourbah, Ayman; Papeix, Caroline; Galanaud, Damien; Lubetzki, Catherine; Stankoff, Bruno

2014-11-01

Cognitive and behavioural symptoms are common in multiple sclerosis (MS), but they are rarely the inaugural and predominant manifestation of the disease. Our objective is to characterize the clinical and radiological features of cognitive-multiple sclerosis (cog-MS), defined as MS subjects who entered into the disease with cognitive symptoms, which subsequently remain the predominant manifestation. We describe the disease course, and clinical and radiological features of 18 subjects with a cognitive form of MS. Memory loss and behavioural changes were the primary symptoms at disease onset. They remained prominent and led to severe cognitive impairment during disease course. The main associated manifestations were depression, pathological laughing and/or crying, urinary incontinence and gait disturbance suggestive of high-level gait disorder. Motor, sensory or cerebellar abnormalities were uncommon. During disease course, superimposed neurological relapses occurred in 61% of cases. Brain MRI revealed multiple periventricular lesions that were extensive and confluent in half of cases, and a severe atrophy measured as an increase in the third ventricular width compared to age-matched healthy controls. Gadolinium-enhancing lesions were common (72%). The mean diagnosis delay from disease onset was 2 years. A principal component analysis on the neuropsychological results revealed that verbal memory assessment is complementary to global cognitive functioning evaluation in these patients with severe cognitive deficit. Verbal memory deficit was associated with high EDSS. cog-MS patients might represent a challenging diagnosis, which needs to be individualized for an early management. Copyright © 2014 Elsevier B.V. All rights reserved.

JUVENILE SCLERODERMA-what has changed in the meantime?

PubMed

Adrovic, Amra; Sahin, Sezgin; Barut, Kenan; Kasapcopur, Ozgur

2018-04-22

Juvenile scleroderma is a rarely seen chronic connective tissue disorder characterized by stiffening of the skin. The frequency of the disease was reported as one per million. According to organ involvement, the disease is divided into two main forms: systemic and localized scleroderma. Since it is uncommon in children, many aspects of the disease remain discussable. With this review, we aimed to revise recent findings and new developments in this rare condition. Skin manifestations are most prominent feature of the systemic form, followed by musculoskeletal and vascular involvement. Cardiovascular, gastrointestinal and renal disorders are rare in childhood. Combination of disease modifying antirheumatic drugs (methotrexate, mycophenolate-mofetil, cyclosporine) and steroid reprents the first line therapy. Bosentan is used for cases with pulmonary hypertension and for extensive digital ulcerations. Biological treatment emerges as a useful treatment option in most severe form of the disease. Localized scleroderma is characterized with sclerodermatosis of the skin. Internal organ involvement is not expected. Classification of the local scleroderma is made according to the size and localization of the skin changes. There are few different therapeutical options but there is no specific therapy for the localized scleroderma. Many data regarding disease features and treatment options in juvenile scleroderma are based on studies among adults. There is a striking need for multicentric, prospective studies among children with juvenile scleroderma.Emerging biological agents and new treatment options are showing promising results. Anyhow, juvenile scleroderma remains a mystery with many aspects of the disease waiting to be solved. Copyright© Bentham Science Publishers; For any queries, please email at epub@benthamscience.org.

Febrile urticaria in a family: uncommon manifestation of a common disease.

PubMed

Sharma, Vishal; Singhal, Mayank; Sharma, Alka; Kumar, Vivek

2012-12-15

Cutaneous manifestations are uncommon with malaria. These include urticaria, purpura fulminans, and petechial rash. We report on a series of three patients from a single family who had an urticarial rash with fever that was subsequently diagnosed to be caused by malaria. Urticarial rash has been previously reported with both falciparum and vivax malaria infections. Although the exact pathogenesis is not clear urticarial rash might be related with IgE mediated mast cell degranulation.

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

PubMed

Shetty, Shiran; Rajasekaran, Senthilkumar; Venkatakrishnan, Leela

2014-03-01

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

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

PubMed Central

Shetty, Shiran; Rajasekaran, Senthilkumar; Venkatakrishnan, Leela

2013-01-01

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

Surgical management of sentinel lymph node biopsy outside major nodal basin in patients with cutaneous melanoma.

PubMed

Caracò, Corrado; Marone, Ugo; Di Monta, Gianluca; Aloj, Luigi; Caracò, Corradina; Anniciello, Annamaria; Lastoria, Secondo; Botti, Gerardo; Mozzillo, Nicola

2014-01-01

To assess the incidence of nonmajor lymphatic basin sentinel nodes in patients with cutaneous melanoma in order to propose a correct nomenclature and inform appropriate surgical management. This was a retrospective review of 1,045 consecutive patients with cutaneous melanoma who underwent sentinel lymph node biopsy and dynamic lymphoscintigraphy to identify sentinel node site. Nonmajor drainage sites were classified as uncommon (located in a minor lymphatic basin along the lymphatic drainage to a major classical nodal basin) or interval (located anywhere along the lymphatics between the primary tumor site and the nearest lymphatic basin) sentinel nodes. Nonclassical sentinel nodes were identified in 32 patients (3.0 %). Uncommon sentinel nodes were identified in 3.2 % (n = 17) of trunk melanoma primary disease and in 1.5 % (n = 7) of upper and lower extremity sites. Interval sentinel nodes were identified in 1.3 % (n = 7) of trunk primary lesions, with none from upper and lower extremities melanomas. The incidence of tumor-positive sentinel nodes was 24.1 % (245 of 1,013) in classical sites and 12.5 % (4 of 32) in uncommon/interval sites. The definition of uncommon and interval sentinel nodes allows the identification of different lymphatic pathways and inform appropriate surgical treatment. Wider experience with uncommon/interval sentinel nodes will better clarify the clinical implications and surgical management to be adopted in the management of uncommon and interval sentinel node sites.

[Scapulo-thoracic mycetoma. A rare localization, a particular form].

PubMed

Sy, M H; Diouf, S; Ndiaye, A; Dansokho, A V; Ndiaye, P D; Diop, C A; Sèye, S I

1998-07-01

An uncommon form and a rare localization of mycetoma is reported. The aim of this report was to distinguish this inhabitual form of mycetoma from some tropical diseases like onchocerca and other fungal diseases. A 55 year old man was admitted 10 years after a septic worm-hole for a scapulo-thoracic tumor. This encapsulated mass was a bending and rounded polyfistular one attached to the dorsal aspect of left shoulder. The fistula discharge a serosanguineous or purulent exudate. The characteristic red granule was not visible. The tumor was removed and histological examination was performed. A typical granuloma of red granule of streptomyces pelletieri was found. A good result was obtained with associated cotrimoxazole treatment. Scapulo-thoracic form included: scapular, axillary and chest form of mycetoma. All these localizations are rare. One of them can be complicated by osteitis or pleuro-pulmonary localization. Streptomyces pellitieri is the actinomycetic causal agent. This encapsulated form is uncommon. Scapulo-thoracic mycetoma is rare. Encapsulated and pedicular form is uncommon. Around Sahel areas, differential diagnosis must be evoked such as parasitic and mycobacterial infections.

Inherited and Uncommon Causes of Stroke.

PubMed

Majersik, Jennifer Juhl

2017-02-01

This article is a practical guide to identifying uncommon causes of stroke and offers guidance for evaluation and management, even when large controlled trials are lacking in these rarer forms of stroke. Fabry disease causes early-onset stroke, particularly of the vertebrobasilar system; enzyme replacement therapy should be considered in affected patients. Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), often misdiagnosed as multiple sclerosis, causes migraines, early-onset lacunar strokes, and dementia. Moyamoya disease can cause either ischemic or hemorrhagic stroke; revascularization is recommended in some patients. Cerebral amyloid angiopathy causes both microhemorrhages and macrohemorrhages, resulting in typical stroke symptoms and progressive dementia. Pregnancy raises the risk of both ischemic and hemorrhagic stroke, particularly in women with preeclampsia/eclampsia. Pregnant women are also at risk for posterior reversible encephalopathy syndrome (PRES), reversible cerebral vasoconstriction syndrome, and cerebral venous sinus thrombosis. Experts recommend that pregnant women with acute ischemic stroke not be systematically denied the potential benefits of IV recombinant tissue plasminogen activator. Neurologists should become familiar with these uncommon causes of stroke to provide future risk assessment and family counseling and to implement appropriate treatment plans to prevent recurrence.

Ulcerative colitis followed by the development of typical intestinal Behçet disease: A case report.

PubMed

Zhu, Zhenhua; Shu, Xu; Long, Shunhua; Jiang, Xiaozhen; Lu, Nonghua; Zhu, Xuan; Liao, Wangdi

2018-02-01

Intestinal Behçet disease (intestinal BD) and inflammatory bowel disease (IBD) share a lot of characteristics, including genetic background, clinical manifestations, and therapeutic strategies, especially the extraintestinal manifestations, such as oral ulcers, arthralgia, eye lesions, skin lesions, etc, but the coexistence of these 2 diseases are uncommon. Behçet disease with gastrointestinal involvement in ulcerative colitis (UC) patient has been reported in just 1 previous case report, but, which can not be diagnosed as definite intestinal BD based on Korean novel diagnositic criteria due to lacking the typical ileocecal ulcer. We present a 23-year-old woman with ulcerative disease who developed typical intestinal BD, which is the first case report of patient with coexisting UC and typical intestinal BD. This patient was diagnosed as coexistence of intestinal BD and UC base on the clinical manifestations, extra intestinal manifestations and typical colonoscopic findings. Steroid and methotrexate were administered. This patient achieved clinical remission and mucosal healing. Coexistence of intestinal BD and UC is uncommon, and the combination with steroid, methotrexate, and 5-aminosalicylic acids is an effective therapy.

Do I Need a Tetanus Shot?

MedlinePlus

... nail or a puncture wound could cause a tetanus infection, a bacterial disease that affects the nervous system and is often ... that break the skin. "Your best defense against tetanus is vaccination," said ... has made this disease uncommon in the United States, too many people, ...

The re-emerging of orf virus infection: A call for surveillance, vaccination and effective control measures.

PubMed

Bala, Jamilu Abubakar; Balakrishnan, Krishnan Nair; Abdullah, Ashwaq Ahmed; Mohamed, Ramlan; Haron, Abd Wahid; Jesse, Faez Firdaus Abdullah; Noordin, Mustapha M; Mohd-Azmi, Mohd Lila

2018-04-28

Orf disease is known to be enzootic among small ruminants in Asia, Africa, and some other parts of the world. The disease caused by orf virus is highly contagious among small ruminant species. Unfortunately, it has been neglected for decades because of the general belief that it only causes a self-limiting disease. On the other hand, in the past it has been reported to cause huge cumulative financial losses in livestock farming. Orf disease is characterized by localized proliferative and persistent skin nodule lesions that can be classified into three forms: generalized, labial and mammary or genitals. It can manifest as benign or malignant types. The later type of orf can remain persistent, often fatal and usually causes a serious outbreak among small ruminant population. Morbidity and mortality rates of orf are higher especially in newly infected kids and lambs. Application of antibiotics together with antipyretic and/or analgesic is highly recommended as a supportive disease management strategy for prevention of subsequent secondary microbial invasion. The presence of various exotic orf virus strains of different origin has been reported in many countries mostly due to poorly controlled cross-border virus transmission. There have been several efforts to develop orf virus vaccines and it was with variable success. The use of conventional vaccines to control orf is a debatable topic due to the concern of short term immunity development. Following re-infection in previously vaccinated animals, it is uncommon to observe the farms involved to experience rapid virus spread and disease outbreak. Meanwhile, cases of zoonosis from infected animals to animal handler are not uncommon. Despite failures to contain the spread of orf virus by the use of conventional vaccines, vaccination of animals with live orf virus is still considered as one of the best choice. The review herein described pertinent issues with regard to the development and use of potential effective vaccines as a control measure against orf virus infection. Copyright © 2018 Elsevier Ltd. All rights reserved.

Reversible cerebral vasoconstriction syndrome: a comprehensive update.

PubMed

Mehdi, Ali; Hajj-Ali, Rula A

2014-09-01

Reversible cerebral vasoconstriction syndrome (RCVS) is a clinico-radiological syndrome characterized by recurrent thunderclap headache, with or without neurologic symptoms, and reversible vasoconstriction of cerebral arteries. RCVS affects patients in various racial and ethnic groups and in all age groups, although most commonly in the fourth decade of life. Many conditions and exposures have been linked to RCVS, including vasoactive drugs and the peripartum period. Disturbance of the cerebral vascular tone is thought to contribute to the disease's pathophysiology. RCVS generally follows a monophasic course. Associated strokes and cerebral hemorrhages are not uncommon. In this review we will attempt to provide a comprehensive overview of RCVS, with emphasis on the controversies in the field and the newest findings in the reported literature.

Congenital sideroblastic anemia due to mutations in the mitochondrial HSP70 homologue HSPA9

PubMed Central

Schmitz-Abe, Klaus; Ciesielski, Szymon J.; Schmidt, Paul J.; Campagna, Dean R.; Rahimov, Fedik; Schilke, Brenda A.; Cuijpers, Marloes; Rieneck, Klaus; Lausen, Birgitte; Linenberger, Michael L.; Sendamarai, Anoop K.; Guo, Chaoshe; Hofmann, Inga; Newburger, Peter E.; Matthews, Dana; Shimamura, Akiko; Snijders, Pieter J. L. M.; Towne, Meghan C.; Niemeyer, Charlotte M.; Watson, Henry G.; Dziegiel, Morten H.; Heeney, Matthew M.; May, Alison; Bottomley, Sylvia S.; Swinkels, Dorine W.; Markianos, Kyriacos; Craig, Elizabeth A.

2015-01-01

The congenital sideroblastic anemias (CSAs) are relatively uncommon diseases characterized by defects in mitochondrial heme synthesis, iron-sulfur (Fe-S) cluster biogenesis, or protein synthesis. Here we demonstrate that mutations in HSPA9, a mitochondrial HSP70 homolog located in the chromosome 5q deletion syndrome 5q33 critical deletion interval and involved in mitochondrial Fe-S biogenesis, result in CSA inherited as an autosomal recessive trait. In a fraction of patients with just 1 severe loss-of-function allele, expression of the clinical phenotype is associated with a common coding single nucleotide polymorphism in trans that correlates with reduced messenger RNA expression and results in a pseudodominant pattern of inheritance. PMID:26491070

A case of transient lymphangiectasis of the penis.

PubMed

Misson, A; Deswysen, A C; Tennstedt, D; Muschart, X

2014-08-01

Physicians are likely to encounter patients with penis disorders and can be caught off guard by these uncommon pathologies, especially because they occur in a sensitive anatomical location. Here, we report the case of a patient presenting with benign transient lymphangiectasis of the penis (BTLP), including its differential diagnosis and treatment. Conclusion headings: BTLP is not an uncommon pathology and diagnosis is based only on medical history and clinical examination. The differentiation between Mondor's disease and BTLP is not necessary for treatment.

Epidemiology of salivary gland infections.

PubMed

Cascarini, Luke; McGurk, Mark

2009-08-01

This article approaches sialadenitis from a personal perspective based on 15 years of clinical practice limited mainly to salivary gland diseases. Disorders of the salivary glands are uncommon. When they occur, experience in managing the process is diluted over a range of disciplines. The result is that traditional views go unchallenged and are recast unchanged from one textbook to another. Sialadenitis of bacterial origin is a relatively uncommon occurrence today and is normally associated with sialoliths. The most common viral infection of the salivary glands is mumps.

Silicone in HIV-1-infected patients: a cause of misdiagnosed granulomatous disease.

PubMed

Males, Sylvia; Joly, Veronique; Adle-Biassette, Homa; Abgrall, Sophie; Lariven, Sylvie; Leboulanger, Nicolas; Yeni, Patrick

2010-09-01

Granulomatous diseases are common in HIV-infected patients and are usually related to opportunistic infectious or tumoral conditions. We report three cases of uncommon granulomatous disease in HIV-infected patients who had previously received silicone and for which diagnostic investigations remained negative. Copyright © 2010 International Society for Infectious Diseases. Published by Elsevier Ltd. All rights reserved.

Uncommon and Emissive {[Au2(C3H6NS2)2][Au(C3H6NS2)2]2(PF6)2} Mixed Au+ and Au3+ Pseudotetranuclear Crystalline Compound: Synthesis, Structural Characterization, and Optical Properties.

PubMed

Langaro, Ana P; Souza, Ana K R; Morassuti, Claudio Y; Lima, Sandro M; Casagrande, Gleison A; Deflon, Victor M; Nunes, Luiz A O; Da Cunha Andrade, Luis H

2016-11-23

An uncommon emissive pseudotetranuclear compound, {[Au 2 (C 3 H 6 NS 2 ) 2 ][Au(C 3 H 6 NS 2 ) 2 ] 2 (PF 6 ) 2 }, was synthesized and characterized in terms of its structure and optical properties. The synthesis produced a crystalline compound composed of four gold atoms with two different oxidation states (Au + and Au 3+ ) in the same crystalline structure. The title complex belonged to a triclinic crystalline system involving the centrosymmetric P1̅ space group. X-ray diffractometry and vibrational spectroscopy (infrared, Raman, and SERS) were used for structural characterization of the new crystal. The vibrational spectroscopy techniques supported the X-ray diffraction results and confirmed the presence of bonds including Au-Au and Au-S. Optical characterization performed using UV-vis spectroscopy showed that under ultraviolet excitation, the emissive crystalline complex presented characteristic broad luminescent bands centered at 420 and 670 nm.

Cytotoxicity mechanisms in melanoma cells and UPLC-QTOF/MS2 chemical characterization of two Brazilian stingless bee propolis: Uncommon presence of piperidinic alkaloids.

PubMed

Cisilotto, Júlia; Sandjo, Louis P; Faqueti, Larissa G; Fernandes, Heloísa; Joppi, Débora; Biavatti, Maique W; Creczynski-Pasa, Tânia Beatriz

2018-02-05

The present study characterized propolis extracts produced by Scaptotrigona bipunctata (Tubuna) and Melipona quadrifasciata (Mandaçaia) by LC-MS/MS; their cytotoxicity as well as the mechanism of action in a melanoma cellular model were also assessed. The chemical characterization performed by UPLC-ESI-QTOF/MS 2 analysis revealed uncommon presence of piperidinic alkaloids in Tubuna's propolis extract together with C-glycopyranoside flavonoids. Mandaçaia's propolis collected in the same area rather presented terpenoids and flavonoids. Regarding the mechanism of cytotoxicity, propolis extracts increased the accumulation of reactive oxygen species (ROS), reduced the potential of mitochondrial membrane, induced a decrease in the proteins Bcl-2 and AKT-3 levels, and decreased melanoma cells' migration and invasion. Both propolis extracts induced apoptosis while only Mandaçaia's propolis extract induced cell cycle arrest in G2/M. Copyright © 2017 Elsevier B.V. All rights reserved.

Acute neonatal suppurative parotitis: a case report and review of the literature.

PubMed

Özdemir, Halil; Karbuz, Adem; Ciftçi, Ergin; Fitöz, Suat; Ince, Erdal; Doğru, Ulker

2011-07-01

Neonatal suppurative parotitis (NSP) is an uncommon disease. Information about the etiopathogenesis and management of the disease is very limited. Here, we describe a newborn who developed NSP due to Pseudomonas aeruginosa and who was treated successfully with antibiotics. Copyright © 2011 International Society for Infectious Diseases. Published by Elsevier Ltd. All rights reserved.

Changes in Bacteria Induce Inflammatory Skin Diseases | Center for Cancer Research

Cancer.gov

Atopic dermatitis (AD) is a chronic inflammatory skin disease that manifests as dry skin with a relentless itch and eczema. AD is considered an allergic disease in which the skin inflammation manifests in response to chronic exposure to contact allergens. However, identification of a responsible allergen is uncommon. Meanwhile, analyses have demonstrated that the surface of

Necrotizing lymphadenitis: If not tuberculosis then what?

PubMed Central

Punjabi, Rhea K.

2018-01-01

We present a rare case of Kikuchi disease in a young lady presenting with fever and cervical lymphadenopathy. Clinically, the disease mimics tuberculosis and lymphoma. Lymph node biopsy is diagnostic and treatment is symptomatic. Although tuberculosis is endemic, clinicians should be aware of uncommon conditions as early recognition of the disease will minimize unnecessary evaluation and treatment. PMID:29915771

Necrotizing lymphadenitis: If not tuberculosis then what?

PubMed

Punjabi, Rhea K

2018-01-01

We present a rare case of Kikuchi disease in a young lady presenting with fever and cervical lymphadenopathy. Clinically, the disease mimics tuberculosis and lymphoma. Lymph node biopsy is diagnostic and treatment is symptomatic. Although tuberculosis is endemic, clinicians should be aware of uncommon conditions as early recognition of the disease will minimize unnecessary evaluation and treatment.

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

Complex Dynamics in the Basal Ganglia: Health and Disease Beyond the Motor System.

PubMed

Andres, Daniela S; Darbin, Olivier

2018-01-01

The rate and oscillatory hypotheses are the two main current frameworks of basal ganglia pathophysiology. Both hypotheses have emerged from research on movement disorders sharing similar conceptualizations. These pathological conditions are classified either as hypokinetic or hyperkinetic, and the electrophysiological hallmarks of basal ganglia dysfunction are categorized as prokinetic or antikinetic. Although nonmotor symptoms, including neurobehavioral symptoms, are a key manifestation of basal ganglia dysfunction, they are uncommonly accounted for in these models. In patients with Parkinson's disease, the broad spectrum of motor symptoms and neurobehavioral symptoms challenges the concept that basal ganglia disorders can be classified into two categories. The profile of symptoms of basal ganglia dysfunction is best characterized by a breakdown of information processing, accompanied at an electrophysiological level by complex alterations of spiking activity from basal ganglia neurons. The authors argue that the dynamics of the basal ganglia circuit cannot be fully characterized by linear properties such as the firing rate or oscillatory activity. In fact, the neuronal spiking stream of the basal ganglia circuit is irregular but has temporal structure. In this context, entropy was introduced as a measure of probabilistic irregularity in the temporal organization of neuronal activity of the basal ganglia, giving place to the entropy hypothesis of basal ganglia pathology. Obtaining a quantitative characterization of irregularity of spike trains from basal ganglia neurons is key to elaborating a new framework of basal ganglia pathophysiology.

Sessile Serrated Adenomas: How to Detect, Characterize and Resect

PubMed Central

Ma, Michael X.; Bourke, Michael J.

2017-01-01

Serrated polyps are important contributors to the burden of colorectal cancers (CRC). These lesions were once considered to have no malignant potential, but currently up to 30% of all CRC are recognized to arise from the serrated neoplasia pathway. The primary premalignant lesions are sessile serrated adenomas/polyps (SSA/Ps), although traditional serrated adenomas are relatively uncommon. Compared to conventional adenomas, SSA/Ps are morphologically subtle with indistinct borders, may be difficult to detect endoscopically, are more prevalent than previously thought, are associated with synchronous and metachronous advanced neoplasia, and have a higher risk of incomplete resection. Although many lesions remain “dormant,” progressive disease is associated with the development of dysplasia and more rapid progression to CRC. As a result, SSA/Ps are strongly implicated in the development of interval cancers. These factors represent unique challenges that require a meticulous approach to their management. In this review, we summarize the contemporary literature on the characterization, detection and resection of SSA/Ps. PMID:28494577

Clinical, histopathological and immunological characteristics of exfoliative cutaneous lupus erythematosus in 25 German short-haired pointers.

PubMed

Bryden, Sharon L; White, Stephen D; Dunston, Stanley M; Burrows, Amanda K; Olivry, Thierry

2005-08-01

Clinical, histopathological and immunological features of exfoliative cutaneous lupus erythematosus, an uncommon generalized exfoliative dermatitis occurring exclusively in German short-haired pointers, were characterized in 25 dogs. The disease affects young adult dogs and its familial incidence strongly suggests a hereditary origin. Lesions were characterized by scaling and alopecia affecting 100 (25/25) and 76% (19/25) of dogs, respectively. Follicular casts were present in 28% (7/25) of dogs. The muzzle, pinnae and dorsum were typically affected. Generalized skin lesions were described in 52% (13/25) of dogs. Systemic signs of pain and lameness affected several dogs. Anaemia and thrombocytopenia were detected in several dogs with a more severe clinical phenotype. The most common histopathological features were hyperkeratosis and a lymphocytic interface dermatitis. Direct immunostaining revealed IgG deposition in the epidermal and follicular basement membrane of 100 (19/19) and 41% (7/17) of dogs, respectively. Circulating antifollicular and antisebaceous gland IgG antibodies were demonstrated by indirect immunostaining in 57% (4/7) of dogs. This disease usually responds poorly to immunosuppressive therapy and it has a guarded prognosis. Where outcome was recorded, 85% (10/12) of dogs were euthanased due to either a failure to respond to, or complications associated with, immunomodulatory therapy. Two affected dogs are in remission and maintained on immunomodulatory dosages of prednisolone. This study demonstrates the existence of a cellular and humoral immune response directed against the epidermal basement membrane of dogs with exfoliative cutaneous lupus erythematosus. Additional studies are required to further characterize the immunological pathogenesis of this disease.

Phenotype in a patient with p.D50N mutation in GJB2 gene resemble both KID and Clouston syndromes.

PubMed

Markova, T G; Brazhkina, N B; Bliznech, E A; Bakhshinyan, V V; Polyakov, A V; Tavartkiladze, G A

2016-02-01

Keratitis-ichthyosis-deafness (KID) syndrome (OMIM 148210) is a rare ectodermal dysplasia syndrome characterized by vascularizing keratitis, congenital profound sensorineural hearing loss, and progressive erythrokeratoderma. We have found a 148G-A transition in the GJB2 gene, resulting in an asp50-to-asn (D50N) substitution in a girl with congenital deafness. This finding allowed us to diagnose а KID syndrome. But clinical features were uncommon because of a mild skin manifestation, lack of keratitis and unusual appearance resembling Clouston syndrome. Molecular genetic tests showed that it was de novo mutation because parents have normal genotype. Several autosomal dominant mutations in the GJB2 gene (сonnexin 26) now established to underlie many of the affected cases, with the majority of patients harboring the p.D50N mutation. Skin disease-associated mutation of connexin proteins can cause functional disturbances in gap junction intercellular conductance. It is likely that multiple disease mechanisms are involved across the wide spectrum of hereditary diseases relating to connexin proteins. The clinical data may provide additional insights into the dysregulation mechanisms of mutations result in the disease. Copyright © 2015 Elsevier Ireland Ltd. All rights reserved.

Ribbing disease: Uncommon cause of a common symptom

PubMed Central

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

2011-01-01

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

Macrocytic anemia in Lesch-Nyhan disease and its variants.

PubMed

Cakmakli, Hasan F; Torres, Rosa J; Menendez, Araceli; Yalcin-Cakmakli, Gul; Porter, Christopher C; Puig, Juan Garcia; Jinnah, H A

2018-06-06

Lesch-Nyhan disease is an inherited metabolic disorder characterized by overproduction of uric acid and neurobehavioral abnormalities. The purpose of this study was  to describe macrocytic erythrocytes as another common aspect of the phenotype. The results of 257 complete blood counts from 65 patients over a 23-year period were collected from 2 reference centers where many patients are seen regularly. Macrocytic erythrocytes occurred in 81-92% of subjects with Lesch-Nyhan disease or its neurological variants. After excluding cases with iron deficiency because it might pseudonormalize erythrocyte volumes, macrocytosis occurred in 97% of subjects. Macrocytic erythrocytes were sometimes accompanied by mild anemia, and rarely by severe anemia. These results establish macrocytic erythrocytes as a very common aspect of the clinical phenotype of Lesch-Nyhan disease and its neurological variants. Macrocytosis is so characteristic that its absence should prompt suspicion of a secondary process, such as iron deficiency. Because macrocytosis is uncommon in unaffected children, it can also be used as a clue for early diagnosis in children with neurodevelopmental delay. Better recognition of this characteristic feature of the disorder will also help to prevent unnecessary diagnostic testing and unnecessary attempts to treat it with folate or B12 supplements.

Rituximab is effective in severe treatment-resistant neurological Behçet's syndrome.

PubMed

Kidd, D P

2015-12-01

The objective of this study is to describe a case of severe and treatment-resistant neurological Behçet's syndrome responsive to a novel therapy. This case report describes the patient who failed to respond to conventional therapy but the brain stem lesion resolved with the anti-CD20 biological agent rituximab. Neurological complications are uncommon in Behçet's syndrome; 80% involve a meningoencephalitis which can be severe and relapsing. This is the first report of effectiveness of rituximab in this uncommon disease.

One Not to Miss: Ovarian Vein Thrombosis Causing Pulmonary Embolism with Literature Review

PubMed Central

Verde, Franco; Johnson, Pamela T.

2012-01-01

Ovarian vein thrombosis (OVT) is an uncommon entity typically seen in the post-partum, patients with pelvic surgery, infection, or inflammation, and hypercoagulabilty. Concurrent pulmonary embolism (PE) may occur in these patients; however, is an uncommon complication. Treatment commonly involves anti-coagulation and antibiotics in the setting of pelvic inflammatory disease. Presented is a case report of ovarian vein thrombosis leading to pulmonary embolism in the setting of malignancy, underscoring the importance of inspecting the gonadal vein during interpretation, particularly in the emergency setting. PMID:23378885

Crohns disease: a case report.

PubMed

Adi, Ashindoitiang John; Lloyd, Geoffrey J

2010-01-01

Inflammatory bowel disease (IBD) was previously regarded as a disease of the Western Countries. A number of studies showed a high incidence and prevalence of inflammatory bowel disease in United States, United Kingdom and Northern Europe, whereas it was considered uncommon in Asians population and rare in Africa. To report case of crohns disease that is rare in the tropic like Nigeria so as to create a high index of awareness that inflammatory bowel disease may be present but not correctly diagnosed

Undulating tongue in Wilson's disease

PubMed Central

Nagappa, M; Sinha, S; Saini, JS; Bindu, PS; Taly, AB

2014-01-01

We report an unusual occurrence of involuntary movement involving the tongue in a patient with confirmed Wilson's disease (WD). She manifested with slow, hypophonic speech and dysphagia of 4 months duration, associated with pseudobulbar affect, apathy, drooling and dystonia of upper extremities of 1 month duration. Our patient had an uncommon tongue movement which was arrhythmic. There was no feature to suggest tremor, chorea or dystonia. It might be described as athetoid as there was a writhing quality, but of lesser amplitude. Thus, the phenomenology was uncommon in clinical practice and the surface of the tongue was seen to “ripple” like a liquid surface agitated by an object or breeze. Isolated lingual dyskinesias are rare in WD. It is important to evaluate them for WD, a potentially treatable disorder. PMID:25024581

Inhibitor-bound complexes of dihydrofolate reductase-thymidylate synthase from Babesia bovis

PubMed Central

Begley, Darren W.; Edwards, Thomas E.; Raymond, Amy C.; Smith, Eric R.; Hartley, Robert C.; Abendroth, Jan; Sankaran, Banumathi; Lorimer, Donald D.; Myler, Peter J.; Staker, Bart L.; Stewart, Lance J.

2011-01-01

Babesiosis is a tick-borne disease caused by eukaryotic Babesia parasites which are morphologically similar to Plasmodium falciparum, the causative agent of malaria in humans. Like Plasmodium, different species of Babesia are tuned to infect different mammalian hosts, including rats, dogs, horses and cattle. Most species of Plasmodium and Babesia possess an essential bifunctional enzyme for nucleotide synthesis and folate metabolism: dihydrofolate reductase-thymidylate synthase. Although thymidylate synthase is highly conserved across organisms, the bifunctional form of this enzyme is relatively uncommon in nature. The structural characterization of dihydrofolate reductase-thymidylate synthase in Babesia bovis, the causative agent of babesiosis in livestock cattle, is reported here. The apo state is compared with structures that contain dUMP, NADP and two different antifolate inhibitors: pemetrexed and raltitrexed. The complexes reveal modes of binding similar to that seen in drug-resistant malaria strains and point to the utility of applying structural studies with proven cancer chemotherapies towards infectious disease research. PMID:21904052

Hypertrophic Cranial Pachymeningitis and Skull Base Osteomyelitis by Pseudomonas Aeruginosa: Case Report and Review of the Literature

PubMed Central

Caldas, Ana Rita; Brandao, Mariana; Paula, Filipe Seguro; Castro, Elsa; Farinha, Fatima; Marinho, Antonio

2012-01-01

Hypertrophic cranial pachymeningitis (HCP) is an uncommon disorder characterized by localized or diffuse thickening of the dura mater, and it usually presents with multiple cranial neurophaties. It has been associated with a variety of inflammatory, infectious, traumatic, toxic and neoplasic diseases, when no specific cause is found the process is called idiopathic. The infectious cases occur in patients under systemic immunosuppression, which have an evident contiguous source or those who have undergone neurosurgical procedures. We describe a case of a 62-year-old immunosuppressed woman with diabetes and rheumatoid arthritis, which had HCP and osteomyelitis of the skull base caused by pseudomonas aeruginosa, presenting with headache and diplopia. We believe this is the second documented case of pachymeningitis secondary to this microorganism. As a multifactorial disease, it is essencial to determine the specific causative agent of HCP before making treatment decisions, and great care is needed with immunocompromised patients. Keywords Pseudomonas aeruginosa; Hypertrophic pachymeningitis; Ophtalmoplegia, optical neuropathy; Osteomyelitis; Skull base PMID:22505989

Ulcerative colitis in a multiracial Asian country: racial differences and clinical presentation among Malaysian patients.

PubMed

Tan, Yan-Mei; Goh, Khean-Lee

2005-10-07

Inflammatory bowel disease appears to be uncommon among Asians. This study was conducted to determine the prevalence of ulcerative colitis (UC) in Malaysian patients and to establish the spectrum of the disease seen in Malaysian patients. Three major Asian races: Malay, Chinese, and Indian co-exist in Malaysia and we sought to determine if there were any racial differences in the prevalence and presentation of disease. Racial differences for several other gastrointestinal diseases have previously been observed and found to be extremely interesting. Data were obtained retrospectively from a review of the medical records of in- and out-patients with a diagnosis of UC at the University Hospital, Kuala Lumpur between 1985 and 1998. There were 45 confirmed cases of UC of which 3 were foreigners, who were excluded from analysis. Thirty new cases of UC were diagnosed during the study period. Their mean age at presentation was 33.0+/-10.0 years. The highest prevalence of UC was 17.9/100 000 hospital admissions in the Indians, followed by 11.2/100 000 hospital admissions in the Chinese. The lowest prevalence was 3.7/100 000 hospital admissions in the Malays. The prevalence of UC was significantly higher in the Indians and the Chinese when compared with the Malays with an OR of 4.89 (CI = 2.02-12.24; chi2 = 15.45, P<0.001) and 3.06 (CI = 1.24-7.78; chi2 = 6.30; P = 0.012) respectively. The extent of colonic disease was similar in the Malay and Indian patients. In contrast, distal or left-sided colitis predominated in the Chinese with an OR of 8.17 (95%CI = 1.31-64.87; chi2 = 5.53, P = 0.02). Extraintestinal manifestations were uncommon (11.9%). UC is an uncommon disease in Malaysia, but racial differences exist. The Indians had the highest prevalence of UC with the Chinese demonstrating the least extensive disease.

Acute generalized exanthematous pustulosis induced by the essential oil of Pistacia lentiscus.

PubMed

Zaraa, I; Ben Taazayet, S; Trojjet, S; El Euch, D; Chelly, I; Haouet, S; Mokni, M; Ben Osman, A

2012-06-01

Acute generalized exanthematous pustulosis (AGEP) is an uncommon pustular eruption characterized by small nonfollicular pustules on an erythematous background, sometimes associated with fever and neutrophilia. Over 90% of cases are drug-induced; however, it can be caused in rare cases by other agents. We report two cases of AGEP secondary to ingestion of Pistacia lentiscus essential oil, the first two such cases to our knowledge. The cutaneous morphology, disease course and histological findings were consistent with a definite diagnosis of AGEP, based on the criteria of the EuroSCAR study group. These two cases highlight the need to consider herbal extracts as a potential rare cause of AGEP and to ensure the safety of herbal medicines. © The Author(s). CED © 2012 British Association of Dermatologists.

Prevalence of electrocardiographic abnormalities in West-Asian and African male athletes.

PubMed

Wilson, M G; Chatard, J C; Carre, F; Hamilton, B; Whyte, G P; Sharma, S; Chalabi, H

2012-04-01

To evaluate the electrocardiographic (ECG) characteristics of West-Asian, black and Caucasian male athletes competing in Qatar using the 2010 recommendations for 12-lead ECG interpretation by the European Society of Cardiology (ESC). Cardiovascular screening with resting 12-lead ECG analysis of 1220 national level athletes (800 West-Asian, 300 black and 120 Caucasian) and 135 West-Asian controls was performed. Ten per cent of athletes presented with 'uncommon' ECG findings. Black African descent was an independent predictor of 'uncommon' ECG changes when compared with West-Asian and Caucasian athletes (p<0.001). Black athletes also demonstrated a significantly greater prevalence of lateral T-wave inversions than both West-Asian and Caucasian athletes (6.1% vs 1.6% and 0%, p<0.05). The rate of 'uncommon' ECG changes between West-Asian and Caucasian athletes was comparable (7.9% vs 5.8%, p>0.05). Seven athletes (0.6%) were identified with a disease associated with sudden death; this prevalence was two times higher in black athletes than in West-Asian athletes (1% vs 0.5%), and no cases were reported in Caucasian athletes and West-Asian controls. Eighteen West-Asian and black athletes were identified with repolarisation abnormalities suggestive of a cardiomyopathy, but ultimately, none were diagnosed with a cardiac disease. West-Asian and Caucasian athletes demonstrate comparable rates of ECG findings. Black African ethnicity is positively associated with increased frequencies of 'uncommon' ECG traits. Future work should examine the genetic mechanisms behind ECG and myocardial adaptations in athletes of diverse ethnicity, aiding in the clinical differentiation between physiological remodelling and potential cardiomyopathy or ion channel disorders.

Lichenoid Variant of Chronic Cutaneous Graft Versus Host Reaction Post Blood Transfusion: A Rare Event Post Blood Transfusion.

PubMed

Ramakrishnaiah, Pushpa Kodipalya; Lakshman, Archana; Aradhya, Sacchidanand Sarvajnamurthy; Veerabhadrappa, Nataraja Holavanahally

2015-01-01

Chronic graft versus host disease (GVHD) is a less frequently seen disease that occurs post solid organ or bone marrow transplantation. Chronic GVHD occurring post blood transfusion is an even more uncommon disease. It can present either as a lichenoid disease or as a sclerodermatous disease involving multiple systems. In this article, we report a case of chronic graft versus host reaction occurring in skin secondary to blood transfusion.

Use of support vector machines for disease risk prediction in genome-wide association studies: concerns and opportunities.

PubMed

Mittag, Florian; Büchel, Finja; Saad, Mohamad; Jahn, Andreas; Schulte, Claudia; Bochdanovits, Zoltan; Simón-Sánchez, Javier; Nalls, Mike A; Keller, Margaux; Hernandez, Dena G; Gibbs, J Raphael; Lesage, Suzanne; Brice, Alexis; Heutink, Peter; Martinez, Maria; Wood, Nicholas W; Hardy, John; Singleton, Andrew B; Zell, Andreas; Gasser, Thomas; Sharma, Manu

2012-12-01

The success of genome-wide association studies (GWAS) in deciphering the genetic architecture of complex diseases has fueled the expectations whether the individual risk can also be quantified based on the genetic architecture. So far, disease risk prediction based on top-validated single-nucleotide polymorphisms (SNPs) showed little predictive value. Here, we applied a support vector machine (SVM) to Parkinson disease (PD) and type 1 diabetes (T1D), to show that apart from magnitude of effect size of risk variants, heritability of the disease also plays an important role in disease risk prediction. Furthermore, we performed a simulation study to show the role of uncommon (frequency 1-5%) as well as rare variants (frequency <1%) in disease etiology of complex diseases. Using a cross-validation model, we were able to achieve predictions with an area under the receiver operating characteristic curve (AUC) of ~0.88 for T1D, highlighting the strong heritable component (∼90%). This is in contrast to PD, where we were unable to achieve a satisfactory prediction (AUC ~0.56; heritability ~38%). Our simulations showed that simultaneous inclusion of uncommon and rare variants in GWAS would eventually lead to feasible disease risk prediction for complex diseases such as PD. The used software is available at http://www.ra.cs.uni-tuebingen.de/software/MACLEAPS/. © 2012 Wiley Periodicals, Inc.

Problem based review: a patient with Parkinson's disease.

PubMed

Arora, A; Fletcher, P

2013-01-01

Parkinson's disease (PD) is a chronic, progressive neurodegenerative disease characterized by bradykinesia, tremor and/ or rigidity, often with gait disturbance and postural instability. In addition to these typical features, patients with PD may experience further problems related to the disease itself or to the medications used to treat it. These comorbid problems include neuropsychiatric conditions (including psychosis, hallucinations, excessive daytime sleepiness, anxiety, depression, fatigue and dementia) as well as problems associated with autonomic nervous system function such as bowel and bladder function. PD can also present in emergency situations with a 'neuroleptic malignant like picture' and acute psychosis. It is not uncommon to see motor fluctuations due to drug interactions and 'withdrawal' symptoms following dose reduction of dopamine agonists. In patients with PD, disturbances of mental state constitute some of the most difficult treatment challenges of advanced disease, often limiting effective treatment of motor symptoms and leading to increased disability and poor quality of life. While some of these symptoms may be alleviated by antiparkinsonian medication, especially if they are 'off-period' related, treatment-related phenomena are usually exacerbated by increasing the number or dosage of antiparkinsonian drugs. Elimination of exacerbating factors and simplification of drug regimens are the first and most important steps in improvement of such symptoms.

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

USDA-ARS?s Scientific Manuscript database

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

Clinical Spectrum and Management of Heart Failure in Hypertrophic Cardiomyopathy.

PubMed

Maron, Barry J; Rowin, Ethan J; Udelson, James E; Maron, Martin S

2018-05-01

Heart failure (HF), characterized by excessive exertional dyspnea, is a common complication within the broad clinical spectrum of hypertrophic cardiomyopathy (HCM). HF has become an increasingly prominent management issue with the reduction in sudden deaths due to use of implantable defibrillators in this disease. Exertional dyspnea ranges in severity from mild to severe (New York Heart Association functional classes II to IV) and not uncommonly becomes refractory to medical management, leading to progressive disability, but largely in the absence of pulmonary congestion and volume overload requiring hospitalization. HCM-related HF is most commonly due to dynamic mechanical impedance to left ventricular outflow produced by mitral valve systolic anterior motion, leading to high intracavity pressures. Surgical septal myectomy with low operative mortality (<1%) produces HF reversal and symptom relief in 90% to 95% of patients, while also conveying a survival benefit. Exercise echocardiography has assumed an important role in the evaluation of patients with HCM, i.e., by identifying candidates for septal reduction therapy with refractory HF when outflow gradients are present only with physiological exercise, distinguishing highly symptomatic nonobstructive patients as heart transplant candidates, and predicting future development of progressive HF. Notably, mortality directly attributable to HF has become exceedingly uncommon in HCM (<0.5%/year) in contrast with HF in non-HCM diseases (by 20-fold). In conclusion, HF in HCM is associated with diverse and complex pathophysiology, but a substantially more favorable prognosis than conventional non-HCM HF, and highly amenable to effective treatment options in the vast majority of patients. Copyright © 2018 American College of Cardiology Foundation. Published by Elsevier Inc. All rights reserved.

Percutaneous Management of Systemic Fungal Infection Presenting As Bilateral Renal Fungal Ball

PubMed Central

Shukla, Abhishek; Shrivastava, Nitin; Singh, Chirom Amit

2016-01-01

Abstract Background: Zygomycoses are uncommon, frequently fatal diseases caused by fungi of the class Zygomycetes. The majority of human cases are caused by Mucorales (genus—rhizopus, mucor, and absidia) fungi. Renal involvement is uncommon and urine microscopy, pottasium hydroxide mount, and fungal cultures are frequently negative. Case Presentation: A twenty-one-year-old young unmarried lady presented to our emergency department with bilateral flank pain, fever, nausea, and decreased urine output of one-month duration. She was found to have azotemia with sepsis with bilateral hydronephrosis with a left renal pelvic obstructing stone. Even after nephrostomy drainage and broad spectrum antibiotics, her condition worsened. She developed disseminated fungal infection, and timely systemic antifungal followed by bilateral nephroscopic clearance saved the patient. Conclusion: Although renal fungal infections are uncommon, a high index of suspicion and early antifungal and surgical intervention can give favorable outcomes. PMID:27704055

Percutaneous Management of Systemic Fungal Infection Presenting As Bilateral Renal Fungal Ball.

PubMed

Shukla, Abhishek; Shrivastava, Nitin; Singh, Chirom Amit; Nayak, Brusabhanu

2016-01-01

Background: Zygomycoses are uncommon, frequently fatal diseases caused by fungi of the class Zygomycetes. The majority of human cases are caused by Mucorales (genus-rhizopus, mucor, and absidia) fungi. Renal involvement is uncommon and urine microscopy, pottasium hydroxide mount, and fungal cultures are frequently negative. Case Presentation: A twenty-one-year-old young unmarried lady presented to our emergency department with bilateral flank pain, fever, nausea, and decreased urine output of one-month duration. She was found to have azotemia with sepsis with bilateral hydronephrosis with a left renal pelvic obstructing stone. Even after nephrostomy drainage and broad spectrum antibiotics, her condition worsened. She developed disseminated fungal infection, and timely systemic antifungal followed by bilateral nephroscopic clearance saved the patient. Conclusion: Although renal fungal infections are uncommon, a high index of suspicion and early antifungal and surgical intervention can give favorable outcomes.

Genetics Home Reference: hereditary cerebral amyloid angiopathy

MedlinePlus

... uncommon in individuals with the Iowa type. This type is characterized by memory loss, problems with vocabulary and the production of speech, personality changes, and involuntary muscle twitches (myoclonus). Two types of hereditary cerebral amyloid angiopathy , known as familial ...

Pneumomediastinum

MedlinePlus

Pneumomediastinum is uncommon. The condition can be caused by injury or disease. Most often, it occurs when air leaks from any part of the lung or airways into the mediastinum. Increased pressure in the lungs or airways may be caused ...

Twin anemia polycythemia sequence: a single center experience and literature review.

PubMed

Moaddab, Amirhossein; Nassr, Ahmed A; Espinoza, Jimmy; Ruano, Rodrigo; Bateni, Zhoobin H; Shamshirsaz, Amir A; Mandy, George T; Welty, Stephen E; Erfani, Hadi; Popek, Edwina J; Belfort, Michael A; Shamshirsaz, Alireza A

2016-10-01

Twin anemia polycythemia sequence (TAPS) is defined by significant intertwin hemoglobin discordance without the amniotic fluid discordance that characterizes twin-twin-transfusion syndrome (TTTS) in monochorionic twin pregnancies. TAPS is an uncommon condition which can either occur spontaneously, or following fetoscopic laser ablation for TTTS. This complication is thought to result from chronic transfusion through very small placental anastomoses; however, the pathogenesis of TAPS remains unknown. Consequently, there is no consensus in the management of TAPS. In this article, three cases of TAPS are described and we review the literature on this uncommon pregnancy complication. Copyright © 2016 Elsevier Ireland Ltd. All rights reserved.

An uncommon clinical form of foot-and-mouth disease in beef cattle presented with cornual skin lesions.

PubMed

Mohebbi, M R; Barani, S M; Mahravani, H

2017-01-01

Foot-and-mouth disease (FMD) is a major infectious disease in livestock. The common clinical signs in cattle include epidermal vesicles that are majorly distributed around oronasal cavity, feet and teats. The aim of this report is to document an uncommon clinical form of the disease which comprises the occurrence of classic vesicular lesion in a rarely observed location of the horn vegetative tissue. During Iran's outbreak of FMD in 2013, field investigation, clinical examination and sampling from the affected herds in Qom province were performed. Specimens of mouth epithelium and horn vegetative tissue were collected for virology and histopathologic study. All the samples collected from horns were positive for foot-and-mouth disease virus (FMDV) in both enzyme linked immunosorbent assay (ELISA) and polymerase chain reaction (PCR) tests, and the strain of the virus was identified as A05. Surprisingly, all the animals with horn lesion came from beef herds, were less than 12 months old and had more severe signs of the systemic disease. Since the same strain of virus did not cause similar lesions in surrounding dairy cows, it was concluded that occurrence of horn lesions may be more associated with host factors rather than virus strain.

Pyrazinamide induced thrombocytopenia

PubMed Central

Kant, Surya; Verma, Sanjay Kumar; Gupta, Vaibhav; Anand, Sunish C.; Prasad, Rajendra

2010-01-01

Thrombocytopenia is an uncommon but potentially life-threatening complication of certain antitubercular drugs and is characterized by rapid destruction of platelets whenever offending drug is taken by a susceptible person. We report a case of pyrazinamide-induced thrombocytopenia in a patient receiving anti tubercular drugs. PMID:20711377

Xanthogranulomatous pyelonephritis with colesional actinomycosis in a 63-year-old man

PubMed Central

Gulwani, Hanni V.

2015-01-01

Xanthogranulomatous pyelonephritis is an uncommon chronic destructive granulomatous disease of the kidney. A rare case of xanthogranulomatous pyelonephritis with extrarenal extension that had coexistence of renal actinomycosis is described in this article. PMID:25878419

How I treat warts, hypogammaglobulinemia, infections, and myelokathexis syndrome.

PubMed

Badolato, Raffaele; Donadieu, Jean

2017-12-07

Warts, hypogammaglobulinemia, infections, and myelokathexis (WHIM) syndrome is a genetic disease characterized by neutropenia, lymphopenia, susceptibility to infections, and myelokathexis, which describes degenerative changes of mature neutrophils and hyperplasia of bone marrow myeloid cells. Some patients present with hypogammaglobulinemia and/or refractory warts of skin and genitalia. Congenital cardiac defects constitute uncommon manifestations of the disease. The disorder, which is inherited as an autosomal dominant trait, is caused by heterozygous mutations of the chemokine receptor CXCR4. These mutations lead to an increased sensitivity of neutrophils and lymphocytes to the unique ligand CXCL12 and to an increased accumulation of mature neutrophils in the bone marrow. Despite greatly improved knowledge of the disease, therapeutic choices are insufficient to prevent some of the disease outcomes, such as development of bronchiectasis, anogenital dysplasia, or invasive cancer. The available therapeutic measures aimed at preventing the risk for infection in WHIM patients are discussed. We critically evaluate the diagnostic criteria of WHIM syndrome, particularly when WHIM syndrome should be suspected in patients with congenital neutropenia and lymphopenia despite the absence of hypogammaglobulinemia and/or warts. Finally, we discuss recent results of trials evaluating plerixafor, a selective antagonist of CXCR4, as a mechanism-oriented strategy for treatment of WHIM patients. © 2017 by The American Society of Hematology.

Detection of Coxiella Burnetii (Q fever) and Borrelia Burgdorferi (Lyme Disease) in Field-Collected Ticks from the Cayo District of Belize, Central America

DTIC Science & Technology

2016-03-25

humans is uncommon, a documented case of crushing an infected tick between the fingers resulted in a Q fever infection [14]. Most human 2...fluid [1,43,49,57]. In humans, presentation of Q fever ranges from asymptomatic, to acute disease, to chronic illness. In the majority of cases ...acute disease presents as a self-limiting febrile illness with half of cases suffering severe headaches. In severe cases of acute disease, atypical

Miscellaneous neurologic or neuromuscular disorders in horses.

PubMed

Aleman, Monica

2011-12-01

NMD is an important cause of morbidity in horses. Signs of dysfunction could be variable depending on the specific area affected. NM disease can go unrecognized if a thorough evaluation is not performed in diseased horses. Electrodiagnostic testing is an area that has the potential to document and improve our understanding of NM disease yet is uncommonly performed. Keeping an open and observant mind will enhance our ability to search and find answers.

[Compression of the sciatic nerve in uremic tumor calcinosis].

PubMed

García, S; Cofán, F; Combalia, A; Casas, A; Campistol, J M; Oppenheimer, F

1999-02-01

Tumoral calcinosis is an uncommon and benign condition characterized by the presence of slow-growing calcified periarticular soft tissue masses of varying size. They are usually asymptomatic and nerve compression is rare. We describe the case of a 54-year-old female patient on long-term hemodialysis for chronic renal failure presenting sciatica in the left lower limb secondary to an extensive uremic tumoral calcinosis that affected the hip and thigh. The pathogenesis of uremic tumoral calcinosis as well as the treatment and clinical outcome are analyzed. The uncommon nerve compression due to tumoral calcinosis are reviewed. In conclusion, uremic tumoral calcinosis is a not previously reported infrequent cause of sciatic nerve compression.

The Influence of Pseudomonas fluorescens on Corrosion Products of Archaeological Tin-Bronze Analogues

NASA Astrophysics Data System (ADS)

Ghiara, G.; Grande, C.; Ferrando, S.; Piccardo, P.

2018-01-01

In this study, tin-bronze analogues of archaeological objects were investigated in the presence of an aerobic Pseudomonas fluorescens strain in a solution, containing chlorides, sulfates, carbonates and nitrates according to a previous archaeological characterization. Classical fixation protocols were employed in order to verify the attachment capacity of such bacteria. In addition, classical metallurgical analytical techniques were used to detect the effect of bacteria on the formation of uncommon corrosion products in such an environment. Results indicate quite a good attachment capacity of the bacteria to the metallic surface and the formation of the uncommon corrosion products sulfates and sulfides is probably connected to the bacterial metabolism.

Bilateral Adventitial Cystic Disease of the Popliteal Artery: A Case Report

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

Ortiz M, William R.; Lopera, Jorge E., E-mail: Jorge.lopera@utsouthwestern.edu; Gimenez, Carlos R.

2006-04-15

Adventitial cystic disease (ACD) of the popliteal artery is an uncommon vascular condition of unknown etiology. In the present case report, we describe a case of bilateral ACD of the popliteal artery in a 58-year-old male. To the best of our knowledge, this is the first case of bilateral ACD of the popliteal artery reported in the literature.

Dysphagia due to anterior cervical osteophytes--a case report.

PubMed

Kareem, B A; Sofiyan, M; Subramanian, S

2000-09-01

Dysphagia due to osteophytes in a young person is uncommon. We present a rare case of Forestier's disease causing dysphagia in a young lady without other bony involvement. The osteophytes were surgically removed and her symptoms resolved completely.

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.

Clinical penetrance in hereditary hemochromatosis: estimates of the cumulative incidence of severe liver disease among HFE C282Y homozygotes.

PubMed

Grosse, Scott D; Gurrin, Lyle C; Bertalli, Nadine A; Allen, Katrina J

2018-04-01

Iron overload (hemochromatosis) can cause serious, symptomatic disease that is preventable if detected early and managed appropriately. The leading cause of hemochromatosis in populations of predominantly European ancestry is homozygosity of the C282Y variant in the HFE gene. Screening of adults for iron overload or associated genotypes is controversial, largely because of a belief that severe phenotypes are uncommon, although cascade testing of first-degree relatives of patients is widely endorsed. We contend that severe liver disease (cirrhosis or hepatocellular cancer) is not at all uncommon among older males with hereditary hemochromatosis. Our review of the published data from a variety of empirical sources indicates that roughly 1 in 10 male HFE C282Y homozygotes is likely to develop severe liver disease during his lifetime unless iron overload is detected early and treated. New evidence from a randomized controlled trial of treatment allows for evidence-based management of presymptomatic patients. Although population screening for HFE C282Y homozygosity faces multiple barriers, a potentially effective strategy for increasing the early detection and prevention of clinical iron overload and severe disease is to include HFE C282Y homozygosity in lists of medically actionable gene variants when reporting the results of genome or exome sequencing.

Exogenous lipoid pneumonia – a case report of a fire-eater

PubMed Central

Pielaszkiewicz-Wydra, Magdalena; Homola-Piekarska, Bożena; Szcześniak, Ewa; Ciołek-Zdun, Monika; Fall, Andrzej

2012-01-01

Summary Background: Exogenous lipoid pneumonia is an uncommon condition caused by inhalation or aspiration of a fatty substance. It usually presents as chronic respiratory illness mimicking interstitial lung diseases. Acute exogenous lipoid pneumonia is uncommon and typically is caused by an episode of aspiration of a large quantity of a petroleum-based product. Radiological findings vary and may imitate many other diseases. Case Report: We present a rare case of acute exogenous lipoid pneumonia in a fire-eater who aspirated liquid paraffin during his flame-blowing show (fire-eater’s lung). He was admitted to the hospital with productive cough, fever, hemoptysis, chest pain and dyspnea. Diagnosis was made on the basis of history of exposure to fatty substance, characteristic findings in CT examination and presence of lipid-laden macrophages in bronchoalveolar lavage fluid. Conclusions: Acute exogenous lipoid pneumonia is a very rare disease that typically occurs in fire-eaters and is called a fire-eater’s lung. The diagnosis is made on the basis of typical history and radiological, as well as histopathological findings. PMID:23269939

A Case Report of an Elderly Woman With Thrombocytopenia and Bilateral Lung Infiltrates

PubMed Central

Hashmi, Hafiz Rizwan Talib; Venkatram, Sindhaghatta; Diaz-Fuentes, Gilda

2015-01-01

Abstract Etiologies for diffuse alveolar hemorrhage are wide and range from infectious to vasculitis and malignant processes. Idiopathic thrombocytopenic purpura is an autoimmune disorder characterized by persistent thrombocytopenia, with a relatively indolent course in young patients, but a more complicated progression and high associated mortality in the older patients. Diffuse alveolar hemorrhage, complicating idiopathic thrombocytopenic purpura, is a very uncommon association, with only 2 reported cases in the literature. We present a 69-year-old healthy woman presenting with petechial rash, progressive dyspnea, and bilateral alveolar infiltrates. She was found to have idiopathic thrombocytopenic purpura associated with diffuse alveolar hemorrhage. The patient had an excellent response to high doses of pulse steroids and immunoglobulins. A high index of suspicion for noninfectious pulmonary diseases should be considered in patients with autoimmune diseases presenting with pulmonary infiltrates and hypoxia. Flexible bronchoscopy with sequential lavage is a relatively safe procedure in patients with coagulopathy and should be attempted to detect and confirm the diagnosis; absence of hemoptysis should not preclude the diagnosis. PMID:26683938

Riga-Fede disease and neonatal teeth.

PubMed

Costacurta, M; Maturo, P; Docimo, R

2012-01-01

The aim of this study is to present a case of Riga-Fede disease (RFD). RFD is a benign and uncommon mucosal disorder, characterized by an ulceration of the tongue, often caused by repetitive traumatic injuries due to backward and forward movements of the tongue over the mandibular anterior incisors. RFD is most commonly associated with the eruption of primary lower incisor in older infants or natal-neonatal teeth in newborns. A 2-month-old female infant was referred to our Paediatric Dentistry Unit for ulceration (13 mm diameter) on the ventral surface of the tongue and neonatal teeth. The extraction of neonatal teeth was selected as treatment of choice, over more conservative treatments, for the rapid resolution of the lesion and for the limited risk of inadequate nutrients intake. The extracted teeth underwent a macroscopic/microscopic examination. The complete healing of the lesion took 4 weeks; subsequently, the infant, revised at the 1-year follow-up visit. Early detection of RFD is recommended because such lesions properly may induce deformity or mutilation of tongue, dehydration, inadequate nutrients intake by the infant and growth retardation.

Association of Shah-Waardenburgh syndrome: a review of 6 cases.

PubMed

Jan, Iftikhar A; Stroedter, Lutz; Haq, Anwaar-ul; Din, Zaheer-ud

2008-04-01

Shah-Waardenburg syndrome (SWS) is a neurocristopathy and is characterized by Hirschsprung's disease (HD), deafness, and depigmentation of hairs, skin, and iris. The aim of the article is to study the relative frequency of associations in 6 consecutive cases of SWS. A review of 6 consecutive patients with SWS was performed to study the frequency of various components of the syndrome. Six patients had features of SWS. All patients had HD; of these, 3 had rectosigmoid HD, whereas 3 had extended HD. All patients had white forelock of hairs with skin depigmentation. One patient had sensorineural deafness, whereas other babies were less than 1 year, and thus, full evaluation of hearing deficiency was not assessed. Three patients had blue eyes, whereas other babies had normal iris pigmentation. Skin depigmentation was noted in 5 of the 6 patients. Three babies were seriously malnourished and showed higher association of enterocolitis. Shah-Waardenburg syndrome is an uncommon association of HD. Depigmentation with a white forelock and skin manifestations are common, whereas blue iris, long segment disease, and enterocolitis are present in nearly half of the patients.

Malignant neuroleptic syndrome following deep brain stimulation surgery: a case report.

PubMed

Themistocleous, Marios S; Boviatsis, Efstathios J; Stavrinou, Lampis C; Stathis, Pantelis; Sakas, Damianos E

2011-06-29

The neuroleptic malignant syndrome is an uncommon but dangerous complication characterized by hyperthermia, autonomic dysfunction, altered mental state, hemodynamic dysregulation, elevated serum creatine kinase, and rigor. It is most often caused by an adverse reaction to anti-psychotic drugs or abrupt discontinuation of neuroleptic or anti-parkinsonian agents. To the best of our knowledge, it has never been reported following the common practice of discontinuation of anti-parkinsonian drugs during the pre-operative preparation for deep brain stimulation surgery for Parkinson's disease. We present the first case of neuroleptic malignant syndrome associated with discontinuation of anti-parkinsonian medication prior to deep brain stimulation surgery in a 54-year-old Caucasian man. The characteristic neuroleptic malignant syndrome symptoms can be attributed to other, more common causes associated with deep brain stimulation treatment for Parkinson's disease, thus requiring a high index of clinical suspicion to timely establish the correct diagnosis. As more centers become eligible to perform deep brain stimulation, neurologists and neurosurgeons alike should be aware of this potentially fatal complication. Timely activation of the deep brain stimulation system may be important in accelerating the patient's recovery.

First Case of the Cervical Lymph Node as the Only Site of Metastasis from Anal Cancer.

PubMed

Wang, Bo; Jaiswal, Sunny; Saif, Muhammad W

2017-05-30

Anal squamous cell carcinoma was a previously uncommon malignancy that has steadily increased in incidence with the increased prevalence of human papillomavirus (HPV) and human immunodeficiency virus (HIV). Anal squamous cell carcinoma is typically characterized by local and regional involvement and distant metastases are far less common. Here, we report a case of a 36-year-old female initially diagnosed with anal squamous cell carcinoma manifesting as an anal mass along with an enlarged inguinal lymph node. After receiving chemoradiation therapy, she remained disease-free until recently, when she presented with an isolated left infraclavicular lymph node found on physical examination followed by a biopsy that was consistent with recurrent anal squamous cell carcinoma. The positron emission tomography-computed tomography (PET-CT) uptake of her original left inguinal lymph node was decreased, suggesting improved regional disease, and no other metastases were found. Our case represents a rare occurrence of metastatic anal squamous cell carcinoma to an isolated distal lymph node and reminds physicians not to forget a unusual site of metastasis and prevent any delay in treatment.

A literature review and case report of hand, foot and mouth disease in an immunocompetent adult.

PubMed

Omaña-Cepeda, Carlos; Martínez-Valverde, Andrea; del Mar Sabater-Recolons, María; Jané-Salas, Enric; Marí-Roig, Antonio; López-López, José

2016-03-15

To report an uncommon case of hand, foot and mouth disease, (HFMD) in an immunocompetent adult; a highly infectious disease, characterized by the appearance of vesicles on the mouth, hands and feet, associated with coxsackieviruses and enteroviruses; including a literature review. A 23 year Caucasian male with no medical or surgical history, no allergies, was not taking any medication and smoked ten cigarettes a day, suffering from discomfort in the oral cavity; itching, burning and pain when swallowing associated with small erythematous lesions located on the hard palate, and small ulcers in tonsillar pillars and right buccal mucosa. Mild fever of 37.8 °C and general malaise. The patient reported he had had contact with a child diagnosed with HFMD. From his background and symptoms, the patient was diagnosed with HFMD. Following symptomatic treatment, the symptoms remitted in 7 days. A literature review in MEDLINE (PubMed). The inclusion criteria were for studies on humans over the last 5 years, using the keywords HFMD. We found 925 articles, which were subsequently reduced to 52 documents after applying the inclusion criteria. Maculopapular lesions were found on hands and feet. Dentists may have a key role diagnosing the disease. A surveillance system to predict future outbreaks, encourage early diagnosis, put appropriate public health measures in place and research vaccine development is vitally important in order to control the disease.

Healthcare-associated outbreaks due to Mucorales and other uncommon fungi.

PubMed

Davoudi, Setareh; Graviss, Linda S; Kontoyiannis, Dimitrios P

2015-07-01

Healthcare-associated outbreaks of fungal infections, especially with uncommon and emerging fungi, have become more frequent in the past decade. Here, we reviewed the history and definition of healthcare-associated outbreaks of uncommon fungal infections and discussed the principles of investigating, containing and treatment of these outbreaks. In case of these uncommon diseases, occurrence of two or more cases in a short period is considered as an outbreak. Contaminated medical devices and hospital environment are the major sources of these outbreaks. Care must be taken to differentiate a real infection from colonization or contamination. Defining and identifying cases, describing epidemiologic feature of cases, finding and controlling the source of the outbreak, treating patients, and managing asymptomatic exposed patients are main steps for outbreak elimination. These fungal outbreaks are not only difficult to detect but also hard to treat. Early initiation of appropriate antifungal therapy is strongly associated with improved outcomes in infected patients. Choice of antifungal drugs should be made based on spectrum, pharmacodynamic and pharmacokinetic characteristics and adverse effects of available drugs. Combination antifungal therapy and surgical intervention may be also helpful in selected cases. A multidisciplinary approach and close collaboration between all key partners are necessary for successful control of fungal outbreaks. © 2015 Stichting European Society for Clinical Investigation Journal Foundation.

Is there a role for prophylactic colectomy in Lynch syndrome patients with inflammatory bowel disease?

PubMed

McNamara, Kate L; Aronson, Melyssa D; Cohen, Zane

2016-01-01

Lynch syndrome and chronic inflammatory bowel disease are two important risk factors for colorectal cancer. It is unclear whether Lynch syndrome patients with inflammatory bowel disease are at sufficiently increased risk for colorectal cancer to warrant prophylactic colectomy. This study aims to identify all cases of Lynch syndrome and concurrent inflammatory bowel disease in a large familial gastrointestinal cancer registry, define incidence of colorectal cancer, and characterize mismatch repair protein gene mutation status and inflammatory bowel disease-associated colorectal cancer risk factors. We retrospectively identified and collected clinical data for all cases with confirmed diagnoses of Lynch syndrome and inflammatory bowel disease in the Familial Gastrointestinal Cancer Registry at Mount Sinai Hospital in Toronto, Canada. Twelve cases of confirmed Lynch syndrome, and concurrent inflammatory bowel disease were identified. Four cases developed colorectal cancer. An additional five cases had colectomy; one was performed for severe colitis, and four were performed for low-grade dysplasia. None of these surgical specimens contained malignancy or high-grade dysplasia. The presentation of Lynch syndrome with inflammatory bowel disease is uncommon and not well described in the literature. This small but important series of twelve cases is the largest reported to date. In this series, patients with Lynch syndrome and concurrent inflammatory bowel disease do not appear to have sufficiently increased risk for colorectal cancer to recommend prophylactic surgery. Therefore, the decision to surgery should continue to be guided by surgical indications for each disease. Further evaluation of this important area will require multi-institutional input.

Uncommon Caring: Primary Males and Implicit Judgments.

ERIC Educational Resources Information Center

King, James R.

The caring and nurturing of children, which characterize primary education culture, have tended to shape a public perception of primary teaching as "women's work." Several social factors influence men's underrepresentation in the profession of primary education, such as parents not wanting their children exposed to "soft"…

[New exploration on clinical treatment of injuries caused by uncommon agents or in extraordinary regions].

PubMed

Liu, Y

2018-05-20

Burns caused by uncommon agents means those caused by other agents except heating power, with special characteristics existing in traumatogenesis, pathophysiology, and clinical manifestation. With the development of social economy, various new techniques and new equipments are springing up. In the practical use, improper operations would become traumatogenic agents and cause various special types of trauma. In addition, some special injuries emerged with the changes in people's lifestyle. For battle injury, some new war wounds, which are different from fire-arm injuries in the past, appeared with the emergence of acoustic wave, light wave, electrical and magnetic weapons. Extraordinary regions are those located on body surface with anatomic and physiological particularity. Injuries caused by uncommon traumatogenic agent or in extraordinary region are different from those ordinary burns and trauma, and their clinical treatments have special characteristics. Clinical treatments were studied aiming at these special characteristics, and some achievements in treatment of high-voltage electrical burn, hydrofluoric acid burn, wounds on special regions, and new types of burns and trauma have been made. However, a doctor's duty is not only to cure the diseases and save the patients' lives, but also to prevent the diseases. The suitable treatment and precautionary measures for the new types of burns and trauma that differ from ordinary burns and trauma in the past remain to be explored.

Mediastinal mass following chemotherapy in patients with Ewing sarcoma and osteosarcoma.

PubMed

Panadero, M A; Cruz, J J; Gomez, A; Fonseca, E; Garcia, M J; Garcia, J; Martin, G; Sanchez, P; Dueñas, G A

1996-05-01

Thymic hyperplasia following combination chemotherapy for malignant disease is very uncommon in adolescents and adults. Our experience includes a thymic enlargement noted on the sequential computed tomography (CT) in three patients who were disease-free after chemotherapy for Ewing sarcoma (2) and osteosarcoma (1). The development of an anterior mediastinal mass after successful chemotherapy does not always imply relapse of malignant disease. To prevent inappropriate treatment, the possibility of benign aetiology must be considered.

Torsade de pointes in a case of pheochromocytoma--an unusual presentation of an uncommon disease.

PubMed

Roshan, John; George, Oommen K; Vineet, S; George, Paul V; Jose, V Jacob

2004-01-01

We report the case of a middle aged lady with dilated cardiomyopathy, presenting with recurrent syncope due to torsade de pointes. Further evaluation revealed that she had a pheochromocytoma which caused the arrhythmia.

Frequency and Acceptability of Adverse Events After Anterior Cervical Discectomy and Fusion: A Survey Study From the Cervical Spine Research Society.

PubMed

Wilson, Jefferson R; Radcliff, Kris; Schroeder, Gregory; Booth, Madison; Lucasti, Christopher; Fehlings, Michael; Ahmad, Nassr; Vaccaro, Alexander; Arnold, Paul; Sciubba, Daniel; Ching, Alex; Smith, Justin; Shaffrey, Christopher; Singh, Kern; Darden, Bruce; Daffner, Scott; Cheng, Ivan; Ghogawala, Zoher; Ludwig, Steven; Buchowski, Jacob; Brodke, Darrel; Wang, Jeffrey; Lehman, Ronald A; Hilibrand, Alan; Yoon, Tim; Grauer, Jonathan; Dailey, Andrew; Steinmetz, Michael; Harrop, James S

2018-06-01

Anterior cervical discectomy and fusion has a low but well-established profile of adverse events. The goal of this study was to gauge surgeon opinion regarding the frequency and acceptability of these events. A 2-page survey was distributed to attendees at the 2015 Cervical Spine Research Society (CSRS) meeting. Respondents were asked to categorize 18 anterior cervical discectomy and fusion-related adverse events as either: "common and acceptable," "uncommon and acceptable," "uncommon and sometimes acceptable," or "uncommon and unacceptable." Results were compiled to generate the relative frequency of these responses for each complication. Responses for each complication event were also compared between respondents based on practice location (US vs. non-US), primary specialty (orthopedics vs. neurosurgery) and years in practice. Of 150 surveys distributed, 115 responses were received (76.7% response rate), with the majority of respondents found to be US-based (71.3%) orthopedic surgeons (82.6%). Wrong level surgery, esophageal injury, retained drain, and spinal cord injury were considered by most to be unacceptable and uncommon complications. Dysphagia and adjacent segment disease occurred most often, but were deemed acceptable complications. Although surgeon experience and primary specialty had little impact on responses, practice location was found to significantly influence responses for 12 of 18 complications, with non-US surgeons found to categorize events more toward the uncommon and unacceptable end of the spectrum as compared with US surgeons. These results serve to aid communication and transparency within the field of spine surgery, and will help to inform future quality improvement and best practice initiatives.

Cutaneous anthrax: an overview.

PubMed

Celia, Frank

2002-04-01

The recent acts of bioterrorism have raised new questions about this uncommon disease. Clinicians are puzzled as to why some of the victims exposed to Bacillus anthracis spores developed the cutaneous form of the disease and others the inhalational form. Despite these questions, cutaneous anthrax remains relatively simple to treat effectively. The real clinical challenge lies in the diagnosis, especially being able to distinguish it from a spider bite.

Posterior cortical atrophy variant of Alzheimer's dementia-A case report.

PubMed

Mukku, Shiva Shanker Reddy; Chintala, Haripriya; Nagaraj, Chandana; Mangalore, Sandhya; Sivakumar, Palanimuthu T; Varghese, Mathew

2018-05-17

Alzheimer's dementia (AD) is the commonest type of dementia presenting with initial episodic memory decline followed by involvement of other cognitive domains. Posterior cortical atrophy (PCA) is one of the variants of Alzheimer's dementia (AD) characterized by the atypical presentation of relatively persevered memory in the initial stage. PCA is an uncommon early onset dementia affecting adults between 50 and 65 years. It presents predominantly with visuo-spatial and visuo-perceptual deficits. PCA is a phenotype with varied etiology most common being Alzheimer's disease. The complex and atypical presentation with preserved memory and insight in patients with PCA poses challenge to clinicians in diagnosing at initial stages. There is also paucity of research on prevalence, course, prognosis and management of PCA. In this article we describe a middle aged gentlemen presenting with clinical features suggestive of PCA. We also discussed relevant literature. Copyright © 2018 Elsevier B.V. All rights reserved.

A Case of Painful Hashimoto Thyroiditis that Mimicked Subacute Thyroiditis

PubMed Central

Seo, Hye Mi; Kim, Miyeon; Bae, Jaeseok; Kim, Jo-Heon; Lee, Jeong Won; Lee, Sang Ah; Koh, Gwanpyo

2012-01-01

Hashimoto thyroiditis (HT) is an autoimmune thyroid disorder that usually presents as a diffuse, nontender goiter, whereas subacute thyroiditis (SAT) is an uncommon disease that is characterized by tender thyroid enlargement, transient thyrotoxicosis, and an elevated erythrocyte sedimentation rate (ESR). Very rarely, patients with HT can present with painful, tender goiter or fever, a mimic of SAT. We report a case of painful HT in a 68-year-old woman who presented with pain and tenderness in a chronic goiter. Her ESR was definitely elevated and her thyroid laboratory tests suggested subclinical hypothyroidism of autoimmune origin. 99mTc pertechnetate uptake was markedly decreased. Fine needle aspiration biopsy revealed reactive and polymorphous lymphoid cells and occasional epithelial cells with Hürthle cell changes. Her clinical symptoms showed a dramatic response to glucocorticoid treatment. She became hypothyroid finally and is now on levothyroxine therapy. PMID:22570820

Necrotizing fasciitis in a patient with type 2 diabetes mellitus.

PubMed

Kanuck, David M; Zgonis, Thomas; Jolly, Gary Peter

2006-01-01

Necrotizing fasciitis is a soft-tissue infection characterized by extensive necrosis of subcutaneous fat, neurovascular structures, and fascia. In general, fascial necrosis precedes muscle and skin involvement, hence its namesake. Initially, this uncommon and rapidly progressive disease process can present as a form of cellulitis or superficial abscess. However, the high morbidity and mortality rates associated with necrotizing fasciitis suggest a more serious, ominous condition. A delay in diagnosis can result in progressive advancement highlighted by widespread infection, multiple-organ involvement, and, ultimately, death. We present a case of limb salvage in a 52-year-old patient with type 2 diabetes mellitus and progressive fascial necrosis. A detailed review of the literature is presented, and current treatment modalities are described. Aggressive surgical debridement, comprehensive medical management of the sepsis and comorbidities, and timely closure of the resultant wound or wounds are essential for a successful outcome.

Color-dilution alopecia in dogs.

PubMed

Kim, Jae Hoon; Kang, Kyung Il; Sohn, Hyun Joo; Woo, Gye Hyeong; Jean, Young Hwa; Hwang, Eui Kyung

2005-09-01

Color-dilution alopecia is a relatively uncommon hereditary skin disease seen in "Blue" and other color-diluted dogs. This syndrome is associated with a color-dilution gene. The initial clinical signs are the gradual onset of a dry, dull and poor hair coat quality. Hair shafts and hair regrowth are poor, and follicular papules may develop and progress to frank comedones. Hair loss and comedo formation are usually most severe on the trunk, especially color-diluted area on the skin. Six cases of color-dilution alopecia are reported in 3 months to 10 years old dogs. The breeds of dogs are blue Doberman Pinscher, Miniature Pinscher, Dachshund, and Schnauzer. Grossly, extensive partial hair loss was seen on the skin. Histopathologically, the epidermis is relatively normal but may be hyperplastic. Hair follicles are characterized by atrophy and distortion. Heavily clumped melanin is present in the epidermis, dermis and hair follicles.

Adenoid cystic carcinoma of the head and neck--An update.

PubMed

Coca-Pelaz, Andrés; Rodrigo, Juan P; Bradley, Patrick J; Vander Poorten, Vincent; Triantafyllou, Asterios; Hunt, Jennifer L; Strojan, Primož; Rinaldo, Alessandra; Haigentz, Missak; Takes, Robert P; Mondin, Vanni; Teymoortash, Afshin; Thompson, Lester D R; Ferlito, Alfio

2015-07-01

This article provides an update on the current understanding of adenoid cystic carcinoma of the head and neck, including a review of its epidemiology, clinical behavior, pathology, molecular biology, diagnostic workup, treatment and prognosis. Adenoid cystic carcinoma is an uncommon salivary gland tumor that may arise in a wide variety of anatomical sites in the head and neck, often with an advanced stage at diagnosis. The clinical course is characterized by very late recurrences; consequently, clinical follow-up should extend at least >15 years. The optimal treatment is generally considered to be surgery with postoperative radiotherapy to optimize local disease control. Much effort has been invested into understanding the tumor's molecular biological processes, aiming to identify patients at high risk of recurrence, in hopes that they could benefit from other, still unproven treatment modalities such as chemotherapy or biological therapy. Copyright © 2015 Elsevier Ltd. All rights reserved.

Multiple endocrine diseases in cats: 15 cases (1997-2008).

PubMed

Blois, Shauna L; Dickie, Erica L; Kruth, Stephen A; Allen, Dana G

2010-08-01

The objective of this retrospective study was to characterize a population of cats from a tertiary care center diagnosed with multiple endocrine disorders, including the specific disorders and time intervals between diagnosis of each disorder. Medical records of 15 cats diagnosed with more than one endocrine disorder were reviewed. The majority of cats were domestic shorthairs, and the mean age at the time of diagnosis of the first disorder was 10.3 years. The most common combination of disorders was diabetes mellitus and hyperthyroidism. Two cats had concurrent diabetes mellitus and hyperadrenocorticism, one cat had concurrent central diabetes insipidus and diabetes mellitus. A mean of 25.7 months elapsed between diagnoses of the first and second endocrine disorder, but this was variable. This study suggests the occurrence of multiple endocrine disorders is uncommon in cats. Copyright 2010 ISFM and AAFP. Published by Elsevier Ltd. All rights reserved.

[Sciatic nerve intraneural perineurioma].

PubMed

Bonhomme, Benjamin; Poussange, Nicolas; Le Collen, Philippe; Fabre, Thierry; Vital, Anne; Lepreux, Sébastien

2015-12-01

Intraneural perineurioma is a benign tumor developed from the perineurium and responsible for localized nerve hypertrophy. This uncommon tumor is characterized by a proliferation of perineural cells with a "pseudo-onion bulb" pattern. We report a sciatic nerve intraneural perineurioma in a 39-year-old patient. Copyright © 2015 Elsevier Masson SAS. All rights reserved.

Subchondral pseudocysts in rheumatoid arthritis.

PubMed

Rennell, C; Mainzer, F; Multz, C V; Genant, H K

1977-12-01

Subchondral cyst formation (geode) is a not uncommon manifestation of rheumatoid arthritis which may at times impede correct radiologic interpretation. Four patients with rheumatoid arthritis who demonstrated striking subarticular cystic erosive disease are described. These cases emphasize the nature and appearance of this interesting finding.

Mutation analysis of 28 gaucher disease patients: The Australasian experience

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

Lewis, B.D.; Nelson, P.V.; Robertson, E.F.

1994-01-15

Gaucher disease is the most common lysomal storage disease. It is an autosomal recessive disorder that results from a deficiency of {beta}-glucocerrebrosidase. Three clinical phenotypes have been described: non-neuronopathic, acute neuronopathic, and subacuteneuronopathic. Genomic DNA from 28 Australasian patients of diverse ethnic origin with Gaucher disease was screened for 3 common mutations (1226G, 1448C and 84GG) using the amplification refractory mutation system (ARMS), and one uncommon mutation (1504T) by restriction enzyme digestion. Thirty-eight of the 56 independent alleles in these patients were characterized, with 1448C present in 42% and 1226G in 28% of the alleles. The 1226G mutation was associatedmore » only with the nonneuronopathic phenotype and 7 of the 15 patients who carried the 1448C mutation developed neuronopathic disease. Three infants who died in the neonatal period following a rapidly progressive neurodegenerative course carried no identifiable mutations. The 84GG mutation was carried by 2 Jewish patients and 1504T was present in one patient. It is now possible to rapidly identify the common Gaucher mutations using ARMS and restriction enzyme digestion, and our findings confirm the heterogeneity of mutations in Gaucher disease. It is also possible to predict in part the phenotypic outcome when screening patients for these mutations. The authors consider mutation analysis to be of most use in prenatal diagnosis and for carrier detection within affected families. 27 refs., 2 figs., 2 tabs.« less

Consensus guidelines for the diagnosis and management of patients with classic hairy cell leukemia.

PubMed

Grever, Michael R; Abdel-Wahab, Omar; Andritsos, Leslie A; Banerji, Versha; Barrientos, Jacqueline; Blachly, James S; Call, Timothy G; Catovsky, Daniel; Dearden, Claire; Demeter, Judit; Else, Monica; Forconi, Francesco; Gozzetti, Alessandro; Ho, Anthony D; Johnston, James B; Jones, Jeffrey; Juliusson, Gunnar; Kraut, Eric; Kreitman, Robert J; Larratt, Loree; Lauria, Francesco; Lozanski, Gerard; Montserrat, Emili; Parikh, Sameer A; Park, Jae H; Polliack, Aaron; Quest, Graeme R; Rai, Kanti R; Ravandi, Farhad; Robak, Tadeusz; Saven, Alan; Seymour, John F; Tadmor, Tamar; Tallman, Martin S; Tam, Constantine; Tiacci, Enrico; Troussard, Xavier; Zent, Clive S; Zenz, Thorsten; Zinzani, Pier Luigi; Falini, Brunangelo

2017-02-02

Hairy cell leukemia is an uncommon hematologic malignancy characterized by pancytopenia and marked susceptibility to infection. Tremendous progress in the management of patients with this disease has resulted in high response rates and improved survival, yet relapse and an appropriate approach to re-treatment present continuing areas for research. The disease and its effective treatment are associated with immunosuppression. Because more patients are being treated with alternative programs, comparison of results will require general agreement on definitions of response, relapse, and methods of determining minimal residual disease. The development of internationally accepted, reproducible criteria is of paramount importance in evaluating and comparing clinical trials to provide optimal care. Despite the success achieved in managing these patients, continued participation in available clinical trials in the first-line and particularly in the relapse setting is highly recommended. The Hairy Cell Leukemia Foundation convened an international conference to provide common definitions and structure to guide current management. There is substantial opportunity for continued research in this disease. In addition to the importance of optimizing the prevention and management of the serious risk of infection, organized evaluations of minimal residual disease and treatment at relapse offer ample opportunities for clinical research. Finally, a scholarly evaluation of quality of life in the increasing number of survivors of this now manageable chronic illness merits further study. The development of consensus guidelines for this disease offers a framework for continued enhancement of the outcome for patients.

Consensus guidelines for the diagnosis and management of patients with classic hairy cell leukemia

PubMed Central

Abdel-Wahab, Omar; Andritsos, Leslie A.; Banerji, Versha; Barrientos, Jacqueline; Blachly, James S.; Call, Timothy G.; Catovsky, Daniel; Dearden, Claire; Demeter, Judit; Else, Monica; Forconi, Francesco; Gozzetti, Alessandro; Ho, Anthony D.; Johnston, James B.; Jones, Jeffrey; Juliusson, Gunnar; Kraut, Eric; Kreitman, Robert J.; Larratt, Loree; Lauria, Francesco; Lozanski, Gerard; Montserrat, Emili; Parikh, Sameer A.; Park, Jae H.; Polliack, Aaron; Quest, Graeme R.; Rai, Kanti R.; Ravandi, Farhad; Robak, Tadeusz; Saven, Alan; Seymour, John F.; Tadmor, Tamar; Tallman, Martin S.; Tam, Constantine; Tiacci, Enrico; Troussard, Xavier; Zent, Clive S.; Zenz, Thorsten; Zinzani, Pier Luigi; Falini, Brunangelo

2017-01-01

Hairy cell leukemia is an uncommon hematologic malignancy characterized by pancytopenia and marked susceptibility to infection. Tremendous progress in the management of patients with this disease has resulted in high response rates and improved survival, yet relapse and an appropriate approach to re-treatment present continuing areas for research. The disease and its effective treatment are associated with immunosuppression. Because more patients are being treated with alternative programs, comparison of results will require general agreement on definitions of response, relapse, and methods of determining minimal residual disease. The development of internationally accepted, reproducible criteria is of paramount importance in evaluating and comparing clinical trials to provide optimal care. Despite the success achieved in managing these patients, continued participation in available clinical trials in the first-line and particularly in the relapse setting is highly recommended. The Hairy Cell Leukemia Foundation convened an international conference to provide common definitions and structure to guide current management. There is substantial opportunity for continued research in this disease. In addition to the importance of optimizing the prevention and management of the serious risk of infection, organized evaluations of minimal residual disease and treatment at relapse offer ample opportunities for clinical research. Finally, a scholarly evaluation of quality of life in the increasing number of survivors of this now manageable chronic illness merits further study. The development of consensus guidelines for this disease offers a framework for continued enhancement of the outcome for patients. PMID:27903528

Appendiceal hemorrhage -- an uncommon cause of lower gastrointestinal bleeding.

PubMed

Chiang, Ching-Chung; Tu, Chi-Wen; Liao, Chi-Szu; Shieh, Min-Chieh; Sung, Tien-Chou

2011-06-01

Lower gastrointestinal bleeding is a common disease among elderly patients. The common sources of lower gastrointestinal bleeding include vascular disease, Crohn's disease, neoplasms, inflammatory bowel disease, hemorrhoids, and ischemic colitis. Lower gastrointestinal bleeding arising from the appendix is an extremely rare condition. We report a case of appendiceal hemorrhage in a young male. Diagnosis was made by multidetector computerized tomography during survey for hematochezia. The patient recovered well after appendectomy. The histological finding revealed focal erosion of appendix mucosa with bleeding. Copyright © 2011. Published by Elsevier B.V.

Jaundice and life-threatening hemobilia: an uncommon presentation of choledochal cyst.

PubMed

Koh, Peng Soon; Yoong, Boon Koon; Vijayananthan, Anushya; Nawawi, Ouzreiah; Mahadeva, Sanjiv

2013-08-01

Hemobilia with jaundice as a result of cholestasis and bleeding from choledochal cyst is uncommon. Ascertaining the diagnosis is often challenging and delayed diagnosis can lead to significant consequences due to hemodynamic instability, particularly in elderly patients. Although surgery remains the definitive treatment modality, interventional radiology for hemostasis has been increasingly recognized as an option. In this manuscript, we described two Malaysian cases of jaundice and hemobilia associated with choledochal cysts and the challenges related with clinical diagnosis and management. © 2013 The Authors. Journal of Digestive Diseases © 2013 Wiley Publishing Asia Pty Ltd and Chinese Medical Association Shanghai Branch, Chinese Society of Gastroenterology, Renji Hospital Affiliated to Shanghai Jiaotong University School of Medicine.

Recurrence of primary extramedullary plasmacytoma in breast both simulating primary breast carcinoma

PubMed Central

Kaviani, Ahmad; Djamali-zavareie, Mansoor; Noparast, Maryam; Keyhani-Rofagha, Sedigheh

2004-01-01

Background Extramedullary myelomas (plasmacytoma) are malignant proliferations of plasma cells in the absence of bone involvement. When they occur in the soft tissue they usually involve the upper respiratory tract and oral cavity. Extramedullary plasmacytomas of breast are uncommon. Case presentation A 70 year-old woman with bilateral breast masses underwent excisional biopsy for suspected primary carcinoma that subsequently proved to be a recurrence from extramedullary plasmacytoma of the mediastinum. This was diagnosed and treated 5-years prior to appearance of breast lumps. Conclusion Though uncommon, considering the possibility of metastatic carcinoma and primary, secondary or recurrent lymphoproliferative disease presenting as a breast mass may avoid unnecessary surgeries. PMID:15339332

Epidural mass due to aspergillus flavus causing spinal cord compression--a case report and brief update.

PubMed

Tendolkar, U; Sharma, A; Mathur, M; Ranadive, N; Sachdev, M

2005-07-01

Aspergillus infection of the central nervous system (CNS) is an uncommon disease. Most of the reported cases are of sinocranial spread and cases with contiguous spread to spinal cord from lung and other organs are uncommon. A case of pulmonary aspergillosis with extension to thoracic vertebrae forming a paraspinal mass resulting in neurological deficit due to Aspergillus flavus, is reported. The 43 year old patient did not have any obvious predisposing condition. He presented with loss of motor function and succumbed to the infection despite operative intervention and antifungal therapy. A brief update on CNS aspergillosis is presented along with detailed clinical, radiological and laboratory work up of the patient.

Cerebral Fat Embolism After Video-Assisted Thoracic Surgery.

PubMed

Scarpino, Maenia; Lanzo, Giovanni; Cappelli, Francesco; Moretti, Marco; Misuri, Gianni; Voltolini, Luca; Pistolesi, Massimo; Amantini, Aldo; Grippo, Antonello

2016-11-01

Cerebral fat embolism (CFE) is an uncommon disease occurring mainly after traumatic lower limb long bone fractures. A 64-year-old woman with pneumonia and bilateral pleural effusion underwent video-assisted thoracic surgery (VATS). After 3 days, the patient had an acute decrease in consciousness level followed by the onset of seizures and right hemiparesis. Brain computed tomography and magnetic resonance imaging showed findings suggestive of CFE. CFE occurring after an uncommon nontraumatic cause of fat embolism, such as VATS, is a rare clinical event whose diagnosis could be challenging. Neuroimaging can hasten diagnosis and prevent other unnecessary investigations and treatments. Copyright © 2016 The Society of Thoracic Surgeons. Published by Elsevier Inc. All rights reserved.

Adult fulminant subacute sclerosing panencephalitis: pathological and molecular studies--a case report.

PubMed

Souraud, J B; Faivre, A; Waku-Kouomou, D; Gaillard, T; Aouad, N; Meaudre, E; Wild, F T; Fouet, B; Soulard, R

2009-01-01

Subacute sclerosing panencephalitis is an uncommon progressive neurological disorder caused by a persistent defective measles virus, typically affecting children. We describe a case of fulminant subacute sclerosing panencephalitis in a 25-year-old male. Brain tissue biopsy showed histologic evidence of encephalitis with eosinophilic intranuclear inclusion bodies (Cowdry Type A and B), intracytoplasmic inclusion bodies, perivascular lymphoplasmacytic infiltration and gliosis. Immunohistochemical studies were positive using an anti-measles antibody. Reverse transcriptase-PCR detected measles virus RNA and phylogenetic analysis indicated a C2 genotype. The rare adult-onset form is often atypical and difficult to diagnose and should be included in the differential diagnosis of subacute "unexplained" neurological diseases and uncommon infectious disorders.

Addison's disease as a presentation of metastatic malignant melanoma.

PubMed

Srinivasan, B; Patel, M; Ethunandan, M; Ilankovan, V

2016-01-01

Melanoma accounts for 5% of all skin cancers. The risk of metastasis is related to the thickness of the tumour, and can affect local, regional and distant sites. Adrenal metastasis from melanoma of the head and neck is uncommon and often asymptomatic. Addison's disease as a presentation of metastatic melanoma is extremely rare and we are unaware of previous reports in the world literature. We report a case of a patient with metastatic melanoma presenting with signs and symptoms of Addison's disease.

Renal Lymphoma: Primary or First Manifestation of Aggressive Pediatric B-cell Lymphoma.

PubMed

Coca, Pragnya; Linga, Vijay Gandhi; Gundeti, Sadashivudu; Tandon, Ashwani

2017-01-01

Renal lymphoma is an uncommon renal tumor in children. Unlike renal lymphomas presenting as bilateral disease and renal failure, we report a boy who presented with unilateral renal involvement. After initial nephrectomy, he achieved remission with multiagent chemotherapy but relapsed systemically within 3 months. He was initiated on salvage chemotherapy with autologous bone marrow transplant. Even though the initial manifestation was localized lymphoma eventually, it turned out to be a systemic disease. He succumbed to disease at 14 months from diagnosis.

Red Rashes of the Vulva.

PubMed

Morrison, Lynne H; Leclair, Catherine M

2017-09-01

Red patches and plaques of the vulva may be manifestations of neoplasms, infections, or inflammatory skin diseases. These diseases can mimic one another clinically; features that generally allow the diseases to be identified on most cutaneous surfaces can be altered in the moist, occluded vulvar environment, making clinical diagnosis difficult. A detailed history and thorough physical examination can point to the likely diagnosis, but biopsy and culture may be needed for diagnosis especially in refractory disease. It is not uncommon for several of these processes to be present concomitantly or complicating other vulvar diseases. Copyright © 2017 Elsevier Inc. All rights reserved.

Castleman's disease presenting as a pleural tumor: a case report with CT findings.

PubMed

Doo, Kyung Won; Kim, Bomi

2018-02-01

Castleman's disease (CD) is an uncommon benign lymphoproliferative disorder which most commonly involves the mediastinum but rarely affects the pleura. We report a case of unicentric CD that presents as a pleural mass in a 45-year-old man, which was subsequently resected followed by an unexpected diagnosis on histologic examination. Although rare, CD should be included in the differential diagnosis of well-enhancing pleural mass.

Non Hodgkin lymphoma of the ureter: a rare disease.

PubMed

Celia, Antonio; De Stefani, Stefano; Bruschi, Morgan; Micali, Salvatore; Sighinolfi, Maria Chiara; Bianchi, Giampaolo

2004-12-01

Non urotelial malignant neoplasm of the ureter has been rarely described, usually arising from muscular, vascular and nervous tissue. Primary lymphoma of the ureter is an uncommon finding; we report a case of primary Non Hodgkin Lymphoma of the ureter in young woman.

Non-tuberculous Mycobacterial Infections in Thoracic Transplant Candidates and Recipients.

PubMed

Rao, Mana; Silveira, Fernanda P

2018-05-12

To review and discuss the epidemiology, risk factors, clinical presentation, diagnosis, and treatment of non-tuberculous mycobacteria (NTM) in thoracic transplantation. Non-tuberculous mycobacteria are ubiquitous but are an uncommon cause of disease after solid organ transplantation. The incidence of infection is higher in thoracic transplant recipients than in abdominal transplant recipients, with most cases seen after lung transplantation. It is associated with increased morbidity and, occasionally, mortality. Infection in the pre-transplant setting can occur in lung transplant candidates, often posing a dilemma regarding transplant listing. Disease manifestations are diverse, and pulmonary disease is the most common. Diagnosis requires a high index of suspicion. Treatment requires a multiple-drug combination and is limited by drug-drug interactions and tolerability. Mycobacterium abscessus is a challenge in lung transplant recipients, due to its intrinsic resistance and propensity to relapse even after prolonged therapy. Mycobacterium chimaera is an emerging pathogen associated with contamination of heater-cooler units and is described to cause disease months after cardiothoracic surgery. NTM infections in thoracic organ transplant recipients are uncommon but are associated with substantial morbidity and mortality. Data from larger multicenter studies is needed to better define the epidemiology of NTM in thoracic transplantation, best treatment options, and the management of infected transplant candidates.

Metastatic breast disease from cutaneous malignant melanoma.

PubMed

Moschetta, Marco; Telegrafo, Michele; Lucarelli, Nicola Maria; Martino, Gianluigi; Rella, Leonarda; Stabile Ianora, Amato Antonio; Angelelli, Giuseppe

2014-01-01

Malignant melanoma is one of the most rapidly increasing cancer in the world. Breast metastases from melanoma are uncommon but could reflect a widespread disease. We report a case of malignant widespread melanoma presenting with bilateral breast nodules in a 39 year-old pre-menopausal Caucasian woman with an history of cutaneous melanoma of the trunk. Breast clinical examination revealed the presence of a hard and mobile lump located on the left breast. Ultrasound detected two bilateral nodules corresponding to oval opacities with well-defined edges and without calcifications or architectural distortion on mammography. Fine needle aspiration cytology performed on both breast nodules confirmed that the breast lesions were metastases from primary cutaneous malignant melanoma. A total-body CT examination detected brain, lung and abdominal lymph nodes metastases. The breast represents an uncommon site of metastatic disease from extra-mammary tumors. Imaging features of breast metastases from melanoma usually do not allow a differential diagnosis with breast primary tumors. Breast metastases may be asymptomatic or palpable as dense and well-circumscribed nodules. Breast metastases indicate a widespread disease and should lead to avoid aggressive surgical procedures because of the poor prognosis of patients affected by metastatic melanoma. The detection of bilateral breast metastases from melanoma is highly suggestive of metastatic multi-organ disease and could be useful to address the therapeutic approach. Copyright © 2013 The Authors. Published by Elsevier Ltd.. All rights reserved.

Spontaneous Coronary Artery Dissection: A Disease-Specific, Social Networking Community–Initiated Study

PubMed Central

Tweet, Marysia S.; Gulati, Rajiv; Aase, Lee A.; Hayes, Sharonne N.

2011-01-01

OBJECTIVE: To develop and assess the feasibility of a novel method for identification, recruitment, and retrospective and prospective evaluation of patients with rare conditions. PATIENTS AND METHODS: This pilot study is a novel example of “patient-initiated research.” After being approached by several members of an international disease-specific support group on a social networking site, we used it to identify patients who had been diagnosed as having at least 1 episode of spontaneous coronary artery dissection and recruited them to participate in a clinical investigation of their condition. Medical records were collected and reviewed, the original diagnosis was independently confirmed by review of imaging studies, and health status (both interval and current) was assessed via specially designed questionnaires and validated assessment tools. RESULTS: Recruitment of all 12 participants was complete within 1 week of institutional review board approval (March 18, 2010). Data collection was completed November 18, 2010. All participants completed the study questionnaires and provided the required medical records and coronary angiograms and ancillary imaging data. CONCLUSION: This study involving patients with spontaneous coronary artery dissection demonstrates the feasibility of and is a successful model for developing a “virtual” multicenter disease registry through disease-specific social media networks to better characterize an uncommon condition. This study is a prime example of patient-initiated research that could be used by other health care professionals and institutions. PMID:21878595

Spontaneous coronary artery dissection: a disease-specific, social networking community-initiated study.

PubMed

Tweet, Marysia S; Gulati, Rajiv; Aase, Lee A; Hayes, Sharonne N

2011-09-01

To develop and assess the feasibility of a novel method for identification, recruitment, and retrospective and prospective evaluation of patients with rare conditions. This pilot study is a novel example of "patient-initiated research." After being approached by several members of an international disease-specific support group on a social networking site, we used it to identify patients who had been diagnosed as having at least 1 episode of spontaneous coronary artery dissection and recruited them to participate in a clinical investigation of their condition. Medical records were collected and reviewed, the original diagnosis was independently confirmed by review of imaging studies, and health status (both interval and current) was assessed via specially designed questionnaires and validated assessment tools. Recruitment of all 12 participants was complete within 1 week of institutional review board approval (March 18, 2010). Data collection was completed November 18, 2010. All participants completed the study questionnaires and provided the required medical records and coronary angiograms and ancillary imaging data. This study involving patients with spontaneous coronary artery dissection demonstrates the feasibility of and is a successful model for developing a "virtual" multicenter disease registry through disease-specific social media networks to better characterize an uncommon condition. This study is a prime example of patient-initiated research that could be used by other health care professionals and institutions.

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

PubMed

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

2014-01-01

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

Mask face: bilateral simultaneous facial palsy in an 11-year-old boy.

PubMed

Güngör, Serdal; Güngör Raif, Sabiha; Arslan, Müjgan

2013-04-01

Bilateral facial paralysis is an uncommon clinical entity especially in the pediatric age group and occurs frequently as a manifestation of systemic disease. The most important causes are trauma, infectious diseases, neurological diseases, metabolic, neoplastic, autoimmune diseases and idiopathic disease (Bell's palsy). We report a case of an 11-year-old boy presenting with bilateral simultaneous peripheral facial paralysis. All possible infectious causes were excluded and the patient was diagnosed as having Bell's palsy (idiopathic). The most important approach in these cases is to rule out a life-threatening disease. © 2013 The Authors. Pediatrics International © 2013 Japan Pediatric Society.

Clinicopathologic study of succinate-dehydrogenase-deficient gastrointestinal stromal tumors: A single-institutional experience in China.

PubMed

Liu, Weizhen; Zeng, Xiangyu; Wu, Xiuli; He, Jun; Gao, Jinbo; Shuai, Xiaoming; Wang, Guobin; Zhang, Peng; Tao, Kaixiong

2017-08-01

Gastrointestinal stromal tumors (GISTs) that are not driven by kinase mutations, as are most GISTs, often show loss of function of the succinate dehydrogenase (SDH) complex and are considered SDH-deficient GISTs. SDH-deficient GISTs share many distinct characteristics compared with conventional GISTs. However, data regarding these characteristics, particularly among Asian people, are relatively limited. The objective of this study was to characterize the clinicopathologic characteristics, treatment, and prognosis of these uncommon GISTs.This retrospective observational study enrolled 12 patients with SDH-deficient GISTs, who were selected from 335 patients with GIST diagnosed at our institution between October 31, 2013 and October 31, 2016 by succinate dehydrogenase subunit B staining.There were 8 male and 4 female patients, with a median age of 57 years (range, 21-73 years). Ten patients (83.3%) were diagnosed at or after the age of 40 years and represented 7.2% (10/138) of the entire population of elderly patients with gastric GISTs. The tumor size ranged from 3 to 19 cm (median, 7 cm); the primary tumor was multifocal in 6 cases (50%), and tumors had a multinodular or plexiform architecture in 10 cases (83.3%). Ten cases (83.3%) showed pure epithelioid morphology, with the remaining 2 cases (16.7%) showing mixed histologic subtype. Lymph node metastasis was found at the time of primary resection in 50% (3/6) of patients. Four cases (33.3%) had distant metastasis at presentation. Four patients (33.3%) developed disease progression during imatinib treatment after initial resection, but all of these patients regained disease control when the treatment was altered to sunitinib targeted therapy.SDH-deficient GISTs arise exclusively in the stomach and account for approximately 7.4% (12/162) of gastric GISTs. Moreover, those affecting people older than 40 years are not uncommon and sunitinib may work well for cases showing treatment failure with imatinib.

First isolation of the Stephanoascus ciferrii in feline otitis in Brazil.

PubMed

Gomes, Angelita dos Reis; Cabana, Ângela Leitzke; Osório, Luiza da Gama; Santin, Rosema; Schuch, Isabel Duarte; Serra, Emanoele Figueiredo; Nascente, Patrícia Silva; Meireles, Mário Carlos Araújo

2014-01-01

Ear infections in cats are uncommon, especially involving yeasts. This report describes the first isolation of the Stephanoascus ciferrii, teleomorph of the Candida genus, in a case of feline otitis in Brazil. The identification and characterization of Stephanoascus ciferrii were confirmed by the Vitek2 System (BioMerieux ®).

Hemicrania Continua: A Clinical Study of 39 Patients with Diagnostic Implications

ERIC Educational Resources Information Center

Cittadini, Elisabetta; Goadsby, Peter J.

2010-01-01

Hemicrania continua is an uncommon primary headache disorder, characterized by continuous unilateral pain, where pain exacerbations are associated with cranial autonomic features. The hallmark of this condition is the absolute response to indometacin. We describe the phenotype of this condition in a large series of patients. Thirty-six (92%)…

Uncommon localizations of hydatid cyst. Review of the literature.

PubMed

Salamone, G; Licari, L; Randisi, B; Falco, N; Tutino, R; Vaglica, A; Gullo, R; Porello, C; Cocorullo, G; Gulotta, G

2016-01-01

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. 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. 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. 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.

Targeted Approaches Applied to Uncommon Diseases: A Case of Salivary Duct Carcinoma Metastatic to the Brain Treated with the Multikinase Inhibitor Neratinib

PubMed Central

Sorenson, Karl R.; Piovezani Ramos, Guilherme; Villasboas Bisneto, Jose Caetano; Price, Katharine

2017-01-01

Salivary duct carcinoma is a rare malignancy associated with hormone receptor and human epidermal growth factor receptor 2 (HER2) overexpression. Local surgical control is the cornerstone of therapy, but a subset of patients develops metastatic disease portending a poor prognosis and limited management options. Intracranial metastases are an uncommon manifestation and present a therapeutic challenge. We report the case of a 31-year-old male who presented with facial pain and swelling subsequently diagnosed with salivary duct carcinoma. Our patient underwent extensive locoregional resection and analysis of the tumor tissue demonstrated evidence of androgen receptor expression and HER2 overexpression. His course was complicated by metastatic extra- and intracranial recurrence despite combined modality treatment with radiation and chemotherapy followed by anti-HER2 monoclonal antibody therapy and androgen deprivation therapy. After exhausting standard treatment options, he received experimental therapy with a new small-molecule tyrosine kinase inhibitor, neratinib, with evidence of a transient clinical response and no significant adverse effects. This case exemplifies the potential and limitations of targeted therapy, particularly when applied to patients with rare diseases and presentations. PMID:28878657

Targeted Approaches Applied to Uncommon Diseases: A Case of Salivary Duct Carcinoma Metastatic to the Brain Treated with the Multikinase Inhibitor Neratinib.

PubMed

Sorenson, Karl R; Piovezani Ramos, Guilherme; Villasboas Bisneto, Jose Caetano; Price, Katharine

2017-01-01

Salivary duct carcinoma is a rare malignancy associated with hormone receptor and human epidermal growth factor receptor 2 (HER2) overexpression. Local surgical control is the cornerstone of therapy, but a subset of patients develops metastatic disease portending a poor prognosis and limited management options. Intracranial metastases are an uncommon manifestation and present a therapeutic challenge. We report the case of a 31-year-old male who presented with facial pain and swelling subsequently diagnosed with salivary duct carcinoma. Our patient underwent extensive locoregional resection and analysis of the tumor tissue demonstrated evidence of androgen receptor expression and HER2 overexpression. His course was complicated by metastatic extra- and intracranial recurrence despite combined modality treatment with radiation and chemotherapy followed by anti-HER2 monoclonal antibody therapy and androgen deprivation therapy. After exhausting standard treatment options, he received experimental therapy with a new small-molecule tyrosine kinase inhibitor, neratinib, with evidence of a transient clinical response and no significant adverse effects. This case exemplifies the potential and limitations of targeted therapy, particularly when applied to patients with rare diseases and presentations.

Imaging Review of Skeletal Tumors of the Pelvis Malignant Tumors and Tumor Mimics

PubMed Central

Girish, Gandikota; Finlay, Karen; Fessell, David; Pai, Deepa; Dong, Qian; Jamadar, David

2012-01-01

Malignant lesions of the pelvis are not uncommon and need to be differentiated from benign lesions and tumor mimics. Appearances are sometimes nonspecific leading to consideration of a broad differential diagnosis. Clinical history, anatomic location, and imaging characterization can help narrow the differential diagnosis. The focus of this paper is to demonstrate the imaging features and the role of plain films, computed tomography, and magnetic resonance imaging for detecting and characterizing malignant osseous pelvic lesions and their common mimics. PMID:22593667

Persistent scarring, atrophy, and dyspigmentation in a preteen girl with neonatal lupus erythematosus.

PubMed

High, Whitney A; Costner, Melissa I

2003-04-01

Neonatal lupus erythematosus is an uncommon autoimmune disease with distinctive cutaneous findings. Descriptions of chronic cutaneous sequelae are rare. We describe a 12-year-old girl with persistent dyspigmentation, scarring, and atrophy as a result of neonatal lupus occurring during infancy.

Special coverage of 41st IDSA conference. Study: Syphilitic hepatitis connected to liver disease. Diagnosis is uncommon, but does occur.

PubMed

2003-12-01

Investigators in Washington, DC, have discovered cases of HIV patients who have significant liver dysfunction that is caused by secondary syphilis instead of the usual suspects--hepatitis C, medication side effects, and substance abuse.

SOX2 anophthalmia syndrome and dental anomalies.

PubMed

Chacon-Camacho, Oscar Francisco; Fuerte-Flores, Bertha Irene; Ricardez-Marcial, Edgar F; Zenteno, Juan Carlos

2015-11-01

SOX2 anophthalmia syndrome is an uncommon autosomal dominant syndrome caused by mutations in the SOX2 gene and clinically characterized by severe eye malformations (anophthalmia/microphthalmia) and extraocular anomalies mainly involving brain, esophagus, and genitalia. In this work, a patient with the SOX2 anophthalmia syndrome and exhibiting a novel dental anomaly is described. SOX2 genotyping in this patient revealed an apparently de novo c.70del20 deletion, a commonly reported SOX2 mutation. A review of the phenotypic variation observed in patients carrying the recurrent SOX2 c.70del20 mutation is presented. Although dental anomalies are uncommonly reported in the SOX2 anophthalmia syndrome, we suggest that a dental examination should be performed in patients with SOX2 mutations. © 2015 Wiley Periodicals, Inc.

Posterior reversible encephalopathy syndrome in IgA vasculitis: Neuroimaging of a 14-year-old child.

PubMed

Arslan, Harun; Yavuz, Alpaslan; Arslan, Ayşe; Aycan, Abdurrahman

IgA vasculitis (IgAV) is a leukocytoclastic vasculitis and characterized by involvement of small vessels in skin, gastrointestinal system, joints, kidneys, and less frequently other organs. It is the commonest vasculitis in childhood and etiology is not completely known. Neurological manifestations of IgAV are very rare and usually seen in patients with severe hypertension or as an uncommon feature such as peripheral neuropathy. Posterior reversible encephalopathy syndrome (PRES) is a clinic-radiologic entity characterized with temporary vasogenic edema developing typically in posterior circulation of the brain and has been reported as a rare manifestation of IgAV. In this paper, a PRES case of 14-year-old male with IgAV is reported and etiopathogenesis was discussed with literature. Diagnosis was made by magnetic resonance imaging because of the existence of neurological symptoms (headache and visual loss) during the course of disease. His radiological findings have resolved with therapy. Although neurological involvement is a rare manifestation in IgAV, we recommend magnetic resonance imaging in such patients for diagnosis and evaluation of complications. Copyright © 2017. Published by Elsevier Urban & Partner Sp. z o.o.

[Approach to diagnosis and management of myeloproliferative neoplasm variants].

PubMed

Mitsumori, Toru; Kirito, Keita

2015-08-01

Myeloproliferative neoplasm (MPN) variants are defined as relatively uncommon myeloid neoplasms which do not meet the criteria for either classical MPN or myelodysplastic syndrome. Due to the lack of specific markers, it has been challenging to accurately diagnose these malignant diseases. Recent studies have revealed new genetic abnormalities in MPN variants. These research advances are anticipated to open new approaches to not only achieving accurate diagnosis but also novel therapeutic options for these diseases.

New onset of idiopathic bilateral ear tics in an adult.

PubMed

Agrawal, Amit; Shrestha, Rabin

2009-04-01

Tic disorders are commonly considered to be childhood syndromes. Newly presenting tic disorders during adulthood are uncommon and mostly described in relation to an acquired brain lesion or as incidental tics, particularly in context with other neurological or psychiatric diseases. Tic disorder involving the ears is extremely uncommon with only few studies in English literature. In the present case, we describe an adult patient with new-onset idiopathic tics disorder involving both ears, causing social embarrassment. In addition, our patient had recent onset of the tics without any childhood or family history of tic disorders. The single most important component of management is an accurate diagnosis. At the same time, tics should be differentiated from other movement disorders such as chorea, stereotypy, and dystonias.

Legionnaire's Disease Since Philadelphia: Lessons Learned and Continued Progress.

PubMed

Cunha, Cheston B; Cunha, Burke A

2017-03-01

Legionnaire's disease has been recognized as a cause of severe community-acquired pneumonia (CAP). Legionnaire's disease has characteristic extrapulmonary findings that are the basis for a presumptive clinical diagnosis. The widespread use of Legionella culture, sputum DFA, serology, urinary antigen testing, and polymerase chain reaction have allowed earlier diagnosis of Legionnaire's disease. Excluding common source outbreaks, CAP caused by Legionnaire's disease is manifested as sporadic cases. In contrast, nosocomial Legionnaire's disease occurs in clusters or outbreaks from common Legionella species-contaminated water sources. Improved diagnostic tests have permitted accurate diagnosis. Bacterial coinfections with Legionnaire's disease are uncommon, but when present, are most often associated with bacteremia pneumococcal pneumonia. Copyright © 2016 Elsevier Inc. All rights reserved.

Hantavirus pulmonary syndrome.

PubMed

Simpson, Steven Q; Spikes, Leslie; Patel, Saurin; Faruqi, Ibrahim

2010-03-01

Hantavirus pulmonary syndrome, also known as hantavirus cardiopulmonary syndrome, is a recently described infectious syndrome found throughout the Americas. Although infection is sporadic and uncommon compared with other atypical pneumonia syndromes, its high mortality rate warrants the maintenance of a high index of suspicion in rural settings. Because no specific therapies are available for the disease, prevention and early recognition play an important role in reducing mortality from the disease. This article reviews the nature of the viruses that cause hantavirus pulmonary syndrome, the epidemiology and ecology of disease transmission, and disease recognition, treatment, and prevention. Copyright 2010 Elsevier Inc. All rights reserved.

Cryptococcal osteomyelitis: a report of 5 cases and a review of the recent literature.

PubMed

Medaris, Leigh Ann; Ponce, Brent; Hyde, Zane; Delgado, Dennis; Ennis, David; Lapidus, William; Larrison, Matthew; Pappas, Peter G

2016-06-01

Cryptococcus neoformans is a fungal pathogen associated with advanced HIV disease and other disorders associated with immune dysfunction. The pulmonary and the central nervous system are the most common manifestations of the disease. Localised osteomyelitis as the sole manifestation of extrapulmonary disease is rare. Herein, we present five cases of Cryptococcus osteomyelitis as the only manifestation of extrapulmonary disease. We also identified 84 additional cases of isolated cryptococcal osteomyelitis in the literature. Using these data, we have made some general recommendations regarding an approach to treatment of this uncommon clinical entity. © 2016 Blackwell Verlag GmbH.

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

Bishop, A.F.; Destouet, J.M.; Murphy, W.A.

A case of tumoral calcinosis is presented. The characteristic clinical, radiologic, and pathologic features of this uncommon disease are described and the various speculations about its etiology are examined, based on a review of the approximately 150 cases which comprise the world literature concerning this desease. The differential diagnosis of periarticular calcified soft tissue masses is discussed.

[Riedel thyroiditis: two cases report].

PubMed

Zhou, Rongjin; Wang, Junguo

2014-10-01

Riedel thyroiditis is a benign disease, which is often self-limited. Examinations, such as CT and histologic diagnosis can distinguish it from malignant neoplasms and hashimoto's thyroiditis. Riedel thyroiditis is an uncommon form of chronic thyroiditis in which the thyroid gland is replaced by fibrous tissue. It can be cured by surgery and medicine.

Primary pelvic hydatid cyst with sciatic compression.

PubMed

Nouira, F; Chouikh, T; Charieg, A; Ghorbel, S; Jlidi, S; Chaouachi, B

2011-01-01

Hydatid cysts are endemic in certain regions of the world and particulary in North Africa. They are usually located in the liver, lung, and spleen, though many uncommon locations have been reported. This is the first report of a child with primary pelvic hydatid disease causing a sciatic compression.

A case of acute infectious mononucleosis presenting with very high ferritin

PubMed Central

Thoufeeq, Muhammed Hameed; Ali Khan, Shahul Leyakath; Jain, Sanjiv Kumar; Al-Shakerchi, Hasanain; Hussain, Munem

2007-01-01

Hepatitis is an important but uncommon manifestation of acute Epstein Barr infection. Infectious mononucleosis is usually a disease of young adults. We report a case of infectious mononucleosis in a 72-year old jaundiced gentleman with ferritin level of 2438 that normalised on clinical improvement. PMID:17278235

Fibular hydatid cyst

PubMed Central

Arti, Hamidreza; Darani, Hossein Yousofi

2007-01-01

Hydatid disease is caused by the tapeworm Echinococcus. Genus Echinococcus has different species including Echinococcus vogeli, Echinococcus granulosus and Echinococcus multilucularis. Echinococcus granulosus is the most common cause of hydatid disease in humans. This disease occurs either through direct ingestion of parasite eggs from contact with infected dogs or indirectly from the ingestion of contaminated water or food. Infestation of hydatid disease in humans most commonly occurs in the liver (55-70%), followed by the lungs (18-35%). Bone hydatidosis however is very rare (3%). We present herein a case of hydatid cyst of the fibula, which is an uncommon site for the occurrence of this disease. PMID:21139754

Chronic granulomatous disease mimicking early-onset Crohn's disease with cutaneous manifestations.

PubMed

Barbato, Maria; Ragusa, Giovanni; Civitelli, Fortunata; Marcheggiano, Adriana; Di Nardo, Giovanni; Iacobini, Metello; Melengu, Taulant; Cucchiara, Salvatore; Duse, Marzia

2014-06-20

Chronic granulomatous disease is a rare inherited disorder of the innate immune system. In patients with a clinical history of recurrent or persistent infections, especially infections caused by uncommon species, chronic granulomatous disease should be considered. We report the case of a 5-year-old boy with a presumptive diagnosis of Crohn's disease with extraintestinal manifestations. Chronic granulomatous disease was suspected in this case after Serratia marcescens was isolated from a skin ulcer culture. Granulomas were confirmed on histology and chronic granulomatous disease was diagnosed. This case emphasizes the importance of high clinical suspicion of an alternative diagnosis of immune deficiency in patients with presumed inflammatory bowel disease and opportunistic infections, especially when disease occurs in early life.

[Pyoderma gangrenosum and hemopathies. Apropos of 2 cases].

PubMed

Doutre, M S; Beylot, C; Beylot, J; Broustet, A; Reiffers, J; Busquet, M; Barberis, C; Garabiol, B

1987-01-01

Pyoderma gangrenosum (PG) is an uncommon ulcerative disease of the skin. The cause is unknown but the condition is often associated with other diseases such as rheumatoid arthritis, ulcerative colitis, Crohn's disease or monoclonal gammopathy. The association between PG and haematological malignancies (acute leukaemia, Myeloproliferative disorders) is infrequent. Two cases of PG associated with haemopathy are described; one had primary thrombocythaemia and the other, acute myeloblastic leukaemia following for myeloma. The significance of this association is discussed in the light of other observations previously reported in the literature.

Probable Vogt-Koyanagi-Harada's syndrome associated with tonic pupils.

PubMed

Narang, S; Sood, S; Malik, A

2010-01-01

Pupillary abnormalities with complete or incomplete form of VKH have rarely been reported. We report a case of "probable" Vogt- Koyanagi-Haradas (VKH) disease associated with tonic pupils. A young healthy male presented with 15 days' history of bilateral decrease in vision. The patient had bilateral panuveitis with exudative retinal detachment associated with tonic pupils. There were no other systemic associations. The ultrasonography and fluorescein angiography findings were consistent with VKH disease. Pupillary reaction abnormalities though uncommon could be seen in association with "probable" VKH disease. © Nepal Ophthalmic Society.

Acantholytic dermatosis of the vulva.

PubMed

Mansura, Adva; Maly, Alexander; Ramot, Yuval; Zlotogorski, Abraham

2015-05-18

Acantholytic dermatosis of the vulva is a rare condition, presenting with papular eruption in the genital area without history of Darier disease or Hailey-Hailey disease. We report a case with a papular pruritic eruption in the region of the vulva, coalescing into plaques. Biopsy specimen showed irregular acanthosis with an area of split-like bullous formation in the deeper part of the epidermis, as well as acantholytic cells, marked hypergranulosis and hyperkeratosis, compatible with the rare diagnosis of acantholytic dermatosis of the vulva. We review the clinical and histological characteristics of this uncommon disease.

Acute Splenic Sequestration Crisis in Adult Sickle Cell Disease: A Report of 16 Cases.

PubMed

Naymagon, Leonard; Pendurti, Gopichand; Billett, Henny H

2015-01-01

Acute splenic sequestration crisis (ASSC), characterized by rapidly progressive anemia and circulatory compromise in the setting of sudden splenic enlargement, is an uncommon entity among adult sickle cell patients. We reviewed cases of adult ASSC encountered at our institution to generate insight into the recognition, diagnosis, and treatment of the condition. Cases of adult ASSC during a 10-year period were identified retrospectively. Patient charts were reviewed for laboratory and imaging results; demographic data and clinical course were collected and reviewed. Sixteen cases of adult ASSC were identified. Most patients presented with pain crisis; only four of 16 patients presented with abdominal pain. The maximum decreases in hemoglobin (Hb) (42.0%) and platelets (62.1%) occurred at day 2.9, delaying identification and treatment. Hemodynamic instability played a large role in dictating risk stratification. Therapy consisted of transfusion (14/16) and splenectomy (5/16). No recurrences were noted in a mean follow-up time of 5.3 years but review of patients' charts demonstrated that at least one of the patients had two prior episodes. Adult ASSC may present with non specific findings and patients may not deteriorate until several days into a previously uneventful hospital course. Changes in platelet counts may be more reliable markers than changes in Hb level since red cell transfusions may interfere with assessments of the sequestration process. This case series of adult ASSC, the largest reported in the literature to date, highlights common clinical, laboratory, radiological, and pathological features of this uncommon entity and helps to guide recognition, diagnosis, and treatment.

Mucocele-Like Lesions of the Breast: Clinical Outcome and Histological Analysis of 102 Cases

PubMed Central

Meares, Annie L.; Frank, Ryan D.; Degnim, Amy C.; Vierkant, Robert A.; Frost, Marlene H.; Hartmann, Lynn C.; Winham, Stacey J.; Visscher, Daniel W.

2016-01-01

Mucocele-like lesions (MLL) of the breast are characterized by cystic architecture with stromal mucin and frequent atypia, but it is unknown whether they convey long term breast cancer risk. We evaluated 102MLL that were derived from a single institution benign breast disease (BBD) cohort of 13412 women who underwent biopsy from 1967–2001.MLL were histologically characterized by type of lining epithelium, architecture of the lesion, associated atypical hyperplasia (AH) and for incidence of breast cancer (14.8 years median follow-up). A relatively large proportion of MLL (42%) were diagnosed in women >55 years of age AH was significantly more frequent in MML patient compared to the cohort overall (27% vs 5%, p<0.001). Breast cancer has developed in 13 patients with MLL.. This frequency is only slightly higher than population expected rates overall (Standardized incidence ratio (SIR) 2.28, 95% CI 1.21–3.91), and not significantly different from women in the cohort with (non atypical) proliferative breast lesions. Younger women (<45) with MLL had a non-significant increase in risk of cancer compared to the general population (SIR 5.16, 95% CI 1.41–13.23). We conclude MLL is an uncommon breast lesion that is often associated with co-existing AH. However, in women over age 45, MLL do not convey additional risk of breast cancer beyond that associated with the presence of proliferative disease. PMID:26826407

Human lipodystrophies: genetic and acquired diseases of adipose tissue

PubMed Central

Capeau, Jacqueline; Magré, Jocelyne; Caron-Debarle, Martine; Lagathu, Claire; Antoine, Bénédicte; Béréziat, Véronique; Lascols, Olivier; Bastard, Jean-Philippe; Vigouroux, Corinne

2010-01-01

Human lipodystrophies represent a heterogeneous group of diseases characterized by generalized or partial fat loss, with fat hypertrophy in other depots when partial. Insulin resistance, dyslipidemia and diabetes are generally associated, leading to early complications. Genetic forms are uncommon: recessive generalized congenital lipodystrophies result in most cases from mutations in the genes encoding seipin or the 1-acyl-glycerol-3-phosphate-acyltransferase 2 (AGPAT2). Dominant partial familial lipodystrophies result from mutations in genes encoding the nuclear protein lamin A/C or the adipose transcription factor PPARγ. Importantly, lamin A/C mutations are also responsible for metabolic laminopathies, resembling the metabolic syndrome and progeria, a syndrome of premature aging. A number of lipodystrophic patients remain undiagnosed at the genetic level. Acquired lipodystrophy can be generalized, resembling congenital forms, or partial, as the Barraquer-Simons syndrome, with loss of fat in the upper part of the body contrasting with accumulation in the lower part. Although their aetiology is generally unknown, they could be associated with signs of auto-immunity. The most common forms of lipodystrophies are iatrogenic. In human immunodeficiency virus-infected patients, some first generation antiretroviral drugs were strongly related with peripheral lipoatrophy and metabolic alterations. Partial lipodystrophy also characterize patients with endogenous or exogenous long-term corticoid excess. Treatment of fat redistribution can sometimes benefit from plastic surgery. Lipid and glucose alterations are difficult to control leading to early occurrence of diabetic, cardio-vascular and hepatic complications. PMID:20551664

Cystic Neutrophilic Granulomatous Mastitis: Further Characterization of a Distinctive Histopathologic Entity Not Always Demonstrably Attributable to Corynebacterium Infection.

PubMed

D'Alfonso, Timothy M; Moo, Tracy-Ann; Arleo, Elizabeth K; Cheng, Esther; Antonio, Lilian B; Hoda, Syed A

2015-10-01

Granulomatous lobular mastitis (GLM) is an uncommon condition that typically occurs in parous, reproductive-aged women and can simulate malignancy on the basis of clinical and imaging features. A distinctive histologic pattern termed cystic neutrophilic granulomatous mastitis (CNGM) is seen in some cases of GLM and has been associated with Corynebacterium infection. We sought to further characterize the clinical, imaging, and histopathologic features of CNGM by studying 12 cases and attempted to establish the relationship of this disease with Corynebacterium infection. Patients were women ranging in age from 25 to 49 years (median: 34 y), and all presented with a palpable mass that was painful in half of the cases. In 2 of 9 cases, imaging was highly suspicious for malignancy (BI-RADS 5). CNGM was characterized by lobulocentric granulomas with mixed inflammation and clear vacuoles lined by neutrophils within granulomas. Gram-positive bacilli were identified in 5/12 cases. In 4 patients, the disease process worsened after the diagnostic core biopsy, with the development of a draining sinus in 2 cases. No growth of bacteria was seen in any microbial cultures. No bacterial DNA was identified by 16S rDNA polymerase chain reaction for 1 case that showed gram-positive bacilli on histology. Patients were treated with variable combinations of surgery, antibiotics, and steroids. The time to significant resolution of symptoms ranged from 2 weeks to 6 months. Similar to other forms of GLM, CNGM can mimic malignancy clinically and on imaging. When encountered in a needle core biopsy sample, recognition of the characteristic histologic pattern and its possible association with Corynebacterium infection can help guide treatment.

Anti-Type VII Collagen Antibodies Are Identified in a Subpopulation of Bullous Pemphigoid Patients With Relapse

PubMed Central

Giusti, Delphine; Gatouillat, Grégory; Le Jan, Sébastien; Plée, Julie; Bernard, Philippe; Antonicelli, Frank; Pham, Bach-Nga

2018-01-01

Bullous pemphigoid (BP) is an autoimmune bullous skin disease characterized by anti-BP180 and anti-BP230 autoantibodies (AAbs). Mucous membrane involvement is an uncommon clinical feature of BP which may evoke epidermolysis bullosa acquisita, another skin autoimmune disease characterized by anti-type VII collagen AAbs. We therefore evaluated the presence of anti-type VII collagen AAbs in the serum of BP patients with and without mucosal lesions at time of diagnosis and under therapy. Anti-BP180, anti-BP230, and anti-type VII collagen AAbs were measured by ELISA in the serum of unselected patients fulfilling clinical and histo/immunopathological BP criteria at baseline (n = 71) and at time of relapse (n = 24). At baseline, anti-type VII collagen AAbs were detected in 2 out of 24 patients with BP presenting with mucosal involvement, but not in patients without mucosal lesions (n = 47). At the time of relapse, 10 out of 24 BP patients either displayed a significant induction or increase of concentrations of anti-type VII collagen AAbs (P < 0.01), independently of mucosal involvement. Those 10 relapsing BP patients were also characterized by a sustained high concentration of anti-BP180 AAb, whereas the serum anti-BP230 AAb concentrations did not vary in BP patients with relapse according to the presence of anti-type VII collagen AAbs. Thus, our study showed that anti-type VII collagen along with anti-BP180 AAbs detection stratified BP patients at time of relapse, illustrating a still dysregulated immune response that could reflect a potential epitope spreading mechanism in those BP patients. PMID:29619029

Colonic cancer--hypotheses of causation, dietary prophylaxis, and future research.

PubMed

Walker, A R; Burkitt, D P

1976-10-01

Colonic cancer is rare in primitive populations. In western populations it was uncommon in the past, but now accounts for about 3% of all deaths. The cause almost certainly lies with dietary changes. Probably, alterations in bowel milieu interieur, from interaction between metabolites and microbacteria, promote carcinogenesis. Changes in intakes of protein, fat, sugar, refined cereal products, and crude fiber have been advanced as predisposing or causative factors. Evidence suggests that (i) fall in fiber intake, but (ii) rise in fat intake, in their ability to increase fecal concentrations of bile acids and sterols (possible precursors of carcinogens) are most likely to be culpable. As preventive measures, a significant rise in fiber intake is practicable only from regular bran ingestion. A major reduction in fat intake is grossly unlikely. Even were rigorous dietary changes implemented, an early fall in colonic cancer incidence is highly improbable due to the long-term character of the disease. Future research must include characterization of the diet, metabolism, and disease pattern of segments of western populations who have low colonic cancer mortality rates; also, elucidation of the bearing of various intakes of different food components on the biochemistry and microbiology of the feces.

Spontaneous pneumothorax in diffuse cystic lung diseases.

PubMed

Cooley, Joseph; Lee, Yun Chor Gary; Gupta, Nishant

2017-07-01

Diffuse cystic lung diseases (DCLDs) are a heterogeneous group of disorders with varying pathophysiologic mechanisms that are characterized by the presence of air-filled lung cysts. These cysts are prone to rupture, leading to the development of recurrent spontaneous pneumothoraces. In this article, we review the epidemiology, clinical features, and management DCLD-associated spontaneous pneumothorax, with a focus on lymphangioleiomyomatosis, Birt-Hogg-Dubé syndrome, and pulmonary Langerhans cell histiocytosis. DCLDs are responsible for approximately 10% of apparent primary spontaneous pneumothoraces. Computed tomography screening for DCLDs (Birt-Hogg-Dubé syndrome, lymphangioleiomyomatosis, and pulmonary Langerhans cell histiocytosis) following the first spontaneous pneumothorax has recently been shown to be cost-effective and can help facilitate early diagnosis of the underlying disorders. Patients with DCLD-associated spontaneous pneumothorax have a very high rate of recurrence, and thus pleurodesis should be considered following the first episode of spontaneous pneumothorax in these patients, rather than waiting for a recurrent episode. Prior pleurodesis is not a contraindication to future lung transplant. Although DCLDs are uncommon, spontaneous pneumothorax is often the sentinel event that provides an opportunity for diagnosis. By understanding the burden and implications of pneumothoraces in DCLDs, clinicians can facilitate early diagnosis and appropriate management of the underlying disorders.

Tuberculous Otitis with Proteus mirabilis Co-Infection: An Unsuspected Presentation Encountered in Clinical Practice.

PubMed

Rajesh Gandham, Nageswari; Sardar, Moumita; Jadhav, Savita Vivek; Vyawahare, Chanda; Misra, Rabindranath

2014-05-01

Tuberculosis, a contagious bacterial disease which is caused by Mycobacterium tuberculosis, primarily involves the lungs.Though Pulmonary tuberculosis (PTB) is the commonest clinical presentation, there is a need for alertness towards uncommon presentations which involve other organs. Tuberculous otitis media (TOM) is one such rare presentation seen in paediatric practice. It is characterized by painless otorrhoea which fails to respond to the routine antibacterial treatment. TOM usually occurs secondary to PTB. Here is a case of tuberculous otitis media with Proteus mirabilis co-infection, with no evidence of PTB. In the sample of ear discharge obtained from the patient, acid fast bacilli were demonstrated on direct microscopy after Ziehl-Neelsen staining. Culture done on Lowenstein-Jensen medium demonstrated slow-growing Mycobacterium. Bacteriological culture and identification helped in isolating Proteus mirabilis. PCR, followed by Line- Probe Assay for early identification and susceptibility testing to primary drugs, was done. Further, patient tested negative for the Mantoux test. Patient was enrolled in National Tuberculosis programme- RNTCP. This case emphasizes on one of the less common presentations of a common disease. A high clinical suspicion and laboratory confirmation are required for appropriate patient management.

Tuberculous Otitis with Proteus mirabilis Co-Infection: An Unsuspected Presentation Encountered in Clinical Practice

PubMed Central

Sardar, Moumita; Jadhav, Savita Vivek; Vyawahare, Chanda; Misra, Rabindranath

2014-01-01

Tuberculosis, a contagious bacterial disease which is caused by Mycobacterium tuberculosis, primarily involves the lungs.Though Pulmonary tuberculosis (PTB) is the commonest clinical presentation, there is a need for alertness towards uncommon presentations which involve other organs. Tuberculous otitis media (TOM) is one such rare presentation seen in paediatric practice. It is characterized by painless otorrhoea which fails to respond to the routine antibacterial treatment. TOM usually occurs secondary to PTB. Here is a case of tuberculous otitis media with Proteus mirabilis co-infection, with no evidence of PTB. In the sample of ear discharge obtained from the patient, acid fast bacilli were demonstrated on direct microscopy after Ziehl-Neelsen staining. Culture done on Lowenstein-Jensen medium demonstrated slow-growing Mycobacterium. Bacteriological culture and identification helped in isolating Proteus mirabilis. PCR, followed by Line- Probe Assay for early identification and susceptibility testing to primary drugs, was done. Further, patient tested negative for the Mantoux test. Patient was enrolled in National Tuberculosis programme- RNTCP. This case emphasizes on one of the less common presentations of a common disease. A high clinical suspicion and laboratory confirmation are required for appropriate patient management. PMID:24995225

Waldenström Macroglobulinemia

PubMed Central

Ghobrial, Irene M.; Witzig, Thomas E.

2011-01-01

Opinion statement Waldenström macroglobulinemia (WM) is a low-grade lymphoproliferative disorder characterized by the presence of an immunoglobulin M monoclonal protein in the blood and monoclonal small lymphocytes and lymphoplasmacytoid cells in the marrow. The disease is uncommon and there is a lack of clear diagnostic criteria. WM is treatable but not curable and long-term survival is possible. Therefore, the treating physician needs to carefully balance the risks and benefits of treatment. Treatments are aimed at relieving symptoms resulting from marrow infiltration and the hyperviscosity syndrome. Therapies available for initiation of treatment include alkylating agents, purine nucleoside analogs, and rituximab. Chlorambucil has been the mainstay of treatment for many years and remains useful, especially in older patients. Rituximab has become an important new therapy for this disease because of its positive treatment responses, acceptable toxicity, and lack of therapy-associated myelosuppression and myelodysplasia. Currently, rituximab is being combined with chemotherapy. Other options of treatment include interferon and corticosteroids. Emerging therapies include stem cell transplantation (autologous and allogeneic) for younger patients. Currently, there are few comparative data on which to state an absolute opinion concerning the best available treatment for patients with WM. PMID:15115652

Stent Angioplasty of Closed Mesocaval Shunt in a Patient with Budd-Chiari Syndrome

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

Sancak, Tanzer; Karagulle, Ayse Tuba; Bilgic, Sadik

Budd-Chiari syndrome (BCS) is an uncommon disorder caused by hepatic venous outflow obstruction. It is characterized by ascites, hepatomegaly and abdominal pain. Percutaneous intervention shave recently been used for the treatment of BCS. We present a case of BCS with a closed mesocaval shunt which was reopened with a self-expandable metallic stent.

Characteristics of Patients With Sertoli and Leydig Cell Testis Neoplasms From a National Population-Based Registry.

PubMed

Osbun, Nathan; Winters, Brian; Holt, Sarah K; Schade, George R; Lin, Daniel W; Wright, Jonathan L

2017-04-01

Sertoli and Leydig cell tumors (SCT and LCT) are uncommon testis neoplasms. Data regarding patient demographics and outcomes are limited to small series. We further characterized these tumors using a large cancer database. The Surveillance, Epidemiology, and End Results (SEER) database was queried from 2004 to 2012. International Classification of Diseases for Oncology (ICD-O) codes identified SCT and LCT. Common germ cell tumors (GCT) provided a reference group. Age, race, histology, tumor size, stage, and cancer-specific mortality (CSM) were compared. Thirty-one men had SCT, 76 had LCT, and 17,998 had GCTs. Median follow-up for SCT, LCT, and GCTs was 46, 38, and 50 months, respectively. Median ages for SCT and LCT were 39 and 47, respectively, which was older than those with GCT (34 years; P < .001). African American race was more common in SCT (23%) and LCT (24%) patients compared to GCT (3%, P < .001). LCT most commonly presented with stage I disease (98.5%), while patients with SCT presented at higher stages (35% with stage II/III). CSM was highest in patients with SCT (32% vs. 2% LCT and 7% GCT, P < .001). Median survival of those with CSM was similar between SCT, LCT, and GCTs (15, 12, and 14 months, respectively). Compared to GCT, SCT and LCT present at older ages and are more common in African Americans. Metastasic disease at presentation and CSM rates are higher in SCT compared to LCT and GCT, suggesting a clinically relevant distinction between these histologies. Better characterization of these rare neoplasms will continue to inform patient counseling and management. Copyright © 2016 Elsevier Inc. All rights reserved.

Thyroid scintigraphy findings in 2096 cats with hyperthyroidism.

PubMed

Peterson, Mark E; Broome, Michael R

2015-01-01

Thyroid scintigraphy is currently the reference standard for diagnosing and staging cats with hyperthyroidism, but few studies describing the scintigraphic characteristics in a large number of cats have been reported. The objective of this study was to better characterize thyroid scintigraphy findings by evaluating 2096 consecutive cats with hyperthyroidism that were referred over a 3.5-year period. Of these cats, 2068 (98.7%) had a high thyroid-to-salivary ratio (>1.5), whereas 2014 (96.1%) were found to have a high thyroid-to-background ratio (>6.1). When the patterns of the cats' thyroid disease were recorded, 665 (31.7%) had unilateral disease, 1060 (50.6%) had bilateral-asymmetric disease (two thyroid lobes unequal in size), 257 (12.3%) had bilateral-symmetric disease (both lobes similar in size), and 81 (3.9%) had multifocal disease (≥3 areas of increased radionuclide uptake). The number of areas of (99m) TcO(-) 4 uptake in the 2096 cats ranged from 1 to 6 (median, 2), located in the cervical area in 2057 (98.1%), thoracic inlet in 282 (13.5%), and in the thoracic cavity in 115 (5.5%). Ectopic thyroid tissue (e.g. lingual or mediastinal) was diagnosed in 81 (3.9%) cats, whereas thyroid carcinoma was suspected in 35 (1.7%) of the cats. The results of this study support conclusions that most hyperthyroid cats have unilateral or bilateral thyroid nodules, but that multifocal disease will develop in a few cats that have ectopic thyroid disease or thyroid carcinoma. Both ectopic thyroid disease and thyroid carcinoma are relatively uncommon in hyperthyroid cats, with a respective prevalence of ∼4% and ∼2% in this study. © 2014 American College of Veterinary Radiology.

Interaction of Adverse Disease Related Pathways in Hypertrophic Cardiomyopathy.

PubMed

Rowin, Ethan J; Maron, Martin S; Chan, Raymond H; Hausvater, Anais; Wang, Wendy; Rastegar, Hassan; Maron, Barry J

2017-12-15

Hypertrophic cardiomyopathy (HC) has been characterized as a generally progressive genetic heart disease, creating an ominous perspective for patients and managing cardiologists. We explored the HC disease burden and interaction of adverse clinical pathways to clarify patient expectations over long time periods in the contemporary therapeutic era. We studied 1,000 consecutive HC patients (52 ± 17 years) at Tufts Medical Center, followed 9.3 ± 8 years from diagnosis, employing a novel disease pathway model: 46% experienced a benign course free of adverse pathways, but 42% of patients progressed along 1 major pathway, most commonly refractory heart failure to New York Heart Association class III or IV requiring surgical myectomy (or alcohol ablation) or heart transplant; repetitive or permanent atrial fibrillation; and least commonly arrhythmic sudden death events. Eleven percent experienced 2 of these therapeutic end points at different times in their clinical course, most frequently the combination of advanced heart failure and atrial fibrillation, whereas only 1% incurred all 3 pathways. Freedom of progression from 1 to 2 disease pathways, or from 2 to 3 was 80% and 93% at 5 years, respectively. Annual HC-related mortality did not differ according to the number of pathways: 1 (0.8%), 2 (0.8%), or 3 (2.4%) (p = 0.56), and 93% of patients were in New York Heart Association classes I or II at follow-up. In conclusion, it is uncommon for HC patients to experience multiple adverse (but treatable) disease pathways, underscoring the principle that HC is not a uniformly progressive disease. These observations provide a measure of clarity and/or reassurance to patients regarding the true long-term disease burden of HC. Copyright © 2017 Elsevier Inc. All rights reserved.

[Tuberculous abscess of the thoracic wall secondary to nodular tuberculosis: Atypical presentation in an older adult].

PubMed

Cajuste-Sequeira, Fritz; Bueno-Wong, Juan Luis; Rosas-Carrasco, Óscar; González-Vergara, Carolina; Bieletto-Trejo, Olivia

2017-01-01

Tuberculosis (tb) of the chest wall is uncommon and it represents less than 5% of all cases of musculoskeletal tb and only 1-2% of tb. We present the case of an elderly woman with tb of the chest wall secondary to a nodal tb with an unusual presentation. The diagnosis of this entity is difficult because the disease often mimics other diseases such as pyogenic abscess, chest wall.

Bacteraemia and breast abscess: unusual extra-intestinal manifestations of Clostridium difficile infection.

PubMed

Durojaiye, Oyewole; Gaur, Soma; Alsaffar, Layth

2011-03-01

Extra-intestinal manifestations of Clostridium difficile infection are uncommon. Most cases are associated with gastrointestinal disease and often occur as a mixed infection with other gut flora. We report a case of breast abscess following monomicrobial C. difficile bacteraemia in a female with background chronic hepatitis C infection and alcoholic liver disease. No evidence of colitis was found. Our case shows that C. difficile is indeed capable of spreading from the gastrointestinal tract.

Mesalamine-induced myopericarditis - A case report.

PubMed

Bernardo, Sónia; Fernandes, Samuel Raimundo; Araújo-Correia, Luís

2016-11-01

Myopericarditis has occasionally been reported as a side effect of mesalamine in patients with inflammatory bowel disease. We present a 20-year-old woman with ulcerative colitis admitted with chest pain. After thorough investigation she was diagnosed with myopericarditis potentially related to mesalamine. There was complete clinical and laboratorial recovery following drug withdrawal. Although uncommon, the possibility of myopericarditis should be considered in patients with inflammatory bowel disease presenting with cardiac complaints. Early recognition can avoid potential life-threatening complications.

Uncommon presentations of tinea versicolor

PubMed Central

Varada, Sowmya; Dabade, Tushar; Loo, Daniel S.

2014-01-01

Tinea versicolor (TV) is a common cutaneous fungal infection characterized by superficial scaling and a mild disturbance of skin pigmentation. It typically affects the chest, upper back, and shoulders. However, involvement of more unusual regions of the body such as the face and scalp, arms and legs, intertriginous sites, genitalia, areolae, and palms and soles has been reported. This report details two such cases observed at our institution: a 32-year-old woman with involvement of the popliteal fossa and a 16-year-old boy with involvement of the groin. The clinician must be aware of these variations in location and perform the appropriate diagnostic workup when lesions have the characteristic morphology of TV despite an unusual location. The etiology, pathophysiology, and epidemiology of TV are reviewed and current literature describing other instances of TV in uncommon locations is discussed. PMID:25126470

Cavernous hemangioma--uncommon presentation in zygomatic bone.

PubMed

Dhupar, Vikas; Yadav, Sunil; Dhupar, Anita; Akkara, Francis

2012-03-01

Hemangiomas are benign vascular neoplasms characterized by an abnormal proliferation of blood vessels. They may occur in any vascularized tissue including skin, subcutaneous tissue, muscle, and bone. Intraosseous hemangiomas are uncommon, constituting less than 1% of all osseous tumors. The most frequent sites are the calvaria and the vertebral column. Involvement of the facial bones is rare and occurs most commonly in the maxilla, mandible, and nasal bones. In literature, only 20 cases of zygomatic involvement have been reported. We report a case of an intraosseous hemangioma of the zygoma with the history and physical findings of slowly growing, bony, hard tumor causing facial and ocular deformity. The typical clinicopathologic and radiologic findings helped to set up the correct diagnosis. Early recognition and excision are recommended to preserve facial contour. Operative blood loss is minimal, and there is no need for preoperative angiography.

Riga-Fede disease in the upper jaw in an infant.

PubMed

Çavuş, Şule; Özmen, Bilal

2017-09-01

Riga-Fede disease is a benign and uncommon mucosal disorder. This illness is an ulceration of the oral mucosa and arises from repetitive traumatic injuries. The disease is usually caused by the sharp edges of new erupted teeth. The aim of the present case report is to present Riga-Fede disease and its treatment. We reported a 11-month-old healthy female infant diagnosed as Riga-Fede disease based on clinical features. After the conservative treatment that focused on eliminating the source of trauma, total healing was observed. Riga-Fede disease is rare. This illness can be confused with malignancies. Therefore, the diagnosis and treatment of this disease are very important for physicians and patients. © 2017 Wiley Periodicals, Inc.

Nosocomial endocarditis caused by Corynebacterium amycolatum and other nondiphtheriae corynebacteria.

PubMed

Knox, Karen L; Holmes, Alison H

2002-01-01

The nondiphtheriae corynebacteria are uncommon but increasingly recognized as agents of endocarditis in patients with underlying structural heart disease or prosthetic-valves. We describe three cases of nosocomial endocarditis caused by nondiphtheriae corynebacteria, including the first reported case of Corynebacterium amycolatum, endocarditis. These all occurred in association with indwelling intravascular devices.

Meningoencephalitis due to Gemella haemolysans.

PubMed

Galen, Benjamin T; Banach, David B; Gitman, Melissa R; Trow, Terence K

2014-01-01

Gemella haemolysans is an uncommon but described cause of invasive disease in humans. We report a case of meningitis due to G. haemolysans that did not grow in cerebrospinal fluid culture, demonstrating a potential role for direct 16S rRNA gene PCR and sequencing in culture-negative cerebrospinal fluid when bacterial meningitis is suspected.

Dementia in Urban Black Outpatients: Initial Experience at the Emory Satellite Clinics.

ERIC Educational Resources Information Center

Auchus, Alexander P.

1997-01-01

Describes the demographic features and clinical diagnoses in a sample of 58 demented urban black outpatients. Results indicate that probable Alzheimer's disease was the most common cause of dementia whereas probable vascular dementia was uncommon. A multiple etiology dementia was identified in more than one-third of the patients. (RJM)

Xanthogranulomatous pyelonephritis in children.

PubMed

Mydlo, J; Reda, E; Gill, B; Kogan, S; Levitt, S

1987-11-01

We report on a child with xanthogranulomatous pyelonephritis--an uncommon entity in children. A review of the literature revealed that in only 18 per cent was the diagnosis made correctly preoperatively. In children the disease is of a focal nature rather than a diffuse one, suggesting that possibly radical surgery would be less necessary for adequate treatment.

Bacterial reproductive pathogens of cats and dogs.

PubMed

Graham, Elizabeth M; Taylor, David J

2012-05-01

With the notable exception of Brucella canis, exogenous bacterial pathogens are uncommon causes of reproductive disease in cats and dogs. Most bacterial reproductive infections are endogenous, and predisposing factors for infection are important. This article reviews the etiology, pathogenesis, clinical presentation, diagnosis, treatment, and public health significance of bacterial reproductive pathogens in cats and dogs.

Seroepidemiological Study of Toxoplasmosis in Intellectual Disability Children in Rehabilitation Centers of Northern Iran

ERIC Educational Resources Information Center

Sharif, M.; Ziaei, H.; Daryani, A.; Ajami, A.

2007-01-01

Serological studies revealed that toxoplasmosis has world wide distribution. Although the infection by "Toxoplasma gondii" is widely prevalent in humans and animals, the disease is uncommon and most of the acquired infections are asymptomatic. The important aspect of this parasitic infection is the probable danger of congenital…

[Precise management of extraordinary agent wound by establishment of a multidisciplinary cooperation mechanism].

PubMed

Liu, Yi

2016-06-01

With the development of social economy, people's lifestyle has changed accompanied with the problem of population aging. The spectrum of disease also varied accordingly, thus led to complicated and varied wound aetiology, along with the formation of innumerably changed acute and chronic wounds. Therefore, it is hard to meet the requirement of multidisciplinary knowledge and technique in the diagnosis and treatment of some extraordinary agent wound with a single discipline. The extraordinary agent wound is caused by some uncommon or rare etiological factors, the specialty of which lays on the unique mechanism of wound formation, and a lot of disciplines were involved in the diagnosis and management of the wound. A unification of multiple disciplines is needed to integrate the relevant theory and technique to care the wound by giving consideration of the symptom and the aetiology. The primary diseases which induced the uncommon agent wound should be targeted and treated effectively; meanwhile, a comprehensive treatment combined with multiple new wound management techniques should be carried out to realize the objective of precise treatment.

Mandibular Actinomyces osteomyelitis complicating florid cemento-osseous dysplasia: case report

PubMed Central

2011-01-01

Background Apart from neoplastic processes, chronic disfiguring and destructive diseases of the mandible are uncommon. Case Presentation We report, perhaps for the first time, the simultaneous occurrence of two such conditions in one patient, in a case that emphasizes the importance of bone biopsy in establishing the correct diagnosis. Florid cemento-osseous dysplasia (FCOD) is a chronic, disfiguring condition of the maxillofacial region. This relatively benign disease is primarily observed in middle-aged women of African ancestry. Cervicofacial actinomycosis is an uncommon and progressive infection caused by bacilli of the Actinomyces genus that typically involves intraoral soft tissues but may also involve bone. The accurate diagnosis of actinomycosis is critical for successful treatment. A diagnosis of osteomyelitis caused by Actinomyces bacteria was diagnosed by bone biopsy in a 53 year-old African-American woman with a longstanding history of FCOD after she presented with a new draining ulcer overlying the mandible. Conclusions Clinicians should be aware of the possibility of actinomycosis arising in the setting of FCOD, and the importance of bone biopsy and cultures in arriving at a definitive and timely diagnosis. PMID:21777471

Mandibular Actinomyces osteomyelitis complicating florid cemento-osseous dysplasia: case report.

PubMed

Smith, Miller H; Harms, Paul W; Newton, Duane W; Lebar, Bill; Edwards, Sean P; Aronoff, David M

2011-07-21

Apart from neoplastic processes, chronic disfiguring and destructive diseases of the mandible are uncommon. We report, perhaps for the first time, the simultaneous occurrence of two such conditions in one patient, in a case that emphasizes the importance of bone biopsy in establishing the correct diagnosis. Florid cemento-osseous dysplasia (FCOD) is a chronic, disfiguring condition of the maxillofacial region. This relatively benign disease is primarily observed in middle-aged women of African ancestry. Cervicofacial actinomycosis is an uncommon and progressive infection caused by bacilli of the Actinomyces genus that typically involves intraoral soft tissues but may also involve bone. The accurate diagnosis of actinomycosis is critical for successful treatment. A diagnosis of osteomyelitis caused by Actinomyces bacteria was diagnosed by bone biopsy in a 53 year-old African-American woman with a longstanding history of FCOD after she presented with a new draining ulcer overlying the mandible. Clinicians should be aware of the possibility of actinomycosis arising in the setting of FCOD, and the importance of bone biopsy and cultures in arriving at a definitive and timely diagnosis.

Foamy Monocytes Are Enriched in cis-7-Hexadecenoic Fatty Acid (16:1n-9), a Possible Biomarker for Early Detection of Cardiovascular Disease.

PubMed

Guijas, Carlos; Meana, Clara; Astudillo, Alma M; Balboa, María A; Balsinde, Jesús

2016-06-23

Human monocytes respond to arachidonic acid, a secretory product of endothelial cells, by activating the de novo pathway of fatty acid biosynthesis, resulting in the acquisition of a foamy phenotype due to accumulation of cytoplasmic lipid droplets. Recruitment of foamy monocytes to endothelium is a key step in the formation of atherosclerotic plaques. Here we describe that lipid droplets of foamy monocytes are enriched in a rather uncommon fatty acid, cis-7-hexadecenoic acid (16:1n-9), a positional isomer of palmitoleic acid. 16:1n-9 was found to possess an anti-inflammatory activity both in vitro and in vivo that is comparable with that of omega-3 fatty acids and clearly distinguishable from the effects of palmitoleic acid. Selective accumulation in neutral lipids of phagocytic cells of an uncommon fatty acid reveals an early phenotypic change that may provide a biomarker of proatherogenicity, and a potential target for intervention in the early stages of cardiovascular disease. Copyright © 2016 Elsevier Ltd. All rights reserved.

Minimally symptomatic hypocalcaemia unmasking celiac disease.

PubMed

Lazaridis, A; Drosou, M E; Fontalis, A; Prousali, E; Hadwe, S E; Giouleme, O; Petidis, K

2016-11-01

Celiac disease is an autoimmune disease of the small intestine which occurs in genetically predisposed people of all ages. A large clinical spectrum of manifestations accompanies the onset of the disease with diarrhoea, flatulence and weight loss being the most common. However, findings like osteoporosis, iron deficiency, anaemia and hypocalcaemia could also insinuate the existence of the disease. We report the case of a 55-year-old man with numbness and tingling of the upper extremities due to hypocalcaemia that proved to be an uncommon case of celiac disease. A non-negligible number of adult patients with celiac disease can present with only minor and subclinical manifestations of the disease. As such, hypocalcaemia may be the sole manifestation of celiac disease. A high index of suspicion is needed for prompt diagnosis. © The Author(s) 2016.

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.

Destructive discovertebral degenerative disease of the lumbar spine.

PubMed

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

2012-09-01

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

The increasing hospital disease burden of haemochromatosis in England.

PubMed

Cowan, M L; Westlake, S; Thomson, S J; Rahman, T M; Majeed, A; Maxwell, J D; Kang, J-Y

2010-01-15

Hereditary haemochromatosis is a preventable cause of liver disease with an increasing disease burden. To investigate time trends for hospital admission ascribed to haemochromatosis in England during the period from 1989/1990 to 2002/2003 and mortality from 1979 to 2005. Hospital admission data, relating to both in-patients and day-cases, were obtained from the Hospital Episodes Statistics service. Mortality rates for England and Wales were provided by the Office for National Statistics. Haemochromatosis is an uncommon cause for hospital admission. Age-standardized in-patient admission rates increased over the study period by 269% in men and by 290% in women: (from 0.64 to 2.36 and from 0.21 to 0.81 per year per 100 000). The increase in age-standardized day-case admission rates was even higher (men: from 2.78 to 34.9 per year per 100 000, 1155%; women: from 0.58 to 11.67 per year per 100 000, 1924%). Haemochromatosis was recorded as an uncommon cause of death. Hospital in-patient and day case admissions for haemochromatosis increased markedly over the study period while mortality remained low. Both admission rates and mortality were higher in men than in women. The increase in admission rate may reflect improved recognition and diagnosis of iron overload disorders following identification of the HFE gene.

Deep brain stimulation for the treatment of uncommon tremor syndromes.

PubMed

Ramirez-Zamora, Adolfo; Okun, Michael S

2016-08-01

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. 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 commentary: 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.

The Evolution of Adolescence and the Adolescence of Evolution: The Coming of Age of Humans and the Theory about the Forces that Made Them

ERIC Educational Resources Information Center

Hawley, Patricia H.

2011-01-01

Adolescence is a period characterized by well-documented growth and change, including reproductive, social, and cognitive development. Though not unheard of, modern evolutionary approaches to adolescence are still relatively uncommon. Recent treatises in developmental biology, however, have yielded new tools through which to explore human…

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

PubMed Central

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

2015-01-01

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

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

PubMed

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

2016-01-01

An outbreak of type emm59 invasive group A Streptococcus (iGAS) disease was declared in 2008 in Thunder Bay District, Northwestern Ontario, 2 years after a countrywide emm59 epidemic was recognized in Canada. Despite a declining number of emm59 infections since 2010, numerous cases of iGAS disease continue to be reported in the area. We collected clinical information on all iGAS cases recorded in Thunder Bay District from 2008 to 2013. We also emm typed and sequenced the genomes of all available strains isolated from 2011 to 2013 from iGAS infections and from severe cases of soft tissue infections. We used whole-genome sequencing data to investigate the population structure of GAS strains of the most frequently isolated emm types. We report an increased incidence of iGAS in Thunder Bay compared to the metropolitan area of Toronto/Peel and the province of Ontario. Illicit drug use, alcohol abuse, homelessness, and hepatitis C infection were underlying diseases or conditions that might have predisposed patients to iGAS disease. Most cases were caused by clonal strains of skin or generalist emm types (i.e., emm82, emm87, emm101, emm4, emm83, and emm114) uncommonly seen in other areas of the province. We observed rapid waxing and waning of emm types causing disease and their replacement by other emm types associated with the same tissue tropisms. Thus, iGAS disease in Thunder Bay District predominantly affects a select population of disadvantaged persons and is caused by clonally related strains of a few skin and generalist emm types less commonly associated with iGAS in other areas of Ontario. Copyright © 2015, American Society for Microbiology. All Rights Reserved.

Isolated (localized) idiopathic granulomatous (giant cell) vasculitis in an intramuscular lipoma.

PubMed

Fernando Val-Bernal, J; Val, Daniel; Calvo, Ignacio; Francisca Garijo, M

2006-01-01

Isolated (localized) idiopathic granulomatous vasculitis (IGV) is an uncommon, heterogeneous, and poorly defined group of disorders characterized by infiltration of the arterial wall caused by compactly grouped mononuclear phagocytes, with or without giant cells, in segmental distribution. We report on a 55-year-old woman with IGV limited to an intramuscular lipoma of the left thigh. The vasculitis was identified incidentally upon microscopic examination of the removed tumor. The IGV was centered on two medium-sized arteries, accompanied by narrowing of the lumens, and not associated with secondary changes such as infart or postinfart fibrosis. The inflammatory infiltrate was rich in T-lymphocytes and macrophages, with the presence of giant cells. The patient was asymptomatic and well in a follow-up period of 2 months, during which she was not treated. To our knowledge, this is the first report of lipoma involvement in localized IGV. It is important to distinguish cases of isolated intratumorous IGV from systemic disease, because the latter implies a poor prognosis and requires an aggressive treatment.

Aspergillus fumigatus and Aspergillosis

PubMed Central

Latgé, Jean-Paul

1999-01-01

Aspergillus fumigatus is one of the most ubiquitous of the airborne saprophytic fungi. Humans and animals constantly inhale numerous conidia of this fungus. The conidia are normally eliminated in the immunocompetent host by innate immune mechanisms, and aspergilloma and allergic bronchopulmonary aspergillosis, uncommon clinical syndromes, are the only infections observed in such hosts. Thus, A. fumigatus was considered for years to be a weak pathogen. With increases in the number of immunosuppressed patients, however, there has been a dramatic increase in severe and usually fatal invasive aspergillosis, now the most common mold infection worldwide. In this review, the focus is on the biology of A. fumigatus and the diseases it causes. Included are discussions of (i) genomic and molecular characterization of the organism, (ii) clinical and laboratory methods available for the diagnosis of aspergillosis in immunocompetent and immunocompromised hosts, (iii) identification of host and fungal factors that play a role in the establishment of the fungus in vivo, and (iv) problems associated with antifungal therapy. PMID:10194462

Dyspnea in a nonagenarian: The usual suspects, an unexpected culprit.

PubMed

Madeira, Sérgio; Raposo, Luís; David, Raquel; Marques, Alexandre; Andrade Gomes, José; Cardim, Nuno; Anjos, Rui

2015-09-01

Platypnea-orthodeoxia syndrome (POS) is an uncommon syndrome characterized by dyspnea and hypoxemia triggered by orthostatism and relieved by recumbency. It is often associated with an interatrial shunt through a patent foramen ovale (PFO). We report the case of a 92-year-old woman initially admitted in the setting of a traumatic femoral neck fracture (successfully treated with hip replacement surgery) in whom a reversible decline in transcutaneous oxygen saturation from 98% (in the supine position) to 84% (in the upright position) was noted early post-operatively. Thoracic multislice computed tomography excluded pulmonary embolism and severe parenchymal lung disease. The diagnosis of POS was confirmed by tilt-table contrast transesophageal echocardiography, which demonstrated a dynamic and position-dependent right-to-left shunt (torrential when semi-upright and minimal in the supine position) through a PFO. The patient underwent percutaneous closure of the PFO with an Amplatzer device, which led to prompt symptom relief and full functional recovery. Copyright © 2014 Sociedade Portuguesa de Cardiologia. Published by Elsevier España. All rights reserved.

An update on classification, genetics, and clinical approach to mixed phenotype acute leukemia (MPAL).

PubMed

Khan, Maliha; Siddiqi, Rabbia; Naqvi, Kiran

2018-06-01

Mixed phenotype acute leukemia (MPAL) is an uncommon diagnosis, representing only about 2-5% of acute leukemia cases. The blast cells of MPAL express multilineage immunophenotypic markers and may have a shared B/T/myeloid phenotype. Due to historical ambiguity in the diagnosis of MPAL, the genetics and clinical features of this disease remain poorly characterized. Based on the 2008 and 2016 World Health Organization classifications, myeloid lineage is best determined by presence of myeloperoxidase, while B and T lymphoid lineages are demonstrated by CD19 and cytoplasmic CD3 expression. MPAL typically carries a worse prognosis than either acute myeloid leukemia (AML) or acute lymphoid leukemia (ALL). Given the rarity of MPAL, there is a lack of prospective trial data to guide therapy; treatment generally relies on ALL-like regimens followed by consolidation chemotherapy or hematopoietic stem cell transplant (HSCT). Here, we review the updated classification, biology, clinical features, and treatment approach to MPAL.

Fever, jaundice and acute renal failure.

PubMed

O'Toole, Sam M; Pathak, Neha; Toms, Graham C; Gelding, Susan V; Sivaprakasam, Venkat

2015-02-01

Leptospirosis is an uncommon infectious disease that has protean clinical manifestations ranging from an innocuous 'flu-like' illness to potentially life-threatening multi-organ failure. Here we describe a case of Weil's disease that presented on the acute medical take with fever, jaundice and acute renal failure. We highlight the importance of careful history taking at the time of admission and how understanding the epidemiology and pathophysiology of leptospirosis enables a definitive diagnosis to be reached. © 2015 Royal College of Physicians.

Threatening auditory hallucinations and Cotard syndrome in Parkinson disease.

PubMed

Factor, Stewart A; Molho, Eric S

2004-01-01

Psychotic symptoms are commonly reported in patients with Parkinson disease (PD). In particular, patients experience nonthreatening visual hallucinations that can occur with insight (so called hallucinosis) or without. Auditory hallucinations are uncommon, and schizophrenialike symptoms such as pejorative and threatening auditory hallucinations and delusions that are persecutory, referential, somatic, religious, or grandiose have rarely been reported. The authors present 2 PD patients who experienced threatening auditory hallucinations, without visual hallucinations, and schizophrenialike delusions with detailed description of the clinical phenomenology including 1 patient with Cotard syndrome.

A messenger at the door: cytomegalovirus retinitis in myeloma patients with progressive disease.

PubMed

Teh, B W; Khot, A S; Harrison, S J; Prince, H M; Slavin, M A

2013-08-01

Cytomegalovirus (CMV) retinitis is an uncommon manifestation of CMV disease and is a marker of severe and profound immunosuppression in human immunodeficiency virus-positive patients. Here, we describe 2 cases of CMV retinitis in myeloma patients with progressive disease, following autologous stem cell transplantation and immunomodulatory therapy for myeloma. To our knowledge, this is the first report of CMV retinitis in this patient population. This report illustrates the need for close monitoring of relapsed and refractory myeloma patients for new presentations of opportunistic infections secondary to severe immunosuppression. © 2013 John Wiley & Sons A/S.

Dupuytren in a Child: Rare Presentation of a Rare Clinical Entity.

PubMed

Spyropoulou, Georgia-Alexandra; Pavlidis, Leonidas; Milothridis, Panagiotis; Zaraboukas, Thomas; Demiri, Efterpi

2016-12-01

Dupuytren disease in children younger than 10 years is rare and only 8 histologically proven cases have been reported. A histologically proven Dupuytren disease in a 10-year-old with an uncommon clinical presentation as a nodule on the radial side of the middle phalanx of the little finger is documented. Dupuytren's disease should be in the differential diagnosis in cases of nodules and contractures in the palm and fingers of children. Copyright © 2016 American Society for Surgery of the Hand. Published by Elsevier Inc. All rights reserved.

Mammary and extramammary Paget's disease

PubMed Central

Lloyd, J; Flanagan, A

2000-01-01

Mammary and extramammary Paget's disease are uncommon intraepithelial adenocarcinomas. Both conditions have similar clinical features, which mimic inflammatory and infective diseases. Histological diagnostic confusion can arise between Paget's disease and other neoplastic conditions affecting the skin, with the most common differential diagnoses being malignant melanoma and atypical squamous disease. The glandular differentiation of both mammary Paget's disease and extramammary Paget's disease is indicated by morphological appearances, the presence of intracellular mucin in many cases, and positive immunohistochemical staining for glandular cytokeratins, epithelial membrane antigen, and carcinoembryonic antigen. This article provides an overview of mammary and extramammary Paget's disease and discusses recent evidence regarding the cell of origin. The concepts of primary and secondary Paget's disease are presented and the differential diagnosis is discussed with reference to immunohistochemical markers that might be of diagnostic value. Key Words: mammary Paget's disease • extramammary Paget's disease PMID:11064666

Autism in the Son of a Woman with Mitochondrial Myopathy and Dysautonomia: A Case Report.

PubMed

Brown, Bradley D; Rais, Theodore

2015-01-01

The relationship between autism spectrum disorders and mitochondrial dysfunction, including mitochondrial myopathies and other mitochondrial diseases, is an area of ongoing research. All autism spectrum disorders are known to be heritable, via genetic and/or epigenetic mechanisms, but specific modes of inheritance are not well characterized. Nevertheless, autism spectrum disorders have been linked to many specific genes associated with mitochondrial function, especially to genes involved in mitochondrial tRNA and the electron transport chain, both particularly vulnerable to point mutations, and clinical research also supports a relationship between the two pathologies. Although only a small minority of patients with autism have a mitochondrial disease, many patients with mitochondrial myopathies have autism spectrum disorder symptoms, and these symptoms may be the presenting symptoms, which presents a diagnostic challenge for clinicians. The authors report the case of a 15-year-old boy with a history of autism spectrum disorder and neurocardiogenic syncope, admitted to the inpatient unit for self-injury, whose young mother, age 35, was discovered to suffer from mitochondrial myopathy, dysautonomia, neurocardiogenic syncope, Ehler-Danlos syndrome, and other uncommon multisystem pathologies likely related to mitochondrial dysfunction. This case illustrates the need for a high index of suspicion for mitochondrial disease in patients with autism, as they have two orders of magnitude greater risk for such diseases than the general population. The literature shows that mitochondrial disease is underdiagnosed in autism spectrum disorder patients and should not be viewed as a "zebra" (i.e., an obscure diagnosis that is made when a more common explanation is more likely).

Autism in the Son of a Woman with Mitochondrial Myopathy and Dysautonomia: A Case Report

PubMed Central

Rais, Theodore

2015-01-01

The relationship between autism spectrum disorders and mitochondrial dysfunction, including mitochondrial myopathies and other mitochondrial diseases, is an area of ongoing research. All autism spectrum disorders are known to be heritable, via genetic and/or epigenetic mechanisms, but specific modes of inheritance are not well characterized. Nevertheless, autism spectrum disorders have been linked to many specific genes associated with mitochondrial function, especially to genes involved in mitochondrial tRNA and the electron transport chain, both particularly vulnerable to point mutations, and clinical research also supports a relationship between the two pathologies. Although only a small minority of patients with autism have a mitochondrial disease, many patients with mitochondrial myopathies have autism spectrum disorder symptoms, and these symptoms may be the presenting symptoms, which presents a diagnostic challenge for clinicians. The authors report the case of a 15-year-old boy with a history of autism spectrum disorder and neurocardiogenic syncope, admitted to the inpatient unit for self-injury, whose young mother, age 35, was discovered to suffer from mitochondrial myopathy, dysautonomia, neurocardiogenic syncope, Ehler-Danlos syndrome, and other uncommon multisystem pathologies likely related to mitochondrial dysfunction. This case illustrates the need for a high index of suspicion for mitochondrial disease in patients with autism, as they have two orders of magnitude greater risk for such diseases than the general population. The literature shows that mitochondrial disease is underdiagnosed in autism spectrum disorder patients and should not be viewed as a “zebra” (i.e., an obscure diagnosis that is made when a more common explanation is more likely). PMID:26634179

Severe Toxoplasma gondii I/III Recombinant-Genotype Encephalitis in a Human Immunodeficiency Virus Patient▿

PubMed Central

Genot, Séverine; Franck, Jacqueline; Forel, Jean-Marie; Rebaudet, Stanislas; Ajzenberg, Daniel; de Paula, Andre Maues; Dardé, Marie-Laure; Stein, Andreas; Ranque, Stéphane

2007-01-01

The reactivation of an uncommon type I/III recombinant-genotype Toxoplasma gondii strain resulted in unusually severe encephalitis and chorioretinitis associated with a cerebral salt wasting syndrome in an African human immunodeficiency virus patient. This observation suggests an influence of the parasite genotype on disease expression in immunocompromised patients. PMID:17634310

Streptococcus suis meningitis can require a prolonged treatment course.

PubMed

Dejace, Jean; Bagley, Patrick; Wood, Emily

2017-12-01

We report a case of recrudescent Streptococcus suis meningitis requiring a prolonged treatment course. A few similar cases can be found in the burgeoning literature on what remains a relatively uncommon disease in humans, and these patients should be monitored carefully upon completion of therapy. Copyright © 2017 The Author(s). Published by Elsevier Ltd.. All rights reserved.

Anaesthesia for Caesarean section in a patient with diastrophic dwarfism.

PubMed

Porter, M; Mendonca, C

2007-04-01

Diastrophic dwarfism is a rare disease in which pregnancy is uncommon. In this report we present a woman with diastrophic dwarfism who underwent caesarean section under epidural anaesthesia. Her care was successfully managed with multidisciplinary team planning. The total dose of local anaesthetic needed for epidural block was greater than the doses reported for achondroplastic dwarfism.

Short report

PubMed Central

Quinn, P. T.; Andrews, Gavin

1977-01-01

Stuttering associated with neurological pathology in normal adult speakers is uncommon, has no consistent clinicopathological picture, and its significance is too easily dismissed. A case is reported showing that stuttering may be a presenting symptom of progressive neurological disease, and another case demonstrates that a speech disorder which is indistinguishable from common stuttering may follow cerebral follow injury in adulthood. PMID:915515

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.

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.

[Strychnine poisoning: uncommon, but does still happen].

PubMed

van Berlo-van de Laar, Inge R F; Arbouw, Maurits E L; Bles, Carmen M A

2015-01-01

Acute strychnine poisoning is an uncommon form of intoxication, characterized by severe tonic clonic seizures and tetanus-like contractions while the patient is fully conscious. It can result in respiratory failure, leading to death. A 47-year-old man was admitted to the casualty department 2 hours after self-poisoning with strychnine. The clinical picture consisted of persistent seizures, which were treated with midazolam and propofol. The patient went into respiratory failure and asystole, so intubation and cardiac massage were initiated. Other complications were severe metabolic acidosis, hyperthermia and rhabdomyolysis with renal failure. The treatment consisted of cooling, hyperhydration and intravenous administration of sodium bicarbonate. He was discharged to a mental care institution with no persistent symptoms 11 days later. Early aggressive treatment of a strychnine intoxication can be life-saving. Knowledge of the clinical picture and the right treatment is important. Treatment is primarily focussed on stopping the convulsions and securing the airway.

Globicatella sanguinis Osteomyelitis and Bacteremia: Review of an Emerging Human Pathogen with an Expanding Spectrum of Disease

PubMed Central

Buckwalter, Seanne P.; Henry, Michael W.; Wu, Fann; Maloney, Katherine F.; Abraham, Bisrat K.; Hartman, Barry J.; Brause, Barry D.; Whittier, Susan; Walsh, Thomas J.; Schuetz, Audrey N.

2017-01-01

Abstract Background. Globicatella sanguinis is an uncommon pathogen that may be misdiagnosed as viridans group streptococci. We review the literature of Globicatella and report 2 clinical cases in which catalase-negative Gram-positive cocci resembling viridans group streptococci with elevated minimum inhibitory concentrations (MICs) to ceftriaxone were inconsistently identified phenotypically, with further molecular characterization and ultimate identification of G sanguinis. Methods. Two clinical strains (from 2 obese women; 1 with a prosthetic hip infection and the other with bacteremia) were analyzed with standard identification methods, followed by matrix-assisted laser desorption ionization time-of-flight mass spectrometry, 16S recombinant ribonucleic acid (rRNA), and sodA polymerase chain reaction (PCR). The existing medical literature on Globicatella also was reviewed. Results. Standard phenotypic methods failed to consistently identify the isolates. 16S PCR yielded sequences that confirmed Globicatella species. sodA sequencing provided species-level identification of G sanguinis. The review of literature reveals G sanguinis as an increasingly reported cause of infections of the urine, meninges, and blood. To our knowledge, this is the first reported case of an orthopedic infection caused by Globicatella sanguinis. A review of the 37 known cases of G sanguinis infection revealed that 83% of patients are female, and 89% are at the extremes of age (<5 or >65 years). Conclusions. Globicatella sanguinis, an uncommon pathogen with elevated minimum inhibitory concentrations to third-generation cephalosporins, is difficult to identify by phenotypic methods and typically causes infections in females at the extremes of age. It may colonize skin or mucosal surfaces. Advanced molecular techniques utilizing 16S rRNA with sodA PCR accurately identify G sanguinis. PMID:28480269

Afatinib for an EGFR exon 20 insertion mutation: A case report of progressive stage IV metastatic lung adenocarcinoma with 54 months' survival.

PubMed

Chan, Raymond Tsz-Tong

2018-03-01

Non-small cell lung cancers (NSCLC) harboring the uncommon epidermal growth factor receptor (EGFR) exon 20 insertion mutations are generally thought to be unresponsive to EGFR-tyrosine kinase inhibitor (TKI) therapy. Presented here is a case of stage IV NSCLC harboring an uncommon EGFR exon 20 insertion mutation that was maintained at minimal progressive disease for 54 months, with 36 months on the second-generation TKI afatinib. Contrary to the existing literature, the patient in this case demonstrated a long, durable response to the EGFR-TKI, which was exhibited by a long survival endpoint. This suggests that stability in clinical symptoms might be sufficient to warrant continuation of therapy. © 2018 The Authors. Asia-Pacific Journal of Clinical Oncology Published by John Wiley & Sons Australia, Ltd.

Frontal fibrosing alopecia in a postmenopausal woman.

PubMed

Lee, W S; Hwang, S M; Ahn, S K

1997-12-01

A case is presented of a 52-year-old woman in whom clinical and histopathologic findings suggested cicatricial alopecia. Our patient had an uncommon, but distinctive, clinical presentation. It was characterized by bandlike frontal hair loss. This was recently described as patterned cicatricial alopecia, presented in a recent study as postmenopausal frontal hairline recession with scarring. Our patient's case should be differentiated from recognized forms of scarring alopecia.

Recognizing and preventing refeeding syndrome.

PubMed

Adkins, Susan M

2009-01-01

Refeeding syndrome is an uncommon but potentially fatal phenomenon that can occur in patients receiving parenteral, enteral, or oral feedings after a period of sustained malnutrition or starvation. This syndrome is characterized by hypophosphatemia, hypokalemia, and hypomagnesemia. The purpose of this article was to bring an acute awareness of refeeding syndrome to the critical care nurse. The recognition, pathogenesis, clinical manifestations, potential life threatening complications, and treatment are presented.

Pathogenesis of Influenza A/H5N1 virus infection in ferrets differs between intranasal and intratracheal routes of inoculation.

PubMed

Bodewes, Rogier; Kreijtz, Joost H C M; van Amerongen, Geert; Fouchier, Ron A M; Osterhaus, Albert D M E; Rimmelzwaan, Guus F; Kuiken, Thijs

2011-07-01

Most patients infected with highly pathogenic avian influenza A/H5N1 virus develop severe pneumonia resulting in acute respiratory distress syndrome, with extrarespiratory disease as an uncommon complication. Intranasal inoculation of ferrets with influenza A/H5N1 virus causes lesions in both the respiratory tract and extrarespiratory organs (primarily brain). However, the route of spread to extrarespiratory organs and the relative contribution of extrarespiratory disease to pathogenicity are largely unknown. In the present study, we characterized lesions in the respiratory tract and central nervous system (CNS) of ferrets (n = 8) inoculated intranasally with influenza virus A/Indonesia/5/2005 (H5N1). By 7 days after inoculation, only 3 of 8 ferrets had a mild or moderate bronchointerstitial pneumonia. In contrast, all 8 ferrets had moderate or severe CNS lesions, characterized by meningoencephalitis, choroiditis, and ependymitis, and centered on tissues adjoining the cerebrospinal fluid. These findings indicate that influenza A/H5N1 virus spread directly from nasal cavity to brain, and that CNS lesions contributed more than pulmonary lesions to the pathogenicity of influenza A/H5N1 virus infection in ferrets. In comparison, intratracheal inoculation of ferrets with the same virus reproducibly caused severe bronchointerstitial pneumonia. The method of virus inoculation requires careful consideration in the design of ferret experiments as a model for influenza A/H5N1 in humans. Copyright © 2011 American Society for Investigative Pathology. Published by Elsevier Inc. All rights reserved.

The transitional dynamics of caloric ecosystems: changes in the food supply around the world

PubMed Central

Basu, Sanjay

2018-01-01

Changes to the global food supply have been characterized by greater availability of edible oils, sweeteners, and meats—a profound “nutrition transition” associated with rising obesity, type 2 diabetes, and cardiovascular disease. Through an analysis of three longitudinal databases of food supply, sales and economics across the period 1961–2010, we observed that the change in global food supply has been characterized by a dramatic rise in pig meat consumption in China and poultry consumption in North America. These changes have not been experienced by all rapidly-developing countries, and are not well explained by changes in income. The changes in food supply include divergence among otherwise similar neighboring countries, suggesting that the changes in food supply are not an inevitable result of economic development. Furthermore, we observed that the nutrition transition does not merely involve an adoption of “Western” diets universally, but can also include an increase in the supply of edible oils that are uncommon in Western countries. Much of the increase in sales of sugar-sweetened beverages and packaged foods is attributable to a handful of multinational corporations, but typically from products distributed through domestic production systems rather than foreign importation. While North America and Latin America continued to have high sugar-sweetened beverage and packaged food sales in recent years, Eastern Europe and the Middle East have become emerging markets for these products. These findings suggest further study of natural experiments to identify which policies may mitigate nutritional risk factors for chronic disease in the context of economic development. PMID:29568162

Muscle imaging findings in GNE myopathy.

PubMed

Tasca, Giorgio; Ricci, Enzo; Monforte, Mauro; Laschena, Francesco; Ottaviani, Pierfrancesco; Rodolico, Carmelo; Barca, Emanuele; Silvestri, Gabriella; Iannaccone, Elisabetta; Mirabella, Massimiliano; Broccolini, Aldobrando

2012-07-01

GNE myopathy (MIM 600737) is an autosomal recessive muscle disease caused by mutations in the UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE) gene. Besides the typical phenotype, characterized by the initial involvement of the distal leg muscles that eventually spreads proximally with sparing of the quadriceps, uncommon presentations with a non-canonical clinical phenotype, unusual muscle biopsy findings or both are increasingly recognized. The aim of our study was to characterize the imaging pattern of pelvic and lower limb muscles in GNE myopathy, thus providing additional diagnostic clues useful in the identification of patients with atypical features. We retrospectively evaluated muscle MRI and CT scans of a cohort of 13 patients heterogeneous for GNE mutations and degree of clinical severity. We found that severe involvement of the biceps femoris short head and, to a lesser extent, of the gluteus minimus, tibialis anterior, extensor hallucis and digitorum longus, soleus and gastrocnemius medialis was consistently present even in patients with early or atypical disease. The vastus lateralis, not the entire quadriceps, was the only muscle spared in advanced stages, while the rectus femoris, vastus intermedius and medialis showed variable signs of fatty replacement. Younger patients showed hyperintensities on T2-weighted sequences in muscles with a normal or, more often, abnormal T1-weighted signal. Our results define a pattern of muscle involvement that appears peculiar to GNE myopathy. Although these findings need to be further validated in a larger cohort, we believe that the recognition of this pattern may be instrumental in the initial clinical assessment of patients with possible GNE myopathy.

Graft-versus-host disease after radiation therapy in patients who have undergone allogeneic stem cell transplantation: two case reports.

PubMed

Milgrom, Sarah A; Nieto, Yago; Pinnix, Chelsea C; Smith, Grace L; Wogan, Christine F; Rondon, Gabriela; Medeiros, L Jeffrey; Kebriaei, Partow; Dabaja, Bouthaina S

2016-07-28

Patients who undergo allogeneic stem cell transplantation and subsequent radiation therapy uncommonly develop graft-versus-host disease within the irradiated area. We quantified the incidence of this complication, which is a novel contribution to the field. From 2010 to 2014, 1849 patients underwent allogeneic stem cell transplantation, and 41 (2 %) received radiation therapy afterward. Of these, two patients (5 %) developed graft-versus-host disease within the irradiated tissues during or immediately after radiation therapy. The first patient is a 37-year-old white man who had Hodgkin lymphoma; he underwent allogeneic stem cell transplantation from a matched unrelated donor and received radiation therapy for an abdominal and pelvic nodal recurrence. After 28.8 Gy, he developed grade 4 gastrointestinal graft-versus-host disease, refractory to tacrolimus and steroids, but responsive to pentostatin and photopheresis. The other patient is a 24-year-old white man who had acute leukemia; he underwent allogeneic stem cell transplantation from a matched related donor and received craniospinal irradiation for a central nervous system relapse. After 24 cobalt Gy equivalent, he developed severe cutaneous graft-versus-host disease, sharply delineated within the radiation therapy field, which was responsive to tacrolimus and methylprednisolone. We conclude that graft-versus-host disease within irradiated tissues is an uncommon but potentially serious complication that may follow radiation therapy in patients who have undergone allogeneic stem cell transplantation. Clinicians must be aware of this complication and prepared with strategies to mitigate risk. Patients who have undergone allogeneic stem cell transplantation represent a unique population that may offer novel insight into the pathways involved in radiation-related inflammation.

Disseminated fungal infection in two species of captive sharks.

PubMed

Marancik, David P; Berliner, Aimee L; Cavin, Julie M; Clauss, Tonya M; Dove, Alistair D M; Sutton, Deanna A; Wickes, Brian L; Camus, Alvin C

2011-12-01

In this report, two cases of systemic mycosis in captive sharks are characterized. These cases were progressive and ultimately culminated in terminal disease. Paecilomyces lilacinus, an uncommon pathogen in human and veterinary medicine, was associated with areas of necrosis in the liver, heart, and gill in a great hammerhead shark (Sphyrna mokarran). Fungal growth was observed from samples of kidney, spleen, spinal fluid, and coelomic cavity swabs. Dual fungal infection by Exophiala pisciphila and Mucor circinelloides was diagnosed in a juvenile zebra shark (Stegostoma fasciatum). Both fungi were present in the liver, with more severe tissue destruction associated with E. pisciphila. E. pisciphila also produced significant necrosis in the spleen and gill, while M. circinelloides was associated with only minimal tissue changes in the heart. Fungal cultures from liver, kidney, and spleen were positive for both E. pisciphila and M. circinelloides. Identification of P. lilacinus and M. circinelloides was based on colonial and hyphal morphology. E. pisciphila was identified by sequence analysis of the 28S rRNA D1/D2 region and the internal transcribed spacer (ITS) region between the 18S and 28S rRNA subunit. These cases, and a lack of information in the literature, highlight the need for further research and diagnostic sampling to further characterize the host-pathogen interaction between elasmobranchs and fungi.

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

PubMed

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

2016-08-01

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

Real-Time Assessment of Wellness and Disease in Daily Life.

PubMed

Ausiello, Dennis; Lipnick, Scott

2015-09-01

The next frontier in medicine involves better quantifying human traits, known as "phenotypes." Biological markers have been directly associated with disease risks, but poor measurement of behaviors such as diet and exercise limits our understanding of preventive measures. By joining together an uncommonly wide range of disciplines and expertise, the Kavli HUMAN Project will advance measurement of behavioral phenotypes, as well as environmental factors that impact behavior. By following the same individuals over time, KHP will liberate new understanding of dynamic links between behavioral phenotypes, disease, and the broader environment. As KHP advances understanding of the bio-behavioral complex, it will seed new approaches to the diagnosis, prevention, and treatment of human disease.

A taxonomy for user-healthcare robot interaction.

PubMed

Bzura, Conrad; Im, Hosung; Liu, Tammy; Malehorn, Kevin; Padir, Taskin; Tulu, Bengisu

2012-01-01

This paper evaluates existing taxonomies aimed at characterizing the interaction between robots and their users and modifies them for health care applications. The modifications are based on existing robot technologies and user acceptance of robotics. Characterization of the user, or in this case the patient, is a primary focus of the paper, as they present a unique new role as robot users. While therapeutic and monitoring-related applications for robots are still relatively uncommon, we believe they will begin to grow and thus it is important that the spurring relationship between robot and patient is well understood.

Acute haematogenous community-acquired methicillin-resistant Staphylococcus aureus osteomyelitis in an adult: Case report and review of literature

PubMed Central

2012-01-01

Background Methicillin-resistant Staphylococcus aureus (MRSA) has of late emerged as a cause of community-acquired infections among immunocompetent adults without risk factors. Skin and soft tissue infections represent the majority of community-acquired methicillin-resistant Staphylococcus aureus (CA-MRSA) clinical presentations, whilst invasive and life-threatening illness like necrotizing pneumonia, necrotizing fasciitis, pyomyositis, osteomyelitis and sepsis syndrome are less common. Although more widely described in the pediatric age group, the occurrence of CA-MRSA osteomyelitis in adults is an uncommonly reported entity. Case presentation We describe an invasive CA-MRSA infection in a 28 year-old previously healthy male, manifesting with bacteraemia, osteomyelitis of femur, pyomyositis and septic arthritis of the knee. Initially a preliminary diagnosis of osteosarcoma was suggested by imaging studies and patient underwent a bone biopsy. MRSA was subsequently isolated from blood cultures taken on day of admission, bone, tissue and pus cultures. Incision and drainage of abscess was performed and patient was treated with vancomycin, with fusidic acid added later. It took 6 months for the inflammatory markers to normalize, warranting 6-months of anti-MRSA therapy. Patient was a fervent deer hunter and we speculate that he acquired this infection from extensive direct contact with deer. Molecular characterization of this isolate showed that it belonged to multilocus sequence type (MLST) ST30 and exhibited the staphylococcal chromosome cassette mec (SCCmec) type IV, staphylococcus protein A (spa) type t019, accessory gene regulator (agr) type III and dru type dt10m. This strain harbored Panton-Valentine leukocidin (pvl) genes together with 3 other virulent genes; sei (enterotoxin), hlg (hemolysin) and fnbA (fibronectin binding protein). Conclusion This case study alerts physicians that beyond the most commonly encountered skin and soft tissue infections, pvl positive CA-MRSA can lead to invasive life-threatening disease especially in an immunocompetent adult. Heightened alertness is needed for osteomyelitis of long bones in adults, as it is not uncommon for this disease to mimic primary bone malignancy. Cure is achievable with early appropriate antibiotics guided by inflammatory markers. PMID:23098162

Acute haematogenous community-acquired methicillin-resistant Staphylococcus aureus osteomyelitis in an adult: case report and review of literature.

PubMed

Dhanoa, Amreeta; Singh, Vivek Ajit; Mansor, Azura; Yusof, Mohd Yasim; Lim, King-Ting; Thong, Kwai-Lin

2012-10-25

Methicillin-resistant Staphylococcus aureus (MRSA) has of late emerged as a cause of community-acquired infections among immunocompetent adults without risk factors. Skin and soft tissue infections represent the majority of community-acquired methicillin-resistant Staphylococcus aureus (CA-MRSA) clinical presentations, whilst invasive and life-threatening illness like necrotizing pneumonia, necrotizing fasciitis, pyomyositis, osteomyelitis and sepsis syndrome are less common. Although more widely described in the pediatric age group, the occurrence of CA-MRSA osteomyelitis in adults is an uncommonly reported entity. We describe an invasive CA-MRSA infection in a 28 year-old previously healthy male, manifesting with bacteraemia, osteomyelitis of femur, pyomyositis and septic arthritis of the knee. Initially a preliminary diagnosis of osteosarcoma was suggested by imaging studies and patient underwent a bone biopsy. MRSA was subsequently isolated from blood cultures taken on day of admission, bone, tissue and pus cultures. Incision and drainage of abscess was performed and patient was treated with vancomycin, with fusidic acid added later. It took 6 months for the inflammatory markers to normalize, warranting 6-months of anti-MRSA therapy. Patient was a fervent deer hunter and we speculate that he acquired this infection from extensive direct contact with deer.Molecular characterization of this isolate showed that it belonged to multilocus sequence type (MLST) ST30 and exhibited the staphylococcal chromosome cassette mec (SCCmec) type IV, staphylococcus protein A (spa) type t019, accessory gene regulator (agr) type III and dru type dt10m. This strain harbored Panton-Valentine leukocidin (pvl) genes together with 3 other virulent genes; sei (enterotoxin), hlg (hemolysin) and fnbA (fibronectin binding protein). This case study alerts physicians that beyond the most commonly encountered skin and soft tissue infections, pvl positive CA-MRSA can lead to invasive life-threatening disease especially in an immunocompetent adult. Heightened alertness is needed for osteomyelitis of long bones in adults, as it is not uncommon for this disease to mimic primary bone malignancy. Cure is achievable with early appropriate antibiotics guided by inflammatory markers.

[Histological diagnosis and complications of celiac disease. Update according to the new S2k guidelines].

PubMed

Aust, D E; Bläker, H

2015-03-01

Celiac disease is a relatively common immunological systemic disease triggered by the protein gluten in genetically predisposed individuals. Classical symptoms like chronic diarrhea, steatorrhea, weight loss and growth retardation are nowadays relatively uncommon. Diagnostic workup includes serological tests for IgA antibodies against tissue transglutaminase 2 (anti-TG2-IgA) and total IgA and histology of duodenal biopsies. Histomorphological classification should be done according to the modified Marsh-Oberhuber classification. Diagnosis of celiac disease should be based on serological, clinical, and histological findings. The only treatment is a life-long gluten-free diet. Unchanged or recurrent symptoms under gluten-free diet may indicate refractory celiac disease. Enteropathy-associated T-cell lymphoma and adenocarcinomas of the small intestine are known complications of celiac disease.

[Mucha-Habermann disease and orthotopic heart transplant. Case report].

PubMed

Zetina-Tun, Hugo; de la Cerda-Belmont, Gustavo Armando; Lezama-Urtecho, Carlos Alberto; Careaga-Reyna, Guillermo

2013-01-01

Mucha-Habermann disease is a cutaneous clinical manifestation of unknown etiology that frequently appears in young patients. The aim was to present Mucha-Habermann disease that occurred in an old man who had a heart transplant. a 62 year-old male, heart transplant recipient, who four years after that transplantation procedure presented with papular lesions in neck, thoracic members of which extended to all body surfaces and that evolved vesicles and pustular lesions. A skin biopsy was performed and Mucha-Habermann disease was diagnosed. The patient was treated with steroids and antimicrobial therapy with favorable response. After two years there are no skin lesions. Mucha-Habermann disease is a low frequency disease and it requires skin biopsy to confirm diagnose. This is an uncommon case due to the age and kind of patient.

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

Hyperthyroidism as a cause of persistent vomiting.

PubMed

Hoogendoorn, E H; Cools, B M

2004-09-01

A 32-year-old woman presented with persistent vomiting, epigastric pain and weight loss. A sinus tachycardia was the clue to the diagnosis of hyperthyroidism due to Graves' disease. On treatment with propylthiouracil and a beta-blocking agent, her symptoms resolved within one day, even though her free thyroxine level was still high. Hyperthyroidism is an uncommon, but previously reported cause of persistent vomiting.

Development of Graves' disease after long-standing hypothyroidism on treatment, with acute toxicity to thionamides and lithium.

PubMed

Gupta, Yashdeep; Singh, Sandeep; Ammini, Ariachery C

2012-08-01

Thyroid hyperfunction in a patient with long-standing hypothyroidism is uncommon. Here, we describe and discuss the unusual scenario of development of severe skin rash to carbimazole, with subsequent acute toxicity to lithium in clinically indicated doses, in a patient who manifested hyperthyroidism after being on treatment for hypothyroidism for 7 years.

Acquired Aplastic Anemia in Children

PubMed Central

Hartung, Helge D.; Olson, Timothy S.; Bessler, Monica

2013-01-01

SYNOPSIS This article provides a practice-based and concise review of the etiology, diagnosis, and management of acquired aplastic anemia in children. Bone marrow transplantation, immunosuppressive therapy, and supportive care are discussed in detail. The aim is to provide the clinician with a better understanding of the disease and to offer guidelines for the management of children with this uncommon yet serious disorder. PMID:24237973

Classical and unusual imaging appearances of melorheostosis.

PubMed

Suresh, S; Muthukumar, T; Saifuddin, A

2010-08-01

This comprehensive review will discuss the classical and unusual radiological features of melorheostosis, which is an uncommon, non-hereditary, benign, sclerosing mesodermal disease with an incidence of 0.9 cases per million. The presentation of melorheostosis in the appendicular skeleton (more commonly involved) and in the axial skeleton (very few documented case reports) will be discussed. The aim of the review is to illustrate the associations and rare, but recognized, complications of the disorder. The role of cross-sectional imaging in the form of magnetic resonance imaging (MRI) and computed tomography (CT) in revealing the spectrum of disease manifestation and differentiation from other disease entities and malignancy will be explored.

Nephrology key information for internists

PubMed Central

Salim, Sohail Abdul; Medaura, Juan A.; Malhotra, Bharat; Garla, Vishnu; Ahuja, Shradha; Lawson, Nicki; Pamarthy, Amaleswari; Sonani, Hardik; Kovvuru, Karthik; Palabindala, Venkataraman

2017-01-01

ABSTRACT Hospitalists and primary care physicians encounter renal disease daily. Although most cases of acute kidney injury (AKI) are secondary to dehydration and resolve by giving fluids, many cases of AKI are due to not uncommon but unfamiliar causes needing nephrology evaluation. Common indications to consult a nephrologist on an emergency basis include hyperkalemia or volume overload in end stage renal disease patients (ESRD). Other causes of immediate consultation are cresenteric glomerulonephritis / rapidly progressive glomerulonephritis in which renal prognosis of the patient depends on timely intervention. The following evidence-based key information could improve patient care and outcomes. Abbreviations: AKI: Acute kidney injury ESRD: End stage renal disease patients PMID:28638567

Giant pseudoaneurysm of the left ventricular outflow tract: a rare disease.

PubMed

Acioli Pereira, Larissa; Fontes Gontijo, Paula; Alcântara Farran, Jorge; Palandri Chagas, Antonio Carlos; Romano, Edson Renato; Bento de Souza, Luis Carlos

2013-06-01

Pseudoaneurysm of the left ventricular outflow tract (LVOT) is a rare disease with high morbidity and mortality, resulting from left ventricular damage due to myocardial infarction, infective endocarditis or surgical trauma. A case of giant pseudoaneurysm of the LVOT, even more rarely reported in the literature, is described. The lesion was detected 12 years after aortic valve replacement for infective endocarditis in a young patient, a former intravenous drug user. As it is an uncommon disease, little is known about its clinical presentation and treatment. Copyright © 2011 Sociedade Portuguesa de Cardiologia. Published by Elsevier España. All rights reserved.

Ischemic duodenal ulcer, an unusual presentation of sickle cell disease.

PubMed

Julka, Rahul N; Aduli, Farshad; Lamps, Laura W; Olden, Kevin W

2008-03-01

Sickle cell disease is caused by molecular abnormalities in the formation of hemoglobin, leading to pain crisis from recurrent vascular occlusion by sickled hemoglobin. Impaired flow in the microvasculature can lead to ischemia, tissue infarction and ulceration. Abdominal pain, a common complaint in sickle cell disease, can be due to an uncommon etiology, ischemic duodenal ulceration. This is due to primary mucosal infarction caused by sickling, leading to poor healing of infarcted areas. Prompt endoscopic and/or urgent surgical intervention should be considered, particularly if anticoagulation is an issue, as proton pump inhibitor use is ineffective in healing this type of ulcer.

An unusual renal manifestation of chronic HBV infection.

PubMed

Aravindan, Ananthakrishnapuram; Yong, Jim; Killingsworth, Murray; Strasser, Simone; Suranyi, Michael

2010-08-01

Hepatitis B viral infection is usually a self-limiting disease in immunocompetent individuals. Chronic infection can be seen in up to 5% of infected patients. Renal manifestations of chronic HBV infection are usually glomerular. We describe here an uncommon presentation of a patient with chronic HBV infection with very high viral load and rapidly progressive renal failure. Renal biopsy showed features of tubulointerstitial nephritis and tubular epithelial inclusion bodies suggestive of HBV infection. Entecavir treatment slowed down the progression of his renal disease. Tubulointerstitial nephritis should be considered as a part of the differential diagnosis in patients with HBV infection. Early antiviral treatment may halt the progression of renal disease.

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. Copyright © 2016 American Academy of Dermatology, Inc. Published by Elsevier Inc. All rights reserved.

Reptile cardiology.

PubMed

Mitchell, Mark A

2009-01-01

Cardiovascular disease in reptiles generally is considered an uncommon finding in captive animals, but no large-scale, cross-sectional studies have been performed to determine its prevalence. It is possible that cardiovascular disease is more common than is generally accepted and that the current belief results from limited clinical and diagnostic experience. This article offers guidance drawn from the author's clinical experience and the available literature. It is important that veterinarians pursue a thorough history, physical examination, and diagnostic work-up when managing cardiovascular disease in a reptile case. Veterinarians working with these cases should document their findings and share them with their colleagues to build an evidence-based foundation for reptile medicine.

Lymphogranuloma venereum as a cause of rectal strictures.

PubMed Central

Papagrigoriadis, S.; Rennie, J. A.

1998-01-01

Rectal strictures are uncommon in young patients without a history of malignancy, inflammatory bowel disease or previous surgery. Lymphogranuloma venereum of the rectum has been described as a rare cause of rectal strictures in the western world, mainly in homosexual men and in blacks. It presents with nonspecific symptoms, rectal ulcer, proctitis, anal fissures, abscesses and rectal strictures. Clinical and endoscopic findings as well as histology resemble Crohn's disease, which may be misdiagnosed. Serology is often positive for Chlamydia trachomatis but negative serology is not uncommon. We present two young black women who suffered from chronic diarrhoea, abdominal pain and weight loss. There was no previous history and investigations showed in both cases a long rectal stricture. Serology was positive in one patient. They were treated with erythromycin and azithromycin and they both underwent an anterior resection of the rectum. Postoperative histology confirmed the presence of lymphogranuloma venereum of the rectum. We conclude that rectal lymphogranuloma venereum is a rare cause of rectal strictures but surgeons should be aware of its existence and include it in the differential diagnosis of unexplained strictures in high-risk patients. Images Figure 1 Figure 2 PMID:9640444

A case report of chronic granulomatous disease presenting with aspergillus pneumonia in a 2-month old girl.

PubMed

Lee, Eun; Oh, Seak Hee; Kwon, Ji Won; Kim, Byoung Ju; Yu, Jinho; Park, Chan Jeoung; Hong, Soo Jong

2010-06-01

Chronic granulomatous disease (CGD) is an uncommon inherited disorder caused by mutations in any of the genes encoding subunits of the superoxide-generating phagocyte NADPH oxidase system, which is essential for killing catalase producing bacteria and fungi, such as Aspergillus species, Staphylococcus aureus, Serratia marcescens, Nocardia species and Burkholderia cepacia. In case of a history of recurrent or persistent infections, immune deficiency should be investigated. Particularly, in the case of uncommon infections such as aspergillosis in early life, CGD should be considered. We describe here a case of CGD that presented with invasive pulmonary aspergillosis in a 2-month-old girl. We confirmed pulmonary aspergillosis noninvasively through a positive result from the culture of bronchial alveolar lavage fluid, positive serological test for Aspergillus antigen and radiology results. She was successfully treated with Amphotericin B and recombinant IFN-γ initially. Six weeks later after discharge, she was readmitted for pneumonia. Since there were infiltrates on the right lower lung, which were considered as residual lesions, voriconazole therapy was initiated. She showed a favorable response to the treatment and follow-up CT showed regression of the pulmonary infiltrates.

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.

Acute renal failure as a form of presentation of sarcoidosis in a young adult: a case report

PubMed Central

2014-01-01

Introduction Sarcoidosis is a systemic granulomatous disease. Renal involvement is a rare initial presentation of this disease. Few articles on renal involvement as an initial presentation of sarcoidosis have been published in the literature. Case presentation A 26-year-old Caucasian woman presented with acute renal failure as an initial manifestation of sarcoidosis. Conclusions Renal involvement is an uncommon feature of sarcoidosis and it is essential to establish a fast and correct diagnosis because early therapy avoids progression to terminal renal failure. PMID:25124289

Segmental hyperhidrosis as a manifestation of spinal and paraspinal disease.

PubMed

Schulz, V; Ward, D; Moulin, D E

1998-11-01

Segmental hyperhidrosis is an uncommon finding which is usually associated with irritation or infiltration of pre-ganglionic sympathetic fibres or the sympathetic chain. We report two cases of segmental hyperhidrosis with striking clinical features. In one case, a mesothelioma produced ipsilateral simultaneous underactivity and overactivity of sympathetic outflow and in the other case a thoracic central disc herniation was probably responsible for a band of sweating which clearly extended beyond the segmental level of injury. Segmental hyperhidrosis should trigger a search for structural disease in the spinal and paraspinal region.

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

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

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

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. Thismore » 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.« less

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. Copyright © 2015 Elsevier España, S.L.U. y Sociedad Española de Medicina Interna (SEMI). All rights reserved.

[Sirenomelia].

PubMed

García, J; Romero-Araus, J

1996-09-01

Sirenomelia is an uncommon congenital malformation of unknown etiology characterized by all degrees of severity in merning, malrotation, and dysgenesis of the lower limbs, combining as it does malformation with several anomalies of the external and internal organs, specially of the urogenital and gastrointestinal systems and other lumbosacral vertebral abnormalities; the severity of the associated malformations are not compatible with life. A genetic mechanism leading to sirenomelia is unlikely, due to the absence of the familial cases.

Takotsubo Cardiomyopathy Resulting in Cardiac Arrest in a Patient Undergoing Liver Transplantation.

PubMed

Can, M Güner; Özer, A; İyigün, M; Gökay, B Vural; Emiroğlu, R

2017-12-01

Cardiac complications during and after liver transplantation are a common cause of death. Although considered to be uncommon, takotsubo cardiomyopathy, which is characterized by reversible left ventricular akinesis without coronary artery obstruction, is becoming increasingly reported. Herein we have presented a case of reversible stress-induced takotsubo cardiomyopathy resulting in cardiac arrest in a patient undergoing liver transplantation. Copyright © 2017 Elsevier Inc. All rights reserved.

Characterization of Midface Fractures Incurred in Recent Wars

DTIC Science & Technology

2012-11-01

reconstruction . Key Words: Maxillofacial, facial fractures, early rigid fixation, blast injury (J Craniofac Surg 2012;23: 1587 1591) The percentage of...evaluated by a facial trauma expert that some of these findings are made. Conversely, it is not uncommon to find fractures that are incorrectly...þ Robert G. Hale, DDS,þ and Rodney K. Chan, MDþ Background: Facial injuries sustained by US military personnel during the wars in Iraq and

Molecular Characterization of Group A Streptococcus Strains Isolated during a Scarlet Fever Outbreak

PubMed Central

Perea-Mejía, Luis M.; Inzunza-Montiel, Alma E.; Cravioto, Alejandro

2002-01-01

Forty group A streptococcus (GAS) isolates, recovered during a scarlet fever outbreak, were grouped based on their DdeI restriction profiles from emm amplicons. Twenty-seven isolates were identified by sequencing as emm2. The emm2 isolates showed the speA1, speB1, and speC1 alleles. Isolation of this GAS type from scarlet fever outbreaks is uncommon. PMID:11773132

Detection of uncommon G3P[3] rotavirus A (RVA) strain in rat possessing a human RVA-like VP6 and a novel NSP2 genotype.

PubMed

Ianiro, Giovanni; Di Bartolo, Ilaria; De Sabato, Luca; Pampiglione, Guglielmo; Ruggeri, Franco M; Ostanello, Fabio

2017-09-01

Rotavirus is one of the leading causes of acute gastroenteritis in infants and young children. RVAs infect not only humans but also a wide range of mammals including rats, which represent a reservoir of several other zoonotic pathogens. Due to the segmented nature of the RVA genome, animal RVA strains can easily adapt to the human host by reassortment with co-infecting human viruses. This study aims to detect and characterize RVA in the intestinal content of Italian sinantropic rats (Rattus rattus). Out of 40 samples examined following molecular approach, one resulted positive for RVA. The molecular characterization of VP1-4, 6 and 7, and NSP1-5 genes by sequencing revealed the genomic constellation G3-P[3]-I1-R11-C11-M10-A22-N18-T14-E18-H13. This uncommon genomic combination includes: the VP1-4,VP7, the NSP1, 3, 4 and 5 gene segments, closely related to those of RVA from rodents, the N18 novel genotype established for the NSP2 gene segment and the human Wa-like VP6 gene, suggesting interspecies reassortment. Copyright © 2017 Elsevier B.V. All rights reserved.

The Natural History of Oral Human Papillomavirus in Young Costa Rican Women.

PubMed

Beachler, Daniel C; Lang Kuhs, Krystle A; Struijk, Linda; Schussler, John; Herrero, Rolando; Porras, Carolina; Hildesheim, Allan; Cortes, Bernal; Sampson, Joshua; Quint, Wim; Gonzalez, Paula; Kreimer, Aimée R

2017-07-01

Oral human papillomavirus (HPV) infection and related oropharyngeal cancer are uncommon in lower-income countries, particularly compared to HPV-associated cervical cancer. However, little is known about the natural history of oral HPV in less-developed settings and how it compares to the natural history of cervical HPV. Three hundred fifty women aged 22 to 33 years from the Costa Rica Vaccine Trial provided exfoliated cells from the cervical and oral regions at 2 visits 2 years apart. Samples from both visits were tested for 25 characterized α HPV types by the SPF10 PCR-DNA enzyme immunoassay-LiPA25 version 1 system. Risk factors for oral HPV persistence were calculated utilizing generalized estimating equations with a logistic link. Among the 82 women with characterized α oral HPV DNA detected at baseline, 14 persisted and were detected 2 years later (17.6%; 95% confidence interval [CI], 10.9-28.5%) and was similar to the persistence of α cervical HPV (40/223; 17.7%; 95% CI, 13.1-23.9%; P = 0.86). Acquisition of new α oral HPV type was low; incident infection (1.7%; 95% CI, 0.6-3.7%). Oral HPV DNA is uncommon in young women in Latin America, and often appears to clear within a few years at similar rates to cervical HPV.

Clinicopathological review of immunohistochemically defined Kikuchi-Fujimoto disease-including some interesting cases.

PubMed

Seong, Gil Myeong; Kim, Jo-Heon; Lim, Gil Chai; Kim, Jinseok

2012-10-01

Kikuchi-Fujimoto Disease (KFD) is a benign, self-limited disease characterized by tender regional lymphadenopathy with fever. KFD remains a poorly defined disease, and no clear diagnostic criteria are available. Here, we assess the clinical, laboratory, and histopathologic findings of KFD cases and report two unusual cases. Forty KFD patients that underwent lymph node (LN) biopsy and diagnosed by immunohistochemical staining, from January 2003 to November 2010, were enrolled in this retrospective study. The patients had a mean age of 29.3 years, and 29 (72.5 %) were women. Affected LNs were mainly located unilaterally in the cervical area. Mean LN size was 15.3 mm. Twenty-eight (70 %) patients had LN tenderness, and 25 (62.5 %) patients had fever. Leukopenia was observed in 18 of 35 evaluable patients. C-reactive protein and erythrocyte sedimentation rate were elevated in most patients. Anti-nuclear antibody was positive in four of 19 evaluable patients, but all had been diagnosed with concurrent systemic lupus erythematosus. Histologically, the 40 cases were classified into three types, that is, as proliferative (37.5 %), necrotizing (55.0 %), or xanthomatous (7.5 %). Interesting cases: Case 1 was a 35-year-old female with KFD and uveitis, retinal vasculitis, and superior sagittal sinus thrombosis. Case 2 was a 47-year-old male with KFD and bone marrow involvement and presented with severe bicytopenia. Although KFD is an uncommon self-limited benign disorder, it must be included in the differential diagnosis of lymphadenopathy with fever and cytopenia. It is important that the clinical features of KFD be understood to reach a correct diagnosis.

Third wave of African swine fever infection in Armenia: Virus demonstrates the reduction of pathogenicity

PubMed Central

Sargsyan, M. A.; Voskanyan, H. E.; Karalova, E. M.; Hakobyan, L. H.; Karalyan, Z. A.

2018-01-01

Aim: First cases of clinically uncommon African swine fever (ASF), caused by virus genotype II are described in this article. These cases occurred in Armenia, Tavush region, Dilijan municipality in 2011. The aim of this study was to identify and describe the new pathogenic forms of ASF in Armenia. Materials and Methods: The isolation and identification of ASF virus (ASFV) were carried out using conventional techniques. Clinical signs of infection were recorded daily. Gross anatomical pathology characteristics were observed during routine postmortem examinations. Blood and serum were obtained by puncture of the jugular vein using a vacutainer system. Results: The presence of ASFV DNA in the spleens was confirmed by polymerase chain reaction. Sequenced sections of p72 showed phylogenetic identity to genotype 2. The pathology exhibits unusual manifestations of the main disease. The unusual form of ASF demonstrates characteristics of a subacute form of the disease, with the possibility of conversion to a chronic form. Decreased lethality, low level of hemorrhages, and absence of severe pancytopenia in smears from spleen, lymph nodes, and blood are common features of the new form of ASF. Unlike severe thrombocytopenia in the typical ASF, the unusual form exhibited moderate or minor decrease of this feature. Despite a moderate decrease in hemadsorption titers, the unusual pattern of the disease was characterized by viremia and the presence of the virus in the visceral organs, including the brain. Conclusion: Our data allow assuming that new nosological form of ASF (genotype II) may present as a transitional form of the disease with the possibility of chronization. PMID:29479149

A population-specific uncommon variant in GRIN3A associated with schizophrenia.

PubMed

Takata, Atsushi; Iwayama, Yoshimi; Fukuo, Yasuhisa; Ikeda, Masashi; Okochi, Tomo; Maekawa, Motoko; Toyota, Tomoko; Yamada, Kazuo; Hattori, Eiji; Ohnishi, Tetsuo; Toyoshima, Manabu; Ujike, Hiroshi; Inada, Toshiya; Kunugi, Hiroshi; Ozaki, Norio; Nanko, Shinichiro; Nakamura, Kazuhiko; Mori, Norio; Kanba, Shigenobu; Iwata, Nakao; Kato, Tadafumi; Yoshikawa, Takeo

2013-03-15

Genome-wide association studies have successfully identified several common variants showing robust association with schizophrenia. However, individually, these variants only produce a weak effect. To identify genetic variants with larger effect sizes, increasing attention is now being paid to uncommon and rare variants. From the 1000 Genomes Project data, we selected 47 candidate single nucleotide variants (SNVs), which were: 1) uncommon (minor allele frequency < 5%); 2) Asian-specific; 3) missense, nonsense, or splice site variants predicted to be damaging; and 4) located in candidate genes for schizophrenia and bipolar disorder. We examined their association with schizophrenia, using a Japanese case-control cohort (2012 cases and 2781 control subjects). Additional meta-analysis was performed using genotyping data from independent Han-Chinese case-control (333 cases and 369 control subjects) and family samples (9 trios and 284 quads). We identified disease association of a missense variant in GRIN3A (p.R480G, rs149729514, p = .00042, odds ratio [OR] = 1.58), encoding a subunit of the N-methyl-D-aspartate type glutamate receptor, with study-wide significance (threshold p = .0012). This association was supported by meta-analysis (combined p = 3.3 × 10(-5), OR = 1.61). Nominally significant association was observed in missense variants from FAAH, DNMT1, MYO18B, and CFB, with ORs of risk alleles ranging from 1.41 to 2.35. The identified SNVs, particularly the GRIN3A R480G variant, are good candidates for further replication studies and functional evaluation. The results of this study indicate that association analyses focusing on uncommon and rare SNVs are a promising way to discover risk variants with larger effects. Copyright © 2013 Society of Biological Psychiatry. Published by Elsevier Inc. All rights reserved.

Giant Cutaneous Horn Overlying A Verruca at an Uncommon Site: Medical Marvel vs Superstitious Dilemma.

PubMed

Sanjeeva, Karthik Kathladka; Ali, Puttur Sainuddin Mohammed Ameer; Pinto, Malcolm; Rao, Srikar; Rai, Arvind Shivram

2015-04-01

Cutaneous horn has been a matter of discussion to mankind since time immemorial and a subject of fascination for the layman. There have been instances where certain groups saw it with angst and disgust, with a person having a large cutaneous horn on an exposed area getting a dismal look. We present a case of a 64-year-old man with a giant cutaneous horn over his left gluteal region. Cutaneous horns more commonly present in the sun-exposed areas. In our case it has presented in an uncommon site. The patient had delayed and denied medical treatment due to his superstitious beliefs, after having sought advice from faith healers leading to progression of the disease. This case has been presented for its giant size (rare variety), its location being over the gluteal region (photo-protected site) and its benign histopathology suggestive of wart in spite of the giant size.

[Diabetes insipidus and pregnancy].

PubMed

Gutiérrez Cruz, Oswaldo; Careaga Benítez, Ricardo

2007-04-01

Diabetes insipidus is an uncommon pathology; its incidence varies from two to six cases in 100,000 pregnancies. It has multiple etiologies and it is classified in central and neurogenic. Patients with diabetes insipidus generally show intense thirst, polyuria, neurologic symptoms and hypernatremia. It does not seem to alter the patient's fertility. Diabetes insipidus is usually associated with pre-eclampsia, HELLP syndrome, and fatty liver disease of pregnancy. This is a report of a case seen at the Hospital General de Cholula, in Puebla, Mexico. A 19 year-old female, with 37.2 weeks of pregnancy, had a history of Langerhans cell histiocytosis since she was four years. Patient was treated with intranasal desmopressin until 2005. She went to an obstetric evaluation; laboratory and cabinet studies were obtained. A healthy 1900 g female was obtained through vaginal delivery, with a 7/9 Apgar score. We should be familiarized with this uncommon pathology because of its association with several obstetric emergencies.

An Italian multicentre study on adult atopic dermatitis: persistent versus adult-onset disease.

PubMed

Megna, Matteo; Patruno, Cataldo; Balato, Anna; Rongioletti, Franco; Stingeni, Luca; Balato, Nicola

2017-08-01

Atopic dermatitis (AD) is a chronic, recurrent, inflammatory skin disease which predominantly affects children. However, AD may persist until adulthood (persistent AD), or directly start in adults (adult-onset AD). AD often shows a non-flexural rash distribution, and atypical morphologic variants in adults and specific diagnostic criteria are lacking. Moreover, adult AD prevalence as well as detailed data which can characterize persistent vs adult-onset subtype are scant. The aim of this study was to investigate on the main features of adult AD particularly highlighting differences between persistent vs adult-onset form. An Italian multicentre observational study was conducted between April 2015-July 2016 through a study-specific digital database. 253 adult AD patients were enrolled. Familiar history of AD was negative in 81.0%. Erythemato-desquamative pattern was the most frequent clinical presentation (74.3%). Flexural surface of upper limbs was most commonly involved (47.8%), followed by eyelid/periocular area (37.9%), hands (37.2%), and neck (32%). Hypertension (7.1%) and thyroiditis (4.3%) were the most frequent comorbidities. A subgroup analysis between persistent (59.7%) vs adult-onset AD patients (40.3%) showed significant results only regarding AD severity (severe disease was more common in persistent group, p < 0.05), itch intensity (higher in adult-onset disease), and comorbidities (hypertension was more frequent in adult-onset group, p < 0.01). Adult AD showed uncommon features such as significant association with negative AD family history and lacking of association with systemic comorbidities respect to general population. No significant differences among persistent vs adult-onset subgroup were registered except for hypertension, itch intensity, and disease severity.

State of the Art: Clinical Applications of Cardiac T1 Mapping.

PubMed

Schelbert, Erik B; Messroghli, Daniel R

2016-03-01

While cardiovascular magnetic resonance (MR) has become the noninvasive tool of choice for the assessment of myocardial viability and for the detection of acute myocardial edema, cardiac T1 mapping is believed to further extend the ability of cardiovascular MR to characterize the myocardium. Fundamentally, cardiovascular MR can improve diagnosis of disease that historically has been challenging to establish with other imaging modalities. For example, decreased native T1 values appear highly specific to detect and quantify disease severity related to myocardial iron overload states or glycosphingolipid accumulation in Anderson-Fabry disease, whereas high native T1 values are observed with edema, amyloid, and other conditions. Cardiovascular MR can also improve the assessment of prognosis with parameters that relate to myocardial structure and composition that complement the familiar functional parameters around which contemporary cardiology decision making revolves. In large cohorts, extracellular volume fraction (ECV) has been shown to quantify the full extent of myocardial fibrosis in noninfarcted myocardium. ECV may predict outcomes at least as effectively as left ventricular ejection fraction. This uncommon statistical observation (of potentially being more strongly associated with outcomes than ejection fraction) suggests prime biologic importance for the cardiac interstitium that may rank highly in the hierarchy of vast myocardial changes occurring in cardiac pathophysiology. This article presents current and developing clinical applications of cardiac T1 mapping and reviews the existing evidence on their diagnostic and prognostic value in various clinical conditions. This article also contextualizes these advances and explores how T1 mapping and ECV may affect major "global" issues such as diagnosis of disease, risk stratification, and paradigms of disease, and ultimately how we conceptualize patient vulnerability.

Clinical challenges of thyroid eye disease in HIV-positive patients on highly active antiretroviral therapy.

PubMed

Edmunds, Matthew R; Mellington, Faye; Ford, Rebecca L; Torlinska, Barbara; Manavi, Kaveh; Boelaert, Kristien

2015-03-01

Graves' disease (GD) as an immune reconstitution inflammatory syndrome during highly active antiretroviral therapy (HAART) for HIV has previously been reported. However, clinical challenges associated with HIV in the context of thyroid eye disease (TED) are not as well-characterized. To determine the frequency of coexisting HIV and TED, describe TED presentation and course in the context of HIV, and evaluate management difficulties as well as potential solutions. Cross-sectional study of all patients with coexisting GD and HIV at University Hospitals Birmingham (2003-2014). Retrospective case note review to identify TED with particular reference to HAART regimen, CD4+ T-cell count, HIV viral load, and TED activity and severity. Of 783 subjects with GD and 1186 with HIV, 11 were identified with both GD and HIV. Of these, three had clinical features of TED; each was of Afro-Caribbean origin, was in their fourth decade, and initially presented with undetectable CD4 T cells and high HIV viral loads. All went on to develop GD >3 years after commencing HAART, with normal CD4 count and undetectable viral load at the time of GD diagnosis. The full spectrum of TED was represented, with two subjects requiring orbital decompression surgery. TED in the context of HIV is uncommon. Many challenges exist in such patients, particularly HAART drug interactions with antithyroid and immunosuppressant medications. To better understand TED in HIV and to counsel patients with this copathology most effectively, future multicenter surveillance is required.

Molecular characterization of encephalitic bovine listeriosis from southern Brazil.

PubMed

Headley, Selwyn A; Fritzen, Juliana T T; Queiroz, Gustavo R; Oliveira, Rodrigo A M; Alfieri, Alice F; Di Santis, Giovana W; Lisbôa, Júlio A N; Alfieri, Amauri A

2014-01-01

Reports of bovine listeriosis in Brazil are uncommon, being restricted to citations within retrospective studies, resulting in scarce documented information of this important disease of cattle. This manuscript describes the molecular findings associated with spontaneous encephalitic listeriosis in two steers from distinct herds within the state of Paraná, southern Brazil. Both animals demonstrated altered consciousness suggestive of brain stem dysfunctions and died a few days after the initial onset of disease. Polymerase chain reaction (PCR) assays were designed to target specific genes of infectious neurological agents of cattle. These included bovine herpesvirus 1 and 5 (BoHV-1 and BoHV-5), ovine herpesvirus 2 (OvHV-2), Listeria monocytogenes, and Histophilus somni. Rabies virus was discarded in evaluations done at the official state diagnostic laboratory. Gross alterations were insignificant; histopathology demonstrated rhombencephalitis associated with macrophage-predominant, multifocal to coalescing microabscesses and extensive perivascular cuffings in both steers. The L. monocytogenes PCR assay amplified the 172-bp amplicon of the listeriolysin gene from the brain stem of both animals and from the telencephalon, thalamus, and cerebellum of one of them. Phylogenetic analyses demonstrated that the strains derived from this study clustered with known strains of L. monocytogenes lineage I. The BoHV-1 and BoHV-5, OvHV-2, and H. somni PCR assays were negative. These results confirm the participation of L. monocytogenes lineage I in the etiopathogenesis of the neurological disease herein described and represent the first complete description of encephalitic listeriosis in cattle from Brazil.

Cutaneous manifestations associated with adult-onset Still's disease: important diagnostic values.

PubMed

Yamamoto, Toshiyuki

2012-08-01

Adult-onset Still's disease (AOSD) is a systemic inflammatory condition, characterized by a high spiking fever, leukocytosis with neutrophilia, arthralgia, and skin rash. Typical skin rash is an evanescent, salmon-pink erythema predominantly involving extremities, which is included as one of the diagnostic criteria; however, recent findings show that not only typical evanescent rash but also various skin lesions are associated with AOSD. The representative characteristic skin lesion among the non-classical skin rash is called persistent pruritic papules and plaques, which presents erythematous, slightly scaly papules with linear configuration on the trunk. Interestingly, persistent pruritic papules and plaques show unique histological features such as peculiar, distinctive distribution of dyskeratotic keratinocytes in the cornified layers as well as in the epidermis. Other non-classical skin lesions include urticaria. Current insights suggest that several inflammatory cytokines such as interleukin-1 (IL-1), IL-6, IL-18, interferon-γ (IFN-γ) and tumor necrosis factor-α (TNF-α) play a pathogenic role in AOSD. In particular, IL-18 is suggested to play a crucial role in activating macrophages, favoring Th1 type cytokine production. IL-18 induces IFN-γ, IL-17, and TNF-α, which may play an important pathogenic role in AOSD. It is important to recognize the common and/or uncommon skin conditions of AOSD for early correct diagnosis. In this review, various skin lesions are introduced, and the complication with histiocytic necrotizing lymphadenitis (Kikuchi disease) is further discussed.

Chronic parotitis with multiple calcifications: Clinical and sialendoscopic findings.

PubMed

Jáuregui, Emmanuel; Kiringoda, Ruwan; Ryan, William R; Eisele, David W; Chang, Jolie L

2017-07-01

To characterize clinical, imaging, and sialendoscopy findings in patients with chronic parotitis and multiple parotid calcifications. Retrospective review. Clinical history, radiographic images and reports, lab tests, and operative reports were reviewed for adult patients with chronic parotitis and multiple parotid calcifications who underwent parotid sialendoscopy. Thirteen of 133 (10%) patients undergoing parotid sialendoscopy for chronic sialadenitis had more than one calcification in the region of the parotid gland. Seven patients (54%) were diagnosed with immune-mediated disease from autoimmune parotitis (positive Sjögren's antibodies or antinuclear antibodies) or human immunodeficiency virus (HIV) disease. The six patients (46%) who did not have an immune-mediated disorder had most calcifications located anterior or along the masseter muscle. Eight of 13 patients (61%) had at least one calculus found in the parotid duct on sialendoscopy. Four patients (38%) had multiple punctate calcifications within the parotid gland, all of whom had either autoimmune parotitis or HIV. None of the proximal or punctate parotid calcifications posterior to the masseter were visualized on sialendoscopy. Chronic parotitis in conjunction with multiple parotid calcifications is uncommon and was identified in 10% of our cohort. We contrast two classifications of parotid calcifications: 1) intraductal stones that cause recurrent duct obstruction and are often located within the main parotid duct along or anterior to the masseter and 2) punctate intraparenchymal parotid gland calcifications that are not visualized on sialendoscopy and may represent underlying inflammatory disease. 4 Laryngoscope, 127:1565-1570, 2017. © 2016 The American Laryngological, Rhinological and Otological Society, Inc.

The risks of overlooking the diagnosis of secreting pituitary adenomas.

PubMed

Brue, Thierry; Castinetti, Frederic

2016-10-06

Secreting pituitary adenomas that cause acromegaly and Cushing's disease, as well as prolactinomas and thyrotroph adenomas, are uncommon, usually benign, slow-growing tumours. The rarity of these conditions means that their diagnosis is not familiar to most non-specialist physicians. Consequently, pituitary adenomas may be overlooked and remain untreated, and affected individuals may develop serious comorbidities that reduce their quality of life and life expectancy. Because many signs and symptoms of pituitary adenomas overlap with those of other, more common disorders, general practitioners and non-endocrinology specialists need to be aware of the "red flags" suggestive of these conditions. A long duration of active disease in patients with secreting pituitary adenomas is associated with an increased risk of comorbidities and reduced quality of life. Appropriate treatment can lead to disease remission, and, although some symptoms may persist in some patients, treatment usually reduces the incidence and severity of comorbidities and improves quality of life. Therefore, correct, early diagnosis and characterization of a pituitary adenoma is crucial for patients, to trigger timely, appropriate treatment and to optimize outcome. This article provides an overview of the epidemiology of hormonal syndromes associated with pituitary adenomas, discusses the difficulties of and considerations for their diagnosis, and reviews the comorbidities that may develop, but can be prevented, by accurate diagnosis and appropriate treatment. We hope this review will help general practitioners and non-endocrinology specialists to suspect secreting pituitary adenomas and refer patients to an endocrinologist for confirmation of the diagnosis and treatment.

Innovative Surgical Management of the Synovial Chondromatosis of Temporo-Mandibular Joints: Highly Conservative Surgical Technique.

PubMed

Ionna, Franco; Amantea, Massimiliano; Mastrangelo, Filiberto; Ballini, Andrea; Maglione, Maria Grazia; Aversa, Corrado; De Cecio, Rossella; Russo, Daniela; Marrelli, Massimo; Tatullo, Marco

2016-07-01

Synovial chondromatosis (SC) is an uncommon disease characterized by a benign nodular cartilaginous proliferation arising from the joint synovium, bursae, or tendon sheaths. Although the temporomandibular joint is rarely affected by neoplastic lesions, SC is the most common neoplastic lesion of this joint. The treatment of this disease consists in the extraoral surgery with a wide removal of the lesion; in this study, the authors described a more conservative intraoral surgical approach. Patient with SC of temporomandibular joint typically refer a limitation in the mouth opening, together with a persistent not physiological mandibular protrusion and an appearance of a neoformation located at the right preauricular region: the authors reported 1 scholar patient. After biopsy of the neoformation, confirming the synovial chondromatosis, the patient underwent thus to the surgical excision of the tumor, via authors' conservative transoral approach, to facilitate the enucleation of the neoformation. The mass fully involved the pterygo-maxillary fossa with involvement of the parotid lodge and of the right TMJ: this multifocal extension suggested for a trans-oral surgical procedure, in the light of the suspicion of a possible malignant nature of the neoplasm. Our intraoral conservative approach to surgery is aimed to reduce the presence of unaesthetic scars in preauricular and facial regions, with surgical results undoubtedly comparable to the traditional surgical techniques much more aggressive. Our technique could be a valid, alternative, and safe approach to treat this rare and complex kind of oncological disease.

Diffuse Parenchymal Diseases Associated With Aluminum Use and Primary Aluminum Production

PubMed Central

2014-01-01

Aluminum use and primary aluminum production results in the generation of various particles, fumes, gases, and airborne materials with the potential for inducing a wide range of lung pathology. Nevertheless, the presence of diffuse parenchymal or interstitial lung disease related to these processes remains controversial. The relatively uncommon occurrence of interstitial lung diseases in aluminum-exposed workers—despite the extensive industrial use of aluminum—the potential for concurrent exposure to other fibrogenic fibers, and the previous use of inhaled aluminum powder for the prevention of silicosis without apparent adverse respiratory effects are some of the reasons for this continuing controversy. Specific aluminum-induced parenchymal diseases described in the literature, including existing evidence of interstitial lung diseases, associated with primary aluminum production are reviewed. PMID:24806728

Hydatid disease in childhood: revisited report of an interesting case.

PubMed

Jairajpuri, Zeeba Shamim; Jetley, Sujata; Hassan, Md Jaseem; Hussain, Musharraf

2012-10-01

Hydatid disease is a zoonosis caused by the tapeworm of Echinococcus spp. The disease is widely endemic in many sheep and cattle rearing locales. However, hydatidosis does not remain restricted to endemic geographical locales anymore but rather is a global health concern. It is a major public health burden causing significant morbidity and mortality. Echinococcus granulosus involvement in children has a different pattern than adults. Children of all age groups are susceptible and localization of the disease in the lungs is more commonly seen. Multiple liver cysts in the paediatric age group is relatively uncommon. We report an interesting case of multiple liver cysts in a 5-year old boy which was diagnosed as hydatid cysts on histopathological examination.

Kidney diseases caused by glomerular basement membrane type IV collagen defects in dogs.

PubMed

Lees, George E

2013-01-01

To review the pathogenesis, as well as the clinical and pathologic features of canine glomerular diseases caused by genetic type IV collagen defects. Original studies and review articles from human and veterinary medical fields. Presence in glomerular basement membranes (GBM) of a network composed of α3.α4.α5 heterotrimers of type IV collagen is required to maintain structure and function of glomerular capillary walls. Hereditary nephropathy (HN) is the most commonly used name for kidney diseases that occur in dogs due to genetic type IV collagen abnormalities. To date, 4 different collagen IV gene mutations have been identified in dogs with HN; 2 are COL4A5 mutations that cause X-linked HN (XL-HN), and 2 are COL4A4 mutations that cause autosomal recessive HN (AR-HN). Affected males with XL-HN and affected males and females with AR-HN develop juvenile-onset kidney disease manifested by proteinuria typically starting at 3-6 months of age and followed by progressive kidney disease leading to terminal failure usually at 6-24 months of age. Carrier female dogs with XL-HN also develop proteinuria starting at 3-6 months of age, but progressive disease causing kidney failure is uncommon until they are >5 years old. The distinctive pathologic lesions of HN are extensive multilaminar splitting and thickening of the GBM, as demonstrated by electron microscopy, and abnormal type IV collagen α-chain content of basement membranes, as demonstrated by immunolabeling. Identification of the underlying gene mutations has permitted genetic testing and selective breeding practices that currently are minimizing HN in breeds known to be at risk. Canine HN is a rare disease that should be considered whenever a dog exhibits a juvenile-onset kidney disease characterized partly by proteinuria, but highly specialized methods are required to pursue a definitive diagnosis. © Veterinary Emergency and Critical Care Society 2013.

Neonatal Graves' Disease with Maternal Hypothyroidism.

PubMed

Akangire, Gangaram; Cuna, Alain; Lachica, Charisse; Fischer, Ryan; Raman, Sripriya; Sampath, Venkatesh

2017-07-01

Neonatal Graves' disease presenting as conjugated hyperbilirubinemia is a diagnostic challenge because the differential includes a gamut of liver and systemic diseases. We present a unique case of neonatal Graves' disease in a premature infant with conjugated hyperbilirubinemia born to a mother with hypothyroidism during pregnancy and remote history of Graves' disease. Infant was treated with a combination of methimazole, propranolol, and potassium iodide for 4 weeks. Thyroid function improved after 8 weeks of treatment with full recovery of thyroid function, disappearance of thyroid-stimulating antibodies, and resolution of failure to thrive and conjugated hyperbilirubinemia. This case provides several clinical vignettes as it is a rare, severe, presentation of an uncommon neonatal disease, signs, symptoms, and clinical history presented a diagnostic challenge for neonatologists and endocrinologists, normal newborn screen was misleading, and yet timely treatment led to a full recovery.

Elephantiasis nostras verrucosa on the legs and abdomen with morbid obesity in an Indian lady.

PubMed

Sarma, Podila S; Ghorpade, Ashok

2008-12-15

Elephantiasis nostras verrucosa (ENV) of the legs and abdomen in a morbidly obese woman with multiple medical problems is reported. The diagnosis was suggested by the classical clinical features and confirmed by histopathology. The patient succumbed due to her multisystem diseases. Elephantiasis nostras verrucosa involving the abdomen is uncommon and has been reported only five times in the past.

Nosocomial Endocarditis Caused by Corynebacterium amycolatum and Other Nondiphtheriae Corynebacteria

PubMed Central

Holmes, Alison H.

2002-01-01

The nondiphtheriae corynebacteria are uncommon but increasingly recognized as important agents of community-acquired endocarditis in patients with underlying structural heart disease, as well as of prosthetic-valve endocarditis. We describe three cases of nondiphtheriae corynebacterial endocarditis, including the first reported case of endocarditis caused by Corynebacterium amycolatum, occurring over an 18-month period, all in association with indwelling intravascular devices. PMID:11749760

Hypertensive Crisis in A Young Woman: A Rare Presentation of an Uncommon Disease (Poster), New Nerve racking Neurologic Symptoms (Podium)

DTIC Science & Technology

2017-04-26

of I :80 in a speckled pattern. lgG4 sub-classes were norma l. Serum creatinine was 1.37 with 1.3 grams of protein/24 hours. Laboratory evaluation of...mycobacterium infection • E. Multiple myeloma • Ilium Bone Biopsy • LP #3 Cytology + for GATA-3 1 staining , atypical cells, consistent with

Percutaneous tricuspid valvotomy for pacemaker lead-induced tricuspid stenosis

PubMed Central

Patil, Devendra V.; Nabar, Ashish A.; Sabnis, Girish R.; Phadke, Milind S.; Lanjewar, Charan P.; Kerkar, Prafulla G.

2015-01-01

Permanent pacemaker lead-induced tricuspid regurgitation is extremely uncommon. We report a patient with severe tricuspid stenosis detected 10 years after permanent single chamber pacemaker implantation in surgically corrected congenital heart disease. The loop at the level of the tricuspid valve may have caused endothelial injury and eventually led to stenosis. Percutaneous balloon valvotomy for such stenosis has not been reported from India. PMID:26995417

Metastatic basal cell carcinoma: case series and review of the literature.

PubMed

Tang, Simon; Thompson, Stephen; Smee, Robert

2017-05-01

Metastatic basal cell carcinoma is exceedingly uncommon, with a poorly defined natural history, and its incidence, risk factors, patterns of spread, prognosis and potential treatment options are not well understood. This retrospective single institution case series aims to shed light on these issues. Aggressive local management in patients with locoregional disease may result in long-term survivors. © 2016 The Australasian College of Dermatologists.

Telangiectatic osteosarcoma affecting the mandible

PubMed Central

Naik, LR Kumaraswamy; Shetty, Pushparaja; Teerthanath, S; Jagadeesh, H Makannavar

2014-01-01

Osteosarcomas are relatively rare in jaws and maxillomandibular lesions in children are distinctly uncommon. Telengiactic osteosarcomas in jaws are still a very rare variant and till now just 3 cases are reported in English literature. Herein, we report the first case of telangiectatic osteosarcoma occurring in mandible in pediatric patient. Patient was treated by hemimandibulectomy and is free of disease since seven years with regular follow-up. PMID:25364166

Telangiectatic osteosarcoma affecting the mandible.

PubMed

Naik, Lr Kumaraswamy; Shetty, Pushparaja; Teerthanath, S; Jagadeesh, H Makannavar

2014-09-01

Osteosarcomas are relatively rare in jaws and maxillomandibular lesions in children are distinctly uncommon. Telengiactic osteosarcomas in jaws are still a very rare variant and till now just 3 cases are reported in English literature. Herein, we report the first case of telangiectatic osteosarcoma occurring in mandible in pediatric patient. Patient was treated by hemimandibulectomy and is free of disease since seven years with regular follow-up.

A rare case of low-solute hyponatremia in a nonalcoholic person.

PubMed

Srisung, Weeraporn; Mankongpaisarnrung, Charoen; Anaele, Cyriacus; Dumrongmongcolgul, Nat; Ahmed, Vaqar

2015-01-01

Low-solute hyponatremia is a relatively uncommon entity of euvolemic hyponatremia. Classic cases were described in alcoholics as beer potomania, which is characterized by hyponatremia in the setting of low-solute intake due to heavy beer drinking. We report a case of low-solute hyponatremia in a nonalcoholic person who was given a solute load, and, subsequently, had excessive diuresis with the resultant rapid increase in serum sodium concentration.

[Gastric adenomyoma clinically simulating hypertrophic pyloric stenosis].

PubMed

Sánchez García, S; Rubio Solís, D; Anes González, G; González Sánchez, S

2016-01-01

Gastric adenomyomas are extremely uncommon benign tumors in children. On histologic examination, these tumors have an epithelial component similar to pancreatic ducts. We present a case of a pyloric adenomyoma that clinically simulated hypertrophic pyloric stenosis in a newborn girl. Imaging tests, fundamentally magnetic resonance imaging, were very important in the characterization and diagnosis of this entity. Copyright © 2016 SERAM. Published by Elsevier España, S.L.U. All rights reserved.

Naval Law Review, Volume 56, 2008

DTIC Science & Technology

2008-01-01

ensuring it is not used to the detriment of others. In the classic 1927 Permanent Court of Justice case, S.S. Lotus , John Basset Moore, writing in...competing rights by determining that the right of 84 S.S. Lotus (Fr. v. Turk.) 1927 P.C.I.J. (ser. A) No...physical abuse and food deprivation are not uncommon. 171 Not surprisingly, at least one critic has characterized the Japanese legal system as “abnormal

Gastritis cystica profunda recurrence after surgical resection: 2-year follow-up

PubMed Central

2014-01-01

Background Gastritis cystica profunda (GCP) is an uncommon disease characterized by multiple cystic gastric glands within the submucosa of the stomach. Case description Here, we present a case of a 63-year-old man with intermittent epigastric discomfort in whom gastroscopy revealed multiple irregular elevated nodular lesions with smooth surfaces at the anterior of the antrum. Surgical resection of the nodular lesions was performed, and the diagnosis of gastritis cystica profunda (GCP) was confirmed by histological examination. Another elevated nodular lesion approximately 10 mm in diameter with an ulcer was found on the gastric side of the remnant stomach near the resection side from 6 to 24 months after the surgical resection. Endoscopic ultrasonography (EUS) and repeated biopsies of the new elevated lesion were performed. Homogeneous, anechoic masses originating from the submucosa without gastric adenocarcinoma in histological examination showed GCP recurrence may occur. Conclusions We report a case of GCP recurrence within 6 months after surgical resection. GCP should be considered in the differential diagnosis of elevated lesions in the stomach. PMID:24885818

Genetic risk factors of systemic lupus erythematosus in the Malaysian population: a minireview.

PubMed

Chai, Hwa Chia; Phipps, Maude Elvira; Chua, Kek Heng

2012-01-01

SLE is an autoimmune disease that is not uncommon in Malaysia. In contrast to Malays and Indians, the Chinese seem to be most affected. SLE is characterized by deficiency of body's immune response that leads to production of autoantibodies and failure of immune complex clearance. This minireview attempts to summarize the association of several candidate genes with risk for SLE in the Malaysian population and discuss the genetic heterogeneity that exists locally in Asians and in comparison with SLE in Caucasians. Several groups of researchers have been actively investigating genes that are associated with SLE susceptibility in the Malaysian population by screening possible reported candidate genes across the SLE patients and healthy controls. These candidate genes include MHC genes and genes encoding complement components, TNF, FcγR, T-cell receptors, and interleukins. However, most of the polymorphisms investigated in these genes did not show significant associations with susceptibility to SLE in the Malaysian scenario, except for those occurring in MHC genes and genes coding for TNF-α, IL-1β, IL-1RN, and IL-6.

Genetic Risk Factors of Systemic Lupus Erythematosus in the Malaysian Population: A Minireview

PubMed Central

Chai, Hwa Chia; Phipps, Maude Elvira; Chua, Kek Heng

2012-01-01

SLE is an autoimmune disease that is not uncommon in Malaysia. In contrast to Malays and Indians, the Chinese seem to be most affected. SLE is characterized by deficiency of body's immune response that leads to production of autoantibodies and failure of immune complex clearance. This minireview attempts to summarize the association of several candidate genes with risk for SLE in the Malaysian population and discuss the genetic heterogeneity that exists locally in Asians and in comparison with SLE in Caucasians. Several groups of researchers have been actively investigating genes that are associated with SLE susceptibility in the Malaysian population by screening possible reported candidate genes across the SLE patients and healthy controls. These candidate genes include MHC genes and genes encoding complement components, TNF, FcγR, T-cell receptors, and interleukins. However, most of the polymorphisms investigated in these genes did not show significant associations with susceptibility to SLE in the Malaysian scenario, except for those occurring in MHC genes and genes coding for TNF-α, IL-1β, IL-1RN, and IL-6. PMID:21941582

Vedolizumab for the treatment of ulcerative colitis and Crohn’s disease

PubMed Central

McLean, Leon P; Shea-Donohue, Terez; Cross, Raymond K

2013-01-01

Crohn’s disease and ulcerative colitis are chronic, relapsing inflammatory disorders of the GI tract. In both Crohn’s disease and ulcerative colitis, leukocytic infiltration of the mucosa is associated with epithelial damage. Recently, monoclonal antibodies directed against cell adhesion molecules (CAMs) involved in leukocyte extravasation have been developed. Natalizumab, the first drug brought to market targeting CAMs, is clinically effective but is associated with serious adverse effects including the uncommon, but often fatal, neurological disease progressive multifocal leukoencephalopathy. Vedolizumab targets a subset of the CAMs blocked by natalizumab and is currently in Phase III trials to study its efficacy and safety in patients with inflammatory bowel disease. Here, we discuss the current treatment options available for patients with Crohn’s disease or ulcerative colitis, the history of CAM inhibitors, the current state of development of vedolizumab and its future role in inflammatory bowel disease, if approved by regulatory agencies. PMID:23046232

Personality profile and affective state of patients with inflammatory bowel disease.

PubMed Central

Robertson, D A; Ray, J; Diamond, I; Edwards, J G

1989-01-01

The Eysenck Personality Inventory and Hospital Anxiety and Depression scale were administered to 80 patients undergoing medical treatment for long standing inflammatory bowel disease: 22 patients were studied before the diagnosis was established and 40 patients with diabetes mellitus served as controls. High neuroticism and introversion scores were more prevalent in the patients with inflammatory bowel disease than controls (p less than 0.05) and these characteristics were as prominent in patients before diagnosis as in established cases. Introversion scores increased with the duration of disease (r = 0.51). Depression was uncommon, occurring only in patients with active chronic disease. Patients believed there was a close link between personality, stress and disease activity. Fifty six of the patients recognised factors that initiated the disease and in 42 this was thought to be a stressful life event or a 'nervous personality'. PMID:2731754

Clinical and molecular effect on offspring of a marriage of consanguineous spinocerebellar ataxia type 7 mutation carriers: a family case report

PubMed Central

Magaña, Jonathan J; Tapia-Guerrero, Yessica S; Velázquez-Pérez, Luis; Cruz-Mariño, Tania; Cerecedo-Zapata, Cesar M; Gómez, Rocío; Murillo-Melo, Nadia M; González-Piña, Rigoberto; Hernández-Hernández, Oscar; Cisneros, Bulmaro

2014-01-01

Spinocerebellar ataxia type 7 (SCA7) is a genetic disorder characterized by degeneration of the cerebellum, brainstem, and retina that is caused by abnormal expansion of a CAG repeat located in the ATXN7 gene encoding sequence on chromosome 3p21.1. Although SCA7 is an uncommon autosomal dominant ataxia, we previously found increased prevalence of the disease in a Southeastern Mexican population. In this study, we described to our knowledge for the first time a marriage of consanguineous SCA7 mutation carriers and their offspring effect. We characterized a severely affected infantile-onset female patient whose parents and two siblings exhibited no symptoms of the disease at time of diagnosis. A comprehensive clinical analysis of the proband showed a progressive cerebellar syndrome, including gait ataxia, movement disorders, and saccadic movements, as well as hyperreflexia, visual deterioration, urinary and cardiovascular dysfunction, and impaired nerve conduction. The SCA7 mutation was detected in the proband patient. Subsequently, genetic examination using four ATXN7 gene-linked markers (three centromeric microsatellite markers [D3S1228, D3S1287, and D3S3635] and an intragenic Single Nucleotide Polymorphism [SNP-3145G/A]) revealed that the proband descends from a couple of consanguineous SCA7 mutation carriers. Genotyping analysis demonstrated that all offspring inherited only one mutant allele, and that the severe infantile-onset phenotype is caused by germinal expansion (from 37 to 72 CAG repeats) of the paternal mutant allele. Interestingly, the couple also referred a miscarriage. Finally, we found no CAA interruptions in the ATXN7 gene CAG repeats tract in this family, which might explain, at least in part, the triplet instability in the proband. PMID:25664129

Fanconi anaemia: genetics, molecular biology, and cancer – implications for clinical management in children and adults.

PubMed

Schneider, M; Chandler, K; Tischkowitz, M; Meyer, S

2015-07-01

Fanconi anaemia (FA) is an inherited disease with congenital and developmental abnormalities, cross-linker hypersensitivity and extreme cancer predisposition. With better understanding of the genetic and molecular basis of the disease, and improved clinical management, FA has been transformed from a life-limiting paediatric disease to an uncommon chronic condition that needs lifelong multidisciplinary management, and a paradigm condition for the understanding of the gene-environment interaction in the aetiology of congenital anomalies, haematopoiesis and cancer development. Here we review genetic, molecular and clinical aspects of FA, and discuss current controversies and future prospects. © 2014 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

Familial psychiatric presentation of Huntington's disease.

PubMed Central

Lovestone, S; Hodgson, S; Sham, P; Differ, A M; Levy, R

1996-01-01

Symptoms of schizophrenia may be encountered in Huntington's disease (HD) but usually when the full clinical syndrome is apparent; prechoreic psychosis is relatively uncommon. We describe a family where all four members affected with HD presented first with a severe psychiatric syndrome, which in three cases was schizophreniform in nature. Two other living members with no current signs of motor disorder have received psychiatric treatment, one for schizophrenia. Concurrence of psychosis and Huntington's disease in this family is unlikely to have occurred by chance, suggesting that there is some feature in this family which gives rise to the psychotic presentation. Families such as this may contribute to the investigation of genetic factors associated with psychiatric illnesses. Images PMID:8929949

Cutaneous lupus erythematosus, morphea profunda and psoriasis: A case report.

PubMed

García-Arpa, Mónica; Flores-Terry, Miguel A; Ramos-Rodríguez, Claudia; Franco-Muñoz, Monserrat; González-Ruiz, Lucía; Ramírez-Huaranga, Marco Aurelio

2018-04-03

Psoriasis is a common inflammatory dermatosis that may be associated with a number of diseases. Recent studies provide evidence that there is a greater frequency of autoimmune diseases, but association with autoimmune connective tissue diseases is uncommon. The coexistence of psoriasis and lupus erythematosus is rare. Besides, the occurrence of morphea has rarely been reported in patients with lupus or psoriasis. We report a woman with cutaneous lupus and morphea profunda associated with psoriasis, with an excellent response to methotrexate, and review the literature. Copyright © 2018 Elsevier España, S.L.U. and Sociedad Española de Reumatología y Colegio Mexicano de Reumatología. All rights reserved.

Expanding the Phenotypic and Genotypic Landscape of Autoimmune Polyendocrine Syndrome Type 1.

PubMed

Orlova, Elizaveta M; Sozaeva, Leila S; Kareva, Maria A; Oftedal, Bergithe E; Wolff, Anette S B; Breivik, Lars; Zakharova, Ekaterina Y; Ivanova, Olga N; Kämpe, Olle; Dedov, Ivan I; Knappskog, Per M; Peterkova, Valentina A; Husebye, Eystein S

2017-09-01

Autoimmune polyendocrine syndrome type 1 (APS-1) is a rare monogenic autoimmune disease caused by mutations in the autoimmune regulator (AIRE) gene and characterized by chronic mucocutaneous candidiasis, hypoparathyroidism, and primary adrenal insufficiency. Comprehensive characterizations of large patient cohorts are rare. To perform an extensive clinical, immunological, and genetic characterization of a large nationwide Russian APS-1 cohort. Clinical components were mapped by systematic investigations, sera were screened for autoantibodies associated with APS-1, and AIRE mutations were characterized by Sanger sequencing. We identified 112 patients with APS-1, which is, to the best of our knowledge, the largest cohort described to date. Careful phenotyping revealed several additional and uncommon phenotypes such as cerebellar ataxia with pseudotumor, ptosis, and retinitis pigmentosa. Neutralizing autoantibodies to interferon-ω were found in all patients except for one. The major Finnish mutation c.769C>T (p.R257*) was the most frequent and was present in 72% of the alleles. Altogether, 19 different mutations were found, of which 9 were unknown: c.38T>C (p.L13P), c.173C>T (p.A58V), c.280C>T (p.Q94*), c.554C>G (p.S185*), c.661A>T (p.K221*), c.821del (p.Gly274Afs*104), c.1195G>C (p.A399P), c.1302C>A (p.C434*), and c.1497del (p.A500Pfs*21). The spectrum of phenotypes and AIRE mutation in APS-1 has been expanded. The Finnish major mutation is the most common mutation in Russia and is almost as common as in Finland. Assay of interferon antibodies is a robust screening tool for APS-1. Copyright © 2017 Endocrine Society

[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.

Common and uncommon pathogenic cascades in lysosomal storage diseases.

PubMed

Vitner, Einat B; Platt, Frances M; Futerman, Anthony H

2010-07-02

Lysosomal storage diseases (LSDs), of which about 50 are known, are caused by the defective activity of lysosomal proteins, resulting in accumulation of unmetabolized substrates. As a result, a variety of pathogenic cascades are activated such as altered calcium homeostasis, oxidative stress, inflammation, altered lipid trafficking, autophagy, endoplasmic reticulum stress, and autoimmune responses. Some of these pathways are common to many LSDs, whereas others are only altered in a subset of LSDs. We now review how these cascades impact upon LSD pathology and suggest how intervention in the pathways may lead to novel therapeutic approaches.

Radiologic and histopathologic review of rare benign and malignant breast diseases

PubMed Central

Dağıstan, Emine; Kızıldağ, Betül; Gürel, Safiye; Barut, Yüksel; Paşaoğlu, Esra

2017-01-01

High social awareness of breast diseases and the rise in breast imaging facilities have led to an increase in the detection of even rare benign and malignant breast lesions. Breast lesions are associated with a broad spectrum of imaging characteristics, and each radiologic imaging technique reflects different characteristics of them. We aimed to increase familiarity of the radiologist with these uncommon lesions as well as correlate histopathologic findings with the radiologic imaging features of the tumors. Histopathologic examination is necessary in the evaluation of such breast lesions, particularly when radiologic images are not definitive for a specific diagnosis. PMID:28508760

Pancreatitis in the Setting of Vaso-occlusive Sickle Cell Crisis: A Rare Encounter.

PubMed

Hasan, Badar; Asif, Talal; Braun, Cody; Bahaj, Waled; Dosokey, Eslam; Pauly, Rebecca R

2017-04-25

Acute pancreatitis is a common cause of acute abdominal pain. Gallstones and alcohol abuse account for the majority of the cases. Pancreatic ischemia is an uncommon but established cause of pancreatitis associated with connective tissue diseases, vasculitis, and shock. Our case highlights a rare case of vaso-occlusive crisis (VOC) in a patient with sickle cell (SC) disease leading to pancreatitis. Treatment remains largely conservative but exchange transfusion may be the therapy of choice in severely hypoxic patients or in patients with high pre-treatment hemoglobin S levels.

Naloxone-induced seizures in rats infected with Borna disease virus.

PubMed

Solbrig, M V; Koob, G F; Lipkin, W I

1996-04-01

The opioid antagonist naloxone is widely used in the emergency treatment of nontraumatic coma. Although it is uncommon for serious side effects to result from administration of opiate antagonists, we report that naloxone can have epileptogenic effects in the context of encephalitis. In an experimental model of viral encephalitis, rats infected with Borna disease virus developed myoclonic, generalized clonic, or atonic seizures; behavior arrest; and staring spells when treated with naloxone. These findings suggest a novel neuropharmacologic link, through opioid peptide systems, between epilepsy and encephalitis and disclose a potential contraindication to use of opioid antagonists in nontraumatic coma.

Idiopathic granulomatous mastitis: a case report of breast abscess.

PubMed

Olsen, Molly L; Dilaveri, Christina A

2011-08-04

Idiopathic granulomatous mastitis (IGM) is an uncommon breast disease often mistaken for breast infection or abscess. We present a case of IGM diagnosed after prolonged ineffective treatment of presumed infectious mastitis with abscess. Once the diagnosis was made with biopsy and further evaluation to exclude other causes of granulomatous disease, sinus tract debridement and closure by secondary intent resulted in resolution of symptoms in our patient. Many cases of IGM require immunosuppression with steroids, methotrexate or extensive surgery. To prevent morbidity, IGM should be considered in the differential diagnosis when presumed infectious mastitis with breast abscess does not respond to usual treatment.

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. This work is available in Open Access model and licensed under a CC BY-NC 3.0 PL license.

T-cell involvement in drug-induced acute generalized exanthematous pustulosis

PubMed Central

Britschgi, Markus; Steiner, Urs C.; Schmid, Simone; Depta, Jan P.H.; Senti, Gabriela; Bircher, Andreas; Burkhart, Christoph; Yawalkar, Nikhil; Pichler, Werner J.

2001-01-01

Acute generalized exanthematous pustulosis (AGEP) is an uncommon eruption most often provoked by drugs, by acute infections with enteroviruses, or by mercury. It is characterized by acute, extensive formation of nonfollicular sterile pustules on erythematous background, fever, and peripheral blood leukocytosis. We present clinical and immunological data on four patients with this disease, which is caused by different drugs. An involvement of T cells could be implied by positive skin patch tests and lymphocyte transformation tests. Immunohistochemistry revealed a massive cell infiltrate consisting of neutrophils in pustules and T cells in the dermis and epidermis. Expression of the potent neutrophil-attracting chemokine IL-8 was elevated in keratinocytes and infiltrating mononuclear cells. Drug-specific T cells were generated from the blood and skin of three patients, and phenotypic characterization showed a heterogeneous distribution of CD4/CD8 phenotype and of T-cell receptor Vβ-expression. Analysis of cytokine/chemokine profiles revealed that IL-8 is produced significantly more by drug-specific T cells from patients with AGEP compared with drug-specific T cells from patients that had non-AGEP exanthemas. In conclusion, our data demonstrate the involvement of drug-specific T cells in the pathomechanism of this rather rare and peculiar form of drug allergy. In addition, they indicate that even in some neutrophil-rich inflammatory responses specific T cells are engaged and might orchestrate the immune reaction. PMID:11390425

Molecular modeling and description of a newly characterized activating mutation of the EGFR gene in non-small cell lung cancer.

PubMed

Otto, Claudia; Csanadi, Agnes; Fisch, Paul; Werner, Martin; Kayser, Gian

2012-10-22

Lung cancer is the leading cause of death among malignant diseases in humans worldwide. In the last decade development of new targeted drugs for the treatment of non-small cell lung cancer proved to be a promising approach to prolong the otherwise very poor prognosis of patients with advanced UICC stages. Epidermal growth factor receptor (EGFR) has been in the focus of this lung cancer science and specific activating mutations are eligible for the treatment with specific tyrosine kinase inhibitors like gefitinib or erlotinib. Beside typical deletions in exon 19 and point mutations in exons 18 and 21 several insertions in exon 19 have been described and attributed activating properties as well. This is the first European and overall the 5th description in English literature of one of these specific insertions. To elucidate its structural changes leading to the activating properties we performed molecular modeling studies. These revealed conformational and electrostatic force field changes in the kinase domain of EGFR. To not miss uncommon mutations thorough and precise characterization of EGFR hotspots, i. e. at least exons 18, 19 and 21, should therefore be conducted to provide best medical care and to offer lung cancer patients appropriate cancer treatment. The vistual slides for this article can be found here: http://www.diagnosticpathology.diagnomx.eu/vs/2209889658102062.

An interspecific barberry hybrid enables genetic dissection of non-host resistance to the stem rust pathogen Puccinia graminis.

PubMed

Bartaula, Radhika; Melo, Arthur T O; Connolly, Bryan A; Jin, Yue; Hale, Iago

2018-04-27

Stem rust, caused by Puccinia graminis (Pg), remains a devastating disease of wheat, and the emergence of new Pg races virulent on deployed resistance genes fuels the ongoing search for sources of durable resistance. Despite its intrinsic durability, non-host resistance (NHR) is largely unexplored as a protection strategy against Pg, partly due to the inherent challenge of developing a genetically tractable system within which NHR segregates. Here, we demonstrate that Pg's far less studied ancestral host, barberry (Berberis spp.), provides such a unique pathosystem. Characterization of a natural population of B. ×ottawensis, an interspecific hybrid of Pg-susceptible B. vulgaris and Pg-resistant B. thunbergii (Bt), reveals that this uncommon nothospecies can be used to dissect the genetic mechanism(s) of Pg-NHR exhibited by Bt. Artificial inoculation of a natural population of B. ×ottawensis accessions, verified via genotyping by sequencing to be first-generation hybrids, revealed 51% susceptible, 33% resistant, and 16% intermediate phenotypes. Characterization of a B. ×ottawensis full sib family excluded the possibility of maternal inheritance of the resistance. By demonstrating segregation of Pg-NHR in a hybrid population, this study challenges the assumed irrelevance of Bt to Pg epidemiology and lays a novel foundation for the genetic dissection of NHR to one of agriculture's most studied pathogens.

Mental Representation of Fractions: It All Depends on Whether They Are Common or Uncommon.

PubMed

Liu, Fuchang

2017-08-13

This study examined whether common and uncommon fractions are mentally represented differently and whether common ones are used in accessing the magnitudes of uncommon ones. In Experiments 1 and 2, college education majors, most of whom were female, Caucasian, and in their early 20s, made comparisons involving common and uncommon fractions. In Experiment 3, participants were presented with comparison tasks involving uncommon fractions and asked to describe the strategies which they used in making such comparisons. Analysis of reaction times and error rates support the hypothesis that for common fractions, it is their holistic real value, rather than their individual components, that gets represented. For uncommon fractions, the access of their magnitudes is a process of retrieving and using a known common one having a similar value. Such results suggest that the development of the cognizance of the magnitudes of fractions may be principally a matter of common ones only and that learners' handling of uncommon fractions may be greatly facilitated through instructions on matching them with common ones having a similar value.

Erdheim-Chester disease: an uncommon cause of upper urinary tract obstruction.

PubMed

Tsu, J H L; Yuen, S K; Cheung, H; Lee, Y W; Liu, P L

2013-10-01

Erdheim-Chester disease is a rare non-Langerhans form of systemic histiocytosis of unknown origin. We describe a 45-year-old man presenting with bilateral hydronephrosis suggestive of extrinsic urinary tract obstruction. Computed tomography revealed extensive hypodense soft tissue infiltration in the retroperitoneum surrounding the kidneys. Needle biopsy of the retroperitoneal soft tissue revealed aggregates of lipid-laden histiocytes expressing CD68 but negative for CD1a and S100 protein. The diagnosis of Erdheim-Chester disease was supported by typical radionuclide bone scinitigraphic findings. Treatment with prednisolone, sirolimus, and regular ureteric stent revision was initiated to achieve adequate urinary tract drainage. To our knowledge, this is the second patient with Erdheim-Chester disease reported in Hong Kong. A high index of suspicion is required to avoid delay in the diagnosis of this rare disease.

Changes in Bacteria Induce Inflammatory Skin Diseases | Center for Cancer Research

Cancer.gov

Atopic dermatitis (AD) is a chronic inflammatory skin disease that manifests as dry skin with a relentless itch and eczema. AD is considered an allergic disease in which the skin inflammation manifests in response to chronic exposure to contact allergens. However, identification of a responsible allergen is uncommon. Meanwhile, analyses have demonstrated that the surface of the human body is colonized by large numbers of diverse bacteria. This observation has led researchers to examine the roles these bacteria play in healthy and diseased skin. In a variety of genetic and chronic inflammatory skin diseases, including in patients with AD or with cancer who receive epidermal growth factor receptor (EGFR) inhibitors, Staphylococcus aureus and Corynebacterium species are the predominant bacteria isolated from the skin. However, the cause-and-effect relationship between this microbial imbalance and skin inflammation has not been determined.

Nipple adenoma in a 2-year-old boy.

PubMed

Fujisawa, Kou; Kato, Motoi; Kono, Tatsuki; Utsunomiya, Hiroki; Watanabe, Azusa; Watanabe, Shoji

2018-05-01

Nipple adenoma is an uncommon proliferative process of the breast and predominantly occurs in women aged 40-50. Its incidence is extremely low in men, and it has not been reported in a boy. Although nipple adenoma is rare and benign, being familiar with it is important because it clinically resembles Paget disease and histologically adenocarcinoma. We report a case of nipple adenoma in a boy. © 2018 Wiley Periodicals, Inc.

Successful treatment of a necrotizing fasciitis patient caused by Mucor indicus with amphotericin B and skin grafting.

PubMed

Luo, Yijin; Zeng, Fanqin; Huang, Xiaowen; Li, Qun; Tan, Guozhen; Xi, Liyan; Lu, Changming; Guo, Qing

2014-04-01

Cutaneous mucormycosis, an uncommon disease caused by Mucorales, predominantly occurs in immunocompromised host. The present case is a primary cutaneous mucormycosis due to Mucor indicus in an immunocompetent individual. It is with the features of necrotizing fasciitis over the right pretibial area. We are presenting this case owing to its rarity and the successful treatment with amphotericin B and skin grafting.

Septicemia caused by Vibrio parahemolyticus: a case report.

PubMed

Hsu, G J; Young, T; Peng, M Y; Chang, F Y; Chou, M Y

1993-11-01

Vibrio parahemolyticus is a halophilic marine vibrio commonly associated with outbreaks of acute gastroenteritis which also sometimes causes serious wound infection. It is an uncommon cause of septicemia. A few reports suggest that patients with chronic liver disease and leukemia are more susceptible. A case of liver cirrhosis with septicemia caused by this organism is discussed. The patient's condition rapidly deteriorated, and he died 12 hours after admission.

Syndrome of the anterior spinal artery as the primary manifestation of aspergillosis.

PubMed

Pfausler, B; Kampfl, A; Berek, K; Maier, H; Aichner, F; Schmutzhard, E

1995-01-01

Aspergillosis of the central nervous system (CNS) is an uncommon infection, mainly occurring in immunocompromised patients. Beside cerebral involvement spinal cord lesions are extremely rare. To our knowledge, aspergillosis initially presenting with acute paraplegia due to mycotic thrombosis of the anterior spinal artery in a formerly healthy patient has, so far, not been reported. Neither a primary focus nor an underlying disease had been detected.

[A 35-year-old man with gynaecomastia as the first symptom of hyperthyroidism].

PubMed

Mullens, A; van den Bruel, A; Vanderschueren, D

2002-02-02

A 35-year-old man suffered painful bilateral gynaecomastia for 2 months due to serious Graves' hyperthyroidism. During treatment with propylthiouracil and levothyroxine, the plasma concentrations of thyroid hormone, sex hormones and sex hormone-binding globulin normalised and the gynaecomastia disappeared. Gynaecomastia occurs in 30 to 40% of men diagnosed with Graves' hyperthyroidism. However, gynaecomastia as a presenting symptom of this autoimmune disease is uncommon.

Clinical overview of hypertensive crisis in children.

PubMed

Yang, Wen-Chieh; Lin, Mao-Jen; Chen, Chun-Yu; Wu, Han-Ping

2015-06-16

Hypertensive emergencies and hypertensive urgencies in children are uncommonly encountered in the pediatric emergency department and intensive care units, but the diseases are potentially a life-threatening medical emergency. In comparison with adults, hypertension in children is mostly asymptomatic and most have no history of hypertension. Additionally, measuring accurate blood pressure values in younger children is not easy. This article reviews current concepts in pediatric patients with severe hypertension.

Clinical overview of hypertensive crisis in children

PubMed Central

Yang, Wen-Chieh; Lin, Mao-Jen; Chen, Chun-Yu; Wu, Han-Ping

2015-01-01

Hypertensive emergencies and hypertensive urgencies in children are uncommonly encountered in the pediatric emergency department and intensive care units, but the diseases are potentially a life-threatening medical emergency. In comparison with adults, hypertension in children is mostly asymptomatic and most have no history of hypertension. Additionally, measuring accurate blood pressure values in younger children is not easy. This article reviews current concepts in pediatric patients with severe hypertension. PMID:26090371

Graves' disease presenting as bi-ventricular heart failure with severe pulmonary hypertension and pre-eclampsia in pregnancy--a case report and review of the literature.

PubMed

Sabah, Khandker Mohammad Nurus; Chowdhury, Abdul Wadud; Islam, Mohammad Shahidul; Cader, Fathima Aaysha; Kawser, Shamima; Hosen, Md Imam; Saleh, Mohammed Abaye Deen; Alam, Md Shariful; Chowdhury, Mohammad Monjurul Kader; Tabassum, Humayara

2014-11-18

Graves' disease, a well-known cause of hyperthyroidism, is an autoimmune disease with multi-system involvement. More prevalent among young women, it appears as an uncommon cardiovascular complication during pregnancy, posing a diagnostic challenge, largely owing to difficulty in detecting the complication, as a result of a low index of suspicion of Graves' disease presenting during pregnancy. Globally, cardiovascular disease is an important factor for pregnancy-related morbidity and mortality. Here, we report a case of Graves' disease detected for the first time in pregnancy, in a patient presenting with bi- ventricular heart failure, severe pulmonary hypertension and pre- eclampsia. Emphasis is placed on the spectrum of clinical presentations of Graves' disease, and the importance of considering this thyroid disorder as a possible aetiological factor for such a presentation in pregnancy. A 30-year-old Bangladeshi-Bengali woman, in her 28th week of pregnancy presented with severe systemic hypertension, bi-ventricular heart failure and severe pulmonary hypertension with a moderately enlarged thyroid gland. She improved following the administration of high dose intravenous diuretics, and delivered a premature female baby of low birth weight per vaginally, twenty four hours later. Pre-eclampsia was diagnosed on the basis of hypertension first detected in the third trimester, 3+ oedema and mild proteinuria. Electrocardiography revealed sinus tachycardia with incomplete right bundle branch block and echocardiography showed severe pulmonary hypertension with an estimated pulmonary arterial systolic pressure of 73 mm Hg, septal and anterior wall hypokinesia with an ejection fraction of 51%, grade I mitral and tricuspid regurgitation. Thyroid function tests revealed a biochemically hyperthyroid state and positive anti- thyroid peroxidase antibodies was found. (99m)Technetium pertechnetate thyroid scans demonstrated diffuse toxic goiter as evidenced by an enlarged thyroid gland with intense radiotracer concentration all over the gland. The clinical and biochemical findings confirmed the diagnosis of Graves' disease. Graves' disease is an uncommon cause of bi-ventricular heart failure and severe pulmonary hypertension in pregnancy, and a high index of clinical suspicion is paramount to its effective diagnosis and treatment.

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

PubMed

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

2010-06-25

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

Saudi Guidelines on the Diagnosis and Treatment of Pulmonary Hypertension: Pulmonary hypertension in children

PubMed Central

Al Dabbagh, Maha; Banjar, Hanna; Galal, Nasser; Kouatli, Amjad; Kandil, Hammam; Chehab, May

2014-01-01

Pulmonary hypertension (PH) is relatively uncommon in children. Pulmonary arterial hypertension (PAH) in pediatric comprises a wide spectrum of diseases, from a transient neonatal condition to a progressive disease associated with morbidity and mortality. Most common PAH in pediatric are idiopathic (IPAH) or PAH associated with congenital heart disease (PAH-CHD), while other associated conditions, such as connective tissue disease (CTD), are less common in pediatrics. Despite better understanding of PH and the availability of new medications during recent decades; the diagnosis, investigation and choice of therapy remain a challenge in children, as evidence-based recommendations depend mainly on adult studies. In this review, we provide a detailed discussion about the distinctive features of PAH in pediatric, mainly emphacysing on classification and diagnostic algorithm. PMID:25076989

Technique of Dynamic Flexor Digitorum Superficialis Transfer to Lateral Bands for Proximal Interphalangeal Joint Deformity Correction in Severe Dupuytren Disease.

PubMed

Schreck, Michael J; Holbrook, Hayden S; Koman, L Andrew

2018-02-01

Pseudo-boutonniere deformity is an uncommon complication from long-standing proximal interphalangeal (PIP) joint contracture in Dupuytren disease. Prolonged flexion contracture of the PIP joint can lead to central slip attenuation and resultant imbalances in the extensor mechanism. We present a technique of flexor digitorum superficialis (FDS) tendon transfer to the lateral bands to correct pseudo-boutonniere deformity at the time of palmar fasciectomy for the treatment of Dupuytren disease. The FDS tendon is transferred from volar to dorsal through the lumbrical canal and sutured into the dorsally mobilized lateral bands. This technique presents an approach to the repair of pseudo-boutonniere deformity in Dupuytren disease. Copyright © 2018 American Society for Surgery of the Hand. Published by Elsevier Inc. All rights reserved.

[Acute toxoplasmosis in coexistent non-Hodgkin lymphoma].

PubMed

Welge-Lüssen, A; Hauser, R

1999-06-01

There are many reasons for cervical lymph node enlargement. In particular, the large group of infectious diseases must be considered along with malignant diseases. The coexistence of an uncommon infectious disease with malignant disease is a rare event. We report the case of an otherwise healthy 69-year-old man with marked enlargement of his cervical lymph nodes. A diagnosis of a recent toxoplasmosis infection was made based on positive IgG and IgM toxoplasma titers and the results of fine-needle aspiration from a lymph node. Since the enlarged lymph nodes persisted for more than weeks, the lymph node was excised. Histological examination revealed a non-Hodgkin's lymphoma. IgM titers in toxoplasmosis can persist up to 1 year. In cases with rare infectious diseases like toxoplasmosis in immunocompromised patients, swollen lymph nodes that persist or grow should lead to the suspicion of additional disease. A diagnosis can be confirmed by removing a lymph node for histology.

[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.

Emerging treatments for primary sclerosing cholangitis.

PubMed

Rodriguez, Eduardo A; Carey, Elizabeth J; Lindor, Keith D

2017-05-01

Primary sclerosing cholangitis (PSC) is a chronic, cholestatic, idiopathic liver disease that can progress to end-stage liver disease, cirrhosis and cholangiocarcinoma. PSC is an uncommon and highly heterogeneous disease, associated with inflammatory bowel disease and a complex pathophysiology. To date, no medical therapies have proved effective. The only available treatment for end-stage PSC is liver transplant, but recurrence is a significant complication. Areas covered: This review will explore previously tested treatments, discuss current treatment strategies and present viewpoints about future emerging therapies in PSC. We searched PubMed using the noted keywords. We included data from full-text articles published in English. Further relevant articles were identified from the reference lists of review articles. Expert commentary: The development of new therapies in PSC has been challenging. However, with greater awareness of the disease nowadays, new insights into the disease may help in the design of future therapeutic agents in PSC and ultimately in effective therapies.

Recurrent intracranial Rosai-Dorfman disease: Management of a challenging case.

PubMed

Das, Sudeep; Biswas, Ahitagni; Roy, Soumyajit; Sable, Mukund N; Singh, Daljit; Jana, Manisha; Sharma, Mehar Chand; Julka, Pramod Kumar

2017-01-01

Rosai-Dorfman disease (RDD) is a rare, idiopathic, benign histioproliferative disorder. Extranodal involvement is seen in around 25-40% of patients. Central nervous system manifestation of RDD is uncommon and suprasellar location of the lesion is a distinct rarity. Surgery is the cornerstone of management of intracranial RDD. However, tumor recurrence or regrowth is a potential problem. Hence, low dose conformal radiotherapy (RT) should be considered in patients undergoing sub-total resection or having unresectable recurrent disease. Though cranial RT usually leads to satisfactory improvement of symptoms and long-term disease stabilization or regression, in few patients there may be an eventual progression of disease for which systemic chemotherapy may be considered. We have highlighted the salient features of this enigmatic disease by citing a case of a 50-year-old male patient with suprasellar RDD treated by maximal safe surgery and deferred radiation therapy on progression.

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

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

PubMed

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

2016-12-01

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

Computational Analysis of Epidermal Growth Factor Receptor Mutations Predicts Differential Drug Sensitivity Profiles toward Kinase Inhibitors.

PubMed

Akula, Sravani; Kamasani, Swapna; Sivan, Sree Kanth; Manga, Vijjulatha; Vudem, Dashavantha Reddy; Kancha, Rama Krishna

2018-05-01

A significant proportion of patients with lung cancer carry mutations in the EGFR kinase domain. The presence of a deletion mutation in exon 19 or L858R point mutation in the EGFR kinase domain has been shown to cause enhanced efficacy of inhibitor treatment in patients with NSCLC. Several less frequent (uncommon) mutations in the EGFR kinase domain with potential implications in treatment response have also been reported. The role of a limited number of uncommon mutations in drug sensitivity was experimentally verified. However, a huge number of these mutations remain uncharacterized for inhibitor sensitivity or resistance. A large-scale computational analysis of clinically reported 298 point mutants of EGFR kinase domain has been performed, and drug sensitivity profiles for each mutant toward seven kinase inhibitors has been determined by molecular docking. In addition, the relative inhibitor binding affinity toward each drug as compared with that of adenosine triphosphate was calculated for each mutant. The inhibitor sensitivity profiles predicted in this study for a set of previously characterized mutants correlated well with the published clinical, experimental, and computational data. Both the single and compound mutations displayed differential inhibitor sensitivity toward first- and next-generation kinase inhibitors. The present study provides predicted drug sensitivity profiles for a large panel of uncommon EGFR mutations toward multiple inhibitors, which may help clinicians in deciding mutant-specific treatment strategies. Copyright © 2018 International Association for the Study of Lung Cancer. Published by Elsevier Inc. All rights reserved.

What we need to know about the effect of lithium on the kidney.

PubMed

Gong, Rujun; Wang, Pei; Dworkin, Lance

2016-12-01

Lithium has been a valuable treatment for bipolar affective disorders for decades. Clinical use of lithium, however, has been problematic due to its narrow therapeutic index and concerns for its toxicity in various organ systems. Renal side effects associated with lithium include polyuria, nephrogenic diabetes insipidus, proteinuria, distal renal tubular acidosis, and reduction in glomerular filtration rate. Histologically, chronic lithium nephrotoxicity is characterized by interstitial nephritis with microcyst formation and occasional focal segmental glomerulosclerosis. Nevertheless, this type of toxicity is uncommon, with the strongest risk factors being high serum levels of lithium and longer time on lithium therapy. In contrast, in experimental models of acute kidney injury and glomerular disease, lithium has antiproteinuric, kidney protective, and reparative effects. This paradox may be partially explained by lower lithium doses and short duration of therapy. While long-term exposure to higher psychiatric doses of lithium may be nephrotoxic, short-term low dose of lithium may be beneficial and ameliorate kidney and podocyte injury. Mechanistically, lithium targets glycogen synthase kinase-3β, a ubiquitously expressed serine/threonine protein kinase implicated in the processes of tissue injury, repair, and regeneration in multiple organ systems, including the kidney. Future studies are warranted to discover the exact "kidney-protective dose" of lithium and test the effects of low-dose lithium on acute and chronic kidney disease in humans. Copyright © 2016 the American Physiological Society.

Eosinophilic gastroenteritis: A state-of-the-art review.

PubMed

Zhang, MingMing; Li, YanQing

2017-01-01

Eosinophilic gastrointestinal disorders are a series of diseases that include eosinophilic esophagitis, eosinophilic gastritis, eosinophilic gastroenteritis, eosinophilic enteritis, and eosinophilic colitis. Among these disorders, eosinophilic gastroenteritis is an uncommon and heterogeneous disease characterized by eosinophilic infiltration of the gastrointestinal tract in the absence of secondary causes, presenting with a variety of gastrointestinal manifestations. Up to now, epidemiology and pathophysiology of eosinophilic gastroenteritis are still unclear. Based on clinical manifestations and depth of eosinophilic infiltration into the gastrointestinal tract wall, eosinophilic gastroenteritis is classified into three different patterns including predominantly mucosal pattern, predominantly muscular pattern, and predominantly serosal pattern. For diagnosing eosinophilic gastroenteritis, it is necessary for clinicians to have a high degree of clinical suspicion. In addition to the gastrointestinal symptoms, other evidences such as laboratory results, radiological findings and endoscopy can also provide important diagnostic evidences for eosinophilic gastroenteritis. And these indirect pieces of information together with histological results will lead to a definitive diagnosis of eosinophilic gastroenteritis. To avoid specific allergen, dietary treatments can be considered as initial treatment strategy before drug treatment. Corticosteroids are the main medication for eosinophilic gastroenteritis and have a dramatic therapeutic efficacy. Yet other medications need to further verify their effects in clinical practice, and surgery should be avoided as far as possible. © 2016 Journal of Gastroenterology and Hepatology Foundation and John Wiley & Sons Australia, Ltd.

What we need to know about the effect of lithium on the kidney

PubMed Central

Gong, Rujun; Wang, Pei

2016-01-01

Lithium has been a valuable treatment for bipolar affective disorders for decades. Clinical use of lithium, however, has been problematic due to its narrow therapeutic index and concerns for its toxicity in various organ systems. Renal side effects associated with lithium include polyuria, nephrogenic diabetes insipidus, proteinuria, distal renal tubular acidosis, and reduction in glomerular filtration rate. Histologically, chronic lithium nephrotoxicity is characterized by interstitial nephritis with microcyst formation and occasional focal segmental glomerulosclerosis. Nevertheless, this type of toxicity is uncommon, with the strongest risk factors being high serum levels of lithium and longer time on lithium therapy. In contrast, in experimental models of acute kidney injury and glomerular disease, lithium has antiproteinuric, kidney protective, and reparative effects. This paradox may be partially explained by lower lithium doses and short duration of therapy. While long-term exposure to higher psychiatric doses of lithium may be nephrotoxic, short-term low dose of lithium may be beneficial and ameliorate kidney and podocyte injury. Mechanistically, lithium targets glycogen synthase kinase-3β, a ubiquitously expressed serine/threonine protein kinase implicated in the processes of tissue injury, repair, and regeneration in multiple organ systems, including the kidney. Future studies are warranted to discover the exact “kidney-protective dose” of lithium and test the effects of low-dose lithium on acute and chronic kidney disease in humans. PMID:27122541

Deletion of 1p32-p36 is the most frequent genetic change and poor prognostic marker in adenoid cystic carcinoma of the salivary glands.

PubMed

Rao, Pulivarthi H; Roberts, Diana; Zhao, Yi-Jue; Bell, Diana; Harris, Charles P; Weber, Randal S; El-Naggar, Adel K

2008-08-15

Adenoid cystic carcinoma (ACC) is a relatively uncommon salivary gland malignancy known for its protean phenotypic features and pernicious clinical behavior. Currently, no effective therapy is available for patients with advanced nonresectable, recurrent, and/or metastatic disease. The purpose of this study is to identify prognostic factors other than tumor stage that can be used to predict the outcome of the patients with ACC. We used comparative genomic hybridization (CGH) to identify copy number aberrations in 53 primary ACCs. Array CGH and fluorescence in situ hybridization analysis was used to validate CGH results on selected cases. We correlated these copy number aberrations with clinicopathologic factors using Pearson's chi2 or by the two-tailed Fisher exact test. The disease-specific survival and disease-free intervals were generated by the Kaplan-Meier product limit method. Chromosomal losses (n = 134) were more frequent than gains (n = 74). The most frequent genetic change was the loss of 1p32-p36 in 44% of the cases followed by 6q23-q27, and 12q12-q14. The most frequently gained chromosomal regions were 8 and 18. Of the chromosomal aberrations, loss of 1p32-p36 was the only abnormality significantly associated with patient's outcome. This study, for the first time, identifies loss of 1p32-p36 as a significant aberration in ACC. Molecular characterization of 1p32-36 region using the available genomic technologies may lead to the identification of new genes critical to the development of novel therapeutic targets for this disease copy number aberration.

Pregnancy-associated retinal diseases and their management.

PubMed

Errera, Marie-Hélène; Kohly, Radha P; da Cruz, Lyndon

2013-01-01

Pregnancy-associated retinal diseases are conditions that may occur uniquely in pregnancy or, more commonly, general conditions that may worsen or alter during pregnancy as a result of hematologic, hormonal, metabolic, cardiovascular, and immunologic changes. Diabetic retinopathy (DR) is by far the most common retinal condition that is altered by pregnancy. However, there are currently no widely accepted, precise clinical guidelines regarding its management during pregnancy. At present it is not possible to predict who will regress and who will progress without treatment. Some of the variation in progression of DR in pregnancy may be a result of well-known risk factors such as hypertension or inadequate glycemic control prior to pregnancy. Other pregnancy-associated retinal diseases are relatively uncommon, and their treatments are poorly characterized. Pre-existing conditions include the white dot syndromes, such as punctuate inner choroidopathy and ocular histoplasmosis syndrome, as well as chorioretinal neovascularization from many other etiologies. Retinal and chorioretinal disorders that can arise during pregnancy include central serous chorioretinopathy and occlusive vasculopathy such as retinal artery occlusion (Purtschers-like retinopathy) and retinal vein occlusion. There remains a small group that appear to be unique to pregnancy, with pre-eclampsia- and eclampsia-associated retinopathy, disseminated intravascular coagulopathy, or amniotic fluid embolism being the best described. In angiogenic retinal diseases outside of pregnancy, the use of anti-vascular endothelial growth factor (anti-VEGF agents) has proven helpful. There are no safety data about the use of anti-VEGF agents during pregnancy, and conventionally the proposed interventions have been laser photocoagulation and systemic or intravitreal injections of steroids. Most of the literature on the treatment of pregnancy associated-chorioretinal neovascularization is anecdotal. Copyright © 2013 Elsevier Inc. All rights reserved.

Evaluation of liver function tests in scleroderma patients.

PubMed

Salem, Gehan Ibrahim Abdelrazek; Abdulrahman, Awni Ali

2012-08-01

Systemic sclerosis is a clinically heterogeneous, systemic disorder which affects the connective tissue of the skin, internal organs, and the walls of blood vessels. It is characterized by alterations of the microvasculature, disturbances of the immune system and by massive deposition of collagen and other matrix substances in the connective tissue. This study was done to evaluate the frequency of liver disease in patients with scleroderma and, secondarily, to study the frequency of infection of hepatitis B and C virus in these patients and determine frequency of serum auto-antibodies in this disease. We studied patients with scleroderma, localized or systemic, in the outpatient clinic of rheumatology and dermatology departments, at King Khalid University Hospital. As for a comparison, healthy persons coming to the clinic with the same mean age were considered as control group. Forty patients with the diagnosis of scleroderma included in this work, 35% had elevated gamma-glutamyl-transferase (γ-GT), 30% had elevated alkaline phosphatase (AP) and in 17.5%, the alanine-amino-transferase (ALT) was above the reference values. The ALT had changed to be more in scleroderma patients than in controls. Twenty percent (20%) of the patients tested positive for anti-smooth muscle antibodies (anti-SMA) and only one patient had anti-mitochondrial antibodies (AMA). There was no statistical difference between the two groups regarding antibody testing. Anti-HCV antibodies were observed in one patient, and HBsAg was detected in another scleroderma patient. There was no patient with clinically significant hepatic disease. In this study, although changes in liver enzymes in patients with scleroderma were not uncommon, there was no scleroderma patient with clinical manifestations of liver disease.

Bordetella pertussis is an uncommon pathogen in children hospitalized with bronchiolitis during the winter season.

PubMed

Piedra, Pedro A; Mansbach, Jonathan M; Jewell, Alan M; Thakar, Sneha D; Grant, Cameron C; Sullivan, Ashley F; Espinola, Janice A; Camargo, Carlos A

2015-06-01

In the United States (U.S.), Bordetella pertussis incidence has increased. Cough and apnea are common findings in pertussis and also in bronchiolitis, the most common cause of hospitalization in U.S. infants. The objective was to determine the prevalence of B. pertussis infection in children hospitalized with bronchiolitis and to describe its clinical course. Children hospitalized with bronchiolitis and age <2 years were eligible for a prospective, multicenter cohort study during 3 consecutive winter seasons (November-March) from 2007 to 2010. Sixteen sites in 12 states participated using a standardized enrollment protocol. Families were asked the 2010 Centers for Disease Control and Prevention pertussis classification questions. Nasopharyngeal aspirates were obtained and tested by real-time polymerase chain reaction for 16 viruses, Mycoplasma pneumoniae and B. pertussis. Two thousand sixty-eight (94%) of 2207 children had 1 or more respiratory pathogens. B. pertussis was identified in 4 children [0.2%; 95% confidence interval (CI): 0.1-0.5%] with 3 having a viral co-infection. All 4 were younger than 4 months; 2 met the Centers for Disease Control and Prevention definition of probable pertussis; and 3 had received at least 1 dose of an acellular pertussis vaccine. During the hospitalization, 2 had paroxysmal cough, 1 required intensive care unit care and the median length of stay was 13 days. Our data support that B. pertussis is an uncommon pathogen in U.S. children hospitalized with bronchiolitis in the winter. Making a diagnosis of pertussis can be challenging because the disease can be atypical and may not meet the Centers for Disease Control and Prevention definition of probable infection.

Ulcerative colitis in a multiracial Asian country: Racial differences and clinical presentation among Malaysian patients

PubMed Central

Tan, Yan-Mei; Goh, Khean-Lee

2005-01-01

AIM: TO determine the prevalence of ulcerative colitis (UC) in Malaysian patients and to establish the spectrum of the disease seen in Malaysian patients. METHODS: Data were obtained retrospectively from a review of the medical records of in- and out-patients with a diagnosis of UC at the University Hospital, Kuala Lumpur between 1985 and 1998. RESULTS: There were 45 confirmed cases of UC, of which 3 were foreigners, who were excluded from analysis. Thirty new cases of UC were diagnosed during the study period. Their mean age at presentation was 33.0 ± 10.0 years. The highest prevalence of UC was 17.9/100 000 hospital admissions in the Indians, followed by 11.2/100 000 hospital admissions in the Chinese. The lowest prevalence was 3.7/100 000 hospital admissions in the Malays. The prevalence of UC was significantly higher in the Indians and the Chinese when compared with the Malays with an OR of 4.89 (CI = 2.02-12.24; c2 = 15.45,P < 0.001) and 3.06 (CI = 1.24-7.78; c2 = 6.30; P = 0.012) respectively. The extent of colonic disease was similar in the Malay and Indian patients. In contrast, distal or left-sided colitis predominated in the Chinese with an OR of 8.17 (95%CI = 1.31-64.87; c2 = 5.53, P = 0.02). Extraintestinal manifestations were uncommon (11.9%). CONCLUSION: UC is an uncommon disease in Malaysia, but racial differences exist. The Indians had the highest prevalence of UC with the Chinese demonstrating the least extensive disease. PMID:16270398

Pacemakers and implantable cardioverter-defibrillators in pediatric patients.

PubMed

Silka, Michael J; Bar-Cohen, Yaniv

2006-11-01

The use of pacemakers and implantable cardioverter-defibrillators (ICDs) in infants, children, and patients with congenital heart disease presents unique challenges and considerations. They include uncommon indications for device implantation, innovative approaches to lead implantation and configuration, and age-dependent and disease-specific aspects of device programming. In this review, the current indications for pacemaker and ICD implantation in young patients are discussed, followed by consideration of the approaches to lead and device placement in very small patients and those with complex congenital heart disease, in whom unique problems may be encountered. The limitations of programmability of current pacemakers and ICDs when used in young patients are discussed, followed by an analysis of long-term device follow-up and potential late complications.

Chorea in a patient with cryopyrin-associated periodic syndrome.

PubMed

Schwarzbach, Christopher J; Schmitt, Wilhelm H; Szabo, Kristina; Bäzner, Hansjoerg; Hennerici, Michael G; Blahak, Christian

2016-01-19

To describe a patient with cryopyrin-associated periodic syndrome (CAPS) with an uncommon neurologic phenotype and a rare underlying genetic mutation. Our patient had CAPS with a rare NLPR3 missense mutation (p.Tyr859Cys) in exon 6 with chorea as the major symptom. Clinical symptoms were associated with persistent inflammatory changes of the CSF and serum and included elevated anticardiolipin immunoglobulin G; MRI showed prolonged gadolinium enhancement of 2 chronic inflammatory lesions. Conventional immunosuppressive treatment with prednisolone and hydroxychloroquine was insufficient. Neurologic symptoms, laboratory/chemical measures, and MRI abnormalities almost completely normalized following interleukin (IL)-1β blockade with anakinra. This case is unique for its uncommon neurologic phenotype, the rare underlying genetic mutation, and the long course of the disease as well as almost complete recovery following appropriate therapy. In addition, the chronic inflammatory white matter lesions observed on brain MRI and the responsiveness to IL-1β blockade with anakinra are unusual. © 2015 American Academy of Neurology.

Recurrent exercise-induced rhabdomyolysis due to low intensity fitness exercise in a healthy young patient

PubMed Central

Karre, Premnath Reddy; Gujral, Jeetinder

2011-01-01

Rhabdomyolysis is an uncommon but life threatening condition that develops due to breakdown of muscle and release of intracellular components into the circulation. A 24-year-old man otherwise healthy was admitted to our hospital because of muscle aches and weakness as well as cola coloured urine developed 3 days after carrying out the low intensity exercise. Diagnosis of rhabdomyolysis was made with creatine kinase (CK) levels of 214 356 U/l. He was treated for a similar condition at age 21. A muscle biopsy was done and the findings were normal. Rhabdomyolysis can develop with low intensity exercise; thus, it be considered in healthy young people. Young people with recurrent rhabdomyolysis due to low intensity exercise, in the absence of obvious medical and physical causes, should be evaluated further to rule out uncommon metabolic diseases. Our case demonstrates that complications especially renal failure in patients with rhabdomyolysis do not correspond to CK levels. PMID:22700603

Recurrent exercise-induced rhabdomyolysis due to low intensity fitness exercise in a healthy young patient.

PubMed

Karre, Premnath Reddy; Gujral, Jeetinder

2011-04-01

Rhabdomyolysis is an uncommon but life threatening condition that develops due to breakdown of muscle and release of intracellular components into the circulation. A 24-year-old man otherwise healthy was admitted to our hospital because of muscle aches and weakness as well as cola coloured urine developed 3 days after carrying out the low intensity exercise. Diagnosis of rhabdomyolysis was made with creatine kinase (CK) levels of 214 356 U/l. He was treated for a similar condition at age 21. A muscle biopsy was done and the findings were normal. Rhabdomyolysis can develop with low intensity exercise; thus, it be considered in healthy young people. Young people with recurrent rhabdomyolysis due to low intensity exercise, in the absence of obvious medical and physical causes, should be evaluated further to rule out uncommon metabolic diseases. Our case demonstrates that complications especially renal failure in patients with rhabdomyolysis do not correspond to CK levels.

Zoonotic bacterial meningitis in human adults.

PubMed

van Samkar, Anusha; Brouwer, Matthijs C; van der Ende, Arie; van de Beek, Diederik

2016-09-13

To describe the epidemiology, etiology, clinical characteristics, treatment, outcome, and prevention of zoonotic bacterial meningitis in human adults. We identified 16 zoonotic bacteria causing meningitis in adults. Zoonotic bacterial meningitis is uncommon compared to bacterial meningitis caused by human pathogens, and the incidence has a strong regional distribution. Zoonotic bacterial meningitis is mainly associated with animal contact, consumption of animal products, and an immunocompromised state of the patient. In a high proportion of zoonotic bacterial meningitis cases, CSF analysis showed only a mildly elevated leukocyte count. The recommended antibiotic therapy differs per pathogen, and the overall mortality is low. Zoonotic bacterial meningitis is uncommon but is associated with specific complications. The suspicion should be raised in patients with bacterial meningitis who have recreational or professional contact with animals and in patients living in regions endemic for specific zoonotic pathogens. An immunocompromised state is associated with a worse prognosis. Identification of risk factors and underlying disease is necessary to improve treatment. © 2016 American Academy of Neurology.

Follicular lymphoma: 2014 update on diagnosis and management.

PubMed

Freedman, Arnold

2014-04-01

Follicular lymphoma is generally an indolent B cell lymphoproliferative disorder of transformed follicular center B cells. Follicular lymphoma (FL) is characterized by diffuse lymphoadenopathy, bone marrow involvement, splenomegaly, and less commonly other extranodal sites of involvement. In general cytopenias can occur but constitutional symptoms of fever, nightsweats, and weight loss are uncommon. Diagnosis is based on histology of preferably a biopsy of a lymph node. Immunohistochemical staining is positive in virtually all cases for cell surface CD19, CD20, CD10, and monoclonal immunoglobulin, as well as cytoplasmic expression of bcl-2 protein. The overwhelming majority of cases have the characteristic t(14;18) translocation involving the IgH/bcl-2 genes. The Follicular Lymphoma International Prognostic Index prognostic model for FL uses five independent predictors of inferior survival: age >60 years, hemoglobin <12 g/dL, serum LDH > normal, Ann Arbor stage III/IV, number of involved nodal areas > 4. The presence of 0, 1, 2, and  ≥ 3 adverse factors defines low, intermediate, and high-risk disease. With the use of more modern therapies, outcomes have improved. Observation continues to be adequate for asymptomatic patients with low bulk disease and no cytopenias. For patients needing therapy, most patients are treated with chemotherapy plus rituximab, which has improved response rates, duration of response and overall survival. Randomized studies have shown additional benefit for maintenance rituximab both following chemotherapy-rituximab and single agent rituximab. Experimental therapies as well as stem cell transplantation (SCT) are considered for recurrent disease. Copyright © 2014 Wiley Periodicals, Inc.

Frontal fibrosing alopecia: clinical presentations and prognosis.

PubMed

Tan, K T; Messenger, A G

2009-01-01

Frontal fibrosing alopecia is an uncommon condition characterized by progressive frontotemporal recession due to inflammatory destruction of hair follicles. Little is known about the natural history of this disease. To determine the clinical features and natural history of frontal fibrosing alopecia. We studied the cases notes of patients diagnosed with frontal fibrosing alopecia from 1993 to 2008 at the Royal Hallamshire Hospital, Sheffield. There were 18 patients aged between 34 and 71 years. Three were premenopausal. All had frontotemporal recession with scarring. This was associated with partial or complete loss of eyebrows in 15 patients while four had hair loss at other sites. One had keratosis pilaris-like papules on the face, and one had follicular erythema on the cheeks. Three patients had oral lichen planus, of whom two also had cutaneous lichen planus affecting other sites of the body. Treatments given included intralesional triamcinolone acetonide, 0.1% tacrolimus ointment and oral hydroxychloroquine. Progression of frontotemporal recession was seen in some patients, but not all. In one patient the hair line receded by 30 mm over 72 months, whereas in another patient there was no positional change in the hair line after 15 years. Frontal fibrosing alopecia is more common in postmenopausal women, but it can occur in younger women. It may be associated with mucocutaneous lichen planus. Recession of the hair line may progress inexorably over many years but this is not inevitable. It is not clear whether or not treatment alters the natural history of the disease - the disease stabilized with time in most of the patients with or without continuing treatment.

Dermatomyositis presenting with severe subcutaneous edema: five additional cases and review of the literature.

PubMed

Milisenda, José C; Doti, Pamela I; Prieto-González, Sergio; Grau, Josep M

2014-10-01

Dermatomyositis (DM) constitutes a subset of idiopathic inflammatory myopathies clinically characterized by proximal muscle weakness and skin involvement. Some of the dermatologic manifestations are highly prevalent and characteristic, but others such as generalized or limb edema are truly rare. The aim of the present study was to describe five cases of edematous DM diagnosed at our institution and to perform a review of the literature, as well as identify clinical, laboratory, or pathological data associated with this manifestation. We performed a retrospective clinical, laboratory, and pathological evaluation of five cases of this edematous presentation out of 86 DM cases diagnosed at our hospital from 2004 to 2013. Moreover, we undertook a medical literature search using inflammatory myopathy, dermatomyositis, and edema as key words, limited to articles published in MEDLINE, EMBASE, and LILACS database in English and Spanish from 1987 to 2013. A total of 19 patients were identified, five diagnosed at our hospital and 14 cases from the literature. Overall, the median time from disease onset to diagnosis was 2 months, and most of the patients (16/84 patients, 21%) required more aggressive therapy, including immunosuppressive agents and intravenous immunoglobulin (12/63 patients, 15%). Microinfarction was present 2.3 times more frequently in DM patients with edema compared with those without edema. The presence of edema in DM is uncommon but seems to be a sign of severe disease, requiring early and aggressive treatment. Microischemia-producing microinfarction may play an important pathophysiological role and determine the degree of disease severity. Copyright © 2014 Elsevier Inc. All rights reserved.

Unusual presentation of Klinefelter syndrome

PubMed Central

Das, Chanchal; Sahana, Pranab Kumar; Sengupta, Nilanjan; Roy, Mukut; Dasgupta, Ranen

2013-01-01

Introduction: Klinefelter syndrome usually presents in the puberty and adulthood with its characteristic features. We report a boy who had Klinefelter syndrome with hypospadias and hydrocele. Case Note: Six and half year old boy had complaints of genitourinary problem in the form of hypospadias, small phallus and hydrocele. Karyotyping showed 47,XXY. Conclusion: This case illustrates that Klinefelter syndrome was presented in the infancy with hypospadias and hydrocele which are very uncommon presentation of the disease PMID:24910838

Calf enlargement associated with neurologic disease: two uncommon cases.

PubMed

Harwood, S C; Honet, J C

1988-01-01

Muscle enlargement and hypertrophy are rare findings in neurogenic lesions. The two in combination have been reported in cases of peripheral nerve lesions, polyneuropathy, and poliomyelitis. True and pseudo muscle hypertrophy are the two possible etiologies, whereas infiltration, stretch, or exercise of the muscle are the causative factors. We report two cases of unilateral calf enlargement, one occurring after surgery for S1 radiculopathy with associated cramping, and the other after poliomyelitis.

Coloured sweat in two brothers: First report of familial chromhidrosis.

PubMed

Gaffney, Daniel C; Cooper, Hywel L

2016-02-01

The uncommon diagnosis of chromhidrosis is most frequently made in young adults. This sweat gland disease, although benign, may impact significantly on the patient's quality of life. We describe the first report of familial chromhidrosis of pseudo-eccrine type (pseudochromhidrosis) occurring in two brothers aged 9 and 12 years. The classification and causality of chromhidrosis is described and approaches to assessment and management are outlined. © 2015 The Australasian College of Dermatologists.

Non-Hodgkin's lymphoma of the breast presenting as breast abscess during pregnancy.

PubMed

Sultan, Naheed; Khalid, Mahvesh; Khan, Sarah Rafi; Khan, Fahadullah

2012-10-01

Primary non-Hodgkin's lymphoma of the breast is an uncommon disease. In all patients with breast lump, primary lymphoma of breast should be considered as it is one of the most easily missed pathology. We report a case of a 22 years old lactating mother who presented with the complaint of a painful swelling in the right breast, noticed during the last trimester of her pregnancy, mimicking breast abscess.

Discharges with surgical procedures performed less often than once per month per hospital account for two-thirds of hospital costs of inpatient surgery.

PubMed

O'Neill, Liam; Dexter, Franklin; Park, Sae-Hwan; Epstein, Richard H

2017-09-01

Most surgical discharges (54%) at the average hospital are for procedures performed no more often than once per month at that hospital. We hypothesized that such uncommon procedures would be associated with an even greater percentage of the total cost of performing all surgical procedures at that hospital. Observational study. State of Texas hospital discharge abstract data: 4th quarter of 2015 and 1st quarter of 2016. Inpatients discharged with a major therapeutic ("operative") procedure. For each of N=343 hospitals, counts of discharges, sums of lengths of stay (LOS), sums of diagnosis related group (DRG) case-mix weights, and sums of charges were obtained for each procedure or combination of procedures, classified by International Classification of Diseases version 10 Procedure Coding System (ICD-10-PCS). Each discharge was classified into 2 categories, uncommon versus not, defined as a procedure performed at most once per month versus those performed more often than once per month. Major procedures performed at most once per month per hospital accounted for an average among hospitals of 68% of the total inpatient costs associated with all major therapeutic procedures. On average, the percentage of total costs associated with uncommon procedures was 26% greater than expected based on their share of total discharges (P<0.00001). Average percentage differences were insensitive to the endpoint, with similar results for the percentage of patient days and percentage of DRG case-mix weights. Approximately 2/3rd (mean 68%) of inpatient costs among surgical patients can be attributed to procedures performed at most once per month per hospital. The finding that such uncommon procedures account for a large percentage of costs is important because methods of cost accounting by procedure are generally unsuitable for them. Copyright © 2017 Elsevier Inc. All rights reserved.

Gorlin-Goltz syndrome: A rare case report.

PubMed

Pol, Chetan A; Ghige, Suvarna K; Kalaskar, Ritesh R; Gosavi, Suchitra R

2013-10-01

Gorlin-Goltz syndrome is an uncommon autosomal dominant inherited disorder characterized by numerous basal cell carcinomas, odontogenic keratocysts (OKCs) and musculoskeletal malformations. A rare case of this syndrome observed in a 13-year-old male patient is presented in which multiple OKCs were causing disfigurement of the lower jaw as well as displacement and malocclusion of the teeth. Early diagnosis and treatment of this syndrome is important to reduce the severity of complications including cutaneous and cerebral malignancy and oromaxillofacial deformation and destruction due to jaw cysts.

Aspecific membranous laryngitis after infectious mononucleosis.

PubMed

Di Girolamo, S; Anselmi, M; Piccini, A; De Lauretis, A; Passàli, D

1996-01-01

Aspecific membranous laryngitis is an unusual but very serious complication of viral infections. Here, we report the uncommon finding of infectious mononucleosis characterized by aspecific membranous laryngitis with fever, dysphonia and severe dyspnea in a 12-year-old girl. Endoscopy showed mucopus and sloughed epithelium forming a pseudomembrane covering almost all the supraglottal region and a supraglottal swelling including the epiglottis and arytenoids. The importance of suspecting diphtheria, epiglottitis, viral or bacterial croup and laringo-tracheo-bronchitis and including them in the differential diagnosis is emphasized.

Regiochemically controlled synthesis of a β-4-β' [70]fullerene bis-adduct

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

Cerón, Maira R.; Castro, Edison; Neti, Venkata S. Pavan K.

2016-12-22

A β-4-β' C 70 bis-adduct regioisomer and an uncommon mono-adduct β-malonate C 70 derivative were synthesized by using a Diels–Alder cycloaddition followed by an addition–elimination of bromo-ethylmalonate and a retro-Diels–Alder cycloaddition reaction. Here, we also report the regioselective synthesis and spectroscopic characterization of C s-symmetric tris- and C 2v-symmetric tetra-adducts of C 70, which are the precursors of the mono- and bis-adduct final products.

Platypnea-orthodeoxia due to fat embolism.

PubMed

Gourgiotis, Stavros; Aloizos, Stavros; Gakis, Christos; Salemis, Nikolaos S

2011-01-01

Platypnea-orthodeoxia is an uncommon syndrome that is characterized by dyspnea relieved by recumbency and deoxygenation following a change from a recumbent to an upright posture. We herein describe a case of platypnea-orthodeoxia in a 75-year-old man after a surgical restoration of a bitrochanteric fracture of his right femur. However, in this extremely rare case, none of the current known anatomical or functional conditions which can cause platypnea-orthodeoxia had been diagnosed. We strongly believe that this syndrome could be also the result of fat embolism.

Cognitive outcome of cerebral fat embolism.

PubMed

Manousakis, Georgios; Han, Dong Y; Backonja, Miroslav

2012-11-01

Cerebral fat embolism is an uncommon but serious complication of long-bone fracture. We report a young adult patient who sustained fat embolism after a femoral fracture. He developed stupor and coma within 24 hours from his injury. His acute recovery was characterized by marked frontal dysfunction. A comprehensive neuropsychological evaluation 4 months later revealed overall normal cognitive function, except for mild residual frontal dysfunction and weakness of verbal memory. Copyright © 2012 National Stroke Association. Published by Elsevier Inc. All rights reserved.

[Superimposed lichen planus pigmentosus].

PubMed

Monteagudo, Benigno; Suarez-Amor, Óscar; Cabanillas, Miguel; de Las Heras, Cristina; Álvarez, Juan Carlos

2014-05-16

Lichen planus pigmentosus is an uncommon variant of lichen planus that is characterized by the insidious onset of dark brown macules in sun-exposed areas and flexural folds. Superimposed linear lichen planus is an exceedingly rare disorder, but it has been found in both lichen planopilaris and lichen planus types. A 39-year-old woman is presented showing a segmental and linear lichen planus associated with non-segmental lesions meeting all criteria for the diagnosis of superimposed linear planus pigmentosus. The segmental lesions were always more pronounced.

Quetiapine effective in treatment of inappropriate sexual behavior of lewy body disease with predominant frontal lobe signs.

PubMed

Prakash, Ravi; Pathak, Amit; Munda, Sanjay; Bagati, Dhruv

2009-01-01

Dementia of Lewy body disease is the second most common degenerative cause of dementia after Alzheimer's disease, among all the dementias. The core features are a progressive dementia, fluctuations in cognitive functions, visual hallucinations, and spontaneous parkinsonism. Rapid eye movement sleep behavior disorder, severe neuroleptic sensitivity, and low dopamine transporter uptake in basal ganglia are other suggestive features. Behavioral abnormalities are commonly present in the form of aggressive behavior, irritability, and uninhibited behaviors. These are mostly seen in the advanced stages of dementia. However, inappropriate sexual behavior is uncommonly seen in such cases. Three types of inappropriate sexual behaviors commonly found in cases of dementia are sex talks, sexual acts, and implied sexual acts. Such inappropriate sexual behaviors have not been described adequately in dementia of Lewy body disease. We report inappropriate sexual behaviors in a case of dementia of Lewy body disease, which improved rapidly after treatment with quetiapine.

Management of invasive group A streptococcal infections.

PubMed

Waddington, Claire S; Snelling, Thomas L; Carapetis, Jonathan R

2014-11-01

Invasive group A streptococcal (GAS) disease in children includes deep soft tissue infection, bacteraemia, bacteraemic pneumonia, meningitis and osteomyelitis. The expression of toxins and super antigens by GAS can complicate infection by triggering an overwhelming systemic inflammatory response, referred to as streptococcal toxic shock syndrome (STSS). The onset and progression of GAS disease can be rapid, and the associated mortality high. Prompt antibiotics therapy and early surgical debridement of infected tissue are essential. Adjunctive therapy with intravenous immunoglobulin and hyperbaric therapy may improve outcomes in severe disease. Nosocomial outbreaks and secondary cases in close personal contacts are not uncommon; infection control measures and consideration of prophylactic antibiotics to those at high risk are important aspects of disease control. To reduce a substantial part of the global burden of GAS disease, an affordable GAS vaccine with efficacy against a broad number of strains is needed. Crown Copyright © 2014. Published by Elsevier Ltd. All rights reserved.

Potential treatment of inflammatory bowel disease: a review of helminths therapy.

PubMed

Taghipour, Niloofar; Aghdaei, Hamid Asadzadeh; Haghighi, Ali; Mossafa, Nariman; Tabaei, Seyyed Javad Seyyed; Rostami-Nejad, Mohammad

2014-01-01

An inflammatory bowel disease (IBD) is most common in highly industrialized Western countries but uncommon in less developed areas of the world where helminths are frequent. The hygiene hypothesis proposes that the recent increase in allergic and autoimmune diseases is due to modern highly hygienic life styles and medical conditions. Loss of routine exposure to parasitic helminths, as a result of increasing lifestyle-associated factors, may be one factor leading to the increased disease prevalence. In animal models and clinical trials of IBD, gastrointestinal nematodes colonization suppresses intestinal inflammation through multiple mechanisms including induction of innate and adaptive regulatory circuits. Studies using helminths like Trichuris suis or Necator americanus showed that these helminths are safe and may be effective therapeutic approaches for the control of IBD and other immune diseases. The aim of present review was to exploring the therapeutic use of helminths for the control of IBD.

Neutrophilic progression in a case of polycytemia vera mimicking chronic neutrophilic leukemia: clinical and molecular characterization.

PubMed

Castelli, Roberto; Cugno, Massimo; Gianelli, Umberto; Pancrazzi, Alessandro; Vannucchi, Alessandro Maria

2015-04-01

In a small subset of polycytemia vera (PV), neutrophilia not secondary to reactive conditions or treatment can develop and persist. Clinical significance and morphogenetic alterations associated with this uncommon phenomenon are not well defined. An 81-year-old Caucasian woman, affected by polycytemia vera lasting 17 years, presented in March 2012 with hyperleukocytosis, absolute neutrophilia, and thrombocytosis despite hydroxyurea treatment. All other laboratory parameters were normal, except for an increased neutrophil alkaline phosphatase and lactate dehydrogenase. Reactive neutrophilia due to infection or neoplasia have been ruled out by a total body computerized tomography scan, and by low levels of C reactive protein. Re-evaluation of bone marrow showed hypercellular smears with expansion of granulopoiesis while immature granulocytes were <10% and myeloblasts were <1%. Bone marrow trephine biopsy showed hypercellular marrow, with panmyelosis, increased myeloid/erithroid ratio, polymorphic clusters of megakaryocytes. A loose network of reticulin fibers with many intersections was identified by means of Gomori's silver impregnation. There were no hybrid BCR/ABL gene transcripts of p210, p190 and p230, no mutations in platelet derived growth factor receptors alpha and beta. Flow cytometry on the aspirate showed that CD34+ CD117+ myeloblasts constituted less than 1% of total marrow nucleated cells, mature granulocytes demonstrated persistent expression of CD33. Mutational analysis of the gene CSF3R by PCR amplification revealed no alterations in exons 14-17, including codons 615 and 618. The case presented here represents a possible evolution of PV, albeit very rare. The condition described here differs from the CNL for the persistence of morphological pictures typical of myeloproliferative diseases, for absence of CSF3R gene mutations and for the hyper expansion of the mature granulopoietic series. The clinical significance and morphogenetic alterations associated with this uncommon phenomenon are not well defined. Copyright © 2014 Elsevier GmbH. All rights reserved.

[Sub capsular splenic hematoma in a sickle cell trait carrier. Case report].

PubMed

Ugalde, Diego; Conte, Guillermo; Ugalde, Héctor; Figueroa, Gastón; Cuneo, Marianela; Muñoz, Macarena; Mayor, Javiera

2011-09-01

Drepanocytic anemia is an uncommon hereditary disease in Chile. The heterozygous state of drepanocytic anemia or "sickle trait" has a frequency of 8% among Afro-Americans. A small number of patients carrying hemoglobin S are homozygous, with clinical manifestations of hemolytic anemia and thrombotic disease. Sickle trait is usually asymptomatic. We report a 59-year-old male who presented an acute abdominal pain and dyspnea while staying at high altitude. Six days later, an angio CAT scan showed the presence of a subcapsular splenic hematoma that was managed conservatively. Sickle cell induction with sodium metabisulphite was positive. Hemoglobin electrophoresis confirmed the sickle trait.

Neonatal herpes simplex virus infections.

PubMed

Pinninti, Swetha G; Kimberlin, David W

2018-04-01

Neonatal herpes simplex virus (HSV) is an uncommon but devastating infection in the newborn, associated with significant morbidity and mortality. The use of PCR for identification of infected infants and acyclovir for treatment has significantly improved the prognosis for affected infants. The subsequent use of suppressive therapy with oral acyclovir following completion of parenteral treatment of acute disease has further enhanced the long-term prognosis for these infants. This review article will discuss the epidemiology, risk factors and routes of acquisition, clinical presentation, and evaluation of an infant suspected to have the infection, and treatment of proven neonatal HSV disease. Copyright © 2018 Elsevier Inc. All rights reserved.

Idiopathic granulomatous mastitis: a case report of breast abscess

PubMed Central

Olsen, Molly L; Dilaveri, Christina A

2011-01-01

Idiopathic granulomatous mastitis (IGM) is an uncommon breast disease often mistaken for breast infection or abscess. We present a case of IGM diagnosed after prolonged ineffective treatment of presumed infectious mastitis with abscess. Once the diagnosis was made with biopsy and further evaluation to exclude other causes of granulomatous disease, sinus tract debridement and closure by secondary intent resulted in resolution of symptoms in our patient. Many cases of IGM require immunosuppression with steroids, methotrexate or extensive surgery. To prevent morbidity, IGM should be considered in the differential diagnosis when presumed infectious mastitis with breast abscess does not respond to usual treatment. PMID:22687677

Chest pain in daily practice: occurrence, causes and management.

PubMed

Verdon, François; Herzig, Lilli; Burnand, Bernard; Bischoff, Thomas; Pécoud, Alain; Junod, Michel; Mühlemann, Nicole; Favrat, Bernard

2008-06-14

We assessed the occurrence and aetiology of chest pain in primary care practice. These features differ between primary and emergency care settings, where most previous studies have been performed. 59 GPs in western Switzerland recorded all consecutive cases presenting with chest pain. Clinical characteristics, laboratory tests and other investigations as well as the diagnoses remaining after 12 months of follow-up were systematically registered. Among 24,620 patients examined during a total duration of 300 weeks of observation, 672 (2.7%) presented with chest pain (52% female, mean age 55 +/- 19(SD)). Most cases, 442 (1.8%), presented new symptoms and in 356 (1.4%) it was the reason for consulting. Over 40 ailments were diagnosed: musculoskeletal chest pain (including chest wall syndrome) (49%), cardiovascular (16%), psychogenic (11%), respiratory (10%), digestive (8%), miscellaneous (2%) and without diagnosis (3%). The three most prevalent diseases were: chest wall syndrome (43%), coronary artery disease (12%) and anxiety (7%). Unstable angina (6), myocardial infarction (4) and pulmonary embolism (2) were uncommon (1.8%). Potentially serious conditions including cardiac, respiratory and neoplasic diseases accounted for 20% of cases. A large number of laboratory tests (42%), referral to a specialist (16%) or hospitalisation (5%) were performed. Twentyfive patients died during follow-up, of which twelve were for a reason directly associated with thoracic pain [cancer (7) and cardiac causes (5)]. Thoracic pain was present in 2.7% of primary care consultations. Chest wall syndrome pain was the main aetiology. Cardio - vascular emergencies were uncommon. However chest pain deserves full consideration because of the occurrence of potentially serious conditions.

Clinical features and treatment outcome of non-small cell lung cancer (NSCLC) patients with uncommon or complex epidermal growth factor receptor (EGFR) mutations

PubMed Central

Fassan, Matteo; Indraccolo, Stefano; Calabrese, Fiorella; Favaretto, Adolfo; Bonanno, Laura; Polo, Valentina; Zago, Giulia; Lunardi, Francesca; Attili, Ilaria; Pavan, Alberto; Rugge, Massimo; Guarneri, Valentina; Conte, PierFranco; Pasello, Giulia

2017-01-01

Introduction Tyrosine-kinase inhibitors (TKIs) represent the best treatment for advanced non-small cell lung cancer (NSCLC) with common exon 19 deletion or exon 21 epidermal growth factor receptor mutation (EGFRm). This is an observational study investigating epidemiology, clinical features and treatment outcome of NSCLC cases harbouring rare/complex EGFRm. Results Among 764 non-squamous NSCLC cases with known EGFRm status, 26(3.4%) harboured rare/complex EGFRm. Patients receiving first-line TKIs (N = 17) achieved median Progression Free Survival (PFS) and Overall Survival (OS) of 53 (IC 95%, 2–105) and 84 (CI 95%, 27–141) weeks respectively, without significant covariate impact. Response Rate and Disease Control Rate (DCR) were 47% and 65%, respectively. Uncommon exon 19 mutations achieved longer OS and PFS and higher DCR compared with exon 18 and 20 mutations. No additional gene mutation was discovered by MassARRAY analysis. TKIs were globally well tolerated. Materials and methods A retrospective review of advanced non-squamous NSCLC harbouring rare/complex EGFRm referred to our Center between 2010 and 2015 was performed. Additional molecular pathways disregulation was explored in selected cases, through MassARRAY analysis. Conclusions Peculiar clinical features and lower TKIs sensitivity of uncommon/complex compared with common EGFRm were shown. Exon 19 EGFRm achieved the best TKIs treatment outcome, while the optimal treatment of exon 18 and 20 mutations should be further clarified. PMID:28427238

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…

Primary hyperparathyroidism may masquerade as rickets-osteomalacia in vitamin D replete children.

PubMed

Ganie, Mohd Ashraf; Raizada, Nishant; Chawla, Himika; Singh, Arun Kumar; Aggarwala, Sandeep; Bal, Chandra Sekhar

2016-10-01

Primary hyperparathyroidism, typically a disease of the middle aged and the old, is less commonly seen in children. In children the disease has a bimodal age distribution with calcium sensing receptor mutation presenting in infancy as hypercalcemic crises and parathyroid adenoma or hyperplasia presenting later in childhood with bone disease. The childhood parathyroid adenomas are often familial with multiglandular disease and manifest with severe bone disease unlike adults. We report a series of four male patients with juvenile primary hyperparathyroidism, three of whom presented with bone disease masquerading as rickets-osteomalacia. One patient had asymptomatic hypercalcemia with short stature. Parathyroid adenoma was detected in all the four cases and all of them underwent resection of parathyroid adenomas confirmed on histopathology. Post-surgery all the cases had initial hypocalcaemia followed by normocalcemia. One case developed pancreatitis after surgery even after achieving normocalcemia. We conclude that parathyroid adenomas, although uncommon in children, are an important cause of skeletal disease that may initially be confused with hypovitaminosis D.

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

2017-11-01

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.

A report on radiation-induced gliomas

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

Salvati, M.; Artico, M.; Caruso, R.

1991-01-15

Radiation-induced gliomas are uncommon, with only 73 cases on record to date. The disease that most frequently occasioned radiation therapy has been acute lymphoblastic leukemia (ALL). Three more cases are added here, two after irradiation for ALL and one after irradiation for tinea capitis. In a review of the relevant literature, the authors stress the possibility that the ALL-glioma and the retinoblastoma-glioma links point to syndromes in their own right that may occur without radiation therapy.56 references.

PULMONARY MUCORMYCOSIS MIMICKING AS PULMONARY TUBERCULOSIS: A CASE REPORT

PubMed Central

Garg, Rajiv; Marak, Rungmei SK; Verma, Sanjay Kumar; Singh, Jagdeep; Sanjay; Prasad, Rajendra

2008-01-01

Pulmonary Mucormycosis is an uncommon disease caused by fungi of class Zygomycetes. It occurs predminantly in an immunodeficient host most common risk factor being diabetes mellitus. The lesions are localized in the lungs or the mediastinum. We are reporting a case of 70 years old male, having cough, haemoptysis, fever and chest pain. He was on antituberculosis treatment (RHEZ) for last 10 days and was later found to have Pulmonary Mucormycosis on further evaluation. PMID:20165666

Quadriparesis in a young female suffering from rheumatoid arthritis.

PubMed

Gupta, A K; Agarwal, N; Yadava, R K; Jain, S K

2003-07-01

Cervical spine is involved in a significant proportion of patients suffering from rheumatoid arthritis. Although cervical spine disease may often be 'benign', neurological complications are not uncommon. Patients of rheumatoid arthritis should be screened for cervical spine involvement and appropriately treated with combination of anti-rheumatic drugs. We report a case of quadriparesis secondary to subluxation and disc herniation at C4-C5 level in a young woman with rheumatoid arthritis of short duration.

Drug-induced acute liver failure: results of a U.S. multicenter, prospective study.

PubMed

Reuben, Adrian; Koch, David G; Lee, William M

2010-12-01

Acute liver failure (ALF) due to drug-induced liver injury (DILI), though uncommon, is a concern for both clinicians and patients. The Acute Liver Failure Study Group has prospectively collected cases of all forms of acute liver failure since 1998. We describe here cases of idiosyncratic DILI ALF enrolled during a 10.5-year period. Data were collected prospectively, using detailed case report forms, from 1198 subjects enrolled at 23 sites in the United States, all of which had transplant services. A total of 133 (11.1%) ALF subjects were deemed by expert opinion to have DILI; 81.1% were considered highly likely, 15.0% probable, and 3.8% possible. Subjects were mostly women (70.7%) and there was overrepresentation of minorities for unclear reasons. Over 60 individual agents were implicated, the most common were antimicrobials (46%). Transplant-free (3-week) survival was poor (27.1%), but with highly successful transplantation in 42.1%, overall survival was 66.2%. Transplant-free survival in DILI ALF is determined by the degree of liver dysfunction, specifically baseline levels of bilirubin, prothrombin time/international normalized ratio, and Model for End-Stage Liver Disease scores. DILI is an uncommon cause of ALF that evolves slowly, affects a disproportionate number of women and minorities, and shows infrequent spontaneous recovery, but transplantation affords excellent survival. Copyright © 2010 American Association for the Study of Liver Diseases.

High prevalence of Mycobacterium tuberculosis bacteraemia among a cohort of HIV-infected patients with severe sepsis in Lusaka, Zambia.

PubMed

Muchemwa, Levy; Shabir, Lakhi; Andrews, Ben; Bwalya, Mwango

2017-05-01

Tuberculosis is recognised as one of the leading causes of severe sepsis among HIV-infected patients. Most patients with Mycobacterium tuberculosis bacteraemia have advanced HIV disease with CD4 counts less than 100 cells/μl and its presentation is non-specific in most instances. This was a cross-sectional study which was done by analyzing data from 201 adult HIV-infected patients who met the inclusion criteria for severe sepsis. The prevalence of Mycobacterium tuberculosis bactraemia in the study population was 34.8%. Severe sepsis caused by other etiologies was observed in 33 (16.4%) of the participants. Concomitant infection of Mycobacterium tuberculosis bactraemia with other organisms is not uncommon in patients with severe sepsis. This cohort of HIV-infected patients had severe immunosuppression with a median CD4 count of 51 (20-136) cells/μl with moderate anaemia, mean haemoglobin 8.0 (3.0) g/dl, and were generally underweight with a mean mid upper arm circumference (MUAC) of 21.0 (3.4) cm. Mycobacterium tuberculosis bacteraemia is very common in HIV-infected patients with advanced HIV disease who present with severe sepsis. Mycobacterium tuberculosis bacteraemia co-infection with aerobic organisms is not uncommon. Factors that were independently associated with Mycobacterium tuberculosis bacteraemia in our study population were MUAC and sodium level.

Immune system cells in healthy ferrets: an immunohistochemical study.

PubMed

Vidaña, B; Majó, N; Pérez, M; Montoya, M; Martorell, J; Martínez, J

2014-07-01

The ferret has emerged as an excellent animal model to characterize several physiologic and pathologic conditions. The distribution and characterization of different types of immune system cells were studied in healthy ferret tissues. Eight primary antibodies were tested for immunohistochemistry in formalin-fixed tissues: anti-CD3, anti-CD79α, anti-CD20, anti-HLA-DR, anti-lysozyme, anti-CD163, anti-SWC3, and anti-Mac387. The anti-CD3 antibody labeled T cells mainly in interfollicular and paracortical areas of lymph nodes, cortex and thymic medulla, and periarteriolar lymphoid sheaths in the spleen. The anti-CD79α and anti-CD20 antibodies immunolabeled B cells located in lymphoid follicles at lymph nodes, spleen, and Peyer patches. The CD79α and CD20 antibodies also labeled cells with nonlymphoid morphology in atypical B-cell locations. The anti-HLA-DR antibody labeled macrophages, some populations of B and T lymphocytes, and different populations of dendritic cells in lymph nodes, Peyer patches, spleen, and thymus. The anti-lysozyme antibody immunolabeled macrophages in the liver, lymph nodes, spleen, and thymus. The Mac-387, CD163, and SWC3 antibodies did not show any positive reaction in formalin-fixed or frozen tissues. To elucidate the origin of the uncommon CD79α/CD20 positive cells, a double immunohistochemistry was carried out using the anti-HLA-DR + the anti-CD79α, the anti-HLA-DR + the anti-CD20, and the anti-lysozyme + the anti-CD79α antibodies. Double labeling was mainly observed when the anti-HLA-DR + the anti-CD79α antibodies were combined. The immunohistologic characterization and distribution of these immune system cells in healthy ferret tissues should be of value in future comparative studies of diseases in ferrets. © The Author(s) 2013.

Pulmonary changes on HRCT scans in nonsmoking females with COPD due to wood smoke exposure *

PubMed Central

Moreira, Maria Auxiliadora Carmo; Barbosa, Maria Alves; de Queiroz, Maria Conceição de Castro Antonelli Monteiro; Teixeira, Kim Ir Sen Santos; Torres, Pedro Paulo Teixeira e Silva; de Santana, Pedro José; Montadon, Marcelo Eustáquio; Jardim, José Roberto

2013-01-01

OBJECTIVE: To identify and characterize alterations seen on HRCT scans in nonsmoking females with COPD due to wood smoke exposure. METHODS: We evaluated 42 nonsmoking females diagnosed with wood smoke-related COPD and 31 nonsmoking controls with no history of wood smoke exposure or pulmonary disease. The participants completed a questionnaire regarding demographic data, symptoms, and environmental exposure. All of the participants underwent spirometry and HRCT of the chest. The COPD and control groups were adjusted for age (23 patients each). RESULTS: Most of the patients in the study group were diagnosed with mild to moderate COPD (83.3%). The most common findings on HRCT scans in the COPD group were bronchial wall thickening, bronchiectasis, mosaic perfusion pattern, parenchymal bands, tree-in-bud pattern, and laminar atelectasis (p < 0.001 vs. the control group for all). The alterations were generally mild and not extensive. There was a positive association between bronchial wall thickening and hour-years of wood smoke exposure. Centrilobular emphysema was uncommon, and its occurrence did not differ between the groups (p = 0.232). CONCLUSIONS: Wood smoke exposure causes predominantly bronchial changes, which can be detected by HRCT, even in patients with mild COPD. PMID:23670500

Deletion of SLC19A2, the high affinity thiamine transporter, causes selective inner hair cell loss and an auditory neuropathy phenotype.

PubMed

Liberman, M C; Tartaglini, E; Fleming, J C; Neufeld, E J

2006-09-01

Mutations in the gene coding for the high-affinity thiamine transporter Slc19a2 underlie the clinical syndrome known as thiamine-responsive megaloblastic anemia (TRMA) characterized by anemia, diabetes, and sensorineural hearing loss. To create a mouse model of this disease, a mutant line was created with targeted disruption of the gene. Cochlear function is normal in these mutants when maintained on a high-thiamine diet. When challenged with a low-thiamine diet, Slc19a2-null mice showed 40-60 dB threshold elevations by auditory brainstem response (ABR), but only 10-20 dB elevation by otoacoustic emission (OAE) measures. Wild-type mice retain normal hearing on either diet. Cochlear histological analysis showed a pattern uncommon for sensorineural hearing loss: selective loss of inner hair cells after 1-2 weeks on low thiamine and significantly greater inner than outer hair cell loss after longer low-thiamine challenges. Such a pattern is consistent with the observed discrepancy between ABR and OAE threshold shifts. The possible role of thiamine transport in other reported cases of selective inner hair cell loss is considered.

Managing side effects of JAK inhibitors for myelofibrosis in clinical practice.

PubMed

Saeed, Iram; McLornan, Donal; Harrison, Claire N

2017-07-01

Myelofibrosis (MF) is characterized by bone marrow fibrosis, abnormalities in peripheral counts, extramedullary hematopoiesis, splenomegaly and an increased risk of transformation to acute myeloid leukaemia. The disease course is often heterogeneous and management can range from observation alone through to allogeneic stem cell transplantation. As of 2017, the only approved medication for MF remains the JAK Inhibitor (JAKi), ruxolitinib (Novartis Pharmaceuticals, Basel, Switzerland; Incyte, Wilmington, Detroit, USA) although several others have reached advanced stages of clinical trials. Areas covered: In this review, we focus on the management of both common and uncommon side effects arising from the use of currently approved and clinical trial JAKi. Most of the discussion concerns ruxolitinib although we also cover both pacritinib (CTI BioPharma) and momelotinib (Gilead Sciences, Foster City, California) which have been in recent large, multinational phase III trials. The various approaches to management of JAKi-related side effects are discussed - with particular emphasis to anaemia, thrombocytopaenia and infection risk. Expert commentary: JAK inhibitors are effective in many individuals with MF and have revolutionized the current treatment paradigm. The side effect profile, in the most, is predictable and manageable with high degrees of clinical surveillance and dose modifications.

Mucinous Breast Cancer: a Review Study of 5 Year Experience from a Hospital-Based Series of Cases.

PubMed

Dumitru, Adrian; Procop, Alexandru; Iliesiu, Andreea; Tampa, Mircea; Mitrache, Luminita; Costache, Mariana; Sajin, Maria; Lazaroiu, Anca; Cirstoiu, Monica

2015-03-01

Mucinous carcinoma (also known as colloid carcinoma) is a particular type of breast cancer characterized by the presence of extracellular mucin and is linked with a more favorable prognosis than invasive breast carcinoma of no special type. Mucinous carcinoma of the breast is an uncommon form of breast tumor, often presenting as a lobulated, moderately well circumscribed mass on mammography, sonography, and MRI imaging. It accounts for 1 to 7% of all breast cancers. Pure mucinous breast carcinomas are rare and account for about 2% of all primary breast carcinomas. Metastatic disease happens at a lower rate than in other types of invasive carcinoma. We present our 5 year experience with this particular pathology in a retrospective review study. We identified 25 patients with mixed and pure mucinous breast cancer, the tumor size varied greatly from 2 to 19 cm in diameter. A subset of mixed mucinous carcinomas (8 cases) showed neuroendocrine differentiation or other associated premalignant lessions. Mucinous carcinoma of the breast is a rare entity with a favorable prognosis due to low incidence of lymph node metastases. Pure mucinous breast carcinoma has an even rare.

Mucinous Breast Cancer: a Review Study of 5 Year Experience from a Hospital-Based Series of Cases

PubMed Central

DUMITRU, Adrian; PROCOP, Alexandru; ILIESIU, Andreea; TAMPA, Mircea; MITRACHE, Luminita; COSTACHE, Mariana; SAJIN, Maria; LAZAROIU, Anca; CIRSTOIU, Monica

2015-01-01

Background: Mucinous carcinoma (also known as colloid carcinoma) is a particular type of breast cancer characterized by the presence of extracellular mucin and is linked with a more favorable prognosis than invasive breast carcinoma of no special type. Mucinous carcinoma of the breast is an uncommon form of breast tumor, often presenting as a lobulated, moderately well circumscribed mass on mammography, sonography, and MRI imaging. It accounts for 1 to 7% of all breast cancers. Pure mucinous breast carcinomas are rare and account for about 2% of all primary breast carcinomas. Metastatic disease happens at a lower rate than in other types of invasive carcinoma. Methods: We present our 5 year experience with this particular pathology in a retrospective review study. Results: We identified 25 patients with mixed and pure mucinous breast cancer, the tumor size varied greatly from 2 to 19 cm in diameter. A subset of mixed mucinous carcinomas (8 cases) showed neuroendocrine differentiation or other associated premalignant lessions. Conclusion: Mucinous carcinoma of the breast is a rare entity with a favorable prognosis due to low incidence of lymph node metastases. Pure mucinous breast carcinoma has an even rare. PMID:26225144

Gene-Specific Methylation Analysis in Thymomas of Patients with Myasthenia Gravis

PubMed Central

Lopomo, Angela; Ricciardi, Roberta; Maestri, Michelangelo; De Rosa, Anna; Melfi, Franca; Lucchi, Marco; Mussi, Alfredo; Coppedè, Fabio; Migliore, Lucia

2016-01-01

Thymomas are uncommon neoplasms that arise from epithelial cells of the thymus and are often associated with myasthenia gravis (MG), an autoimmune disease characterized by autoantibodies directed to different targets at the neuromuscular junction. Little is known, however, concerning epigenetic changes occurring in thymomas from MG individuals. To further address this issue, we analyzed DNA methylation levels of genes involved in one-carbon metabolism (MTHFR) and DNA methylation (DNMT1, DNMT3A, and DNMT3B) in blood, tumor tissue, and healthy thymic epithelial cells from MG patients that underwent a surgical resection of a thymic neoplasm. For the analyses we applied the methylation-sensitive high-resolution melting technique. Both MTHFR and DNMT3A promoters showed significantly higher methylation in tumor tissue with respect to blood, and MTHFR also showed significantly higher methylation levels in tumor tissue respect to healthy adjacent thymic epithelial cells. Both DNMT1 and DNMT3B promoter regions were mostly hypomethylated in all the investigated tissues. The present study suggests that MTHFR methylation is increased in thymomas obtained from MG patients; furthermore, some degrees of methylation of the DNMT3A gene were observed in thymic tissue with respect to blood. PMID:27999265

Nail disorders in infants and children.

PubMed

Piraccini, Bianca Maria; Starace, Michela

2014-08-01

Nail diseases in infants and children are an uncommon cause of consultation and are often difficult to diagnose and to manage. This review will cover nail diseases that are most commonly seen in clinical practice, including congenital and hereditary disorders and inflammatory, infective, and neoplastic nail diseases. The purpose of the review is to help the reader to recognize nail disorders at an early age and to manage them appropriately. Two recent large studies have reported the clinical findings of genetic disorders involving the nails, that is, pachyonychia congenita and epidermolysis bullosa. Only a few articles gave a comprehensive review of a disease, as occurred for onychomycosis, while the majority of the reports published in the recent literature involve single cases. Nail diseases in children and neonates are not easy to diagnose by nonexperts. Basic knowledge of the anatomy and biology of the nail facilitates their diagnosis as the understanding of their pathophysiology. This review gives hints at the most common nail diseases that affect infants and children.

Spectrum of high-resolution computed tomography imaging in occupational lung disease

PubMed Central

Satija, Bhawna; Kumar, Sanyal; Ojha, Umesh Chandra; Gothi, Dipti

2013-01-01

Damage to the lungs caused by dusts or fumes or noxious substances inhaled by workers in certain specific occupation is known as occupational lung disease. Recognition of occupational lung disease is especially important not only for the primary worker, but also because of the implications with regard to primary and secondary disease prevention in the exposed co-workers. Although many of the disorders can be detected on chest radiography, high-resolution computed tomography (HRCT) is superior in delineating the lung architecture and depicting pathology. The characteristic radiological features suggest the correct diagnosis in some, whereas a combination of clinical features, occupational history, and radiological findings is essential in establishing the diagnosis in others. In the presence of a history of exposure and consistent clinical features, the diagnosis of even an uncommon occupational lung disease can be suggested by the characteristic described HRCT findings. In this article, we briefly review the HRCT appearance of a wide spectrum of occupational lung diseases. PMID:24604929

A systematic approach for the diagnosis and treatment of idiopathic peptic ulcers

PubMed Central

Chung, Chen-Shuan; Chiang, Tsung-Hsien; Lee, Yi-Chia

2015-01-01

An idiopathic peptic ulcer is defined as an ulcer with unknown cause or an ulcer that appears to arise spontaneously. The first step in treatment is to exclude common possible causes, including Helicobacter pylori infection, infection with other pathogens, ulcerogenic drugs, and uncommon diseases with upper gastrointestinal manifestations. When all known causes are excluded, a diagnosis of idiopathic peptic ulcer can be made. A patient whose peptic ulcer is idiopathic may have a higher risk for complicated ulcer disease, a poorer response to gastric acid suppressants, and a higher recurrence rate after treatment. Risk factors associated with this disease may include genetic predisposition, older age, chronic mesenteric ischemia, smoking, concomitant diseases, a higher American Society of Anesthesiologists score, and higher stress. Therefore, the diagnosis and management of emerging disease should systematically explore all known causes and treat underlying disease, while including regular endoscopic surveillance to confirm ulcer healing and the use of proton-pump inhibitors on a case-by-case basis. PMID:26354049

Fibrillary Glomerulonephritis in a Patient with Sjogren’s Syndrome

PubMed Central

Saleem, Tahira Sabeen; Usman, Muhammad Shariq; Chowdhury, Waliul; Kuzel, Aaron R; Iqbal, Hafiz Imran; Rahim, Mustafa

2018-01-01

Fibrillary glomerulonephritis (FGN) is an uncommon cause of primary glomerular disease. FGN is usually idiopathic; however, it has been associated with underlying malignancy or autoimmune diseases in some patients as well. The most commonly found autoimmune diseases in FGN patients include Graves’ disease, systemic lupus nephritis, Chron’s disease, and idiopathic thrombocytopenia purpura. FGN in a patient with underlying asymptomatic Sjogren’s syndrome is very rare in the literature, with only two previously reported cases of this association. We present the case of a 75-year-old female with a past medical history of asymptomatic primary Sjogren's syndrome and fibromyalgia, who presented to emergency department with a new episode of hypertension. The electron microscopy (EM) showed randomly arranged nonamyloid fibrillar deposits in the mesangium and glomerular capillary walls, confirming FGN. In this case-based review, we describe in detail the diagnostic work-up, clinical course, and complications in management. We also discuss some of the other nonamyloid fibrillary glomerular diseases. PMID:29922524

Spectrum of high-resolution computed tomography imaging in occupational lung disease.

PubMed

Satija, Bhawna; Kumar, Sanyal; Ojha, Umesh Chandra; Gothi, Dipti

2013-10-01

Damage to the lungs caused by dusts or fumes or noxious substances inhaled by workers in certain specific occupation is known as occupational lung disease. Recognition of occupational lung disease is especially important not only for the primary worker, but also because of the implications with regard to primary and secondary disease prevention in the exposed co-workers. Although many of the disorders can be detected on chest radiography, high-resolution computed tomography (HRCT) is superior in delineating the lung architecture and depicting pathology. The characteristic radiological features suggest the correct diagnosis in some, whereas a combination of clinical features, occupational history, and radiological findings is essential in establishing the diagnosis in others. In the presence of a history of exposure and consistent clinical features, the diagnosis of even an uncommon occupational lung disease can be suggested by the characteristic described HRCT findings. In this article, we briefly review the HRCT appearance of a wide spectrum of occupational lung diseases.

Caterpillars and moths: Part I. Dermatologic manifestations of encounters with Lepidoptera.

PubMed

Hossler, Eric W

2010-01-01

Caterpillars are the larval forms of moths and butterflies and belong to the order Lepidoptera. Caterpillars, and occasionally moths, have evolved defense mechanisms, including irritating hairs, spines, venoms, and toxins that may cause human disease. The pathologic mechanisms underlying reactions to Lepidoptera are poorly understood. Lepidoptera are uncommonly recognized causes of localized stings, eczematous or papular dermatitis, and urticaria. Part I of this two-part series on caterpillars and moths reviews Lepidopteran life cycles, terminology, and the epidemiology of caterpillar and moth envenomation. It also reviews the known pathomechanisms of disease caused by Lepidopteran exposures and how they relate to diagnosis and management. Part II discusses the specific clinical patterns caused by Lepidopteran exposures, with particular emphasis on groups of caterpillars and moths that cause a similar pattern of disease. It also discusses current therapeutic options regarding each pattern of disease.

Atypical presentation of Wilson disease.

PubMed

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

2011-08-01

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

Epstein-Barr virus infection and related hematological diseases.

PubMed

Sawada, Akihisa

2016-01-01

Once the Epstein-Barr virus (EBV) has infected a person, it then latently infects B cells. This latent infection lasts a lifetime. However, EBV can infect T or NK cells (T/NK cells) in rare cases. Therefore, EBV causes various hematological diseases. Among these diseases, CAEBV is regarded as the most problematic because, although it is not particularly uncommon, the diagnostic tests for this disease are not covered by health insurance, a serious illness in the "non-active" periods is lacking, and the appropriate motivation for early initiation of treatment can easily be lost. However, the symptoms may suddenly change; and if the manifestations are resistant when such exacerbation occurs, CAEBC is potentially lethal. Allogeneic hematopoietic stem cell transplantation (HSCT) is the only cure. Once the diagnosis has been made, earlier treatment initiation, safer bridging to allogeneic HSCT with multi-drug chemotherapy, and then, planned HSCT can be completed more safely and thereby achieve a better outcome.

Flexible bronchoscopic argon plasma coagulation for management of massive hemoptysis in bronchial Dieulafoy's disease

PubMed Central

Madan, Karan; Dhungana, Ashesh; Hadda, Vijay; Mohan, Anant; Guleria, Randeep

2017-01-01

Dieulafoy's disease is an uncommon condition, the usual site of occurrence being the gastrointestinal tract. The condition refers to the presence of a dysplastic submucosal artery with mucosal vascular branches that has propensity to cause recurrent bleeding. Dieulafoy's disease of the bronchus is rare. Herein, we describe the case of a 26-year-old male who presented with recurrent bouts of hemoptysis and bronchial Dieulafoy's disease was diagnosed. Flexible bronchoscopy was performed, and argon plasma coagulation (APC) of the bleeding lesion was done. The procedure was successful and was followed by complete eradication of the vascular malformation and cessation of hemoptysis. APC is a useful tool in the armamentarium of an interventional pulmonologist that can allow rapid and safe control of bleeding from superficially located and bleeding endobronchial lesions, and can be easily and effectively applied using a flexible bronchoscope. PMID:28144074

Postnatal Cardiac Autonomic Nervous Control in Pediatric Congenital Heart Disease

PubMed Central

Nederend, Ineke; Jongbloed, Monique R. M.; de Geus, Eco J. C.; Blom, Nico A.; ten Harkel, Arend D. J.

2016-01-01

Congenital heart disease is the most common congenital defect. During childhood, survival is generally good but, in adulthood, late complications are not uncommon. Abnormal autonomic control in children with congenital heart disease may contribute considerably to the pathophysiology of these long term sequelae. This narrative review of 34 studies aims to summarize current knowledge on function of the autonomic nervous system in children with a congenital heart defect. Large scale studies that measure both branches of the nervous system for prolonged periods of time in well-defined patient cohorts in various phases of childhood and adolescence are currently lacking. Pending such studies, there is not yet a good grasp on the extent and direction of sympathetic and parasympathetic autonomic function in pediatric congenital heart disease. Longitudinal studies in homogenous patient groups linking autonomic nervous system function and clinical outcome are warranted. PMID:29367565

Clinical association: Lyme disease and Guillain-Barre syndrome.

PubMed

Patel, Kinner; Shah, Siddharth; Subedi, Dinesh

2017-10-01

Guillain-Barre Syndrome (GBS) is a life-threatening condition in which patients may present to the Emergency Department in respiratory distress leading to death. The early identification and treatment of such a condition is paramount in preventing mortality. While there are many infections associated with GBS, the association with Lyme disease is uncommon. Through our case we aim to highlight Borrelia burgdorferi as an important antecedent infection associated with the development of GBS. In this case we report a 31-year-old male who was diagnosed with Lyme disease and GBS with relevant clinical presentation including progressive numbness and weakness in bilateral hands and feet for the past 1week along with areflexia. Initiation of medical therapy with intravenous immunoglobulin and parenteral ceftriaxone resulted in resolution of his symptoms. The treatment of both diseases early can help prevent further central nervous complications leading to high morbidity and mortality. Copyright © 2017 Elsevier Inc. All rights reserved.

Office dilation of the female urethra: a quality of care problem in the field of urology.

PubMed

Santucci, Richard A; Payne, Christopher K; Anger, Jennifer T; Saigal, Christopher S

2008-11-01

Historically dilation of the female urethra was thought to be of value in the treatment of a variety of lower urinary tract symptoms. Subsequent work has more accurately classified these complaints as parts of various diseases or syndromes in which scant data exist to support the use of dilation. Yet Medicare reimbursement for urethral dilation remains generous and we describe practice patterns regarding female urethral dilation to characterize a potential quality of care issue. Health care use by females treated with urethral dilation was compiled using a complementary set of databases. Data sets were examined for relevant inpatient, outpatient and emergency room services for women of all ages. Female urethral dilation is common (929 per 100,000 patients) and is performed almost as much as treatment for male urethral stricture disease. Approximately 12% of these patients are subjected to costly studies such as retrograde urethrography. The overall national costs for treatment exceed $61 million per year and have increased 10% to 17% a year since 1994. A diagnosis of female urethral stricture increases health care expenditures by more than $1,800 per individual per year in insured populations. Urethral dilation is still common despite the fact that true female urethral stricture is an uncommon entity. This scenario is likely secondary to the persistence of the mostly discarded practice of dilating the unstrictured female urethra for a wide variety of complaints despite the lack of data suggesting that it improves lower urinary tract symptoms.

A Critical Evaluation of Liver Pathology in Humans with Danon Disease and Experimental Correlates in a Rat Model of LAMP-2 Deficiency.

PubMed

Wang, Lu; Wang, Jingbo; Cai, Weile; Shi, Yongquan; Zhou, Xinmin; Guo, Guanya; Guo, Changcun; Huang, Xiaofeng; Han, Zheyi; Zhang, Shuai; Ma, Shuoyi; Zhou, Xia; Fan, Daiming; Gershwin, M Eric; Han, Ying

2017-08-01

Danon disease is a genetic deficiency in lysosome-associated membrane protein 2 (LAMP-2), a highly glycosylated constituent of the lysosomal membrane and characterized by a cardiomyopathy, skeletal muscle myopathy, and cognitive impairment. Patients, however, often manifest hepatic abnormalities, but liver function has not been well evaluated and the syndrome is relatively uncommon. Hence, we have taken advantage of a rat that has been deleted of LAMP-2 to study the relative role of LAMP-2 on liver function. Interestingly, rats deficient in LAMP-2 develop a striking increase in serum alkaline phosphatase (ALP) and a decrease in bile flow compared with wild-type littermates. Importantly and by ultrastructural analysis, deficient rats manifest dilated canaliculi that lack microvilli with evidence of bile-containing bodies. Moreover, following bile duct ligation, LAMP-2-deficient rats develop rapid and severe evidence of advanced cholestasis, with an increase in serum bilirubin, as early as 6 h later. In wild-type control rats, multidrug resistance-associated protein 2 (Mrp2) normally concentrates at the bile canalicular membranes to secrete conjugated bilirubin into bile. However, in LAMP-2 y/- rats, Mrp2 was detected in hepatocytes compared with other canalicular proteins including P-glycoproteins, dipeptidyl peptidase IV (CD26), and aminopeptidase (CD13). Our data further suggest that LAMP-2 interacts with the membrane cytoskeletal proteins radixin and F-actin in determining the localization of integral membrane proteins.

Refractory and Resistant Hypertension: Antihypertensive Treatment Failure versus Treatment Resistance

PubMed Central

2016-01-01

Resistant hypertension has for many decades been defined as difficult-to-treat hypertension in order to identify patients who may benefit from special diagnostic and/or therapeutic considerations. Recently, the term "refractory hypertension" has been proposed as a novel phenotype of antihypertensive failure, that is, patients whose blood pressure cannot be controlled with maximal treatment. Early studies of this phenotype indicate that it is uncommon, affecting less than 5% of patients with resistant hypertension. Risk factors for refractory hypertension include obesity, diabetes, chronic kidney disease, and especially, being of African origin. Patients with refractory are at high cardiovascular risk based on increased rates of known heart disease, prior stroke, and prior episodes of congestive heart failure. Mechanisms of refractory hypertension need exploration, but early studies suggest a possible role of heightened sympathetic tone as evidenced by increased office and ambulatory heart rates and higher urinary excretion of norepinephrine compared to patients with controlled resistant hypertension. Important negative findings argue against refractory hypertension being fluid dependent as is typical of resistant hypertension, including aldosterone levels, dietary sodium intake, and brain natriuretic peptide levels being similar or even less than patients with resistant hypertension and the failure to control blood pressure with use of intensive diuretic therapy, including both a long-acting thiazide diuretic and a mineralocorticoid receptor antagonist. Further studies, especially longitudinal assessments, are needed to better characterize this extreme phenotype in terms of risk factors and outcomes and hopefully to identify effective treatment strategies. PMID:27721847

Acute mesenteric ischemia: guidelines of the World Society of Emergency Surgery.

PubMed

Bala, Miklosh; Kashuk, Jeffry; Moore, Ernest E; Kluger, Yoram; Biffl, Walter; Gomes, Carlos Augusto; Ben-Ishay, Offir; Rubinstein, Chen; Balogh, Zsolt J; Civil, Ian; Coccolini, Federico; Leppaniemi, Ari; Peitzman, Andrew; Ansaloni, Luca; Sugrue, Michael; Sartelli, Massimo; Di Saverio, Salomone; Fraga, Gustavo P; Catena, Fausto

2017-01-01

Acute mesenteric ischemia (AMI) is typically defined as a group of diseases characterized by an interruption of the blood supply to varying portions of the small intestine, leading to ischemia and secondary inflammatory changes. If untreated, this process will eventuate in life threatening intestinal necrosis. The incidence is low, estimated at 0.09-0.2% of all acute surgical admissions. Therefore, although the entity is an uncommon cause of abdominal pain, diligence is always required because if untreated, mortality has consistently been reported in the range of 50%. Early diagnosis and timely surgical intervention are the cornerstones of modern treatment and are essential to reduce the high mortality associated with this entity. The advent of endovascular approaches in parallel with modern imaging techniques may provide new options. Thus, we believe that a current position paper from World Society of Emergency Surgery (WSES) is warranted, in order to put forth the most recent and practical recommendations for diagnosis and treatment of AMI. This review will address the concepts of AMI with the aim of focusing on specific areas where early diagnosis and management hold the strongest potential for improving outcomes in this disease process. Some of the key points include the prompt use of CT angiography to establish the diagnosis, evaluation of the potential for revascularization to re-establish blood flow to ischemic bowel, resection of necrotic intestine, and use of damage control techniques when appropriate to allow for re-assessment of bowel viability prior to definitive anastomosis and abdominal closure.

Foreign body aspiration in adult airways: therapeutic approach

PubMed Central

Hewlett, Justin C.; Rickman, Otis B.; Lentz, Robert J.; Prakash, Udaya B.

2017-01-01

Tracheobronchial foreign body (FB) aspiration is an uncommon but potentially life-threatening event in adults. Symptoms typically consist of a choking event followed by cough and dyspnea, however, these findings are inconsistent and symptoms may mimic more chronic lung diseases such as asthma or chronic obstructive pulmonary disease. Chest radiography and computed tomography can provide information regarding the location and characteristics of foreign bodies and aid in diagnosis. Bronchoscopy remains the gold standard for diagnosis and management of FB aspiration. The authors describe the typical clinical presentation, diagnostic evaluation, and bronchoscopic management of foreign bodies in adult airways with a focus on bronchoscopic techniques and potential complications of FB extraction. PMID:29221325

Forensic aspects of the aerotoxic syndrome.

PubMed

Abeyratne, Ruwantissa

2002-01-01

Three decades ago, cabin air quality was seemingly not an issue in commercial aviation and the incidence of disease through air borne vectors or toxic fumes was uncommon among passengers and crew. However, it is claimed that modern day jet airliners generally carry the threat of disease through the ventilator systems of these aircraft which are designed for optimum efficiency, leaving them exposed to lapses in the recycling of clean air and blocking fumes from engine exhausts of the jets from entering the inhabited parts of the aircraft. It has been claimed that aerotoxic fumes are most common in the cockpit, and that the technical crew are the most susceptible to the aerotoxic syndrome.

Acute Inhalation Injury

PubMed Central

Gorguner, Metin; Akgun, Metin

2010-01-01

Inhaled substances may cause injury in pulmonary epithelium at various levels of respiratory tract, leading from simple symptoms to severe disease. Acute inhalation injury (AII) is not uncommon condition. There are certain high risk groups but AII may occur at various places including home or workplace. Environmental exposure is also possible. In addition to individual susceptibility, the characteristics of inhaled substances such as water solubility, size of substances and chemical properties may affect disease severity as well as its location. Although AII cases may recover in a few days but AII may cause long-term complications, even death. We aimed to discuss the effects of short-term exposures (minutes to hours) to toxic substances on the lungs. PMID:25610115

Recent advances in anti-neutrophil cytoplasmic antibody-associated vasculitis

PubMed Central

Lazarus, B.; John, G. T.; O’Callaghan, C.; Ranganathan, D.

2016-01-01

Anti-neutrophil cytoplasmic antibody-associated vasculitis is an uncommon inflammatory disease of small to medium-sized vessels that frequently presents with rapidly progressive glomerulonephritis and renal failure though it can affect any organ system. If untreated, the vast majority of patients will die within a year. Current treatments improve prognosis but affected patients remain at a substantially higher risk of death and adverse outcomes. We review the classification of the disease, our understanding of the pathogenesis and epidemiology, and propose future directions for research. We also evaluate the evidence supporting established treatment regimens and the progress of clinical trials for newer treatments to inform the design of future studies. PMID:27051131

Giant-cell interstitial pneumonia in a gas station worker.

PubMed

Lee, S M; Moon, C H; Oh, Y B; Kim, H Y; Ahn, Y; Ko, E J; Joo, J E

1998-10-01

Giant-cell interstitial Pneumonia (GIP) is a very uncommon respiratory disease. The majority of cases of GIP are caused by exposure to cobalt, tungsten and other hard metals. In this report, we describe GIP in a patient who worked in gas station and dealt in propane gas vessels. He presented with clinical features of chronic interstitial lung disease and underwent an open lung biopsy that showed DIP-like reaction with large numbers of intra-alveolar macrophages and numerous large, multinucleated histiocytes which were admixed with the macrophages. Analysis of lung tissue for hard metals was done. Cobalt was the main component of detected hard metals. Corticosteroid therapy was started and he recovered fully.

Pericardial Cyst: Cause of Sudden Cardiac Death?

PubMed

Ley, Marie Brix; Larsen, Maiken Kudahl

2018-05-21

Cardiovascular disease is the leading cause of sudden death in the world. The etiology of sudden cardiac death involves a wide range of diseases, but seldom pericardial cysts. A pericardial cyst is an uncommon cyst usually located in the middle mediastinum and rarely in the posterior part. They are usually harmless and asymptomatic. Here, we present a case of a 63-year-old woman who presented with dyspnea and hoarseness, but died suddenly after a CT scan was attempted. The detailed forensic pathologic and histologic examination revealed a pericardial cyst located in the posterior mediastinum. Toxicology and biochemistry tests, including tryptase, found no competing cause of death. © 2018 American Academy of Forensic Sciences.

[Uncommon foreign body in a nose].

PubMed

Alagić-Smailbegović, Jasminka; Hadzić, Edina; Sutalo, Kamenko; Resić, Mudzahid

2007-01-01

Foreign body in the nose most frequently occurs in childhood. It could be of various origin, pieces of toys, paper and uncommon metal body. Consequences include one- sided nasal breathing problem, nasal secretion and in some cases pain and secretion become purulent. The aim of this paper is to present uncommon foreign body in the nose. RTG diagnosis and extraction are the methods of choice.

AIDS phobia: report of 4 cases.

PubMed

Ross, M W

1988-01-01

Psychological reactions to sexually transmissible disease (STD) infection are common, occurring in up to 85% of some patients with STDs: Hart has suggested that they are among the most common conditions encountered in venereology. Previous psychiatric disturbances in STD patients, however, are relatively uncommon and differ in both etiology and management from such psychological sequelae of STD infection, although both Catalan et al. and Fitzpatrick et al. report that in the United Kingdom, some 40% of STD clinic attenders had General Health Questionnaire scores indicating they were psychiatric cases.

Coexistence of Multiple Sclerosis and Brain Tumor: An Uncommon Diagnostic Challenge.

PubMed

Abrishamchi, Fatemeh; Khorvash, Fariborz

2017-01-01

Nonneoplastic demyelinating processes of the brain with mass effect on magnetic resonance imaging can cause diagnostic difficulties. It requires differential diagnosis between the tumefactive demyelinating lesion and the coexistence of neoplasm. We document the case of 41-year-old woman with clinical and radiological findings suggestive of multiple sclerosis. Additional investigations confirmed the coexistence of astrocytoma. This report emphasizes the importance of considering brain tumors in the differential diagnosis of primary demyelinating disease presenting with a cerebral mass lesion.

An unusual case of spontaneous esophagopleural fistula.

PubMed

Dash, Manoranjan; Mohanty, Thitta; Patnaik, Jyoti; Mishra, Narayan; Subhankar, Saswat; Parida, Priyadarsini

2017-01-01

Esophago-pleural fistula (EPF) is an uncommon condition, despite of an anatomical proximity of these structures. Causes of EPF include pneumonectomy for suppurative or tubercular disease of lung and carcinoma lung, malignancy of esophagus. Benign EPF is rare and may be due to trauma or infection. The most common infectious cause is tuberculosis. Spontaneous development of fistula between esophagus and pleura is rarely described in literature. We, hereby present a spontaneous case of such a rare entity in a middle-aged male.

An unusual case of spontaneous esophagopleural fistula

PubMed Central

Dash, Manoranjan; Mohanty, Thitta; Patnaik, Jyoti; Mishra, Narayan; Subhankar, Saswat; Parida, Priyadarsini

2017-01-01

Esophago-pleural fistula (EPF) is an uncommon condition, despite of an anatomical proximity of these structures. Causes of EPF include pneumonectomy for suppurative or tubercular disease of lung and carcinoma lung, malignancy of esophagus. Benign EPF is rare and may be due to trauma or infection. The most common infectious cause is tuberculosis. Spontaneous development of fistula between esophagus and pleura is rarely described in literature. We, hereby present a spontaneous case of such a rare entity in a middle-aged male. PMID:28474659

The role of imaging in diagnosing diseases of the distal radioulnar joint, triangular fibrocartilage complex, and distal ulna.

PubMed

Squires, Judy H; England, Eric; Mehta, Kaushal; Wissman, Robert D

2014-07-01

The purpose of this article is to review the anatomy, biomechanics, and multimodality imaging findings of common and uncommon distal radioulnar joint (DRUJ), triangular fibrocartilage complex, and distal ulna abnormalities. The DRUJ is a common site for acute and chronic injuries and is frequently imaged to evaluate chronic wrist pain, forearm dysfunction, and traumatic forearm injury. Given the complex anatomy of the wrist, the radiologist plays a vital role in the diagnosis of wrist pain and dysfunction.

Lymphoma presenting as gynaecomastia

PubMed Central

Mahmood, S; Sabih, Z; Sabih, D

2011-01-01

Breast lymphoma is an uncommon neoplasm affecting the breast and is extremely rare in males. While gynaecomastia is common and in most cases benign, it can sometimes result from significant pathology and the physician should keep in mind the possible diseases that can lead to gynaecomastia. This paper reports a case of lymphoma presenting as unilateral gynaecomastia. The paper discusses the differential diagnosis and emphasises the points that should raise the suspicion of pathology. Mammography, high resolution ultrasound and biopsy findings are discussed and literature survey is presented. PMID:22287984

Thyrotoxic hypokalemic periodic paralysis in a Hispanic male.

PubMed Central

Zumo, Lawrence A.; Terzian, Christian; Brannan, Timothy

2002-01-01

We report a case of a Hispanic male presenting with acute onset of bilateral lower extremity weakness, without any antecedent viral or bacterial illness, dietary changes, infiltrative orbitopathy, diffuse goiter, infiltrative dermopathy, and family history of periodic paralysis, who was later found to have Graves' disease. This demonstrates a rare case of periodic paralysis as the initial presentation of hyperthyroidism. Thyrotoxic hypokalemic periodic paralysis is common in Asian and Hispanic individuals and uncommon in whites and African Americans. PMID:12069220

[Septic thrombosis of the cavernous sinus due to folliculitis].

PubMed

Tuettenberg, A; Tuettenberg, J; Knop, J; Enk, A

2003-04-01

Sinus thrombosis is an acute life-threatening disease. While cavernous sinus thrombosis secondary to facial infections is described in the literature, it is uncommon. The key clinical characteristics are a facial infection, headache, chemosis and edema of the eyelid. The main differential diagnostic consideration is meningoencephalitis. Early diagnosis by angiography, magnetic resonance imaging and examination of CSF is important as treatment should be initiated as soon as possible in order to decrease morbidity and mortality. The mainstays of therapy are heparinization and appropriate intravenous antibiotic therapy.

Concurrent Koro and Cotard syndromes in a Spanish male patient with a psychotic depression and cerebrovascular disease.

PubMed

Alvarez, P; Puente, V M; Blasco, M J; Salgado, P; Merino, A; Bulbena, A

2012-01-01

Koro and Cotard syndromes are uncommon conditions described in a variety of psychiatric and medical disorders. The authors report the third case of a simultaneous presentation of both syndromes, in a 62-year-old inpatient Spanish male with major depressive disorder with psychotic features, parkinsonism and cognitive impairment. A discussion of the literature and the possible relationship between both syndromes and other neuropsychiatric disorders are presented. Copyright © 2012 S. Karger AG, Basel.

Predicting drug interactions in addiction treatment.

PubMed

Lucas, Catherine J; Patel, Joanne; Martin, Jennifer H

2017-08-01

It is not uncommon to be treating people with addiction who also have significant other health problems, including heart, renal or liver failure, diabetes and vascular disease. These conditions require regular medications to be taken. This can be a problem for people living with addiction and difficult social circumstances affecting compliance, among other issues. Our perspective provides a summary of general pharmacological factors affecting medicine taking in people with addiction problems, to provide a guide for hospital doctors in this setting. © 2017 Royal Australasian College of Physicians.

Cutaneous protothecosis in a patient with previously undiagnosed HIV infection.

PubMed

Fong, Kenneth; Tee, Shang-Ian; Ho, Madeline S L; Pan, Jiun Yit

2015-08-01

Protothecosis is an uncommon condition resulting from infection by achlorophyllous algae of the Prototheca species. Immunocompromised individuals are generally most susceptible to protothecal infection and tend to develop severe and disseminated disease. However, the association between protothecosis and HIV-induced immunosuppression is not clear, with only a handful of cases having been described to date. Here we report a case of cutaneous protothecosis in a Chinese man with previously undiagnosed HIV infection that responded well to oral itraconazole. © 2014 The Australasian College of Dermatologists.

Prototheca wickerhamii algaemia presenting as cholestatic hepatitis in a patient with systemic lupus erythematosus: A case report and literature review

PubMed Central

Min, Zaw; Moser, Stephen A.; Pappas, Peter G.

2012-01-01

Human protothecal infection is uncommon and could be localized or systemic disease. Disseminated Prototheca algaemia tends to occur in immunocompromised patients (solid organ transplants, hematological malignancies) with high mortality. Diagnosis could be missed or delayed due to unusual clinical presentation and/or under-recognition of characteristic microscopic features of Prototheca species. Combined approach that includes removal of source of infection and intravenous amphotericin B provides the best chance of cure. PMID:24432207

Myroides odoratus and Chryseobacterium indologenes: two rare isolates in the immunocompromised.

PubMed

Deepa, R; Venkatesh, K G; Parveen, J Durdana; Banu, S Thasneem; Jayalakshmi, G

2014-01-01

Myroides spp and Chryseobacterium spp are uncommon clinical isolates, though more frequently reported to cause infections than other pigmented non-fermentors. Two cases of Myroides odoratus and Chryseobacterium indologenes infection in a diabetic with pulmonary tuberculosis and a patient with de-compensated alcoholic liver disease, respectively, are reported here. Anti-microbial susceptibility testing of the isolates was performed by determining the minimum inhibitory concentration. The clinical picture, characteristic features of the isolates and the antibiotic susceptibility pattern are discussed briefly.

Breast cancer metastasis to the pituitary gland.

PubMed

Magalhães, Julia Fragoso; Bacchin, Renata Prota; Costa, Priscila Scatena; Alves, Gisele Malavazi; Fraige Filho, Fadlo; Stella, Lenira Cristina

2014-11-01

Metastatic tumors to the pituitary gland are an unusual complication typically seen in elderly patients with diffuse malignant disease. Breast and lung are the commonest sites of the primary tumor. Prognosis of patients with breast cancer metastasis is poor and depends on the primary neoplastic extension. We report a 54 year-old woman with breast cancer metastasis to the pituitary stalk first diagnosed because of visual disturbance with no other symptoms. Pituitary gland stalk metastasis is a very uncommon find and this case report includes a literature review.

Fourteen-Day Subacute Intravenous Toxicity Study of Hypertonic Saline/ Dextran 70 and its Constituents in Beagle Dogs

DTIC Science & Technology

1989-11-01

hepatic changes. The magnitude of the enzyme elevations, subsequent decreases in ALK and ALT levels, and -e absence of morphologic changes in the liver...of PT and A-PTT are not uncommon findings in severe, acute, hepatopathies in dogs (17). The increases in hepatic enzymes observed in HSD- and D70...clinical signs referable to liver disease, and the lack of .eaato lesions on histopathological examination, suggest tat the enzyme elevations may have

Retroperitoneal Extraskeletal Osteosarcoma: Imaging Findings and Transarterial Chemoembolization

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

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

2010-04-15

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

Diagnosis and treatment of diffuse large B-cell lymphoma in an orangutan (Pongo pygmaeus).

PubMed

Ikpatt, Offiong F; Reavill, Drury; Chatfield, Jason; Clubb, Susan; Rosenblatt, Joseph D; Fonte, Glenn; Fan, Yao-Shan; Cray, Carolyn

2014-12-01

Lymphoma is a common malignancy observed in companion animals. This type of naturally occurring neoplasia has been uncommonly reported in great apes. Diffuse large B-cell lymphoma was diagnosed in an 8-yr-old captive orangutan (Pongo pygmaeus) with gastrointestinal disease by histologic and immunohistochemical methodologies. The orangutan was treated with three cycles of combination chemotherapy (intravenous Rituxan, cyclophosphamide, doxorubicin, and vincristine). The primate has been in good health and exhibiting normal behaviors for more than 15 mo following treatment.

Herpes zoster involving penis and scrotum: an unusual occurrence.

PubMed

Arshad, Abdul Rehman; Alvi, Kamran Yousaf; Chaudhary, Ammad Akram

2015-03-01

Herpes zoster is an infectious vesicular skin rash in a dermatomal distribution caused by Varicella zoster virus. It occurs very uncommonly in sacral dermatomes. We describe a case with rash on penis and scrotum due to involvement of S2 dermatome in a young male. The disease followed an uneventful course and the patient recovered completely without any sequelae or complications. This case is being presented to highlight its unusual location and to discuss differentiation from another viral infection commonly seen at this site.

[Basan's syndrome: Congenital absence of dermatoglyphs and milia].

PubMed

Gagey-Caron, V; Stalder, J-F; Barbarot, S

2009-05-01

White micropapules are uncommon on the face newborns and are mainly due to sebaceous hyperplasia, or more rarely to milia. In some cases they may result from milia and profuse milia suggest rare diseases. We report the case of a newborn presenting with profuse congenital milia on the face that resolved spontaneously within a few months. This eruption revealed Basan's syndrome, a rare, autosomal dominant inherited dermatosis described as the association of profuse facial milia, acral bullae, absence of dermatoglyphs, and palmoplantar hypohydrosis.

Tacrolimus Optic Neuropathy.

PubMed

Rasool, Nailyn; Boudreault, Katherine; Lessell, Simmons; Prasad, Sashank; Cestari, Dean M

2018-06-01

Tacrolimus (FK506, Prograf) is a potent immunosuppressant, which inhibits cytokine synthesis and blocks T-cell development. Optic neuropathy from tacrolimus toxicity is very uncommon but, when present, can result in severe vision loss. Case series and review of the literature. We present 3 patients with tacrolimus optic neuropathy after bone marrow transplantation complicated by graft-vs-host disease and demonstrate the differing clinical and radiologic presentation of this presumed toxic optic neuropathy. Tacrolimus optic neuropathy can manifest in a multitude of clinical presentations and can have devastating visual consequences.

Early recognition of serious infections in obstetrics and gynecology.

PubMed

Soper, David E

2012-12-01

Pelvic infections commonly occur in pregnant and postoperative women. Most of these infections are readily diagnosed because of their typical clinical manifestations and prompt antimicrobial therapy that leads to the resolution of disease. However, uncommon cases may escape detection and the severity of the process may also go unrecognized without a careful assessment of clues available through physical examination and laboratory testing. In some cases a particularly virulent pathogen can lead to severe infection, septic shock and its consequences, even death, despite clinicians acting appropriately.

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.

Unusual Presentation of Uncommon Disease: Anorexia Nervosa Presenting as Wernicke-Korsakoff Syndrome—A Case Report from Southeast Asia

PubMed Central

Mushtaq, Raheel; Shah, Tabindah; Bhat, Mudasir; 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. PMID:24963430

Inflammatory bowel disease in children of middle eastern descent.

PubMed

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.

Feline dermatophytosis: aspects pertinent to disease management in single and multiple cat situations.

PubMed

Moriello, Karen

2014-05-01

Dermatophytosis (ringworm) is a superficial fungal skin disease of cats that, depending on the geographic region and practice caseload, may be encountered uncommonly through to commonly. This is a self-curing disease in an immunocompetent cat. Dermatophytosis is prevalent worldwide and is one of a number of zoonotic skin diseases that cat owners are at risk of contracting. Dermatophytosis causes non-specific signs of hair loss, erythema and scaling, making it a differential diagnosis for many skin diseases of cats. The fact that this disease is infectious and contagious, and does not have any one classic clinical presentation, makes knowledge of diagnostic tools important in detection. The veterinarian's role is in early disease recognition and institution of appropriate therapy to hasten resolution of the disease. The focus of this article is to provide an update and review of the most pertinent aspects that may be helpful in the management of dermatophytosis in any single or multiple cat situation. Where appropriate, evidence from the literature is used to supplement a summary of the author's clinical experience and research in feline dermatophytosis.

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

Gorlin-Goltz syndrome: A rare case report

PubMed Central

Pol, Chetan A; Ghige, Suvarna K; Kalaskar, Ritesh R; Gosavi, Suchitra R

2013-01-01

Gorlin-Goltz syndrome is an uncommon autosomal dominant inherited disorder characterized by numerous basal cell carcinomas, odontogenic keratocysts (OKCs) and musculoskeletal malformations. A rare case of this syndrome observed in a 13-year-old male patient is presented in which multiple OKCs were causing disfigurement of the lower jaw as well as displacement and malocclusion of the teeth. Early diagnosis and treatment of this syndrome is important to reduce the severity of complications including cutaneous and cerebral malignancy and oromaxillofacial deformation and destruction due to jaw cysts. PMID:24403808

Platypnea-orthodeoxia due to fat embolism

PubMed Central

Gourgiotis, Stavros; Aloizos, Stavros; Gakis, Christos; Salemis, Nikolaos S.

2011-01-01

Platypnea-orthodeoxia is an uncommon syndrome that is characterized by dyspnea relieved by recumbency and deoxygenation following a change from a recumbent to an upright posture. We herein describe a case of platypnea-orthodeoxia in a 75-year-old man after a surgical restoration of a bitrochanteric fracture of his right femur. However, in this extremely rare case, none of the current known anatomical or functional conditions which can cause platypnea-orthodeoxia had been diagnosed. We strongly believe that this syndrome could be also the result of fat embolism. PMID:22096710

Anti-NMDA Encephalitis: An Uncommon, Autoimmune Mediated Form of Encephalitis

PubMed Central

Azizyan, Avetis; Albrektson, Joshua R; Maya, Marcel M; Pressman, Barry D; Moser, Franklin

2014-01-01

We report an interesting case of a 19 year old female with findings on MRI suggestive of viral encephalitis. An extensive workup was negative for infectious causes and she was subsequently diagnosed with anti-NMDA encephalitis. Anti-NMDA encephalitis is a highly lethal but treatable form of autoimmune encephalitis that has recently been characterized. It is frequently found in young women and associated with an underlying teratoma. Although rare, this diagnosis should be considered in young females for whom a rapid onset of encephalitis cannot be explained by more common causes. PMID:25426239

Iatrogenic Cushing's syndrome caused by intranasal steroid use.

PubMed

Dursun, Fatma; Kirmizibekmez, Heves

2017-01-01

Cushing's syndrome (CS) is common after oral steroid use and has also been reported following topical or inhaled use, but it is extremely uncommon after intranasal administration. This is the case of a 6-year-old child who developed Cushing's syndrome after intranasal application of dexamethasone sodium phosphate for a period of 6 months. Pediatricians and other clinical practitioners should be aware that high-dose and long-term nasal steroid administration may cause iatrogenic Cushing's syndrome characterized by complications of glucocorticoid excess as well as serious and even life-threatening complications of adrenal insufficiency.

A case of eczematid-like purpura of Doucas and Kapetanakis in a child.

PubMed

Vedak, Priyanka; Nazarian, Rosalynn M; Kroshinsky, Daniela

2015-01-01

Eczematid-like purpura of Doucas and Kapetanakis is a subtype of the pigmented purpuric dermatoses, a group of uncommon dermatoses of unclear etiology characterized by purpura, petechiae, and hyperpigmentation. The Doucas and Kapetanakis subtype is rare in children, and its subtle findings can initially be overlooked and mistaken for other, more common dermatologic disorders in this age group. We present a case eczematid-like purpura of Doucas and Kapetanakis in an 11-year-old boy initially treated as eczema. © 2015 Wiley Periodicals, Inc.

Persistent Mullerian Duct Syndrome: an interesting case report.

PubMed

Farag, S; Sutton, P; Leow, K S; Kosai, N R; Razman, J; Hanafiah, H; Das, S

2013-01-01

Transverse testicular ectopia is an uncommon disorder of testicular ectopia. Nearly thirty percent of the cases is associated with Persistent mullerian duct syndrome which is characterized by karyotypically normal males with retained mullerian derivatives. Understanding the natural process of the condition and the association with malignant potential will allow for a better understanding of the optimal surgical approach. This is a case report of young male presented a left sided inguinal hernia in which the sac contained both testes and uterus. The literature review of the syndrome will be discussed.

[Characterization of an extracellular glycolipid from Lentinus edodes (Berk.) Sing [Lentinula edodes (Berk.) Pegler

PubMed

Tsivileva, O M; Nikitina, V E; Makarov, O E

2008-01-01

Submerged mycelium of a xylotrophic basidiomycete Lentinus edodes produces an extracellular glycolipid, S3, associated with a lectin. Galactose glycan residue, as well as the lipid pool composition, which includes nonhydroxylated short-chain fatty acids, is uncommon for basidiomycetes. The glycolipid consists of D-galactopyranose (15% of S3 contains galactose sulfate) acylated by octadecanoic and nonadecanoic fatty acid residues (28 and 72%, respectively). The glycolipid structure and composition are confirmed by physicochemical analysis. The glycolipid is assumed to be a regulator of lectin activity.

Aneurysmal Bone Cysts of the Spine: Two Case Reports

PubMed Central

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

2014-01-01

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

Aneurysmal bone cysts of the spine: two case reports.

PubMed

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

2014-12-01

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

The sleeping brain in Parkinson's disease: A focus on REM sleep behaviour disorder and related parasomnias for practicing neurologists.

PubMed

Bhidayasiri, Roongroj; Sringean, Jirada; Rattanachaisit, Watchara; Truong, Daniel D

2017-03-15

Sleep disorders are identified as common non-motor symptoms of Parkinson's disease (PD) and recently this recognition has been expanded to include parasomnias, encompassing not only REM sleep behaviour disorder (RBD), but also other non-REM forms. RBD, a prototypical parasomnia in PD, exists even in the prodromal stage of the disease, and is characterized by the presence of dream enactment behaviours occurring alongside a loss of normal skeletal muscle atonia during REM sleep. In contrast, non-REM parasomnias are more frequently observed in the late stage PD. However, the development of these disorders often overlaps and it is not uncommon for PD patients to meet the criteria for more than one type of parasomnias, thus making a clinical distinction challenging for practicing neurologists who are not sleep specialists. Indeed, clinical recognition of the predominant form of parasomnia does not just depend on video-polysomnography, but also on an individual physician's clinical acumen in delineating pertinent clinical history to determine the most likely diagnosis and proceed accordingly. In this review article, we highlight the various forms of parasomnias that have been reported in PD, including, but not limited to, RBD, with a focus on clinical symptomatology and implications for clinical practice. In addition, we review the differences in PD-related parasomnias compared to those seen in general populations. With advances in sleep research and better technology for ambulatory home monitoring, it is likely that many unanswered questions on PD-related parasomnias will soon be resolved resulting in better management of this nocturnal challenge in PD. Copyright © 2017 Elsevier B.V. All rights reserved.

A review of scoring systems for ocular involvement in chronic cutaneous bullous diseases.

PubMed

Lee, Brendon W H; Tan, Jeremy C K; Radjenovic, Melissa; Coroneo, Minas T; Murrell, Dedee F

2018-05-22

Epidermolysis bullosa (EB) and autoimmune blistering diseases (AIBD) describe a group of rare chronic dermatoses characterized by cutaneous fragility and blistering. Although uncommon, significant ocular surface disease (OSD) may occur in both and require ophthalmological assessment. Disease scoring systems have a critical role in providing objective and accurate assessment of disease severity. The objectives of this report were, firstly, to document the prevalence and severity of ocular involvement in EB/AIBD. Secondly, to review and evaluate existing ocular and systemic scoring systems for EB/AIBD. Finally, to identify areas where further development of ocular specific tools in EB/AIBD could be pursued. A literature search was performed in October 2017 utilising Medline, Embase, and Scopus databases. The results were restricted by date of publication, between 01.01.1950 and 31.10.2017. The reference lists of these articles were then reviewed for additional relevant publications. Articles of all languages were included if an English translation was available. Articles were excluded if they were duplicates, had no reference to ocular involvement in EB/AIBD or described ocular involvement in other diseases. Descriptions of ocular involvement in EB/AIBD were identified in 88 peer-reviewed journal articles. Findings reported include but are not limited to: cicatrising conjunctivitis, meibomian gland dysfunction, dry eye disease, trichiasis, symblepharon, fornix fibrosis, keratopathy, ectropion/entropion, ankyloblepharon, corneal ulceration, visual impairment and blindness. Although scoring systems exist for assessment of OSD in mucous membrane pemphigoid, no such tools exist for the other AIBD subtypes or for EB. Several systemic scoring systems exist in the dermatological literature that are efficacious in grading overall EB/AIBD severity, but have limited inclusion of ocular features. To the best of our knowledge, there is no recognised or validated scoring systems which comprehensively stages or grades the spectrum of ocular manifestations in EB/AIBD. There are a range of ocular complications documented in EB and AIBD. Development of a comprehensive ocular scoring system for EB/AIBD which incorporates the delineation between 'activity' and 'damage' would facilitate more objective patient assessment, improved longitudinal monitoring, comparison of intervention outcomes, and provide commonality for discussion of these patients due to the multidisciplinary nature of their care.

Squamous cell carcinoma presenting with trigeminal anesthesia: An uncommon presentation of head & neck cancer with unknown primary.

PubMed

Shah, Ameer T; Dagher, Walid I; O'Leary, Miriam A; Wein, Richard O

The differential diagnosis of facial anesthesia is vast. This may be secondary to trauma, neoplasm, both intracranial and extracranial, infection, and neurologic disease. When evaluating a patient with isolated facial anesthesia, the head and neck surgeon often thinks of adenoid cystic carcinoma, which has a propensity for perineural invasion and spread. When one thinks of head and neck squamous cell carcinoma with or without unknown primary, the typical presentation involves dysphagia, odynophagia, weight loss, hoarseness, or more commonly, a neck mass. Squamous cell carcinoma presenting as facial anesthesia and perineural spread, with no primary site is quite rare. Case presentations and review of the literature. Trigeminal anesthesia is an uncommon presentation of head and neck squamous cell carcinoma with unknown primary. We present two interesting cases of invasive squamous cell carcinoma of the trigeminal nerve, with no primary site identified. We will also review the literature of head and neck malignancies with perineural spread and the management techniques for the two different cases presented. Copyright © 2016 Elsevier Inc. All rights reserved.

Pulmonary Langerhans Cell Histiocytosis in an Adult Male Presenting with Central Diabetes Insipidus and Diabetes Mellitus: A Case Report.

PubMed

Choi, Yeun Seoung; Lim, Jung Soo; Kwon, Woocheol; Jung, Soon-Hee; Park, Il Hwan; Lee, Myoung Kyu; Lee, Won Yeon; Yong, Suk Joong; Lee, Seok Jeong; Jung, Ye-Ryung; Choi, Jiwon; Choi, Ji Sun; Jeong, Joon Taek; Yoo, Jin Sae; Kim, Sang-Ha

2015-10-01

Pulmonary Langerhans cell histiocytosis is an uncommon diffuse cystic lung disease in adults. In rare cases, it can involve extrapulmonary organs and lead to endocrine abnormalities such as central diabetes insipidus. A 42-year-old man presented with polyphagia and polydipsia, as well as a dry cough and dyspnea on exertion. Magnetic resonance imaging of the hypothalamic-pituitary system failed to show the posterior pituitary, which is a typical finding in patients with central diabetes insipidus. This condition was confirmed by a water deprivation test, and the patient was also found to have type 2 diabetes mellitus. Computed tomographic scanning of the lungs revealed multiple, irregularly shaped cystic lesions and small nodules bilaterally, with sparing of the costophrenic angles. Lung biopsy through video-assisted thoracoscopic surgery revealed pulmonary Langerhans cell histiocytosis. On a follow-up visit, only 1 year after the patient had quit smoking, clinical and radiological improvement was significant. Here, we report an uncommon case of pulmonary Langerhans cell histiocytosis that simultaneously presented with diabetes insipidus and diabetes mellitus.

Pulmonary Langerhans Cell Histiocytosis in an Adult Male Presenting with Central Diabetes Insipidus and Diabetes Mellitus: A Case Report

PubMed Central

Choi, Yeun Seoung; Lim, Jung Soo; Kwon, Woocheol; Jung, Soon-Hee; Park, Il Hwan; Lee, Myoung Kyu; Lee, Won Yeon; Yong, Suk Joong; Lee, Seok Jeong; Jung, Ye-Ryung; Choi, Jiwon; Choi, Ji Sun; Jeong, Joon Taek; Yoo, Jin Sae

2015-01-01

Pulmonary Langerhans cell histiocytosis is an uncommon diffuse cystic lung disease in adults. In rare cases, it can involve extrapulmonary organs and lead to endocrine abnormalities such as central diabetes insipidus. A 42-year-old man presented with polyphagia and polydipsia, as well as a dry cough and dyspnea on exertion. Magnetic resonance imaging of the hypothalamic-pituitary system failed to show the posterior pituitary, which is a typical finding in patients with central diabetes insipidus. This condition was confirmed by a water deprivation test, and the patient was also found to have type 2 diabetes mellitus. Computed tomographic scanning of the lungs revealed multiple, irregularly shaped cystic lesions and small nodules bilaterally, with sparing of the costophrenic angles. Lung biopsy through video-assisted thoracoscopic surgery revealed pulmonary Langerhans cell histiocytosis. On a follow-up visit, only 1 year after the patient had quit smoking, clinical and radiological improvement was significant. Here, we report an uncommon case of pulmonary Langerhans cell histiocytosis that simultaneously presented with diabetes insipidus and diabetes mellitus. PMID:26508947

An unusual cause of acute abdominal pain in dengue fever.

PubMed

Waseem, Tariq; Latif, Hina; Shabbir, Bilquis

2014-07-01

Dengue fever is an acute febrile viral disease caused by the bite of Aedes aegypti mosquito. It is a major health problem especially in tropical and subtropical areas including South East Asia and Pakistan. In the past few years, dengue fever has been endemic in Northern Punjab. Physicians managing dengue fever come across varied and uncommon complications of dengue fever. We report a case of dengue fever that developed severe right upper quadrant abdominal pain and induration after extreme retching and vomiting for 2 days. A rectus sheath hematoma was confirmed on noncontrast computed tomography (CT). Rectus sheath hematoma as a complication of dengue fever has rarely been reported before and never from this part of the world. Rectus sheath hematoma is an uncommon and often clinically misdiagnosed cause of abdominal pain. It is the result of bleeding into the rectus sheath from damage to the superior or inferior epigastric artery or their branches or from a direct tear of the rectus muscle. It can mimic almost any abdominal condition (See Fig.) (See Table).

Donation, Not Disease! A Multiple-Hit Hypothesis on Development of Post-Donation Kidney Disease.

PubMed

Cheng, Xingxing S; Glassock, Richard J; Lentine, Krista L; Chertow, Glenn M; Tan, Jane C

2017-01-01

The risks following living kidney donation has been the subject of rigorous investigation in the past several decades. How to utilize the burgeoning new knowledge base to better the risk assessment, education, and health maintenance of donors is unclear. We review the physiologic and epidemiologic evidences on the post-donation state and submit a multiple-hit hypothesis to reconcile the finite elevation in risk of kidney disease after donation with the benign course of most kidney donors. The risk of end-stage kidney disease is higher in kidney donors compared to similarly healthy non-kidney donors. Nonetheless, post-donation kidney disease is uncommon and arises mostly in the setting of other "hits"-either a "first hit" present at birth or a "second hit" acquired later in life. The transplant community's focus should be directed toward (1) personalized risk assessment to inform consent before donation and (2) preventing and treating development of "second hits" following kidney donation.

Unusual Onset of Celiac Disease and Addison's Disease in a 12-Year-Old Boy.

PubMed

Miconi, Francesco; Savarese, Emanuela; Miconi, Giovanni; Cabiati, Gabriele; Rapaccini, Valentina; Principi, Nicola; Esposito, Susanna

2017-07-29

Celiac disease (CD) is an autoimmune disorder deriving from an aberrant adaptive immune response against gluten-containing grains in genetically predisposed subjects. In a number of patients, CD is associated with one or more other autoimmune diseases. Primary Addison's disease (AD) and CD may co-exist, although this association is relatively uncommon in children. In addition, it is not precisely defined whether a gluten-free diet influences the course of AD. A case of CD in a 12-year-old boy presenting as acute adrenal insufficiency is described here. A gluten-free diet had a significant therapeutic role in this case, wherein most of the clinical signs and symptoms of AD disappeared in a few days. In addition, the dosage of cortisol acetate, initially administered to treat the AD, was able to be rapidly reduced. This case highlights that CD can be associated with AD in children, and a gluten-free diet seems to positively influence the course of AD.

Musculoskeletal involvements in sarcoidosis: A narrative review.

PubMed

Salari, Roshanak; Shariatmaghani, Somayeh; Sahebari, Maryam; Shalchiantabrizi, Payman; Salari, Masoumeh

2018-05-14

Sarcoidosis is a multisystem inflammatory disease with an etiology that is not clearly understood. Amongst the different organs that may be affected, the lungs are the most common. Musculoskeletal manifestations of the disease are uncommon. They include arthropathy, bone lesions, or myopathy, all of which may occur as initial symptoms or develop during the course of the disease. Articular involvement my present as arthralgia or arthritis. Skeletal complications usually develop in the chronic state of the disease. Muscular disease is rare and usually asymptomatic. Appropriate imaging modalities including X-ray, MRI, FDG-PET/CT assist in the diagnosis of rheumatic sarcoidosis. However, biopsy is necessary for definite diagnosis. In most cases of musculoskeletal involvement, NSAIDs and corticosteroids are sufficient for symptomatic management. For more resistant cases immunosuppressive drugs (i.e., methotrexate) and TNF-α inhibitors are used. Our aim is to review various types of musculoskeletal involvement in sarcoidosis and their existing treatment options. Copyright© Bentham Science Publishers; For any queries, please email at epub@benthamscience.org.

Musculoskeletal manifestations of sarcoidosis: A review article.

PubMed

Shariatmaghani, Somayeh; Salari, Roshanak; Sahebari, Maryam; Shalchiantabrizi, Payman; Salari, Masoumeh

2018-04-24

Sarcoidosis is a multisystem inflammatory disease with an etiology that is not clearly understood. Amongst the different organs that may be affected, the lungs are the most common. Musculoskeletal manifestations of the disease are uncommon. They include arthropathy, bone lesions, or myopathy, all of which may occur as initial symptoms or develop during the course of the disease. Articular involvement my present as arthralgia or arthritis. Skeletal complications usually develop in the chronic state of the disease. Muscular disease is rare and usually asymptomatic. Appropriate imaging modalities including X-ray, MRI, FDG-PET/CT assist in the diagnosis of rheumatic sarcoidosis. However, biopsy is necessary for definite diagnosis. In most cases of musculoskeletal involvement, NSAIDs and corticosteroids are sufficient for symptomatic management. For more resistant cases immunosuppressive drugs (i.e., methotrexate) and TNF-? inhibitors are used. Our aim is to review various types of musculoskeletal involvement in sarcoidosis and their existing treatment options. Copyright© Bentham Science Publishers; For any queries, please email at epub@benthamscience.org.

Pyoderma gangrenosum in a patient with chronic granulomatous disease: A case report.

PubMed

Nanoudis, Sideris; Tsona, Afroditi; Tsachouridou, Olga; Morfesis, Petros; Loli, Georgia; Georgiou, Adamantini; Zebekakis, Pantelis; Metallidis, Symeon

2017-08-01

The simultaneous occurrence of pyoderma gangrenosum (PG) and chronic granulomatous disease (CGD) is uncommon and few cases have been reported worldwide. PG is a rare, chronic, ulcerative, neutrophilic skin disease of unknown etiology that requires immunosuppressive treatment. CGD belongs to Primary Immune Deficiencies in which the main defect lies in an inability of the phagocytic cells to generate superoxide making patients susceptible to serious, potentially life-threatening bacterial and fungal infections. In this manuscript, we present a case of ulcerative pyoderma gangrenosum in a 28-year-old man with recent diagnosis of chronic granulomatous disease during hospitalization for resistant pulmonary tuberculosis complicated with Aspergillus infection. Second-line therapy with dapsone and intravenous immunoglobulin was initially administered but eventually corticosteroids were added to treatment because of disease progression and further ulceration. Patient's ulcers were gradually healed with no side effects. Corticosteroids could be used under close monitoring for the treatment of PG in a patient with CGD, despite the increased risk for infections.

Pyoderma gangrenosum in a patient with chronic granulomatous disease

PubMed Central

Nanoudis, Sideris; Tsona, Afroditi; Tsachouridou, Olga; Morfesis, Petros; Loli, Georgia; Georgiou, Adamantini; Zebekakis, Pantelis; Metallidis, Symeon

2017-01-01

Abstract Rationale: The simultaneous occurrence of pyoderma gangrenosum (PG) and chronic granulomatous disease (CGD) is uncommon and few cases have been reported worldwide. Patient concerns: PG is a rare, chronic, ulcerative, neutrophilic skin disease of unknown etiology that requires immunosuppressive treatment. CGD belongs to Primary Immune Deficiencies in which the main defect lies in an inability of the phagocytic cells to generate superoxide making patients susceptible to serious, potentially life-threatening bacterial and fungal infections. Diagnoses: In this manuscript, we present a case of ulcerative pyoderma gangrenosum in a 28-year-old man with recent diagnosis of chronic granulomatous disease during hospitalization for resistant pulmonary tuberculosis complicated with Aspergillus infection. Interventions: Second-line therapy with dapsone and intravenous immunoglobulin was initially administered but eventually corticosteroids were added to treatment because of disease progression and further ulceration. Outcomes: Patient's ulcers were gradually healed with no side effects. Lessons: Corticosteroids could be used under close monitoring for the treatment of PG in a patient with CGD, despite the increased risk for infections. PMID:28767612

Graves' disease in a 3 year-old patient with agranulocytosis due to anti-thyroid drugs: Radioiodine ablation therapy as an effective alternative.

PubMed

Espinosa-Muñoz, E; Ramírez-Ocaña, D; Martín-García, A M; Ruiz-García, F J; Puentes-Zarzuela, C

The case is presented of a 3 year-old girl with mitochondrial disease (subacute necrotizing encephalomyelopathy of Leigh syndrome), v-stage chronic kidney disease of a diffuse mesangial sclerosis, as well as developmental disorders, and diagnosed with hyperthyroidism Graves-Basedow disease. Six weeks after starting the treatment with neo-carbimazole, the patient reported a serious case of agranulocytosis. This led to stopping the anti-thyroid drugs, and was treated successfully with 131 I ablation therapy. The relevance of the article is that Graves' disease is uncommon in the paediatric age range (especially in children younger than 6 years old), and developing complications due to a possible late diagnosis. Agranulocytosis as a potentially serious adverse effect following the use of anti-thyroid drugs, and the few reported cases of ablation therapy with 131 I at this age, makes this case unique. Copyright © 2017 Elsevier España, S.L.U. y SEMNIM. All rights reserved.

Multiple oesophago-respiratory fistulae: sequelae of pulmonary tuberculosis in retroviral infection

PubMed Central

Low, Soo Fin; Ngiu, Chai Soon; Hing, Erica Yee; Abu Bakar, Norzailin

2014-01-01

Pulmonary tuberculosis (PTB) is a common infectious disease worldwide. However, mediastinal tuberculous lymphadenitis complicated by oesophageal involvement and oesophago-respiratory fistula is now uncommon due to improved anti-tuberculous regimes and better general awareness. The overall incidence of acquired oesophago-respiratory fistula due to infection is low, and therefore, the lesion is not often a frontrunner in differential diagnosis. Still, tuberculous oesophago-respiratory fistulae can potentially occur in patients with retroviral disease, as they tend to have atypical and more virulent manifestations. In this study, we report the case of multiple oesophago-respiratory fistulae in a patient with PTB and retroviral disease, and highlight the computed tomography features of these lesions as an atypical presentation of PTB in retroviral disease. Clinicians should suspect oesophago-respiratory fistulae if patients present with Ono’s sign, and remain particularly vigilant for patients with underlying PTB and retroviral disease, as early diagnosis and treatment could help to reduce mortality. PMID:24347038

Intravenous immunogobulin therapy for severe gastrointestinal involvement in systemic sclerosis.

PubMed

Clark, Kristina E N; Etomi, Oseme; Denton, Christopher P; Ong, Voon H; Murray, Charles D

2015-01-01

Gastrointestinal (GI) disease is one of the major causes of morbidity in patients with systemic sclerosis (SSc). The most common manifestation of GI disease is oesophageal involvement affecting 70-90% of patients. Severe GI disease is uncommon, but results in symptoms such as early satiety, pseudo-obstruction, weight loss and malnutrition. The pathogenesis is relatively poorly understood, and management focuses on symptomatic control rather than immunomodulation. We describe two cases of patients with SSc myositis overlap syndrome with severe GI involvement who demonstrated improvements in swallowing, early satiety and diarrhoea following the administration of intravenous immunoglobulin (IVIg). Clinical data related to the two cases were collected by review of medical records. GI complications range from mild symptoms to debilitating and life threatening. We propose that IVIg may have an immunomodulatory effect in a subset of patients with SSc myositis overlap syndrome.

Variations in clinical presentation and anatomical distribution of gross lesions of African swine fever in domestic pigs in the southern highlands of Tanzania: a field experience.

PubMed

Kipanyula, Maulilio John; Nong'ona, Solomon Wilson

2017-02-01

African swine fever is a contagious viral disease responsible for up to 100% mortality among domestic pigs. A longitudinal study was carried out to determine the clinical presentation and anatomical distribution of gross lesions in affected pigs in Mbeya region, Tanzania during the 2010 to 2014 outbreaks. Data were collected during clinical and postmortem examination by field veterinarians and using a structured questionnaire. A total of 118 respondents (100%) showed awareness about African swine fever. During previous outbreaks, the mortality rate was almost 100%, while in 2014 it was estimated to be less than 50%.The clinical picture of the 2010-2012 outbreaks was characterized by high fever, depression, inappetance, mucosal congestion, hemorrhages, erythematous lesions in different body parts, and abortion. Several internal organs including the kidneys, spleen, and liver were congested and edematous. During the 2014 outbreak, a number of pigs (49.7%) were asymptomatic when brought to slaughter slabs but were found to have African swine fever gross lesions at postmortem examination as compared to 12.3% in 2010-2012. Bluish discoloration, which is normally distributed on the non-hairy parts of the body, was not apparent in some pigs except at postmortem examination. Some pigs (36.1%) presented nasal and/or oral bloody discharges which were uncommon (9.1%) during previous outbreaks. Moreover, other gross features included enlarged dark red renal lymph nodes and spleen. Clinical signs such as anorexia, diarrhea, and pyrexia were mainly observed when affected pigs reached moribund stage. The majority of pregnant sows died without presenting abortions. In some litters, suckling piglets (3-6 weeks) survived from the disease. These findings indicated that in 2014, African swine fever outbreak in Mbeya region was characterized by a different clinical picture.

[Thyroid cancer in patients with Grave's Disease].

PubMed

Mssrouri, R; Benamr, S; Essadel, A; Mdaghri, J; Mohammadine, El H; Lahlou, M-K; Taghy, A; Belmahi, A; Chad, B

2008-01-01

To evaluate the incidence of thyroid carcinoma in patients operated on for Graves' disease, to identify criteria which may predict malignancy, and to develop a practical approach to determine the extensiveness of thyroidectomy. Retrospective study of all patients who underwent thyroidectomy for Graves' disease between 1995 and 2005. 547 patients underwent subtotal thyroidectomy for Graves' disease during this period. Post-operative pathology examination revealed six cases of thyroid cancer (1.1%). All six cases had differentiated thyroid carcinoma (papillary carcinoma in 3 cases, follicular carcinoma in 2 cases and papillo-follicular carcinoma in 1 case). The indication for initial thyroidectomy was a palpable thyroid nodule in 3 cases (50%), failure of medical treatment for Grave's disease in 2 cases (33%), and signs of goiter compression in 1 case (17%). Five patients underwent re-operative total thyroidectomy. This study shows that while malignancy in Grave's disease is uncommon, the presence of thyroid nodule(s) in patients with Grave's disease may be considered as an indication for radical surgery. The most adequate radical surgery in this situation is to perform a total thyroidectomy.

Feline dermatophytosis

PubMed Central

2014-01-01

Practical relevance: Dermatophytosis (ringworm) is a superficial fungal skin disease of cats that, depending on the geographic region and practice caseload, may be encountered uncommonly through to commonly. This is a self-curing disease in an immunocompetent cat. Global importance: Dermatophytosis is prevalent worldwide and is one of a number of zoonotic skin diseases that cat owners are at risk of contracting. Clinical challenges: Dermatophytosis causes non-specific signs of hair loss, erythema and scaling, making it a differential diagnosis for many skin diseases of cats. The fact that this disease is infectious and contagious, and does not have any one classic clinical presentation, makes knowledge of diagnostic tools important in detection. The veterinarian’s role is in early disease recognition and institution of appropriate therapy to hasten resolution of the disease. Aim: The focus of this article is to provide an update and review of the most pertinent aspects that may be helpful in the management of dermatophytosis in any single or multiple cat situation. Evidence base: Where appropriate, evidence from the literature is used to supplement a summary of the author’s clinical experience and research in feline dermatophytosis. PMID:24794038

Chronic Lyme borreliosis associated with minimal change glomerular disease: a case report.

PubMed

Florens, N; Lemoine, S; Guebre-Egziabher, F; Valour, F; Kanitakis, J; Rabeyrin, M; Juillard, L

2017-02-06

There are only few cases of renal pathology induced by Lyme borreliosis in the literature, as this damage is rare and uncommon in humans. This patient is the first case of minimal change glomerular disease associated with chronic Lyme borreliosis. A 65-year-old Caucasian woman was admitted for an acute edematous syndrome related to a nephrotic syndrome. Clinical examination revealed violaceous skin lesions of the right calf and the gluteal region that occurred 2 years ago. Serological tests were positive for Lyme borreliosis and skin biopsy revealed lesions of chronic atrophic acrodermatitis. Renal biopsy showed minimal change glomerular disease. The skin lesions and the nephrotic syndrome resolved with a sequential treatment with first ceftriaxone and then corticosteroids. We report here the first case of minimal change disease associated with Lyme borreliosis. The pathogenesis of minimal change disease in the setting of Lyme disease is discussed but the association of Lyme and minimal change disease may imply a synergistic effect of phenotypic and bacterial factors. Regression of proteinuria after a sequential treatment with ceftriaxone and corticosteroids seems to strengthen this conceivable association.

Putrescine Aminopropyltransferase Is Responsible for Biosynthesis of Spermidine, Spermine, and Multiple Uncommon Polyamines in Osmotic Stress-Tolerant Alfalfa.

PubMed Central

Bagga, S.; Rochford, J.; Klaene, Z.; Kuehn, G. D.; Phillips, G. C.

1997-01-01

The biosynthesis of polyamines from the diamine putrescine is not fully understood in higher plants. A putrescine aminopropyltransferase (PAPT) enzyme activity was characterized in alfalfa (Medicago sativa L.). This enzyme activity was highly specific for putrescine as the initial substrate and did not recognize another common diamine, 1,3-diaminopropane, or higher-molecular-weight polyamines such as spermidine and spermine as alternative initial substrates. The enzyme activity was inhibited by a general inhibitor of aminopropyltransferases, 5[prime]-methylthioadenosine, and by a specific inhibitor of PAPTs, cyclohexylammonium sulfate. The initial substrate specificity and inhibition characteristics of the enzyme activity suggested that it is a classical example of a PAPT. However, this enzyme activity yielded multiple polyamine products, which is uncharacteristic of PAPTs. The major reaction product of PAPT activity in alfalfa was spermidine. The next most abundant products of the enzyme reaction using putrescine as the initial substrate included the tetramines spermine and thermospermine. These two tetramines were distinguished by thin-layer chromatography to be distinct reaction products exhibiting differential rates of formation. In addition, the uncommon polyamines homocaldopentamine and homocaldohexamine were tentatively identified as minor enzymatic reaction products but only in extracts prepared from osmotic stresstolerant alfalfa cultivars. PAPT activity from alfalfa was highest in meristematic shoot tip and floral bud tissues and was not detected in older, nonmeristematic tissues. Product inhibition of the enzyme activity was observed after spermidine was added into the in vitro assay for alfalfa PAPT activity. A biosynthetic pathway is proposed that accounts for the characteristics of this PAPT activity and accommodates a novel scheme by which certain uncommon polyamines are produced in plants. PMID:12223719

Spinocerebellar Ataxia 27: A Review and Characterization of an Evolving Phenotype

PubMed Central

Groth, Christopher L.; Berman, Brian D.

2018-01-01

Background Spinocerebellar ataxia (SCA) is an uncommon form of progressive cerebellar ataxia with multiple genetic causes and marked variability in phenotypic expression even across patients with identical genetic abnormalities. SCA27 is a recently identified SCA caused by mutations in the Fibroblast Growth Factor 14 gene, with a phenotypic expression that is only beginning to be fully appreciated. We report here a case of a 70-year-old male who presented with slowly worsening tremor and gait instability that began in his early adulthood along with additional features of parkinsonism on examination. Work-up revealed a novel pathogenic mutation in the Fibroblast Growth Factor 14 gene, and symptoms improved with amantadine and levodopa. We also provide a review of the literature in order to better characterize the phenotypic expression of this uncommon condition. Methods Case report and review of the literature. Results Review of the literature revealed a total of 32 previously reported clinical cases of SCA27. Including our case, we found that early-onset tremor (12.1 ± 10.5 years) was present in 95.8%, while gait ataxia tended to present later in life (23.7 ± 16.7 years) and was accompanied by limb ataxia, dysarthria, and nystagmus. Other features of SCA27 that may distinguish it from other SCAs include the potential for episodic ataxia, accompanying psychiatric symptoms, and cognitive impairment. Discussion Testing for SCA27 should be considered in individuals with ataxia who report tremor as an initial or early symptom, as well as those with additional findings of episodic ataxia, neuropsychiatric symptoms, or parkinsonism. PMID:29416937

Periodontal diseases in children and adolescents: a clinician's perspective part 2.

PubMed

Kumar, Ashish; Masamatti, Sujata Surendra; Virdi, Mandeep Singh

2012-11-01

The general dental practitioner and paediatric dentist are in a unique position to identify and distinguish between a seemingly innocuous condition that may be a normal physiological aberration or an early sign of severe destructive periodontal disease. Although severe destructive periodontal conditions are uncommon in children, it is essential that children receive a periodontal screening as part of their regular dental examination. Early diagnosis ensures a high likelihood of a successful therapeutic outcome, primarily by reduction of aetiologic factors, remedial therapy and development of an effective maintenance protocol. This prevents the recurrence and progression of disease and reduces the incidence of tooth loss. In the first article, we discussed the classification, plaque-induced and non plaque-induced gingival diseases, localized and generalized forms of chronic as well as aggressive periodontitis. In this second article, we discuss periodontitis as a manifestation of systemic disease, necrotizing periodontal diseases, periodontal screening and basic periodontal examination, and treatment of periodontal diseases in children and adolescents. Incorporation of periodontal screening in regular dental examination by dentists can help in early diagnosis and treatment of periodontal diseases. This could prevent further progression of disease and reduce the frequency of tooth loss.

Lethal pneumatosis coli in a 12-month-old child caused by acute intestinal gas gangrene after prolonged artificial nutrition: a case report

PubMed Central

Kircher, Stefan; Wössner, Rupert; Müller-Hermelink, Hans-Konrad; Völker, Hans-Ullrich

2008-01-01

Introduction Pneumatosis coli is a rare disease with heterogeneous symptoms which can be detected in the course of various acute and chronic intestinal diseases in children, such as necrotizing enterocolitis, intestinal obstruction and intestinal bacteriological infections. Case presentation We report the case of a 12-month-old boy who died of pneumatosis coli caused by an acute intestinal gas gangrene after prolonged artificial alimentation. Conclusion While intestinal gas gangrene is a highly uncommon cause of pneumatosis coli, it is important to consider it as a differential diagnosis, especially in patients receiving a prolonged artificial food supply. These patients may develop intestinal gas gangrene due to a dysfunctional intestinal barrier. PMID:18652650

[Two cases of frontal fibrosing alopecia in postmenopausal women].

PubMed

Herrmann, Anke; Bormann, Gisela; Marsch, Wolfgang Christian; Wohlrab, Johannes

2004-08-01

Frontal fibrosing alopecia (FFA) is an uncommon, slowly progressive, cicatricial alopecia which mainly affects postmenopausal women. It is considered to be a variant of lichen planopilaris. We describe two postmenopausal women who developed over 11 and 24 months an asymptomatic atrophic alopecia, restricted to the frontal hairline. The diagnosis of FFA was confirmed by biopsy showing a perifollicular lymphocytic infiltrate with fibrosis. Topical corticosteroids, in one case combined with minoxidil, administered for 3 months arrested the hair loss. The treatment of FFA is often difficult. In most cases, the disease resolves spontaneously after several years. Immunomodulators such as corticosteroids and calcineurin antagonists should be tried in the early stage of FFA (frontal effluvium with perifollicular erythema) in order to arrest the disease in its inflammatory phase.

The clinical dilemma of "silent desensitization" in aspirin-exacerbated respiratory disease.

PubMed

White, Andrew A; Bosso, John V; Stevenson, Donald D

2013-01-01

Aspirin desensitization is a treatment option for patients with aspirin-exacerbated respiratory disease (AERD). Some patients with an excellent history of aspirin or nonsteroidal anti-inflammatory drug (NSAID) reactions have negative aspirin challenges/desensitization. This study discusses the clinical entity of silent desensitization in AERD and the dilemma that this presents to the practicing allergist/immunologist. We discuss a series of patients with a strong history of NSAID reactions who initially underwent a negative challenge/silent desensitization. These patients were subsequently proven to have AERD after a second positive aspirin challenge. Silent desensitization is an uncommon but important outcome to recognize in AERD. Clinicians performing aspirin desensitization should understand that this can occur and consider a second confirmatory aspirin challenge in some patients.

Impacts of national surveillance for uncommon conditions in childhood.

PubMed

Zurynski, Yvonne A; Peadon, Elizabeth; Bower, Carol; Elliott, Elizabeth J

2007-11-01

The Australian Paediatric Surveillance Unit (APSU) facilitates the conduct of national collaborative research that is consistent with national health priorities, has potential to impact on public health, and addresses gaps in knowledge. Since 1993 paediatricians and other child health specialists have contributed monthly data on rare childhood conditions to the APSU. Over 40 conditions, including infectious diseases, injuries, vaccine-preventable diseases and genetic disorders have been studied. Information on epidemiology, frequency, diagnosis, management and short-term outcomes of these conditions is collected and provides evidence to support changes to clinical practice, prevention policy and allocation of health resources. In this review we give examples of the value of information gathered through the APSU surveillance system in the last 14 years.

Cholelithiasis and Cholecystitis in Childhood

PubMed Central

Wingert, Willis A.; Mikity, Victor G.

1967-01-01

Six cases of cholecystitis and cholelithiasis confirmed by x-ray examination and surgical operation were observed in a ten-year period. Due to the wide variability in signs and symptoms in children, cholecystitis and cholelithiasis can be diagnosed only with a high degree of clinical suspicion and roentgenological examination. Gallbladder disease is uncommon in childhood but should be considered in children with vague abdominal pains or bouts of unexplained jaundice. If a normal appendix is found at laparotomy in the “acute abdomen,” the surgeon would be wise to palpate other specific organs within the abdomen, including the liver and gallbladder. The treatment of choice is cholecystectomy. The prognosis for recovery is excellent if there is no complicating systemic disease. ImagesFigure 1.Figure 2.Figure 3. PMID:6045485

Cough associated with gastro-oesophageal reflux disease (GORD): Japanese experience.

PubMed

Niimi, Akio

2017-12-01

Differences in the aetiology as well as patient background of chronic cough have been recognised among US, UK, and Japan. One of the marked differences has been the prevalence of gastro-oesophageal reflux disease (GORD), which has been one of the top three causes in Western countries. It was indeed uncommon or rare in Japan, but, with the increasing prevalence of GOR itself, chronic cough associated with GORD seems to have become more common. In this article, cough associated with GORD will be reviewed based on literature and our Japanese experience. Further, potentially broader relevance of GORD in chronic cough will also be mentioned, highlighting the potential importance of dysmotiliy/non-acid reflux. Copyright © 2017 Elsevier Ltd. All rights reserved.

Loeffler Endocarditis: A Unique Presentation of Right-Sided Heart Failure Due to Eosinophil-Induced Endomyocardial Fibrosis.

PubMed

Alam, Amit; Thampi, Shankar; Saba, Shahryar G; Jermyn, Rita

2017-01-01

Loeffler endocarditis is a rare restrictive cardiomyopathy caused by abnormal endomyocardial infiltration of eosinophils, with subsequent tissue damage from degranulation, eventually leading to fibrosis. Although an uncommon entity, it is still a disease with significant morbidity and mortality. Often identified only at late stages, treatment options are limited once fibrosis occurs, usually requiring heart failure medications or surgical intervention. We present a unique case of a woman with remote history of hypereosinophilic syndrome, attributed to treatment of rheumatoid arthritis with infliximab, who presented with symptoms of heart failure refractory to medical management and was found to have Loeffler endocarditis. The severe progression of the disease required surgical intervention with endocardial stripping to treat the right-sided diastolic heart failure.

Endomyocardial fibrosis in Africa.

PubMed Central

Falase, A. O.

1983-01-01

Endomyocardial fibrosis (EMF) is a disease of the rain-forest belt in Africa. There is general agreement as to its pathology in the acute phase, but this is difficult to diagnose clinically. The aetiology is still unknown although there are reports which suggest that eosinophilic endomyocardial disease may be the cause. Further studies are needed to define EMF in its acute stage and find out how chronic EMF evolves. A longitudinal study on young people with eosinophilia and a comparative study of two villages, one in an endemic zone and the other in a zone where EMF is uncommon, will also be helpful in identifying its cause. The most promising form of treatment at present is surgical. Images Fig. 2 Fig. 3 Fig. 4 PMID:6844202

Lupus nephritis: prolonged immunoadsorption (IAS) reduces proteinuria and stabilizes global disease activity.

PubMed

Stummvoll, Georg H; Schmaldienst, Sabine; Smolen, Josef S; Derfler, Kurt; Biesenbach, Peter

2012-02-01

Systemic lupus erythematosus (SLE) is characterized by pathogenic autoantibodies, which can be removed by extracorporeal procedures. While previous studies have shown short-term efficacy of immunoadsorption (IAS) in SLE, no information on long-term benefit and safety is available. IAS was offered to patients with highly active renal disease when conventional therapy had failed. Eleven patients entered the prolonged IAS programme and were followed for up to 10 years (mean 6.4 ± 3.5). Efficacy of IAS was determined by reduction in proteinuria (primary outcome), global disease activity [SLE Disease Activity Index (SLEDAI)] and anti-double-stranded DNA (anti-dsDNA) levels (secondary outcomes). Full/partial remission was defined as ≤ 0.5/≤ 1.0 g/day for proteinuria, ≤ 5/≤ 8 for SLEDAI and ≤ 25/≤ 50 IU/mL for anti-dsDNA levels. We further assessed flares, infections, malignancies and procedure-related adverse events. Short-term IAS (≤ 1 year) resulted in a significant reduction of proteinuria (9.2 ± 3.7 to 2.3 ± 2.4, P = 0.0001), disease activity (SLEDAI 19 ± 8 to 4 ± 2, P = 0.0004) and dsDNA levels (168 ± 205 to 45 ± 34, P = 0.001). In patients without remission after 1 year (n = 5), prolonged IAS decreased proteinuria from 4.3 ± 2.4 to 0.5 ± 0.4 g/day, P = 0.02. At the end of observation, complete remission in proteinuria was achieved in seven patients (64%) and partial remission in two (18%) additional patients. One patient flared and was discontinued; in all other patients, disease activity and anti-dsDNA stabilized at remission levels. Flares (0.28 ± 0.30) and infections (0.66 ± 0.70 per patient/year) were relatively uncommon; no malignancies, anaphylactic or orthostatic adverse events were observed. IAS is effective in short-term use but prolonged IAS can provide additional therapeutic benefit while showing an acceptable safety profile. The vast majority of initially therapy-refractory patients met the remission criteria at the end of observation.

The natural history of Stevens–Johnson syndrome: patterns of chronic ocular disease and the role of systemic immunosuppressive therapy

PubMed Central

De Rojas, M Victoria; Dart, John K G; Saw, Valerie P J

2007-01-01

Objective To characterize patterns of chronic ocular disease in patients with Stevens–Johnson syndrome (SJS) and its variant toxic epidermal necrolysis (TEN), and to describe their response to treatment. Methods Retrospective case series. A review of hospital records of 30 patients (60 eyes) with ocular manifestations of SJS or TEN was carried out. The principal outcome measure was to identify and classify the patterns of chronic ocular disease in SJS and TEN. The secondary outcome measure was the response to treatment. Results Patterns of chronic ocular disease observed after the acute episode included: mild/moderate SJS, severe SJS, ocular surface failure (SJS‐OSF), recurrent episodic inflammation (SJS‐RI), scleritis (SJS‐S) and progressive conjunctival cicatrisation resembling mucous membrane pemphigoid (SJS‐MMP). The median follow‐up was 5 years (range 0–29). 19 patients (29 eyes (48%)) developed SJS‐OSF, SJS‐RI, SJS‐S or SJS‐MMP during follow‐up. SJS‐OSF was present in 12 patients (18 eyes (30%)). In 5 patients (eight eyes) this developed 1 year after the acute illness, without any further inflammatory episodes; it was associated with SJS‐RI in 1 patient (2 eyes), with SJS‐RI and SJS‐S in 1 patient (1 eye), with SJS‐S in 1 patient (1 eye) and with SJS‐MMP in 4 patients (6 eyes). Episodes of SJS‐RI occurred in 4 patients (7 eyes (12%)). The median time from acute disease to the first episode of SJS‐RI was 8.5 years (range 5–63). SJS‐S developed in 2 patients (4 eyes (7%)), of which 2 eyes subsequently developed SJS‐OSF. SJS‐MMP developed in 5 patients (10 eyes (16.6%)). The median duration from the acute stage to the diagnosis of SJS‐MMP was 2 years (range 1–14). Immunosuppressive therapy successfully controlled inflammation in 10/10 patients with SJS‐MMP, SJS‐RI or SJS‐S. Conclusion Ocular disease in SJS/TEN is not limited solely to the sequelae of the acute phase illness. Patients and physicians need to know that ocular disease progression, due to surface failure and/or acute inflammatory conditions, may occur at variable periods following the acute disease episode. Recognition of this, and prompt access to specialist services, may optimise management of these uncommon patterns of disease in SJS. PMID:17314145

New Insights Into Pathophysiology, Diagnosis, and Treatment of Renovascular Hypertension.

PubMed

Samadian, Fariba; Dalili, Nooshin; Jamalian, Ali

2017-03-01

Renovascular disease includes renal artery stenosis, renovascular hypertension, and azotemic renovascular disease (ischemic nephropathy). Renovascular hypertension is defined as an elevated blood pressure caused by renal hypoperfusion, usually resulting from anatomic stenosis of the renal artery and activation of the renin-angiotensin system. It accounts for 1% to 2 % of all cases of hypertension in the general population and 5.8 % of secondary hypertension, but it plays a major role in treatable causes of hypertension in the young individuals. Although renovascular stenosis is a common and progressive disease in patients with atherosclerosis, it is a relatively uncommon cause of hypertension in patients with mild hypertension. In contrast, renal artery stenosis is more frequent in certain high-risk populations. Early diagnosis of renovascular hypertension and timely implementation of appropriate therapeutic procedures ensures optimum control of blood pressure, prevents ischemic nephropathy progression, and prevents the development of cardiovascular morbidity and mortality in the hypertensive patient population. As with most complex disorders, management decisions must be highly individualized for patients with renovascular disease. It is essential to consider renal arterial disease as one aspect of atherosclerotic disease.

Catastrophic antiphospholipid syndrome: a clinical review.

PubMed

Nayer, Ali; Ortega, Luis M

2014-01-01

Catastrophic antiphospholipid syndrome (CAPS) is a rare life-threatening autoimmune disease characterized by disseminated intravascular thrombosis resulting in multiorgan failure. Directory of Open Access Journals (DOAJ), Google Scholar, PubMed (NLM), LISTA (EBSCO) and Web of Science have been searched. CAPS is due to antiphospholipid antibodies directed against a heterogeneous group of proteins that are associated with phospholipids. These autoantibodies activate endothelial cells, platelets, and immune cells, thereby promoting a proinflammatory and prothrombotic phenotype. Furthermore, antiphospholipid antibodies inhibit anticoagulants, impair fibrinolysis, and activate complements. Although CAPS can affect a variety of organs and tissues, the kidneys, lungs, central nervous system, heart, skin, liver, and gastrointestinal tract are most commonly affected. The systemic inflammatory response syndrome, likely to extensive tissue damage, accompanies CAPS. The most frequent renal manifestations are hypertension, proteinuria, hematuria, and acute renal failure.In the majority of patients with CAPS, a precipitating factor such as infection, surgery, or medication can be identified. Antiphospholipid antibodies such as lupus anticoagulant and antibodies against cardiolipin, β2-glycoprotein I, and prothrombin are serological hallmark of CAPS. Laboratory tests often reveal antinuclear antibodies, thrombocytopenia, and anemia. Despite widespread intravascular coagulation, blood films reveal only a small number of schistocytes. In addition, severe thrombocytopenia is uncommon. Histologically, CAPS is characterized by acute thrombotic microangiopathy. CAPS must be distinguished from other forms of thrombotic microangiopathies such as hemolytic-uremic syndrome, thrombotic thrombocytopenic purpura, disseminated intravascular coagulation, and heparin-induced thrombocyt openia. CAPS is associated with high morbidity and mortality. Therefore, an aggressive multidisciplinary treatment strategy is indicated. Anticoagulation, immunosuppression, plasma exchange, intravenous immunoglobulins, and anti-platelet agents, used in various combinations, have resulted in improved patient outcome.

Drug-induced lupus erythematosus.

PubMed

Marzano, A V; Tavecchio, S; Menicanti, C; Crosti, C

2014-06-01

Drug-induced lupus erythematosus (DI-LE) is defined as an entity characterized by clinical manifestations and immunopathological serum findings similar to those of idiopathic lupus but which is temporally related to drug exposure and resolves after withdrawal of the implicated drug. Similarly to idiopathic lupus, DI-LE can be divided into systemic LE, subacute cutaneous LE (SCLE), chronic cutaneous LE (CCLE) and cutaneous LE tumidus. DI-SCLE is the most frequent variant of drug-induced cutaneous LE and presents mainly with annular-polycyclic lesions; the clinical picture is often widespread, with involvement of the lower legs that are usually spared in idiopathic SCLE. ANA and anti-Ro/SSA antibodies are typically present, whereas antihistone antibodies are uncommonly found. We have recently addressed the question whether DI-SCLE differs significantly from its idiopathic counterpart by virtue of clinical features and, based on our findings, we have suggested that the frequent occurrence of malar rash and bullous, erythema multiforme-like and vasculitic manifestations can be regarded as the hallmark of DI-SCLE. In contrast, the histology is not a useful diagnostic criterion for DI-SCLE, considering that the typical pattern of lichenoid interface dermatitis is seen only in the early stage of disease and tissue eosinophilia does not represent a differentiating histopathological feature. DI-CCLE and DI-LE tumidus, albeit possibly misdiagnosed, are rarely observed and are characterized by classic discoid lesions and erythematous-oedematous plaques on sun exposed areas, respectively. Management of DI-LE is based on the discontinuation of the offending drug; topical and/or systemic corticosteroids and other immunomodulating/immunosuppressive agents should be reserved for resistant cases.

Ahmad al-Damanhūrī (1689-1778) and the utility of expertise in early modern Ottoman Egypt.

PubMed

Murphy, Jane H

2010-01-01

Eighteenth-century Arabic manuscripts in the "uncommon sciences"--a range of mathematical, astronomical, astrological, medical, and divinatory practices-number in the thousands. In light of the economic and social upheaval over the eighteenth century this sustained production must be understood from perspectives of both intellectual and social history. Ahmad al-Damanhūrī's writings and his rise from rural orphan to head of al-Azhar Mosque suggest the role and value of expertise in the uncommon sciences, particularly as these fields brought religious scholars and ruling military elites into close relations. Precisely because the uncommon sciences bridged these two social classes, this expertise was important for individuals' social and intellectual formation. Recognizing the significance of the uncommon sciences for the history of this period offers a new reading of the work of the chronicler 'Abd al-Rahmān al-Jabartī, who used language and exemplars from the uncommon sciences to reflect on the proper and just relationship between expertise (embodied by the religious scholarly class) and the emerging state.

Dedifferentiated chondrosarcoma of the larynx: Radiological, gross, microscopic and clinical features.

PubMed

Magliocca, Kelly R; Edgar, Mark A; Corey, Amanda; Villari, Craig R

2017-10-01

Laryngeal chondrosarcoma is an uncommon malignancy with a predilection for the cricoid cartilage of adult male patients. Although rare, identification of aggressive chondrosarcoma variants, such as dedifferentiated chondrosarcoma (DDCS) may influence preoperative patient counseling, definitive surgical management, potential implementation of post-operative adjuvant therapy and prognosis. Herein we describe clinical and imaging features of laryngeal DDCS, the unique perspective of fresh and formalin fixed macroscopic examination, a spectrum of histopathologic findings, and detail the full course of the patient's disease. Copyright © 2017 Elsevier Inc. All rights reserved.

Spinal epidural abscess: Report on 27 cases

PubMed Central

Khursheed, Nayil; Dar, Sultan; Ramzan, Altaf; Fomda, Bashir; Humam, Nisar; Abrar, Wani; Singh, Sarbjit; Sajad, Arif; Mahek, Masood; Yawar, Shoaib

2017-01-01

Background: Spinal epidural abscess, although an uncommon disease, often correlates with a high morbidity owing to significant delay in diagnosis. Methods: In a prospective 5-year study, the clinical and magnetic resonance (MR) findings, treatment protocols, microbiology, and neurological outcomes were analyzed for 27 patients with spinal epidural abscess. Results: Patients were typically middle-aged with underlying diabetes and presented with lumbar abscesses. Those undergoing surgical intervention >36 h after the onset of symptoms had poor neurological outcomes. Conclusion: Early recognition and timely evacuation of spinal abscesses minimized neurological morbidity and potential mortality. PMID:29026676

Spinal epidural abscess: Report on 27 cases.

PubMed

Khursheed, Nayil; Dar, Sultan; Ramzan, Altaf; Fomda, Bashir; Humam, Nisar; Abrar, Wani; Singh, Sarbjit; Sajad, Arif; Mahek, Masood; Yawar, Shoaib

2017-01-01

Spinal epidural abscess, although an uncommon disease, often correlates with a high morbidity owing to significant delay in diagnosis. In a prospective 5-year study, the clinical and magnetic resonance (MR) findings, treatment protocols, microbiology, and neurological outcomes were analyzed for 27 patients with spinal epidural abscess. Patients were typically middle-aged with underlying diabetes and presented with lumbar abscesses. Those undergoing surgical intervention >36 h after the onset of symptoms had poor neurological outcomes. Early recognition and timely evacuation of spinal abscesses minimized neurological morbidity and potential mortality.