Late onset depression: A recent update

Directory of Open Access Journals (Sweden)

Ananya Mahapatra

2015-01-01

Full Text Available Late onset depression has recently emerged as a serious mental health issue in the geriatric population with significant public health implications. It is often challenging to diagnose and treat this entity. Various theories have been postulated to elucidate the etiology of late onset depression, but a unifying hypothesis is lacking. Although the vascular hypothesis is most researched; a complex interaction of multiple vulnerability factors is the current focus of attention. Numerous psychosocial variables have been implicated to play a significant role in predicting the onset and severity of late-life depression. Phenomenological differences have been delineated from depression occurring at a younger age, but the findings are equivocal. A better understanding of the natural trajectory of depression in the elderly is required for early diagnosis and effective treatment. This review attempts to summarize the current status of evidence regarding epidemiology, etiology, clinical features, and treatment options available for late-onset depression.

Principles of Periocular Reconstruction following Excision of Cutaneous Malignancy

International Nuclear Information System (INIS)

Hayano, S. M.; Whipple, K. M.; Korn, B. S.; Kikkawa, D. O.

2012-01-01

Reconstruction of periocular defects following excision of cutaneous malignancy can present difficulties for oculofacial and reconstructive surgeons. The intricate anatomy of the eyelids and face requires precise restoration in order to avoid postoperative functional anesthetic concerns. Various reconstructive procedures based on common principles, location and size of the defect, can be applied to achieve restoration with the best possible functional and aesthetic outcomes.

Late onset globoid cell leukodystrophy.

OpenAIRE

Grewal, R P; Petronas, N; Barton, N W

1991-01-01

A 29 year old male with onset of globoid cell leukodystrophy at age 14 is described. This is the first case of enzymatically confirmed globoid cell leukodystrophy with onset of symptoms after the age of ten. This patient is unique because of the late onset and slow progression and extends the clinical spectrum of globoid cell leukodystrophy.

Late onset globoid cell leukodystrophy.

Science.gov (United States)

Grewal, R P; Petronas, N; Barton, N W

1991-11-01

A 29 year old male with onset of globoid cell leukodystrophy at age 14 is described. This is the first case of enzymatically confirmed globoid cell leukodystrophy with onset of symptoms after the age of ten. This patient is unique because of the late onset and slow progression and extends the clinical spectrum of globoid cell leukodystrophy.

Principles of Periocular Reconstruction following Excision of Cutaneous Malignancy

Directory of Open Access Journals (Sweden)

Scott M. Hayano

2012-01-01

Full Text Available Reconstruction of periocular defects following excision of cutaneous malignancy can present difficulties for oculofacial and reconstructive surgeons. The intricate anatomy of the eyelids and face requires precise restoration in order to avoid postoperative functional anesthetic concerns. Various reconstructive procedures based on common principles, location and size of the defect, can be applied to achieve restoration with the best possible functional and aesthetic outcomes.

Downregulation of miR-125b in metastatic cutaneous malignant melanoma.

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Glud, Martin; Rossing, Maria; Hother, Christoffer; Holst, Line; Hastrup, Nina; Nielsen, Finn C; Gniadecki, Robert; Drzewiecki, Krzysztof T

2010-12-01

This study aimed to identify microRNA species involved in the earliest metastatic event in cutaneous malignant melanoma (MM). Samples from 28 patients with MM [stage T2 (tumor), M0 (distant metastasis)] were grouped by the presence of micrometastasis in the sentinel lymph nodes (N0/N1). Melanoma cells were harvested from primary, cutaneous MM tumors by laser-capture microdissection, and microRNA expression profiles were obtained by the microarray technique. Results were validated by quantitative reverse transcription PCR. We found that miR-125b was downregulated in the primary cutaneous melanomas that produced early metastases (T2, N1, M0) compared with the sentinel lymph node-negative (T2, N0, M0) melanomas. MiR-125b has earlier been found to be downregulated in other tumor types and in atypic naevi compared with the common acquired naevi. In conclusion, miR-125b may be involved in an early progression of cutaneous MM.

The Spectrum of Paraneoplastic Cutaneous Vasculitis in a Defined Population

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Loricera, Javier; Calvo-Río, Vanesa; Ortiz-Sanjuán, Francisco; González-López, Marcos A.; Fernández-Llaca, Hector; Rueda-Gotor, Javier; Gonzalez-Vela, Maria C.; Alvarez, Lino; Mata, Cristina; González-Lamuño, Domingo; Martínez-Taboada, Victor M.; González-Gay, Miguel A.; Blanco, Ricardo

2013-01-01

Abstract Cutaneous vasculitis may be associated with malignancies, and may behave as a paraneoplastic syndrome. This association has been reported in a variable proportion of patients depending on population selection. We conducted the current study to assess the frequency, clinical features, treatment, and outcome of paraneoplastic vasculitis in a large unselected series of 766 patients with cutaneous vasculitis diagnosed at a single university hospital. Sixteen patients (10 men and 6 women; mean age ± standard deviation, 67.94 ± 14.20 yr; range, 40–85 yr) presenting with cutaneous vasculitis were ultimately diagnosed as having an underlying malignancy. They constituted 3.80% of the 421 adult patients. There were 9 hematologic and 7 solid underlying malignancies. Skin lesions were the initial clinical presentation in all of them, and the median interval from the onset of cutaneous vasculitis to the diagnosis of the malignancy was 17 days (range, 8–50 d). The most frequent skin lesions were palpable purpura (15 patients). Other clinical manifestations included constitutional syndrome (10 patients) and arthralgia and/or arthritis (4 cases). Hematologic cytopenias (11 cases) as well as immature peripheral blood cells (6 cases) were frequently observed in the full blood cell count, especially in those with vasculitis associated with hematologic malignancies. Specific treatment for vasculitis was prescribed in 10 patients; nonsteroidal antiinflammatory drugs (4 patients), corticosteroids (3 patients), chloroquine (1 patient), antihistamines (1 patient), and cyclophosphamide (1 patient). Ten patients died due to the malignancy and 6 patients recovered following malignancy therapy. Patients with paraneoplastic vasculitis were older, more frequently had constitutional syndrome, and less frequently had organ damage due to the vasculitis than the remaining patients with cutaneous vasculitis. In summary, cutaneous paraneoplastic vasculitis is an entity not uncommonly

Late-onset CMV disease following CMV prophylaxis.

LENUS (Irish Health Repository)

Donnelly, C

2012-02-01

BACKGROUND: Cytomegalovirus (CMV) is the most common opportunistic infection after solid-organ transplantation, increasing morbidity and mortality. Three months of oral valganciclovir have been shown to provide effective prophylaxis. Late-onset CMV disease, occurring after the discontinuation of prophylaxis, is now increasingly recognised. AIMS: To investigate the incidence and the time of detection of CMV infections in liver transplant recipients who received CMV prophylaxis. METHODS: Retrospective review of 64 high- and moderate-risk patients with 1 year of follow-up. RESULTS: The incidence of CMV infection was 12.5%, with 4.7% disease. All cases of symptomatic CMV disease were of late-onset. CONCLUSIONS: The incidence of CMV infections in this study was low compared with literature reports; however, the late-onset disease is an emerging problem. Detection of late-onset disease may be delayed because of less frequent clinic follow-up visits. Increased regular laboratory monitoring may allow earlier detection at the asymptomatic infection stage.

Progression of Late-Onset Stargardt Disease

OpenAIRE

Lambertus, Stanley; Lindner, Moritz; Bax, Nathalie M.; Mauschitz, Matthias M.; Nadal, Jennifer; Schmid, Matthias; Schmitz-Valckenberg, Steffen; den Hollander, Anneke I.; Weber, Bernhard H. F.; Holz, Frank G.; van der Wilt, Gert Jan; Fleckenstein, Monika; Hoyng, Carel B.

2016-01-01

Purpose: Identification of sensitive biomarkers is essential to determine potential effects of emerging therapeutic trials for Stargardt disease. This study aimed to describe the natural history of late-onset Stargardt, and demonstrates the accuracy of retinal pigment epithelium (RPE) atrophy progression as an outcome measure. Methods: We performed a retrospective cohort study collecting multicenter data from 47 patients (91 eyes) with late-onset Stargardt, defined by clinical phenotype...

Late Onset Bipolar Disorder: Case Report

Directory of Open Access Journals (Sweden)

Filipa Araújo

2016-07-01

Full Text Available Background: Bipolar disorder affects approximately 1% of the population, with diagnosis often being made during late adolescence and early adulthood, and only rarely (0.1% in the elderly. Late onset bipolar disorder in the elderly has a impact on the nature and course of bipolar disorder. Aims: The authors report a case of bipolar disorder emerging in late life  (76years old with no cleary identified organic cause. Conclusion: This case highlights the importance of a broad differential diagnosis and pharmacologic management when approaching new-onset manic/depressive symptoms among geriatric patients.

Cutaneous Adverse Events of Targeted Therapies for Hematolymphoid Malignancies.

Science.gov (United States)

Ransohoff, Julia D; Kwong, Bernice Y

2017-12-01

The identification of oncogenic drivers of liquid tumors has led to the rapid development of targeted agents with distinct cutaneous adverse event (AE) profiles. The diagnosis and management of these skin toxicities has motivated a novel partnership between dermatologists and oncologists in developing supportive oncodermatology clinics. In this article we review the current state of knowledge of clinical presentation, mechanisms, and management of the most common and significant cutaneous AEs observed during treatment with targeted therapies for hematologic and lymphoid malignancies. We systematically review according to drug-targeting pathway the cutaneous AE profiles of these drugs, and offer insight when possible into whether pharmacologic target versus immunologic modulation primarily underlie presentation. We include discussion of tyrosine kinase inhibitors (imatinib, dasatinib, nilotinib, bosutinib, ponatinib), blinatumomab, ibrutinib, idelalisib, anti-B cell antibodies (rituximab, ibritumomab, obinutuzumab, ofatumumab, tositumomab), immune checkpoint inhibitors (nivolumab, pembrolizumab), alemtuzumab, brentuximab, and proteasome inhibitors (bortezomib, carfilzomib, ixazomib). We highlight skin reactions seen with antiliquid but not solid tumor agents, draw attention to serious cutaneous AEs that might require therapy modification or cessation, and offer management strategies to permit treatment tolerability. We emphasize the importance of early diagnosis and treatment to minimize disruptions to care, optimize prognosis and quality of life, and promptly address life-threatening skin or infectious events. This evolving partnership between oncologists and dermatologists in the iterative characterization and management of skin toxicities will contribute to a better understanding of these drugs' cutaneous targets and improved patient care. Copyright © 2017 Elsevier Inc. All rights reserved.

The clinical features of late onset anorexia nervosa.

OpenAIRE

Joughin, N. A.; Crisp, A. H.; Gowers, S. G.; Bhat, A. V.

1991-01-01

This study examines clinical features of late onset anorexia nervosa. This involved the scrutiny of a large database of patients with anorexia nervosa comprising data gathered at standardized initial assessments over the period 1960-1990. Patients with a late onset were compared to other selected patient samples. The population comprised 12 patients with a first onset of anorexia nervosa at or after the age of 30, 415 patients with an onset after 15 but before 20 and 9 patients with an onset ...

Late onset endophthalmitis

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Abdulaziz AlHadlaq

2016-04-01

Full Text Available We report an extremely rare presentation of late-onset endophthalmitis in a young adult patient with an unexposed Ahmed tube implant. The implant was inserted 11 years prior to presentation. There was no history of trauma or any obvious exposure on clinical examination and the tube plate was filled with purulent material. After aqueous and vitreous tap, the patient underwent intracameral, intravitreal subconjunctival antibiotic injections and was started on systemic antibiotics with good response. Endophthalmitis associated with tube drainage device can present as late as 11 years and even without an unexposed tube.

The neuropsychology and neurobiology of late-onset schizophrenia and very-late-onset schizophrenia-like psychosis : a critical review

OpenAIRE

Assche, Van, Lies; Morrens, Manuel; Luyten, Patrick; Ven, Van de, Luc; Vandenbulcke, Mathieu

2017-01-01

Abstract: OBJECTIVE: The current review discusses neuropsychological profiles and the longitudinal course of cognitive dysfunction in Late Onset Schizophrenia (LOS) and Very-late-onset schizophrenia-like psychosis (VLOSLP), and attempts to clarify its neurobiological underpinnings. METHOD: A systematic literature search resulted in 29 publications describing original research on the neuropsychology of LOS/VLOSLP and 46 studies focussing on neurobiology. RESULTS: Although mildly progressive co...

Late-onset ADHD in adults: milder, but still dysfunctional.

Science.gov (United States)

Karam, Rafael G; Bau, Claiton H D; Salgado, Carlos A I; Kalil, Katiane L S; Victor, Marcelo M; Sousa, Nyvia O; Vitola, Eduardo S; Picon, Felipe A; Zeni, Gregory D; Rohde, Luis A; Belmonte-de-Abreu, Paulo; Grevet, Eugenio H

2009-04-01

The requirement in classificatory systems that some impairment from attention-deficit/hyperactivity disorder (ADHD) symptoms starts before 7 years of age (age of onset of impairment criteria - AOC) has been harshly criticized. Although there is evidence that late-onset ADHD is a valid diagnosis, little is known about the role of age of onset of impairment on the clinical profile of adult patients. The diagnoses of 349 adults with ADHD followed DSM-IV criteria. ADHD and oppositional defiant disorder (ODD) were evaluated with the K-SADS-E, and other comorbidities with the SCID-IV and the MINI. Subjects were divided in early and late-onset groups (age of onset of impairment between 7 and 12 years old). The effect of age of onset over clinical and demographic characteristics was tested by regression models. Late-onset subjects were diagnosed later (P=0.04), had a lower frequency of problems with authority and discipline (P=0.004), and lower scores in SNAP-IV (Pactivities (P=0.03). On the other hand, late-onset patients presented a higher prevalence of comorbid general anxiety disorder (GAD) (P=0.01). Both groups had a similar profile in the remaining comorbidities and sociodemographic characteristics. This study provides initial evidence that adults with late-onset ADHD have less severity, lower frequency of externalizing symptoms and increased comorbidity with GAD, but similar profile in other comorbidities. In addition, the data suggest that late-onset patients have a higher probability of delayed diagnosis despite the significant impairment of their condition.

Hypothyroidism in late-onset Pompe disease.

Science.gov (United States)

Schneider, Joseph; Burmeister, Lynn A; Rudser, Kyle; Whitley, Chester B; Jarnes Utz, Jeanine

2016-09-01

In Pompe disease, a deficiency of acid α-glucosidase enzyme activity leads to pathologic accumulation of glycogen in tissues. Phenotype heterogeneity in Pompe includes an infantile form and late-onset forms (juvenile- and adult-onset forms). Symptoms common to all phenotypes include progressive muscle weakness and worsening respiratory function. Patients with late-onset forms of Pompe disease commonly complain of chronic fatigue and generalized muscle weakness prior to being diagnosed with Pompe disease, and this may lead to consideration of hypothyroidism in the differential diagnosis. This study aimed to evaluate the prevalence of hypothyroidism in the adult-onset form of Pompe disease. Electronic chart review was performed at the Advanced Therapies Clinic at the University of Minnesota Medical Center (UMMC) to identify patients with late-onset Pompe disease. The identified charts were reviewed for a co-diagnosis of hypothyroidism. A query was made to the clinical data repository at UMMC searching diagnosis ICD9 code 244.9 (hypothyroidism not otherwise specified) and/or presence of levothyroxine from 2011 to 2014 in patients 18 years of age and older. The clinical data repository found a prevalence of hypothyroidism of 3.15% (56,072 of 1,782,720 patients) in the adult patient population at UMMC. Ten adult patients with Pompe disease were identified, five with the diagnosis of hypothyroidism (50%, 95% CI: 23.7, 76.3, p Hypothyroidism was found at a higher prevalence in patients with late-onset Pompe disease compared to the general adult population at UMMC. Studies in larger populations of patients with Pompe disease would be needed to confirm an association of Pompe disease and hypothyroidism. Challenges include finding an adequate sample size, due the rarity of Pompe disease.

Sun behaviour after cutaneous malignant melanoma

DEFF Research Database (Denmark)

Idorn, L W; Datta, P; Heydenreich, J

2013-01-01

Background  It has been reported that patients with cutaneous malignant melanoma (CMM) can lower their risk of a second primary melanoma by limiting recreational sun exposure. Previous studies based on questionnaires and objective surrogate measurements indicate that before their diagnosis......, patients with CMM are exposed to higher ultraviolet radiation (UVR) doses than controls, followed by a reduction after diagnosis. Objectives  In a prospective, observational case-control study, we aimed to assess sun exposure after diagnosis of CMM by objective measurements to substantiate advice about sun...... months and 6 years before the start of the study. During a summer season participants filled in sun exposure diaries daily and wore personal electronic UVR dosimeters in a wristwatch that continuously measured time-stamped UVR doses in standard erythema dose. Results  The UVR dose of recently diagnosed...

Cutaneous Mycobacterium abscessus Infection Associated with Mesotherapy Injection.

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Wongkitisophon, Pranee; Rattanakaemakorn, Ploysyne; Tanrattanakorn, Somsak; Vachiramon, Vasanop

2011-02-18

Non-tuberculous mycobacterial skin infections have an increasing incidence. In immunocompetent patients, they usually follow local trauma. We present a case of cutaneous Mycobacterium abscessus infection following mesotherapy. The lesions were successfully treated with a combination of clarithromycin, ciprofloxacin, and doxycycline. Atypical mycobacterial infection should be suspected in patients who develop late-onset skin and soft tissue infection after cutaneous injury, injection, and surgical intervention, particularly if they do not respond to conventional antibiotic treatment.

Late-onset pathological gambling: clinical correlates and gender differences.

Science.gov (United States)

Grant, Jon E; Kim, Suck Won; Odlaug, Brian L; Buchanan, Stephanie N; Potenza, Marc N

2009-01-01

Age at illness onset has significant clinical implications for psychiatric disorders. Prior research has not systematically examined age at illness onset and its relationship to the clinical characteristics of pathological gambling (PG). Among a sample of 322 consecutive subjects with current DSM-IV PG, those with late-onset (at or after age 55 years) PG were compared to those with earlier onsets (at or prior to age 25, 26-54 years old) on measures of PG severity, co-occurring disorders, social and legal problems, and family history. Forty-two (13.4%) subjects reported onset of PG at or after age 55 years, 63 (19.6%) reported onset prior to age 25 years, and the majority (n=217; 67.4%) reported onset between the ages of 26 and 54 years. The late-onset group were less likely to declare bankruptcy (p=.029) or have credit card debt attributable to gambling (p=.006). Late-onset PG subjects were significantly more likely to have an anxiety disorder (pgambling problem. Exploratory analyses identified an age-by-gender interaction with respect to treatment-seeking, with more pronounced age-related shortening in the duration between problem onset and treatment seeking observed in men. Age at onset of PG is associated with multiple important clinical features. Long durations of PG prior to treatment-seeking indicate the need for improved prevention efforts among individuals with early PG onset. Late-onset PG is relatively common and has distinct clinical characteristics suggesting that this population might benefit from unique prevention and treatment strategies.

Cutaneous Mycobacterium abscessus Infection Associated with Mesotherapy Injection

Directory of Open Access Journals (Sweden)

Pranee Wongkitisophon

2011-02-01

Full Text Available Non-tuberculous mycobacterial skin infections have an increasing incidence. In immunocompetent patients, they usually follow local trauma. We present a case of cutaneous Mycobacterium abscessus infection following mesotherapy. The lesions were successfully treated with a combination of clarithromycin, ciprofloxacin, and doxycycline. Atypical mycobacterial infection should be suspected in patients who develop late-onset skin and soft tissue infection after cutaneous injury, injection, and surgical intervention, particularly if they do not respond to conventional antibiotic treatment.

A case of late-onset oligomeganephronia

Directory of Open Access Journals (Sweden)

Rafael José Vargas Alves

2012-12-01

Full Text Available A 33-year old caucasian man was investigated for pain in the right flank, proteinuria, hemathuria and an elevated serum creatinine level. He also presented an abnormal ultrasonography, which revealed asymmetric kidneys. Through renal biopsy, the diagnosis of oligomeganephronia (OMN was confirmed. OMN is a very rare form of renal hypoplasia, and late-onset in adulthood is even rarer. In the pediatric population, OMN leads to end-stage-renal-failure(ESRF in a few years. This is the sixth case related in the literature of a late-onset OMN who have not yet developed ESRF.

Mouse papillomavirus infections spread to cutaneous sites with progression to malignancy.

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Cladel, Nancy M; Budgeon, Lynn R; Cooper, Timothy K; Balogh, Karla K; Christensen, Neil D; Myers, Roland; Majerciak, Vladimir; Gotte, Deanna; Zheng, Zhi-Ming; Hu, Jiafen

2017-09-25

We report secondary cutaneous infections in the mouse papillomavirus (MmuPV1)/mouse model. Our previous study demonstrated that cutaneous MmuPV1 infection could spread to mucosal sites. Recently, we observed that mucosal infections could also spread to various cutaneous sites including the back, tail, muzzle and mammary tissues. The secondary site lesions were positive for viral DNA, viral capsid protein and viral particles as determined by in situ hybridization, immunohistochemistry and transmission electron microscopy analyses, respectively. We also demonstrated differential viral production and tumour growth at different secondarily infected skin sites. For example, fewer viral particles were detected in the least susceptible back tissues when compared with those in the infected muzzle and tail, although similar amounts of viral DNA were detected. Follow-up studies demonstrated that significantly lower amounts of viral DNA were packaged in the back lesions. Lavages harvested from the oral cavity and lower genital tracts were equally infectious at both cutaneous and mucosal sites, supporting the broad tissue tropism of this papillomavirus. Importantly, two secondary skin lesions on the forearms of two mice displayed a malignant phenotype at about 9.5 months post-primary infection. Therefore, MmuPV1 induces not only dysplasia at mucosal sites such as the vagina, anus and oral cavity but also skin carcinoma at cutaneous sites. These findings demonstrate that MmuPV1 mucosal infection can be spread to cutaneous sites and suggest that the model could serve a useful role in the study of the viral life cycle and pathogenesis of papillomavirus.

Is late-onset OCD a distinct phenotype? Findings from a comparative analysis of "age at onset" groups.

Science.gov (United States)

Sharma, Eesha; Sundar, A Shyam; Thennarasu, Kandavel; Reddy, Y C Janardhan

2015-10-01

Significant differences in clinical profile and comorbidity patterns have been observed between "juvenile-onset" and "adult-onset" obsessive-compulsive disorder (OCD). There is little systematic research on onset of OCD after the fourth decade. The current study aims to compare the demographic, clinical, and comorbidity patterns of patients with "juvenile-onset" (OCD. Eight hundred two consecutive patients who consulted a specialty OCD clinic at a tertiary care hospital in India were evaluated with the Mini International Neuropsychiatric Interview, the Yale-Brown Obsessive-Compulsive Scale, and the Clinical Global Impression scale. 37.4%, 57.4%, and 5.2% of patients had juvenile-, adult-, and late-onset OCD, respectively. Late-onset OCD was associated with female gender (χ2=42, pOCD in first-degree relatives (χ2=20.4, pOCD was significantly associated with female gender, collecting compulsions, and less aggressive obsessions, in comparison with adult-onset OCD. In comparison with juvenile-onset, late-onset OCD was significantly associated with female gender, presence of precipitating factors, and less aggressive obsessions, sexual obsessions, and repeating compulsions. Late-onset OCD is characterized by female gender, lesser familial loading for OCD, and presence of precipitating factors, suggesting that it may have a distinct pathophysiology compared to juvenile- and adult-onset OCD. Systematic research is required to understand the family-genetic, neuropsychological, and neurobiological correlates of late-onset OCD.

Computed tomography of late-onset epilepsy

International Nuclear Information System (INIS)

Kim, Young Sik; Im, Jae Yung; Joo, Yang Goo; Park, Sam Kyoon

1982-01-01

Epilepsy can be divided into idiopathic epilepsy and symptomatic epilepsy according to the existence of underlying organic brain disease. It has been said that the incidence of the symptomatic epilepsy caused by underlying organic brain disease is higher in late-onset epilepsy after the age of 20 than in childhood-onset epilepsy. CT is very sensitive and non-invasive method for detection of organic brain disease. 168 cases of late-onset epilepsy after the age of of 20 were studied by CT in recent 2 years were analyzed. The results were as follows: 1. The 3rd decade was the most frequent age group, and the ratio of male to female was 2.5 : 1. 2. Structural abnormality on brain CT was demonstrated in 51.8% of the patient. 3. The older onset of age was, the higher the ratio of abnormal CT findings, except 5th decade which showed less CT abnormality than 4th decade. 4. The most frequent history related to epilepsy was trauma. 63.1% of patients had no relevant history: and they showed CT findings of brain tumor, atrophy and infraction in decreasing order of frequency. 5. Abnormal CT findings was demonstrated in 49.2% of normal neurologic examination and in 46.4% of normal EEG study. 6. The most frequent lesion of abnormal CT scan in late-onset epilepsy was 30 cases (18.4%) of brain atrophy. The next frequent lesion was 18 cases (10.7%) of brain tumor. Infarction, parasites and calcification were other frequent lesions

Diabetes mellitus is associated with late-onset post-stroke depression.

Science.gov (United States)

Zhang, Yu; He, Ji-Rong; Liang, Huai-Bin; Lu, Wen-Jing; Yang, Guo-Yuan; Liu, Jian-Rong; Zeng, Li-Li

2017-10-15

To explore the associated factors of late-onset post-stroke depression (PSD). A total of 251 patients with acute ischemic stroke were recruited. The evaluation of depression was performed 2 weeks after ischemia. 206 patients showing no depression in 2 weeks were followed up. They were divided into late-onset PSD group and non-depressed group by clinical interview with Hamilton depression scale score 3 months after stroke. On the first day following hospitalization, the clinical data including age, gender, educational level and vascular risk factors were recorded. The severity, etiological subtype and location of stroke were evaluated. The inflammatory mediators, glucose and lipid levels were recorded on the day of admission. The association between clinical factors and late-onset PSD was explored by logistic regression analysis. The ROC analysis was performed to evaluate the predicting power of the clinical factors. 187 of 206 patients completed the assessment 3 months after stroke. 19 (10.16%) patients were diagnosed as late onset PSD. Diabetes mellitus was an independent risk factor for late-onset PSD (OR 2.675, p = 0.047). ROC analysis demonstrated that glucose and HbA1C could predict late-onset PSD with specificity of 84.4%. The sample of our study was small. The results should be further confirmed in a larger cohort of patients with acute ischemic stroke. The acute ischemic stroke patients with diabetes mellitus were more tendered to suffer late-onset PSD. Copyright © 2017 Elsevier B.V. All rights reserved.

Does Late-onset Anorexia Nervosa Exist? Findings From a Comparative Study in Singapore.

Science.gov (United States)

Tan, Shian Ming; Kwok, Kah Foo Victor; Zainal, Kelly A; Lee, Huei Yen

2018-03-01

The incidence of cases of older onset anorexia nervosa (AN) has increased in recent years. However, the literature on late-onset AN has been inconclusive. The goal of this study was to compare late-onset with early-onset cases of AN. Cases of AN presenting to an eating disorders treatment service were identified and the associated medical records were studied retrospectively. Of the 577 cases of AN that were studied, 7.1% were late-onset. Unlike the early-onset cases of AN, the late-onset cases reported less teasing and more relationship problems as a trigger for the illness. They were also less likely to join the eating disorders treatment program. Otherwise, the late-onset AN cases were largely similar to the early-onset cases. Although differences exist between early-onset and late-onset cases of AN, these are few. Until stronger evidence emerges over time, there currently seems to be minimal justification to accord late-onset AN a unique position in psychiatric nosology.

Early Onset Malignancies - Genomic Study of Cancer Disparities

Science.gov (United States)

The Early Onset Malignancies Initiative studies the genomic basis of six cancers that develop at an earlier age, occur in higher rates, and are typically more aggressive in certain minority populations.

Late Onset Bipolar Disorder: Case Report

OpenAIRE

Filipa Araújo; Adriana Horta

2016-01-01

Background: Bipolar disorder affects approximately 1% of the population, with diagnosis often being made during late adolescence and early adulthood, and only rarely (0.1%) in the elderly. Late onset bipolar disorder in the elderly has a impact on the nature and course of bipolar disorder. Aims: The authors report a case of bipolar disorder emerging in late life  (76years old) with no cleary identified organic cause. Conclusion: This case highlights the importance of a broad different...

Dual-energy computed tomography in patients with cutaneous malignant melanoma: Comparison of noise-optimized and traditional virtual monoenergetic imaging.

Science.gov (United States)

Martin, Simon S; Wichmann, Julian L; Weyer, Hendrik; Albrecht, Moritz H; D'Angelo, Tommaso; Leithner, Doris; Lenga, Lukas; Booz, Christian; Scholtz, Jan-Erik; Bodelle, Boris; Vogl, Thomas J; Hammerstingl, Renate

2017-10-01

The aim of this study was to investigate the impact of noise-optimized virtual monoenergetic imaging (VMI+) reconstructions on quantitative and qualitative image parameters in patients with cutaneous malignant melanoma at thoracoabdominal dual-energy computed tomography (DECT). Seventy-six patients (48 men; 66.6±13.8years) with metastatic cutaneous malignant melanoma underwent DECT of the thorax and abdomen. Images were post-processed with standard linear blending (M_0.6), traditional virtual monoenergetic (VMI), and VMI+ technique. VMI and VMI+ images were reconstructed in 10-keV intervals from 40 to 100keV. Attenuation measurements were performed in cutaneous melanoma lesions, as well as in regional lymph node, subcutaneous and in-transit metastases to calculate objective signal-to-noise (SNR) and contrast-to-noise (CNR) ratios. Five-point scales were used to evaluate overall image quality and lesion delineation by three radiologists with different levels of experience. Objective indices SNR and CNR were highest at 40-keV VMI+ series (5.6±2.6 and 12.4±3.4), significantly superior to all other reconstructions (all Ptraditional VMI in patients with cutaneous malignant melanoma at thoracoabdominal DECT. Copyright © 2017 Elsevier B.V. All rights reserved.

Late malignant transformation of vestibular schwannoma in the absence of irradiation

DEFF Research Database (Denmark)

Bashir, Asma; Poulsgaard, Lars; Broholm, Helle

2016-01-01

Late malignant transformation of vestibular schwannoma (VS) following irradiation has previously been reported 29 times in the literature. Here, the authors report the first late malignant transformation of VS unrelated to neurofibromatosis or radiation exposure. After undergoing a near-total exc...

Early- versus Late-Onset Dysthymia: A Meaningful Clinical Distinction?

OpenAIRE

Sansone, Randy A.; Sansone, Lori A.

2009-01-01

In the current Diagnostic and Statistical Manual of Mental Disorders, dysthymic disorder is categorized as either early-onset or late-onset, based upon the emergence of symptoms before or after the age of 21, respectively. Does this diagnostic distinction have any meaningful clinical implications? In this edition of The Interface, we present empirical studies that have, within a single study, compared individuals with early-versus late-onset dysthymia. In this review, we found that, compared ...

Spotlighting the role of photodynamic therapy in cutaneous malignancy: an update and expansion.

Science.gov (United States)

Ross, Kate; Cherpelis, Basil; Lien, Mary; Fenske, Neil

2013-12-01

Topical photodynamic therapy (PDT) is an option for the treatment of cutaneous malignancy. To present an update and expansion on a previous review of the use of PDT in the current literature in the treatment of actinic keratoses (AK), superficial and nodular basal cell carcinoma (sBCC, nBCC), squamous cell carcinoma (SCC), Bowen's disease, cutaneous T cell lymphoma (CTCL), malignant melanoma, and its use in chemoprevention. Extensive PubMed search January 2013. We find sufficient evidence to recommend the use of PDT in certain patients in the treatment of AK, Bowen's disease, sBCC, and nBCC. It is especially useful in those with contraindications to surgery, widespread areas of involvement, and large lesions. Not only can it be considered superior to other therapies as far as recovery time, tolerance, and cosmetic outcomes, but it also should be considered, when indicated, as first-line treatment in the above conditions. Investigations continue for the use of PDT in the treatment of melanoma, SCC, chemoprevention, and CTCL. © 2013 by the American Society for Dermatologic Surgery, Inc. Published by Wiley Periodicals, Inc.

Malignant inflammation in cutaneous T-cell lymphoma-a hostile takeover

DEFF Research Database (Denmark)

Krejsgaard, Thorbjørn; Lindahl, Lise M; Mongan, Nigel P

2017-01-01

Cutaneous T-cell lymphomas (CTCL) are characterized by the presence of chronically inflamed skin lesions containing malignant T cells. Early disease presents as limited skin patches or plaques and exhibits an indolent behavior. For many patients, the disease never progresses beyond this stage......, but in approximately one third of patients, the disease becomes progressive, and the skin lesions start to expand and evolve. Eventually, overt tumors develop and the malignant T cells may disseminate to the blood, lymph nodes, bone marrow, and visceral organs, often with a fatal outcome. The transition from early...... of the inflammatory environment, suppressing cellular immunity and anti-tumor responses while promoting a chronic inflammatory milieu that fuels their own expansion. Here, we review the inflammatory changes associated with disease progression in CTCL and point to their wider relevance in other cancer contexts. We...

GAD Antibody-Associated Late-Onset Cerebellar Ataxia in Two Female Siblings

Directory of Open Access Journals (Sweden)

Joseph Kuchling

2014-11-01

Full Text Available Background: Anti-glutamic acid decarboxylase antibody (GAD-ab-associated cerebellar ataxia is a rare neurological disorder characterized by cerebellar symptoms concomitant with high GAD-ab levels in serum and cerebrospinal fluid (CSF. Case Report: We report on 2 female siblings (aged 74 and 76 years presenting with gradual progression of rotational vertigo, gait ataxia and vertical diplopia, continuously progressing for 6 months and 6 years, respectively. Autoimmune laboratory examinations showed remarkably increased serum and CSF GAD-ab levels. Their medical histories revealed late-onset type 1 diabetes mellitus (T1DM and other concomitant autoimmune disorders (Grave's disease, Hashimoto's thyroiditis. Cerebral MRI and laboratory examinations were unremarkable. The diagnosis of GAD-ab-associated cerebellar ataxia with particular brainstem involvement was established in both women. After the exclusion of an underlying malignancy, immunosuppressive therapy has been initiated in both patients, which resulted in stabilization in one and in clinical improvement in the other patient. Discussion: The unique association of autoantibody-mediated cerebellar ataxia and late-onset T1DM in 2 siblings with similar clinical and paraclinical phenotypes strengthens the concept that hereditary factors might play a relevant role also in autoimmune diseases so far considered to be sporadic. Moreover, the occurrence of continuous vertical diplopia broadens the clinical spectrum of GAD-ab-associated neurological syndromes.

Late onset startle induced tics

NARCIS (Netherlands)

Tijssen, MAJ; Brown, P; Morris, HR; Lees, A

1999-01-01

Three cases of late onset Gilles de la Tourette's syndrome are presented. The motor ties were mainly induced by an unexpected startling stimulus, but the startle reflex was not exaggerated. The ties developed after physical trauma or a period of undue emotional stress. Reflex ties may occur in

Late onset startle induced tics

NARCIS (Netherlands)

Tijssen, M. A.; Brown, P.; Morris, H. R.; Lees, A.

1999-01-01

Three cases of late onset Gilles de la Tourette's syndrome are presented. The motor tics were mainly induced by an unexpected startling stimulus, but the startle reflex was not exaggerated. The tics developed after physical trauma or a period of undue emotional stress. Reflex tics may occur in

Theory of Mind differences in older patients with early-onset and late-onset paranoid schizophrenia.

Science.gov (United States)

Smeets-Janssen, M M J; Meesters, P D; Comijs, H C; Eikelenboom, P; Smit, J H; de Haan, L; Beekman, A T F; Stek, M L

2013-11-01

Theory of Mind (ToM) is considered an essential element of social cognition. In younger schizophrenia patients, ToM impairments have extensively been demonstrated. It is not clear whether similar impairments can be found in older schizophrenia patients and if these impairments differ between older patients with early-onset and late-onset schizophrenia. Theory of Mind abilities were assessed using the Hinting Task in 15 older patients (age 60 years and older) with early-onset paranoid schizophrenia, 15 older patients with late-onset paranoid schizophrenia and 30 healthy controls. ANCOVA was performed to test differences between groups. Analyses were adjusted for level of education. Effect sizes, partial eta squared (ε(2) ), were computed as an indication of the clinical relevance of the findings. Patients with early-onset schizophrenia scored significantly lower on the Hinting Task (mean 16.1; SD 4.3) compared with patients with late-onset schizophrenia (mean 18.6; SD 1.5) and with healthy controls (mean 19.0; SD 1.4). The effect size of this difference was large (ε(2)  = 0.2). These results suggest that ToM functioning may be a protective factor modulating the age at onset of psychosis. Further studies into the relationship between social cognition and onset age of psychosis are warranted. Copyright © 2013 John Wiley & Sons, Ltd.

The neuropsychology and neurobiology of late-onset schizophrenia and very-late-onset schizophrenia-like psychosis: A critical review.

Science.gov (United States)

Van Assche, Lies; Morrens, Manuel; Luyten, Patrick; Van de Ven, Luc; Vandenbulcke, Mathieu

2017-12-01

The current review discusses neuropsychological profiles and the longitudinal course of cognitive dysfunction in Late Onset Schizophrenia (LOS) and Very-late-onset schizophrenia-like psychosis (VLOSLP), and attempts to clarify its neurobiological underpinnings. A systematic literature search resulted in 29 publications describing original research on the neuropsychology of LOS/VLOSLP and 46 studies focussing on neurobiology. Although mildly progressive cognitive impairment is usually present, only a subgroup of LOS/VLOSLP develops dementia during a 10-year follow-up succeeding the onset of psychosis. This coincides with the absence of neuropathological evidence for neurodegeneration in many cases. Cognitive deterioration is characterized by deficits in (working) memory, language, psychomotor speed and executive functioning. Underlying neurobiological changes encompass white matter pathology, increased ventricle-to-brain ratio (VBR) with coinciding atrophy and hypo-metabolism of frontal, temporal and subcortical areas. Multiple changes in neurobiology and cognition contributing to LOS/VLOSLP may reflect stress-related accelerated brain aging rather than neurodegenerative pathology. Their involvement in the onset of illness, however, might be inversely proportional to pre-existing (psychosocial and/or genetic) vulnerability to psychosis. Copyright © 2017 Elsevier Ltd. All rights reserved.

Malignant T cells express lymphotoxin alpha and drive endothelial activation in cutaneous T cell lymphoma

DEFF Research Database (Denmark)

Lauenborg, Britt; Christensen, Louise; Ralfkiaer, Ulrik

2015-01-01

Lymphotoxin α (LTα) plays a key role in the formation of lymphatic vasculature and secondary lymphoid structures. Cutaneous T cell lymphoma (CTCL) is the most common primary lymphoma of the skin and in advanced stages, malignant T cells spreads through the lymphatic to regional lymph nodes...

Neuropsychiatric manifestations in late-onset urea cycle disorder patients

OpenAIRE

Serrano Mercedes L.; Martins Cecilia E.; Pérez-Dueñas Belén; Gómez-López Lilian; Murgui Empar; Fons Carmen; García-Cazorla Ángels; Artuch Rafael M D; Jara Fernando; Arranz José Antonio; Häberle Johannes; Briones Paz; Campistol Jaume M D; Pineda Mercè; Vilaseca María Antònia Antonia

2010-01-01

Inherited urea cycle disorders represent one of the most common groups of inborn errors of metabolism. Late onset urea cycle disorders caused by partial enzyme deficiencies may present with unexpected clinical phenotypes. We report 9 patients followed up in our hospital presenting late onset urea cycle disorders who initially manifested neuropsychiatric/neurodevelopmental symptoms (the most prevalent neuropsychiatric/neurodevelopmental diagnoses were mental retardation attention deficit hyper...

Atypical Primary Cutaneous Rosai Dorfman Disease: A Case Report.

Science.gov (United States)

Kinio, Anna E; Sawchuk, Michael A; Pratt, Melanie

Rosai Dorfman disease (RDD) is a rare disorder that typically presents with bilateral cervical lymphadenopathy and follows a benign course. We present a case of late-onset atypical primary cutaneous RDD that is resistant to treatment modalities described in the literature. Case report. An 84-year-old woman presented with a 7-year history of cutaneous lesions histologically consistent with RDD. She later failed initial treatments of acitretin and thalidomide. Physicians must be aware of unusual presentations of RDD. Also, further treatment options must be explored for patients resistant to classical management of RDD.

Early- and Late-Onset Inherited Erythromelalgia

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J Gordon Millichap

2009-08-01

Full Text Available A genotype-phenotype relationship at the clinical, cellular and molecular levels is shown in a case of erythromelalgia of relatively late onset, in a study at Yale University School of Medicine, and centers in China.

Progression of Late-Onset Stargardt Disease

NARCIS (Netherlands)

Lambertus, S.; Lindner, M.; Bax, N.M.; Mauschitz, M.M.; Nadal, J.; Schmid, M.; Schmitz-Valckenberg, S.; Hollander, A.I. den; Weber, B.H.; Holz, F.G.; Wilt, G.J. van der; Fleckenstein, M.; Hoyng, C.B.

2016-01-01

Purpose: Identification of sensitive biomarkers is essential to determine potential effects of emerging therapeutic trials for Stargardt disease. This study aimed to describe the natural history of late-onset Stargardt, and demonstrates the accuracy of retinal pigment epithelium (RPE) atrophy

[Early-onset and late-onset male hypogonadotropic hypogonadism and osteoporosis].

Science.gov (United States)

Okada, Hiroshi; Shin, Takeshi; Kobori, Yoshitomo

2016-07-01

Hypogonadism is classified into two major clinical entities, namely early-onset hypogonadism and late-onset hypogonadism. The former is characterized by the malfunction of hypothalamo-pituitary-gonadal(testicular)axis or by the primary hypofunction of testes(e.g. Klinefelter's syndrome). The latter is summarized as LOH syndrome which is attributed to the dropped level of bioavailable testosterone. In these diseases testosterone is the key molecule which may cause various symptoms relating not only to physical health but also to mental or psychologic health. In this review issues concerning bone health in these disease are described.

Worldwide Increasing Incidences of Cutaneous Malignant Melanoma

International Nuclear Information System (INIS)

Godar, D. E.

2011-01-01

The incidence of cutaneous malignant melanoma (CMM) has been increasing at a steady rate in fair-skinned populations around the world for decades. Scientists are not certain why CMM has been steadily increasing, but strong, intermittent UVB (290-320 nm) exposures, especially sunburn episodes, probably initiate, CMM, while UVA (321-400 nm) passing through glass windows in offices and cars probably promotes it. The CMM incidence may be increasing at an exponential rate around the world, but it definitely decreases with increasing latitude up to∼ 50 degree N where it reverses and increases with the increasing latitude. The inversion in the incidence of CMM may occur because there is more UVA relative to UVB for most of the year at higher latitudes. If windows, allowing UVA to enter our indoor-working environment and cars, are at least partly responsible for the increasing incidence of CMM, then UV filters can be applied to reduce the rate of increase worldwide.

Worldwide Increasing Incidences of Cutaneous Malignant Melanoma

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Dianne E. Godar

2011-01-01

Full Text Available The incidence of cutaneous malignant melanoma (CMM has been increasing at a steady rate in fair-skinned populations around the world for decades. Scientists are not certain why CMM has been steadily increasing, but strong, intermittent UVB (290–320 nm exposures, especially sunburn episodes, probably initiate, CMM, while UVA (321–400 nm passing through glass windows in offices and cars probably promotes it. The CMM incidence may be increasing at an exponential rate around the world, but it definitely decreases with increasing latitude up to ~50°N where it reverses and increases with the increasing latitude. The inversion in the incidence of CMM may occur because there is more UVA relative to UVB for most of the year at higher latitudes. If windows, allowing UVA to enter our indoor-working environment and cars, are at least partly responsible for the increasing incidence of CMM, then UV filters can be applied to reduce the rate of increase worldwide.

Late onset corneal ectasia after LASIK surgery.

Science.gov (United States)

Said, Ashraf; Hamade, Issam H; Tabbara, Khalid F

2011-07-01

To report late onset corneal ectasia following myopic LASIK. A retrospective cohort case series. Nineteen patients with late onset corneal ectasia following LASIK procedure were examined at The Eye Center, Riyadh, Saudi Arabia. Patients underwent LASIK for myopia with spherical equivalent ranging from -1.4 to -13.75 diopters. Age and gender, history of systemic or local diseases, and time of onset of corneal ectasia were recorded. Eye examination and corneal topographical analyses were done before and after LASIK surgery. Nineteen patients (29 eyes) with late onset corneal ectasia were identified from 1998 to 2008 in 13 male and six female patients. The mean follow-up period was 108 ± 23 months (range 72-144 months). No patient had pre-operative identifiable risk factors for corneal ectasia and the mean time of onset was 57 ± 24 months (range 24-120 months after LASIK). The pre-operative values included mean central pachymetry 553 ± 25 μm, mean keratometry reading of 42.9 ± 1.5 diopters, average oblique cylinder of 1.4 ± 1.2 diopters, posterior surface elevation of 26 ± 2.1 diopters, corneal flap thickness of 160 μm, mean spherical equivalent of -5.6 ± 3.6 diopters, and calculated residual corneal stromal bed thickness was 288 ± 35 μm. Three (5 eyes) patients developed ectasia after pregnancy. Three (4 eyes) patients developed corneal ectasia following severe adenoviral keratoconjunctivitis and had positive PCR for adenovirus type 8. Corneal ectasia may develop many years after LASIK surgery and symptoms could go undetected for some time. Pregnancy and adenoviral keratoconjunctivitis occurred post-operatively in six patients.

Etiology and electroclinical pattern of late onset epilepsy in Ibadan ...

African Journals Online (AJOL)

Late onset epilepsy (LOE) is a common neurological problem throughout the world. It is an area that has not been fully explored in the developing countries like Nigeria. The aim of the present study is to determine the pattern of presentation of late onset epilepsy with the view to identifying the etiologic as well as describe ...

Late-onset hypogonadism

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Piotr Dudek

2017-06-01

Full Text Available In Poland, the number of men over the age of 50 years exceeds 6 million. It is estimated that about 2-6% of this population develops symptoms of late-onset hypogonadism (LOH. In men, testosterone deficiency increases slightly with age. LOH is a clinically and biochemically defined disease of older men with serum testosterone level below the reference parameters of younger healthy men and with symptoms of testosterone deficiency, manifested by pronounced disturbances of quality of life and harmful effects on multiple organ systems. Testosterone replacement therapy may give several benefits regarding body composition, metabolic control, and psychological and sexual parameters.

Photosensitivity and Acute Liver Insufficiency in Late-Onset Erythropoietic Protoporphyria with a Chromosome 18q Abnormality

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Yuka Oshikawa

2012-07-01

Full Text Available Late-onset erythropoietic protoporphyria (EPP is rare, and it is usually associated with an acquired somatic mutation of the ferrochelatase gene secondary to hematological malignancy such as myelodysplastic syndrome or myeloproliferative disorder. In 0.5–1% of patients with EPP, deposition of protoporphyrin in the liver leads to progressive liver insufficiency. Herein, we report the case of a 67-year-old female who developed EPP with typical photosensitivity and hemolytic anemia. Six months later, she was admitted with acute liver damage with a rapidly progressing course, and developed liver insufficiency. She recovered from the liver insufficiency after undergoing plasmapheresis and red blood cell exchange transfusion. A bone marrow examination revealed normal features; however, a cytogenetic analysis identified an abnormal clone of cells with a translocation between chromosomes 13q12 and 18q21.1. This is the first report of a patient who recovered from liver insufficiency. The results of this report suggest that plasmapheresis and red blood cell exchange transfusion are effective for treating liver insufficiency in patients with late-onset EPP.

Childhood abuse and late-life depression: Mediating effects of psychosocial factors for early- and late-onset depression.

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Wielaard, Ilse; Hoyer, Mathijs; Rhebergen, Didi; Stek, Max L; Comijs, Hannie C

2018-03-01

Childhood abuse makes people vulnerable to developing depression, even in late life. Psychosocial factors that are common in late life, such as loneliness or lack of a partner, may explain this association. Our aim was to investigate whether the association between childhood abuse and depression in older adults can be explained by psychosocial factors. Cross-sectional data were derived from the Netherlands Study of Depression in Older Persons (aged 60-93), including 132 without lifetime depression, 242 persons with an early-onset depression (Childhood abuse (yes/no) and a frequency-based childhood abuse index were included. Multinomial regression and multivariable mediation analyses were used to examine the association between childhood abuse and the onset of depression, and the influence of loneliness, social network, and partner status. Multinomial regression analyses showed a significant association between childhood abuse and the childhood abuse index with early- and late-onset depression. Multivariable mediation analyses showed that the association between childhood abuse and early-onset depression was partly mediated by social network size and loneliness. This was particularly present for emotional neglect and psychological abuse, but not for physical and sexual abuse. No psychosocial mediators were found for the association between childhood abuse and late-onset depression. A smaller social network and feelings of loneliness mediate the association between childhood abuse and early-onset depression in older adults. Our findings show the importance of detecting childhood abuse as well as the age at depression onset and mapping of relevant psychosocial factors in the treatment of late-life depression. Copyright © 2018 John Wiley & Sons, Ltd.

[Cutaneous malignant melanomas in New Caledonia. Study of the Cancer Registry (1977-1987)].

Science.gov (United States)

Di Schino, M; Merouze, F; Huerre, M; Grimaldi, F; Lorthioir, J M; Breda, Y; Merrien, Y

1989-01-01

Investigation of cancer registration files in New Caledonia over a period of 11 years (1977-1987) draws the following conclusions: --The uncorrected incidence rate of cutaneous malignant melanoma is 3.63/100,000 inhabitants/year, for all ethnic groups together. --The incidence rate in the "non-European" population is 0.6/100,000 inhabitants/year. This low incidence and the anatomo-clinical manifestations observed (lentiginous melanoma of extremities) are common in coloured people. --The incidence rate in the "European" population is 8.75/100,000 inhabitants/year is noticeably higher than the incidence in the metropolitan population. Such conclusions are in accordance with the admitted data regarding epidemiology of cutaneous melanoma in high insolation countries. Cumulated incidence rate and topography of lesions are similar in this series whatever the sex.

[Severe late-onset group B streptococcal infection. A case report].

Science.gov (United States)

Haase, Roland; Nagel, Frank; Hirsch, Wolfgang; Sitka, Uwe

2003-01-01

Group B Streptococcus (GBS) is a well-known cause of neonatal pneumonia, sepsis and meningitis. Peripartal antibiotic prophylaxis for early-onset GBS infection is in routine use since the beginning of the last decade, but strategies for effective prevention of late-onset GBS infections are still lacking. Few hours after discharge from a non-local maternity ward a 3-week-old boy was admitted to our hospital because of GBS meningitis with necrotizing encephalomalacia. Maternal mastitis, not a disease of the baby, had led to the first admission. Case history and negative maternal swabs and cultures for GBS led to the hypothesis of nosocomial infection. Screening and risk based peripartal antibiotic prophylaxis, better monitoring and improved therapeutic modalities have reduced the incidence and mortality of early-onset GBS infections, but peripartal prophylaxis failed to influence late-onset GBS infections. Up to 40 % of infants with late-onset meningitis develop neurological sequelae. Maternal vaccination with multivalent conjugate vaccines against GBS is a new strategy which may lead to passive protection of the infant. Further studies to examine the efficacy of vaccines are in progress.

Intrauterine growth restriction and placental gene expression in severe preeclampsia, comparing early-onset and late-onset forms.

Science.gov (United States)

Nevalainen, Jaana; Skarp, Sini; Savolainen, Eeva-Riitta; Ryynänen, Markku; Järvenpää, Jouko

2017-10-26

To evaluate placental gene expression in severe early- or late-onset preeclampsia with intrauterine growth restriction compared to controls. Chorionic villus sampling was conducted after cesarean section from the placentas of five women with early- or late-onset severe preeclampsia and five controls for each preeclampsia group. Microarray analysis was performed to identify gene expression differences between the groups. Pathway analysis showed over-representation of gene ontology (GO) biological process terms related to inflammatory and immune response pathways, platelet development, vascular development, female pregnancy and reproduction in early-onset preeclampsia. Pathways related to immunity, complement and coagulation cascade were overrepresented in the hypergeometric test for the Kyoto Encyclopedia of Genes and Genomes (KEGG) database. Ten genes (ABI3BP, C7, HLA-G, IL2RB, KRBOX1, LRRC15, METTL7B, MPP5, RFLNB and SLC20A) had a ≥±1 fold expression difference in severe early-onset preeclampsia group compared to early controls. There were 362 genes that had a ≥±1 fold expression difference in severe early-onset preeclampsia group compared to late-onset preeclampsia group including ABI3BP, C7, HLA-G and IL2RB. There are significant differences in placental gene expression between severe early- and late-onset preeclampsia when both are associated with intrauterine growth restriction. ABI3BP, C7, HLA-G and IL2RB might contribute to the development of early form of severe preeclampsia.

Late- versus early-onset geriatric depression in a memory research center

Directory of Open Access Journals (Sweden)

Carol Dillon

2009-10-01

Full Text Available Carol Dillon1, Ricardo F Allegri2, Cecilia M Serrano1, Mónica Iturry1, Pablo Salgado1, Frank B Glaser1, Fernando E Taragano21Memory Research Center, Department of Neurology, Hospital General Abel Zubizarreta, GCBA Buenos Aires, Argentina; 2Department of Neuropsychology (SIREN, CEMIC University, Buenos Aires, ArgentinaObjective: To contrast early-onset (<60 years and late-onset (>60 years depression in geriatric patients by evaluating differences in cognition, vascular comorbidity and sociological risk factors. Both patient groups were compared with normal subjects.Materials and methods: We recruited 76 patients with depressive symptoms (37 late onset and 39 early onset and 17 normal controls matched by age and educational level. All subjects were assessed using a semistructured neuropsychiatric interview and an extensive neuropsychological battery. Vascular and sociological risk factors were also evaluated.Results: We found a significant variation in performance between depressive patients and normal controls in most cognitive functions, especially memory (P < 0.0001, semantic fluency (P < 0.0001, verbal fluency, and digit-symbol (P < 0.0001. Late-onset depression patients scored lower and exhibited more severe impairment in memory domains than early-onset depression patients (P < 0.05. Cholesterol levels and marital status were significantly (P < 0.05 different between the depressive groups. Both depressed groups (early- and lateonset were more inactive than controls (P < 0.05; odds ratio: 6.02.Conclusion: Geriatric depression may be a manifestation of brain degeneration, and the initial symptom of a dementia. It is important to consider this in the treatment of patients that exhibit late-onset depressive symptoms.Keywords: early- and late-onset depression, geriatrics, cognition

Late Malignant Transformation of a Vestibular Schwannoma without Association to NFII or Radiotherapy

DEFF Research Database (Denmark)

Bashir, Asma; Poulsgaard, Lars; Broholm, Helle

Late malignant transformation of vestibular schwannoma (VS) following irradiation has previously been reported 29 times in the literature. Here, the authors report the first late malignant transformation of VS unrelated to neurofibromatosis or radiation exposure. After undergoing a near-total exc...

Status Cataplecticus as Initial Presentation of Late Onset Narcolepsy

Science.gov (United States)

Panda, Samhita

2014-01-01

Narcolepsy, one of the important causes of hypersomnia, is an under diagnosed sleep disorder. It has a bimodal age of onset around 15 and 35 years. It is characterized by the tetrad of excessive daytime sleepiness, cataplexy, hypnagogic/ hypnopompic hallucinations, and sleep paralysis. Cataplexy is by far the most predictive feature of narcolepsy. Status cataplecticus is the occurrence of cataplexy repeatedly for hours or days, a rare presentation of narcolepsy. This report describes an elderly gentleman with late onset narcolepsy in the sixth decade of life presenting with initial and chief symptom of status cataplecticus. Citation: Panda S. Status cataplecticus as initial presentation of late onset narcolepsy. J Clin Sleep Med 2014;10(2):207-209. PMID:24533005

Neuropsychiatric manifestations in late-onset urea cycle disorder patients.

Science.gov (United States)

Serrano, Mercedes; Martins, Cecilia; Pérez-Dueñas, Belén; Gómez-López, Lilian; Murgui, Empar; Fons, Carmen; García-Cazorla, Angels; Artuch, Rafael; Jara, Fernando; Arranz, José A; Häberle, Johannes; Briones, Paz; Campistol, Jaume; Pineda, Mercedes; Vilaseca, Maria A

2010-03-01

Inherited urea cycle disorders represent one of the most common groups of inborn errors of metabolism. Late-onset urea cycle disorders caused by partial enzyme deficiencies may present with unexpected clinical phenotypes. We report 9 patients followed up in our hospital presenting late-onset urea cycle disorders who initially manifested neuropsychiatric/neurodevelopmental symptoms (the most prevalent neuropsychiatric/neurodevelopmental diagnoses were mental retardation, attention-deficit hyperactivity disorder [ADHD], language disorder, and delirium). Generally, these clinical pictures did not benefit from pharmacological treatment. Conversely, dietary treatment improved the symptoms. Regarding biochemical data, 2 patients showed normal ammonium but high glutamine levels. This study highlights the fact that neuropsychiatric/neurodevelopmental findings are common among the initial symptomatology of late-onset urea cycle disorders. The authors recommend that unexplained or nonresponsive neuropsychiatric/neurodevelopmental symptoms appearing during childhood or adolescence be followed by a study of ammonia and amino acid plasmatic levels to rule out a urea cycle disorder.

Efficacy of brain scanning in epilepsy of late onset

International Nuclear Information System (INIS)

Jain, A.N.; Ramanathan, P.; Ganatra, R.D.

1978-01-01

Brain scans of 513 patients with epilepsy of late onset were analysed with reference to the patient's age and sex and to the nature of convulsion. Only 17 of them showed an abnormal concentration of radionuclide indicating a space-occupying lesion in the brain. The findings of those patients who had positive brain scans were correlated with EEG findings. It was found that the incidence of epilepsy of late onset is almost 3 times higher in males than in females and that the age cannot be considered as a criterion for screening the patients for brain scan investigation as far as epilepsy of late onset is concerned. In the authors' opinion, the incidence of 3.3% is not too low. A positive brain scan finding calls for further investigation and helps in deciding the management and further line of treatment of the patients. Moreover, a normal scan rules out the presence of a space-occupying lesion and helps as a screening procedure. (orig.) 891 MG [de

Late onset Li-Fraumeni Syndrome with bilateral breast cancer and other malignancies: case report and review of the literature

International Nuclear Information System (INIS)

Kast, Karin; Krause, Mechthild; Schuler, Markus; Friedrich, Katrin; Thamm, Barbara; Bier, Andrea; Distler, Wolfgang; Krüger, Stefan

2012-01-01

Li-Fraumeni-Syndrome (LFS) is an autosomal-dominant, inherited tumour predisposition syndrome associated with heterozygous germline mutations in the TP53 gene. Patients with LFS are at a high risk to develop early-onset breast cancer and multiple malignancies, among which sarcomas are the most common. A high incidence of childhood tumours and close to 100% penetrance has been described. Knowledge of the genetic status of the TP53 gene in these patients is critical not only due to the increased risk of malignancies, but also because of the therapeutic implications, since a higher rate of radiation-induced secondary tumours in these patients has been observed. We report a patient with LFS harbouring heterozygous, pathogenic TP53 germline mutation, who was affected by four synchronous malignancies at the age of 40: a myxofibrosarcoma of the right upper arm, bilateral breast cancer and a periadrenal liposarcoma. Radiological treatments and a surveillance program were adjusted according to recommendations for LFS patients. Management of tumour treatment of patients with LFS is different to the general population because of their risk for secondary cancers in the radiation field. Screening procedures should take a possibly elevated risk for radiation induced cancer into account

Central-peripheral Temperature Monitoring as a Marker for Diagnosing Late-onset Neonatal Sepsis.

Science.gov (United States)

Leante-Castellanos, José Luis; Martínez-Gimeno, Antonio; Cidrás-Pidré, Manuel; Martínez-Munar, Gerardo; García-González, Ana; Fuentes-Gutiérrez, Carmen

2017-12-01

The prognosis for late-onset sepsis depends largely on a timely diagnosis. We assess central-peripheral temperature difference monitoring as a marker for late-onset neonatal sepsis diagnosis. We performed a prospective, observational study focusing on a cohort of 129 very low-birth-weight infants. Thermal gradient alteration was defined as a difference of > 2°C maintained during 4 hours. We then determined its association with the late-onset sepsis variable through logistic regression. We enrolled 129 preterm babies in 52 months. Thermal gradient alterations showed an adjusted odds ratio for late-onset sepsis of 23.60 (95% confidence interval [CI], 6.80-81.88), with a sensitivity of 83% and negative predictive value of 94%. In 71% of cases, thermal gradient alteration was the first clinical sign of sepsis, while C-reactive protein was peripheral temperature differences are an early sign of evolving late-onset sepsis.

Survival of cutaneous malignant melanoma patients at University of Iowa Hospitals: 1950--1974.

Science.gov (United States)

Griffel, M

1981-01-01

Survival of 387 patients treated for cutaneous malignant melanoma at University of Iowa Hospitals during the period 1950--1974 was analyzed. For the entire period, the observed five-year survivals were 57% for women and 33% for men; the corresponding ten-year survivals were 43 and 23%. For both men and women, there was an impressive improvement in outcome between the earliest and the latest periods, so that for 1970--1974, the five-year observed survival was 68% for women and 49% for men. Data are presented on mean age at diagnosis, distribution by stage, site, and sex, and survival by site and sex. The question is raised whether the biologic nature of malignant melanoma is variable, so that increased incidence is associated with better prognosis.

Progression of Late-Onset Stargardt Disease.

Science.gov (United States)

Lambertus, Stanley; Lindner, Moritz; Bax, Nathalie M; Mauschitz, Matthias M; Nadal, Jennifer; Schmid, Matthias; Schmitz-Valckenberg, Steffen; den Hollander, Anneke I; Weber, Bernhard H F; Holz, Frank G; van der Wilt, Gert Jan; Fleckenstein, Monika; Hoyng, Carel B

2016-10-01

Identification of sensitive biomarkers is essential to determine potential effects of emerging therapeutic trials for Stargardt disease. This study aimed to describe the natural history of late-onset Stargardt, and demonstrates the accuracy of retinal pigment epithelium (RPE) atrophy progression as an outcome measure. We performed a retrospective cohort study collecting multicenter data from 47 patients (91 eyes) with late-onset Stargardt, defined by clinical phenotype, at least one ABCA4 mutation, and age at disease onset ≥ 45 years. We analyzed RPE atrophy progression on fundus autofluorescence and near-infrared reflectance imaging using semiautomated software and a linear mixed model. We performed sample size calculations to assess the power in a simulated 2-year interventional study and assessed visual endpoints using time-to-event analysis. Over time, progression of RPE atrophy was observed (mean: 0.22 mm/year, 95% confidence interval [CI]: 0.19-0.27). By including only patients with bilateral RPE atrophy in a future trial, 32 patients are needed to reach a power of 83.9% (95% CI: 83.1-84.6), assuming a fixed therapeutic effect size of 30%. We found a median interval between disease onset and visual acuity decline to 20/32, 20/80, and 20/200 of 2.74 (95% CI: 0.54-4.41), 10.15 (95% CI: 6.13-11.38), and 11.38 (95% CI: 6.13-13.34) years, respectively. We show that RPE atrophy represents a robust biomarker to monitor disease progression in future therapeutic trials. In contrast, the variability in terms of the course of visual acuity was high.

Comparing disciplines: outcomes of non melanoma cutaneous malignant lesions in oral and maxillofacial surgery and dermatology.

Science.gov (United States)

Thavarajah, M; Szamocki, S; Komath, D; Cascarini, L; Heliotis, M

2015-01-01

300 cases of non-melanoma cutaneous lesion procedures carried out by the Oral and Maxillofacial Surgery and Dermatology departments in a North West London hospital over a 6 month period between September 2011 and February 2012 were included in a retrospective case control study. The results from each speciality were compared. The mean age of the OMFS group was 75.8 years compared to 69.9 years in the dermatology group. There was no statistically significant difference in gender between the 2 groups. The OMFS group treated a higher proportion of atypical (17%) and malignant (64.9%) cases compared to the dermatology group (11.3% and 50.5% respectively). This could also account for the fact that the OMFS group carried out a higher number of full excisions compared to dermatology. Both groups had a similar number of false positives (a benign lesion initially diagnosed as malignant) and a similar proportion of false negatives (a malignant lesion initially diagnosed as benign). Overall, the results show that both specialities had similar outcomes when managing non-melanoma cutaneous lesions. Both groups adhere to the guidelines set out by the British Association of Dermatologists and the National Institute of Clinical Excellence when managing such lesions. Crown Copyright © 2014. Published by Elsevier Ltd. All rights reserved.

Malignant cutaneous T-cell lymphoma cells express IL-17 utilizing the Jak3/Stat3 signaling pathway

DEFF Research Database (Denmark)

Krejsgaard, Thorbjørn Frej; Ralfkiær, Ulrik; Clasen-Linde, Erik

2011-01-01

IL-17 is a proinflammatory cytokine that is crucial for the host's protection against a range of extracellular pathogens. However, inappropriately regulated expression of IL-17 is associated with the development of inflammatory diseases and cancer. In cutaneous T-cell lymphoma (CTCL), malignant T...

Retrospective study on the characteristics and treatment of late-onset vitiligo.

Science.gov (United States)

Kong, Yan Ling; Ching, Vanessa Hui Ling; Chuah, Sai Yee; Thng, Tien Guan

2017-01-01

Late-onset vitiligo, defined as being aged 50 years and above at the point of clinical onset, remains poorly characterized till now. This study aims to describe the clinical characteristics and treatment response of patients with late-onset vitiligo. We retrospectively reviewed the case records of all patients diagnosed with late-onset vitiligo, from January 1, 2010 to December 31, 2014. Information obtained included patient demographics, characteristics of vitiligo and treatment responses. Of the 3128 patients diagnosed with vitiligo over the 5-year period, 461 (14.7%) had late-onset disease. The study had more females (n = 260, 56.4%) than males, with an average onset age of 59.4 ± 7.4 years. Majority of patients were Chinese (n = 308, 66.8%) and 45 (9.8%) patients had an associated autoimmune disease. Focal vitiligo, defined as the localized presence of depigmented patches, was most common (n = 209, 45.3%). Treatment response was evaluated in 359 patients, of which 216 received monotherapy (topical creams: n = 210, 97.2%; phototherapy: n = 6, 2.8%) and 143 received both modalities. Fifty six (15.6%) patients received oral steroids. Patients who were treated with both topical creams and phototherapy yielded better clinical responses compared to those on monotherapy (P 50% return of pigmentation compared to baseline (vs. n = 66, 30.6% in the monotherapy group). The choice of phototherapy (targeted, narrowband ultraviolet B or psoralen + ultraviolet A) did not significantly affect clinical response (P = 0.774). This study is limited by its retrospective nature, the nonstandardized documentation resulting in the inability to determine disease progression and associated metabolic comorbidities and also by the gradual loss to follow-up of patients. Late-onset vitiligo is not uncommon and tends to be of the focal vitiligo subtype. Nonsegmented vitiligo is more prevalent than segmental vitiligo. Combination therapy with topical medications and phototherapy is superior

Correlates and prevalence of hypogonadism in patients with early- and late-onset type 2 diabetes.

Science.gov (United States)

Li, Y; Zhang, M; Liu, X; Cui, W; Rampersad, S; Li, F; Lin, Z; Yang, P; Li, H; Sheng, C; Cheng, X; Qu, S

2017-07-01

This study aims to compare the prevalence of hypogonadism between male patients with early-onset type 2 diabetes mellitus (T2DM) and late-onset type 2 diabetes. A total of 122 male patients with early-onset T2DM (diagnosis age ≤40 years) and 100 male patients with late-onset T2DM (diagnosis age >40 years) were recruited from our in-patient department between 1 January 2013 and 28 December 2015. Serum FSH, LH, testosterone, lipid profile, uric acid, HbA1c, and beta-cell function were determined in blood samples. The diagnosis of hypogonadism was based on the levels of LH, FSH, and total testosterone. The mean onset age was 29.86 ± 6.31 and 54.47 ± 9.97 years old in the early-onset group and late-onset group, respectively. Compared with late-onset T2DM, those with early-onset T2DM had a higher proportion of new-onset diabetes, were more likely to be obese, and had worse glycemic control, lipid control, and lower sex hormone-binding globulin (SHBG). The prevalence of hypogonadism was much higher in the early-onset group than in the late-onset group (48.0% vs. 26.7%, p hypogonadism in the early-onset group and late-onset group were 44.3% and 25.0%, respectively (p hypogonadism was higher in the patients with early-onset T2DM than that of late-onset T2DM. This prevalence might be attributable to greater obesity, worse lipid control, and lower SHBG levels in those patients. © 2017 American Society of Andrology and European Academy of Andrology.

Hypothyroidism in late-onset Pompe disease

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Joseph Schneider

2016-09-01

Conclusions: Hypothyroidism was found at a higher prevalence in patients with late-onset Pompe disease compared to the general adult population at UMMC. Studies in larger populations of patients with Pompe disease would be needed to confirm an association of Pompe disease and hypothyroidism. Challenges include finding an adequate sample size, due the rarity of Pompe disease.

Late onset Li-Fraumeni Syndrome with bilateral breast cancer and other malignancies: case report and review of the literature

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Kast Karin

2012-06-01

Full Text Available Abstract Background Li-Fraumeni-Syndrome (LFS is an autosomal-dominant, inherited tumour predisposition syndrome associated with heterozygous germline mutations in the TP53 gene. Patients with LFS are at a high risk to develop early-onset breast cancer and multiple malignancies, among which sarcomas are the most common. A high incidence of childhood tumours and close to 100% penetrance has been described. Knowledge of the genetic status of the TP53 gene in these patients is critical not only due to the increased risk of malignancies, but also because of the therapeutic implications, since a higher rate of radiation-induced secondary tumours in these patients has been observed. Case report We report a patient with LFS harbouring heterozygous, pathogenic TP53 germline mutation, who was affected by four synchronous malignancies at the age of 40: a myxofibrosarcoma of the right upper arm, bilateral breast cancer and a periadrenal liposarcoma. Radiological treatments and a surveillance program were adjusted according to recommendations for LFS patients. Conclusion Management of tumour treatment of patients with LFS is different to the general population because of their risk for secondary cancers in the radiation field. Screening procedures should take a possibly elevated risk for radiation induced cancer into account.

The predictive value of single-photon emission computed tomography/computed tomography for sentinel lymph node localization in head and neck cutaneous malignancy.

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Remenschneider, Aaron K; Dilger, Amanda E; Wang, Yingbing; Palmer, Edwin L; Scott, James A; Emerick, Kevin S

2015-04-01

Preoperative localization of sentinel lymph nodes in head and neck cutaneous malignancies can be aided by single-photon emission computed tomography/computed tomography (SPECT/CT); however, its true predictive value for identifying lymph nodes intraoperatively remains unquantified. This study aims to understand the sensitivity, specificity, and positive and negative predictive values of SPECT/CT in sentinel lymph node biopsy for cutaneous malignancies of the head and neck. Blinded retrospective imaging review with comparison to intraoperative gamma probe confirmed sentinel lymph nodes. A consecutive series of patients with a head and neck cutaneous malignancy underwent preoperative SPECT/CT followed by sentinel lymph node biopsy with a gamma probe. Two nuclear medicine physicians, blinded to clinical data, independently reviewed each SPECT/CT. Activity within radiographically defined nodal basins was recorded and compared to intraoperative gamma probe findings. Sensitivity, specificity, and negative and positive predictive values were calculated with subgroup stratification by primary tumor site. Ninety-two imaging reads were performed on 47 patients with cutaneous malignancy who underwent SPECT/CT followed by sentinel lymph node biopsy. Overall sensitivity was 73%, specificity 92%, positive predictive value 54%, and negative predictive value 96%. The predictive ability of SPECT/CT to identify the basin or an adjacent basin containing the single hottest node was 92%. SPECT/CT overestimated uptake by an average of one nodal basin. In the head and neck, SPECT/CT has higher reliability for primary lesions of the eyelid, scalp, and cheek. SPECT/CT has high sensitivity, specificity, and negative predictive value, but may overestimate relevant nodal basins in sentinel lymph node biopsy. © 2014 The American Laryngological, Rhinological and Otological Society, Inc.

When the bell tolls on Bell's palsy: finding occult malignancy in acute-onset facial paralysis.

Science.gov (United States)

Quesnel, Alicia M; Lindsay, Robin W; Hadlock, Tessa A

2010-01-01

This study reports 4 cases of occult parotid malignancy presenting with sudden-onset facial paralysis to demonstrate that failure to regain tone 6 months after onset distinguishes these patients from Bell's palsy patients with delayed recovery and to propose a diagnostic algorithm for this subset of patients. A case series of 4 patients with occult parotid malignancies presenting with acute-onset unilateral facial paralysis is reported. Initial imaging on all 4 patients did not demonstrate a parotid mass. Diagnostic delays ranged from 7 to 36 months from time of onset of facial paralysis to time of diagnosis of parotid malignancy. Additional physical examination findings, especially failure to regain tone, as well as properly protocolled radiologic studies reviewed with dedicated head and neck radiologists, were helpful in arriving at the diagnosis. An algorithm to minimize diagnostic delays in this subset of acute facial paralysis patients is presented. Careful attention to facial tone, in addition to movement, is important in the diagnostic evaluation of acute-onset facial paralysis. Copyright 2010 Elsevier Inc. All rights reserved.

Remote Cutaneous Breast Carcinoma Metastasis Mimicking Dermatitis

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Annakan V Navaratnam

2015-01-01

Full Text Available Cutaneous metastases from primary internal malignancies are an uncommon presentation. Cutaneous metastases are more frequently seen in breast cancer than in any other visceral malignancy in women. Medical practitioners should be vigilant of the possibility of unusual presentations of metastatic disease in breast cancer patients with lobular carcinoma presenting as cutaneous lesions mimicking benign dermatological conditions. Herein, we present a case of a 75-year-old woman presenting with cutaneous lobular breast carcinoma metastases on her anterior right leg, which had previously been misdiagnosed as dermatitis for 9 years.

Late-onset myasthenia not on the increase

DEFF Research Database (Denmark)

Pedersen, E G; Hallas, Jesper; Hansen, K

2013-01-01

BACKGROUND: An increase in late-onset myasthenia gravis (MG) has been reported. There are few large population-based studies over longer periods of time reflecting recent developments in MG incidence. METHODS: We identified a nationwide cohort of patients with incident myasthenia in Denmark in 1996...

An inducible mouse model of late onset Tay-Sachs disease.

Science.gov (United States)

Jeyakumar, Mylvaganam; Smith, David; Eliott-Smith, Elena; Cortina-Borja, Mario; Reinkensmeier, Gabriele; Butters, Terry D; Lemm, Thorsten; Sandhoff, Konrad; Perry, V Hugh; Dwek, Raymond A; Platt, Frances M

2002-08-01

Mouse models of the G(M2) gangliosidoses, Tay-Sachs and Sandhoff disease, are null for the hexosaminidase alpha and beta subunits respectively. The Sandhoff (Hexb-/-) mouse has severe neurological disease and mimics the human infantile onset variant. However, the Tay-Sachs (Hexa-/-) mouse model lacks an overt phenotype as mice can partially bypass the blocked catabolic pathway and escape disease. We have investigated whether a subset of Tay-Sachs mice develop late onset disease. We have found that approximately 65% of the mice develop one or more clinical signs of the disease within their natural life span (n = 52, P disease at an earlier age (n = 21, P Tay-Sachs mice confirmed that pregnancy induces late onset Tay-Sachs disease. Onset of symptoms correlated with reduced up-regulation of hexosaminidase B, a component of the bypass pathway.

Different Profile of Serum Leptin between Early Onset and Late Onset Preeclampsia

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Saeedeh Salimi

2014-01-01

Full Text Available Aim. This study was designed to clarify the role of leptin and adiponectin in preeclampsia (PE pathogenesis and different subtypes of preeclampsia. Method. This case control study was performed in 45 PE patients and 45 healthy controls matched for age, BMI, and ethnicity. Serum leptin and adiponectin levels were determined by enzyme linked immunosorbent assay (ELISA. Results. Maternal serum leptin and adiponectin were significantly higher in PE women than controls. Serum leptin was elevated in early onset preeclampsia (EOPE and late onset preeclampsia (LOPE compared to controls. Among PE patients, serum leptin was higher in EOPE than LOPE women. However, serum adiponectin was not different between EOPE and LOPE women. The serum leptin was significantly higher in severe PE than mild PE. The serum adiponectin was significantly elevated in severe PE compared to controls. Significant positive correlation was observed between leptin and adiponectin and also between leptin and BMI in controls. Moreover significant positive correlation was observed between adiponectin and BMI in PE patients and controls. Conclusion. The present study showed that serum leptin level may play a significant role as a biomarker to differentiate early and late onset PE and also its relation to BMI and severity of disease.

Outcomes of Infantile-Onset Glaucoma Associated With Port Wine Birthmarks and Other Periocular Cutaneous Vascular Malformation.

Science.gov (United States)

Reyes-Capó, Daniela; Cavuoto, Kara M; Chang, Ta C

2018-01-01

The incidence of infantile-onset secondary glaucoma associated with periocular cutaneous vascular malformations is high and the outcomes of these glaucomatous eyes have anecdotally been poor. The purpose of this study was to determine the anatomic and visual outcomes of affected eyes. Retrospective case series. Consecutive patients with early-onset (younger than 36 months of age) glaucoma associated with cutaneous vascular malformations from 1995‒2015 were included. Seventeen eyes of 13 patients with Sturge-Weber syndrome (SW, n = 10), Klippel-Trenaunay-Weber syndrome (KTW, n = 1), cutis marmorata telangiectatica congenita (CMTC, n = 1), and phakomatosis pigmentovascularis (PPV, n = 1) were included. Three SW and 1 KTW patient had bilateral glaucoma. At presentation, mean age was 6.5 ± 9.1 months and mean intraocular pressure was 27.2 ± 6.13 mm Hg. The average number of surgical procedures per eye increased from 1.0 ± 0.5 (range, 0‒2) at less than 5 years' follow-up (9 eyes) to 3.5 ± 2.3 (range, 1‒7) with at least 5 years' follow-up (8 eyes). Visual acuity was better than or equal to 20/70 in 2 of 6 eyes (33%) with less than 5 years' follow-up and in 3 of 7 eyes (43%) with at least 5 years' follow-up. Additionally, a higher number of baseline risk factors correlated with poorer visual outcome. After a mean follow-up of 6.6 years, visual outcome in infantile-onset secondary glaucoma associated with cutaneous periocular vascular malformation is guarded. Increased numbers of baseline risk factors and procedures are associated with poorer vision. Copyright 2017 Asia-Pacific Academy of Ophthalmology.

Causes for Late onset Alcohol Use Disorder

DEFF Research Database (Denmark)

Emiliussen, Jakob; Nielsen, Anette Søgaard; Andersen, Kjeld

the studies. The results of this review are generally inconclusive. In spite of the low quality scores, we did find that chronic stress, role/identity loss and friends approval of drinking, was associated with an increased risk for late-onset AUD whereas retirement, death of spouse or close relative does...

Skin changes in internal malignancy

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Rajagopal Ravi

2004-07-01

Full Text Available BACKGROUND: Internal malignancies are accompanied by various skin changes which may be specific infiltrates or non-specific changes. This study is aimed at determining the frequency of such changes in malignant disease treatment center attendees in India. METHODS: A study of 300 confirmed cases of internal malignancy at a malignant disease treatment center was undertaken to evaluate these skin changes. Specific infiltrates were confirmed by histopathology. Statistical methods were employed to calculate significance in non-specific lesions by comparing with 300 controls not suffering from internal malignancy. RESULTS: Skin changes were present in 82 (27.3%. Cutaneous metastases were found in 19 (6.3%; non-contiguous in 5 (1.6%; contiguous in 14 (4.3%. Non-specific skin lesions numbered 74 (11.6% in 52 patients. Statistically significant non-specific skin changes were acquired ichthyosis, herpes zoster and generalized pruritus. CONCLUSION: Metastases usually occurred late in internal malignancy (17, 5.6% except in a case each of histiocytic lymphoma and non-Hodgkin′s lymphoma (2, 0.7% where the lesions preceded malignancy by 3 months and 1 month respectively. Contiguous nodules were a marker of relapse after surgery in 3 (1%.

A proposed management algorithm for late-onset efavirenz ...

African Journals Online (AJOL)

is metabolised in the liver via the cytochrome p450 system, predominantly via ... described late-onset ataxia and encephalopathy in adult patients treated with EFV for a .... not elicited. The findings on cranial nerve examination were normal.

Cutaneous malignant and premalignant conditions caused by chronic arsenicosis from contaminated ground water consumption: a profile of patients from eastern India.

Science.gov (United States)

Ghosh, Sudip Kumar; Bandyopadhyay, Debabrata; Bandyopadhyay, Samik Kumar; Debbarma, Kuntal

2013-01-01

Natural arsenic pollution is a major global health problem. The two worst affected areas e Bangladesh and West Bengal, India. Arsenic is a well-documented human carcinogen that affects many organs including the skin. The authors sought to find out the clinical patterns of different malignant and premalignant conditions associated with chronic arsenicosis from drinking contaminated ground water in a group of patients from eastern India. This was a clinical observational study. Patients with chronic arsenicoses with suspected cutaneous malignancies for whom dermatology service was sought were enrolled in the study. A total of 24 patients (male to female ratio, 11:1; age range, 32-71 years; mean age, 52.2 years) were evaluated. Squamous cell carcinoma (SCC) was the commonest malignancies in our series, seen in 10 (41.7%) patients. This was followed by Bowen's disease (9 [37.5%]) and basal cell carcinoma (8 [33.3%]). Three patients (12.5%) had > 1 type of cutaneous malignancies. Multicentric lesions were seen in 3 cases. The most common site of involvement was the chest (8 [33.3%]). No statistically significant correlation was found between number of lesions and arsenic content in the hairs and nails of the patients.

Functional impairments at school age of preterm born children with late-onset sepsis

NARCIS (Netherlands)

van der Ree, Meike; Tanis, Jozien C.; Van Braeckel, Koenraad N. J. A.; Bos, Arend F.; Roze, Elise

2011-01-01

Background: Late-onset sepsis is a relatively common complication particularly of preterm birth that affects approximately a quarter of very low birth weight infants. Aim: We aimed to determine the motor, cognitive, and behavioural outcome at school age of preterm children with late-onset sepsis

Late toxicity of proton beam therapy for patients with the nasal cavity, para-nasal sinuses, or involving the skull base malignancy: importance of long-term follow-up

International Nuclear Information System (INIS)

Zenda, Sadamoto; Kawashima, Mitsuhiko; Arahira, Satoko; Kohno, Ryosuke; Nishio, Teiji; Akimoto, Tetsuo; Tahara, Makoto; Hayashi, Ryuichi

2015-01-01

Although several reports have shown that proton beam therapy (PBT) offers promise for patients with skull base cancer, little is known about the frequency of late toxicity in clinical practice when PBT is used for these patients. Here, we conducted a retrospective analysis to clarify the late toxicity profile of PBT in patients with malignancies of the nasal cavity, para-nasal sinuses, or involving the skull base. Entry to this retrospective study was restricted to patients with (1) malignant tumors of the nasal cavity, para-nasal sinuses, or involving the skull base; (2) definitive or postoperative PBT (>50 GyE) from January 1999 through December 2008; and (3) more than 1 year of follow-up. Late toxicities were graded according to the common terminology criteria for adverse events v4.0 (CTCAE v4.0). From January 1999 through December 2008, 90 patients satisfied all criteria. Median observation period was 57.5 months (range, 12.4-162.7 months), median time to onset of grade 2 or greater late toxicity except cataract was 39.2 months (range, 2.7-99.8 months), and 3 patients had toxicities that occurred more than 5 years after PBT. Grade 3 late toxicities occurred in 17 patients (19%), with 19 events, and grade 4 late toxicities in 6 patients (7%), with 6 events (encephalomyelitis infection 2, optic nerve disorder 4). In conclusion, the late toxicity profile of PBT in patients with malignancy involving the nasal cavity, para-nasal sinuses, or skull base malignancy was partly clarified. Because late toxicity can still occur at 5 years after treatment, long-term follow-up is necessary. (author)

Unusual presentation of a late-onset recurrence of malignant peritoneal mesothelioma

NARCIS (Netherlands)

Wijnberge, Marije; Daniels, Lidewine; Cliteur, Vincent; Winkelhagen, Jasper

2017-01-01

A man aged 79 years with a history of malignant peritoneal mesothelioma presented 8 years after primary presentation with a suspected right-sided painful inguinal hernia and hydrocele, both present for 5 months. During surgery, however, the inguinal swelling appeared to be a tumour. Laboratory

Technical Aspects and Difficulties in the Management of Head and Neck Cutaneous Malignancies in Xeroderma Pigmentosum

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Serhat Sibar

2016-07-01

Full Text Available BackgroundXeroderma pigmentosum (XP is an autosomal recessive disorder characterized by xerosis, ultraviolet light sensitivity, and cutaneous dyspigmentation. Due to defects in their DNA repair mechanism, genetic mutations and carcinogenesis inevitably occurs in almost all patients. In these patients, reconstruction of cutaneous malignancies in the head and neck area is associated with some challenges such as likelihood of recurrence and an aggressive clinical course. The aim of this study is to discuss the therapeutic options and challenges commonly seen during the course of treatment.MethodsBetween 2005 and 2015, 11 XP patients with head and neck cutaneous malignancies were included in this study. Demographic data and treatment options of the patients were evaluated.ResultsThe mean age of the patients was 32 years (range, 10–43 (4 males, 7 females. The most common tumor type and location were squamous cell carcinoma (6 patients and the orbital region (4 patients, respectively. Free tissue transfer was the most commonly performed surgical intervention (4 patients. The average number of surgical procedures was 5.5 (range, 1–25. Six patients were siblings with each other, 5 patients had local recurrences, and one patient was lost to follow-up.ConclusionsAlthough genetic components of the disease have been elucidated, there is no definitive treatment algorithm. Early surgical intervention and close follow-up are the gold standard modalities due to the tendency toward rapid tumor growth and possible recurrence. Treatment must be individualized for each patient. In addition, the psychological aspect of the disease is an important issue for both patients and families.

Technical Aspects and Difficulties in the Management of Head and Neck Cutaneous Malignancies in Xeroderma Pigmentosum

Science.gov (United States)

Findikcioglu, Kemal; Erdal, Ayhan Isik; Barut, Ismail; Ozmen, Selahattin

2016-01-01

Background Xeroderma pigmentosum (XP) is an autosomal recessive disorder characterized by xerosis, ultraviolet light sensitivity, and cutaneous dyspigmentation. Due to defects in their DNA repair mechanism, genetic mutations and carcinogenesis inevitably occurs in almost all patients. In these patients, reconstruction of cutaneous malignancies in the head and neck area is associated with some challenges such as likelihood of recurrence and an aggressive clinical course. The aim of this study is to discuss the therapeutic options and challenges commonly seen during the course of treatment. Methods Between 2005 and 2015, 11 XP patients with head and neck cutaneous malignancies were included in this study. Demographic data and treatment options of the patients were evaluated. Results The mean age of the patients was 32 years (range, 10–43) (4 males, 7 females). The most common tumor type and location were squamous cell carcinoma (6 patients) and the orbital region (4 patients), respectively. Free tissue transfer was the most commonly performed surgical intervention (4 patients). The average number of surgical procedures was 5.5 (range, 1–25). Six patients were siblings with each other, 5 patients had local recurrences, and one patient was lost to follow-up. Conclusions Although genetic components of the disease have been elucidated, there is no definitive treatment algorithm. Early surgical intervention and close follow-up are the gold standard modalities due to the tendency toward rapid tumor growth and possible recurrence. Treatment must be individualized for each patient. In addition, the psychological aspect of the disease is an important issue for both patients and families. PMID:27462567

Cutaneous Presentation of Mesothelioma With a Sarcomatoid Transformation.

Science.gov (United States)

Klebanov, Nikolai; Reddy, Bobby Y; Husain, Sameera; Silvers, David N; Grossman, Marc E; Tsao, Hensin

2018-05-01

Malignant pleural mesothelioma is a rare neoplasm of mesodermal origin. Cutaneous involvement of malignant pleural mesothelioma is a very rare entity, with only 11 cases reported in the literature. Here, we describe the case of a 75-year-old man with stage IV epithelioid pleural mesothelioma, presenting with a cutaneous eruption 5 months after initial diagnosis, which revealed sarcomatoid features on skin biopsy. Histological analysis of malignancy progression through immunohistochemical staining of the pleural, lymph node, and skin tissue revealed gradual loss of calretinin and gain of desmin, supporting a transformation from epithelioid to sarcomatoid tissue. To our knowledge, this is the first reported case of an epithelioid to sarcomatoid transformation of malignant pleural mesothelioma manifesting in a cutaneous presentation.

The prediction of late-onset preeclampsia: Results from a longitudinal proteomics study.

Science.gov (United States)

Erez, Offer; Romero, Roberto; Maymon, Eli; Chaemsaithong, Piya; Done, Bogdan; Pacora, Percy; Panaitescu, Bogdan; Chaiworapongsa, Tinnakorn; Hassan, Sonia S; Tarca, Adi L

2017-01-01

Late-onset preeclampsia is the most prevalent phenotype of this syndrome; nevertheless, only a few biomarkers for its early diagnosis have been reported. We sought to correct this deficiency using a high through-put proteomic platform. A case-control longitudinal study was conducted, including 90 patients with normal pregnancies and 76 patients with late-onset preeclampsia (diagnosed at ≥34 weeks of gestation). Maternal plasma samples were collected throughout gestation (normal pregnancy: 2-6 samples per patient, median of 2; late-onset preeclampsia: 2-6, median of 5). The abundance of 1,125 proteins was measured using an aptamers-based proteomics technique. Protein abundance in normal pregnancies was modeled using linear mixed-effects models to estimate mean abundance as a function of gestational age. Data was then expressed as multiples of-the-mean (MoM) values in normal pregnancies. Multi-marker prediction models were built using data from one of five gestational age intervals (8-16, 16.1-22, 22.1-28, 28.1-32, 32.1-36 weeks of gestation). The predictive performance of the best combination of proteins was compared to placental growth factor (PIGF) using bootstrap. 1) At 8-16 weeks of gestation, the best prediction model included only one protein, matrix metalloproteinase 7 (MMP-7), that had a sensitivity of 69% at a false positive rate (FPR) of 20% (AUC = 0.76); 2) at 16.1-22 weeks of gestation, MMP-7 was the single best predictor of late-onset preeclampsia with a sensitivity of 70% at a FPR of 20% (AUC = 0.82); 3) after 22 weeks of gestation, PlGF was the best predictor of late-onset preeclampsia, identifying 1/3 to 1/2 of the patients destined to develop this syndrome (FPR = 20%); 4) 36 proteins were associated with late-onset preeclampsia in at least one interval of gestation (after adjustment for covariates); 5) several biological processes, such as positive regulation of vascular endothelial growth factor receptor signaling pathway, were perturbed; and 6

The Role of Fundus Autofluorescence in Late-Onset Retinitis Pigmentosa (LORP) Diagnosis

Science.gov (United States)

Lee, Tamara J.; Hwang, John C.; Chen, Royce W. S.; Lima, Luiz H.; Wang, Nan-Kai; Tosi, Joaquin; Freund, K. Bailey; Yannuzzi, Lawrence A.; Tsang, Stephen H.

2015-01-01

Purpose To demonstrate the utility and characteristics of fundus autofluorescence in late-onset retinitis pigmentosa. Methods Observational case series. Patients diagnosed with late-onset retinitis pigmentosa were identified retrospectively in an institutional setting. Twelve eyes of six patients were identified and medical records were reviewed. Results All patients presented with slowly progressive peripheral field loss and initial clinical examination revealed only subtle retinal changes. There was a notable lack of intraretinal pigment migration in all patients. Five out of six patients underwent magnetic resonance imaging of the brain to rule out intracranial processes and all were referred from another ophthalmologist for further evaluation. Fundus autofluorescence was ultimately employed in all patients and revealed more extensive retinal pathology than initially appreciated on clinical examination. Fundus autofluorescence directed the workup toward a retinal etiology in all cases and led to the eventual diagnosis of late-onset retinitis pigmentosa through electroretinogram testing. Conclusion Fundus autofluorescence may be a more sensitive marker for retinal pathology than stereo fundus biomicroscopy alone in late-onset retinitis pigmentosa. Early use of fundus autofluorescence imaging in the evaluation of patients with subtle retinal lesions and complaints of peripheral field loss may be an effective strategy for timely and cost-efficient diagnosis. PMID:23899229

Late-Onset Hearing Loss: Strategies for Effective Counseling.

Science.gov (United States)

Smith, S. Mae; Kampfe, Charlene M.

1999-01-01

Late-onset hearing loss is one of the major chronic conditions experienced by older individuals. The term "presbycusis" is typically used when describing this condition. Presbycusis refers to many degenerative changes that affect older people's hearing. This article provides practical suggestions for working with persons with this…

The prediction of late-onset preeclampsia: Results from a longitudinal proteomics study

Science.gov (United States)

Erez, Offer; Romero, Roberto; Maymon, Eli; Chaemsaithong, Piya; Done, Bogdan; Pacora, Percy; Panaitescu, Bogdan; Chaiworapongsa, Tinnakorn; Hassan, Sonia S.

2017-01-01

Background Late-onset preeclampsia is the most prevalent phenotype of this syndrome; nevertheless, only a few biomarkers for its early diagnosis have been reported. We sought to correct this deficiency using a high through-put proteomic platform. Methods A case-control longitudinal study was conducted, including 90 patients with normal pregnancies and 76 patients with late-onset preeclampsia (diagnosed at ≥34 weeks of gestation). Maternal plasma samples were collected throughout gestation (normal pregnancy: 2–6 samples per patient, median of 2; late-onset preeclampsia: 2–6, median of 5). The abundance of 1,125 proteins was measured using an aptamers-based proteomics technique. Protein abundance in normal pregnancies was modeled using linear mixed-effects models to estimate mean abundance as a function of gestational age. Data was then expressed as multiples of-the-mean (MoM) values in normal pregnancies. Multi-marker prediction models were built using data from one of five gestational age intervals (8–16, 16.1–22, 22.1–28, 28.1–32, 32.1–36 weeks of gestation). The predictive performance of the best combination of proteins was compared to placental growth factor (PIGF) using bootstrap. Results 1) At 8–16 weeks of gestation, the best prediction model included only one protein, matrix metalloproteinase 7 (MMP-7), that had a sensitivity of 69% at a false positive rate (FPR) of 20% (AUC = 0.76); 2) at 16.1–22 weeks of gestation, MMP-7 was the single best predictor of late-onset preeclampsia with a sensitivity of 70% at a FPR of 20% (AUC = 0.82); 3) after 22 weeks of gestation, PlGF was the best predictor of late-onset preeclampsia, identifying 1/3 to 1/2 of the patients destined to develop this syndrome (FPR = 20%); 4) 36 proteins were associated with late-onset preeclampsia in at least one interval of gestation (after adjustment for covariates); 5) several biological processes, such as positive regulation of vascular endothelial growth factor

Identifying Risk Factors for Late-Onset (50+) Alcohol Use Disorder and Heavy Drinking: A Systematic Review.

Science.gov (United States)

Emiliussen, Jakob; Nielsen, Anette Søgaard; Andersen, Kjeld

2017-10-15

This systematic review seeks to expand the description and understanding of late-onset AUD and asks "Which risk factors have been reported for late-onset heavy drinking and AUD?" Using PRISMA guidelines, a literature review and search was performed on May 19, 2015 using the following databases: MEDLINE, EMBASE, PubMed, and PsychInfo. Nine studies were included in the final review. The search revealed that only very few studies have been conducted. Hence, the evidence is limited but suggests that stress, role/identity loss, and friends' approval of drinking are associated with an increased risk for late-onset AUD or heavy drinking, whereas retirement, death of a spouse or a close relative does not increase the risk. Inherent differences in measurements and methodologies precluded a meta-analysis. Therefore, the results presented here are descriptive in nature. Most studies base their conclusions on a certain preconception of older adults with alcohol problems, which leads to a row of circular arguments. The factors that have been measured seem to have changed over time. There has been a lack of focus on the field of late-onset AUD since the 1970s, which possibly has led to misrepresentations and preconceptions on the complex nature of late-onset AUD. There is limited evidence for any specific risk factor for late-onset AUD or heavy drinking. We suggest the adoption of a qualitative approach to uncover what is intrinsic to late-onset AUD followed by quantitative studies with more agreement on methods and definitions.

Prevalence of Comorbidity in Patients With Young-Onset Alzheimer Disease Compared With Late-Onset: A Comparative Cohort Study

NARCIS (Netherlands)

Gerritsen, A.A.J.; Bakker, C.; Verhey, F.R.J.; Vugt, M.E. de; Melis, R.J.; Koopmans, R.T.

2016-01-01

OBJECTIVES: With the lack of a cure for Alzheimer disease (AD), the identification of comorbidity is important to reduce the possibility of excess disability. Although comorbidity in patients with late-onset AD (LO-AD) is common, for people with young-onset AD (YO-AD), it is unclear how often

Very Late-Onset Friedreich Ataxia with Laryngeal Dystonia

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Silvia Rota

2014-12-01

Full Text Available Friedreich ataxia (FRDA is an autosomal recessive neurodegenerative disorder characterized by progressive gait and limb ataxia, cerebellar, pyramidal and dorsal column involvement, visual defects, scoliosis, pes cavus and cardiomyopathy. It is caused by a homozygous guanine-adenine-adenine (GAA trinucleotide repeat expansion in intron 1 of the frataxin gene (FXN on chromosome 9q13-q21.1. Onset is usually in the first or second decade of life; however, late-onset cases of Freidreich ataxia (LOFA, after the age of 25 years, and very late-onset cases of Freidreich ataxia (VLOFA, after the age of 40 years, have been reported. VLOFA is quite rare and usually presents a milder progression of the disease. We report the case of a 64-year-old woman affected with VLOFA whose first symptoms (balance and gait disturbances occurred at the age of 44 years. At the age of 62 years, she started complaining of a slowly progressive dysphonia showing the clinical aspects of laryngeal dystonia. Molecular analysis showed a 210- and 230-trinucleotide GAA repeat expansion in the two alleles of the FXN gene. Laryngeal dystonia has been reported only in very few cases of ataxia syndrome and never before in FRDA patients. It may represent a rare clinical manifestation of VLOFA thus confirming the high variability of the clinical spectrum of FRDA.

Late-onset Bartter syndrome type II.

Science.gov (United States)

Gollasch, Benjamin; Anistan, Yoland-Marie; Canaan-Kühl, Sima; Gollasch, Maik

2017-10-01

Mutations in the ROMK1 potassium channel gene ( KCNJ1 ) cause antenatal/neonatal Bartter syndrome type II (aBS II), a renal disorder that begins in utero , accounting for the polyhydramnios and premature delivery that is typical in affected infants, who develop massive renal salt wasting, hypokalaemic metabolic alkalosis, secondary hyperreninaemic hyperaldosteronism, hypercalciuria and nephrocalcinosis. This BS type is believed to represent a disorder of the infancy, but not in adulthood. We herein describe a female patient with a remarkably late-onset and mild clinical manifestation of BS II with compound heterozygous KCNJ1 missense mutations, consisting of a novel c.197T > A (p.I66N) and a previously reported c.875G > A (p.R292Q) KCNJ1 mutation. We implemented and evaluated the performance of two different bioinformatics-based approaches of targeted massively parallel sequencing [next generation sequencing (NGS)] in defining the molecular diagnosis. Our results demonstrate that aBS II may be suspected in patients with a late-onset phenotype. Our experimental approach of NGS-based mutation screening combined with Sanger sequencing proved to be a reliable molecular approach for defining the clinical diagnosis in our patient, and results in important differential diagnostic and therapeutic implications for patients with BS. Our results could have a significant impact on the diagnosis and methodological approaches of genetic testing in other patients with clinical unclassified phenotypes of nephrocalcinosis and congenital renal electrolyte abnormalities.

Differential Disease Progression in Atrophic Age-Related Macular Degeneration and Late-Onset Stargardt Disease.

Science.gov (United States)

Lindner, Moritz; Lambertus, Stanley; Mauschitz, Matthias M; Bax, Nathalie M; Kersten, Eveline; Lüning, Anna; Nadal, Jennifer; Schmitz-Valckenberg, Steffen; Schmid, Matthias; Holz, Frank G; Hoyng, Carel B; Fleckenstein, Monika

2017-02-01

To compare the disease course of retinal pigment epithelium (RPE) atrophy secondary to age-related macula degeneratio (AMD) and late-onset Stargardt disease (STGD1). Patients were examined longitudinally by fundus autofluorescence, near-infrared reflectance imaging, and best-corrected visual acuity (BCVA). Areas of RPE atrophy were quantified using semi-automated software, and the status of the fovea was evaluated based on autofluorescence and near-infrared reflectance images. Mixed-effects models were used to compare atrophy progression rates. BCVA loss and loss of foveal integrity were analyzed using Turnbull's estimator. A total of 151 patients (226 eyes) with RPE atrophy secondary to AMD and 38 patients (66 eyes) with RPE atrophy secondary to late-onset STGD1 were examined for a median time of 2.3 years (interquartile range, 2.7). Mean baseline age was 74.2 years (SD, 7.6) in AMD and 63.4 (SD, 9.9) in late-onset STGD1 (P = 1.1 × 10-7). Square root atrophy progression was significantly faster in AMD when compared with late-onset STGD1 (0.28 mm/year [SE, 0.01] vs. 0.23 [SE, 0.03]; P = 0.030). In late-onset STGD1, the median survival of the fovea was significantly longer when compared with eyes with AMD (8.60 vs. 3.35 years; P = 0.005) with a trend to a later BCVA loss of ≥3 lines (5.97 vs. 4.37 years; P = 0.382). These natural history data indicate differential disease progression in AMD versus late-onset STGD1. The results underline the relevance of refined phenotyping in elderly patients presenting with RPE atrophy in regard to prognosis and design of interventional trials.

Malignancies in Patients with Anti-RNA Polymerase III Antibodies and Systemic Sclerosis: Analysis of the EULAR Scleroderma Trials and Research Cohort and Possible Recommendations for Screening.

Science.gov (United States)

Lazzaroni, Maria-Grazia; Cavazzana, Ilaria; Colombo, Enrico; Dobrota, Rucsandra; Hernandez, Jasmin; Hesselstrand, Roger; Varju, Cecilia; Nagy, Gabriella; Smith, Vanessa; Caramaschi, Paola; Riccieri, Valeria; Hachulla, Eric; Balbir-Gurman, Alexandra; Chatelus, Emmanuel; Romanowska-Próchnicka, Katarzyna; Araújo, Ana Carolina; Distler, Oliver; Allanore, Yannick; Airò, Paolo

2017-05-01

To analyze the characteristics of anti-RNA polymerase III antibodies (anti-RNAP3)- positive patients with systemic sclerosis (SSc) in the European League Against Rheumatism Scleroderma Trials and Research group (EUSTAR) registry with a focus on the risk of cancer and the characteristics of malignancies, and the aim to provide guidelines about potential cancer screening in these patients. (1) Analysis of the EUSTAR database: 4986 patients with information on their anti-RNAP3 status were included. (2) Case-control study: additional retrospective data, including malignancy history, were queried in 13 participating EUSTAR centers; 158 anti-RNAP3+ cases were compared with 199 local anti-RNAP3- controls, matched for sex, cutaneous subset, disease duration, and age at SSc onset. (3) A Delphi exercise was performed by 82 experts to reach consensus for cancer screening in anti-RNAP3+ patients. In the EUSTAR registry, anti-RNAP3 were associated in multivariable analysis with renal crisis and diffuse cutaneous involvement. In the case-control study, anti-RNAP3 were associated with gastric antral vascular ectasia, rapid progression of skin involvement, and malignancies concomitant to SSc onset (OR 7.38, 95% CI 1.61-33.8). When compared with other anti-RNAP3+ patients, those with concomitant malignancies had older age (p < 0.001) and more frequent diffuse cutaneous involvement (p = 0.008). The Delphi exercise highlighted the need for malignancy screening at the time of diagnosis for anti-RNAP3+ patients and tight followup in the following years. Anti-RNAP3+ patients with SSc have a high risk of concomitant malignancy. These results have implications for clinical practice and suggest regular screening for cancer in anti-RNAP3+ patients.

Screening for late-onset Pompe disease in western Denmark

DEFF Research Database (Denmark)

Hansen, Julie Schjødtz; Pedersen, E G; Gaist, D

2018-01-01

OBJECTIVE: Late-onset Pompe disease (LOPD) is a rare autosomal recessively inherited metabolic myopathy caused by reduced activity of the lysosomal enzyme alpha-glucosidase. In a previous screening study at two large neuromuscular university clinics in Denmark, three patients with LOPD were...

A novel xenograft model of cutaneous T-cell lymphoma

DEFF Research Database (Denmark)

Krejsgaard, Thorbjørn; Kopp, Katharina; Ralfkiaer, Elisabeth

2010-01-01

Cutaneous T-cell lymphomas (CTCLs) are characterized by accumulation of malignant T cells in the skin. Early disease resembles benign skin disorders but during disease progression cutaneous tumors develop, and eventually the malignant T cells can spread to lymph nodes and internal organs. However...... and lymphatic tumors, originated from the transplanted malignant T cells. In conclusion, we describe a novel mouse model of tumor stage CTCL for future studies of disease dissemination and preclinical evaluations of new therapeutic strategies....

Can Mustard Gas Induce Late Onset Polyneuropathy?

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SJ. Mousavi

2007-11-01

Full Text Available Background:Mustard gas, lethal in high doses, affects multiple organs such as skin, eye and respiratory system. We studied the development of late onset mustardinduced polyneuropathy among chemically wounded Iranian veterans.Methods:In this descriptive study,100 chemically wounded Iranian veterans with severe eye involvement were examined for any signs and symptoms of polyneuropathy by an internist.20 patients were suspected to have neurological symptoms or signs.These patients were examined by a neurologist again. 13 showed abnormal neurological symptoms. Electrodiagnostic exams were performed for this group by another physician.Results:13 veterans had abnormal neurological exam results with prominent sensory signs and symptoms in almost all of them. Brisk deep tendon reflexes were found in 3 cases. Electrodiagnostic studies were compatible with axonal type distal sensory polyneuropathy in 6 subjects. Conclusion: To the best of our knowledge, this is the first report of late onset polyneuropathy among chemically-wounded victims who were exposed to mustard gas. The pathophysiology of this form of neuropathy is still unknown. Unlike most toxic neuropathies,obvious clinical signs and symptoms appeared several years after exposure. No specific treatment for.polyneuropathy due to chemical weapons exposure has been described to date.

Cutaneous Carcinosarcoma with Metastasis to the Parotid Gland

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Tze Ling Loh

2014-01-01

Full Text Available Cutaneous carcinosarcoma is a rare malignancy that exhibits both mesenchymal and epithelial components. It is similar to nonmelanoma skin cancers in terms of risk and prognostic factors. However, these malignancies are known to have a propensity for local recurrence and metastasis, even with adequate resection margins. Here we report a case of metastatic cutaneous carcinosarcoma to the parotid gland and review the relevant literature.

Cutaneous Carcinosarcoma with Metastasis to the Parotid Gland

OpenAIRE

Loh, Tze Ling; Tomlinson, Jeanne; Chin, Ronald; Eslick, Guy D.

2014-01-01

Cutaneous carcinosarcoma is a rare malignancy that exhibits both mesenchymal and epithelial components. It is similar to nonmelanoma skin cancers in terms of risk and prognostic factors. However, these malignancies are known to have a propensity for local recurrence and metastasis, even with adequate resection margins. Here we report a case of metastatic cutaneous carcinosarcoma to the parotid gland and review the relevant literature.

ASSESSMENT OF OXIDATIVE STRESS IN EARLY AND LATE ONSET PRE-ECLAMPSIA AMONG GHANAIAN WOMEN.

Science.gov (United States)

Tetteh, P W; Adu-Bonsaffoh, K; Antwi-Boasiako, C; Antwi, D A; Gyan, B; Obed, S A

2015-01-01

Pre-eclampsia is a multisystem pregnancy-related disorder with multiple theories regarding its aetiology resulting in lack of reliable screening tests and well-established measures for primary prevention. However, oxidative stress is increasingly being implicated in the pathogenesi of pre-eclampsia although conflicting findings have been reported. To determine and compare the levels of oxidative stress in early and late onset pre-eclampsia by measuring urinary excretion of isoprostane and total antioxidant power (TAP) in a cohort of pre-eclamptic women at Korle Bu Teaching Hospital. This was a cross-sectional study conducted at Korle-Bu Teaching Hospital, Accra, Ghana involving pre-eclamptic women between the ages 18 and 45 years who gave written informed consent. Urinary isoprostane levels were determined using an enzyme-linked immunosorbent assay (ELISA) kit whereas the Total Anti-oxidant Power in urine samples was determined using Total Antioxidant Power Colorimetric Microplate Assay kit. The data obtained were analyzed using MEGASTAT statistical software package. We included 102 pre-eclamptic women comprising 68 (66.7%) and 34 (33.3%) with early-onset and late-onset pre-eclampsia respectively. There were no statistically significant differences between the mean maternal age, haematological indices, serum ALT, AST, ALT, albumin, urea, creatinine uric acid and total protein at the time of diagnosis. The mean gestational age at diagnosis of early and late onset pre-eclampsia were 31.65 ± 0.41 and 38.03 ± 0.21 respectively (p ˂ 0.001). Also, there were statistically significant differences between the diastolic blood pressure (BP), systolic BP and mean arterial pressure (MAP) at diagnosis of pre-eclampsia in the two categories. The mean urinary Isoprostane excretion was significantly higher in the early onset pre-eclamptic group (3.04 ± 0.34 ng/mg Cr) compared to that of the late onset pre-eclamptic group (2.36 ± 0.45 ng/mg Cr), (p=0.019). Urinary total

Malignancy arising within cutaneous tattoos: case of dermatofibrosarcoma protuberans and review of literature.

Science.gov (United States)

Reddy, Kavitha K; Hanke, C William; Tierney, Emily P

2011-08-01

Dermatofibrosarcoma protuberans (DFSP) is an uncommon tumor of the skin with high rates of local recurrence. Several reports describe a frequent history of local trauma. In one prior case, a DFSP arising in a tattoo site has been reported. Mohs micrographic surgery (MMS) has been used successfully for treatment. To present a case of dermatofibrosarcoma protuberans arising in the site of a prior and current tattoo, and treated with Mohs micrographic surgery. We present findings of a case of a DFSP arising in a tattoo and a review of Medline literature on the association between tattoos and cutaneous malignancy, and treatment of DFSP with MMS. Review of the literature confirms multiple reports of DFSP arising in sites of local trauma, as well as malignancies arising in sites of tattoos. The recurrence rate for MMS treatment of DFSP (0-6.6%) was found to be significantly lower than that for patients treated with wide local excision (13% to 95%). DFSP should be considered in the differential diagnosis of neoplasms arising within areas of tattoos. Sites of local trauma and tattoos may show predilection for benign and malignant changes and should be evaluated during regular skin exams. Review of the literature confirms MMS is an ideal treatment modality for DFSP as the tumor often extends far beyond clinical margins.

Cutaneous Squamous Cell Carcinoma.

Science.gov (United States)

Parekh, Vishwas; Seykora, John T

2017-09-01

Cutaneous squamous cell carcinoma (cSCC) is a malignant neoplasm of the skin characterized by an aberrant proliferation of keratinocytes. Cutaneous SCC is the second most common malignancy globally, and usually arises in the chronically sun-damaged skin of elderly white individuals. From a pathologist's perspective, it is important to differentiate cSCC from the benign and reactive squamoproliferative lesions and identify the high-risk features associated with aggressive tumor behavior. In this article, we provide an up-to-date overview of cSCC along with its precursor lesions and important histologic variants, with a particular emphasis on the histopathologic features and molecular pathogenesis. Copyright © 2017 Elsevier Inc. All rights reserved.

Late-onset incontinence in a cohort of radical prostatectomy patients

International Nuclear Information System (INIS)

Naselli, A.; Introini, C.; Andreatta, R.; Puppo, P.; Simone, G.; Papalia, R.; Gallucci, M.

2011-01-01

A cohort of 235 subjects, who underwent radical prostatectomy from 1994 to 2002, completely continent at the 2-year follow up and with the last follow-up visit in 2009, was examined to assess incidence and risk factors of late-onset incontinence. Median follow up was 100 months, range 84-176. At the last follow-up visit, 209 (89%) maintained continence, and 26 (11%) became incontinent. Specifically 14 out of 26 (6%) used one pad and 12 (5%) used two or more pads daily. Incidence of age ≥65 years at radical prostatectomy was greater in the subgroup who developed late incontinence, 109/209 (52%) vs 19/26 (73%). Incidence of adjuvant or salvage radiotherapy, of hormonal manipulation and of extraprostatic disease was similar in the two subgroups. Univariate and multivariate analysis did not disclose any difference. Late-onset incontinence is to be expected in about 10% of subjects who became completely continent after radical prostatectomy. The cause is likely to be related to ageing. Patients should be informed about the long-term risk of becoming incontinent. (author)

Late-Onset Startle Syndrome and Obsessive Compulsive Disorder

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Alejandro Gonzalez

1998-01-01

Full Text Available A case of late onset sporadic startle syndrome in a patient with a right posterior fossa brain tumour is reported. The exaggerated startle response did not respond to treatment with clonazepam. In addition to anxiety and depression, the patient developed obsessive- compulsive symptoms which responded to behavioural therapy. The possible mechanisms for this unique pattern of symptoms are discussed.

Late-onset acute rejection after living donor liver transplantation

Institute of Scientific and Technical Information of China (English)

Nobuhisa Akamatsu; Yasuhiko Sugawara; Sumihito Tamura; Junichi Keneko; Yuichi Matsui; Kiyoshi Hasegawa; Masatoshi Makuuchi

2006-01-01

AIM: To investigate the incidence and risk factors of late-onset acute rejection (LAR) and to clarify the effectiveness of our immunosuppressive regime consisting of life-long administration of tacrolimus and steroids.METHODS: Adult living donor liver transplantation recipients (n = 204) who survived more than 6 mo after living donor liver transplantation were enrolled.Immunosuppression was achieved using tacrolimus and methylprednisolone. When adverse effects of tacrolimus were detected, the patient was switched to cyclosporine. Six months after transplantation,tacrolimus or cyclosporine was carefully maintained at a therapeutic level. The methylprednisolone dosage was maintained at 0.05 mg/kg per day by oral administration.Acute rejections that occurred more than 6 mo after the operation were defined as late-onset. The median followup period was 34 mo.RESULTS: LAR was observed in 15 cases (7%) and no chronic rejection was observed. The incidence of hyperlipidemia, chronic renal failure, new-onset posttransplantation diabetes, and deep fungal infection were 13%, 2%, 24%, and 17%, respectively. Conversion from tacrolimus to cyclosporine was required in 38 patients (19%). Multivariate analysis revealed that a cyclosporinebased regimen was significantly associated with LAR.CONCLUSION: Both LAR and drug-induced adverse events happen at a low incidence, supporting the safety and efficacy of the present immunosuppression regimen for living donor liver transplantation.

Late-Onset Psychogenic Chronic Phonic-Tics.

Science.gov (United States)

Vale, Thiago Cardoso; Pedroso, José Luiz; Knobel, Marcos; Knobel, Elias

2016-01-01

Tics beginning in late adulthood often have an identifiable etiology. Psychogenic tics with onset around 60 years of age are rarely described in the literature. A 67-year-old female had experienced phonic tics for 8 years. Episodes occurred without premonitory sensations and precipitant factors, and she could not suppress them. She had no history of childhood tic disorder, and secondary causes of tics were excluded. She was diagnosed with psychogenic tics and treated with quetiapine with mild improvement. When physicians are faced with no identifiable cause of tics combined with certain clinical clues, a psychogenic disorder must be suspected.

The measurement of constitutive and facultative skin pigmentation and estimation of sun exposure in Caucasians with basal cell carcinoma and cutaneous malignant melanoma

DEFF Research Database (Denmark)

Lock-Andersen, J; Drzewiecki, K T; Wulf, H C

1998-01-01

In two identical and simultaneously performed case-control studies of basal cell carcinoma (BCC) and cutaneous malignant melanoma (CMM) with age-matched, sex-matched and residence-matched controls, skin pigmentation was measured objectively by skin reflectance spectroscopy in 145 BCC patients...

Late onset Pompe disease- new genetic variant: Case report ...

African Journals Online (AJOL)

The patient was not given enzyme replacement therapy due to cost but received high protein therapy and Oxygen supplementation using Oxygen extractor machine. She is worsening due to respiratory failure. Conclusion: This is a new genetic variant isolated of late-onset Pompe disease which presents with almost pure ...

Neonatal adrenal hemorrhage presenting as late onset neonatal jaundice

OpenAIRE

Qureshi, Umar Amin; Ahmad, Nisar; Rasool, Akhter; Choh, Suhail

2009-01-01

Clinical manifestations of adrenal hemorrhage vary depending on the degree and rate of hemorrhage, as well as the amount of adrenal cortex compromised by hemorrhage. We report here a case of neonatal adrenal hemorrhage that presented with late onset neonatal jaundice. The cause of adrenal hemorrhage was birth asphyxia.

Allele doses of apolipoprotein E type {epsilon}4 in sporadic late-onset Alzheimer`s disease

Energy Technology Data Exchange (ETDEWEB)

Lucotte, G.; Aouizerate, A.; Gerard, N. [Regional Center of Neurogenetics, Paris (France)] [and others

1995-12-18

Apoliprotein E, type {epsilon}4 allele (ApoE-{epsilon}4) is associated with late-onset sporadic Alzheimer`s disease (AD). We have found that the cumulative probability of remaining unaffected over time decreases for each dose of ApoE-{epsilon}4 in sporadic, late-onset French AD. The effect of genotypes on age at onset of AD was analyzed using the product limit method, to compare unaffected groups during aging. 26 refs., 2 figs., 1 tab.

Late-onset urea cycle disorder in adulthood unmasked by severe malnutrition.

Science.gov (United States)

Wells, Diana L; Thomas, Jillian B; Sacks, Gordon S; Zouhary, L Anna

2014-01-01

Urea cycle disorders (UCDs) most often involve inherited deficiencies in genes that code for enzymes normally used by the urea cycle to breakdown nitrogen. UCDs lead to serious metabolic complications, including severe neurologic decompensation related to hyperammonemia. Although the majority of UCDs are revealed soon after birth, stressful events in adulthood can lead to unmasking of a partial, late-onset UCDs. In this report, we describe a late-onset UCD unmasked by severe malnutrition. Early, specialized nutrition therapy is a fundamental aspect of treating hyperammonemic crises in patients with UCD. The case presented here demonstrates the importance of early recognition of UCD and appropriate interventions with nutrition support. Copyright © 2014 Elsevier Inc. All rights reserved.

Successful management of late-onset Streptococcus mitis endophthalmitis

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Chon J

2017-10-01

Full Text Available Jinmann Chon,1 Moosang Kim2 1Department of Rehabilitation Medicine, Kyung Hee University Hospital, Kyung Hee University School of Medicine, Seoul, 2Department of Ophthalmology, School of Medcine, Kangwon National University, Chuncheon, Korea Abstract: Endophthalmitis following intraocular surgery can be devastating. This case report demonstrates successful management of late-onset Streptococcus mitis endophthalmitis treated by vitrectomy, panretinal photocoagulation (PRP and silicone oil tamponade. A 75-year-old man presented with painful vision loss in his right eye. The patient had uneventful phacoemulsification and intraocular lens implantation in the right eye at an outside clinic 6 weeks prior. Examination disclosed hypopyon and vitritis, as well as discrete inflammatory collections in the vitreous. The patient underwent vitrectomy with PRP and silicone oil tamponade. Vitreous cultures were positive for S. mitis, a pathogen associated with severe tissue damage and poor clinical outcomes. One month after the surgery, intraocular inflammation was stabilized, and visual acuity was improved from light perception to 20/200. Aggressive surgical management may play a role in improving outcomes in these patients. Keywords: late-onset endophthalmitis, Streptococcus mitis, vitrectomy 

Hyperammonemic coma in a patient with late-onset OTC deficiency

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V. D’Onofrio

2014-06-01

Full Text Available Urea Cycle Disorders ( UCD are among the most common genetic diseases of the metabolism and ornithine transcarbamylase deficiency (OTC, an X-linked defect is the most frequent among them. It is responsible for hyperammonemia that can lead to chronic neurological illness and potentially to death in case of delayed diagnosis and treatment. With regards to the OTC deficiency there is great clinical heterogeneity with early-onset phenotypes with mostly poor prognosis and late-onset phenotypes with a better one. In the article it is reported the case of a 8 years old patient with diagnosis of OTC deficit with late-onset phenotype. The kid was brought to our hospital because of continuous vomiting and gastro- intestinal disorders, associated with irritability and lethargy later resulted into coma. Measurement of plasma ammonia concentration, followed by measurement of plasma amino acid and urine orotic acid levels allowed to diagnose the OTC deficit, lately confirmed by molecular genetic studies. The patient has been promptly treated with Sodium Phenylbutyrate, Arginine and discontinuing the protein intake. Gradually the ammonemia value decreased, and general and neurological conditions improved with resolution of the coma. To conclude, for patients presenting unexplained neurological symptoms, confusion and decreased level of consciousness, up to coma, urea cycle disorders and in particularly OTC deficiency should be considered in the differential diagnosis and an urgent ammonia level determined. In case of hyperammonemia, the treatment should be started immediately , even without a precise ethiologic diagnosis.

Vasoactive agents for the prediction of early- and late-onset preeclampsia in a high-risk cohort

Science.gov (United States)

2013-01-01

Background To evaluate the soluble fms-like tyrosine kinase-1 (sFlt-1), placental growth factor (PlGF), and sFlt-1/PlGF ratio for the prediction of early- and late-onset preeclampsia in a high-risk cohort. Methods We studied serial serum samples collected prospectively at 12 + 0 - 14 + 0, 18 + 0 - 20 + 0, and 26 + 0 - 28 + 0 weeks + days of gestation in 6 women who developed early-onset preeclampsia (before 34 weeks of gestation) and in 21 women who developed late-onset preeclampsia (after 34 weeks of gestation) with automated ElecSys 2010 immunoanalyzer (Roche Diagnostics, Germany). Twenty-six high-risk women and 53 women without risk factors with normal pregnancies served as controls. Results Serum PlGF concentrations were lower at 18 + 0 to 20 + 0, and 26 + 0 to 28 + 0 weeks of gestation in women who developed early-onset preeclampsia compared to women who developed late-onset preeclampsia and to controls (p preeclampsia (AUC 100.0%, p = 0.0007, 95% CI 100–100). Amongst women with late-onset preeclampsia, those who developed severe form of the disease (N = 8) had significantly higher serum sFlt-1 concentrations at all three timepoints (p = 0.004, p = 0.006, and p = 0.003, respectively) compared to women with non-severe form (N = 13). Conclusions Low serum PlGF concentration predicts early-onset preeclampsia from the second trimester and elevated serum sFlt-1/PlGF ratio from 26 to 28 weeks of gestation. Elevated serum sFlt-1 concentration in the first trimester in women who later develop late-onset, severe preeclampsia may suggest different etiology compared to the late-onset non-severe form of the disease. PMID:23663420

Childhood and Adolescent Predictors of Late Onset Criminal Careers

Science.gov (United States)

Zara, Georgia; Farrington, David P.

2009-01-01

This study explores the emergence of a criminal career in adulthood. The main hypothesis tested is that late criminal onset (at age 21 or later) is influenced by early factors that delay antisocial manifestations. The Cambridge Study in Delinquent Development (CSDD) was used to examine early determinants of criminal behavior. 400 Inner London…

Late-onset 3 beta-hydroxysteroid dehydrogenase deficiency with virilization induced by a large ovarian cyst.

Science.gov (United States)

Heinrich, U; Eberlein-Gonska, M; Benz, G; Haack, D; Otto, H F

1993-01-01

A midpubertal girl presented with secondary amenorrhea and a rapidly progressive deepening of her voice as the only signs of virilization. Diagnostic work-up yielded an extremely elevated plasma testosterone (289 ng/dl), low estradiol (29 pg/ml) levels and a large solitary cyst of the right ovary, which was totally removed. Pathohistology was in keeping with a granulosa cyst with mild luteinization. Normalization of testosterone (to 27.3 ng/dl) and estradiol (to 62 pg/ml) and resumption of regular menses after 2 months clearly indicated an autonomous function of the cyst. A malignant tumor was unequivocally excluded. Basal and ACTH stimulated levels of adrenal androgens pointed to a late-onset 3 beta-hydroxysteroid dehydrogenase deficiency, which per se is known to induce polycystic ovarian changes, but to date has never been described to be accompanied with a large and autonomous follicular cyst.

Effectiveness of muscle coverage to manage osteomyelitis of very late onset in the irradiated chest wall

International Nuclear Information System (INIS)

Funayama, Emi; Minakawa, Hidehiko; Otani, Hidekazu; Saito, Noriko; Oyama, Akihiko; Furukawa, Hiroshi; Hayashi, Toshihiko; Saito, Akira; Yamamoto, Yuhei

2012-01-01

Radiation therapy for breast cancer has improved survival rates; however, a consequence of this is treatment-induced complications in longer-living patients. Decades after chest wall irradiation, very late onset radiation-induced osteomyelitis can develop, caused by osteoradionecrosis. This may lead to the development of small, but very refractory, skin ulcers. Many reports recommend well-vascularized tissue coverage after appropriate debridement for irradiation ulcers; however, when the ulcers are of very late onset, this sometimes causes recurrence of ulceration in non-muscle-covered areas after flap transfer. Thus, for very late onset cases, we propose treatment with an absolute muscle flap to cover both the obviously infected focus and the surrounding irradiated area. A muscle flap consisting of the entire latissimus dorsi, the shape of which is very large in the horizontal direction, satisfies this requirement. Latissimus dorsi muscle coverage for the treatment of very late onset osteomyelitis should be reappraised. (author)

VARIED MALIGNANT PRESENTATIONS IN A SINGLE CASE OF XERODERMA PIGMENTOS

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Rahul Shetty

2013-10-01

Full Text Available Xeroderma pigmentosum is a autosomal recessive genetic disorder in which cutaneous malignancies are very common. We report a rare case where four different varieties of cutaneous malignancies were seen in the same patient..

Late-Onset Psychogenic Chronic Phonic-Tics

Directory of Open Access Journals (Sweden)

Thiago C. Vale

2016-06-01

Full Text Available Background: Tics beginning in late adulthood often have an identifiable etiology. Psychogenic tics with onset around 60 years of age are rarely described in the literature. Case Report: A 67-year-old female had experienced phonic tics for 8 years. Episodes occurred without premonitory sensations and precipitant factors, and she could not suppress them. She had no history of childhood tic disorder, and secondary causes of tics were excluded. She was diagnosed with psychogenic tics and treated with quetiapine with mild improvement. Discussion: When physicians are faced with no identifiable cause of tics combined with certain clinical clues, a psychogenic disorder must be suspected. 

[Hypochondriac symptoms in late-onset depression: the relationship between hypochondria and somatic state of patients].

Science.gov (United States)

Ivanets, N N; Avdeeva, T I; Kinkul'kina, M A

2013-01-01

Authors studied 276 women with late-onset depression. Concomitant chronic somatic diseases were identified in 90%. The presence of disease and its nosological definition did not impact on the development of hypochondriac symptoms in patients with late-onset depression. Patients with hypochondriac late-onset depression more often had disability pension due to somatic disease because they more often referred to internists in case of similar objective severity of somatic pathology. It was singled out three variants of the relationship between hypochondria and somatic state: hypernosognostic (a complete coincidence of hypochondria content with actual somatic pathology; anosognostic (a lack of coincidence) and disharmonic (a partial coincidence). The themes of hypochondria in late-nset depressions were correlated with a total number of somatic diseases and their severity. At the same time, there was no correlation between the content of hypochondria and the character of somatic disease.

Atypical presentation of late-onset Tay-Sachs disease.

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Deik, Andres; Saunders-Pullman, Rachel

2014-05-01

Late-onset Tay-Sachs disease (LOTS) is a lysosomal storage disease caused by deficient Beta-hexosaminidase A activity. We describe a 53-year-old woman who presented with adult-onset leg weakness, and whose initial diagnosis was progressive muscular atrophy without identifiable etiology. Development of cerebellar ataxia in mid-life prompted reassessment. Beta-hexosaminidase A quantification assay demonstrated absence of the isozyme. Genetic testing identified compound heterozygous mutations in the HEXA gene, confirming the diagnosis of LOTS. The phenotypic spectrum of LOTS includes motor neuronopathy, ataxia, choreoathetosis, neuropathy, and psychiatric symptoms in various combinations. This patient highlights the emergence of different clinical features over many years and emphasizes the need to consider LOTS in the differential diagnosis of progressive muscular atrophy. Copyright © 2013 Wiley Periodicals, Inc.

Maternal serum copeptin concentrations in early- and late-onset pre-eclampsia

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Abdullah Tuten

2015-08-01

Conclusion: Our results suggest that copeptin levels might be useful in the evaluation of the severity of pre-eclampsia. However, copeptin might be involved in early- rather than late-onset pre-eclampsia.

Effects of melatonin and bright light treatment in childhood chronic sleep onset insomnia with late melatonin onset: A randomised controlled study

NARCIS (Netherlands)

van Maanen, A.; Meijer, A.M.; Smits, M.G.; van der Heijden, K.B.; Oort, F.J.

2017-01-01

STUDY OBJECTIVES: Chronic sleep onset insomnia with late melatonin onset is prevalent in childhood, and has negative daytime consequences. Melatonin treatment is known to be effective in treating these sleep problems. Bright light therapy might be an alternative treatment, with potential advantages

Herpes zoster-associated voiding dysfunction in hematopoietic malignancy patients.

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Imafuku, Shinichi; Takahara, Masakazu; Uenotsuchi, Takeshi; Iwato, Koji; Furue, Masutaka

2008-01-01

Voiding dysfunction is a rare but important complication of lumbo-sacral herpes zoster. Although the symptoms are transient, the clinical impact on immunocompromised patients cannot be overlooked. To clarify the time course of voiding dysfunction in herpes zoster, 13 herpes zoster patients with voiding dysfunction were retrospectively analyzed. Of 13 patients, 12 had background disease, and six of these were hematopoietic malignancies; four of these patients were hematopoietic stem cell transplant (HSCT) recipients. Ten patients had sacral lesions, two had lumbar, and one had thoracic lesions. Interestingly, patients with severe rash, or with hematopoietic malignancy had later onset of urinary retention than did patients with mild skin symptoms (Mann-Whitney U analysis, P = 0.053) or with other background disease (P = 0.0082). Patients with severe skin rash also had longer durations (P = 0.035). In one case, acute urinary retention occurred as late as 19 days after the onset of skin rash. In immune compromised subjects, attention should be paid to patients with herpes zoster in the lumbo-sacral area for late onset of acute urinary retention even after the resolution of skin symptoms.

Associations of personal and family preeclampsia history with the risk of early-, intermediate- and late-onset preeclampsia.

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Boyd, Heather A; Tahir, Hassaan; Wohlfahrt, Jan; Melbye, Mads

2013-12-01

Preeclampsia encompasses multiple conditions of varying severity. We examined the recurrence and familial aggregation of preeclampsia by timing of onset, which is a marker for severity. We ascertained personal and family histories of preeclampsia for women who delivered live singletons in Denmark in 1978-2008 (almost 1.4 million pregnancies). Using log-linear binomial regression, we estimated risk ratios for the associations between personal and family histories of preeclampsia and the risk of early-onset (before 34 weeks of gestation, which is typically the most severe), intermediate-onset (at 34-36 weeks of gestation), and late-onset (after 36 weeks of gestation) preeclampsia. Previous early-, intermediate-, or late-onset preeclampsia increased the risk of recurrent preeclampsia with the same timing of onset 25.2 times (95% confidence interval (CI): 21.8, 29.1), 19.7 times (95% CI: 17.0, 22.8), and 10.3 times (95% CI: 9.85, 10.9), respectively, compared with having no such history. Preeclampsia in a woman's family was associated with a 24%-163% increase in preeclampsia risk, with the strongest associations for early- and intermediate-onset preeclampsia in female relatives. Preeclampsia in the man's family did not affect a woman's risk of early-onset preeclampsia and was only weakly associated with her risks of intermediate- and late-onset preeclampsia. Early-onset preeclampsia appears to have the largest genetic component, whereas environmental factors likely contribute most to late-onset preeclampsia. The role of paternal genes in the etiology of preeclampsia appears to be limited.

Radiological features of late-onset lymphoedema in Noonan's syndrome

International Nuclear Information System (INIS)

Ho, Wan-Ling; Wang, Jou-Kou; Li, Yiu-Wah

2003-01-01

Noonan's syndrome is a multiple congenital anomaly syndrome with diverse manifestations. Lymphatic abnormalities occur in less than 20% of patients. We report a 14-year-old boy who presented with swollen lower limbs and dysmorphic features characteristic of Noonan's syndrome. The radiological features of this unusual case of late-onset lymphoedema in association with Noonan's syndrome are presented. (orig.)

Radiological features of late-onset lymphoedema in Noonan's syndrome.

Science.gov (United States)

Ho, Wan-Ling; Wang, Jou-Kou; Li, Yiu-Wah

2003-03-01

Noonan's syndrome is a multiple congenital anomaly syndrome with diverse manifestations. Lymphatic abnormalities occur in less than 20% of patients. We report a 14-year-old boy who presented with swollen lower limbs and dysmorphic features characteristic of Noonan's syndrome. The radiological features of this unusual case of late-onset lymphoedema in association with Noonan's syndrome are presented.

Late-onset Pompe disease: first clinical description in Russia

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S. S. Nikitin

2014-01-01

Full Text Available Late-onset Pompe-disease (LOPD is an adult form of the glycogenosis type II. The age of onset ranges from 1 till 75 y.o. and older. The diagnosis of LOPD is based on the presence of trunk and limb-girdle muscle weakness with hyperlordosis, respiratory failure, ocasionally accompanied by cardiomyopathy, persistent mild elevation of creatine kinase, dry blood spot test of the enzyme activity and DNA-analysis of GAA-gene. Early recognition of the LOPD and beginning of the enzyme replacement therapy is important in preventing severe motor and respiratory deficit, the patient disability and in increasing the survival in those patients.

The relationship between MDM2 expression and tumor thickness and invasion in primary cutaneous malignant melanoma

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Parvin Rajabi

2012-01-01

Full Text Available Background: Malignant melanoma is the most invasive cutaneous tumor which is associated with an incredibly high mortality rate. The most reliable histological factors associated with melanoma prognosis are tumor thickness- measured by the Breslow index- and invasion depth- measured by Clark level. Murine double minute 2 (MDM2 gene inhibits p53-dependent apoptosis. An increase in MDM2 expression has been found in many tumors. This study aimed to investigate MDM2 expression and its correlation with tumor thickness and invasion level in malignant melanoma. Materials and Methods: This study evaluated paraffin blocks from 43 randomly selected patients with primary cutaneous melanoma who referred to the main university pathology center in Isfahan, Iran. MDM2 expression rate was assessed via immunohistochemical techniques and hematoxylin and eosin staining to determine tumor thickness and invasion level. Correlations between MDM2 expression and tumor thickness and invasion were analyzed using Spearman′s correlation coefficient in SPSS 17 . Results: The mean age of patients was 61.2 ± 15 years. Men and women constituted 55.8% and 44.2% of the participants, respectively. The rate of MDM2 positivity was 28.9%. MDM2 expression was directly associated with tumor thickness (r = 0.425; p = 0.002 and weakly with invasion level (r = 0.343; p = 0.01. Conclusions: Despite the low MDM2 expression rate observed in this study, direct relationships between MDM2 positivity and tumor thickness and invasion level were identified. MDM2 expression can thus be suggested as a potential new predictive prognostic factor.

Differences in the Onset and Severity of Symptoms of Malignant Hyperthermia With Different Inhalational Anesthetics

National Research Council Canada - National Science Library

Solberg, Alison

1999-01-01

.... The purpose of this study was to identify if there is a significant difference in the onset and severity of signs and symptoms of malignant hyperthermia in those MH-susceptible patients who received...

Late Onset of Acute Urticaria after Bee Stings

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Yuko Asai

2016-12-01

Full Text Available Here we report the cases of five patients with a late onset of acute urticaria after a bee sting. The ages of the five Japanese patients ranged from 33 to 86 years (median: 61. All patients had no history of an allergic reaction to bee stings. The onset of urticaria was 6–14 days (median: 10 after a bee sting. Although four of the patients did not describe experiencing a bee sting at their presentation, the subsequent examination detected anti-bee-specific IgE antibodies. So, we think a history of a bee sting should thus be part of the medical interview sheet for patients with acute urticaria, and an examination of IgE for bees may help prevent a severe bee-related anaphylactic reaction in the future.

Malignant T Cells Secrete Galectins and Induce Epidermal Hyperproliferation and Disorganized Stratification in a Skin Model of Cutaneous T Cell Lymphoma

DEFF Research Database (Denmark)

Thode, Christenze; Andersen, Anders Woetmann; Wandall, Hans H

2015-01-01

Cutaneous T cell lymphomas (CTCL) are the most common primary skin lymphomas; which are characterized by an accumulation of malignant T cells in the skin. The early lesion resembles both clinically and histologically benign inflammatory disorders, which also presents with hyperproliferative epide...... in CTCL.Journal of Investigative Dermatology accepted article preview online, 09 July 2014; doi:10.1038/jid.2014.284....

The occurrence of non-melanoma malignant skin lesions and non-cutaneous squamous-cell carcinoma among metastatic melanoma patients: an observational cohort study in Denmark.

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Li, Haojie; Pedersen, Lars; Nørgaard, Mette; Ulrichsen, Sinna P; Thygesen, Sandra K; Nelson, Jeanenne J

2016-05-03

Inhibitors of mutant BRAF are emerging as standard of care in patients with metastatic melanoma who carry relevant oncogenic mutations. However, BRAF inhibitors are found to induce cutaneous squamous cell carcinoma (cuSCC). Population-based background rates of cuSCC and non-cutaneous squamous cell carcinoma (non-cuSCC) in the metastatic melanoma population may contextualize safety signals from randomized clinical trials or the clinics. However, these background rates are lacking. We conducted a historical cohort study to evaluate the background rates of new-onset non-melanoma skin lesions and non-cuSCC among 2,814 metastatic malignant melanoma patients diagnosed in 1997-2010, identified through the Danish Cancer Registry and the National Pathology Registry. Patients were excluded if they had a history of cancer before the metastatic melanoma diagnosis, other than skin cancers. We determined the incidence of non-melanoma malignant skin lesions and non-cuSCC that occurred post metastatic melanoma diagnosis, censoring patients at death, emigration, or December 31, 2011 (end of study period), whichever came first. The median age at metastatic melanoma diagnosis was 64 years. Over 40% of patients died within one year of metastatic diagnosis and ~70% died within 5 years. The percentages of patients with prior history or prevalent disease at metastatic melanoma diagnosis included: 8.6% with cuSCC or basal cell carcinoma (BCC), 3.9% with actinic keratosis (AK), and 0.7% with Bowen's disease. No patients had past or current non-cuSCC per study exclusion criterion. The incidence of non-melanoma skin lesions during the 6 months post-metastatic melanoma diagnosis was as follows: BCC, 1.8% (42.5 per 1000 person-years [PY]); AK, 0.8% (18.6 per 1000 PY); cuSCC, 0.1% (1.7 per 1000 PY); Bowen's disease, 0.04% (0.8 per 1000 PY); and keratoacanthoma (KA), 0%. Non-cuSCC was observed in 3 patients (0.1%; 2.5 per 1000 PY) at 3 sites: bronchi, heart and lung. CuSCC and non-cuSCC were

The occurrence of non-melanoma malignant skin lesions and non-cutaneous squamous-cell carcinoma among metastatic melanoma patients: an observational cohort study in Denmark

International Nuclear Information System (INIS)

Li, Haojie; Pedersen, Lars; Nørgaard, Mette; Ulrichsen, Sinna P.; Thygesen, Sandra K.; Nelson, Jeanenne J.

2016-01-01

Inhibitors of mutant BRAF are emerging as standard of care in patients with metastatic melanoma who carry relevant oncogenic mutations. However, BRAF inhibitors are found to induce cutaneous squamous cell carcinoma (cuSCC). Population-based background rates of cuSCC and non-cutaneous squamous cell carcinoma (non-cuSCC) in the metastatic melanoma population may contextualize safety signals from randomized clinical trials or the clinics. However, these background rates are lacking. We conducted a historical cohort study to evaluate the background rates of new-onset non-melanoma skin lesions and non-cuSCC among 2,814 metastatic malignant melanoma patients diagnosed in 1997–2010, identified through the Danish Cancer Registry and the National Pathology Registry. Patients were excluded if they had a history of cancer before the metastatic melanoma diagnosis, other than skin cancers. We determined the incidence of non-melanoma malignant skin lesions and non-cuSCC that occurred post metastatic melanoma diagnosis, censoring patients at death, emigration, or December 31, 2011 (end of study period), whichever came first. The median age at metastatic melanoma diagnosis was 64 years. Over 40 % of patients died within one year of metastatic diagnosis and ~70 % died within 5 years. The percentages of patients with prior history or prevalent disease at metastatic melanoma diagnosis included: 8.6 % with cuSCC or basal cell carcinoma (BCC), 3.9 % with actinic keratosis (AK), and 0.7 % with Bowen’s disease. No patients had past or current non-cuSCC per study exclusion criterion. The incidence of non-melanoma skin lesions during the 6 months post-metastatic melanoma diagnosis was as follows: BCC, 1.8 % (42.5 per 1000 person-years [PY]); AK, 0.8 % (18.6 per 1000 PY); cuSCC, 0.1 % (1.7 per 1000 PY); Bowen’s disease, 0.04 % (0.8 per 1000 PY); and keratoacanthoma (KA), 0 %. Non-cuSCC was observed in 3 patients (0.1 %; 2.5 per 1000 PY) at 3 sites: bronchi, heart and lung. CuSCC and

Late-onset Becker-type muscular dystrophy in a Border terrier dog.

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Jeandel, A; Garosi, L S; Davies, L; Guo, L T; Salgüero, R; Shelton, G D

2018-01-29

A 9-year-old Border terrier was presented to a referral hospital after a 1-year history of progressive stiffness and exercise intolerance. Neurological examination was consistent with a neuromuscular disorder. Serum creatine kinase activity was mildly elevated. A myopathy was suspected based on MRI findings and electrophysiological examination. Muscle histopathology was consistent with a severe non-inflammatory myopathy of a dystrophic type. Immunofluorescence and western blotting confirmed a dystrophinopathy with an 80-kDa truncated dystrophin fragment similar to Becker muscular dystrophy in people. To our knowledge, this is the first description of a late-onset Becker-type muscular dystrophy in a dog, and the first description of a dystrophinopathy in a Border terrier. Muscular dystrophy in dogs should not be ruled out based on late onset clinical signs and only mildly elevated creatine kinase. © 2018 British Small Animal Veterinary Association.

Late-onset social anxiety disorder following traumatic brain injury.

Science.gov (United States)

Chaves, Cristiano; Trzesniak, Clarissa; Derenusson, Guilherme Nogueira; Araújo, David; Wichert-Ana, Lauro; Machado-de-Sousa, João Paulo; Carlotti, Carlos Gilberto; Nardi, Antonio E; Zuardi, Antônio W; de S Crippa, José Alexandre; Hallak, Jaime E C

2012-01-01

Neuropsychiatric sequelae are the predominant long-term disability after traumatic brain injury (TBI). This study reports a case of late-onset social anxiety disorder (SAD) following TBI. A patient that was spontaneous and extroverted up to 18-years-old started to exhibit significant social anxiety symptoms. These symptoms became progressively worse and he sought treatment at age 21. He had a previous history of traumatic brain injury (TBI) at age 17. Neuroimaging investigations (CT, SPECT and MRI) showed a bony protuberance on the left frontal bone, with mass effect on the left frontal lobe. He had no neurological signs or symptoms. The patient underwent neurosurgery with gross total resection of the lesion and the pathological examination was compatible with intradiploic haematoma. Psychiatric symptoms may be the only findings in the initial manifestation of slowly growing extra-axial space-occupying lesions that compress the frontal lobe from the outside. Focal neurological symptoms may occur only when the lesion becomes large. This case report underscores the need for careful exclusion of general medical conditions and TBI history in cases of late-onset SAD and may also contribute to the elucidation of the neurobiology of this disorder.

A 3-Year Follow-up of Sun Behavior in Patients With Cutaneous Malignant Melanoma

DEFF Research Database (Denmark)

Idorn, Luise Winkel; Datta, Pameli; Heydenreich, Jakob

2014-01-01

IMPORTANCE UV radiation (UVR) exposure is the primary environmental risk factor for developing cutaneous malignant melanoma (CMM). OBJECTIVE To measure changes in sun behavior from the first until the third summer after the diagnosis of CMM using matched controls as a reference. DESIGN, SETTING...... that measured time-related UVR in standard erythema dose (SED) and corresponding sun diaries (mean, 74 days per participant each participation year). RESULTS Patients' daily UVR dose and UVR dose in connection with various behaviors increased during follow-up (quantified as an increase in daily UVR dose each...... suggest that patients with CMM do not maintain a cautious sun behavior in connection with an increase in UVR exposure, especially on days with body exposure, when abroad, and on holidays....

LONGITUDINAL STRUCTURAL CHANGES IN LATE-ONSET RETINAL DEGENERATION.

Science.gov (United States)

Cukras, Catherine; Flamendorf, Jason; Wong, Wai T; Ayyagari, Radha; Cunningham, Denise; Sieving, Paul A

2016-12-01

To characterize longitudinal structural changes in early stages of late-onset retinal degeneration to investigate pathogenic mechanisms. Two affected siblings, both with a S163R missense mutation in the causative gene C1QTNF5, were followed for 8+ years. Color fundus photos, fundus autofluorescence images, near-infrared reflectance fundus images, and spectral domain optical coherence tomography scans were acquired during follow-up. Both patients, aged 45 and 50 years, had good visual acuities (>20/20) in the context of prolonged dark adaptation. Baseline color fundus photography demonstrated yellow-white, punctate lesions in the temporal macula that correlated with a reticular pattern on fundus autofluorescence and near-infrared reflectance imaging. Baseline spectral domain optical coherence tomography imaging revealed subretinal deposits that resemble reticular pseudodrusen described in age-related macular degeneration. During follow-up, these affected areas developed confluent thickening of the retinal pigment epithelial layer and disruption of the ellipsoid zone of photoreceptors before progressing to overt retinal pigment epithelium and outer retinal atrophy. Structural changes in early stages of late-onset retinal degeneration, revealed by multimodal imaging, resemble those of reticular pseudodrusen observed in age-related macular degeneration and other retinal diseases. Longitudinal follow-up of these lesions helps elucidate their progression to frank atrophy and may lend insight into the pathogenic mechanisms underlying diverse retinal degenerations.

Breast metastasis from cutaneous malignant melanoma mimicking a breast cancer.

Science.gov (United States)

Maniglio, Marina; Capalbo, Emanuela; Viganò, Sara; Trecate, Giovanna; Scaperrotta, Gianfranco Paride; Panizza, Pietro

2015-06-25

Breast metastases are very uncommon, either from solid tumors or malignant melanoma. We present the case of a 42-year-old woman with a history of cutaneous melanoma of the shoulder excised 21 years ago. She presented with a palpable lump in the upper outer quadrant of the right breast. Ultrasound demonstrated a solid mass within a cystic lesion. A core biopsy was taken and first histology reported a poorly differentiated primary breast cancer suspected to be triple negative. MRI detected a satellite lesion in the same breast, a focus of suspected enhancement in the other breast, and the extramammary finding of an enhancing pulmonary lesion. Staging computed tomography detected widespread metastases to the lungs, brain, subcutaneous left shoulder, liver, pancreas, and hepatorenal recess. A core biopsy was taken from the left breast lesion and the previous slides were reviewed; histopathology and immunohistochemistry were in keeping with metastasis from melanoma. The possibility of a metastatic lesion to the breast should be taken into account in any patient presenting with a breast lump and a previous history of melanoma. Breast involvement cannot be considered an isolated finding, as it might be the first manifestation of widespread disease.

Diabetes Mellitus-Associated Functional Hypercortisolism Impairs Sexual Function in Male Late-Onset Hypogonadism.

Science.gov (United States)

Tirabassi, G; Corona, G; Lamonica, G R; Lenzi, A; Maggi, M; Balercia, G

2016-01-01

Functional hypercortisolism is generated by conditions able to chronically activate hypothalamic-pituitary-adrenal axis and has been proven to have a negative role in several complications. However, no study has evaluated the possible influence of diabetes mellitus-associated functional hypercortisolism on male hypogonadism and sexual function. We aimed to identify any association of hypothalamic-pituitary-adrenal axis dysregulation measures with testosterone and sexual function in men simultaneously affected by diabetes mellitus and late-onset hypogonadism. Fifteen diabetes mellitus and late-onset hypogonadism subjects suffering from functional hypercortisolism and fifteen diabetes mellitus and late-onset hypogonadism subjects who were free of functional hypercortisolism were retrospectively reviewed. Clinical, hormonal, and sexual parameters were considered. Hypercortisolemic subjects showed higher values of body mass index, waist, and glycated hemoglobin and lower ones of testosterone compared to normocortisolemic ones. All sexual parameters, except for orgasmic function, were significantly worse in hypercortisolemic than in normocortisolemic subjects. Hypercortisolemic patients showed higher values of cortisol after dexamethasone and urinary free cortisol as well as a lesser ACTH response after corticotropin releasing hormone test (ACTH area under curve) compared to normocortisolemic ones. No significant association was found at Poisson regression analysis between hormonal and sexual variables in normocortisolemic patients. In hypercortisolemic subjects, negative and significant associations of cortisol response after corticotropin releasing hormone (cortisol area under curve) with erectile function (β: -0.0008; p: 0.015) and total international index of erectile function score (β: -0.0006; p: 0.001) were evident. This study suggests for the first time the impairing influence of the dysregulated hypothalamic-pituitary-adrenal axis on sexual function in

Late cutaneous metastases to the face from malignant pleural mesothelioma: A case report and review of the literature

Directory of Open Access Journals (Sweden)

Lawrence Julia

2009-11-01

Full Text Available Abstract Background Malignant Mesothelioma is a rare primary neoplasm affecting the serosal membranes. During its relative short course, this malignant neoplasm can give local and, rarely, distant haematogenous metastases in different organs. The reported metastatic sites include liver, lung, heart, brain, thyroid, adrenals, kidneys, pancreas, bone, soft tissue, skin and lymph nodes. Case Presentation We report a sixty one year-old man with a history of malignant pleural epithelioid mesothelioma treated with six cycles of Pemetrexed and Carboplatin completed 03/11/04 followed by radiotherapy to the drain site 250 Kv/TD20Gy/5F completed 13/12/2004. Then he developed multiple facial skin lesions 4 years later. These lesions were proved to be metastatic malignant sarcomatoid mesothelioma. Conclusion Mesothelioma metastases should be suspected in any known Mesothelioma patient with newly developed skin lesion.

White Matter Lesions, Carotid and Coronary Atherosclerosis in Late-Onset Depression and Healthy Controls

DEFF Research Database (Denmark)

Devantier, Torben Albert; Nørgaard, Bjarne Linde; Poulsen, Mikael Kjær

2016-01-01

BACKGROUND: Cerebral white matter lesions (WMLs) are more common in individuals with late-onset or late-life depression. It has been proposed that carotid atherosclerosis may predispose to WMLs by inducing cerebral hypoperfusion. This hemodynamic effect of carotid atherosclerosis could be importa...

Cutaneous malignant melanoma show geographic and socioeconomic disparities in stage at diagnosis and excess mortality

DEFF Research Database (Denmark)

Strömberg, Ulf; Peterson, Stefan; Holmberg, Erik

2016-01-01

Background Preventive measures are needed to counteract the increasing burden of cutaneous malignant melanoma (CMM). As a basis for rational melanoma prevention, we investigated geographic differences and impact from socioeconomic factors related to incidence, clinical stage at diagnosis...... and the national Melanoma Quality Register. Geographic and socioeconomic differences in incidence per stage at diagnosis were mapped and correlated to excess mortality. Results Disease mapping based on 9743 cases in 99 municipalities and 20 metropolitan districts showed marked, regional disparities in stage.......37-2.40). Conclusion Residential region and educational level influenced CMM stage and, thereby, excess mortality. These observations suggest that geographic as well as socioeconomic data should be considered in prevention of CMM....

Malignant T cells exhibit CD45 resistant Stat 3 activation and proliferation in cutaneous T cell lymphoma

DEFF Research Database (Denmark)

Krejsgaard, T; Helvad, Rikke; Ralfkiær, Elisabeth

2010-01-01

CD45 is a protein tyrosine phosphatase, which is well-known for regulating antigen receptor signalling in T and B cells via its effect on Src kinases. It has recently been shown that CD45 can also dephosphorylate Janus kinases (Jaks) and thereby regulate Signal transducer and activator of transcr......CD45 is a protein tyrosine phosphatase, which is well-known for regulating antigen receptor signalling in T and B cells via its effect on Src kinases. It has recently been shown that CD45 can also dephosphorylate Janus kinases (Jaks) and thereby regulate Signal transducer and activator...... of transcription (Stat) activation and cytokine-induced proliferation in lymphocytes. Consequently, CD45 dysregulation could be implicated in aberrant Jak/Stat activation and proliferation in lymphoproliferative diseases. Despite high expression of the CD45 ligand, Galectin-1, in skin lesions from cutaneous T......-cell lymphoma (CTCL), the malignant T cells exhibit constitutive activation of the Jak3/Stat3 signalling pathway and uncontrolled proliferation. We show that CD45 expression is down-regulated on malignant T cells when compared to non-malignant T cells established from CTCL skin lesions. Moreover, CD45 cross...

Incidence, risk factors, and mortality of neonatal and late-onset dilated cardiomyopathy associated with cardiac neonatal lupus.

Science.gov (United States)

Morel, Nathalie; Lévesque, Kateri; Maltret, Alice; Baron, Gabriel; Hamidou, Mohamed; Orquevaux, Pauline; Piette, Jean-Charles; Barriere, François; Le Bidois, Jérôme; Fermont, Laurent; Fain, Olivier; Theulin, Arnaud; Sassolas, François; Hauet, Quentin; Guettrot-Imbert, Gaëlle; Georgin-Lavialle, Sophie; Deligny, Christophe; Hachulla, Eric; Mouthon, Luc; Le Jeunne, Claire; Ravaud, Philippe; Le Mercier, Delphine; Romefort, Bénédicte; Villain, Elisabeth; Bonnet, Damien; Costedoat-Chalumeau, Nathalie

2017-12-01

Dilated cardiomyopathy (DCM), a well-known complication of cardiac neonatal lupus, is associated with high mortality rate. Its risk factors remain unclear. We analyzed occurrence of postnatal DCM among children with high-degree congenital heart block (CHB) and mothers with anti-SSA and/or anti-SSB antibodies. Among 187 neonates with CHB, 35 (18.8%, one missing data) had DCM and 22 (11.8%) died during a median follow-up of 7years [range: birth-36years]. On multivariate analysis, factors associated with postnatal DCM were in utero DCM (P=0.0199; HR=3.13 [95% CI: 1.20-8.16]), non-European origin (P=0.0052; HR=4.10 [95% CI: 1.81-9.28]) and pacemaker implantation (P=0.0013; HR=5.48 [95% CI: 1.94-15.47]). Postnatal DCM could be categorized in two subgroups: neonatal DCM (n=13, diagnosed at a median age of 0day [birth-4days]) and late-onset DCM (n=22, diagnosed at a median age of 15.2months [3.6months-22.8years]). Factors associated with neonatal DCM were in utero DCM, hydrops, endocardial fibroelastosis and pericardial effusion, whereas those associated with late-onset DCM were non-European origin, in utero mitral valve insufficiency, and pacemaker implantation. Fluorinated steroids showed no protective effect against late-onset DCM (P=0.27; HR=1.65 [95% CI: 0.63-4.25]). Probability of survival at 10years was 23.1% for newborns diagnosed neonatally with DCM, 53.9% for those who developed late-onset DCM, and 98.6% for those without DCM. Neonatal and late-onset DCM appear to be two different entities. None of the known risk factors associated with neonatal DCM predicted late-onset DCM. Long-term follow-up of cardiac function is warranted in all children with CHB. Copyright © 2017 Elsevier B.V. All rights reserved.

Oromandibular Dyskinesia as the Initial Manifestation of Late-Onset Huntington Disease

Directory of Open Access Journals (Sweden)

Dong-Seok Oh

2011-10-01

Full Text Available Huntington’s disease (HD is a neurodegenerative disorder characterized by a triad of choreoathetosis, dementia and dominant inheritance. The cause of HD is an expansion of CAG trinucleotide repeats in the HD gene. Typical age at onset of symptoms is in the 40s, but the disorder can manifest at any time. Late-onset (≥ 60 years HD is clinically different from other adult or juvenile onset HD and characterized by mild motor problem as the initial symptoms, shorter disease duration, frequent lack of family history, and relatively low CAG repeats expansion. We report a case of an 80-year-old female with oromandibular dyskinesia as an initial manifestation of HD and 40 CAG repeats.

Cutaneous leiomyosarcoma arising in a smallpox scar.

Science.gov (United States)

Pol, Robert A; Dannenberg, Hilde; Robertus, Jan-Lukas; van Ginkel, Robert J

2012-07-16

Cutaneous leiomyosarcoma (CLM) is a very rare smooth muscle tumour that accounts for about 2-3% of all superficial soft tissue sarcomas. Although the development of various malignancies in scar tissue is well known, we report the first case of a CLM developing in a small pox scar. A 66-year-old man presented with a painless, slow-growing lump in a small pox scar on his left shoulder. Histological biopsies showed the lesion to be a primary, well-differentiated cutaneous leiomyosarcoma. A CT scan of the thorax was conducted, which showed no signs of metastases. The complete lesion was then surgically excised, and histopathological examination revealed a radically excised cutaneous type leiomyosarcoma After 13 months' review the patient was doing well with no evidence of tumour recurrence. This is the first report of a CLM arising in a small pox scar. Although the extended time interval between scarring and malignant changes makes it difficult to advise strict follow-up for patients with small pox scars, one should be aware that atypical changes and/or symptoms occurring in a small pox scar could potentially mean malignant transformation.

Cutaneous leiomyosarcoma arising in a smallpox scar

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Pol Robert A

2012-07-01

Full Text Available Abstract Background Cutaneous leiomyosarcoma (CLM is a very rare smooth muscle tumour that accounts for about 2–3% of all superficial soft tissue sarcomas. Although the development of various malignancies in scar tissue is well known, we report the first case of a CLM developing in a small pox scar. Case presentation A 66-year-old man presented with a painless, slow-growing lump in a small pox scar on his left shoulder. Histological biopsies showed the lesion to be a primary, well-differentiated cutaneous leiomyosarcoma. A CT scan of the thorax was conducted, which showed no signs of metastases. The complete lesion was then surgically excised, and histopathological examination revealed a radically excised cutaneous type leiomyosarcoma After 13 months’ review the patient was doing well with no evidence of tumour recurrence. Conclusions This is the first report of a CLM arising in a small pox scar. Although the extended time interval between scarring and malignant changes makes it difficult to advise strict follow-up for patients with small pox scars, one should be aware that atypical changes and/or symptoms occurring in a small pox scar could potentially mean malignant transformation.

Early functional and morphological brain disturbances in late-onset intrauterine growth restriction.

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Starčević, Mirta; Predojević, Maja; Butorac, Dražan; Tumbri, Jasna; Konjevoda, Paško; Kadić, Aida Salihagić

2016-02-01

To determine whether the brain disturbances develop in late-onset intrauterine growth restriction (IUGR) before blood flow redistribution towards the fetal brain (detected by Doppler measurements in the middle cerebral artery and umbilical artery). Further, to evaluate predictive values of Doppler arterial indices and umbilical cord blood gases and pH for early functional and/or morphological brain disturbances in late-onset IUGR. This cohort study included 60 singleton term pregnancies with placental insufficiency caused late-onset IUGR (IUGR occurring after 34 gestational weeks). Umbilical artery resistance index (URI), middle cerebral artery resistance index (CRI), and cerebroumbilical (C/U) ratio (CRI/URI) were monitored once weekly. Umbilical blood cord samples (arterial and venous) were collected for the analysis of pO2, pCO2 and pH. Morphological neurological outcome was evaluated by cranial ultrasound (cUS), whereas functional neurological outcome by Amiel-Tison Neurological Assessment at Term (ATNAT). 50 fetuses had C/U ratio>1, and 10 had C/U ratio≤1; among these 10 fetuses, 9 had abnormal neonatal cUS findings and all 10 had non-optimal ATNAT. However, the total number of abnormal neurological findings was much higher. 32 neonates had abnormal cUS (53.37%), and 42 (70.00%) had non-optimal ATNAT. Furthermore, Doppler indices had higher predictive validity for early brain disturbances than umbilical cord blood gases and pH. C/U ratio had the highest predictive validity with threshold for adverse neurological outcome at value 1.13 (ROC analysis), i.e., 1.18 (party machine learning algorithm). Adverse neurological outcome at average values of C/U ratios>1 confirmed that early functional and/or structural brain disturbances in late-onset IUGR develop even before activation of fetal cardiovascular compensatory mechanisms, i.e., before Doppler signs of blood flow redistribution between the fetal brain and the placenta. Copyright © 2015 Elsevier Ireland Ltd

Brainstem dysfunction in patients with late-onset Lennox-Gastaut syndrome: Voxel-based morphometry and tract-based spatial statistics study

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Kang Min Park

2016-01-01

Full Text Available Background: There have been a few reports of patients who developed Lennox-Gastaut syndrome (LGS in the second decades of their life. Objectives: The aim of this study was to investigate electroclinical presentation in patients with late-onset LGS. In addition, we evaluated structural abnormalities of the brain, which may give some clue about the common pathogenic pathway in LGS. Materials and Methods: We enrolled the patients with late-onset LGS. We collected electroclinical characteristics of the patients and evaluated structural abnormalities using voxel-based morphometry (VBM and tract-based spatial statistics (TBSS analysis. Results: The three subjects were diagnosed with late-onset LGS. The patients have no mental retardation and normal background activities on electroencephalography (EEG, and they had generalized paroxysmal fast activities on EEG, especially during sleep. The TBSS analysis revealed that fractional anisotropy values in the patients were significantly reduced in the white matter of brainstem compared with normal controls. However, VBM analysis did not show any significant difference between the patients and normal controls. Conclusions: Patients with late-onset LGS have different clinical and EEG characteristics from those with early-onset LGS. In addition, we demonstrated that brainstem dysfunction might contribute to the pathogenesis of late-onset LGS.

Maternal left ventricular hypertrophy and diastolic dysfunction and brain natriuretic peptide concentration in early- and late-onset pre-eclampsia.

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Borges, V T M; Zanati, S G; Peraçoli, M T S; Poiati, J R; Romão-Veiga, M; Peraçoli, J C; Thilaganathan, B

2018-04-01

Pre-eclampsia (PE) is associated with maternal cardiac remodeling and diastolic dysfunction. The aim of this study was to assess and compare maternal left ventricular structure and diastolic function and levels of brain natriuretic peptide (BNP) in women with early-onset (< 34 weeks' gestation) vs those with late-onset (≥ 34 weeks' gestation) PE. This was a prospective, cross-sectional, observational study of 30 women with early-onset PE, 32 with late-onset PE and 23 normotensive controls. Maternal cardiac structure and diastolic function were assessed by echocardiography and plasma levels of BNP were measured by enzyme immunoassay. Early- and late-onset PE were associated with increased left ventricular mass index and relative wall thickness compared with normotensive controls. In women with early-onset PE, the prevalence of concentric hypertrophy (40%) and diastolic dysfunction (23%) was also significantly higher (both P < 0.05) compared with women with late-onset PE (16% for both). Maternal serum BNP levels were significantly higher (P < 0.05) in women with early-onset PE and correlated with relative wall thickness and left ventricular mass index. Early-onset PE is associated with more severe cardiac impairment than is late-onset PE, as evidenced by an increased prevalence of concentric hypertrophy, diastolic dysfunction and higher levels of BNP. These findings suggest that early-onset PE causes greater myocardial damage, increasing the risk of both peripartum and postpartum cardiovascular morbidity. Although these cardiovascular effects are easily identified by echocardiographic parameters and measuring BNP, further studies are needed to assess their clinical utility. Copyright © 2017 ISUOG. Published by John Wiley & Sons Ltd. Copyright © 2017 ISUOG. Published by John Wiley & Sons Ltd.

Late onset rheumatoid arthritis an observational study.

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Rexhepi, Sylejman; Rexhepi, Mjellma; Sahatçiu-Meka, Vjollca; Rexhepi, Blerta; Bahtiri, Elton; Mahmutaj, Vigan

Rheumatoid arthritis (RA) may have an onset at older age. The onset of the disease at the age of 60 and over is called late-onset rheumatoid arthritis (LORA). The aim of this study was to analyze the clinical, laboratory, radiological, and treatment characteristics of patients with LORA compared to those with early-onset RA (EaORA), provided that all the patients had an approximately equal duration of the disease. This is an observational single-center study, which involved 120 patients with an established diagnosis of RA, of which 60 patients had LORA, and 60 patients EaORA. The disease activity, measured by the Disease Activity Score 28 (DAS28-ESR), was significantly higher in the LORA group compared to the EaORA group (p0.05), while the number of patients positive for anti-citrullinated protein antibody (ACPA) was signifi cantly greater in the EaORA group (p<0.05). The values of C-reactive protein (CRP) and erythrocyte sedimentation rate (ESR) were significantly higher in the LORA than in the EaORA group. Hemoglobin levels were lower in the LORA group (11.96±1.64 g/dL) than in the EaORA group (12.18±1.56 g/dL). The most used disease-modifying antirheumatic drugs (DMARDs) were methotrexate and sulfasalazine, while biological drugs were not used. In conclusion, based on the results of our study, LORA has some features that distinguish it from EaORA, such as higher disease activity, more frequent involvement of large joints, and more pronounced structural damage. This should be taken in account in clinical practice, especially regarding treatment choices.

Eye and hair colour, skin type and constitutive skin pigmentation as risk factors for basal cell carcinoma and cutaneous malignant melanoma. A Danish case-control study

DEFF Research Database (Denmark)

Lock-Andersen, J; Drzewiecki, K T; Wulf, H C

1999-01-01

To assess the importance of hair and eye colour, skin type and constitutive skin pigmentation as risk factors for basal cell carcinoma and cutaneous malignant melanoma in fair-skinned Caucasians, we conducted two identical case-control studies in Denmark. We studied 145 cases with basal cell...... the present hair colour and eye colour, and the constitutive skin pigmentation was measured objectively by skin reflectance of UV unexposed buttock skin. There were no differences between basal cell carcinoma cases and controls in hair colour or eye colour or constitutive skin pigmentation, but more cases...... were of skin type II than skin type IV; skin type 11 was a risk factor for basal cell carcinoma with an odds ratio (OR) of 2.3. For cutaneous malignant melanoma, more cases than controls were red-haired or blond and of skin type II, but there was no difference in constitutive skin pigmentation. Hair...

Differences in diagnostic subtypes among patients with late and early onset of a single depressive episode

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Kessing, Lars Vedel

2006-01-01

OBJECTIVE: It is unclear whether patients with late onset and patients with early onset present with different subtypes of depression. The aim of the study was to compare the prevalence of subtypes of ICD-10 single depressive episodes for patients with late onset (age >65 years) and patient...... with early onset (age single depressive episode in a period from 1994-2002 at the end of the first outpatient treatment or at the first discharge from...... psychiatric hospitalisation ever in Denmark were identified in a nationwide register. RESULTS: In total, 18.192 patients were given a diagnosis of a single depressive episode at the first outpatient contact and 8.396 patients were given a diagnosis of a single depressive episode at the first psychiatric...

Dysphagia lusoria: a late onset presentation.

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Bennett, Alice Louise; Cock, Charles; Heddle, Richard; Morcom, Russell Kym

2013-04-21

Dysphagia lusoria is a term used to describe dysphagia secondary to vascular compression of the oesophagus. The various embryologic anomalies of the arterial brachial arch system often remain unrecognised and asymptomatic, but in 30%-40% of cases can result in tracheo-oesophageal symptoms, which in the majority of cases manifest as dysphagia. Diagnosis of dysphagia lusoria is via barium swallow and chest Computed tomography scan. Manometric abnormalities are variable, but age-related manometric changes may contribute to clinically relevant dysphagia lusoria in patients who present later in life. Our report describes a case of late-onset dysphagia secondary to a right aortic arch with an aberrant left subclavian artery, which represents a rare variant of dysphagia lusoria. The patient had proven additional oesophageal dysmotility with solid bolus only and a clinical response to dietary modification.

Early vs late age at onset frontotemporal dementia and frontotemporal lobar degeneration.

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Seo, Sang Won; Thibodeau, Marie-Pierre; Perry, David C; Hua, Alice; Sidhu, Manu; Sible, Isabel; Vargas, Jose Norberto S; Gaus, Stephanie E; Rabinovici, Gil D; Rankin, Katherine D; Boxer, Adam L; Kramer, Joel H; Rosen, Howard J; Gorno-Tempini, Maria Luisa; Grinberg, Lea T; Huang, Eric J; DeArmond, Stephen J; Trojanowski, John Q; Miller, Bruce L; Seeley, William W

2018-03-20

To examine clinicopathologic correlations in early vs late age at onset frontotemporal dementia (FTD) and frontotemporal lobar degeneration (FTLD). All patients were clinically evaluated and prospectively diagnosed at the UCSF Memory and Aging Center. Two consecutive series were included: (1) patients with a clinically diagnosed FTD syndrome who underwent autopsy (cohort 1) and (2) patients with a primary pathologic diagnosis of FTLD, regardless of the clinical syndrome (cohort 2). These series were divided by age at symptom onset (cutoff 65 years). In cohort 1, 48 (25.3%) were 65 years or older at symptom onset. Pathologic causes of behavioral variant FTD (bvFTD) were similar in the early age at onset (EO) and late age at onset (LO) bvFTD groups. In corticobasal syndrome (CBS), however, the most common pathologic substrate differed according to age at onset: progressive supranuclear palsy (42.9%) in LO-CBS and Alzheimer disease (AD; 40.7%) in EO-CBS. In cohort 2, 57 (28.4%) were classified as LO-FTLD. Regarding FTLD major molecular classes, FTLD with transactive response DNA-binding protein of 43 kDa was most common in EO-FTLD (44.4%), whereas FTLD-tau (58.3%) was most common in LO-FTLD. Antemortem diagnosis of a non-FTD syndrome, usually AD-type dementia, was more frequent in LO-FTLD than EO-FTLD (19.3% vs 7.7%, p = 0.017). LO-FTLD was also associated with more prevalent comorbid pathologic changes. Of these, moderate to severe AD neuropathologic change and argyrophilic grain disease were overrepresented among patients who received an antemortem diagnosis of AD-type dementia. Patients with FTD and FTLD often develop symptoms after age 65, and age at onset represents an important consideration when making antemortem neuropathologic predictions. © 2018 American Academy of Neurology.

Neuro-ophthalmology of late-onset Tay-Sachs disease (LOTS).

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Rucker, J C; Shapiro, B E; Han, Y H; Kumar, A N; Garbutt, S; Keller, E L; Leigh, R J

2004-11-23

Late-onset Tay-Sachs disease (LOTS) is an adult-onset, autosomal recessive, progressive variant of GM2 gangliosidosis, characterized by involvement of the cerebellum and anterior horn cells. To determine the range of visual and ocular motor abnormalities in LOTS, as a prelude to evaluating the effectiveness of novel therapies. Fourteen patients with biochemically confirmed LOTS (8 men; age range 24 to 53 years; disease duration 5 to 30 years) and 10 age-matched control subjects were studied. Snellen visual acuity, contrast sensitivity, color vision, stereopsis, and visual fields were measured, and optic fundi were photographed. Horizontal and vertical eye movements (search coil) were recorded, and saccades, pursuit, vestibulo-ocular reflex (VOR), vergence, and optokinetic (OK) responses were measured. All patients showed normal visual functions and optic fundi. The main eye movement abnormality concerned saccades, which were "multistep," consisting of a series of small saccades and larger movements that showed transient decelerations. Larger saccades ended earlier and more abruptly (greater peak deceleration) in LOTS patients than in control subjects; these changes can be attributed to premature termination of the saccadic pulse. Smooth-pursuit and slow-phase OK gains were reduced, but VOR, vergence, and gaze holding were normal. Patients with late-onset Tay-Sachs disease (LOTS) show characteristic abnormalities of saccades but normal afferent visual systems. Hypometria, transient decelerations, and premature termination of saccades suggest disruption of a "latch circuit" that normally inhibits pontine omnipause neurons, permitting burst neurons to discharge until the eye movement is completed. These measurable abnormalities of saccades provide a means to evaluate the effects of novel treatments for LOTS.

Effects of Melatonin and Bright Light Treatment in Childhood Chronic Sleep Onset Insomnia With Late Melatonin Onset: A Randomized Controlled Study.

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van Maanen, Annette; Meijer, Anne Marie; Smits, Marcel G; van der Heijden, Kristiaan B; Oort, Frans J

2017-02-01

Chronic sleep onset insomnia with late melatonin onset is prevalent in childhood, and has negative daytime consequences. Melatonin treatment is known to be effective in treating these sleep problems. Bright light therapy might be an alternative treatment, with potential advantages over melatonin treatment. In this study, we compare the effects of melatonin and bright light treatment with a placebo condition in children with chronic sleep onset insomnia and late melatonin onset. Eighty-four children (mean age 10.0 years, 61% boys) first entered a baseline week, after which they received melatonin (N = 26), light (N = 30), or placebo pills (N = 28) for 3 to 4 weeks. Sleep was measured daily with sleep diaries and actigraphy. Before and after treatment children completed a questionnaire on chronic sleep reduction, and Dim Light Melatonin Onset (DLMO) was measured. Results were analyzed with linear mixed model analyses. Melatonin treatment and light therapy decreased sleep latency (sleep diary) and advanced sleep onset (sleep diary and actigraphy), although for sleep onset the effects of melatonin were stronger. In addition, melatonin treatment advanced DLMO and had positive effects on sleep latency and sleep efficiency (actigraphy data), and sleep time (sleep diary and actigraphy data). However, wake after sleep onset (actigraphy) increased with melatonin treatment. No effects on chronic sleep reduction were found. We found positive effects of both melatonin and light treatment on various sleep outcomes, but more and stronger effects were found for melatonin treatment. © Sleep Research Society 2017. Published by Oxford University Press on behalf of the Sleep Research Society. All rights reserved. For permissions, please e-mail journals.permissions@oup.com.

Comparison of Single-Photon Emission Computed Tomography-Computed Tomography (SPECT/CT) and Conventional Planar Lymphoscintigraphy for Sentinel Node Localization in Patients with Cutaneous Malignancies.

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Doepker, Matthew P; Yamamoto, Maki; Applebaum, Matthew A; Patel, Nupur U; Jaime Montilla-Soler, M; Sarnaik, Amod A; Wayne Cruse, C; Sondak, Vernon K; Zager, Jonathan S

2017-02-01

Accurate preoperative lymphoscintigraphy is vital to performing sentinel lymph node biopsy (SLNB) for cutaneous malignancies. Potential advantages of single-photon emission computed tomography with integrated computed tomography (SPECT/CT) include the ability to readily identify aberrant drainage patterns as well as provide the surgeon with three-dimensional anatomic landmarks not seen on conventional planar lymphoscintigraphy (PLS). Patients with cutaneous malignancies who underwent SLNB with preoperative imaging using both SPECT/CT and PLS from 2011 to 2014 were identified. Both SPECT/CT and PLS were obtained in 351 patients (median age, 69 years; range, 5-94 years) with cutaneous malignancies (melanoma = 300, Merkel cell carcinoma = 33, squamous cell carcinoma = 8, other = 10) after intradermal injection of 99m technetium sulfur colloid (median dose 300 µCi). A mean of 4.3 hot spots were identified on SPECT/CT compared to 3.0 on PLS (p CT and PLS, while 172 (49 %) had additional hot spots identified on SPECT/CT compared to only 24 (6.8 %) additional on PLS. SPECT/CT demonstrated additional nodal basins in 103 patients (29.4 %), compared to only 11 patients (3.1 %) with additional basins on PLS. SPECT/CT is a useful adjunct that can help with sentinel node localization in challenging cases. It identified additional hot spots not seen on PLS in almost 50 % of patients. Because PLS identified hot spots not seen on SPECT/CT in 6.8 % of patients, we recommend using both modalities jointly. Long-term follow-up will be required to validate the clinical significance of the additional hot spots identified by SPECT/CT.

Late-onset Stargardt-like macular dystrophy maps to chromosome 1p13

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Kaplan, J.; Gerber, S.; Rozet, J.M. [Hopital des Enfants Malades, Paris (France)] [and others

1994-09-01

Stargardt`s disease (MIM 248200), originally described in 1909, is an autosomal recessive condition of childhood, characterized by a sudden and bilateral loss of central vision. Typically, it has an early onset (7 to 12 years), a rapidly progressive course and a poor final outcome. The central area of the retina (macula) displays pigmentary changes in a ring form with depigmentation and atrophy of the retinal pigmentary epithelium (RPE). Perimacular yellowish spots, termed fundus flavimaculatus, are observed in a high percentage of patients. We have recently reported the genetic mapping of Stargardt`s disease to chromosome 1p13. On the other hand, considering that fundus flavimaculatus (MIM 230100) is another form of fleck fundus disease, with a Stargardt-like retinal aspect but with a late-onset and a more progressive course, we decided to test the hypothesis of allelism between typical Stargardt`s disease and late-onset autosomal recessive fundus flavimaculatus. Significant pairwise lod scores were obtained in each of four multiplex families (11 affected individuals, 12 relatives) with four markers of the 1p13 region (Z = 4.79, 4.64, 3.07, 3.16 at loci D1S435, D1S424, D1S236, and D1S415, respectively at {theta} = 0). Multipoint analysis showed that the best estimate for location of the disease gene is between D1S424 and D1S236 (maximum lod score of 5.20) as also observed in Stargardt`s disease. Our results are consistent with the location of the gene responsible of the late-onset Stargardt-like macular dystrophy in the 1p13 region and raise the hypothesis of either allelic mutational events or contiguous genes in this chromosomal region. The question of possible relationship with some age-related macular dystrophies in now open to debate.

Late Onset Postpartum Eclampsia: It is Really Never Too Late—A Case of Eclampsia 8 Weeks after Delivery

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Jens Minnerup

2010-01-01

Full Text Available Introduction. Eclampsia is the combination of preeclampsia and seizures. Approximately one-half of all cases of eclampsia occur postpartum. Thereby late onset postpartum eclampsia is defined by its onset more than 48 hours after delivery. Summary of Case. We report a postpartum eclampsia occurring 8 weeks after delivery, which is the latest onset ever described. The course was complicated by an intracerebral hemorrhage (ICH. Conclusion. A late onset postpartum eclampsia even several weeks after delivery should be considered as possible diagnosis, since early treatment initiation with magnesium sulphate and antihypertensive medication prevents severe complications and reduces mortality.

Eye and hair colour, skin type and constitutive skin pigmentation as risk factors for basal cell carcinoma and cutaneous malignant melanoma. A Danish case-control study

DEFF Research Database (Denmark)

Lock-Andersen, J; Drzewiecki, K T; Wulf, H C

1999-01-01

To assess the importance of hair and eye colour, skin type and constitutive skin pigmentation as risk factors for basal cell carcinoma and cutaneous malignant melanoma in fair-skinned Caucasians, we conducted two identical case-control studies in Denmark. We studied 145 cases with basal cell...

Cutaneous Cancers in Nigerian Albinos: A Review of 22 Cases

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Oluwafemi Olasupo Awe

2018-01-01

Full Text Available Context: Albinism is an inherited disorder of hypopigmentation involving the skin, eyes, and hair. This disorder results in the absence or reduction in melanin production. There are two main types of albinism which are ocular albinism and oculocutaneous albinism. It could also be classified as syndromic or nonsyndromic the melanin, which protects from the harmful effect of ultraviolet radiation of the sun on the normal skin, is deficient in the albino, predisposing them more, to cutaneous malignancies. Aim: This study is to highlight the epidemiology of cutaneous cancers in albinos in sub-urban Nigeria. Methodology: This is a retrospective review of all albinos with histological diagnoses of cutaneous malignancies that presented to Irrua Specialist Teaching Hospital, Irrua Edo State, Nigeria between September 2010 and August 2016. The following details were extracted from the patients' case-notes, operation register, and the histopathology register. These data include age, gender, site of the lesion, the diagnosis, no of lesions excised, and duration of the lesion (s. These were collated and analyzed using SPSS version 22. Results: There were 22 albinos with histopathologically diagnosed cutaneous malignancies. There were 11 males and 11 females with male:female of 1. The age range is from 25 to 55 years with the mean of 34.68. Conclusion: Albinism is one of the most common causes of cutaneous malignancies, and majority of them present with locally advanced lesions that will need excision biopsy resulting in disfigurement. This problem can be prevented in many cases with proper community education, support, and free health care. There is also need for them to present early whenever they noticed any skin changes.

Selective androgen receptor modulators for the treatment of late onset male hypogonadism.

Science.gov (United States)

Coss, Christopher C; Jones, Amanda; Hancock, Michael L; Steiner, Mitchell S; Dalton, James T

2014-01-01

Several testosterone preparations are used in the treatment of hypogonadism in the ageing male. These therapies differ in their convenience, flexibility, regional availability and expense but share their pharmacokinetic basis of approval and dearth of long-term safety data. The brevity and relatively reduced cost of pharmacokinetic based registration trials provides little commercial incentive to develop improved novel therapies for the treatment of late onset male hypogonadism. Selective androgen receptor modulators (SARMs) have been shown to provide anabolic benefit in the absence of androgenic effects on prostate, hair and skin. Current clinical development for SARMs is focused on acute muscle wasting conditions with defi ned clinical endpoints of physical function and lean body mass. Similar regulatory clarity concerning clinical deficits in men with hypogonadism is required before the beneficial pharmacology and desirable pharmacokinetics of SARMs can be employed in the treatment of late onset male hypogonadism.

Selective androgen receptor modulators for the treatment of late onset male hypogonadism

Directory of Open Access Journals (Sweden)

Christopher C Coss

2014-04-01

Full Text Available Several testosterone preparations are used in the treatment of hypogonadism in the ageing male. These therapies differ in their convenience, flexibility, regional availability and expense but share their pharmacokinetic basis of approval and dearth of long-term safety data. The brevity and relatively reduced cost of pharmacokinetic based registration trials provides little commercial incentive to develop improved novel therapies for the treatment of late onset male hypogonadism. Selective androgen receptor modulators (SARMs have been shown to provide anabolic benefit in the absence of androgenic effects on prostate, hair and skin. Current clinical development for SARMs is focused on acute muscle wasting conditions with defi ned clinical endpoints of physical function and lean body mass. Similar regulatory clarity concerning clinical deficits in men with hypogonadism is required before the beneficial pharmacology and desirable pharmacokinetics of SARMs can be employed in the treatment of late onset male hypogonadism.

Selective androgen receptor modulators for the treatment of late onset male hypogonadism

Science.gov (United States)

Coss, Christopher C; Jones, Amanda; Hancock, Michael L; Steiner, Mitchell S; Dalton, James T

2014-01-01

Several testosterone preparations are used in the treatment of hypogonadism in the ageing male. These therapies differ in their convenience, flexibility, regional availability and expense but share their pharmacokinetic basis of approval and dearth of long-term safety data. The brevity and relatively reduced cost of pharmacokinetic based registration trials provides little commercial incentive to develop improved novel therapies for the treatment of late onset male hypogonadism. Selective androgen receptor modulators (SARMs) have been shown to provide anabolic benefit in the absence of androgenic effects on prostate, hair and skin. Current clinical development for SARMs is focused on acute muscle wasting conditions with defined clinical endpoints of physical function and lean body mass. Similar regulatory clarity concerning clinical deficits in men with hypogonadism is required before the beneficial pharmacology and desirable pharmacokinetics of SARMs can be employed in the treatment of late onset male hypogonadism. PMID:24407183

Severe sunburn and subsequent risk of primary cutaneous malignant melanoma in scotland.

Science.gov (United States)

MacKie, R. M.; Aitchison, T.

1982-01-01

A case-control study of occupational and recreational sun exposure, Mediterranean and other sun-exposed holidays, tanning history and history of isolated episodes of severe sunburn has been carried out on 113 patients with cutaneous malignant melanoma and 113 age- and sex-matched controls. Social class and skin type were also considered in the analysis of the data which involved the use of conditional multiple logistic regression. A highly significant increase in the history of severe sunburn was recorded in melanoma patients of both sexes in the 5-year period preceding presentation with their tumour. Higher social class and negative history of recreational sun exposure were also significantly increased in patients by comparison with controls. In the male group severe sunburn, lack of occupational sun exposure and higher social class were significant factors while in the female group only severe sunburn was significantly increased in the melanoma patients. This study thus provides evidence to suggest that short intense episodes of UV exposure resulting in burning may be one of the aetiological factors involved in subsequent development of melanoma. PMID:7150488

Cutaneous Paraneoplastic Manifestation (Morphea, Lichen Sclerosus – Two Case Reports

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Pappova T.

2017-04-01

Full Text Available Internal malignancy may be presented in the form of paraneoplastic syndromes, which may indicate either formation or recurrence of a previously treated malignancy. Furthermore cutaneous paraneoplastic disorders often precede a diagnosis of cancer. We present 2 unique case reports with cutaneous paraneoplastic manifestations. The first one describes a patient with sudden progression of long-term stabilized morphea in connection with newly diagnosed hepatocellular carcinoma (HCC. The second one describes female patient with breast cancer preceded by the development of extragenital lichen sclerosus (LS with typical sclerotic lesions and hemorrhagic bullae.

Late onset myoclonic epilepsy in Down syndrome and dementia

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Annapia Verri

2012-09-01

Full Text Available Specific forms of epilepsy may be found at various ages in Down Syndrome (DS and a sharp increase in the incidence of epilepsy with age has been documented. A specific type of myoclonic epilepsy associated with cognitive decline has been reported as “senile myoclonic epilepsy” or “late onset myoclonic epilepsy in DS” (LOMEDS. We report a new case of LOMEDS, documented by clinical and neurophysiological evaluation and psychometric assessment (DSDS and DMR. MF, male, affected by DS, was referred in 2004 at 40 years of age; he had no personal or familial history of epilepsy. Since one year, the patient presented cognitive deterioration, characterized by regression of language abilities, loss of memory, and loss of sphincters control. A brain TC showed mild brainstem and sub-cortical atrophy. In 2006, myoclonic jerks involving upper limbs occurred mainly after awakening. EEG showed a low voltage 8 Hz background activity with diffuse slow activity, intermingled with spikes or polyspikes, persisting during NREM sleep. MF was initially treated with clonazepam and after with topiramate, resulting in partial seizures control. MRI (2008 demonstrated diffuse brain atrophy, associated with marked ventricular enlargement. At the psychometric evaluation, onset of dementia was evident late in 2004, with transition to the middle stage in 2006. Last assessment (2009 showed the clinical signs of a late stage of deterioration, with loss of verbal abilities and autonomous ambulation. Using levetiracetam till 2,000 mg/die, myoclonic jerks decreased but are still present every day after awakening. On the EEG slow and poorly organized background activity with bilateral polyspike-wave discharges was recorded. Therefore, we documented a parallel progression of dementia and myoclonic epilepsy in a DS subject.

Human immunodeficiency virus-positive secondary syphilis mimicking cutaneous T-cell lymphoma.

Science.gov (United States)

Yamashita, Michiko; Fujii, Yoshiyuki; Ozaki, Keiji; Urano, Yoshio; Iwasa, Masami; Nakamura, Shingen; Fujii, Shiro; Abe, Masahiro; Sato, Yasuharu; Yoshino, Tadashi

2015-10-08

Malignant syphilis or lues maligna is a severe form of secondary syphilis that was commonly reported in the pre-antibiotic era, and has now reemerged with the advent of the human immunodeficiency virus (HIV) epidemic. However, the characteristic histopathological findings of malignant syphilis remain controversial. The aim of this case report was to clarify the clinical and histopathological findings of HIV-positive malignant secondary syphilis. A Japanese man in his forties complained of fever, skin lesions, headache, and myalgia without lymphadenopathy during the previous 4 weeks. The skin lesions manifested as erythematous, nonhealing, ulcerated papules scattered on his trunk, extremities, palm, and face. Although the skin lesions were suspected to be cutaneous T-cell lymphomas on histological analyses, they lacked T-cell receptor Jγ rearrangement; moreover, immunohistochemical analyses confirmed the presence of spirochetes. The patient was administered antibiotics and anti-retroviral therapy, which dramatically improved the symptoms. On the basis of these observations of the skin lesions, we finally diagnosed the patient with HIV-associated secondary syphilis that mimicked cutaneous T-cell lymphoma. The patient's systemic CD4+ lymphocyte count was very low, and the infiltrate was almost exclusively composed of CD8+ atypical lymphocytes; therefore, the condition was easily misdiagnosed as cutaneous lymphoma. Although the abundance of plasma cells is a good indicator of malignant syphilis on skin histological analyses, in some cases, the plasma cell count may be very low. Therefore, a diagnosis of malignant secondary syphilis should be considered before making a diagnosis of primary cutaneous peripheral T-cell lymphoma or lymphoma associated with HIV infection.

[Prognostic influence of cutaneous involvement in malignant tumors of the oral cavity].

Science.gov (United States)

Tankéré, F; Camproux, A; Barry, B; Guedon, C; Depondt, J; Gehanno, P

2000-03-01

The aim of this study was to assess the prognostic influence of cutaneous involvement in T4 squamous cell carcinoma of the oral cavity. The population was a homogeneous group of 137 patients. Cutaneous tumor localizations were observed in 20 of them. Surgery and radiotherapy were given in 103 cases and salvage surgery was performed in 34. Local control at 5 years was achieved in 68.5 % of the patients. Carcinologic failure rate was 55 % and 27.3 % in patients with and without cutaneous involvement respectively (p =0. 013). 5-year survivor rate was also correlated with cutaneous involvement: 10 % versus 32.2 % (p <0.0001).

Compound heterozygous mutations in electron transfer flavoprotein dehydrogenase identified in a young Chinese woman with late-onset glutaric aciduria type II

OpenAIRE

Xue, Ying; Zhou, Yun; Zhang, Keqin; Li, Ling; Kayoumu, Abudurexiti; Chen, Liye; Wang, Yuhui; Lu, Zhiqiang

2017-01-01

Background Glutaric aciduria type II (GA II) is an autosomal recessive disorder affecting fatty acid and amino acid metabolism. The late-onset form of GA II disorder is almost exclusively associated with mutations in the electron transfer flavoprotein dehydrogenase (ETFDH) gene. Till now, the clinical features of late-onset GA II vary widely and pose a great challenge for diagnosis. The aim of the current study is to characterize the clinical phenotypes and genetic basis of a late-onset GAII ...

Cerebral hemodynamic difference between early- and late-onset Alzheimer's disease by circumferential profile analysis with 123I-IMP brain SPECT

International Nuclear Information System (INIS)

Arai, Hisayuki; Hanyu, Haruo; Abe, Shinei; Asano, Tetsuichi; Takasaki, Masaru; Suzuki, Takanari; Abe, Kimihiko; Katsunuma, Hideyo.

1992-01-01

We conducted investigation to determine whether early- and late-onset Alzheimer's diseases differ pathophysiologically. Five patients with the early-onset (65 years and under) of the disease and 11 with the late-onset (65 years and over) of the disease were studied by single photon emission CT (SPECT) with N-isopropyl-p-[ 123 I]iodoamphetamine (IMP). Circumferential profile analysis (CPA) was performed to examine differences in the predominant hypoperfusion in the temporoparietal lobe, which is considered to be functionally damaged the most in Alzheimer's disease. The Xm values, calculated from gradients between the motorsensory or occipital cortices and temporoparietal cortex in the circumferential profile curve, were compared in both groups. The Xm values for patients with early- and late-onset Alzheimer's disease were 6.81±2.10 (counts/degree) and 3.28±1.58, respectively, the difference being significant. Our results suggest that functional abnormalities in the temporoparietal area severer in early- than late-onset Alzheimer's disease and that the application of CPA to IMP SPECT is useful to elucidate the pathophysiological difference between each of the disease. (author)

Late onset postoperative pulmonary fistula following a pulmonary segmentectomy using electrocautery or a harmonic scalpel.

Science.gov (United States)

Takagi, Keigo; Hata, Yoshinobu; Sasamoto, Shuichi; Tamaki, Kazuyoshi; Fukumori, Kazuhiko; Otsuka, Hajime; Hasegawa, Chiyoko; Shibuya, Kazutoshi

2010-08-01

The purpose of this study is to retrospectively examine the postoperative pulmonary fistula as a complication after the use of either electrocautery or a harmonic scalpel without stapling devices. The subjects of this study consisted of 28 patients who received a segmentectomy for a pulmonary malignant tumor, 25 cases of lung cancer and 3 of metastatic lung tumor. The electrocautery was used in 17 patients (EC group) and the harmonic scalpel in 11 (HS group). The levels of postoperative air leakage and postoperative complications were examined among the two groups retrospectively. The histological findings of the cut surface of the segmentectomy by electrocautery and harmonic scalpel were also examined. Hemostasis and air leakage both were well controlled during the operation, and the postoperative drainage period was short. No major postoperative complications occurred, and all patients began walking in the early postoperative days. However, 1 to 3 postoperative months after discharge, 8 patients showed late onset of a pulmonary fistula, 3 of the 17 (18%) in the EC group and 5 of the 11 (45%) in the HS group. The histological findings of the cut surface of the segmentectomy showed that most of the layer of coagulation necrosis by the harmonic scalpel measured 2 mm thick, and it was denser than that cut from electrocautery. The lumen of the bronchus markedly decreased in size, but it remained, as it also did under the effects of electrocautery. In the months following the operation, the incidence of the late onset of a pulmonary fistula was higher when the harmonic scalpel was used. It was believed that the small bronchial stump could not tolerate the airway pressure because the thick coagulation necrosis delayed healing of the postoperative wound. It was necessary to ligate the stump of a small bronchus, even though the stump had been temporally closed by coagulation necrosis with the electrocautery or harmonic scalpel during the operation.

Late-onset Pompe disease with complicated intracranial aneurysm: a Chinese case report

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Zhang B

2016-03-01

Full Text Available Bin Zhang,1,2,* Yuying Zhao,1,3,* Junling Liu,1,4 Ling Li,1 Jingli Shan,1 Dandan Zhao,1 Chuanzhu Yan1,3 1Laboratory of Neuromuscular Disorders and Department of Neurology, Qilu Hospital of Shandong University, Jinan, Shandong, 2Department of Neurology, Liaocheng People’s Hospital, Liaocheng, Shandong, 3Department of Neurology, Qilu Hospital of Shandong University, Key Laboratory for Experimental Teratology of the Ministry of Education, Brain Science Research Institute, Shandong University, Jinan, Shandong, 4Department of Neurology, Affiliated Hospital of Weifang Medical University, Weifang, Shandong, People’s Republic of China *These authors contributed equally to this work Abstract: Pompe disease is a rare autosomal recessive hereditary disease caused by genetic defects of acid maltase. This disease could be divided into two forms: infantile and late-onset, which mainly affect cardiac, respiratory, and skeletal muscle systems. Late-onset patients mainly show symptoms of skeletal muscle involvement, but recent reports have found that the central nervous system was also affected in some patients. Herein, we report a case of a female, adolescent-onset Pompe patient, who was diagnosed with complicated intracranial aneurysm in adulthood. Keywords: Pompe disease, glycogen storage disease II, acid maltase, acid alpha-glucosidase, cerebrovascular disorders

A Late Onset of Adrenocortical Cancer Assosiated with Beckwith-Wiedemann Syndrome

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N S Kuznetsov

2014-06-01

Full Text Available Beckwith-Wiedemann syndrome (BWS is a genetic overgrowth disorder involving a predisposition to tumor development. The common features of Beckwith-Wiedemann syndrome include omphalocele, macroglos- sia and macrosomia. The increased risk for neoplasia is concentrated in the first eight years of life. However, this case presents a late onset of adrenocortical cancer assosiated with Beckwith-Wiedemann syndrome.

Miliary pattern of brain metastases – a case report of a hyperacute onset in a patient with malignant melanoma documented by magnetic resonance imaging

International Nuclear Information System (INIS)

Reiter, Florian P.; Giessen-Jung, Clemens; Dorostkar, Mario M.; Ertl-Wagner, Birgit; Denk, Gerald U.; Heck, Suzette; Rieger, Christina T.; Pfister, Hans W.; Winkel, Mark op den

2015-01-01

Miliary brain metastases are a rare condition but associated with an exceedingly poor prognosis. We present the case of a patient suffering from malignant melanoma with an acute progressively worsening of neurological symptoms up to the loss of consciousness. The magnetic resonance imaging (MRI) demonstrated a new onset of disseminated, miliary spread of central nervous system metastases from a malignant melanoma within 4 days. We report on a 57-year-old woman suffering from metastatic malignant melanoma positive for BRAF-V600E mutation who developed an acute onset of neurological symptoms. The patient received vemurafenib and dacarbacin as chemotherapeutic regime for treatment of malignant melanoma. After admission to our hospital due to progressive disturbance of memory and speech difficulty a magnetic resonance tomography (MRI) was performed. This showed no evidence of cerebral tumour manifestation. The symptoms progressed until a loss of consciousness occurred on day five after admission and the patient was admitted to our intensive care unit for orotracheal intubation. No evidence for infectious, metabolic or autoimmune cerebral disorders was found. Due to the inexplicable acute worsening of the neurological symptoms a second MRI was performed on day five. This revealed a new onset of innumerable contrast-enhancing miliary lesions, especially in the grey matter which was proven as metastases from malignant melanoma on histopathology. This case describes an unique hyperacute onset of tumour progression correlating with an acute deterioration of neurological symptoms in a patient suffering from miliary brain metastasis from BRAF positive malignant melanoma

Is UV-A radiation a cause of malignant melanoma?

International Nuclear Information System (INIS)

Moan, J.

1994-01-01

The first action spectrum for cutaneous malignant melanoma was published recently. This spectrum was obtained using the fish Xiphophorus. If the same action spectrum applies to humans, the following statements are true: Sunbathing products (agents to protect against the sun) that absorb UV-B radiation provide almost no protection against cutaneous malignant melanoma. UV-A-solaria are more dangerous than expected so far. If people are determined to use artificial sources of radiation for tanning, they should choose UV-B solaria rather than UV-A-solaria. Fluorescent tubes and halogen lamps may have weak melanomagenic effects. Ozone depletion has almost no effect on the incidence rates of CMM, since ozone absorbs very little UV-A radiation. Sunbathing products which contain UV-A-absorbing compounds or neutral filter (like titanium oxide) provide real protection against cutaneous malignant melanoma, at least if they are photochemically inert. 34 refs., 2 figs

Enzyme replacement therapy in late-onset Pompe's disease : A three-year follow-up

NARCIS (Netherlands)

Winkel, LPF; Van den Hout, JMP; Kamphoven, JHJ; Disseldorp, JAM; Remmerswaal, M; Arts, WFM; Loonen, MCB; Vulto, AG; Van Doorn, PA; De Jong, G; Hop, W; Smit, GPA; Shapira, SK; Boer, MA; van Diggelen, OP; Reuser, AJJ; Van der Ploeg, AT

Pompe's disease is an autosomal recessive myopathy. The characteristic lysosomal storage of glycogen is caused by acid et-glucosidase deficiency. Patients with late-onset Pompe's disease present with progressive muscle weakness also affecting pulmonary function. In search of a treatment, we

Some interesting prognostic factors related to cutaneous malignant melanoma

International Nuclear Information System (INIS)

Joan Figueroa, AlejandroYuri; Diaz Anaya, Amnia; Montero Leon, Jorge Felipe; Jimenez Mendes, Lourdes

2010-01-01

INTRODUCTION: The aim of present research was to determine the independent prognostic value and the 3 and 5 years survival of more significant clinicopathological prognostic factors and in each stage, according to pathological staging system of tumor-nodule-metastasis (TNM) in patients with cutaneous malignant melanoma (CMM). METHODS: A longitudinal, descriptive and retrospective study was conducted applying the Cox proportional risk form and the Kaplan-Meier method, aimed to search of different risk variables in patients with CMM. We studied 157 patients with CMM, seen during 8 years (1993 to 2001), diagnosed and treated in National Institute of Oncology and Radiobiology of La Habana. RESULTS: The more powerful prognostic variables related to localized disease (stage I and II) were the Breslow density (P: 0,000), the mitosis rate (P: 0,004), and the Clark level (P: 0,04); among the variables related to the regional disease (stage III) the number of lymphatic ganglia involved was the more weighthy (P:0,000) and the more important in Stage IV was the distant visceral metastasis (P:0,003). Survival was decreasing according to the advance of the pathological stage of disease. CONCLUSIONS: The more involved independent prognostic factors were the Breslow rate, the number of involved regional lymphatic nodules and the distant visceral metastasis, which is endorsed by a world consensus. However, variables as age, sex, lesion site, ulceration, host-tumor inflammatory response, histological subtype, satellitosis and transient metastasis, considered as independent prognostic indicators in big casuistries, had not statistical significance in present paper. (author)

Late Onset Bipolar Disorder due to a Lacunar State

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Elena Antelmi

2014-01-01

Full Text Available Objective. To describe a patient with a new onset bipolar disorder (BD type II, secondary to a lacunar state. Background. Poststroke BD is rare and mainly associated with lesion in the prefrontal-striatal-thalamic circuit. Materials and Methods. A 51-year-old woman came to our attention for a mood disorder of recent onset. At 49, she had suffered acute left-sided limb weakness that improved spontaneously four days later. Arterial hypertension was subsequently diagnosed. After 6 months, she began to suffer from alternating brief periods of expansive and elevated mood with longer periods of depressed mood, with a suicide attempt. We performed extensive laboratory and instrumental investigations, as well as, psychiatric consultation, and a cognitive assessment, which was repeated 9 months later. Results. Brain magnetic resonance disclosed leukoaraiosis and a lacunar state of the basal ganglia. Transcranial Doppler showed a patent foramen ovale. A psychiatric consultation led to the diagnosis of BP type II. Neuropsychological evaluation detected deficits in attention/executive functions, verbal fluency, and memory. Nine months later, after specific psychiatric therapy, the psychiatric symptoms were remarkably improved. Conclusion. Our case sheds light on the role of the basal ganglia in mood disorders and the importance of ruling out brain injury in late onset BP.

Late-onset Tay-Sachs disease: adverse effects of medications and implications for treatment.

Science.gov (United States)

Shapiro, B E; Hatters-Friedman, S; Fernandes-Filho, J A; Anthony, K; Natowicz, M R

2006-09-12

The authors conducted a retrospective and brief prospective study of adverse effects of approximately 350 medications in 44 adults with late-onset Tay-Sachs disease (LOTS). Some medications were relatively safe, whereas others, particularly haloperidol, risperidone, and chlorpromazine, were associated with neurologic worsening.

Early and late onset depression in young and middle aged adults : Differential symptomatology, characteristics and risk factors?

NARCIS (Netherlands)

Korten, Nicole C. M.; Comijs, Hannie C.; Lamers, Femke; Penninx, Brenda W. J. H.

Background: Early onset depression (EOD) and late onset depression (LOD) may be different phenomena. In this study, differences between EOD and LOD in symptomatology, psychiatric characteristics and psychosocial/somatic factors were examined. Methods: Baseline data were from 1104 participants with a

Cutaneous angiosarcoma in a patient with xeroderma pigmentosum

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Arora Raman

2008-10-01

Full Text Available Xeroderma pigmentosum (XP is a rare, autosomal recessive disorder characterized by photosensitivity, cutaneous pigmentary changes, premature skin ageing and development of various cutaneous and internal malignancies at an early age as a result of a defect in nucleotide excision repair following ultraviolet light exposure. Cutaneous angiosarcomas are aggressive neoplasms that are rarely associated with XP. In this communication, we report the case of a 40-year-old male patient with XP who developed an angiosarcoma of the face and discuss the implications of this association in view of recent developments in this field.

Notch signalling in primary cutaneous CD30+ lymphoproliferative disorders: a new therapeutic approach?

DEFF Research Database (Denmark)

Kamstrup, M R; Biskup, E; Gniadecki, R

2010-01-01

The oncogenic potential of deregulated Notch signalling has been described in several haematopoietic malignancies. We have previously reported an increased expression of Notch1 in primary cutaneous CD30+ lymphoproliferative disorders, lymphomatoid papulosis and primary cutaneous anaplastic large...

Clinical radiobiology of malignant melanoma

International Nuclear Information System (INIS)

Bentzen, S.M.; Overgaard, J.; Overgaard, M.; Thames, H.D.; Vejby Hansen, P.; Von der Maase, H.; Meder, J.

1989-01-01

Tumor-control probability (TCP) was analyzed in a series of 121 patients having 239 histologically proven recurrent or metastatic malignant melanomas. These were treated with fractionated radiotherapy with various doses per fraction, total doses, and overall times. Cutaneous lesions (127,53%) were treated with electron beams, and more deeply seated tumors (112,47%) with 60 Co or 4-8 MV X-rays. The fraction size was highly variable, and this permitted determination of the α/β ration in the multifraction linearquadratic model, which was estimated at 0.57 Gy with 95% confidence limits [-1.07,2.5]Gy Threatment time had no demonstrable influenc on TCP. Thus this tumor exhibits the fractionation sensitivity characteristic of a late-responding normal tissue, suggesting that an adequate fractionation schedule for malignant melanomas would be characterized by larger-than-conventional doses per fraction, possibly about 6 Gy per fraction. This is consistent with the conclusions of other authors. Tumor size, evaluated as mean tumor diameter, S, had a major impact on TCP: the number of target cells increased as a power function of S with exponent 0.72 (95% confidence limits) [1.49, 0.94]. In fact, a considerable amount of the heterogeneity in the dose-responce data could be removed by accounting for size. Thus, the weak, or absent dose response became highly significant. When a patient had multiple lesions, the responses of these to radiotherapy tended to be similar, thus implying that results were significantly influenced by a 'hidden parameter' (such as inherent radiosensitivity or immunological status). A test of the predictive value of the TCP-model was performed in a different series of 183 cutaneous and lymph node malignant melanomas. The observed dose-response relationship in this data set was in good agreement with the model prediction. A chi-square test for goodness-of-fit showed that the variation between predicted and observed results could be explained by the

Radiological features of late-onset lymphoedema in Noonan's syndrome

Energy Technology Data Exchange (ETDEWEB)

Ho, Wan-Ling; Wang, Jou-Kou [Department of Pediatrics, National Taiwan University Hospital, Taipei (Taiwan); Li, Yiu-Wah [Department of Radiology, National Taiwan University Hospital, Taipei (Taiwan)

2003-03-01

Noonan's syndrome is a multiple congenital anomaly syndrome with diverse manifestations. Lymphatic abnormalities occur in less than 20% of patients. We report a 14-year-old boy who presented with swollen lower limbs and dysmorphic features characteristic of Noonan's syndrome. The radiological features of this unusual case of late-onset lymphoedema in association with Noonan's syndrome are presented. (orig.)

Late-Onset Nephrotic Syndrome in Galloway-Mowat Syndrome: A Case Report

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Hazza Issa

1999-01-01

Full Text Available Galloway-Mowat Syndrome (GMS has a wide variety of clinical manifestations and histologic findings. All reported cases had developed nephrotic syndrome in the first two years of life. We report a case of 12 years old boy with microcephaly, mental retardation, and typical dysmorphic features of GMS with a late onset of minimal change nephritic syndrome which first manifested at seven years of age.

The burden of occupationally-related cutaneous malignant melanoma in Britain due to solar radiation.

Science.gov (United States)

Rushton, Lesley; J Hutchings, Sally

2017-02-14

Increasing evidence highlights the association of occupational exposure and cutaneous malignant melanoma (CMM). We estimated the burden of CMM and total skin cancer burden in Britain due to occupational solar radiation exposure. Attributable fractions (AF) and numbers were estimated for CMM mortality and incidence using risk estimates from the published literature and national data sources for proportions exposed. We extended existing methods to account for the exposed population age structure. The estimated total AF for CMM is 2.0% (95% CI: 1.4-2.7%), giving 48 (95% CI: 33-64) deaths in (2012) and 241 (95% CI: 168-325) registrations (in 2011) attributable to occupational exposure to solar radiation. Higher exposure and larger numbers exposed led to much higher numbers for men than women. Industries of concern are construction, agriculture, public administration and defence, and land transport. These results emphasise the urgent need to develop appropriate strategies to reduce this burden.

Cutaneous Leiomyoma: Novel Histologic Findings for Classification and Diagnosis

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Kambiz Kamyab Hesari

2013-01-01

Full Text Available Smooth muscle tumors rather benign or malignant can arise wherever the muscular tissue presents but cutaneous leiomyoma is one of the rare benign tumors of the which even the diagnostic criteria from the malignant type of the tumor is still in doubt. This study was aimed to compare the subtypes of cutaneous leiomyoma from different histologic aspects in order to find unique criteria for better classification and diagnosis. The six year data base of our center was reviewed and 25 patients with cutaneous leiomyoma were included in this study. Of 25 patients, 5 were female and 20 were male. 5 patients had angioleiomyoma (ALM and 20 had pilar leiomyoma (PLM. ALM had following characteristics: dilated vascular canals intermingled with compact smooth muscle bundles; well circumscribe counter and myxoid and hyaline changes through the tumor. In contrast, PLMs had following histologic features: poor defined outline, entrapped hair follicles and eccrine glands, acanthosis and elongated rete ridges with hyperpigmentation and smooth muscle bundles which are interdigitated with elongated rete ridges. Here we introduced some distinct histological features for each subtype of the cutaneous leiomyoma which can lead to create novel criteria for classification and diagnosis of the lesion.

Central-peripheral temperature gradient: an early diagnostic sign of late-onset neonatal sepsis in very low birth weight infants.

Science.gov (United States)

Leante-Castellanos, José Luis; Lloreda-García, José M; García-González, Ana; Llopis-Baño, Caridad; Fuentes-Gutiérrez, Carmen; Alonso-Gallego, José Ángel; Martínez-Gimeno, Antonio

2012-04-22

We assessed central-peripheral temperature gradient alteration for the diagnosis of late-onset neonatal sepsis and compared earliness detection of this sign with altered blood cell count and C-reactive protein. Thirty-one preterm babies (peripheral) temperatures were continuously monitored with a thermal probe (ThermoTracer; Dräger Medical AGF & Co. KgaA, Lübeck, Germany) adjusting incubator air temperature for a thermal gradient peripheral temperature alteration was defined as a thermal gradient >2°C that could not be corrected with protocolized air temperature modifications. Proven (positive blood culture) sepsis and probable late-onset sepsis were recorded. Late-onset sepsis was diagnosed in 11 neonates (proven, 9; probable, 2). Thermal gradient alteration was present in 12 cases, in association with the onset of sepsis in 10 and concomitantly with a ductus arteriosus and stage 1 necrotizing enterocolitis in 2. Thermal gradient alteration had a sensitivity of 90.9% [95% confidence interval (CI), 62.3-98.4] and specificity of 90% (95% CI, 69.9-97.2%), and in 80% of cases, it occurred before abnormal laboratory findings. Central-peripheral temperature gradient monitoring is a feasible, non-invasive, and simple tool easily applicable in daily practice. An increase of >2°C showed a high-sensitivity and specificity for the diagnosis of late-onset sepsis.

Impulsivity in abstinent early- and late-onset alcoholics : differences in self-report measures and a discounting task

NARCIS (Netherlands)

Dom, G.; D'Haene, P.; Hulstijn, W.; Sabbe, B.G.C.

2006-01-01

Aims: To test the hypothesis that early-onset alcoholics (EOAs) can be differentiated from late-onset alcoholics (LOAs) by more severe substance-related problems and higher levels of impulsivity and aggression. Design and measurements: A cross-sectional patient survey with a community comparison

Psychiatric comorbidities of adults with early- and late-onset attention-deficit/hyperactivity disorder.

Science.gov (United States)

Lin, Yu-Ju; Yang, Li-Kuang; Gau, Susan Shur-Fen

2016-06-01

We evaluated the psychiatric comorbidities in adults who were diagnosed with Diagnostic and Statistical Manual of Mental disorders, 5th edition attention-deficit/hyperactivity disorder as a function of recalled symptom onset before and after the age of 7 years and whether the childhood attention-deficit/hyperactivity disorder symptoms were associated with psychiatric comorbidities. In all, 214 adults who were diagnosed with Diagnostic and Statistical Manual of Mental disorders, 5th edition attention-deficit/hyperactivity disorder and 174 non-attention-deficit/hyperactivity disorder controls (aged 17-40 years) received psychiatric interviews to confirm their previous and current attention-deficit/hyperactivity disorder status and other psychiatric diagnoses. Demographics and risks of lifetime psychiatric disorders were compared among three groups: (1) attention-deficit/hyperactivity disorder, onset attention-deficit/hyperactivity disorder, onset between 7 and 12 years (late-onset) and (3) non-attention-deficit/hyperactivity disorder controls. We also tested the effects of attention-deficit/hyperactivity disorder symptoms on the risk of later psychiatric comorbidities by Cox regression analyses. Regardless of the age of onset, attention-deficit/hyperactivity disorder was significantly associated with a wide range of psychiatric comorbidities. There were similar comorbid patterns between early- and late-onset attention-deficit/hyperactivity disorder. Regardless of attention-deficit/hyperactivity disorder diagnosis, increased severity of attention-deficit/hyperactivity disorder symptoms was associated with higher risks of oppositional defiant disorder, conduct disorder, dysthymia and sleep disorder but not major depression, which was associated with the attention-deficit/hyperactivity disorder diagnosis. Our findings suggest that elevating the threshold of age of onset to 12 years in Diagnostic and Statistical Manual of Mental disorders, 5th edition would not

Late-Onset Inflammatory Response to Hyaluronic Acid Dermal Fillers

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Tahera Bhojani-Lynch, MRCOphth, CertLRS, MBCAM, DipCS

2017-12-01

Conclusion:. Late-onset inflammatory reactions to HA fillers may be self-limiting but are easily and rapidly treatable with oral steroids, and with hyaluronidase in the case of lumps. It is likely these reactions are due to a Type IV delayed hypersensitivity response. Delayed inflammation associated with HA fillers is nonbrand specific. However, the case where 2 different brands were injected during the same session, but only 1 brand triggered a hypersensitivity reaction, suggests that the technology used in the manufacturing process, and the subsequent differing products of degradation, may have an influence on potential allergic reactions to HA fillers.

The effects of eliciting implicit versus explicit social support among youths susceptible for late-onset smoking.

Science.gov (United States)

Roberts, Megan E; Bernstein, Michael H; Colby, Suzanne M

2016-11-01

Adolescents susceptible to late-onset smoking (becoming regular smokers at age 18 or later) are an understudied population. Social support is a promising target for intervention, but it is important to distinguish between implicit social support (reminders that one belongs to a network of valued others) and explicit social support (seeking and receiving advice and emotional solace). This study aimed to test the potential protective influence of implicit and explicit social support on reducing the risk of late-onset smoking. Fifty-eight smoking-susceptible youths (aged 16-18, 45% African American, 55% non-Hispanic White) completed an experimental session that included a video-recording task designed to elicit thoughts about implicit, explicit, or no social support. Youths reported their behavioral willingness and intentions (BW and BI) to smoke immediately following the social support manipulation; a random sample of 39 youths reported again at a 3-week follow-up. Following the manipulation, BW and BI for cigarette smoking were significantly higher among youths assigned to the explicit-support condition, compared to those in the implicit-support or control conditions. At follow-up, BW and BI were highest in the explicit-support condition and lowest in the implicit-support condition, but the differences were not significant. Overall, findings indicated that for teens susceptible for late-onset smoking, eliciting thoughts about implicit social support produces lower risk for cigarette initiation than does eliciting thoughts about explicit social support. The present results and the video task that yielded them are important to researchers and practitioners interested in reducing the likelihood of late-onset smoking. Copyright © 2016 Elsevier Ltd. All rights reserved.

Culture proven newborn sepsis with a special emphasis on late onset sepsis caused by Enterobacteriaceae in a level III neonatal care unit in Astana, Kazakhstan.

Science.gov (United States)

Kangozhinova, Kalamkas; Abentayeva, Botakoz; Repa, Andreas; Baltabayeva, Assem; Erwa, Wolfgang; Stauffer, Friedrich

2013-10-01

Newborn sepsis is one of the major public health concerns worldwide. Also in our neonatal care unit, it is one of the major problems and especially infections with Enterobacteriaceae were noted to pose an increasing problem in the last years. Data collection was done retrospectively for 2011. Early onset sepsis was defined as having a positive blood culture within 72 h and late onset sepsis after 72 h of delivery. Out of 599 patients being admitted, 58 newborns were assessed having a neonatal sepsis. Of these 58 newborns with sepsis, 11 were diagnosed within 72 h post delivery (early onset) and 47 were diagnosed after 72 h post delivery (late onset). The percentage of Enterobacteriaceae causing late onset sepsis was 57.5 %. Among these, Klebsiella pneumoniae could be isolated in 29.8 %, Enterobacter cloacae in 12.8 %, Enterobacter aerogenes in 8.5 %, and Escherichia coli in 6.4 % of late onset sepsis. Majority of the strains showed a resistance to antibiotics used in empiric treatment. Antibiotic prophylaxis/treatment from birth until the onset of late onset sepsis could be analyzed in 20 out of 27 newborns with late onset sepsis caused by Enterobacteriaceae. A regimen of empirical antibiotic treatment containing aminopenicillin and/or gentamicin was administered in 16 newborns and that of cephalosporin in 14 out of 20 newborns for at least 5 days before onset of sepsis. The association of empiric long-term antibiotic treatment and the high number of late onset sepsis with often multiresistant Enterobacteriaceae might be causal and urges for a change in general antibiotic prophylaxis/treatment in newborns admitted to the neonatal care unit of our hospital.

Late neurological complications after irradiation of malignant tumors of the testis

DEFF Research Database (Denmark)

Knap, Marianne; Bentzen, Søren M.; Overgaard, Jens

2007-01-01

To identify and describe late neurological complications in a Danish testis cancer cohort treated by radiotherapy. Clinical retrospective material of 94 consecutive patients with malignant testicular tumours treated at Aarhus County Hospital from 1964 to 1973. The irradiated dose in the paraaortic...... field varied from 27 to 55 Gy given 5 or 6 days a week, from the back and front alternately. The biological equivalent dose of the spinal cord was calculated using the linear-quadratic model. Median follow-up was 25 years, range 7 to 33 years. Seven patients were identified with late neurological...... complications after irradiation. One developed symptoms 9 months after treatment, but in the six other cases we found a latency period between 10 and 20 years from radiotherapy until the initial neurological symptoms began. The clinical picture in all seven patients was dominated by muscle atrophy, flaccid...

Secondary late-onset Lennox-Gastaut syndrome: a critical view

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Amilton Antunes Barreira

1984-06-01

Full Text Available From a group of 66 patients with the Lennox-Gastaut syndrome, 12 whose manifestations had started after the 6th year of life were selected for study. These patients were observed clinically and electroencephalographically for an average period of 2.5 years. We concluded that the late-onset syndrome can: occur after a long interval between diffuse encephalopathy and the first clinical manifestations, with or without previous alterations in psychomotor development; be associated from the onset with serious mental retardation; exhibit simple, complex and mixed seizures similar to those observed in the early form. These patients can also: suffer complex and mixed epileptic seizures previously unreported; paroxismal interictal EEG abnormalities that overlap those of the early form; and spike-slow wave complexes in the EEG that can be actived by hyperpnea. Our results demonstrate that the incidence of LGS after 6 years of age does not necessarily imply a lower frequency of organic antecedents, or beter neu-ropsychomotor development up to the onset of the syndrome or the presence of a higher rate of nonspecific seizures (generalized or partial seizures, and mainly those with elaborate symptomatolgy. The critical and encephalographic expression of the syndrome, which is secondary and starts after the 6th year of age, may depend at least in part on the age when diffuse encephalopathy started.

Post-Traumatic Late Onset Cerebral Ischemia

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Gencer Genc

2014-03-01

Full Text Available Artery-to-artery emboli or occlusion of craniocervical arteries mostly due to dissection are the most common causes of ischemia after trauma. A 29 year-old male had been admitted to another hospital with loss of consciousness lasting for about 45 minutes after a hard parachute landing without head trauma three days ago. As his neurological examination and brain CT were normal, he had been discharged after 24 hours of observation. Two days after his discharge, he was admitted to our department with epileptic seizure. His neurological examination revealed left hemianopia. After observing occipital subacute ischemia at right side in brain magnetic resonance imaging (MRI, we performed cerebral angiography and no dissection was observed. Excluding the rheumatologic, cardiologic and vascular events, our final diagnosis was late onset cerebral ischemia. Anti-edema and antiepileptic treatment was initiated. He was discharged with left hemianopia and mild cognitive deficit. We suggest that it will be wise to hospitalize patients for at least 72 hours who has a history of unconsciousness following trauma.

Potential late-onset Alzheimer's disease-associated mutations in the ADAM10 gene attenuate {alpha}-secretase activity.

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Kim, Minji; Suh, Jaehong; Romano, Donna; Truong, Mimy H; Mullin, Kristina; Hooli, Basavaraj; Norton, David; Tesco, Giuseppina; Elliott, Kathy; Wagner, Steven L; Moir, Robert D; Becker, K David; Tanzi, Rudolph E

2009-10-15

ADAM10, a member of a disintegrin and metalloprotease family, is an alpha-secretase capable of anti-amyloidogenic proteolysis of the amyloid precursor protein. Here, we present evidence for genetic association of ADAM10 with Alzheimer's disease (AD) as well as two rare potentially disease-associated non-synonymous mutations, Q170H and R181G, in the ADAM10 prodomain. These mutations were found in 11 of 16 affected individuals (average onset age 69.5 years) from seven late-onset AD families. Each mutation was also found in one unaffected subject implying incomplete penetrance. Functionally, both mutations significantly attenuated alpha-secretase activity of ADAM10 (>70% decrease), and elevated Abeta levels (1.5-3.5-fold) in cell-based studies. In summary, we provide the first evidence of ADAM10 as a candidate AD susceptibility gene, and report two potentially pathogenic mutations with incomplete penetrance for late-onset familial AD.

Xeroderma Pigmentosum With Early And Rapid Development Of Malignancy

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Ghosh Arghyaprasum

2000-01-01

Full Text Available A case of xeroderma pigmentosum in a 9 year old developing multiple tumours over a short period of 6 months is reported. The tumours showed two different types of malignancies-squamous cell carcinoma and malignant melanoma. Two other siblings exhibited cutaneous lesions of xeroderma pigmentosum without any malignant change.

Characterization of neuromyelitis optica and neuromyelitis optica spectrum disorder patients with a late onset.

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Collongues, N; Marignier, R; Jacob, A; Leite, M I; Siva, A; Paul, F; Zephir, H; Akman-Demir, G; Elsone, L; Jarius, S; Papeix, C; Mutch, K; Saip, S; Wildemann, B; Kitley, J; Karabudak, R; Aktas, O; Kuscu, D; Altintas, A; Palace, J; Confavreux, C; De Seze, J

2014-07-01

Few data are available for patients with a late onset (≥ 50 years) of neuromyelitis optica (LONMO) or neuromyelitis optica spectrum disease (LONMOSD), defined by an optic neuritis/longitudinally extensive transverse myelitis with aquaporin-4 antibodies (AQP4-Ab). To characterize LONMO and LONMOSD, and to analyze their predictive factors of disability and death. We identified 430 patients from four cohorts of NMO/NMOSD in France, Germany, Turkey and UK. We extracted the late onset patients and analyzed them for predictive factors of disability and death, using the Cox proportional model. We followed up on 63 patients with LONMO and 45 with LONMOSD during a mean of 4.6 years. This LONMO/LONMOSD cohort was mainly of Caucasian origin (93%), women (80%), seropositive for AQP4-Ab (85%) and from 50 to 82.5 years of age at onset. No progressive course was noted. At last follow-up, the median Expanded Disability Status Scale (EDSS) scores were 5.5 and 6 in the LONMO and LONMOSD groups, respectively. Outcome was mainly characterized by motor disability and relatively good visual function. At last follow-up, 14 patients had died, including seven (50%) due to acute myelitis and six (43%) because of opportunistic infections. The EDSS 4 score was independently predicted by an older age at onset, as a continuous variable after 50 years of age. Death was predicted by two independent factors: an older age at onset and a high annualized relapse rate. LONMO/LONMOSD is particularly severe, with a high rate of motor impairment and death. © The Author(s) 2013.

A Historical Cohort Study on the Efficacy of Glucocorticoids and Riboflavin Among Patients with Late-onset Multiple Acyl-CoA Dehydrogenase Deficiency.

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Liu, Xin-Yi; Wang, Zhi-Qiang; Wang, Dan-Ni; Lin, Min-Ting; Wang, Ning

2016-01-20

Late-onset multiple acyl-CoA dehydrogenase deficiency (MADD) is the most common type of lipid storage myopathies in China. Most patients with late-onset MADD are well responsive to riboflavin. Up to now, these patients are often treated with glucocorticoids as the first-line drug because they are misdiagnosed as polymyositis without muscle biopsy or gene analysis. Although glucocorticoids seem to improve the fatty acid metabolism of late-onset MADD, the objective evaluation of their rationalization on this disorder and comparison with riboflavin treatment are unknown. We performed a historical cohort study on the efficacy of the two drugs among 45 patients with late-onset MADD, who were divided into glucocorticoids group and riboflavin group. Detailed clinical information of baseline and 1-month follow-up were collected. After 1-month treatment, a dramatic improvement of muscle strength was found in riboflavin group (P riboflavin group (P riboflavin group still presented high-level muscle enzymes and weak muscle strength after 1-month riboflavin treatment, meaning that 1-month treatment duration maybe insufficient and patients should keep on riboflavin supplement for a longer time. Our results provide credible evidences that the overall efficacy of riboflavin is superior to glucocorticoids, and a longer duration of riboflavin treatment is necessary for patients with late-onset MADD.

Differences of neuroimaging between early-onset and late-onset alzheimer-type dementia

International Nuclear Information System (INIS)

Hanyu, Haruo; Nakano, Seigo; Abe, Shin'e; Arai, Hisayuki; Iwamoto, Toshihiko; Takasaki, Masaru

1995-01-01

Several studies have shown that the symptomatology and the neuropathological and neurochemical changes of early-onset Alzheimer's disease (EAD) differ from those of late-onset Alzheimer's disease (LAD). The aim of the present study is to examine differences in SPECT and MRI findings between EAD and LAD. Cerebral blood flow and patterns on SPECT, and deep white matter lesions and cerebral atrophy on MRI in 17 patients with EAD were compared with 30 patients with LAD without cerebrovascular risk factors. Temporoparietal activity ratio, divided by cerebellum, on SPECT imaging in patients with EAD was significantly lower than in patients with LAD. In a qualitative assessment of perfusion patterns, bilateral temporoparietal hypoperfusion, which is typical in AD, was seen more frequently in patients with EAD than in those with LAD. Among white matter changes in MRI, the score of white matter hyperintensity was significantly higher in LAD than in EAD patients. However, there was no significant difference between periventricular hyperintensity scores. Though ventricular enlargement did not differ significantly in EAD and LAD, cortical atrophy scores in LAD were significantly higher than in EAD. Cortical atrophy scores were significantly higher in patients with atypical perfusion patterns on SPECT (e.g. global hypoperfusion in addition to temporoparietal change) than in patients with typical perfusion pattern. These results indicate that functional and morphological imagings in LAD differ with those in EAD, probably due to less-prominent neuropathological degeneration combined with age-related alterations. (author)

Differences of neuroimaging between early-onset and late-onset alzheimer-type dementia

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Hanyu, Haruo; Nakano, Seigo; Abe, Shin` e; Arai, Hisayuki; Iwamoto, Toshihiko; Takasaki, Masaru [Tokyo Medical Coll. (Japan)

1995-10-01

Several studies have shown that the symptomatology and the neuropathological and neurochemical changes of early-onset Alzheimer`s disease (EAD) differ from those of late-onset Alzheimer`s disease (LAD). The aim of the present study is to examine differences in SPECT and MRI findings between EAD and LAD. Cerebral blood flow and patterns on SPECT, and deep white matter lesions and cerebral atrophy on MRI in 17 patients with EAD were compared with 30 patients with LAD without cerebrovascular risk factors. Temporoparietal activity ratio, divided by cerebellum, on SPECT imaging in patients with EAD was significantly lower than in patients with LAD. In a qualitative assessment of perfusion patterns, bilateral temporoparietal hypoperfusion, which is typical in AD, was seen more frequently in patients with EAD than in those with LAD. Among white matter changes in MRI, the score of white matter hyperintensity was significantly higher in LAD than in EAD patients. However, there was no significant difference between periventricular hyperintensity scores. Though ventricular enlargement did not differ significantly in EAD and LAD, cortical atrophy scores in LAD were significantly higher than in EAD. Cortical atrophy scores were significantly higher in patients with atypical perfusion patterns on SPECT (e.g. global hypoperfusion in addition to temporoparietal change) than in patients with typical perfusion pattern. These results indicate that functional and morphological imagings in LAD differ with those in EAD, probably due to less-prominent neuropathological degeneration combined with age-related alterations. (author).

Brain morphological and microstructural features in cryptogenic late-onset temporal lobe epilepsy: a structural and diffusion MRI study.

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Sone, Daichi; Sato, Noriko; Kimura, Yukio; Watanabe, Yutaka; Okazaki, Mitsutoshi; Matsuda, Hiroshi

2018-04-13

Although epilepsy in the elderly has attracted attention recently, there are few systematic studies of neuroimaging in such patients. In this study, we used structural MRI and diffusion tensor imaging (DTI) to investigate the morphological and microstructural features of the brain in late-onset temporal lobe epilepsy (TLE). We recruited patients with TLE and an age of onset > 50 years (late-TLE group) and age- and sex-matched healthy volunteers (control group). 3-Tesla MRI scans, including 3D T1-weighted images and 15-direction DTI, showed normal findings on visual assessment in both groups. We used Statistical Parametric Mapping 12 (SPM12) for gray and white matter structural normalization and comparison and used Tract-Based Spatial Statistics (TBSS) for fractional anisotropy and mean diffusivity comparisons of DTI. In both methods, p < 0.05 (family-wise error) was considered statistically significant. In total, 30 patients with late-onset TLE (mean ± SD age, 66.8 ± 8.4; mean ± SD age of onset, 63.0 ± 7.6 years) and 40 healthy controls (mean ± SD age, 66.6 ± 8.5 years) were enrolled. The late-onset TLE group showed significant gray matter volume increases in the bilateral amygdala and anterior hippocampus and significantly reduced mean diffusivity in the left temporofrontal lobe, internal capsule, and brainstem. No significant changes were evident in white matter volume or fractional anisotropy. Our findings may reflect some characteristics or mechanisms of cryptogenic TLE in the elderly, such as inflammatory processes.

Life-threatening intracranial bleeding in a newborn with congenital cytomegalovirus infection: late-onset neonatal hemorrhagic disease.

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Dallar, Yildiz; Tiras, Ulku; Catakli, Tulin; Gulal, Gonul; Sayar, Yavuz; Selvar, Beray; Alioglu, Bulent

2011-02-01

The authors present a case of a 36-day-old infant with intracranial and intramuscular hemorrhage due to vitamin K deficiency bleeding, who received intramuscular vitamin K prophylaxis at birth. In this case, laboratory tests showed anemia, liver dysfunction with cholestasis, and coagulopathy, consistent with vitamin K deficiency abnormality. Serological analyses showed that cytomegalovirus immunoglobulin (Ig)M and IgG avidity were both positive. The infant was treated successfully with intravenous ganciclovir and blood products. This case suggests that it is imperative to meticulously investigate the etiology in neonates with late-onset hemorrhagic disease of the newborn. Cholestatic liver disease caused by congenital cytomegalovirus infection should be in mind in term infants who presented with late-onset hemorrhagic disease.

Relationship between Adiponectin Gene Polymorphisms and Late-Onset Alzheimer's Disease.

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Wei Li

Full Text Available In recent years, researchers have found that adiponectin (ANP plays an important role in the pathogenesis of Alzheimer's disease (AD, and low serum concentrations of ANP are associated with AD. Higher plasma ANP level have a protective effect against the development of cognitive decline, suggesting that ANP may affect AD onset. Meanwhile, accumulating evidence supports the crucial role of ANP in the pathogenesis of AD. To study the relationship between ANP gene polymorphisms (rs266729, -11377C>G and rs1501299, G276T and late-onset AD (LOAD, we carried out a case-control study that included 201 LOAD patients and 257 healthy control subjects. Statistically significant differences were detected in the genotype and allelotype frequency distributions of rs266729 and rs1501299 between the LOAD group and the control group, with a noticeable increase in the G and T allelotype frequency distributions in the LOAD group (P 0.05 between the LOAD group and control group, whereas the CG and GT haplotypes were significantly different (P < 0.05, suggesting a negative correlation between the CG haplotype and LOAD onset (OR = 0.74, 95% CI = 0.57-0.96, P = 0.022, and a positive correlation between the GT haplotype and LOAD onset (OR = 2.29, 95% CI = 1.42-3.68, P = 0.005. Therefore, we speculated that the rs266729 and rs1501299 of ANP gene polymorphisms and the GT and CG haplotypes were associated with LOAD.

Late onset bipolar disorder and frontotemporal dementia with mutation in progranulin gene: a case report.

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Rubino, Elisa; Vacca, Alessandro; Gallone, Salvatore; Govone, Flora; Zucca, Milena; Gai, Annalisa; Ferrero, Patrizia; Fenoglio, Pierpaola; Giordana, Maria Teresa; Rainero, Innocenzo

2017-11-01

Bipolar disorder is a chronic psychiatric illness characterised by fluctuation in mood state, with a relapsing and remitting course. Frontotemporal dementia (FTD) is a clinically and genetically heterogeneous syndrome, with the most frequent phenotype being behavioural variant frontotemporal dementia (bvFTD). Here, we report the case of an Italian male presenting with late-onset bipolar disorder that developed into bvFTD over time, carrying a mutation in the GRN gene. Interestingly, the patient carried the c.1639 C > T variant in the GRN gene, resulting in a R547C substitution. Our case report further corroborates the notion that, in addition to FTD, progranulin may be involved in the neurobiology of bipolar disorder type 1, and suggests to screen patients with late-onset bipolar disorder for GRN mutations.

Potential late-onset Alzheimer's disease-associated mutations in the ADAM10 gene attenuate α-secretase activity

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Kim, Minji; Suh, Jaehong; Romano, Donna; Truong, Mimy H.; Mullin, Kristina; Hooli, Basavaraj; Norton, David; Tesco, Giuseppina; Elliott, Kathy; Wagner, Steven L.; Moir, Robert D.; Becker, K. David; Tanzi, Rudolph E.

2009-01-01

ADAM10, a member of a disintegrin and metalloprotease family, is an α-secretase capable of anti-amyloidogenic proteolysis of the amyloid precursor protein. Here, we present evidence for genetic association of ADAM10 with Alzheimer's disease (AD) as well as two rare potentially disease-associated non-synonymous mutations, Q170H and R181G, in the ADAM10 prodomain. These mutations were found in 11 of 16 affected individuals (average onset age 69.5 years) from seven late-onset AD families. Each mutation was also found in one unaffected subject implying incomplete penetrance. Functionally, both mutations significantly attenuated α-secretase activity of ADAM10 (>70% decrease), and elevated Aβ levels (1.5–3.5-fold) in cell-based studies. In summary, we provide the first evidence of ADAM10 as a candidate AD susceptibility gene, and report two potentially pathogenic mutations with incomplete penetrance for late-onset familial AD. PMID:19608551

Neuroanatomical and neuropsychological features of elderly euthymic depressed patients with early- and late-onset

NARCIS (Netherlands)

Delaloye, C.; Moy, G.; de Bilbao, F.; Baudois, S.; Weber, K.; Hofer, F.; Paquier, C.R.; Donati, A.; Canuto, A.G.U.; von Gunten, A.; Stancu, R.I.; Lazeyras, F.; Millet, P.; Scheltens, P.; Giannakopoulos, P.; Gold, G.

2010-01-01

Background: Whether or not cognitive impairment and brain structure changes are trait characteristics of late-life depression is still disputed. Previous studies led to conflicting data possibly because of the difference in the age of depression onset. In fact, several lines of evidence suggest that

Late-onset Tay-Sachs disease: phenotypic characterization and genotypic correlations in 21 affected patients.

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Neudorfer, Orit; Pastores, Gregory M; Zeng, Bai J; Gianutsos, John; Zaroff, Charles M; Kolodny, Edwin H

2005-02-01

The purpose of this study was to describe the phenotype (and corresponding genotype) of adult patients with late-onset Tay-Sachs disease, a clinical variant of the GM2-gangliosidoses. A comprehensive physical examination, including neurological assessments, was performed to establish the current disease pattern and severity. In addition, the patients' past medical histories were reviewed. The patients' alpha-subunit mutations (beta-Hexosaminidase A genotype) were determined and correlated with their corresponding clinical findings and disease course. Twenty-one patients (current mean age: 27.0 years; range: 14-47 years) were identified. The pedigree revealed a relative with the "classic" infantile or late-onset form of Tay-Sachs disease in four (out of 18) unrelated families. The patients were predominantly male (15/21 individuals) and of Ashkenazi Jewish ancestry (15/18 families). Mean age at onset was 18.1 years; balance problems and difficulty climbing stairs were the most frequent presenting complaints. In several cases, the diagnosis was delayed (mean age at diagnosis: 27.0 years). Analysis of the beta-hex A gene revealed the G269S mutation as the most common disease allele; found in homozygosity (N = 1) or heterozygosity (N = 18; including 2 sib pairs). Disease onset (age 36 years) was delayed and progression relatively slower in the homozygous G269S patient. Two siblings (ages 28 and 31 years), of non-Jewish ancestry, were compound heterozygotes (TATC1278/W474C); their clinical course is dominated by psychiatric problems. Brain imaging studies revealed marked cerebellar atrophy in all patients (N = 18) tested, regardless of disease stage. Late-onset Tay-Sachs disease is an infrequent disorder and the diagnosis is often missed or delayed (by approximately 8 years). Early on, the majority of patients develop signs of either cerebellar or anterior motor neuron involvement. Affected individuals may also develop psychotic episodes. In most cases, the later-onset

Regional cerebral blood flow changes and neuropsychological functioning in early and late onset alcoholism

International Nuclear Information System (INIS)

Demir, B.; Ulug, B.; Ergun, E.; Erbas, B.

2002-01-01

Aim: Chronic alcoholism is strongly associated with morphologic and functional abnormalities in the brain. The age-of-onset of alcoholism symptoms might be of discriminating value and can be used to subdivide the population into more homogeneous groups. The aim of the study was to compare late and early onset alcoholism with regard to regional cerebral blood flow (rCBF) and neuropsychological functioning. Methods: Ten late onset (Type I) and thirteen early onset (Type II) male alcoholics were included in the study, the criterion being the age of onset for alcohol abuse. Six healthy, age-matched, male volunteers were included as a control group. rCBF changes were assessed using Tc-99m-HMPAO/SPECT after a detoxification period. Transaxial slices were assessed visually and semi quantitatively. Regional mean counts were divided to the mean counts of cerebellar and occipital regions to obtain semiquantitative ratios for superior frontal, middle frontal, inferior frontal, temporal and parietal lobes for the left and right hemispheres. The neuropsychological battery consisted of the Wisconsin Card Sorting Test, the Wechsler Memory Scale and the Word Fluency Test. Results: Type I and II groups had significantly asymmetric blood flow in the frontal region compared to control group (Left frontal percentage; Type I%46.8±2, Type II=48.3±2.3, Control=50.8±3, p=0.008). The semiquantitative ratios for the frontal subregions were lower for the patients compared to those of control group, however, statistically significant difference was observed only for the ratio of superior frontal region to occipital region in type I patients, for both left and right. The difference between the two subgroups was not statistically significant. Both groups of alcoholic patients also displayed impairment in frontal lobe functions and non-verbal memory. No significant difference was detected between the alcoholic subgroups on neuropsychological measures. There was no significant correlation

Malignant proliferating trichilemmal tumour presenting early in life: An uncommon feature

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Shalinee Rao

2011-01-01

Full Text Available Malignant proliferating trichilemmal tumour is a rare cutaneous malignant neoplasm usually occurring in elderly women. We present a case of malignant trichilemmal tumour in a young lady of 26 years of age with a previous history of proliferating trichilemmal tumour at the same site.

Squamous cell carcinoma developing in a cutaneous lichen planus lesion: a rare case.

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Ghosh, Saptarshi; Kotne, Sivasankar; Ananda Rao, P B; Turlapati, S P V; Kumar Soren, Dillip

2014-01-01

Lichen planus is a benign disorder characterized by an itchy, noninfectious skin rash. Though lichen planus is a common papulosquamous disorder affecting about 1-2% of the population, neoplastic transformation of cutaneous lichen planus lesions occurs very rarely and should be borne in mind while treating nonhealing longstanding lesions of lichen planus. Studies suggest an estimated 0.3-3% risk of malignancy in patients with oral lichen planus, however, cutaneous lichen planus does not carry an increased risk of malignant degeneration. We present a case of a 36-year-old male with a 10-year-long history of hypertrophic lichen planus who presented with a nonhealing ulcer in the left popliteal fossa. The patient underwent wide local excision with superficial skin grafting. Postoperative histopathological examination revealed verrucous squamous cell carcinoma complicating lichen planus. In view of underlying structure involvement, adjuvant radiation therapy was given. This case is being reported to emphasize the infrequent possibility of development of malignancy in cutaneous lichen planus, especially if it presents as a longstanding, nonhealing, itchy lesion with patchy areas of depigmentation in the lower limbs.

MUC1 positive cutaneous metastasis with transepidermal elimination from a breast carcinoma

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Luna A

2013-11-01

Full Text Available Amalia Luna, Maria Emilia Merino, Cecilio G Alberdi, Martin C Abba, Amada Segal-Eiras, Maria Virginia Croce Center of Basic and Applied Immunological Research, Faculty of Medical Sciences, National University of La Plata, Argentina Abstract: Breast cancer is the most common cause of cutaneous metastases from internal malignancies. Generally, the neoplastic cells are located in the dermis or hypodermis, while a finding of transepidermal elimination on cutaneous metastases is exceptional. In this report we present a patient with perforating cutaneous metastases from breast cancer with mucin 1 expression. Cutaneous, bone, lung, and hepatic lesions were detected two years after the diagnosis of the primary tumor. Keywords: breast cancer, cutaneous metastasis, transepidermal elimination, MUC1

Comparison of microbial pattern in early and late onset neonatal sepsis in referral center Haji Adam Malik hospital Medan Indonesia

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Hasibuan, B. S.

2018-03-01

Neonatal sepsis contributes a significant rate of infants mortality and morbidity. The pathogens are diverse from region to another and change time to time even in the same place. To analyze the microbial pattern in early and late onset neonatal sepsis andthe pattern of antibiotic resistance of the causative microbes at one of referral center hospital in Indonesia, Haji Adam Malik Hospital, a cross-sectional descriptive study was conducted on neonates with sepsis diagnosis proven with positive blood culture within one year period (2015-2016). Among 626 neonates admitted to perinatology unit, the total of 154 neonates was proven to have neonatal sepsis with positive blood culture with the incidence rate 24.6%. Seventy-nine (51.3%) neonates were diagnosed with early onset sepsis while 75 (48,7%) neonates had late-onset sepsis. Klebsiella pneumonia was the most commonly isolated organism in both early and late onset sepsis, encompassing 19.5% of cases. Periodic surveillance of the causative agents of neonatal sepsis is needed to implement the rational, empirical choice of antibiotic prescription while waiting for blood culture result to come out.

Late-onset ornithine transcarbamylase deficiency: An under recognized cause of metabolic encephalopathy

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Rush, Eric T; Hartmann, Julianne E; Skrabal, Jill C; Rizzo, William B

2014-01-01

Introduction: Ornithine transcarbamylase deficiency is the most common inherited disorder of the urea cycle, has a variable phenotype, and is caused by mutations in the OTC gene. We report three cases of ornithine transcarbamylase deficiency to illustrate the late-onset presentation of this disorder and provide strategies for diagnosis and treatment. The patients were maternal first cousins, presenting with hyperammonemia and obtundation. Urea cycle disorder was not initially suspected in the...

Cerebrospinal Fluid Aβ43 Is Reduced in Early-Onset Compared to Late-Onset Alzheimer’s Disease, But Has Similar Diagnostic Accuracy to Aβ42

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Camilla Lauridsen

2017-06-01

Full Text Available Background: Amyloid beta 1–43 (Aβ43 may be a useful additional biomarker for diagnosing Alzheimer’s disease (AD. We have investigated cerebrospinal fluid (CSF levels of Aβ43 in patients with early-onset AD in contrast to levels in late-onset AD. For comparison, in addition to the ‘core’ biomarkers, several other analytes were also determined [YKL-40, neurofilament light (NF-L, glial fibrillary acidic protein (GFAP, and progranulin].Material and Methods: Cerebrospinal fluid samples were obtained from patients with early-onset AD (age ≤ 62, n = 66, late-onset AD (age ≥ 68, n = 25, and groups of cognitively intact individuals (age ≤ 62, n = 41, age ≥ 68, n = 39. Core CSF AD biomarkers [amyloid beta 1–42 (Aβ42, total tau, phosphorylated tau] were analyzed, as well as levels of Aβ43 and other analytes, using commercially available enzyme-linked immunosorbent assays.Results: Cerebrospinal fluid Aβ43 was significantly reduced in early-onset AD compared to late-onset AD (14.8 ± 7.3 vs. 21.8 ± 9.4 pg/ml, respectively, whereas the levels of Aβ42 in the two AD groups were not significantly different (474.9 ± 142.0 vs. 539.6 ± 159.9 pg/ml, respectively. Aβ43 and all core biomarkers were significantly altered in patients with AD compared to corresponding controls. NF-L was significantly increased in early-onset AD compared to younger controls, an effect not found between the older groups. Relationships between the Aβ peptides and tau proteins, YKL-40, NF-L, GFAP and progranulin were also investigated without finding marked associations. However, age-associated increases in levels of tau proteins, YKL-40, NF-L and GFAP were found with respect to age in healthy controls. Results for these other analytes were similar to previously published data. Aβ43 did not improve diagnostic accuracy in either AD group compared to Aβ42. Discussion: Cerebrospinal fluid Aβ43, but not Aβ42 levels, varied significantly with age in patients with

Rare variants analysis of cutaneous malignant melanoma genes in Parkinson's disease.

Science.gov (United States)

Lubbe, S J; Escott-Price, V; Brice, A; Gasser, T; Pittman, A M; Bras, J; Hardy, J; Heutink, P; Wood, N M; Singleton, A B; Grosset, D G; Carroll, C B; Law, M H; Demenais, F; Iles, M M; Bishop, D T; Newton-Bishop, J; Williams, N M; Morris, H R

2016-12-01

A shared genetic susceptibility between cutaneous malignant melanoma (CMM) and Parkinson's disease (PD) has been suggested. We investigated this by assessing the contribution of rare variants in genes involved in CMM to PD risk. We studied rare variation across 29 CMM risk genes using high-quality genotype data in 6875 PD cases and 6065 controls and sought to replicate findings using whole-exome sequencing data from a second independent cohort totaling 1255 PD cases and 473 controls. No statistically significant enrichment of rare variants across all genes, per gene, or for any individual variant was detected in either cohort. There were nonsignificant trends toward different carrier frequencies between PD cases and controls, under different inheritance models, in the following CMM risk genes: BAP1, DCC, ERBB4, KIT, MAPK2, MITF, PTEN, and TP53. The very rare TYR p.V275F variant, which is a pathogenic allele for recessive albinism, was more common in PD cases than controls in 3 independent cohorts. Tyrosinase, encoded by TYR, is the rate-limiting enzyme for the production of neuromelanin, and has a role in the production of dopamine. These results suggest a possible role for another gene in the dopamine-biosynthetic pathway in susceptibility to neurodegenerative Parkinsonism, but further studies in larger PD cohorts are needed to accurately determine the role of these genes/variants in disease pathogenesis. Copyright © 2016 The Author(s). Published by Elsevier Inc. All rights reserved.

Expression of MicroRNA-146a and MicroRNA-155 in Placental Villi in Early- and Late-Onset Preeclampsia.

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Nizyaeva, N V; Kulikova, G V; Nagovitsyna, M N; Kan, N E; Prozorovskaya, K N; Shchegolev, A I; Sukhikh, G T

2017-07-01

We studied the expression of microRNA-146a and microRNA-155 in placental villi from 18 women (26-39 weeks of gestation) of reproductive age with early- or late-onset preeclampsia. The reference group consisted of women with physiological pregnancy and full-term gestation and with preterm birth after caesarian section on gestation week 26-31. MicroRNA-146a and microRNA-155 were detected by in situ hybridization with digoxigenin on paraffin sections. It was found that the expression of microRNA-146a in both syncytiotrophoblast of the intermediate villi and syncytial knots was lower at late-onset preeclampsia than at physiologic pregnancy of full-term period (p=0.037 and p=0.001 respectively). The expression of microRNA-155 in syncytiotrophoblast of intermediate placental villi in early-onset preeclampsia was higher than in group with preterm delivery (p=0.003). However, in syncytiotrophoblast of intermediate villi and in syncytial knots, the expression of microRNA-155 was lower at late-onset preeclampsia in comparison with full-term physiological pregnancy (p=0.005). In addition, the expression of microRNA-146a and microRNA-155 did not increase in the later terms in preeclampsia, while in the reference groups demonstrating gradual increase in the expression of these markers with increasing gestational age. Expression microRNA-146a and microRNA-155 little differed in early- and late-onset preeclampsia. These findings suggest that different variants of preeclampsia are probably characterized by common pathogenetic pathways. Damaged trophoblast cannot maintain of microRNAs synthesis at the required level, which determines the formation of a vicious circle in preeclampsia and further progression of the disease.

Characteristics of late-onset epilepsy and EEG findings in children with autism spectrum disorders

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Haneul Lee

2011-01-01

Full Text Available Purpose: To investigate the clinical characteristics of late-onset epilepsy combined with autism spectrum disorder (ASD, and the relationship between certain types of electroencephalography (EEG abnormalities in ASD and associated neuropsychological problems. Methods: Thirty patients diagnosed with ASD in early childhood and later developed clinical seizures were reviewed retrospectively. First, the clinical characteristics, language and behavioral regression, and EEG findings of these late-onset epilepsy patients with ASD were investigated. The patients were then classified into 2 groups according to the severity of the EEG abnormalities in the background rhythm and paroxysmal discharges. In the severe group, EEG showed persistent asymmetry, slow and disorganized background rhythms, and continuous sharp and slow waves during slow sleep (CSWS. Results: Between the two groups, there was no statistically significant difference in mean age (P=0.259, age of epilepsy diagnosis (P=0.237, associated family history (P=0.074, and positive abnormal magnetic resonance image (MRI findings (P=0.084. The severe EEG group tended to have more neuropsychological problems (P=0.074. The severe group statistically showed more electrographic seizures in EEG (P =0.000. Rett syndrome was correlated with more severe EEG abnormalities (P=0.002. Although formal cognitive function tests were not performed, the parents reported an improvement in neuropsychological function on the follow up checkup according to a parent’s questionnaire. Conclusion: Although some ASD patients with late-onset epilepsy showed severe EEG abnormalities, including CSWS, they generally showed an improvement in EEG and clinical symptoms in the longterm follow up. In addition, severe EEG abnormalities tended to be related to the neuropsychological function.

Incidence, aetiology and resistance of late-onset neonatal sepsis: a five-year prospective study.

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Hammoud, Majeda S; Al-Taiar, Abdullah; Thalib, Lukman; Al-Sweih, Noura; Pathan, Seema; Isaacs, David

2012-07-01

Investigate the incidence, etiological pattern and the antimicrobial resistance of late-onset neonatal infections over a period of 5 years. Longitudinal audit of neonatal sepsis from January 2005 to December 2009, in the main maternity hospital in Kuwait. Late-onset neonatal infection was defined as the culture of a single potentially pathogenic organism from blood or cerebrospinal fluid from an infant older than 6 days in association with clinical or laboratory findings consistent with infection. The overall incidence was 16.9 (95% confidence interval: 15.8-18.0) episodes per 1000 live births. The commonest pathogen was coagulase-negative Staphylococcus, 339 (35.7%), while Klebsiella was the most common gram-negative infection, 178 (18.8%). Escherichia coli, Enterococcus and Enterobacter spp were each responsible for 6% of all infections. Candida caused 104 (11.0%) infections. The general pattern of infection remained unchanged over the study period. Case fatality was 11.7% (95% confidence interval: 9.7-13.9%) and was high for Pseudomonas (18.4%) and Candida (22.1%) infections. Approximately 24 and 20% of Klebsiella infections were resistant to cefotaxime and gentamicin, respectively, while 28 and 24% of Escherichia coli infections were resistant to cefotaxime and gentamicin, respectively. The incidence of late-onset infection in Kuwait is high, resembling that in resource-poor countries. The high incidence coupled with low case fatality provides an example for settings where tertiary care is introduced without strict measures against nosocomial infections. Prevention against nosocomial infections in neonatal units has the potential to further reduce neonatal mortality in these settings. © 2012 The Authors. Journal of Paediatrics and Child Health © 2012 Paediatrics and Child Health Division (Royal Australasian College of Physicians).

Tandem mass spectrometry, but not T-cell receptor excision circle analysis, identifies newborns with late-onset adenosine deaminase deficiency.

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la Marca, Giancarlo; Canessa, Clementina; Giocaliere, Elisa; Romano, Francesca; Duse, Marzia; Malvagia, Sabrina; Lippi, Francesca; Funghini, Silvia; Bianchi, Leila; Della Bona, Maria Luisa; Valleriani, Claudia; Ombrone, Daniela; Moriondo, Maria; Villanelli, Fabio; Speckmann, Carsten; Adams, Stuart; Gaspar, Bobby H; Hershfield, Michael; Santisteban, Ines; Fairbanks, Lynette; Ragusa, Giovanni; Resti, Massimo; de Martino, Maurizio; Guerrini, Renzo; Azzari, Chiara

2013-06-01

Adenosine deaminase (ADA)-severe combined immunodeficiency (SCID) is caused by genetic variants that disrupt the function of ADA. In its early-onset form, it is rapidly fatal to infants. Delayed or late-onset ADA-SCID is characterized by insidious progressive immunodeficiency that leads to permanent organ damage or death. Quantification of T-cell receptor excision circles (TRECs) or tandem mass spectrometry (tandem-MS) analysis of dried blood spots (DBSs) collected at birth can identify newborns with early-onset ADA-SCID and are used in screening programs. However, it is not clear whether these analyses can identify newborns who will have delayed or late-onset ADA-SCID before symptoms appear. We performed a retrospective study to evaluate whether tandem-MS and quantitative TREC analyses of DBSs could identify newborns who had delayed-onset ADA-SCID later in life. We tested stored DBSs collected at birth from 3 patients with delayed-onset ADA-SCID using tandem-MS (PCT EP2010/070517) to evaluate levels of adenosine and 2'-deoxyadenosine and real-time PCR to quantify TREC levels. We also analyzed DBSs from 3 newborns with early-onset ADA-SCID and 2 healthy newborn carriers of ADA deficiency. The DBSs taken at birth from the 3 patients with delayed-onset ADA-SCID had adenosine levels of 10, 25, and 19 μmol/L (normal value, <1.5 μmol/L) and 2'-deoxyadenosine levels of 0.7, 2.7, and 2.4 μmol/L (normal value, <0.07 μmol/L); the mean levels of adenosine and 2'-deoxyadenosine were respectively 12.0- and 27.6-fold higher than normal values. DBSs taken at birth from all 3 patients with delayed-onset ADA deficiency had normal TREC levels, but TRECs were undetectable in blood samples taken from the same patients at the time of diagnosis. Tandem-MS but not TREC quantification identifies newborns with delayed- or late-onset ADA deficiency. Copyright © 2013 American Academy of Allergy, Asthma & Immunology. Published by Mosby, Inc. All rights reserved.

Early- and late-onset Alzheimer disease: Are they the same entity?

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Tellechea, P; Pujol, N; Esteve-Belloch, P; Echeveste, B; García-Eulate, M R; Arbizu, J; Riverol, M

2018-05-01

Early-onset Alzheimer disease (EOAD), which presents in patients younger than 65 years, has frequently been described as having different features from those of late-onset Alzheimer disease (LOAD). This review analyses the most recent studies comparing the clinical presentation and neuropsychological, neuropathological, genetic, and neuroimaging findings of both types in order to determine whether EOAD and LOAD are different entities or distinct forms of the same entity. We observed consistent differences between clinical findings in EOAD and in LOAD. Fundamentally, the onset of EOAD is more likely to be marked by atypical symptoms, and cognitive assessments point to poorer executive and visuospatial functioning and praxis with less marked memory impairment. Alzheimer-type features will be more dense and widespread in neuropathology studies, with structural and functional neuroimaging showing greater and more diffuse atrophy extending to neocortical areas (especially the precuneus). In conclusion, available evidence suggests that EOAD and LOAD are 2 different forms of a single entity. LOAD is likely to be influenced by ageing-related processes. Copyright © 2015 Sociedad Española de Neurología. Publicado por Elsevier España, S.L.U. All rights reserved.

Diagnostic confusion resulting from CD56 expression by cutaneous myeloid sarcoma

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Sheeja T. Pullarkat

2009-12-01

Full Text Available Myeloid sarcomas are tumor masses composed of aggregates of malignant myeloid precursors in extramedullary sites including the skin. We report a case of myeloid sarcoma in a patient who presented with an ear lobe mass and facial nerve paralysis. Expression of CD56 by the malignant cells led to an initial misdiagnosis as Merkel cell tumor. Comprehensive pathological evaluation confirmed the diagnosis of myeloid sarcoma with aberrant expression of CD56 and carrying the translocation t(8;21 (q22;q22. Aberrant antigen expression by cutaneous myeloid sarcomas can cause diagnostic confusion with other cutaneous neoplasms. This is especially relevant when myeloid sarcoma is the sole manifestation of acute myeloid leukemia.

Cutaneous mucormycosis in advanced HIV disease

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José Moreira

2016-11-01

Full Text Available Angionvasive mucormycosis is an emerging fungal disease known to affect mainly diabetics or subjects with profound neutropenia. Infection usually occurs through the inhalation route, but cutaneous inoculation may occur after trauma or burns. However, mucormycosis remains unusual in HIV infection. We report a fatal case of cutaneous mucormycosis due to Rhizopus arrhizus involving the scalp following herpes zoster infection. The patient was a 42-year-old man with advanced AIDS failing on salvage antiretroviral therapy. The fungus was diagnosed on the basis of histopathology and culture. Our case emphasizes the need to consider mucormycosis in the differential diagnosis of necrotic cutaneous lesions in patients with late-stage HIV disease.

Long-term results after Boston brace treatment in late-onset juvenile and adolescent idiopathic scoliosis

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Gunderson Ragnhild

2011-08-01

Full Text Available Abstract Background It is recommended that research in patients with idiopathic scoliosis should focus on short- and long-term patient-centred outcome. The aim of the present study was to evaluate outcome in patients with late-onset juvenile or adolescent idiopathic scoliosis 16 years or more after Boston brace treatment. Methods 272 (78% of 360 patients, 251 (92% women, responded to follow-up examination at a mean of 24.7 (range 16 - 32 years after Boston brace treatment. Fifty-eight (21% patients had late-onset juvenile and 214 had adolescent idiopathic scoliosis. All patients had clinical and radiological examination and answered a standardised questionnaire including work status, demographics, General Function Score (GFS (100 - worst possible and Oswestry Disability Index (ODI (100 - worst possible, EuroQol (EQ-5D (1 - best possible, EQ-VAS (100 - best possible, and Scoliosis Research Society - 22 (SRS - 22 (5 - best possible. Results The mean age at follow-up was 40.4 (31-48 years. The prebrace major curve was in average 33.2 (20 - 57°. At weaning and at the last follow-up the corresponding values were 28.3 (1 - 58° and 32.5 (7 - 80°, respectively. Curve development was similar in patients with late-onset juvenile and adolescent start. The prebrace curve increased > 5° in 31% and decreased > 5° in 26%. Twenty-five patients had surgery. Those who did not attend follow-up (n = 88 had a lower mean curve at weaning: 25.4 (6-53°. Work status was 76% full-time and 10% part-time. Eighty-seven percent had delivered a baby, 50% had pain in pregnancy. The mean (SD GFS was 7.4 (10.8, ODI 9.3 (11.0, EQ-5D 0.82 (0.2, EQ-VAS 77.6 (17.8, SRS-22: pain 4.1 (0.8, mental health 4.1 (0.6, self-image 3.7 (0.7, function 4.0 (0.6, satisfaction with treatment 3.7 (1.0. Surgical patients had significantly reduced scores for SRS-physical function and self-image, and patients with curves ≥ 45° had reduced self-image. Conclusion Long-term results were

Association between the CCR5 32-bp deletion allele and late onset of schizophrenia

DEFF Research Database (Denmark)

Rasmussen, Henrik Berg; Timm, Sally; Wang, August G

2006-01-01

OBJECTIVE: The 32-bp deletion allele in chemokine receptor CCR5 has been associated with several immune-mediated diseases and might be implicated in schizophrenia as well. METHOD: The authors genotyped DNA samples from 268 schizophrenia patients and 323 healthy subjects. Age at first admission...... of the deletion allele in the latter subgroup of patients. CONCLUSIONS: These findings suggest that the CCR5 32-bp deletion allele is a susceptibility factor for schizophrenia with late onset. Alternatively, the CCR5 32-bp deletion allele may act as a modifier by delaying the onset of schizophrenia without...

Maternal History and Uterine Artery Doppler in the Assessment of Risk for Development of Early- and Late-Onset Preeclampsia and Intrauterine Growth Restriction

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Elisa Llurba

2009-01-01

Full Text Available Objective. To examine the value of one-step uterine artery Doppler at 20 weeks of gestation in the prediction pre-eclampsia (PE and/or intrauterine growth restriction (IUGR. Methods. A prospective multicentre study that included all women with singleton pregnancies at 19–22 weeks of gestation (w. The mean pulsatility index (mPI of both uterine arteries was calculated. Receiver-operating characteristics curves (ROC were drawn to compare uterine artery Doppler and maternal risk factors for the prediction of early-onset PE and/or IUGR (before 32 w and late-onset PE and/or IUGR. Results. 6,586 women were included in the study. Complete outcome data was recorded for 6,035 of these women (91.6%. PE developed in 75 (1.2% and IUGR in 69 (1.1% cases. Uterine Doppler mPI was 0.99 and the 90th centile was 1.40. For 10% false-positive rate, uterine Doppler mPI identified 70.6% of pregnancies that subsequently developed early-onset PE and 73.3% of pregnancies that developed early-onset IUGR. The test had a lower detection rate for the late-onset forms of the disease (23.5% for PE and 30% for IUGR. Maternal history has a low sensitivity in the detection of early-onset cases, although it is better at detecting late-onset PE. Conclusion. Uterine artery Doppler and maternal risk factors seem to select two different populations - early and late-onset PE which might suggest a different pathogenesis.

Carcinoma Buccal Mucosa Underlying a Giant Cutaneous Horn: A Case Report and Review of the Literature

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Sunil Kumar

2014-01-01

Full Text Available Cutaneous horn is a conical, dense, and hyperkeratotic protrusion that often appears similar to the horn of an animal. Giant cutaneous horns are rare; no incidence or prevalence has been reported. The significance of cutaneous horns is that they occur in association with, or as a response to, a wide variety of underlying benign, premalignant, and malignant cutaneous diseases. A case of giant cutaneous horn of left oral commissure along with carcinoma left buccal mucosa is reported here as an extremely rare oral/perioral pathology.

Gene expression profiling reveals different molecular patterns in G-protein coupled receptor signaling pathways between early- and late-onset preeclampsia.

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Liang, Mengmeng; Niu, Jianmin; Zhang, Liang; Deng, Hua; Ma, Jian; Zhou, Weiping; Duan, Dongmei; Zhou, Yuheng; Xu, Huikun; Chen, Longding

2016-04-01

Early-onset preeclampsia and late-onset preeclampsia have been regarded as two different phenotypes with heterogeneous manifestations; To gain insights into the pathogenesis of the two traits, we analyzed the gene expression profiles in preeclamptic placentas. A whole genome-wide microarray was used to determine the gene expression profiles in placental tissues from patients with early-onset (n = 7; 36 weeks) preeclampsia and their controls who delivered preterm (n = 5; 36 weeks). Genes were termed differentially expressed if they showed a fold-change ≥ 2 and q-value preeclampsia (177 genes were up-regulated and 450 were down-regulated). Gene ontology analysis identified significant alterations in several biological processes; the top two were immune response and cell surface receptor linked signal transduction. Among the cell surface receptor linked signal transduction-related, differentially expressed genes, those involved in the G-protein coupled receptor protein signaling pathway were significantly enriched. G-protein coupled receptor signaling pathway related genes, such as GPR124 and MRGPRF, were both found to be down-regulated in early-onset preeclampsia. The results were consistent with those of western blotting that the abundance of GPR124 was lower in early-onset compared with late-onset preeclampsia. The different gene expression profiles reflect the different levels of transcription regulation between the two conditions and supported the hypothesis that they are separate disease entities. Moreover, the G-protein coupled receptor signaling pathway related genes may contribute to the mechanism underlying early- and late-onset preeclampsia. Copyright © 2016 Elsevier Ltd. All rights reserved.

Cutaneous leiomyosarcoma arising in a smallpox scar

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Pol, Robert A.; Dannenberg, Hilde; Robertus, Jan-Lukas; van Ginkel, Robert J.

2012-01-01

Background: Cutaneous leiomyosarcoma (CLM) is a very rare smooth muscle tumour that accounts for about 2-3% of all superficial soft tissue sarcomas. Although the development of various malignancies in scar tissue is well known, we report the first case of a CLM developing in a small pox scar. Case

A Historical Cohort Study on the Efficacy of Glucocorticoids and Riboflavin Among Patients with Late-onset Multiple Acyl-CoA Dehydrogenase Deficiency

Institute of Scientific and Technical Information of China (English)

Xin-Yi Liu; Zhi-Qiang Wang; Dan-Ni Wang; Min-Ting Lin; Ning Wang

2016-01-01

Background:Late-onset multiple acyl-CoA dehydrogenase deficiency (MADD) is the most common type of lipid storage myopathies in China.Most patients with late-onset MADD are well responsive to riboflavin.Up to now,these patients are often treated with glucocorticoids as the first-line drug because they are misdiagnosed as polymyositis without muscle biopsy or gene analysis.Although glucocorticoids seem to improve the fatty acid metabolism of late-onset MADD,the objective evaluation of their rationalization on this disorder and comparison with riboflavin treatment are unknown.Methods:We performed a historical cohort study on the efficacy of the two drugs among 45 patients with late-onset MADD,who were divided into glucocorticoids group and riboflavin group.Detailed clinical information of baseline and 1-month follow-up were collected.Results:After 1-month treatment,a dramatic improvement of muscle strength was found in riboflavin group (P ＜ 0.05).There was no significant difference in muscle enzymes between the two groups.Significantly,the number of patients with full recovery in glucocorticoids group was less than the number in riboflavin group (P ＜ 0.05).On the other hand,almost half of the patients in riboflavin group still presented high-level muscle enzymes and weak muscle strength after 1-month riboflavin treatment,meaning that 1-month treatment duration maybe insufficient and patients should keep on riboflavin supplement for a longer time.Conclusions:Our results provide credible evidences that the overall efficacy of riboflavin is superior to glucocorticoids,and a longer duration of riboflavin treatment is necessary for patients with late-onset MADD.

Clinical characteristics of late-onset neuromyelitis optica spectrum disorder: A multicenter retrospective study in Korea.

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Seok, Jin Myoung; Cho, Hye-Jin; Ahn, Suk-Won; Cho, Eun Bin; Park, Min Su; Joo, In-Soo; Shin, Ha Young; Kim, Sun-Young; Kim, Byung-Jo; Kim, Jong Kuk; Cho, Joong-Yang; Huh, So-Young; Kwon, Ohyun; Lee, Kwang-Ho; Kim, Byoung Joon; Min, Ju-Hong

2017-11-01

There are currently few studies regarding late-onset neuromyelitis optica spectrum disorder (LO-NMOSD). We aimed to describe the characteristic features of patients with LO-NMOSD in Korea. Anti-aquaporin-4 antibody-positive patients with neuromyelitis optica spectrum disorder (NMOSD) from nine tertiary hospitals were reviewed retrospectively. The patients were divided into two groups based on age of onset: LO-NMOSD (⩾50 years of age at onset) versus early-onset neuromyelitis optica spectrum disorder (EO-NMOSD) (<50 years of age at onset). Clinical, laboratory, and magnetic resonance imaging (MRI) parameters were investigated. Among a total of 147 patients (125 female; age of onset, 39.4 ± 15.2 years), 45 patients (30.6%) had an age of onset of more than 50 years. Compared to patients with EO-NMOSD, patients with LO-NMOSD had more frequent isolated spinal cord involvement at onset (64.4% vs 37.2%, p = 0.002), less frequent involvement of the optic nerve (40.0% vs 67.7%, p = 0.002), and less frequent brain MRI lesions (31.1% vs 50.0%, p = 0.034). Furthermore, there was a significant positive correlation between age of onset and Expanded Disability Status Scale (EDSS) score at last follow-up ( r = 0.246, p = 0.003). Age of onset could be an important predictor of lesion location and clinical course of patients with NMOSD.

Neuroimaging characteristics of very-late-onset schizophrenia-like psychosis

International Nuclear Information System (INIS)

Okuyama, Yu; Suzuki, Mitsuru; Okudera, Toshio; Matoh, Koichi

2006-01-01

The pathogenesis of delusion and hallucination among the elderly remains unclear. Biological markers have become required for proper diagnosis of the mental state. We aimed to identify the area and severity of both white and gray matter changes of very-late-onset schizophrenia-like psychosis (VLOSLP) by means of magnetic resonance images. Twenty-one non-demented patients who were International Statistical Classification of Disease (ICD)-10 diagnosed as schizophrenia or delusional disorder with onset after the age of 60, and those of 21 age- and gender-matched psychiatrically healthy controls were compared. Although both periventricular hyperintensites and deep and subcortical white matter hyperintensities were found both in the VLOSLP subjects and in the controls, significant difference of the white matter changes were not detected between them, except for more prominent lacuna infarctions and perivascular space at mainly bilateral frontal areas in the subjects. Regarding cortical lesions, the subjects had a significantly greater degree of bilateral frontal and temporal cortical atrophies than the controls. These structural changes suggest neuronal and vascular pathogenesis of VLOSLP. Front-temporal cortical atrophy and age-related white matter changes may be a predictive finding of VLOSLP; however, prospective and long-term follow-up neuroimaging studies are essential to integrate etiological diagnostics of VLOSLP. (author)

Primary cutaneous smoldering adult T-cell leukemia/ lymphoma.

Science.gov (United States)

Gittler, Julia; Martires, Kathryn; Terushkin, Vitaly; Brinster, Nooshin; Ramsay, David

2016-12-15

HTLV-1 is a virus that is endemic in southwesternJapan and the Caribbean and has been implicatedin the development of ATLL. ATLL, which is anuncommon malignant condition of peripheralT-lymphocytes, is characterized by four clinicalsubtypes, which include acute, lymphomatous,chronic, and smoldering types, that are based onLDH levels, calcium levels, and extent of organinvolvement. We present a 52-year- old woman withpruritic patches with scale on the buttocks and withtender, hyperpigmented macules and papules oftwo-years duration. Histopathologic examinationwas suggestive of mycosis fungoides, laboratoryresults showed HTLV-I and II, and the patient wasdiagnosed with primary cutaneous ATLL. We reviewthe literature on HTLV-1 and ATLL and specifically theprognosis of cutaneous ATLL. The literature suggeststhat a diagnosis of ATLL should be considered amongpatients of Caribbean origin or other endemicareas with skin lesions that suggest a cutaneousT-cell lymphoma, with clinicopathologic features ofmycosis fungoides. Differentiation between ATLLand cutaneous T-cell lymphoma is imperative as theyhave different prognoses and treatment approaches.

Cutaneous mucormycosis in advanced HIV disease.

Science.gov (United States)

Moreira, José; Ridolfi, Felipe; Almeida-Paes, Rodrigo; Varon, Andrea; Lamas, Cristiane C

Angionvasive mucormycosis is an emerging fungal disease known to affect mainly diabetics or subjects with profound neutropenia. Infection usually occurs through the inhalation route, but cutaneous inoculation may occur after trauma or burns. However, mucormycosis remains unusual in HIV infection. We report a fatal case of cutaneous mucormycosis due to Rhizopus arrhizus involving the scalp following herpes zoster infection. The patient was a 42-year-old man with advanced AIDS failing on salvage antiretroviral therapy. The fungus was diagnosed on the basis of histopathology and culture. Our case emphasizes the need to consider mucormycosis in the differential diagnosis of necrotic cutaneous lesions in patients with late-stage HIV disease. Copyright © 2016 Sociedade Brasileira de Infectologia. Published by Elsevier Editora Ltda. All rights reserved.

Primary cutaneous anaplastic large-cell lymphoma.

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Perry, Edward; Karajgikar, Jay; Tabbara, Imad A

2013-10-01

Since the recognition of the anaplastic large-cell lymphomas in the 1980s, much has been learned about the diagnosis, clinical presentation, and treatment of these malignant conditions. The systemic and primary cutaneous types of anaplastic large cell lymphomas have been differentiated on clinical and immunophenotypical findings, but further research is required to elucidate their exact etiologies and pathogeneses. Primary cutaneous anaplastic large-cell lymphoma has a 95% disease-specific 5-year survival, owing partly to the relatively benign course of the disease and partly to the variety of effective treatments that are available. As with many other oncological diseases, new drugs are continually being tested and developed, with immunotherapy and biological response modifiers showing promise.

Association between late-onset depression and incident dementia in Chinese older persons.

Science.gov (United States)

Tam, C W C; Lam, L C W

2013-12-01

OBJECTIVE. Previous studies have shown that depression is a precursor / prodrome or susceptible state for the development of dementia. This study aimed to examine the relationship between late-onset depression and subsequent cognitive and functional decline in a cohort of non-demented older Chinese persons at their 2-year follow-up and investigate for possible predictors of cognitive decline. METHODS. A total of 81 depressed subjects and 468 non-depressed community controls were recruited. RESULTS. Subjects with late-onset depression showed significantly more incident Clinical Dementia Rating (CDR) scale decline (odds ratio = 3.87, 95% confidence interval = 2.23-6.70) and dementia (odds ratio = 3.44, 95% confidence interval = 1.75-6.77) than those without depression. A higher proportion of depressed CDR 0 subjects had CDR and functional decline than their non-depressed counterparts. Depressed CDR 0.5 subjects had significantly higher rates of functional decline and lower rates of improvement in CDR than their non-depressed counterparts. CONCLUSION. Diagnosis of depression was a robust predictor of incident very mild dementia (i.e. CDR of 0.5) and depression severity was a predictor of progression to dementia from CDR of 0.5. The association between depression and the risk of CDR decline and dementia was observed in non-demented Chinese subjects. Depression was also associated with persistent mild cognitive deficits in CDR 0.5 subjects.

Mechanism of interrupted saccades in patients with late-onset Tay-Sachs disease.

Science.gov (United States)

Optican, Lance M; Rucker, Janet C; Keller, Edward L; Leigh, R John

2008-01-01

In late-onset Tay-Sachs disease (LOTS), saccades are interrupted by one or more transient decelerations. Some saccades reaccelerate and continue on before eye velocity reaches zero, even in darkness. Intervals between successive decelerations are not regularly spaced. Peak decelerations of horizontal and vertical components of oblique saccades in LOTS is more synchronous than those in control subjects. We hypothesize that these decelerations are caused by dysregulation of the fastigial nuclei (FN) of the cerebellum, which fire brain stem inhibitory burst neurons (IBNs).

Late-onset Stargardt disease is associated with missense mutations that map outside known functional regions of ABCR (ABCA4).

Science.gov (United States)

Yatsenko, A N; Shroyer, N F; Lewis, R A; Lupski, J R

2001-04-01

Based on recent studies of the photoreceptor-specific ABC transporter gene ABCR (ABCA4) in Stargardt disease (STGD1) and other retinal dystrophies, we and others have developed a model in which the severity of retinal disease correlates inversely with residual ABCR activity. This model predicts that patients with late-onset STGDI may retain partial ABCR activity attributable to mild missense alleles. To test this hypothesis, we used late-onset STGDI patients (onset: > or =35 years) to provide an in vivo functional analysis of various combinations of mutant alleles. We sequenced directly the entire coding region of ABCR and detected mutations in 33/50 (66%) disease chromosomes, but surprisingly, 11/33 (33%) were truncating alleles. Importantly, all 22 missense mutations were located outside the known functional domains of ABCR (ATP-binding or transmembrane), whereas in our general cohort of STGDI subjects, alterations occurred with equal frequency across the entire protein. We suggest that these missense mutations in regions of unknown function are milder alleles and more susceptible to modifier effects. Thus, we have corroborated a prediction from the model of ABCR pathogenicity that (1) one mutant ABCR allele is always missense in late-onset STGD1 patients, and (2) the age-of-onset is correlated with the amount of ABCR activity of this allele. In addition, we report three new pseudodominant families that now comprise eight of 178 outbred STGD1 families and suggest a carrier frequency of STGD1-associated ABCR mutations of about 4.5% (approximately 1/22).

To treat or not to treat with testosterone replacement therapy: a contemporary review of management of late-onset hypogonadism and critical issues related to prostate cancer.

Science.gov (United States)

Kava, Bruce R

2014-07-01

Over the last 10 years there has been a dramatic increase in the number of patients identified and treated with testosterone replacement therapy (TRT) for late-onset hypogonadism (LOH). By virtue of age, race, and family history, many of these patients are concurrently at risk for harboring indolent prostate cancer. Other men are at increased risk for prostate cancer as a result of an elevated serum PSA level or having had a prior prostate biopsy showing prostatic intraepithelial neoplasia (PIN) or atypical small acinar proliferation (ASAP). The clinician is often challenged with the decision whether to initiate TRT in these patients. This review presents a contemporary overview of the rationale for TRT, as well as the relationship between testosterone (endogenous and exogenous) and premalignant and malignant lesions of the prostate. We will discuss preliminary data from several recent series demonstrating that TRT may be safely administered in select patients with certain premalignant and bona fide malignant tumors of the prostate. In the absence of a large randomized clinical trial with long-term outcome data evaluating TRT, we hope that this overview will provide clinicians with an evidence-based approach to managing these anxiety-provoking - and often frustrating - clinical scenarios.

Glycogen Reduction in Myotubes of Late-Onset Pompe Disease Patients Using Antisense Technology.

Science.gov (United States)

Goina, Elisa; Peruzzo, Paolo; Bembi, Bruno; Dardis, Andrea; Buratti, Emanuele

2017-09-06

Glycogen storage disease type II (GSDII) is a lysosomal disorder caused by the deficient activity of acid alpha-glucosidase (GAA) enzyme, leading to the accumulation of glycogen within the lysosomes. The disease has been classified in infantile and late-onset forms. Most late-onset patients share a splicing mutation c.-32-13T > G in intron 1 of the GAA gene that prevents efficient recognition of exon 2 by the spliceosome. In this study, we have mapped the splicing silencers of GAA exon 2 and developed antisense morpholino oligonucleotides (AMOs) to inhibit those regions and rescue normal splicing in the presence of the c.-32-13T > G mutation. Using a minigene approach and patient fibroblasts, we successfully increased inclusion of exon 2 in the mRNA and GAA enzyme production by targeting a specific silencer with a combination of AMOs. Most importantly, the use of these AMOs in patient myotubes results in a decreased accumulation of glycogen. To our knowledge, this is the only therapeutic approach resulting in a decrease of glycogen accumulation in patient tissues beside enzyme replacement therapy (ERT) and TFEB overexpression. As a result, it may represent a highly novel and promising therapeutic line for GSDII. Copyright © 2017 The Author(s). Published by Elsevier Inc. All rights reserved.

Malignant chondroid syringoma of the pinna

International Nuclear Information System (INIS)

Krishnamurthy, Arvind; Aggarwal, Niharika; Deen, Suhail; Majhi, Urmila; Ramshankar, Vijayalakshmi

2015-01-01

Chondroid syringoma (CS) represents the cutaneous counterpart of mixed tumor (pleomorphic adenoma) of salivary glands. The malignant counterpart of CS, termed as “malignant CS” is a malignant eccrine neoplasm which lacks distinctive clinical features, often delaying initial diagnosis. Unlike its benign counterpart which often localizes in the head and neck region, malignant CS most often encountered in the trunk and the extremities. We report a rare case of an aggressive malignant CS of the left pinna with cervical lymph node metastasis. Our patient, to the best of our knowledge, possibly is the first case of malignant CS of the pinna and the fourth to arise in the head and neck region. The diagnostic challenges with an added emphasis on the role of positron emission tomography-computed tomography in aiding the management of this rare tumor are discussed

Matrix Metalloproteinase-9 (MMP-9 polymorphisms in patients with cutaneous malignant melanoma

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Busam Klaus

2007-03-01

Full Text Available Abstract Background Cutaneous Malignant Melanoma causes over 75% of skin cancer-related deaths, and it is clear that many factors may contribute to the outcome. Matrix Metalloproteinases (MMPs play an important role in the degradation and remodeling of the extracellular matrix and basement membrane that, in turn, modulate cell division, migration and angiogenesis. Some polymorphisms are known to influence gene expression, protein activity, stability, and interactions, and they were shown to be associated with certain tumor phenotypes and cancer risk. Methods We tested seven polymorphisms within the MMP-9 gene in 1002 patients with melanoma in order to evaluate germline genetic variants and their association with progression and known risk factors of melanoma. The polymorphisms were selected based on previously published reports and their known or potential functional relevance using in-silico methods. Germline DNA was then genotyped using pyrosequencing, melting temperature profiles, heteroduplex analysis, and fragment size analysis. Results We found that reference alleles were present in higher frequency in patients who tend to sunburn, have family history of melanoma, higher melanoma stage, intransit metastasis and desmoplastic melanomas among others. However, after adjustment for age, sex, phenotypic index, moles, and freckles only Q279R, P574R and R668Q had significant associations with intransit metastasis, propensity to tan/sunburn and primary melanoma site. Conclusion This study does not provide strong evidence for further investigation into the role of the MMP-9 SNPs in melanoma progression.

An overview of cutaneous T cell lymphomas [version 1; referees: 2 approved

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Nooshin Bagherani

2016-07-01

Full Text Available Cutaneous T cell lymphomas (CTCLs are a heterogeneous group of extranodal non-Hodgkin’s lymphomas that are characterized by a cutaneous infiltration of malignant monoclonal T lymphocytes. They typically afflict adults with a median age of 55 to 60 years, and the annual incidence is about 0.5 per 100,000. Mycosis fungoides, Sézary syndrome, and primary cutaneous peripheral T cell lymphomas not otherwise specified are the most important subtypes of CTCL. CTCL is a complicated concept in terms of etiopathogenesis, diagnosis, therapy, and prognosis. Herein, we summarize advances which have been achieved in these fields.

Circulatory nucleosome levels are significantly increased in early and late-onset preeclampsia.

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Zhong, Xiao Yan; Gebhardt, Stefan; Hillermann, Renate; Tofa, Kashefa Carelse; Holzgreve, Wolfgang; Hahn, Sinuhe

2005-08-01

Elevations in circulatory DNA, as measured by real-time PCR, have been observed in pregnancies with manifest preeclampsia. Recent reports have indicated that circulatory nucleosome levels are elevated in the periphery of cancer patients. We have now examined whether circulatory nucleosome levels are similarly elevated in cases with preeclampsia. Maternal plasma samples were prepared from 17 cases with early onset preeclampsia (34 weeks gestation) with 10 matched normotensive controls. Levels of circulatory nucleosomes were quantified by commercial ELISA (enzyme-linked immunosorbant assay). The level of circulatory nucleosomes was significantly elevated in both study preeclampsia groups, compared to the matched normotensive control group (p = 0.000 and p = 0.001, respectively). Our data suggests that preeclampsia is associated with the elevated presence of circulatory nucleosomes, and that this phenomenon occurs in both early- and late-onset forms of the disorder. Copyright 2005 John Wiley & Sons, Ltd.

Basic consensus document on late-onset hypogonadism.

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Becerra Fernández, Antonio; Enríquez Acosta, Luis

2008-01-01

One of the most important elements in men's live is the ability to engage in normal sexual activity; loss of this activity has always been considered especially important. The relationship between sexual activity, as well as other masculine characteristics, and the testicles has been well known since ancient times and has been related to the slow decrease in testosterone secretion with advanced age. Male hypogonadism is one of the most frequent and under-diagnosed endocrine diseases. Several terms have been proposed to refer to clinical situations caused by the age-related decline in male gonadal function; currently, the most widely accepted term is late-onset hypogonadism (LOH). LOH consists of a clinical and biochemical syndrome associated with advanced age (in men), characterized by typical symptoms and reduced serum testosterone concentrations, which can affect multiple organs and systems and reduce quality of life. This syndrome can be treated and the alterations produced can be reversed. To achieve this, a diagnostic protocol that approaches the multiple factors related to the risks and benefits of treatment is required. Copyright © 2008 Sociedad Española de Endocrinología y Nutrición. Published by Elsevier Espana. All rights reserved.

Health audit survey in the high level natural radiation areas of Kerala coast: prevalence of congenital malformations, late onset diseases and untoward pregnancy outcomes in the study area

International Nuclear Information System (INIS)

Cheriyan, V.D.; Koya, P.K.M.; Jaikrishan, G.; Anil Kumar, V.; Seshadri, M.

2010-01-01

A total population of 2,52,735 was surveyed (1,24,246 males, 1,28,489 females; (sex ratio 1000:1034). congenital malformation was reported among 2951 individuals with a frequency of 1.17%. The percentage of individuals with birth defects ranged from 1% in Oachira to 1.46% in Neendakara. At least one of the late onset diseases were reported in 33,199 (13.14%) individuals. Percentage of individuals with any of the late onset diseases ranged from 10.7% in Panmana to 17.9% in Alappad. The distribution of birth defects is the eight panchayats is similar (both Kruskal Wallis and median test P > .20) whereas the distribution of late onset disease does not appear to be similar in all the panchayats (Kruskal Wallis chi-square with 7 d.f = 32.3, P < .001; median test chi-square with 7 d.f. = 15.1; P= .035). The frequency of late onset diseases among males and females in different age groups suggest that females in the age group of 30-59 report more late onset disease than their male counterparts

Modeling Late-Onset Sporadic Alzheimer’s Disease through BMI1 Deficiency

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Anthony Flamier

2018-05-01

Full Text Available Late-onset sporadic Alzheimer’s disease (AD is the most prevalent form of dementia, but its origin remains poorly understood. The Bmi1/Ring1 protein complex maintains transcriptional repression of developmental genes through histone H2A mono-ubiquitination, and Bmi1 deficiency in mice results in growth retardation, progeria, and neurodegeneration. Here, we demonstrate that BMI1 is silenced in AD brains, but not in those with early-onset familial AD, frontotemporal dementia, or Lewy body dementia. BMI1 expression was also reduced in cortical neurons from AD patient-derived induced pluripotent stem cells but not in neurons overexpressing mutant APP and PSEN1. BMI1 knockout in human post-mitotic neurons resulted in amyloid beta peptide secretion and deposition, p-Tau accumulation, and neurodegeneration. Mechanistically, BMI1 was required to repress microtubule associated protein tau (MAPT transcription and prevent GSK3beta and p53 stabilization, which otherwise resulted in neurodegeneration. Restoration of BMI1 activity through genetic or pharmaceutical approaches could represent a therapeutic strategy against AD.

Ultraviolet-induced formation of micronuclei and sister chromatid exchange in cultured fibroblasts of patients with cutaneous malignant melanoma

International Nuclear Information System (INIS)

Roser, M.; Boehm, A.O.; Oldigs, M.; Weichenthal, M.; Reimers, U.; Schmidt-Preuss, U.; Breitbart, E.W.; Ruediger, H.W.

1989-01-01

Genetically enhanced sensitivity to ultraviolet (UV) radiation may play an important role in the development of cutaneous malignant melanoma (CMM). This was studied in cultured fibroblasts of 26 CMM patients and controls by micronucleus (MN) test and sister chromatid exchange (SCE) after UV irradiation (375 J/m2). Sister chromatid exchange and MN formation were used as parameters to detect the UV-induced genotoxic damage in the individual cell strains. We found that the UV-induced level of MN was significantly increased in CMM patients (p = 0.0005), being most pronounced in the familial cases (p = 0.0001). Ultraviolet-induced SCE was also elevated in CMM patients (p = 0.001), but there was no difference between familial and nonfamilial cases. The present findings indicate that genetic predisposition contributes to the development of CMM in a subset of CMM patients and may be due to an enhanced susceptibility to UV light

Rod Migration Into the Spinal Canal After Posterior Instrumented Fusion Causing Late-Onset Neurological Symptoms.

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Canavese, Federico; Dmitriev, Petru; Deslandes, Jacques; Samba, Antoine; Dimeglio, Alain; Mansour, Mounira; Rousset, Marie; Dubousset, Jean

2017-01-01

Rod migration into the spinal canal after posterior instrumented fusion is a rare complication causing late-onset neurological symptoms. The purpose of the present study is to report a case of a 13-year-old boy with spastic cerebral palsy and related neuromuscular kyphoscoliosis who developed late-onset neurological deterioration secondary to progressive implant migration into the spinal canal over a 5-year period. A decision was made to remove both rods to achieve decompression. Intraoperative findings were consistent with information gained from preoperative imaging. The rods were found to have an intracanal trajectory at T9-T10 for the right rod and T12-L2 for the left rod. The cause of implant migration, with progressive laminar erosion slow enough to generate a solid mass behind, was progressive kyphosis in a skeletally immature patient with neuromuscular compromise. Fixation type, early surgery, and spasticity management contributed significantly to the presenting condition. Mechanical factors and timing of surgery played a decisive role in this particular presentation. Level IV--Case report and review of the literature.

Contribution of Beta-HPV Infection and UV-Damage to Rapid-onset Cutaneous Squamous Cell Carcinoma during BRAF-inhibition Therapy

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Cohen, Daniel N.; Lawson, Steven K.; Shaver, Aaron C.; Du, Liping; Nguyen, Harrison P.; He, Qin; Johnson, Douglas B.; Lumbang, Wilfred A.; Moody, Brent R.; Prescott, James L.; Chandra, Pranil K.; Boyd, Alan S.; Zwerner, Jeffrey P.; Robbins, Jason B.; Tyring, Stephen K.; Rady, Peter L.; Chappell, James D.; Shyr, Yu; Infante, Jeffrey R.; Sosman, Jeffrey A.

2015-01-01

Purpose BRAF-inhibition (BRAFi) therapy for advanced melanoma carries a high rate of secondary cutaneous squamous cell carcinoma (cSCC) and risk of other cancers. Ultraviolet (UV) radiation and α-genus human papillomavirus (HPV) are highly associated with SCC, but a novel role for β-genus HPV is suspected in BRAFi-cSCC. Cutaneous β-HPV may act in concert with host and environmental factors in BRAFi-cSCC. Experimental Design Primary BRAFi-cSCC tissue DNA isolated from patients receiving vemurafenib (Vem) or dabrafenib from two cancer centers was analyzed for the presence of cutaneous oncogenic viruses and host genetic mutations. Diagnostic specimens underwent consensus dermatopathology review. Clinical parameters for UV exposure and disease course were statistically analyzed in conjunction with histopathology. Results Twenty-nine patients contributed 69 BRAFi-cSCC lesions. BRAFi-cSCC had wart-like features (BRAFi-cSCC-WF) in 22% of specimens. During Vem therapy, BRAFi-cSCC-WF arose 11.6 weeks more rapidly than conventional-cSCC when controlled for gender and UV-exposure (p-value=0.03). Among all BRAFi-cSCC, β-genus HPV-17, HPV-38, HPV-111 were most frequently isolated and novel β-HPV genotypes were discovered (CTR, CRT-11, CRT-22). Sequencing revealed 63% of evaluated BRAFi-cSCCs harbored RAS mutations with PIK3CA, CKIT, ALK and EGFR mutations also detected. Conclusions We examined clinical, histopathologic, viral and genetic parameters in BRAFi-cSCC demonstrating rapid onset; wart-like histomorphology; β-HPV-17, HPV-38, and HPV-111 infection; UV damage; and novel ALK and CKIT mutations. Discovered β-HPV genotypes expand the spectrum of tumor-associated viruses. These findings enhance our understanding of factors cooperating with BRAF inhibition that accelerate keratinocyte oncogenesis as well as broaden the knowledge base of multifactorial mediators of cancer in general. PMID:25724524

Cutaneous metastasis: clinicopathological study of 72 patients from a tertiary care center in Lebanon.

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El Khoury, Jinane; Khalifeh, Ibrahim; Kibbi, Abdul-Ghani; Abbas, Ossama

2014-02-01

Cutaneous metastasis is the result of malignant cell spread from primary malignancy to the skin. This is not uncommon, and rates reported in the literature are as high as 10.4%. To the best of our knowledge, there are no studies assessing the epidemiologic, clinical, and histopathological features of cutaneous metastasis in our region. To assess the clinical and histopathological findings of all patients diagnosed with cutaneous metastasis at the American University of Beirut - Medical Center (AUB-MC) and to compare our findings with those published in the literature. Retrospective clinical and histopathologic evaluation of all cases diagnosed as cutaneous metastasis at AUB-MC between 1992 and 2010. A total of 72 patients (50 females and 22 males) were identified. The mean age at diagnosis was 55.2 years. The most common primary cancer was breast cancer in women and laryngeal cancer in men. The most common clinical presentation was a single nodule in 27% of cases followed by multiple nodules in 23%. Cutaneous metastasis lesions were asymptomatic in the majority. The chest was the most commonly affected site. On microscopy, the majority of metastatic cases were adenocarcinomas (74%). This is, to our knowledge, the first study characterizing the epidemiological, clinical, and histopathological features of cutaneous metastasis in the Lebanese population. The clinical and histopathological features observed were in concordance with the published literature, with minor differences. © 2013 The International Society of Dermatology.

Late-Onset N-Acetylglutamate Synthase Deficiency: Report of a Paradigmatic Adult Case Presenting with Headaches and Review of the Literature

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Cavicchi, Catia; Chilleri, Chiara; Fioravanti, Antonella; Ferri, Lorenzo; Ripandelli, Francesco; Costa, Cinzia; Calabresi, Paolo; Prontera, Paolo; Pochiero, Francesca; Pasquini, Elisabetta; Funghini, Silvia; la Marca, Giancarlo; Donati, Maria Alice

2018-01-01

N-acetylglutamate synthase deficiency (NAGSD) is an extremely rare urea cycle disorder (UCD) with few adult cases so far described. Diagnosis of late-onset presentations is difficult and delayed treatment may increase the risk of severe hyperammonemia. We describe a 52-year-old woman with recurrent headaches who experienced an acute onset of NAGSD. As very few papers focus on headaches in UCDs, we also report a literature review of types and pathophysiologic mechanisms of UCD-related headaches. In our case, headaches had been present since puberty (3–4 days a week) and were often accompanied by nausea, vomiting, or behavioural changes. Despite three previous episodes of altered consciousness, ammonia was measured for the first time at 52 years and levels were increased. Identification of the new homozygous c.344C>T (p.Ala115Val) NAGS variant allowed the definite diagnosis of NAGSD. Bioinformatic analysis suggested that an order/disorder alteration of the mutated form could affect the arginine-binding site, resulting in poor enzyme activation and late-onset presentation. After optimized treatment for NAGSD, ammonia and amino acid levels were constantly normal and prevented other headache bouts. The manuscript underlies that headache may be the presenting symptom of UCDs and provides clues for the rapid diagnosis and treatment of late-onset NAGSD. PMID:29364180

Late-Onset N-Acetylglutamate Synthase Deficiency: Report of a Paradigmatic Adult Case Presenting with Headaches and Review of the Literature

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Catia Cavicchi

2018-01-01

Full Text Available N-acetylglutamate synthase deficiency (NAGSD is an extremely rare urea cycle disorder (UCD with few adult cases so far described. Diagnosis of late-onset presentations is difficult and delayed treatment may increase the risk of severe hyperammonemia. We describe a 52-year-old woman with recurrent headaches who experienced an acute onset of NAGSD. As very few papers focus on headaches in UCDs, we also report a literature review of types and pathophysiologic mechanisms of UCD-related headaches. In our case, headaches had been present since puberty (3–4 days a week and were often accompanied by nausea, vomiting, or behavioural changes. Despite three previous episodes of altered consciousness, ammonia was measured for the first time at 52 years and levels were increased. Identification of the new homozygous c.344C>T (p.Ala115Val NAGS variant allowed the definite diagnosis of NAGSD. Bioinformatic analysis suggested that an order/disorder alteration of the mutated form could affect the arginine-binding site, resulting in poor enzyme activation and late-onset presentation. After optimized treatment for NAGSD, ammonia and amino acid levels were constantly normal and prevented other headache bouts. The manuscript underlies that headache may be the presenting symptom of UCDs and provides clues for the rapid diagnosis and treatment of late-onset NAGSD.

Immunity to endotoxin and Asp299Gly polymorphism of TLR-4 in adult patients with early and late onset of asthma

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Yu. A. Bisyuk

2015-06-01

Full Text Available Aim. The gene polymorphism of Asp299Gly TLR-4 may be associated with the risk of asthma development. Methods and results. The gene polymorphism of TLR-4 (Asp299Gly receptor has been researched in 262 early-onset and in 69 late-onset asthma patients. The state of anti-endotoxin immunity was assessed by determination of specific antibodies to the endotoxin of A, M, G classes and sCD14 by ELISA. The polymorphism was analyzed by the allele-specific polymerase chain reaction with electrophoretic detection. It was estimated that the risk of early-onset asthma in the population of Crimea is associated with genotypes AG and GG (Asp299Gly of TLR-4. There were increased levels of anti-endotoxin IgM and decreased of sIgA in patients with late-onset asthma and AA genotype as compared to other genotypes. Conclusion. The gene polymorphism of Asp299Gly TLR-4 is associated with the risk of early-onset asthma development in Crimea population.

Ampullary carcinoma with cutaneous metastasis

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I-Ting Liu

2016-06-01

Full Text Available Carcinoma of the ampulla of Vater is a rare gastrointestinal tumor. Additionally, cutaneous metastasis from such an internal malignancy is also uncommon. We reported the case of a 55-year-old man afflicted with ampullary carcinoma with cutaneous metastasis. The patient did not undergo the standard Whipple procedure but received chemotherapy due to apparent left neck lymph node metastasis noted by initial PET/CT imaging. The skin metastasis presented as a left neck infiltrating purpuric lesion, which was confirmed by skin biopsy approximately one year after the patient's disease was first diagnosed. Thereafter, the patient received further chemotherapy pursuant to his course of medical management. Skin metastasis usually represents a poor patient prognosis. In these cases, treatment of cutaneous metastasis typically includes systemic chemotherapy and local management such as radiation therapy or tumor excision. And when choosing a chemotherapy regimen for the ampullary cancer, the histological subtypes (intestinal or pancreatobiliary should be comprehensively considered. In our review of the literature, the intestinal type seems to have less distant lymph node metastasis, advanced local invasion, as well as recurrence than pancreatobiliary type of ampullary cancer.

Understanding Tobacco Use Onset Among African Americans.

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Roberts, Megan E; Colby, Suzanne M; Lu, Bo; Ferketich, Amy K

2016-04-01

Compared to the majority of non-Hispanic white ("white") cigarette smokers, many African American smokers demonstrate a later age of initiation. The goal of the present study was to examine African American late-onset smoking (ie, regular smoking beginning at age 18 or later) and determine whether late-onset (vs. early-onset) smoking is protective in terms of quit rates and health outcomes. We used data from the National Survey of Midlife Development in the United States (MIDUS) because the wide age range of participants (20-75 at baseline) allowed the examination of smoking cessation and mortality incidence across the lifespan. Consistent with previous research, results indicated a later average age of smoking onset among African Americans, compared to whites. Disentangling effects of race from age-of-onset, we found that the cessation rate among late-onset African American smokers was 33%, whereas rates for early-onset African American smokers and early- and late-onset white smokers ranged from 52% to 57%. Finally, results showed that among white, low-socioeconomic status (SES) smokers, the hazard rate for mortality was greater among early- versus late-onset smokers; in contrast, among African American smokers (both low- and high-SES) hazard rates for mortality did not significantly differ among early- versus late-onset smokers. Although late (vs. early) smoking onset may be protective for whites, the present results suggest that late-onset may not be similarly protective for African Americans. Tobacco programs and regulatory policies focused on prevention should expand their perspective to include later ages of initiation, in order to avoid widening tobacco-related health disparities. This study indicates that late-onset smoking is not only the norm among African American adult smokers, but that late- versus early-onset smoking (ie, delaying onset) does not appear to afford any benefits for African Americans in terms of cessation or mortality. These results

Late Onset Isolated Traumatic Pneumomediastinum in a Child: A Case Report

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Ali Kemal Erenler

2013-04-01

Full Text Available Pneumomediastinum (PM is defined as the presence of gas or free air in mediastinum. Pneumomediastinum may ocur either by trauma or spontaneously. Traumatic PM is frequently seen after blunt thoracic trauma, head trauma, after endoscopy-bronchoscopy (osephagus perforation, tracheobronchial injury and due to mechanical ventilation. Pneumomediastinum after blunt trauma is a lethal injury that generally occurs in adults with concomittant injuries such as rib fractures, hemo-pneumothorax and thoracic vascular injuries after high-energy traumas. We represent case report of a late onset isolated traumatic PM in a child and aim to underline the difficulty and importance of diagnosis of this lethal injury in the emergency department.

Late-onset ornithine transcarbamylase deficiency: An under recognized cause of metabolic encephalopathy

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Eric T Rush

2014-07-01

Full Text Available Introduction: Ornithine transcarbamylase deficiency is the most common inherited disorder of the urea cycle, has a variable phenotype, and is caused by mutations in the OTC gene. We report three cases of ornithine transcarbamylase deficiency to illustrate the late-onset presentation of this disorder and provide strategies for diagnosis and treatment. The patients were maternal first cousins, presenting with hyperammonemia and obtundation. Urea cycle disorder was not initially suspected in the first patient, delaying diagnosis. Results: Sequencing of the OTC gene showed a novel missense mutation, c.563G > C (p.G188A. Numerous family members were found to carry this mutation, which shows a trend toward later onset. Each urea cycle disorder has its own unique pattern of biochemical abnormalities, which differ from non-metabolic causes of critical illness. Conclusion: Regardless of age, clinical suspicion of a urea cycle disorder is important in encephalopathic patients to ensure quick diagnosis and definitive treatment of the underlying inborn error of metabolism.

Cutaneous metastasis to the face from lung adenocarcinoma ...

African Journals Online (AJOL)

Cutaneous metastases in the facial region occur in less than 0.5% of patients with metastatic cancer, and they usually originate from malignant melanoma. In this report, we describe an unusual case of lung adenocarcinoma metastasizing to his face at the time of initial diagnosis. The patient was 64-year-old man, a heavy ...

Distinct high resolution genome profiles of early onset and late onset colorectal cancer integrated with gene expression data identify candidate susceptibility loci

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Merok Marianne A

2010-05-01

Full Text Available Abstract Background Estimates suggest that up to 30% of colorectal cancers (CRC may develop due to an increased genetic risk. The mean age at diagnosis for CRC is about 70 years. Time of disease onset 20 years younger than the mean age is assumed to be indicative of genetic susceptibility. We have compared high resolution tumor genome copy number variation (CNV (Roche NimbleGen, 385 000 oligo CGH array in microsatellite stable (MSS tumors from two age groups, including 23 young at onset patients without known hereditary syndromes and with a median age of 44 years (range: 28-53 and 17 elderly patients with median age 79 years (range: 69-87. Our aim was to identify differences in the tumor genomes between these groups and pinpoint potential susceptibility loci. Integration analysis of CNV and genome wide mRNA expression data, available for the same tumors, was performed to identify a restricted candidate gene list. Results The total fraction of the genome with aberrant copy number, the overall genomic profile and the TP53 mutation spectrum were similar between the two age groups. However, both the number of chromosomal aberrations and the number of breakpoints differed significantly between the groups. Gains of 2q35, 10q21.3-22.1, 10q22.3 and 19q13.2-13.31 and losses from 1p31.3, 1q21.1, 2q21.2, 4p16.1-q28.3, 10p11.1 and 19p12, positions that in total contain more than 500 genes, were found significantly more often in the early onset group as compared to the late onset group. Integration analysis revealed a covariation of DNA copy number at these sites and mRNA expression for 107 of the genes. Seven of these genes, CLC, EIF4E, LTBP4, PLA2G12A, PPAT, RG9MTD2, and ZNF574, had significantly different mRNA expression comparing median expression levels across the transcriptome between the two groups. Conclusions Ten genomic loci, containing more than 500 protein coding genes, are identified as more often altered in tumors from early onset versus late

Clinical characteristics of spontaneous late-onset comitant acute nonaccommodative esotropia in children

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Kothari Mihir

2007-01-01

Full Text Available Purpose: To describe the clinical characteristics of spontaneous, late-onset comitant acute, nonaccommodative esotropia (ANAET in children. Materials and Methods: Clinical characteristics of a cohort of patients under 16 years of age with ANAET were studied retrospectively. Results: Of 15 patients eight were females. Mean age was 7.15 years (range 2.5-13, SD 3.34. Mean age of the onset of deviation was 3.2 years (range 1.5-9, SD 2.26. Mean duration of strabismus was 36 months (range 3-132, SD 43. History of a precipitating event was present in five patients (33.3%. Mean cycloplegic refraction was 1.84 diopter sphere (range -5.75 to +7.25, SD 3.55. Mean esodeviation for near and distance fixation was 40 prism diopter (range 15-90, SD 23.9. None had near/distance disparity of more than 5 prism diopter. Amblyopia was present in 13 cases (87%. Strabismus surgery was performed for eight patients. Five patients had orthophoria and three were aligned within 8 prisms esodeviation. Conclusion: ANAET is more common than previously reported, has a variable time of onset and high incidence of amblyopia. Timely management would avert emergence of amblyopia and vertical incomitance thereby promising better binocular outcome.

Is UV-A radiation a cause of malignant melanoma. Er UV-A aarsak til malignt melanom

Energy Technology Data Exchange (ETDEWEB)

Moan, J. (Det Norske Radiumhospital, Oslo (Norway))

1994-03-01

The first action spectrum for cutaneous malignant melanoma was published recently. This spectrum was obtained using the fish Xiphophorus. If the same action spectrum applies to humans, the following statements are true: Sunbathing products (agents to protect against the sun) that absorb UV-B radiation provide almost no protection against cutaneous malignant melanoma. UV-A-solaria are more dangerous than expected so far. If people are determined to use artificial sources of radiation for tanning, they should choose UV-B solaria rather than UV-A-solaria. Fluorescent tubes and halogen lamps may have weak melanomagenic effects. Ozone depletion has almost no effect on the incidence rates of CMM, since ozone absorbs very little UV-A radiation. Sunbathing products which contain UV-A-absorbing compounds or neutral filter (like titanium oxide) provide real protection against cutaneous malignant melanoma, at least if they are photochemically inert. 34 refs., 2 figs.

Association of apolipoprotein E allele {epsilon}4 with late-onset sporadic Alzheimer`s disease

Energy Technology Data Exchange (ETDEWEB)

Lucotte, G.; David, F.; Berriche, S. [Regional Center of Neurogenetics, Reims (France)] [and others

1994-09-15

Apolipoprotein E, type {epsilon}4 allele (ApoE {epsilon}4), is associated with late-onset sporadic Alzheimer`s disease (AD) in French patients. The association is highly significant (0.45 AD versus 0.12 controls for {epsilon}4 allele frequencies). These data support the involvement of ApoE {epsilon}4 allele as a very important risk factor for the clinical expression of AD. 22 refs., 1 fig., 3 tabs.

STAT4 polymorphism is associated with early-onset type 1 diabetes, but not with late-onset type 1 diabetes.

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Lee, Hye-Soon; Park, Hyewon; Yang, Seiwon; Kim, Dukhee; Park, Yongsoo

2008-12-01

In an effort to discover non-HLA genes affecting susceptibility to type 1 diabetes (T1D), we have investigated the association of polymorphisms in STAT4, an important signaling molecule of IL-12, gammaIFN, and IL-23, in a sample of 389 T1D patients and 152 nondiabetic controls in Korea. Four SNPs on chromosome 2q, which were recently found to be associated with rheumatoid arthritis, were examined for association and linkage disequilibrium. We found that neither alleles or genotypes among all four SNPs nor reconstructed haplotypes of the three SNPs within the same LD block (rs7574865, rs8179673, and rs10181656) were associated with susceptibility to T1D. When we stratified T1D patients into early-onset and late-onset subgroups on the basis of fewer or more than 7.8 years of age at diagnosis, however, the minor alleles of three SNPs (rs7574865, rs8179673, and rs10181656) showed a significant association with susceptibility to T1D in the early-onset subgroup (i.e., rs7574865, OR = 1.44 [1.03-2.01], P rs7574865, rs8179673, and rs10181656) showed very comparable degrees of risk for T1D. The age at diagnosis is lowest in the patients carrying the homozygotes of a minor allele, middle in the heterozygotes, and highest in the homozygotes of a major allele, suggesting the dosage effects of risk alleles on the age of onset of disease. Recognizing that only the early-onset cases might represent the true autoimmune T1D in Asian populations, we see that STAT4 alleles and haplotype might influence cytokine signaling and, therefore, development of T1D.

Cutaneous Metastasis of Medullary Carcinoma Thyroid Masquerading as Subcutaneous Nodules Anterior Chest and Mandibular Region

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Rahul Mannan

2014-01-01

Full Text Available Cutaneous metastasis of underlying primary malignancies can present to dermatologist with chief complaints of cutaneous lesions. The underlying malignancy is generally diagnosed much later after a complete assessment of the concerned case. Medullary carcinoma thyroid (MCT is a relatively uncommon primary neoplasia of the thyroid. Very few cases presenting as cutaneous metastases of MCT have been reported in the literature. Most of the cases which have been reported are of the papillary and the follicular types. We here report a case of a patient who presented in the dermatology clinic with the primary complaint of multiple subcutaneous nodules in anterior chest wall and left side of body of mandible. By systematic application of clinical and diagnostic skills these nodules were diagnosed as cutaneous metastasis of MCT bringing to the forefront a history of previously operated thyroid neoplasm. So clinically, the investigation of a flesh coloured subcutaneous nodule, presenting with a short duration, particularly in scalp, jaw, or anterior chest wall should include possibility of metastastic deposits. A dermatologist should keep a possibility of an internal organ malignancy in patients while investigating a case of flesh coloured subcutaneous nodules, presenting with short duration. A systematic application of clinical and diagnostic skills will eventually lead to such a diagnosis even when not suspected clinically at its primary presentation. A prompt and an emphatic diagnosis and treatment will have its bearing on the eventual outcome in all these patients.

Sporadic late-onset nemaline myopathy with MGUS: long-term follow-up after melphalan and SCT.

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Voermans, Nicol C; Benveniste, Olivier; Minnema, Monique C; Lokhorst, Henk; Lammens, Martin; Meersseman, Wouter; Delforge, Michel; Kuntzer, Thierry; Novy, Jan; Pabst, Thomas; Bouhour, Françoise; Romero, Norma; Leblond, Veronique; Bergh, Peter van den; Vekemans, Marie-Christiane; van Engelen, Baziel G; Eymard, Bruno

2014-12-02

Sporadic late-onset nemaline myopathy (SLONM) is a rare, late-onset myopathy that progresses subacutely. If associated with a monoclonal gammopathy of unknown significance (MGUS), the outcome is unfavorable: the majority of these patients die within 1 to 5 years of respiratory failure. This study aims to qualitatively assess the long-term treatment effect of high-dose melphalan (HDM) followed by autologous stem cell transplantation (SCT) in a series of 8 patients with SLONM-MGUS. We performed a retrospective case series study (n = 8) on the long-term (1-8 years) treatment effect of HDM followed by autologous SCT (HDM-SCT) on survival, muscle strength, and functional capacities. Seven patients showed a lasting moderate-good clinical response, 2 of them after the second HDM-SCT. All of them had a complete, a very good partial, or a partial hematologic response. One patient showed no clinical or hematologic response and died. This case series shows the positive effect of HDM-SCT in this rare disorder. Factors that may portend an unfavorable outcome are a long disease course before the hematologic treatment and a poor hematologic response. Age at onset, level and type of M protein (κ vs λ), and severity of muscle weakness were not associated with a specific outcome. This study provides Class IV evidence that for patients with SLONM-MGUS, HDM-SCT increases the probability of survival and functional improvement. © 2014 American Academy of Neurology.

Late-onset hypogonadism: beyond testosterone

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Carlo Foresta

2015-04-01

Full Text Available Late-onset hypogonadism is defined as a combination of low testosterone (T levels and typical symptoms and signs. A major area of uncertainty is whether T concentrations are always really sufficient to fully reflect Leydig cell (dysfunction. Mild testicular alteration could be diagnosed only by additional biochemical markers, such as luteinizing hormone (LH and 25-hydroxyvitamin D levels. These markers help in identifying the so-called "subclinical" hypogonadism (normal T, high LH levels. Patients with hypogonadism have frequently low levels of 25-hydroxyvitamin D due to impairment of the hydroxylating enzyme CYP2R1 in the testis. However, no data have been published dealing with the best treatment option (cholecalciferol - the Vitamin D precursor, or calcidiol - 25-hydroxylated form of Vitamin D in these patients. We studied 66 patients with classic hypogonadism (total T [TT] <12 nmol l−1 , LH ≥ 8 IU l−1 (n = 26 and subclinical hypogonadism (TT ≥ 12 nmol l−1 , LH ≥ 8 IU l−1 (n = 40 and low 25-hydroxyvitamin D (<50 nmol l−1 . Subjects received cholecalciferol (5000 IU per week (n = 20 or calcidiol (4000 IU per week (n = 46, and 25-hydroxyvitamin D and parathyroid hormone (PTH were evaluated after 3 months of therapy. Supplementation with calcidiol significantly increased 25-hydroxyvitamin D and significantly decreased PTH levels in both groups of men with hypogonadism (primary, n = 16 and subclinical, n = 30, whereas supplementation with cholecalciferol did not modify their levels. This study shows for the first time that the administration of the 25-hydroxylated form of Vitamin D (calcidiol, and not the administration of the precursor cholecalciferol, restores 25-hydroxyvitamin D levels in subjects with hypogonadism.

Rare variants in APP, PSEN1 and PSEN2 increase risk for AD in late-onset Alzheimer's disease families.

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Carlos Cruchaga

Full Text Available Pathogenic mutations in APP, PSEN1, PSEN2, MAPT and GRN have previously been linked to familial early onset forms of dementia. Mutation screening in these genes has been performed in either very small series or in single families with late onset AD (LOAD. Similarly, studies in single families have reported mutations in MAPT and GRN associated with clinical AD but no systematic screen of a large dataset has been performed to determine how frequently this occurs. We report sequence data for 439 probands from late-onset AD families with a history of four or more affected individuals. Sixty sequenced individuals (13.7% carried a novel or pathogenic mutation. Eight pathogenic variants, (one each in APP and MAPT, two in PSEN1 and four in GRN three of which are novel, were found in 14 samples. Thirteen additional variants, present in 23 families, did not segregate with disease, but the frequency of these variants is higher in AD cases than controls, indicating that these variants may also modify risk for disease. The frequency of rare variants in these genes in this series is significantly higher than in the 1,000 genome project (p = 5.09 × 10⁻⁵; OR = 2.21; 95%CI = 1.49-3.28 or an unselected population of 12,481 samples (p = 6.82 × 10⁻⁵; OR = 2.19; 95%CI = 1.347-3.26. Rare coding variants in APP, PSEN1 and PSEN2, increase risk for or cause late onset AD. The presence of variants in these genes in LOAD and early-onset AD demonstrates that factors other than the mutation can impact the age at onset and penetrance of at least some variants associated with AD. MAPT and GRN mutations can be found in clinical series of AD most likely due to misdiagnosis. This study clearly demonstrates that rare variants in these genes could explain an important proportion of genetic heritability of AD, which is not detected by GWAS.

Characteristics of the spouse caregiving experience: Comparison between early- and late-onset dementia.

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Wawrziczny, Emilie; Berna, Guillaume; Ducharme, Francine; Kergoat, Marie-Jeanne; Pasquier, Florence; Antoine, Pascal

2017-06-20

To investigate the characteristics of the caregiving experience according to age at onset of dementia to adapt support programs. Fifty-seven spouse caregivers of persons with early-onset dementia (PEOD) and 93 spouse caregivers of persons with late-onset dementia (PLOD) participated. The characteristics of the caregiving experience were assessed using questionnaires. We compared the two groups according to age at onset of the disease using a multivariate test, Pillai's Trace test. The analysis showed that there were similarities and differences between the two groups of spouse caregivers. All spouse caregivers were confident in their caregiving role and fairly well prepared for future needs and reported mild depressive and anxious symptoms. However, they lacked informal support, had low confidence in requesting respite care and reported effects on their health. Compared to spouse caregivers of PLOD, spouse caregivers of PEOD had more severe perceptions of the cognitive disorders of persons with dementia (PWD) and had a better sense of preparedness and knowledge of services. Spouse caregivers of PLOD were more confident in their ability to control disturbing thoughts. The results suggest that programs should provide information on support networks to improve preparedness for spouse caregivers of PLOD as well as emphasizing positive coping strategies for caregivers of PEOD to maintain good-quality relationships with PWD, which influences the perception of the symptoms. For both groups, family relationships should be considered.

A randomized controlled trial of coenzyme Q10 for fatigue in the late-onset sequelae of poliomyelitis.

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Peel, Margaret M; Cooke, Marie; Lewis-Peel, Helen J; Lea, Rodney A; Moyle, Wendy

2015-12-01

To determine if coenzyme Q(10) alleviates fatigue in the late-onset sequelae of poliomyelitis. Parallel-group, randomized, placebo-controlled trial. Coenzyme Q(10) has been shown to boost muscle energy metabolism in post-polio subjects but it does not promote muscle strength, endurance or function in polio survivors with post-poliomyelitis syndrome. However, the collective increased energy metabolism might contribute to a reduction in post-polio fatigue. Polio survivors from the Australian post-polio networks in Queensland and New South Wales who attribute a moderate to high level of fatigue to their diagnosed late-onset sequelae of poliomyelitis. Those with fatigue-associated comorbidities of diabetes, anaemia, hypothyroidism and fibromyalgia were excluded. Participants were assigned (1:1), with stratification of those who use energy-saving mobility aids, to receive 100 mg coenzyme Q(10) or matching placebo daily for 60 days. Participants and investigators were blinded to group allocation. Fatigue was assessed by the Multidimensional Assessment of Fatigue as the primary outcome and the Fatigue Severity Scale as secondary outcome. Of 103 participants, 54 were assigned to receive coenzyme Q(10) and 49 to receive the placebo. The difference in the mean score reductions between the two groups was not statistically significant for either fatigue measure. Oral supplementation with coenzyme Q(10) was safe and well-tolerated. A daily dose of 100 mg coenzyme Q(10) for 60 days does not alleviate the fatigue of the late-onset sequelae of poliomyelitis. The registration number for the clinical trial is ACTRN 12612000552886. Copyright © 2015 Elsevier Ltd. All rights reserved.

Malignant melanoma as a model for cancer education and prevention. 1989 Harvey lecture American Association for Cancer Education.

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Robinson, W A

1990-01-01

Cutaneous malignant melanoma is one of the most rapidly increasing and highly fatal cancers in the world today. Current estimates suggest that 1 in 90-100 Caucasians will develop MM by the year 2000, and 20%-30% will eventually die of the disease. The cause of the epidemic of malignant melanoma is clearly increasing exposure to the sun from lifestyle and clothing habits that have changed over the past 50 years. The disease occurs primarily in preexisting nevi in sun-exposed sites in specific high risk populations who can be, and have been, defined. These are primarily middle- and upper middle-class Caucasians with blue eyes, brown or blonde hair, and fair skin, with predominantly indoor occupations who spend, or have spent, considerable time outdoors in leisure and other activities. The presence of a clearly definable cause (exposure to the sun) in specific risk groups, the ease of early detection by simple means, and the devastating outcome of late diagnosis make malignant melanoma an ideal model for teaching the basic tenets of cancer causation, development, and prevention to the public and professionals alike.

[Comparision of risk factors and pathogens in patients with early- and late-onset ventilator-associated pneumonia in intensive care unit].

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Liang, Y J; Li, Z L; Wang, L; Liu, B Y; Ding, R Y; Ma, X C

2017-10-01

Objective: To compare risk factors and bacterial etiology in patients with early-onset versus late-onset ventilator-associated pneumonia (VAP) in intensive care unit (ICU). Methods: This prospective cohort study enrolled mechanically ventilated patients hospitalized for more than 48 hours in the first affiliated hospital, China Medical University from Jan 2012 to Jun 2016. Subjects were classified by ventilator status: early-onset VAP (VAP) or late-onset VAP (≥ 5 d ventilation, L-VAP). Potential risk factors and pathogen were evaluated. Results: A total of 4 179 patients in adult ICU were screened, 3 989 (95.5%) of whom were mechanically ventilated, 962 patients with mechanical ventilation time ≥ 48 h. VAP developed in 142 patients. E-VAP and L-VAP had different potential risk factors based on statistical analysis.Independent risk factors for E-VAP included male ( OR =1.825, 95% CI 1.006-3.310), chronic obstructive pulmonary disease (COPD; OR =3.746, 95% CI 1.795-7.818), emergency intubation ( OR =1.932, 95% CI 1.139-3.276), aspiration ( OR =3.324, 95% CI 1.359-8.130). Whereas independent risk factors for L-VAP were coma ( OR =2.335, 95% CI 1.300-4.194), renal dysfunction ( OR =0.524, 95% CI 0.290-0.947), emergency intubation ( OR =2.184, 95% CI 1.334-3.574). Mortality in E-VAP and L-VAP group were both higher than the non-VAP group[30.2%(19/63)vs 19.8%(162/820), P =0.044; 29.1%(23/79) vs 19.8%(162/820), P =0.046]. The pathogens isolated from early-onset versus late-onset VAP were not significantly different between groups, which the most common ones were acinetobacter baumannii, pseudomonas aeruginosa and klebsiella pneumoniae. Conclusion: E-VAP and L-VAP have different risk factors, however related pathogens are similar. Different specific preventive strategies are suggested based on different onset of VAP.

Association of late-onset neonatal sepsis with late neurodevelopment in the first two years of life of preterm infants with very low birth weight

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Claudia Regina Hentges

2014-01-01

Full Text Available OBJECTIVE: To establish the influence of late-onset sepsis on neurodevelopment of preterm infants with very low birth weight (VLBW, according to the etiologic agent METHOD: This was a cohort of newborns with birth weight < 1,500 g and gestational age less than 32 weeks, admitted to the institutional intensive care unit (ICU with up to 48 hours of life, and followed-up at the outpatient follow-up clinic for preterm infants with VLBW until 2 years of corrected age. Exclusion criteria: death within the first 72 hours of life, congenital malformations and genetic syndromes, children with congenital infection by the human immunodeficiency virus (HIV, congenital infection (STORCH, presence of early-onset spesis and cases with more than one pathogen growth in blood cultures. Septic and non-septic infants were compared regarding neonatal outcomes and mortality. Neurodevelopment was assessed using the Bayley Scale (BSDI-II at 18 to 24 months of corrected age. RESULTS: 411 preterm infants with VLBW were eligible; the mean gestational age was 29 ± 2.2 weeks and mean birth weight was 1,041 ± 281grams. Late-onset sepsis occurred in 94 preterm infants with VLBW (22.8%. VLBW infants with Gram-positive infection showed motor deficit when compared to the non-septic group, 68.8% vs. 29.3%, respectively (OR 6; 1.6-21.8, p = 0.006; the cognitive development was similar between the groups. The overall mortality rate from infection was 26.7%; considering the pathogens, the rates were 18.7% for coagulase-negative Staphylococcus, 21.8% for Gram-positive bacteria, and 50% for Gram-negative bacteria and fungi. CONCLUSION: Neonatal sepsis has a significant influence on late neurodevelopment at 2 years of corrected age in preterm infants with VLBW, and Gram-positive infections are associated with motor deficit.

Association of late-onset neonatal sepsis with late neurodevelopment in the first two years of life of preterm infants with very low birth weight.

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Hentges, Cláudia Regina; Silveira, Rita C; Procianoy, Renato Soibelmann; Carvalho, Clarissa Gutierrez; Filipouski, Gabriela Ribeiro; Fuentefria, Rubia Nascimento; Marquezotti, Fernanda; Terrazan, Ana Carolina

2014-01-01

To establish the influence of late-onset sepsis on neurodevelopment of preterm infants with very low birth weight (VLBW), according to the etiologic agent. This was a cohort of newborns with birth weight<1,500 g and gestational age less than 32 weeks, admitted to the institutional intensive care unit (ICU) with up to 48 hours of life, and followed-up at the outpatient follow-up clinic for preterm infants with VLBW until 2 years of corrected age. death within the first 72 hours of life, congenital malformations and genetic syndromes, children with congenital infection by the human immunodeficiency virus (HIV), congenital infection (STORCH), presence of early-onset sepsis and cases with more than one pathogen growth in blood cultures. Septic and non-septic infants were compared regarding neonatal outcomes and mortality. Neurodevelopment was assessed using the Bayley Scale (BSDI-II) at 18 to 24 months of corrected age. 411 preterm infants with VLBW were eligible; the mean gestational age was 29 ± 2.2 weeks and mean birth weight was 1,041 ± 281 grams. Late-onset sepsis occurred in 94 preterm infants with VLBW (22.8%). VLBW infants with Gram-positive infection showed motor deficit when compared to the non-septic group, 68.8% vs. 29.3%, respectively (OR 6; 1.6-21.8, p=0.006); the cognitive development was similar between the groups. The overall mortality rate from infection was 26.7%; considering the pathogens, the rates were 18.7% for coagulase-negative Staphylococcus, 21.8% for Gram-positive bacteria, and 50% for Gram-negative bacteria and fungi. Neonatal sepsis has a significant influence on late neurodevelopment at 2 years of corrected age in preterm infants with VLBW, and Gram-positive infections are associated with motor deficit. Copyright © 2013 Sociedade Brasileira de Pediatria. Published by Elsevier Editora Ltda. All rights reserved.

Late-onset and rare far-advanced pulmonary involvement in patients with sarcoidosis in Taiwan.

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Hsieh, Chia-Wei; Chen, Der-Yuan; Lan, Joung-Liang

2006-04-01

Sarcoidosis is still considered a rare multisystem disorder in Taiwan, and data on the disease course and outcome are limited. We analyzed the clinical manifestations, disease course and complications in Taiwanese patients with sarcoidosis. A retrospective cohort design was used. Fifty-six patients with sarcoidosis diagnosed between 1985 and 2004 were included. Their clinical features, laboratory findings at initial presentation, disease course, and complications were analyzed. Forty-three patients (76.8%) were female. The mean age at symptom onset was 47 years. The most common clinical symptoms were pulmonary (82.1%), cutaneous (23.2%), ophthalmic (19.6%), and articular (17.8%). Only two patients presented with Löfgren's syndrome. There was a seasonal variation in disease onset, with higher incidence in winter and early spring. No advanced pulmonary involvement was noted. Elevated levels of serum angiotensin converting enzyme (sACE) were found in 72.5% (29/40) of patients with active sarcoidosis, and significantly higher levels of sACE were found in patients with lung involvement (27.98+/-1.71 IU/L vs. 18.2+/-2.76 IU/L; psACE levels declined significantly in parallel with clinical remission (24.75+/-1.53 IU/L vs. 16.33+/-1.21 IU/L; psACE might be a marker of pulmonary involvement that is also useful in monitoring disease activity.

Genome-Wide Mapping of 5mC and 5hmC Identified Differentially Modified Genomic Regions in Late-Onset Severe Preeclampsia: A Pilot Study.

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Lisha Zhu

Full Text Available Preeclampsia (PE is a leading cause of perinatal morbidity and mortality. However, as a common form of PE, the etiology of late-onset PE is elusive. We analyzed 5-methylcytosine (5mC and 5-hydroxymethylcytosine (5hmC levels in the placentas of late-onset severe PE patients (n = 4 and normal controls (n = 4 using a (hydroxymethylated DNA immunoprecipitation approach combined with deep sequencing ([h]MeDIP-seq, and the results were verified by (hMeDIP-qPCR. The most significant differentially methylated regions (DMRs were verified by MassARRAY EppiTYPER in an enlarged sample size (n = 20. Bioinformatics analysis identified 714 peaks of 5mC that were associated with 403 genes and 119 peaks of 5hmC that were associated with 61 genes, thus showing significant differences between the PE patients and the controls (>2-fold, p<0.05. Further, only one gene, PTPRN2, had both 5mC and 5hmC changes in patients. The ErbB signaling pathway was enriched in those 403 genes that had significantly different 5mC level between the groups. This genome-wide mapping of 5mC and 5hmC in late-onset severe PE and normal controls demonstrates that both 5mC and 5hmC play epigenetic roles in the regulation of the disease, but work independently. We reveal the genome-wide mapping of DNA methylation and DNA hydroxymethylation in late-onset PE placentas for the first time, and the identified ErbB signaling pathway and the gene PTPRN2 may be relevant to the epigenetic pathogenesis of late-onset PE.

Late-Onset Anaphylaxis Due to Poly (γ-glutamic acid in the Soup of Commercial Cold Chinese Noodles in a Patient with Allergy to Fermented Soybeans (Natto

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Naoko Inomata

2011-01-01

Discussion: These results indicated that in the present case, the relevant allergen of late-onset anaphylaxis may have been PGA in all episodes and that the patient had been sensitized by PGA through natto ingestion. PGA is produced by Bacillus subtilis during fermentation and is a high-molecular, biodegradable polymer. The late onset is therefore, hypothesized to be due to a delayed absorption of PGA, as PGA biodegrades to peptides sufficiently small to be absorbed in the bowel. PGA has recently been applied to a wide range of fields such as foods, cosmetics, and medicine. Therefore, patients with late-onset anaphylaxis to PGA of natto should avoid not only natto but also other materials containing PGA.

Late-onset radiation-induced vasculopathy and stroke in a child with medulloblastoma.

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Bansal, Lalit R; Belair, Jeffrey; Cummings, Dana; Zuccoli, Giulio

2015-05-01

We report a case of a 15-year-old boy who presented to our institution with left-sided weakness and slurred speech. He had a history of medulloblastoma diagnosed at 3 years of age, status postsurgical resection and craniospinal radiation. Magnetic resonance imaging (MRI) of brain revealed a right paramedian pontine infarction, suspected secondary to late-onset radiation-induced vasculopathy of the vertebrobasilar system. Radiation to the brain is associated with increased incidence of ischemic stroke. Clinicians should have a high index of suspicion for stroke when these patients present with new neurologic symptoms. © The Author(s) 2014.

Comparison between Early-Onset and Late-Onset Alzheimer's Disease Patients with Amnestic Presentation: CSF and 18F-FDG PET Study

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Agostino Chiaravalloti

2016-04-01

Full Text Available Background/Aims: To investigate the differences in brain glucose consumption between patients with early onset of Alzheimer's disease (EOAD, aged ≤65 years and patients with late onset of Alzheimer's disease (LOAD, aged >65 years. Methods: Differences in brain glucose consumption between the groups have been evaluated by means of Statistical Parametric Mapping version 8, with the use of age, sex, Mini-Mental State Examination and cerebrospinal fluid values of Aβ1-42, phosphorylated Tau and total Tau as covariates in the comparison between EOAD and LOAD. Results: As compared to LOAD, EOAD patients showed a significant decrease in glucose consumption in a wide portion of the left parietal lobe (BA7, BA31 and BA40. No significant differences were obtained when subtracting the EOAD from the LOAD group. Conclusions: The results of our study show that patients with EOAD show a different metabolic pattern as compared to those with LOAD that mainly involves the left parietal lobe.

Comparison between Early-Onset and Late-Onset Alzheimer's Disease Patients with Amnestic Presentation: CSF and 18F-FDG PET Study

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Chiaravalloti, Agostino; Koch, Giacomo; Toniolo, Sofia; Belli, Lorena; Lorenzo, Francesco Di; Gaudenzi, Sara; Schillaci, Orazio; Bozzali, Marco; Sancesario, Giuseppe; Martorana, Alessandro

2016-01-01

Background/Aims To investigate the differences in brain glucose consumption between patients with early onset of Alzheimer's disease (EOAD, aged ≤65 years) and patients with late onset of Alzheimer's disease (LOAD, aged >65 years). Methods Differences in brain glucose consumption between the groups have been evaluated by means of Statistical Parametric Mapping version 8, with the use of age, sex, Mini-Mental State Examination and cerebrospinal fluid values of AΒ1-42, phosphorylated Tau and total Tau as covariates in the comparison between EOAD and LOAD. Results As compared to LOAD, EOAD patients showed a significant decrease in glucose consumption in a wide portion of the left parietal lobe (BA7, BA31 and BA40). No significant differences were obtained when subtracting the EOAD from the LOAD group. Conclusions The results of our study show that patients with EOAD show a different metabolic pattern as compared to those with LOAD that mainly involves the left parietal lobe. PMID:27195000

Late-Onset Cognitive Impairments after Early-Life Stress Are Shaped by Inherited Differences in Stress Reactivity

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McIlwrick, Silja; Pohl, Tobias; Chen, Alon; Touma, Chadi

2017-01-01

Early-life stress (ELS) has been associated with lasting cognitive impairments and with an increased risk for affective disorders. A dysregulation of the hypothalamus-pituitary-adrenal (HPA) axis, the body’s main stress response system, is critically involved in mediating these long-term consequences of adverse early-life experience. It remains unclear to what extent an inherited predisposition for HPA axis sensitivity or resilience influences the relationship between ELS and cognitive impairments, and which neuroendocrine and molecular mechanisms may be involved. To investigate this, we exposed animals of the stress reactivity mouse model, consisting of three independent lines selectively bred for high (HR), intermediate (IR), or low (LR) HPA axis reactivity to a stressor, to ELS and assessed their cognitive performance, neuroendocrine function and hippocampal gene expression in early and in late adulthood. Our results show that HR animals that were exposed to ELS exhibited an HPA axis hyper-reactivity in early and late adulthood, associated with cognitive impairments in hippocampus-dependent tasks, as well as molecular changes in transcript levels involved in the regulation of HPA axis activity (Crh) and in neurotrophic action (Bdnf). In contrast, LR animals showed intact cognitive function across adulthood, with no change in stress reactivity. Intriguingly, LR animals that were exposed to ELS even showed significant signs of enhanced cognitive performance in late adulthood, which may be related to late-onset changes observed in the expression of Crh and Crhr1 in the dorsal hippocampus of these animals. Collectively, our findings demonstrate that the lasting consequences of ELS at the level of cognition differ as a function of inherited predispositions and suggest that an innate tendency for low stress reactivity may be protective against late-onset cognitive impairments after ELS. PMID:28261058

Late neurological complications after irradiation of malignant tumors of the testis

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Knap, Marianne M.; Overgaard, Jens; Bentzen, Soeren M.

2007-01-01

To identify and describe late neurological complications in a Danish testis cancer cohort treated by radiotherapy. Clinical retrospective material of 94 consecutive patients with malignant testicular tumours treated at Aarhus County Hospital from 1964 to 1973. The irradiated dose in the paraaortic field varied from 27 to 55 Gy given 5 or 6 days a week, from the back and front alternately. The biological equivalent dose of the spinal cord was calculated using the linear-quadratic model. Median follow-up was 25 years, range 7 to 33 years. Seven patients were identified with late neurological complications after irradiation. One developed symptoms 9 months after treatment, but in the six other cases we found a latency period between 10 and 20 years from radiotherapy until the initial neurological symptoms began. The clinical picture in all seven patients was dominated by muscle atrophy, flaccid paresis in the lower limbs and absence of sphincter disturbances or sensory symptoms. High spinal cord dose was related to increased risk of neurological damage. During follow-up 19 patients developed another primary cancer in the radiation field; nine patients were diagnosed with severe arteriosclerosis and 13 patients with long-term gastrointestinal morbidity. Seven patients were identified with late neurological complications, and a clear dose-incidence relationship was shown. The latency period, from irradiation to the initial neurological symptoms began, ranged from 9 months to 20 years with progression of symptoms beyond 25 years. Furthermore many patients in the cohort suffered from solid tumours in the radiation field, severe arteriosclerosis and long-term gastrointestinal morbidity

Late neurological complications after irradiation of malignant tumors of the testis

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Knap, Marianne M.; Overgaard, Jens [Danish Cancer Society, Dept. of Experimental Clinical Oncology, Aarhus Univ. Hospital, Aarhus (Denmark); Bentzen, Soeren M. [Dept. of Human Oncology, Univ. of Wisconsin Medical School, Madison, WI (United States)

2007-05-15

To identify and describe late neurological complications in a Danish testis cancer cohort treated by radiotherapy. Clinical retrospective material of 94 consecutive patients with malignant testicular tumours treated at Aarhus County Hospital from 1964 to 1973. The irradiated dose in the paraaortic field varied from 27 to 55 Gy given 5 or 6 days a week, from the back and front alternately. The biological equivalent dose of the spinal cord was calculated using the linear-quadratic model. Median follow-up was 25 years, range 7 to 33 years. Seven patients were identified with late neurological complications after irradiation. One developed symptoms 9 months after treatment, but in the six other cases we found a latency period between 10 and 20 years from radiotherapy until the initial neurological symptoms began. The clinical picture in all seven patients was dominated by muscle atrophy, flaccid paresis in the lower limbs and absence of sphincter disturbances or sensory symptoms. High spinal cord dose was related to increased risk of neurological damage. During follow-up 19 patients developed another primary cancer in the radiation field; nine patients were diagnosed with severe arteriosclerosis and 13 patients with long-term gastrointestinal morbidity. Seven patients were identified with late neurological complications, and a clear dose-incidence relationship was shown. The latency period, from irradiation to the initial neurological symptoms began, ranged from 9 months to 20 years with progression of symptoms beyond 25 years. Furthermore many patients in the cohort suffered from solid tumours in the radiation field, severe arteriosclerosis and long-term gastrointestinal morbidity.

Skeletal Muscle Magnetic Resonance Imaging of the Lower Limbs in Late-onset Lipid Storage Myopathy with Electron Transfer Flavoprotein Dehydrogenase Gene Mutations

Institute of Scientific and Technical Information of China (English)

Xin-Yi Liu; Ming Jin; Zhi-Qiang Wang; Dan-Ni Wang; Jun-Jie He; Min-Ting Lin; Hong-Xia Fu

2016-01-01

Background:Lipid storage myopathy (LSM) is a genetically heterogeneous group with variable clinical phenotypes.Late-onset multiple acyl-coenzyme A dehydrogenation deficiency (MADD) is a rather common form of LSM in China.Diagnosis and clinical management of it remain challenging,especially without robust muscle biopsy result and genetic detection.As the noninvasion and convenience,muscle magnetic resonance imaging (MRI) is a helpful assistant,diagnostic tool for neuromuscular disorders.However,the disease-specific MRI patterns of muscle involved and its diagnostic value in late-onset MADD have not been systematic analyzed.Methods:We assessed the MRI pattern and fat infiltration degree of the lower limb muscles in 28 late-onset MADD patients,combined with detailed clinical features and gene spectrum.Fat infiltration degree of the thigh muscle was scored while that ofgluteus was described as obvious or not.Associated muscular atrophy was defined as obvious muscle bulk reduction.Results:The mean scores were significantly different among the anterior,medial,and posterior thigh muscle groups.The mean of fat infiltration scores on posterior thigh muscle group was significantly higher than either anterior or medial thigh muscle group (P ＜ 0.001).Moreover,the mean score on medial thigh muscle group was significantly higher than that of anterior thigh muscle group (P ＜ 0.01).About half of the patients displayed fat infiltration and atrophy in gluteus muscles.Of 28 patients,12 exhibited atrophy in medial and/or posterior thigh muscle groups,especially in posterior thigh muscle group.Muscle edema pattern was not found in all the patients.Conclusions:Late-onset MADD patients show a typical muscular imaging pattern of fat infiltration and atrophy on anterior,posterior,and medial thigh muscle groups,with major involvement of posterior thigh muscle group and gluteus muscles and a sparing involvement of anterior thigh compartment.Our findings also suggest that muscle MRI of

Current and Emerging Therapeutics for Cutaneous T-Cell Lymphoma: Histone Deacetylase Inhibitors

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Annabelle L. Rodd; Katherine Ververis; Tom C. Karagiannis

2012-01-01

Cutaneous T-cell lymphoma is a term that encompasses a spectrum of non-Hodgkin’s T-cell lymphomas with primary manifestations in the skin. It describes a heterogeneous group of neoplasms that are characterised by an accumulation of malignant T cells of the CD4 phenotype that have the propensity to home and accumulate in the skin, lymph nodes, and peripheral blood. The two most common variants of cutaneous T-cell lymphoma include mycosis fungoides and the leukemic variant, the Sézary syndrome....

Correlation of Acute and Late Brainstem Toxicities With Dose-Volume Data for Pediatric Patients With Posterior Fossa Malignancies

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Nanda, Ronica H., E-mail: rhazari@emory.edu [Department of Radiation Oncology, Winship Cancer Institute, Emory University College of Medicine, Atlanta, Georgia (United States); Ganju, Rohit G.; Schreibmann, Edward [Department of Radiation Oncology, Winship Cancer Institute, Emory University College of Medicine, Atlanta, Georgia (United States); Chen, Zhengjia; Zhang, Chao [Department of Biostatistics and Bioinformatics Shared Resource, Winship Cancer Institute, Emory University Rollins School of Public Health, Atlanta, Georgia (United States); Jegadeesh, Naresh; Cassidy, Richard; Deng, Claudia; Eaton, Bree R.; Esiashvili, Natia [Department of Radiation Oncology, Winship Cancer Institute, Emory University College of Medicine, Atlanta, Georgia (United States)

2017-06-01

Purpose: Radiation-induced brainstem toxicity after treatment of pediatric posterior fossa malignancies is incompletely understood, especially in the era of intensity modulated radiation therapy (IMRT). The rates of, and predictive factors for, brainstem toxicity after photon RT for posterior fossa tumors were examined. Methods and Materials: After institutional review board approval, 60 pediatric patients treated at our institution for nonmetastatic infratentorial ependymoma and medulloblastoma with IMRT were included in the present analysis. Dosimetric variables, including the mean and maximum dose to the brainstem, the dose to 10% to 90% of the brainstem (in 10% increments), and the volume of the brainstem receiving 40, 45, 50, and 55 Gy were recorded for each patient. Acute (onset within 3 months) and late (>3 months of RT completion) RT-induced brainstem toxicities with clinical and radiographic correlates were scored using Common Terminology Criteria for Adverse Events, version 4.0. Results: Patients aged 1.4 to 21.8 years underwent IMRT or volumetric arc therapy postoperatively to the posterior fossa or tumor bed. At a median clinical follow-up period of 2.8 years, 14 patients had developed symptomatic brainstem toxicity (crude incidence 23.3%). No correlation was found between the dosimetric variables examined and brainstem toxicity. Vascular injury or ischemia showed a strong trend toward predicting brainstem toxicity (P=.054). Patients with grade 3 to 5 brainstem toxicity had undergone treatment to significant volumes of the posterior fossa. Conclusion: The results of the present series demonstrate a low, but not negligible, risk of brainstem radiation necrosis for pediatric patients with posterior fossa malignancies treated with IMRT. No specific dose-volume correlations were identified; however, modern treatment volumes might help limit the incidence of severe toxicity. Additional work investigating inherent biologic sensitivity might also provide

Diagnostic performance of Tc-99m HMPAO SPECT for early and late onset Alzheimer's disease. A clinical evaluation of linearization correction

International Nuclear Information System (INIS)

Mitsumoto, Tatsuya; Sakaguchi, Yuichi; Morishita, Junji; Sasaki, Masayuki; Ohya, Nobuyoshi; Abe, Koichiro; Ichimiya, Atsushi; Kiyota, Aya

2009-01-01

This study examined the influence of linearization correction (LC) on brain perfusion single-photon emission computed tomography (SPECT) for the diagnosis of Alzheimer's disease (AD). The early onset group (<65 years old) consisted of 10 patients with AD, and the late onset group (≥65 years old) of 13 patients with AD. Age-matched controls included seven younger and seven older normal volunteers. Tc-99m hexamethyl propyleneamine oxine (HMPAO) SPECT images were reconstructed with or without LC [LC (+) or LC (-)] and a statistical analysis was performed using a three-dimensional stereotactic surface projection (3D-SSP). In addition, a fully automatic diagnostic system was developed, which calculated the proportion of the number of abnormal pixels in the superior and inferior parietal lobule, as well as in the precuneus and posterior cingulate gyrus. The areas under the receiver-operating characteristic curve (AUCs) of the early onset group for conventional axial SPECT images, SPECT+3D-SSP images and the fully automatic diagnostic system were 0.71, 0.88, and 0.92 in LC (-) and 0.67, 0.85, and 0.91 in LC (+), respectively. The AUCs of the late onset group were 0.50, 0.61, and 0.79 in LC (-) and 0.49, 0.67, and 0.85 in LC (+), respectively. LC on Tc-99m HMPAO SPECT did not significantly influence the diagnostic performance for differentiating between AD and normal controls in either early or late onset AD. Further examination with individuals suffering from very mild dementia is, therefore, expected to elucidate the effect of LC on minimally hypoperfused areas. (author)

Radiation port cutaneous metastases: Reports of two patients whose recurrent visceral cancers presented as skin lesions at the site of previous radiation and literature review

Directory of Open Access Journals (Sweden)

Brian Spencer Hoyt

2014-01-01

Full Text Available Radiation therapy is associated with a variety of complications, including the development of primary skin cancers in the radiated region. However, it is rare for patients with visceral cancers who are treated with radiation therapy to subsequently develop cutaneous metastasis within the radiation port. We describe two patients with internal malignancies who developed cutaneous metastases within their radiation ports following radiotherapy. In addition, we used PubMed to perform an extensive literature review and identify additional reports of cutaneous metastasis within a radiation port. We excluded patients who developed melanoma or primary skin cancers in the radiation port. We also excluded patients with non-solid organ malignancies. Herein, we summarize the characteristics of 23 additional patients who experienced radiation port cutaneous metastases and explore possible mechanisms for the occurrence of radiation port cutaneous metastases.

Late-onset form of beta-electron transfer flavoprotein deficiency

DEFF Research Database (Denmark)

Curcoy, A; Olsen, Rikke Katrine Jentoft; Ribes, A

2003-01-01

Multiple acyl-CoA-dehydrogenase deficiency (MADD) or glutaric aciduria type II (GAII) are a group of metabolic disorders due to deficiency of either electron transfer flavoprotein (ETF) or electron transfer flavoprotein ubiquinone oxidoreductase (ETF-QO). We report the clinical features...... and biochemical and molecular genetic analyses of a patient with a mild late-onset form of GAII due to beta-ETF deficiency. Biochemical data showed an abnormal urine organic acid profile, low levels of free carnitine, increased levels of C(10:1n-6), and C(14:1n-9) in plasma, and decreased oxidation of [9,10-3H......]palmitate and [9,10-3H]myristate in fibroblasts, suggesting MAD deficiency. In agreement with these findings, mutational analysis of the ETF/ETFDH genes demonstrated an ETFB missense mutation 124T>C in exon 2 leading to replacement of cysteine-42 with arginine (C42R), and a 604_606AAG deletion in exon 6...

Late-onset Rise of 6-MMP Metabolites in IBD Patients on Azathioprine or Mercaptopurine.

Science.gov (United States)

Munnig-Schmidt, Erik; Zhang, Mei; Mulder, Chris J; Barclay, Murray L

2018-03-19

The thiopurines azathioprine and mercaptopurine remain pivotal maintenance treatments in inflammatory bowel disease (IBD); however, up to 15%-20% of patients preferentially produce the hepatotoxic metabolite 6-methylmercaptopurine (6MMP) at the expense of the therapeutic 6-thioguanine nucleotides (6TGN). This metabolic shunting usually begins within 3 months of therapy. We noted patients developing shunting many months or years after starting treatment and aimed to determine how often this late shunting occurs and whether this could be explained by patient factors or concomitant medications. The New Zealand database of thiopurine metabolite results from 2002 to 2016 (19085 6TGN/6MMP pairs from 7130 patients) was interrogated to identify patients developing a 6MMP/6TGN ratio >20 after at least 4 months treatment. Dosing history, concomitant therapy, and comorbidity data were assessed. Fifteen percent of database patients developed preferential 6-MMP production, and of these, 29 patients had late-onset shunting with sufficient data available for validation. This extrapolates to 90 patients in total, representing 1.7% of IBD patients on thiopurines, or 10% of all those with preferential 6-MMP production. Time from starting therapy to shunting was 5 months to 10.4 years (median, 21 months). Eleven patients had abnormal liver function when shunting was recognized, all with 6MMP >5900 pmol/8 × 108 red blood cells. No common factors were found to explain the late onset. Some IBD patients develop preferential 6MMP production many months or years after commencing therapy. This is important when considering frequency of metabolite monitoring, failure of therapy, or abnormal liver function. 10.1093/ibd/izx081_video1izx081.video15746667546001.

Mutation in LEMD3 (Man1 Associated with Osteopoikilosis and Late-Onset Generalized Morphea: A New Buschke-Ollendorf Syndrome Variant

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Benjamin Korman

2016-01-01

Full Text Available Introduction. Buschke-Ollendorf syndrome (BOS is an uncommon syndrome characterized by osteopoikilosis and other bone abnormalities, accompanied by skin lesions, most frequently connective tissue nevi. BOS is caused by mutations in the LEMD3 gene, which encodes the inner nuclear membrane protein Man1. We describe a unique case of osteopoikilosis associated with late-onset localized scleroderma and familial LEMD3 mutations. Case Report. A 72-year-old woman presented with adult-onset diffuse morphea and bullous skin lesions. Evaluation revealed multiple hyperostotic lesions (osteopoikilosis suggestive of BOS. DNA sequencing identified a previously undescribed nonsense mutation (Trp621X in the LEMD3 gene encoding Man1. Two additional family members were found to have osteopoikilosis and carry the same LEMD3 mutation. Conclusions and Relevance. We report a unique familial LEMD3 mutation in an individual with osteopoikilosis and late-onset morphea. We propose that this constellation represents a novel syndromic variant of BOS.

Can treatment of nocturia increase testosterone level in men with late onset hypogonadism?

Science.gov (United States)

Kim, Jong Wook; Chae, Ji Yun; Kim, Jin Wook; Yoon, Cheol Yong; Oh, Mi Mi; Park, Hong Seok; Kim, Je Jong; Moon, Du Geon

2014-04-01

To assess the effect of desmopressin on serum testosterone level in men with nocturia and late onset hypogonadism. We prospectively enrolled men with nocturia and symptoms of late onset hypogonadism. Desmopressin (0.1 mg) was administered once daily to patients for 12 weeks, and we then compared serum testosterone levels, electrolytes, frequency volume chart indices, and changes in the International Prostate Symptom Score (IPSS), International Index of Erectile Function, and Aging Male's Symptom scales before and after treatment. Patients with a history of cardiovascular disease or hyponatremia, those using hypnotics, and those who had primary hypogonadism or hypogonadotrophic hypogonadism were excluded from the study. Sixty-two men (mean age, 68.4 years) completed pre- and post-treatment questionnaires and underwent laboratory testing. At the end of the study, the testosterone levels in men with low testosterone levels (treatment (2.85 ± 0.58 to 3.97 ± 1.44 ng/mL; P = .001). Mean scores had decreased from 17.7 to 13.9 (IPSS), 3.8 to 3.2 (IPSS-Quality of Life), and 33.7 to 31.1 (Aging Male's Symptom). On the frequency volume chart, nocturnal urine volume, nocturnal polyuria index, actual number of nocturia events, nocturia index, and nocturnal bladder capacity index were significantly decreased. Desmopressin improved nocturia and other urinary symptoms. Moreover, serum testosterone levels increased significantly in men with low testosterone levels after 12-week desmopressin treatment. Copyright © 2014 Elsevier Inc. All rights reserved.

Late-Onset PTSD in Unaccompanied Refugee Minors: Exploring the Predictive Utility of Depression and Anxiety Symptoms

Science.gov (United States)

Smid, Geert E.; Lensvelt-Mulders, Gerty J. L. M.; Knipscheer, Jeroen W.; Gersons, Berthold P. R.; Kleber, Rolf J.

2011-01-01

Following resettlement in Western countries, unaccompanied refugee minors (URM) are at risk of developing posttraumatic stress disorder (PTSD). It is unclear to what extent PTSD in this group may become manifest at later stages following resettlement and which factors are associated with late onset. We examined data from URM collected 1 (T1) and 2…

A Rare Cutaneous Adnexal Tumor: Malignant Proliferating Trichilemmal Tumor

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Omer Alici

2015-01-01

Full Text Available Proliferating trichilemmal tumors (PTTs are neoplasms derived from the outer root sheath of the hair follicle. These tumors, which commonly affect the scalp of elderly women, rarely demonstrate malignant transformation. Although invasion of the tumors into neighboring tissues and being accompanied with anaplasia and necrosis are accepted as findings of malignancy, histological features may not always be sufficient to identify these tumors. The clinical behavior of the tumor may be incompatible with its histological characteristics. Squamous-cell carcinoma should certainly be considered in differential diagnosis because of its similarity in morphological appearance with PTT. Immunostaining for CD34, P53, and Ki-67 is a useful adjuvant diagnostic method that can be used in differential diagnosis aside from morphological findings. In this study, we aimed to present the case of a 52-year-old female patient with clinicopathological features. We reported a low-grade malignant proliferating trichilemmal tumor in this patient and detected no relapse or metastasis in a 24-month period of follow-up.

Risk factors for new-onset late postpartum preeclampsia in women without a history of preeclampsia.

Science.gov (United States)

Bigelow, Catherine A; Pereira, Guilherme A; Warmsley, Amber; Cohen, Jennifer; Getrajdman, Chloe; Moshier, Erin; Paris, Julia; Bianco, Angela; Factor, Stephanie H; Stone, Joanne

2014-04-01

Risk factors for the development of new-onset late postpartum preeclampsia (LPP) in women without any history of preeclampsia are not known. Because identification of women who are at risk may lead to an earlier diagnosis of disease and improved maternal outcomes, this study identified risk factors (associated patient characteristics) for new-onset LPP. A case-control study of 34 women with new-onset LPP and 68 women without new-onset LPP after normal delivery, who were matched on date of delivery, was conducted at Mount Sinai Hospital, New York, NY. Data were collected by chart review. Exact conditional logistic regression identified patient characteristics that were associated with new-onset LPP. New-onset LPP was associated with age ≥40 years (adjusted odds ratio, 24.83; 95% confidence interval [CI], 1.43-infinity; P = .03), black race (adjusted odds ratio, 78.35; 95% CI, 7.25-infinity; P infinity; P = .001), final pregnancy body mass index of ≥30 kg/m(2) (adjusted odds ratio, 13.38; 95% CI, 1.87-infinity; P = .01), and gestational diabetes mellitus (adjusted odds ratio, 72.91; 95% CI, 5.52-infinity; P < .001). As predictive tests for new-onset LPP, the sensitivity and specificity of having ≥1 of these characteristics was 100% and 59%, respectively, and the sensitivity and specificity of having ≥2 was 56% and 93%, respectively. Older age, black race, Latino ethnicity, obesity, and a pregnancy complicated by gestational diabetes mellitus all are associated positively with the development of new-onset LPP. Closer observation may be warranted in these populations. Copyright © 2014 Mosby, Inc. All rights reserved.

PRIMARY MALIGNANT MELANOMA OF ARYEPIGLOTTIC FOLD

African Journals Online (AJOL)

2015-12-01

Dec 1, 2015 ... commonly in larynx, tongue, and tonsil.2 Primary mel- anoma of the larynx and trachea are very rare among the group of non-cutaneous melanomas. In primary melanoma of the larynx, the least common site is the subglottic mucosa.3 Here we present a case of primary malignant melanoma of aryepiglottic ...

Stereological estimation of nuclear volume in benign and malignant melanocytic lesions of the skin. Inter- and intraobserver variability of malignancy grading

DEFF Research Database (Denmark)

Sørensen, Flemming Brandt; Ottosen, P D

1991-01-01

The volume-weighted, mean nuclear volume (nuclear vv) may be estimated without any assumptions regarding nuclear shape using modern stereological techniques. As a part of an investigation concerning the prospects of nuclear vv for classification and malignancy grading of cutaneous melanocytic tum...

Guidelines for the Diagnosis and Treatment of Cutaneous Mastocytosis in Children

Science.gov (United States)

Castells, Mariana; Metcalfe, Dean D.; Escribano, Luis

2012-01-01

Mastocytosis is a disease with many variants, all of which are characterized by a pathologic increase in mast cells in cutaneous tissue and extracutaneous organs such as the bone marrow, liver, spleen and lymph nodes. The disease presents in two primary age-related patterns: pediatric-onset mastocytosis and adult-onset mastocytosis, which may differ in their clinical manifestations and disease course. Pediatric-onset mastocytosis commonly is diagnosed prior to 2 years of age, and usually consists of cutaneous disease, with urticaria pigmentosa (UP) the most common pattern. The course of pediatric-onset mastocytosis is variable. This is in contrast to adult onset disease which generally presents with systemic findings and increases in extent and severity over time. Because pediatric forms of mastocytosis often differ in presentation and prognosis from adult variants, it is most important to understand pediatric mastocytosis and not rely on adult approaches as a guide on how to identify and manage disease. This is especially important in selecting therapy where antiproliferative agents have a very different set of concerns when used to treat adult mastocytosis compared to pediatric mastocytosis, especially in terms of long-term toxicity. This review is directed at providing age-specific information surrounding the care of the child with mastocytosis. PMID:21668033

[Clinical and neurologic characteristic and principles of therapy of late-onset Myasthenia gravis].

Science.gov (United States)

Kosachev, V D; Alekseeva, T M; Khalmurzina, A N

2016-01-01

In the present work the results of the clinic-epidemiological analysis of 223 patients with the onset of the myasthenia at 60 y. o. and later, admitted and treated in the clinic of neurology for the passed 25years are represented. A dynamic growth of incidence of the late-onset myasthenia through the passed 10 years was administered. We administered a prevalence of the generalized form of the myasthenia gravis (61,5 %). The whole clinical table of the myasthenia was developed during an year in 76,7 % of the cases. A wide range of the concomitant somatic pathology in this group of the patients (especially, with a cardio-vascular pathology - 93,3 %) was found to worsen the course of the myasthenia itself. We found that the set of the therapeutic measures in myasthenia in the elderly is determined by the course of the myasthenia and the multiple organ failure due to the concomitant diseases. The scheme of complex corrective therapy of myasthenia gravis in elderly was developed.

Late-onset hypogonadism: etiology, clinical features, diagnostics, treatment

Directory of Open Access Journals (Sweden)

E. Yu. Pashkova

2015-04-01

Full Text Available In a critical review of the literature current data concerning etiology, clinical features, diagnostics, treatment of late-onset hypogonadism (LOH are given. LOH is a multidisciplinary problem, because a patient with LOH can have osteoporosis, anemia, depression, obesity, diabetes mellitus, erectile dysfunction. Sometimes it is hard to realize that all this complaints are symptoms of LOH. LOH has a negative impact on a patient,s quality of life and it,s impossible to help without androgen replacement therapy. Furthermore doctors often have doubts about testosterone replacement therapy safety because of lack of accurate information. In a convenient for medical practitioners form clinical and laboratory diagnostic criteria of LOH are presented together with formulas for conversion from one measurement unit of main sex hormones into another. Based on latest ISSAM guidelines (International Society for the Study of the Aging Male modern treatment options of LOH are summarized, full information about available testosterone preparations (oral, transdermal, injectable with comparative analysis of advantages and disadvantages of each is given. A full description of indications and contraindications for androgen replacement treatment is presented, also treatment regimen and medical supervision algorithm during treatment are described. 

Late-onset hypogonadism: etiology, clinical features, diagnostics, treatment

Directory of Open Access Journals (Sweden)

E. Yu. Pashkova

2015-01-01

Full Text Available In a critical review of the literature current data concerning etiology, clinical features, diagnostics, treatment of late-onset hypogonadism (LOH are given. LOH is a multidisciplinary problem, because a patient with LOH can have osteoporosis, anemia, depression, obesity, diabetes mellitus, erectile dysfunction. Sometimes it is hard to realize that all this complaints are symptoms of LOH. LOH has a negative impact on a patient,s quality of life and it,s impossible to help without androgen replacement therapy. Furthermore doctors often have doubts about testosterone replacement therapy safety because of lack of accurate information. In a convenient for medical practitioners form clinical and laboratory diagnostic criteria of LOH are presented together with formulas for conversion from one measurement unit of main sex hormones into another. Based on latest ISSAM guidelines (International Society for the Study of the Aging Male modern treatment options of LOH are summarized, full information about available testosterone preparations (oral, transdermal, injectable with comparative analysis of advantages and disadvantages of each is given. A full description of indications and contraindications for androgen replacement treatment is presented, also treatment regimen and medical supervision algorithm during treatment are described. 

Late-onset anaphylaxis due to poly (γ-glutamic acid) in the soup of commercial cold Chinese noodles in a patient with allergy to fermented soybeans (natto).

Science.gov (United States)

Inomata, Naoko; Chin, Keishi; Nagashima, Mayumi; Ikezawa, Zenro

2011-09-01

Fermented soybeans (natto) have been reported to induce IgE-mediated, late-onset anaphylaxis without early-phase responses. However, the relevant allergens of natto allergy have never been identified. A 38-year-old man developed an anaphylactic reaction accompanied by flashing, generalized urticaria, conjunctival redness, and dyspnea 3 hours after ingestion of commercial cold Chinese noodles. He had avoided natto for the past year due to developing several anaphylactic reactions half a day after natto ingestion. The results of skin prick tests (SPTs) were strongly positive for natto and the soup of cold Chinese noodles. Furthermore, SPTs showed positive for poly (γ-glutamic acid) (PGA), which is a major constituent of natto mucilage, alone among all the ingredients of the cold Chinese noodle soup. Therefore, he was diagnosed with late-onset anaphylaxis to PGA contained in natto and the cold Chinese noodle soup. These results indicated that in the present case, the relevant allergen of late-onset anaphylaxis may have been PGA in all episodes and that the patient had been sensitized by PGA through natto ingestion. PGA is produced by Bacillus subtilis during fermentation and is a high-molecular, biodegradable polymer. The late onset is therefore, hypothesized to be due to a delayed absorption of PGA, as PGA biodegrades to peptides sufficiently small to be absorbed in the bowel. PGA has recently been applied to a wide range of fields such as foods, cosmetics, and medicine. Therefore, patients with late-onset anaphylaxis to PGA of natto should avoid not only natto but also other materials containing PGA.

Cutaneous adverse reactions of chemotherapy in cancer patients: A clinicoepidemiological study

Directory of Open Access Journals (Sweden)

Saumita Ghosh Biswal

2018-01-01

Full Text Available Background: The diagnosis of cutaneous adversities in the cancer patient is especially difficult, given the complexity of their illness and combination protocols used for the treatment. The present study was undertaken to know the spectrum of cutaneous adversities in patients undergoing chemotherapy and the drug(s most commonly associated with it. Materials and Methods: A total of 1000 patients with malignancies under chemotherapy in the oncology ward and outpatient department were screened in this observational study from January 2013 to February 2015. Relevant investigations for diagnosis of malignancies under chemotherapy and dermatological disorders were carried out. Results: Three hundred and eighty-four patients presented with cutaneous adversities of chemotherapy. The most common was anagen effluvium (78.6%, followed by xerosis (4.4%, thrombophlebitis (3.1%, generalised pruritus (2.9%, melanonychia (2.9%, hand-foot syndrome (2.6%, extravasation reactions (1.8%, flagellate dermatosis (1.3%, prurigo nodularis (0.8%, exfoliation (0.5%, ichthyosis (0.5%, papulopustular rash (0.3%, bullous photodermatitis (0.3%, and Sweet's syndrome (0.3%. Chemotherapeutic drugs were mostly given in combinations. Most common drugs to cause anagen effluvium were alkylating agents in combinations, hand-foot syndrome by taxanes (docetaxel, flagellate dermatoses by antitumour antibiotics (bleomycin, and exfoliation by antimetabolites (methotrexate. The limitation of this study was to imply a specific drug as the causation of the cutaneous adversities since the chemotherapy mostly consisted of combination protocols. Therefore, we have tried to associate the drug combination itself. Conclusion: Chemotherapeutic drugs produce a range of cutaneous adversities, certain specific adversities pertaining to drugs, and their combinations have been implicated which should be looked for and managed accordingly. Knowledge of the adverse effects of anticancer drugs will help

Acute Neonatal Parotitis with Late-Onset Septic Shock due to Streptococcus agalactiae

Directory of Open Access Journals (Sweden)

M. Boulyana

2014-01-01

Full Text Available Acute neonatal parotitis (ANP is a very rare disease. Most cases are managed conservatively; early antibiotics and adequate hydration may reduce the need for surgery. The most common cause of ANP is Staphylococcus aureus. We report a rare case of acute neonatal parotitis with late-onset septic shock due to Streptococcus agalactiae. The diagnosis was confirmed with ultrasound and isolation of Streptococcus agalactiae from blood culture. The patient was treated successfully with 10 days of intravenous antibiotics and supportive measures. Despite being rare, streptococcal ANP should be considered in the etiological diagnosis of neonatal sepsis. Early diagnosis and appropriate antibiotic might prevent serious complications.

Giant cutaneous horn in an African woman: a case report

Directory of Open Access Journals (Sweden)

Nthumba Peter M

2007-12-01

Full Text Available Abstract Introduction A cutaneous horn is a conical projection of hyperkeratotic epidermis. Though grossly resembling an animal horn, it lacks a bony core. These lesions have been well described in Caucasian patients, as well as in a number of Arabic and Asian patients. Case presentation A young female presented with a large 'horn' of five-year duration, arising from a burn scar. Excision and scalp reconstruction were performed. Histology was reported as verrucoid epidermal hyperplasia with cutaneous horn. Conclusion This may be the first documentation of this lesion in a black African. Although likely rare, it should be considered in the differential diagnosis of dermatologic lesions. Up to 40% of cutaneous horns occur as part of a premalignant or malignant lesion, and surgical extirpation with histological examination is thus more important than the curiosity surrounding these lesions.

Evidence for a genetic etiology of early-onset delinquency.

Science.gov (United States)

Taylor, J; Iacono, W G; McGue, M

2000-11-01

Age at onset of antisocial behavior discriminates persistent and transitory offenders. The authors proposed that early-onset delinquency has an underlying genetic influence that manifests in problems related to inhibition, whereas late-onset delinquency is more environmentally mediated. To test these notions, they selected 36 early starters, 86 late starters, and 25 nondelinquent controls from a large sample of 11-year-old twins and compared them on several measures related to inhibition and a peer group measure. As expected, early starters had more psychological, behavioral, and emotional problems related to inhibition than late starters and controls. A longitudinal analysis indicated an increase an antisocial behavior among peers of late starters shortly before their delinquency onset. Family history data and a twin analysis provided evidence of greater genetic influence on early-onset than late-onset delinquency.

Late onset MELAS with m.3243A > G mutation and its association with aneurysm formation.

Science.gov (United States)

Zhu, Kun; Li, Shuang; Chen, Huan; Wang, Yao; Yu, Miao; Wang, Hongyan; Zhao, Weijie; Cao, Yunpeng

2017-08-01

We reported a 53-year-old with late-onset mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) accompanied by aneurysm and large vessel dilations. Most studies have focused on microangiopathy causing stroke-like episodes. We report a case to describe large vessel involvement in clinical considerations, and possible mechanisms of aneurysm formation. We recommended regular angiographic examination for patients with MELAS.

Mast cells in cutaneous tumors: innocent bystander or maestro conductor?

Science.gov (United States)

Biswas, Asok; Richards, Joanna E; Massaro, Joseph; Mahalingam, Meera

2014-07-01

Evidence favoring a critical role for mast cells (MC) in cutaneous malignancies is conflicting. Using the immunohistochemical stain tryptase, MC counts were performed in the following tumor categories: epithelial (basal cell carcinoma [BCC]: nodular [N], n = 10, infiltrative [I], n = 10; squamous cell carcinoma [SCC]: well differentiated [W], n = 9, moderate/poorly differentiated [MP], n = 15); melanocytic (intradermal nevus, n = 10, malignant melanoma in situ [MMIS], n = 8, invasive melanoma, n = 15); vascular (hemangioma [HEM], n = 11, Kaposi's sarcoma [KS], n = 14, angiosarcoma [AS] n = 8); and fibrohistiocytic (dermatofibroma [DF], n = 7, atypical fibroxanthoma [AFX], n = 5, dermatofibrosarcoma protuberans [DFSP], n = 5). MC (intra- and peritumoral) were expressed as cells per 10 high-power fields. Mean MC counts were: BCCN 166.30; BCCI 130; SCCW 167.22; SCCMP 133.80; nevus 156.40; MMIS 93; MM radial growth phase 73.86; MM vertical growth phase 82.13; HEM 165.18; KS 120.57; AS 168.13; DF 247.86; AFX 280.20; and DFSP 83.60. Using a one-way analysis of variance, statistically significant differences were observed in the following pairs: AFX and DF vs. DFSP, nevus vs. melanoma, AS and HEM vs. Our findings appear to point towards a dichotomous role for mast cells in fibrohistiocytic and vascular neoplasms and argue against their preferential recruitment in epithelial malignancies and malignant melanoma. The value of mast cell counts as a prognostic index appears to be limited in most cutaneous malignancies. © 2013 The International Society of Dermatology.

Relationships between cognitive impairment on ADAS-cog and regional cerebral blood flow using SPECT in late-onset Alzheimer's disease.

Science.gov (United States)

Takahashi, Michio; Oda, Yasunori; Okubo, Toshiyuki; Shirayama, Yukihiko

2017-09-01

The aim of this study was to examine brain hypoperfusion and its relationship with cognitive dysfunction in late-onset Alzheimer's disease (AD). Forty patients with late-onset AD and not receiving acetylcholinesterase inhibitors were recruited from outpatient clinics. We examined cognitive function using the Alzheimer's Disease Assessment Scale-cognitive subscale (ADAS-cog) and brain perfusion using single-photon emission computed tomography, and analyzed classified gyrus level segments with three-dimensional stereotactic surface projection and the stereotactic extraction estimation method level 3. ADAS-cog subscales were grouped into three domains: language, memory, and praxis. Patients with late-onset AD showed an apparent reduction in regional cerebral blood flow (rCBF) with a z score >1.5 in the frontal, temporal, and limbic lobes, with lesser reduction in the parietal and occipital lobes. Although hypoperfusion in the orbital, rectal, and subcallosal gyri of the frontal lobe was prominent, rCBF in the inferior frontal gyrus of the frontal lobe was significantly correlated with ADAS-cog total and language and praxis subscale scores. The parahippocampal gyrus of the limbic lobe was also significantly correlated with the ADAS-cog total, language, and praxis subscale scores. Additionally, the cingulate of the limbic lobe was significantly related with ADAS-cog memory. In spite of lesser hypoperfusion, the posterior cingulate gyrus of the limbic lobe was significantly related with ADAS-cog total, language, and memory subscale scores. Further, each subdivision of ADAS-cog was found to be related with various brain regions.

Radiotherapy for cutaneous cancers with xeroderma pigmentosum; Radiotherapie des cancers cutanes au cours du xeroderma pigmentosum

Energy Technology Data Exchange (ETDEWEB)

Ben Salah, H.; Bahri, M.; Turki, H.; Abdelmoula, M.; Frikha, M.; Daoud, J. [Service de radiotherapie, CHU Habib-Bourguiba, route Majida-Bouleila, 3029 Sfax (Tunisia)

2011-08-15

Purpose. - To analyze the therapeutic results of cutaneous cancers on xeroderma pigmentosum through a series of 15 patients treated by radiotherapy. Patients and methods. - Between 1993 and 2006, 15 patients with xeroderma pigmentosum and having cutaneous cancers were treated in the Radiotherapy Department of university hospital Habib-Bourguiba of Sfax in Tunisia. Seventy-three percent of the cases occurred in male patients and the mean age of appearance of the first tumour was 18.2 years. Tumour histology was squamous cell carcinoma in 74% of the cases. The total number of cutaneous tumours was 84. Ten patients had a surgical resection. Four patients did not respond to chemotherapy. The modality of irradiation was decided according to the size, thickness and localization of the tumour. The dose of radiotherapy was 60 Gy or equivalent with classic irradiation. Results. - The total number of lesions treated with radiotherapy was 64. Forty-three lesions were treated with contact-therapy, ten with brachytherapy and 11 with cobalt-therapy. The following acute complications were observed: cutaneous infection (53.3% of patients), radio-epithelitis (80% of patients) and necroses (33.3% of patients). Evaluation after treatment showed a clinical complete remission in 73% of the cases. Late effects were noted in seven cases: telangiectasia and cutaneous atrophy. A recurrence in the irradiated zone was observed in one case. A nodal metastasis was observed in two cases. Another patient presented lung metastases. After a median follow up of 37.2 months, four patients died, seven are alive with cutaneous cancer and four are alive with complete remission. Conclusion. - Radiotherapy is a possible and effective therapeutic alternative. Dose and methods are not defined for xeroderma pigmentosum. (authors)

Malignancy risk prediction for primary jejunum-ileal tumors

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MARQUES Ruy Garcia

2000-01-01

Full Text Available This work is aimed at identifying factors associated with primary jejunum-ileal tumors malignancy, defining a prediction model with sensitivity, specificity and accuracy to distinguish malign from benign neoplasms. These tumors are rare, have highly unspecific presentation and, frequently, are diagnosed late. We reviewed the charts of 42 patients with primary jejunum-ileal tumors treated in the Department of General Surgery of Rio de Janeiro State University Hospital, Rio de Janeiro, RJ, Brazil, from 1969 to 1998. We performed bivariate analyses, based on chi² test, searching associations between tumors malignancy and demographic and clinical variables. Then logistic regression was employed to consider the independent effect of variables previously identified on malignancy risk. The malign tumors included 11 adenocarcinomas, 7 leiomyosarcomas, 5 carcinoids and 4 lymphomas; the benign tumors included 10 leiomyomas, 2 hamartomas, and single cases of adenoma, multiple neurilemoma and choristoma. The bivariate analyses indicated the association between malignancy and palpable abdominal mass (P = 0.003, period from signs and symptoms onset to diagnosis (P = 0.016, anemia (P = 0.020, anorexia (P = 0.003, abdominal pain (P = 0.031, weight loss (P = 0.001, nausea and vomit (P = 0.094, and intestinal obstruction (P = 0.066; no association with patients demographic characteristics were found. In the final logistic regression model, weight loss, anemia and intestinal obstruction were statistically associated with the dependent variable of interest. Based only on three variables -- weight loss, anemia and intestinal obstruction -- the model defined was able to predict primary jejunum-ileal tumors malignancy with sensitivity of 85.2%, specificity of 80.0%, and accuracy of 83.3%.

[Final height in symptomatic boys with late-onset adrenal hyperplasia (LOCAH), treated with glucocorticoids. Clinical cases].

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Pasqualini, Titania; Alonso, Guillermo; Fernández, Cecilia; Buzzalino, Noemí; Dain, Liliana

2013-04-01

Although corticoid replacement is recommended for those late-onset adrenal hyperplasia with clinical manifestations, asymptomatic patients do not need treatment. We describe clinical features at diagnosis, treatment, and growth till adult- height, in 4 boys. At diagnosis, age ranged from 9.2-11.6 years. The initial symptoms/signs were: precocious pubarche (n = 2), accelerated bone age (n = 1) and precocious puberty (n = 1). All of them presented elevated 17 hydroxyprogesterone levels and were compound heterozygotes carrying p.V281L mutation. Since, at diagnosis, bone age was significantly advanced for chronological age (13.1 ± 0.5 vs. 10.2 ± 1.1 p = 0.008), hydrocortisone therapy was initiated. During follow-up, mean height Z score decreased 1.4 ± 0.4 SDS (p = 0.007), though adult mean height was not different from target height (-0.39 ± 0.7 vs. -0.04 ± 0.5 SDS, p = 0.054). In conclusion, in 4 symptomatic patients, accurate treatment of late-onset adrenal hyperplasia led to an adult mean height not different from target height. Advanced bone age at diagnosis and the loss of height during pubertal development suggest the need of therapy.

Regional neuro axonal injury detected by 1H 3 Tesla spectroscopic imaging in late onset Tay sachs

International Nuclear Information System (INIS)

Gagoski, Borjan Aleksandar; Eichler, Florian S.

2010-01-01

Late-onset Tay Sachs (LOTS) is a rare lysosomal storage disorder resulting from mutations of the subunit of the lysosomal enzyme β-hexosaminidase A, which catalyzes the degradation of GM2 ganglioside. We have applied the fast encoding spectroscopic imaging technique to LOTS patients to further investigate the neuro degenerative consequences of this disease.(Author)

Anti-Ge3 causes late-onset hemolytic disease of the newborn: the fourth case in three Hispanic families.

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Pate, Lisa Lee; Myers, Jessica C; Palma, Jonathan P; Viele, Maurene; Galel, Susan A; Ferrer, Zenaida; Gonzalez, Christopher L; Benitz, William E; Garratty, George; Fontaine, Magali J

2013-10-01

The Gerbich (Ge) blood group system consists of 11 antigens carried on red blood cell (RBC) membrane glycophorins C and D; of these, Ge:3 antigen is of high prevalence, and the anti-Ge3 is found to be clinically significant. A 34-week neonate born to a Hispanic mother with anti-Ge3 developed late-onset hemolysis with hyperbilirubinemia and was successfully treated with transfusions from her mother. Relevant clinical findings and laboratory results for this case are summarized and compared to three other previously reported cases; all babies were born from a mother of Hispanic ethnicity. Hemolytic disease of the fetus and new born associated with anti-Ge3 is rare but should be considered when working up a broadly reactive RBC antibody screen in women of Hispanic ethnicity. Early identification of pregnant women with anti-Ge3 is recommended for prenatal transfusion planning and close monitoring of the newborn infant for evidence of late-onset anemia. © 2012 American Association of Blood Banks.

On a Rare Cutaneous Metastasis from a Sacrococcygeal Chordoma

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Alessandro D’Amuri

2017-01-01

Full Text Available Chordomas are rare malignant tumors of notochordal origin and are rare locally aggressive ones with a metastatic potential. The skin rarely is seen as metastatic site. We describe a case of an adult woman with cutaneous metastasis of a primary sacral chordoma excised ten years before, which appeared as a painless cutaneous mass located in the dorsal region. Once removed, the surgical specimen was formalin fixed and in paraffin embedded. Sections were stained with haematoxylin-eosin, and histochemical and immunohistochemical investigations were performed. Histologically, the neoplasia was characterized by cords or single tumor cells with an abundant myxoid stroma, conspicuous pale vacuolated cytoplasm (the classic “physaliphorous cells”, and mild nuclear atypia. Mitotic activity was scanty. At immunohistochemistry, the tumor cells were diffusely positive for S-100 protein, pan-keratins, EMA, and vimentin. A diagnosis of cutaneous metastasis of chordoma was performed. This case illustrates a diagnostic challenge because of the unusual presentation of an already rare tumor.

Identifying Risk Factors for Late-Onset (50+) Alcohol Use Disorder and Heavy Drinking

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Emiliussen, Jakob; Nielsen, Anette Søgaard; Andersen, Kjeld

2017-01-01

databases: MEDLINE, EMBASE, PubMed, and PsychInfo. Nine studies were included in the final review. Results: The search revealed that only very few studies have been conducted. Hence, the evidence is limited but suggests that stress, role/identity loss, and friends’approval of drinking are associated...... base their conclusions on a certain preconception of older adults with alcohol problems, which leads to a rowof circular arguments. The factors that have been measured seem to have changed over time. Conclusion: There has been a lack of focus on the field of late-onset AUD since the 1970s, which...

Early and Late Onset Side Effects of Photodynamic Therapy

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Francesco Borgia

2018-01-01

Full Text Available Photodynamic Therapy (PDT is a non-invasive treatment successfully used for neoplastic, inflammatory and infectious skin diseases. One of its strengths is represented by the high safety profile, even in elderly and/or immuno-depressed subjects. PDT, however, may induce early and late onset side effects. Erythema, pain, burns, edema, itching, desquamation, and pustular formation, often in association with each other, are frequently observed in course of exposure to the light source and in the hours/days immediately after the therapy. In particular, pain is a clinically relevant short-term complication that also reduces long-term patient satisfaction. Rare complications are urticaria, contact dermatitis at the site of application of the photosensitizer, and erosive pustular dermatosis. Debated is the relationship between PDT and carcinogenesis: the eruptive appearance of squamous cell carcinoma (SCC in previously treated areas has been correlated to a condition of local and/or systemic immunosuppression or to the selection of PDT-resistant SCC. Here we review the literature, with particular emphasis to the pathogenic hypotheses underlying these observations.

Recommendations on the diagnosis, treatment and monitoring of late-onset hypogonadism in men - a suggested update.

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Lunenfeld, Bruno; Mskhalaya, George; Kalinchenko, Svetlana; Tishova, Yulia

2013-12-01

Recommendations on the diagnosis, treatment and monitoring of late-onset hypogonadism (LOH) in men were first published by ISSAM in 2002 In 2005, and, in 2008, updated recommendations were published in the International Journal of Andrology, the Journal of Andrology, the Aging Male and European Urology. Towards discussions at the next ISSAM/ESSAM meeting in Moscow, 29 November 2013, we suggest the following update.

The presence of dysplastic nevus remnants in malignant melanomas. A population-based study of 551 malignant melanomas.

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Hastrup, N; Osterlind, A; Drzewiecki, K T; Hou-Jensen, K

1991-08-01

We examined 512 malignant melanomas, representing all newly diagnosed cutaneous malignant melanomas, excluding lentigo maligna melanomas, from the period October 1, 1982 to March 31, 1985 occurring in the region of eastern Denmark in patients aged 20-79 years for the presence of dysplastic nevus remnants. Criteria for the diagnosis of a dysplastic nevus remnant include all the following changes (a) lentiginous or epithelioid melanocyte hyperplasia, (b) cytologic melanocyte atypia, (c) eosinophilic fibroplasia, (d) lamellar fibroplasia, and (e) lymphocytic infiltration in the dermis. Dysplastic nevus remnants were found in association with 34 (7%) of the evaluable 512 malignant melanomas. Fourteen (41%) of the remnants were of compound nevus type. In nine (27%) of the remnants, atypia was pronounced. Most (62%) dysplastic nevus remnants were contiguous to thin superficial spreading melanomas. We conclude from this population-based study that about 7% of malignant melanomas arise in prior dysplastic nevi.

Dancing in the dark? The status of late-onset Alzheimer's disease genetics.

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Bertram, L; Tanzi, R E

2001-10-01

Alzheimer's disease (AD) is a genetically complex and heterogeneous disorder. Recent estimates suggest that possibly over 70% of the genetic variance for the disease remains unaccounted for by apolipoprotein E (APOE) and the three known early-onset AD genes (APP, PSEN1, PSEN2). Specifically, one recent segregation analysis predicted the existence of up to four additional susceptibility genes having a similar or greater effect than APOE. However, most of the nearly three dozen putative AD loci proposed to date have only been inconsistently replicated in follow up analyses and more studies are necessary to distinguish false-positive findings from genuine signals. Novel AD genes will not only provide valuable clues for the development of novel therapeutic approaches, but will also allow the development of new genetic risk-profiling strategies that are an essential prerequisite for early prediction/prevention of this devastating disease. In this review, we will present a brief overview of analytic tools in complex disease genetics, as well as a summary of recent linkage and association findings indicating the existence of novel late-onset AD genes on chromosomes 12, 10, and 9.

A Rare Case of Zosteriform Cutaneous Metastasis from Breast Cancer

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Filiz Topaloğlu Demir

2017-03-01

Full Text Available Breast cancer is the most common cancer among women and the second leading cause of cancer deaths, after lung cancer. Cutaneous breast cancer metastases often develop as direct involvement and local spread and often manifest as solid painless nodules in the anterior chest wall. Internal malignant skin metastases rarely present like soft nodules, telangiectasia-like lesions, neoplastic alopecia, erysipeloides carcinoma, erythema annulare-like, herpetiformis or zosteriform, target-like, pyodermic and morphea-like lesions. In this article, we present a 49-year-old female patient describing a sensation of burning pain with erythematous papules and plaques in a zosteriform distribution. The diagnosis of zosteriform cutaneous metastases from a breast cancer was made. Majority of these cases may be misdiagnosed as herpes zoster infection and can be treated with antiviral drugs. Therefore, cutaneous metastases should be kept in mind in the differential diagnosis of lesions in zosteriform distribution.

7T T-2*-weighted magnetic resonance imaging reveals cortical phase differences between early- and late-onset Alzheimer's disease

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van Rooden, S.; Doan, N.T.; Versluis, M.J.; Goos, J.D.C.; Webb, A.G.; Oleksik, A.M.; van der Flier, W.M.; Scheltens, P.; Barkhof, F.; Weverlinge-Rynsburger, A.W.E.; Blauw, G. J.; Reiber, J.H.C.; van Buchem, M.A.; Milles, J.; van der Grond, J.

2015-01-01

The aim of this study is to explore regional iron-related differences in the cerebral cortex, indicative of Alzheimer's disease pathology, between early- and late-onset Alzheimer's disease (EOAD, LOAD, respectively) patients using 7T magnetic resonance phase images. High-resolution T

Onset and ending of the late Palaeozoic ice age triggered by tectonically paced rock weathering

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Goddéris, Yves; Donnadieu, Yannick; Carretier, Sébastien; Aretz, Markus; Dera, Guillaume; Macouin, Mélina; Regard, Vincent

2017-04-01

The onset of the late Palaeozoic ice age about 340 million years ago has been attributed to a decrease in atmospheric CO2 concentrations associated with expansion of land plants, as plants both enhance silicate rock weathering--which consumes CO2--and increase the storage of organic carbon on land. However, plant expansion and carbon uptake substantially predate glaciation. Here we use climate and carbon cycle simulations to investigate the potential effects of the uplift of the equatorial Hercynian mountains and the assembly of Pangaea on the late Palaeozoic carbon cycle. In our simulations, mountain uplift during the Late Carboniferous caused an increase in physical weathering that removed the thick soil cover that had inhibited silicate weathering. The resulting increase in chemical weathering was sufficient to cause atmospheric CO2 concentrations to fall below the levels required to initiate glaciation. During the Permian, the lowering of the mountains led to a re-establishment of thick soils, whilst the assembly of Pangaea promoted arid conditions in continental interiors that were unfavourable for silicate weathering. These changes allowed CO2 concentrations to rise to levels sufficient to terminate the glacial event. Based on our simulations, we suggest that tectonically influenced carbon cycle changes during the late Palaeozoic were sufficient to initiate and terminate the late Palaeozoic ice age.

Cytodiagnosis of cutaneous metastasis from renal cell carcinoma: A case report with review of literature

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Vishal Dhingra

2011-01-01

Full Text Available Cytodiagnosis of cutaneous metastasis of renal cell carcinoma (RCC in the absence of history of primary tumor is difficult as it can be confused with other clear cell tumors. We report here a case of cytodiagnosis of cutaneous metastasis of RCC in a patient who had nephrectomy done 9 years back at some other centre, but did not have any records with him. Clinicians should be aware of the possibility of primary internal organ malignancy in patients presenting with cutaneous lesions and therefore conduct a careful examination and get necessary investigations. Prompt diagnosis and treatment will have its bearing on the eventual outcome.

Psoriasis and risk of malignant lymphoma

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Kamstrup, M R; Skov, L; Zachariae, C

2018-01-01

In patients with psoriasis, the risk of lymphoma has been a subject of controversy and data from larger studies are limited1-4 . We therefore investigated the 5-year risk of new-onset Hodgkin lymphoma (HL), non-Hodgkin lymphoma (NHL) (excluding cutaneous T-cell lymphoma [CTCL]), and CTCL...

Conservative treatment for late-onset bleb leaks after trabeculectomy with mitomycin C in patients with ocular surface disease

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Sagara H

2012-08-01

Full Text Available Hideto Sagara,1,2 Tomohiro Iida,2,3 Kimimori Saito,4 Hiroki Noji,2 Masashi Ogasawara,2 Hiroshi Oyamada21The Marui Eye Clinic, Fukushima, 2Department of Ophthalmology, Fukushima Medical University School of Medicine, Fukushima, 3Tokyo Women's Medical University, Tokyo, 4Matuki Eye Clinic, Fukushima, JapanBackground: Sodium hyaluronate and autologous serum eye drops are used to treat ocular surface disease (OSD and are reported to prevent and treat late-onset bleb leaks following trabeculectomy with mitomycin C. In this study, we evaluated the efficacy of a combination of sodium hyaluronate and autologous serum eye drops and treatment for obstructive meibomian gland dysfunction as a therapy for late-onset bleb leaks after trabeculectomy with mitomycin C.Methods: This was a retrospective, interventional, nonsimultaneous study of 12 subjects (12 eyes of mean age of 64.3 ± 18.3 years with OSD and apparent late-onset bleb leaks following trabeculectomy with mitomycin C between 1998 and 2008. We compared patients diagnosed with leakages before July 2005, who had been treated with separate eye drop solutions containing 0.1% sodium hyaluronate, 50% autologous serum, and 0.3% ofloxacin (sodium hyaluronate and autologous serum group, n = 7, with patients diagnosed from August 2005 to December 2008, who were treated with a combination of eye drops (0.1% sodium hyaluronate, 50% autologous serum, and 0.08% levofloxacin hydrate and eyelid massage and warm compresses for obstructive meibomian gland dysfunction (combination eye drop group, n = 5.Results: Leakage was resolved in one patient (14.3% in the separately treated sodium hyaluronate and autologous serum eye drop group and in five patients (100% in the combination eye drop group (P = 0.015. The period after resolution of leakage with conservative treatment was 23 months in the one eye in the sodium hyaluronate and autologous serum group and 36–61 (mean 52.4 ± 10.1 months in the five eyes in the

Measuring Cutaneous Lesions: Trends in Clinical Practice.

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Zhang, Shali; Blalock, Travis W

2018-03-01

Knowing the size of a cutaneous lesion can be important for tracking its progression over time, selecting the proper treatment modality, surgical planning, determining prognosis, and accurate billing. However, providers vary in their consistency, accuracy, and methods of measuring cutaneous lesions. To investigate the clinical practices of US dermatologists and dermatologic surgeons regarding how they determine the size of cutaneous lesions. A survey was electronically distributed to members of the American Society for Dermatologic Surgery. Four hundred twenty-six dermatologists completed the online survey. When a lesion is suspected to be malignant, 85% of respondents obtained exact measurements most, if not all, of the time; however, only 8% did for benign lesions. Most providers determined lesion sizes themselves rather than delegating to staff. When performing visual estimation, approximately three-quarters believed that they were accurate to within 1 to 2 mm. The top reasons for obtaining exact measurements were for tracking atypical pigmented lesions, determining treatment pathways, and accurate billing. The majority of respondents believed that lesion size affected management decisions; however, the need for exact measurement remains controversial, particularly for benign lesions. Future studies may investigate whether taking exact versus estimated measurements has an effect on outcomes.

The cutaneous radiation syndrome: diagnosis and treatment; Le syndrome d'irradiation cutane, diagnostic et traitement

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Peter, R.U.; Steinert, M.; Gottlober, P. [Ulm Univ., Dept. of Dermatology (Germany)

2001-12-01

Accidental exposure to ionising radiation may occur during such catastrophic events as the Chernobyl accident in 1986 or for days and weeks as in Goiania in 1987 and in the military camp during the training of soldiers in Lilo/Georgia in 1997 as well as in medical institutions. The cutaneous symptoms after radiation exposure are based on a combination of inflammatory processes and alteration of cellular proliferation as a result of a specific pattern of transcriptionally activated pro-inflammatory cytokines and growth factors. They follow a time course consisting of prodromal erythema, manifestation, chronic stage, late stage and they are referred to as Cutaneous Radiation Syndrome. The time course depends on several factors such as the applied radiation dose, radiation quality, individual radiation sensitivity, the extent of contamination and absorption and volume of the skin. For diagnostics of the cutaneous radiation syndrome the following procedures are used: 7.5 MHz to 20 MHz-B-scan-sonography, thermography, capillary microscopy, profilometry, nuclear magnetic resonance imaging, bone scintigraphy and histology. Based on the results of experimental and clinical research of the last years pharmacotherapy of the cutaneous radiation syndrome includes topic or systemic application of corticosteroids, gamma-interferon, pentoxifylline and vitamin E and superoxide dismutase. The treatment depends on the stage of the cutaneous radiation syndrome. Due to the complexity of the clinical manifestations of radiation disease in most patients an interdisciplinary treatment in specialized centres is necessary. Dermatologists are asked to perform in most cases life-long therapy and follow-up of the patients. (author)

Vorinostat in solid and hematologic malignancies

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Richon Victoria M

2009-07-01

Full Text Available Abstract Vorinostat (Zolinza®, a histone deacetylase inhibitor, was approved by the US Food and Drug Administration in October 2006 for the treatment of cutaneous manifestations in patients with cutaneous T-cell lymphoma who have progressive, persistent or recurrent disease on or following two systemic therapies. This review summarizes evidence on the use of vorinostat in solid and hematologic malignancies and collated tolerability data from the vorinostat clinical trial program. Pooled vorinostat clinical trial data from 498 patients with solid or hematologic malignancies show that vorinostat was well tolerated as monotherapy or combination therapy. The most commonly reported drug-related adverse events (AEs associated with monotherapy (n = 341 were fatigue (61.9%, nausea (55.7%, diarrhea (49.3%, anorexia (48.1%, and vomiting (32.8%, and Grade 3/4 drug-related AEs included fatigue (12.0%, thrombocytopenia (10.6%, dehydration (7.3%, and decreased platelet count (5.3%. The most common drug-related AEs observed with vorinostat in combination therapy (n = 157, most of whom received vorinostat 400 mg qd for 14 days were nausea (48.4%, diarrhea (40.8%, fatigue (34.4%, vomiting (31.2%, and anorexia (20.4%, with the majority of AEs being Grade 2 or less. In Phase I trials, combinations with vorinostat were generally well tolerated and preliminary evidence of anticancer activity as monotherapy or in combination with other systemic therapies has been observed across a range of malignancies. Ongoing and planned studies will further evaluate the potential of vorinostat in combination therapy, including combinations with radiation, in patients with diverse malignancy types, including non-small-cell lung cancer, glioblastoma multiforme, multiple myeloma, and myelodysplastic syndrome.

Urine metabolomics in neonates with late-onset sepsis in a case-control study

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Sarafidis, Kosmas; Chatziioannou, Anastasia Chrysovalantou; Thomaidou, Agathi; Gika, Helen; Mikros, Emmanouel; Benaki, Dimitra; Diamanti, Elisavet; Agakidis, Charalampos; Raikos, Nikolaos; Drossou, Vasiliki; Theodoridis, Georgios

2017-04-01

Although late-onset sepsis (LOS) is a major cause of neonatal morbidity and mortality, biomarkers evaluated in LOS lack high diagnostic accuracy. In this prospective, case-control, pilot study, we aimed to determine the metabolic profile of neonates with LOS. Urine samples were collected at the day of initial LOS evaluation, the 3rd and 10th day, thereafter, from 16 septic neonates (9 confirmed and 7 possible LOS cases) and 16 non-septic ones (controls) at respective time points. Urine metabolic profiles were assessed using non-targeted nuclear magnetic resonance spectroscopy and targeted liquid chromatography-tandem mass spectrometry analysis. Multivariate statistical models with data from either analytical approach showed clear separation between the metabolic profiles of septic neonates (both possible and confirmed) and the controls. Metabolic changes appeared to be related to disease progression. Overall, neonates with confirmed or possible LOS exhibited comparable metabolic profiles indicating similar metabolic alternations upon the onset of clinical manifestations. This methodology therefore enabled the discrimination of neonates with LOS from non-septic individuals, providing potential for further research toward the discovery of LOS-related biomarkers.

Late Onset Combined Immunodeficiency Presenting with Recurrent Pneumocystis jiroveci Pneumonia

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Ilias Papakonstantinou

2014-01-01

Full Text Available Late onset combined immunodeficiency (LOCID is a recently described variant of common variable immunodeficiency (CVID, involving adult patients presenting with opportunistic infections and/or low CD4+ lymphocyte counts. A 36-year-old male with unremarkable past medical history presented with fever, respiratory failure, and lymphocytopenia. He was found to have Pneumocystis jiroveci pneumonia (PJP, subsequently complicated by recurrent hospital-acquired Pseudomonas aeruginosa pneumonia and immune reconstitution phenomena, attributed to restoration of immunoglobulin levels. Clinicians should be aware of LOCID, which could be confused with HIV infection/AIDS or idiopathic CD4 lymphocytopenia. In the English bibliography there is only one case report, where PJP was the initial presentation of CVID (that case would probably be classified as LOCID. Phenomena of immune reconstitution are described in various settings, including primary immunodeficiency, manifesting as temporary clinical and radiologic deterioration and leading to misperceptions of therapeutic failure and/or presence of alternative/additional diagnoses.

New function for an old enzyme: NEP deficient mice develop late-onset obesity.

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Matthias Becker

Full Text Available BACKGROUND: According to the World Health Organization (WHO there is a pandemic of obesity with approximately 300 million people being obese. Typically, human obesity has a polygenetic causation. Neutral endopeptidase (NEP, also known as neprilysin, is considered to be one of the key enzymes in the metabolism of many active peptide hormones. METHODOLOGY/PRINCIPAL FINDINGS: An incidental observation in NEP-deficient mice was a late-onset excessive gain in body weight exclusively from a ubiquitous accumulation of fat tissue. In accord with polygenetic human obesity, mice were characterized by deregulation of lipid metabolism, higher blood glucose levels, with impaired glucose tolerance. The key role of NEP in determining body mass was confirmed by the use of the NEP inhibitor candoxatril in wild-type mice that increased body weight due to increased food intake. This is a peripheral and not a central NEP action on the switch for appetite control, since candoxatril cannot cross the blood-brain barrier. Furthermore, we demonstrated that inhibition of NEP in mice with cachexia delayed rapid body weight loss. Thus, lack in NEP activity, genetically or pharmacologically, leads to a gain in body fat. CONCLUSIONS/SIGNIFICANCE: In the present study, we have identified NEP to be a crucial player in the development of obesity. NEP-deficient mice start to become obese under a normocaloric diet in an age of 6-7 months and thus are an ideal model for the typical human late-onset obesity. Therefore, the described obesity model is an ideal tool for research on development, molecular mechanisms, diagnosis, and therapy of the pandemic obesity.

Perceptions of stigma among people affected by early- and late-onset Alzheimer's disease.

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Ashworth, Rosalie

2017-07-01

The aim of this research was to explore perceptions of stigma among people with early- and late-onset Alzheimer's disease and those who support them, using questionnaires ( n = 44) and semi-structured interviews ( n = 14). Perceived stigma reporting was low in the questionnaires, whereas interviews revealed higher levels of perceived stigma in the form of unpredictable reactions to diagnosis, feeling stupid and ignorance of the condition among the public. Perceived stigma was managed in similar ways across age groups, focusing on 'being the lucky ones'. Results support the need to further tackle stigma and challenge expectations, particularly given the drive to diagnose people and thereby expose them to stigma.

WITHDRAWN: Systemic treatments for metastatic cutaneous melanoma.

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Crosby, Tom; Fish, Reg; Coles, Bernadette; Mason, Malcolm

2018-02-07

Systemic therapies for metastatic cutaneous melanoma, the most aggressive of all skin cancers, remain disappointing. Few lasting remissions are achieved and the therapeutic aim remains one of palliation.Many agents are used alone or in combination with varying degrees of toxicity and cost. It is unclear whether evidence exists to support these complex regimens over best supportive care / placebo. To review the benefits from the use of systemic therapies in metastatic cutaneous melanoma compared to best supportive care/placebo, and to establish whether a 'standard' therapy exists which is superior to other treatments. Randomised controlled trials were identified from the MEDLINE, EMBASE and CCTR/CENTRAL databases. References, conference proceedings, and Science Citation Index/Scisearch were also used to locate trials. Cancer registries and trialists were also contacted. Randomised controlled trials of adults with histologically proven metastatic cutaneous melanoma in which systemic anti-cancer therapy was compared with placebo or supportive care. Study selection was performed by two independent reviewers. Data extraction forms were used for studies which appeared to meet the selection criteria and, where appropriate, full text articles were retrieved and reviewed independently. No randomised controlled trials were found comparing a systemic therapy with placebo or best supportive care in metastatic cutaneous melanoma. There is no evidence from randomised controlled clinical trials to show superiority of systemic therapy over best supportive care / placebo in the treatment of malignant cutaneous melanoma.Given that patients with metastatic melanoma frequently receive systemic therapy, it is our pragmatic view that a future systematic review could compare any systemic treatment, or combination of treatments, to single agent dacarbazine.

A CTRP5 gene S163R mutation knock-in mouse model for late-onset retinal degeneration.

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Chavali, Venkata R M; Khan, Naheed W; Cukras, Catherine A; Bartsch, Dirk-Uwe; Jablonski, Monica M; Ayyagari, Radha

2011-05-15

Late-onset retinal macular degeneration (L-ORD) is an autosomal dominant inherited disorder caused by a single missense mutation (S163R) in the CTRP5/C1QTNF5 protein. Early phenotypic features of L-ORD include: dark adaptation abnormalities, nyctalopia, and drusen deposits in the peripheral macular region. Apart from posterior segment abnormalities, these patients also develop abnormally long anterior lens zonules. In the sixth decade of life the rod and cone function declines, accompanied by electroretinogram (ERG) abnormalities. Some patients also develop choroidal neovascularization and glaucoma. In order to understand the disease pathology and mechanisms involved in retinal dystrophy, we generated a knock-in (Ctrp5(+/-)) mouse model carrying the disease-associated mutation in the mouse Ctrp5/C1QTNF5 gene. These mice develop slower rod-b wave recovery consistent with early dark adaptation abnormalities, accumulation of hyperautofluorescence spots, retinal pigment epithelium abnormalities, drusen, Bruch's membrane abnormalities, loss of photoreceptors, and retinal vascular leakage. The Ctrp5(+/-) mice, which have most of the pathological features of age-related macular degeneration, are unique and may serve as a valuable model both to understand the molecular pathology of late-onset retinal degeneration and to evaluate therapies.

Effect of early and late rehabilitation onset in a chronic rat model of ischemic stroke- assessment of motor cortex signaling and gait functionality over time.

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Nielsen, Rasmus K; Samson, Katrine L; Simonsen, Daniel; Jensen, Winnie

2013-11-01

The aim of the present study was to investigate the effects of ischemic stroke and onset of subsequent rehabilitation of gait function in rats. Nine male Sprague-Dawley rats were instrumented with a 16-channel intracortical (IC) electrode array. An ischemic stroke was induced within the hindlimb area of the left motor cortex. The rehabilitation consisted of a repetitive training paradigm over 28 days, initiated on day one ("Early-onset", 5 rats) and on day seven, ("Late-onset", 4 rats). Data were obtained from IC microstimulation tests, treadmill walking tests, and beam walking tests. Results revealed an expansion of the hindlimb representation within the motor cortex area and an increased amount of cortical firing rate modulation for the "Early-onset" group but not for the "Late-onset" group. Kinematic data revealed a significant change for both intervention groups. However, this difference was larger for the "Early-onset" group. Results from the beam walking test showed functional performance deficits following stroke which returned to pre-stroke level after the rehabilitative training. The results from the present study indicate the existence of a critical time period following stroke where onset of rehabilitative training may be more effective and related to a higher degree of true recovery.

Pituitary stalk compression by the dorsum sellae: possible cause for late childhood onset growth disorders.

Science.gov (United States)

Taoka, Toshiaki; Iwasaki, Satoru; Okamoto, Shingo; Sakamoto, Masahiko; Nakagawa, Hiroyuki; Otake, Shoichiro; Fujioka, Masayuki; Hirohashi, Shinji; Kichikawa, Kimihiko

2006-06-01

The purpose of this study was to evaluate the relationship between pituitary stalk compression by the dorsum sellae and clinical or laboratory findings in short stature children. We retrospectively reviewed magnetic resonance images of the pituitary gland and pituitary stalk for 34 short stature children with growth hormone (GH) deficiency and 24 age-matched control cases. We evaluated the degree of pituitary stalk compression caused by the dorsum sellae. Body height, GH level, pituitary height and onset age of the short stature were statistically compared between cases of pituitary stalk compression with associated stalk deformity and cases without compression. Compression of the pituitary stalk with associated stalk deformity was seen in nine cases within the short stature group. There were no cases observed in the control group. There were no significant differences found for body height, GH level and pituitary height between the cases of pituitary stalk compression with associated stalk deformity and cases without compression. However, a significant difference was seen in the onset age between cases with and without stalk compression. Pituitary stalk compression with stalk deformity caused by the dorsum sellae was significantly correlated with late childhood onset of short stature.

Late-Onset Cryopyrin-Associated Periodic Syndromes Caused by Somatic NLRP3 Mosaicism—UK Single Center Experience

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Dorota M. Rowczenio

2017-10-01

Full Text Available Cryopyrin-associated periodic syndrome (CAPS is caused by gain-of-function NLRP3 mutations. Recently, somatic NLRP3 mosaicism has been reported in some CAPS patients who were previously classified as “mutation-negative.” We describe here the clinical and laboratory findings in eight British adult patients who presented with symptoms typical of CAPS other than an onset in mid-late adulthood. All patients underwent comprehensive clinical and laboratory investigations, including analysis of the NLRP3 gene using Sanger and amplicon-based deep sequencing (ADS along with measurements of extracellular apoptosis-associated speck-like protein with CARD domain (ASC aggregates. The clinical phenotype in all subjects was consistent with mid-spectrum CAPS, except a median age at disease onset of 50 years. Sanger sequencing of NLRP3 was non-diagnostic but ADS detected a somatic NLRP3 mutation in each case. In one patient, DNA isolated from blood demonstrated an increase in the mutant allele from 5 to 45% over 12 years. ASC aggregates in patients’ serum measured during active disease were significantly higher than healthy controls. This series represents 8% of CAPS patients diagnosed in a single center, suggesting that acquired NLRP3 mutations may not be an uncommon cause of the syndrome and should be sought in all patients with late-onset symptoms otherwise compatible with CAPS. Steadily worsening CAPS symptoms in one patient were associated with clonal expansion of the mutant allele predominantly affecting myeloid cells. Two patients developed AA amyloidosis, which previously has only been reported in CAPS in association with life-long germline NLRP3 mutations.

The course of functional status and muscle strength in patients with late-onset sequelae of poliomyelitis: A systematic review

NARCIS (Netherlands)

Stolwijk-Swüste, Janneke M.; Beelen, Anita; Lankhorst, Gustaaf J.; Nollet, Frans

2005-01-01

Stolwijk-SwUste JM, Beelen A, Lankhorst GJ, Nollet F, for the CARPA Study Group. The course of functional status and muscle strength in patients with late-onset sequelae of poliomyelitis: a systematic review. Arch Phys Med Rehabil 2005;86:1693-701. Objectives: To review systematically studies of

Psychological differences between early- and late-onset psoriasis: a study of personality traits, anxiety and depression in psoriasis.

Science.gov (United States)

Remröd, C; Sjöström, K; Svensson, A

2013-08-01

Onset of psoriasis may occur at any age. Early negative experiences often influence personality development, and may lead to physical disease, anxiety and depression in adulthood. Knowledge about onset of psoriasis and psychopathology is limited. To examine whether patients with early-onset psoriasis differ psychologically from patients with late-onset psoriasis, regarding personality traits, anxiety and depression. A descriptive cross-sectional study was conducted among 101 consecutively recruited outpatients with psoriasis. A psychosocial interview was performed followed by self-assessment of validated questionnaires: Swedish Universities Scales of Personality (SSP), Spielberger State-Trait Anxiety Inventory and Beck Depression Inventory. Psoriasis severity was assessed by the Psoriasis Area and Severity Index. Patients with early-onset psoriasis (age personality traits: SSP-embitterment, -trait irritability, -mistrust and -verbal trait aggression. Our results indicate that early detection of psychological vulnerability when treating children and adolescents with psoriasis seems to be of great importance. Traits of psychological vulnerability and pessimistic personality traits were found to be significantly associated with the early onset of psoriasis, but not with disease duration in this study. These traits may be seen as a consequence of psoriasis, and/or as individual traits modulating and impairing clinical course and efforts to cope with psoriasis. © 2013 The Authors BJD © 2013 British Association of Dermatologists.

Intermittent food restriction initiated late in life prolongs lifespan and retards the onset of age-related markers in the annual fish Nothobranchius guentheri.

Science.gov (United States)

Wang, Xia; Du, Xiaoyuan; Zhou, Yang; Wang, Su; Su, Feng; Zhang, Shicui

2017-06-01

Two of the most studied and widely accepted conjectures on possible aging mechanisms are the oxidative stress hypothesis and the insulin/insulin-like growth factor 1 (IGF-1) signaling (IIS) pathway. Intermittent fasting (IF) is known to modulate aging and to prolong lifespan in a variety of organisms, but the mechanisms are still under debate. In this study, we first demonstrated that late-onset two consecutive days a week fasting, a form of IF, termed intermittent food restriction (IFR), exhibited a time-dependent effect, and long-term late-onset IFR extended the mean lifespan and maximum lifespan by approximately 3.5 and 3 weeks, respectively, in the annual fish Nothobranchius guentheri. We also showed that IFR reduced the accumulation of lipofuscin in the gills and the protein oxidation and lipid peroxidation levels in the muscles. Moreover, IFR was able to enhance the activities of antioxidant enzymes catalase, glutathione peroxidase, and superoxide dismutase in the fish. Finally, IFR was also able to decelerate the decrease of SirT1 and Foxo3A, but accelerate the decrease of IGF-1. Collectively, our findings suggest that late-onset IFR can retard the onset of age-related markers, and prolong the lifespan of the aging fish, via a synergistic action of an anti-oxidant system and the IIS pathway. It also proposes that the combined assessment of anti-oxidant system and IIS pathway will contribute to providing a more comprehensive view of anti-aging process.

New cardiovascular targets to prevent late onset Alzheimer disease.

Science.gov (United States)

Claassen, Jurgen A H R

2015-09-15

The prevalence of dementia rises to between 20% and 40% with advancing age. The dominant cause of dementia in approximately 70% of these patients is Alzheimer disease. There is no effective disease-modifying pharmaceutical treatment for this neurodegenerative disease. A wide range of Alzheimer drugs that appeared effective in animal models have recently failed to show clinical benefit in patients. However, hopeful news has emerged from recent studies that suggest that therapeutic strategies aimed at reducing cardiovascular disease may also reduce the prevalence of dementia due to Alzheimer disease. This review summarizes the evidence for this link between cardiovascular disease and late onset Alzheimer dementia. Only evidence from human research is considered here. Longitudinal studies show an association between high blood pressure and pathological accumulation of the protein amyloid-beta42, and an even stronger association between vascular stiffness and amyloid accumulation, in elderly subjects. Amyloid-beta42 accumulation is considered to be an early marker of Alzheimer disease, and increases the risk of subsequent cognitive decline and development of dementia. These observations could provide an explanation for recent observations of reduced dementia prevalence associated with improved cardiovascular care. Copyright © 2015 Elsevier B.V. All rights reserved.

Differences between early and late onset adult depression

DEFF Research Database (Denmark)

Drachmann Bukh, Jens; Bock, Camilla; Vinberg, Maj

2011-01-01

episode depression were systematically recruited. Characteristics including psychiatric co-morbidity, personality disorders and traits, stressful life events prior to onset, family history, and treatment outcome were assessed by structured interviews and compared by chi-square tests for categorical data...... prevalence of co-morbid personality disorders, higher levels of neuroticism, and a lower prevalence of stressful life events preceding onset compared to patients with later age-of-onset. There were no differences in severity of the depressive episode, treatment outcome or family loading of psychiatric......, t-tests for continuous parametric data and Mann-Whitney U-test for continuous nonparametric data. Logistic and multiple regression analyses were used to adjust the analyses for potentially confounding variables. Results: Patients with early onset of depression were characterised by a higher...

Effect of antibiotic use on antimicrobial antibiotic resistance and late-onset neonatal infections over 25 years in an Australian tertiary neonatal unit.

Science.gov (United States)

Carr, David; Barnes, Elizabeth Helen; Gordon, Adrienne; Isaacs, David

2017-05-01

Antibiotic resistance is a worldwide problem. We describe 25 years of responsible antibiotic use in a tertiary neonatal unit. Data on neonatal infections and antibiotic use were collected prospectively from 1990 to 2014 at a single tertiary Sydney neonatal intensive care unit attached to a maternity unit. There are approximately 5500 deliveries and 900 nursery admissions per year. The mean annual rate of late-onset sepsis was 1.64 episodes per 100 admissions. The mean number of late-onset sepsis episodes per admission to the neonatal unit decreased by 4.0% per year (95% CI 2.6% to 5.4%; p<0.0001) and occurred particularly in infants born weighing <1500 g. No infants with negative cultures relapsed with sepsis when antibiotics were stopped after 48-72 hours. Antibiotic use decreased with time. The proportion of colonising methicillin-resistant Staphylococcus aureus isolates decreased by 7.4% per year (95% CI 0.2% to 14.1%; p=0.043). The proportion of colonising Gram-negative bacilli isolates resistant to either third-generation cephalosporins or gentamicin increased by 2.9% per year (95% CI 1.0% to 4.9%; p=0.0035). Most were cephalosporin-resistant; gentamicin resistance was rare. An average of one baby per year died from late-onset sepsis, the rate not varying significantly over time. The mortality from episodes of late-onset sepsis was 25 of 332 (7.5%). Stopping antibiotics after 2-3 days if neonatal systemic cultures are negative is safe. However, it does not prevent the emergence of cephalosporin-resistant Gram-negative organisms. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://www.bmj.com/company/products-services/rights-and-licensing/.

A Historical Cohort Study on the Efficacy of Glucocorticoids and Riboflavin Among Patients with Late-onset Multiple Acyl-CoA Dehydrogenase Deficiency

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Xin-Yi Liu

2016-01-01

Conclusions: Our results provide credible evidences that the overall efficacy of riboflavin is superior to glucocorticoids, and a longer duration of riboflavin treatment is necessary for patients with late-onset MADD.

Primary malignant head and neck tumours in Ghana: a survey of ...

African Journals Online (AJOL)

McRoy

Results: 2,041 of 4,546 reports were malignant. 1342 were ... Conclusion: We observed a rising incidence of head and neck .... head and neck cancer rose from 44 cases in ... Carcinosarcoma. 1. Clear cell tumour. 0. 1. Cutaneous lymphoma. 1.

Radiotherapy for cutaneous cancers with xeroderma pigmentosum

International Nuclear Information System (INIS)

Ben Salah, H.; Bahri, M.; Turki, H.; Abdelmoula, M.; Frikha, M.; Daoud, J.

2011-01-01

Purpose. - To analyze the therapeutic results of cutaneous cancers on xeroderma pigmentosum through a series of 15 patients treated by radiotherapy. Patients and methods. - Between 1993 and 2006, 15 patients with xeroderma pigmentosum and having cutaneous cancers were treated in the Radiotherapy Department of university hospital Habib-Bourguiba of Sfax in Tunisia. Seventy-three percent of the cases occurred in male patients and the mean age of appearance of the first tumour was 18.2 years. Tumour histology was squamous cell carcinoma in 74% of the cases. The total number of cutaneous tumours was 84. Ten patients had a surgical resection. Four patients did not respond to chemotherapy. The modality of irradiation was decided according to the size, thickness and localization of the tumour. The dose of radiotherapy was 60 Gy or equivalent with classic irradiation. Results. - The total number of lesions treated with radiotherapy was 64. Forty-three lesions were treated with contact-therapy, ten with brachytherapy and 11 with cobalt-therapy. The following acute complications were observed: cutaneous infection (53.3% of patients), radio-epithelitis (80% of patients) and necroses (33.3% of patients). Evaluation after treatment showed a clinical complete remission in 73% of the cases. Late effects were noted in seven cases: telangiectasia and cutaneous atrophy. A recurrence in the irradiated zone was observed in one case. A nodal metastasis was observed in two cases. Another patient presented lung metastases. After a median follow up of 37.2 months, four patients died, seven are alive with cutaneous cancer and four are alive with complete remission. Conclusion. - Radiotherapy is a possible and effective therapeutic alternative. Dose and methods are not defined for xeroderma pigmentosum. (authors)

Mapping brain morphological and functional conversion patterns in predementia late-onset bvFTD

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Morbelli, Silvia; Fiz, Francesco; Bossert, Irene; Buschiazzo, Ambra; Picori, Lorena; Sambuceti, Gianmario [University of Genoa and IRCCS AOU San Martino-IST, Nuclear Medicine Unit, Department of Health Science (DISSAL), Genoa (Italy); Ferrara, Michela; Dessi, Barbara; Arnaldi, Dario; Picco, Agnese; Accardo, Jennifer; Nobili, Flavio [University of Genoa and IRCCS AOU San Martino-IST, Clinical Neurology, Department of Neuroscience (DINOGMI), Genoa (Italy); Girtler, Nicola [University of Genoa and IRCCS AOU San Martino-IST, Clinical Neurology, Department of Neuroscience (DINOGMI), Genoa (Italy); University of Genoa and IRCCS AOU San Martino-IST, Clinical Psychology, Department of Neuroscience (DINOGMI), Genoa (Italy); Mandich, Paola [University of Genoa and IRCCS AOU San Martino-IST, Medical Genetics, Department of Neuroscience (DINOGMI), Genoa (Italy); Pagani, Marco [Institute of Cognitive Sciences and Technologies, CNR, Rome (Italy); Karolinska Hospital, Department of Nuclear Medicine, Stockholm (Sweden)

2016-07-15

The diagnosis of behavioural variant frontotemporal dementia (bvFTD) is challenging during the predementia stage when symptoms are subtle and confounding. Morphological and functional neuroimaging can be particularly helpful during this stage but few data are available. We retrospectively selected 25 patients with late-onset probable bvFTD. Brain structural MRI and FDG PET were performed during the predementia stage (mean MMSE score 27.1 ± 2.5) on average 2 years before. The findings with the two imaging modalities were compared (SPM8) with those in a group of 20 healthy subjects. The bvFTD patients were divided into two subgroups: those with predominant disinhibition (bvFTD+) and those with apathy (bvFTD-). Hypometabolism exceeded grey matter (GM) density reduction in terms of both extension and statistical significance in all comparisons. In the whole bvFTD group, hypometabolism involved the bilateral medial, inferior and superior lateral frontal cortex, anterior cingulate, left temporal and right parietal cortices and the caudate nuclei. GM density reduction was limited to the right frontal cortex and the left medial temporal lobe. In bvFTD+ patients hypometabolism was found in the bilateral medial and basal frontal cortex, while GM reduction involved the left anterior cingulate and left inferior frontal cortices, and the right insula. In bvFTD- patients, atrophy and mainly hypometabolism involved the lateral frontal cortex and the inferior parietal lobule. These findings suggest that hypometabolism is more extensive than, and thus probably precedes, atrophy in predementia late-onset bvFTD, underscoring different topographic involvement in disinhibited and apathetic presentations. If confirmed in a larger series, these results should prompt biomarker operationalization in bvFTD, especially for patient selection in therapeutic clinical trials. (orig.)

Mapping brain morphological and functional conversion patterns in predementia late-onset bvFTD

International Nuclear Information System (INIS)

Morbelli, Silvia; Fiz, Francesco; Bossert, Irene; Buschiazzo, Ambra; Picori, Lorena; Sambuceti, Gianmario; Ferrara, Michela; Dessi, Barbara; Arnaldi, Dario; Picco, Agnese; Accardo, Jennifer; Nobili, Flavio; Girtler, Nicola; Mandich, Paola; Pagani, Marco

2016-01-01

The diagnosis of behavioural variant frontotemporal dementia (bvFTD) is challenging during the predementia stage when symptoms are subtle and confounding. Morphological and functional neuroimaging can be particularly helpful during this stage but few data are available. We retrospectively selected 25 patients with late-onset probable bvFTD. Brain structural MRI and FDG PET were performed during the predementia stage (mean MMSE score 27.1 ± 2.5) on average 2 years before. The findings with the two imaging modalities were compared (SPM8) with those in a group of 20 healthy subjects. The bvFTD patients were divided into two subgroups: those with predominant disinhibition (bvFTD+) and those with apathy (bvFTD-). Hypometabolism exceeded grey matter (GM) density reduction in terms of both extension and statistical significance in all comparisons. In the whole bvFTD group, hypometabolism involved the bilateral medial, inferior and superior lateral frontal cortex, anterior cingulate, left temporal and right parietal cortices and the caudate nuclei. GM density reduction was limited to the right frontal cortex and the left medial temporal lobe. In bvFTD+ patients hypometabolism was found in the bilateral medial and basal frontal cortex, while GM reduction involved the left anterior cingulate and left inferior frontal cortices, and the right insula. In bvFTD- patients, atrophy and mainly hypometabolism involved the lateral frontal cortex and the inferior parietal lobule. These findings suggest that hypometabolism is more extensive than, and thus probably precedes, atrophy in predementia late-onset bvFTD, underscoring different topographic involvement in disinhibited and apathetic presentations. If confirmed in a larger series, these results should prompt biomarker operationalization in bvFTD, especially for patient selection in therapeutic clinical trials. (orig.)

Neurocognitive testing in late-onset Tay-Sachs disease: a pilot study.

Science.gov (United States)

Elstein, D; Doniger, G M; Simon, E; Korn-Lubetzki, I; Navon, R; Zimran, A

2008-08-01

To test neurocognitive function in patients with late-onset Tay-Sachs disease (LOTS) using a computerized system to assess whether cognition is a clinically relevant outcome measure of possible therapeutic intervention in LOTS. Ten adults with Tay-Sachs disease were administered at least one battery of the Mindstreams Neurotrax system for evaluation of cognitive function. Six sub-scores and a Global Cognitive Score (GCS) were tabulated. A disease specific severity score was also devised with six domains. Despite identical genotypes, all patients but the two oldest had > or = 3/6 sub-scores one standard deviation below normal mean (100); verbal and executive functions were most affected. The severity score measured other functions. Because of provocative findings on re-testing in patients exposed to miglustat, and despite the very small cohort, cognitive function may be an appropriate and clinically relevant outcome measure for future therapeutic interventions in LOTS.

Fat and carbohydrate metabolism during exercise in late-onset Pompe disease

DEFF Research Database (Denmark)

Preisler, Nicolai; Laforet, Pascal; Madsen, Karen Lindhardt

2012-01-01

forearm exercise testing, and peak work capacity was determined. Fat and carbohydrate metabolism during cycle exercise was examined with a combination of indirect calorimetry and stable isotope methodology. Finally, the effects of an IV glucose infusion on heart rate, ratings of perceived exertion...... examined the metabolic response to exercise in patients with late-onset Pompe disease, in order to determine if a defect in energy metabolism may play a role in the pathogenesis of Pompe disease. We studied six adult patients with Pompe disease and 10 healthy subjects. The participants underwent ischemic......, and work capacity during exercise were determined. We found that peak oxidative capacity was reduced in the patients to 17.6 vs. 38.8 ml kg(-1) min(-1) in healthy subjects (p = 0.002). There were no differences in the rate of appearance and rate of oxidation of palmitate, or total fat and carbohydrate...

Simulants of malignant melanoma

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Gérald E. Piérard

2015-08-01

Full Text Available During the recent period, dermoscopy has yielded improvement in the early disclosure of various atypical melanocytic neoplasms (AMN of the skin. Beyond this clinical procedure, AMN histopathology remains mandatory for establishing their precise diagnosis. Of note, panels of experts in AMN merely report moderate agreement in various puzzling cases. Divergences in opinion and misdiagnosis are likely increased when histopathological criteria are not fine-tuned and when facing a diversity of AMN types. Furthermore, some AMN have been differently named in the literature including atypical Spitz tumor, metastasizing Spitz tumor, borderline and intermediate melanocytic tumor, malignant Spitz nevus, pigmented epithelioid melanocytoma or animal-type melanoma. Some acronyms have been further suggested such as MELTUMP (after melanocytic tumor of uncertain malignant potential and STUMP (after Spitzoid melanocytic tumor of uncertain malignant potential. In this review, such AMN at the exclusion of cutaneous malignant melanoma (MM variants, are grouped under the tentative broad heading skin melanocytoma. Such set of AMN frequently follows an indolent course, although they exhibit atypical and sometimes worrisome patterns or cytological atypia. Rare cases of skin melanocytomas progress to loco regional clusters of lesions (agminate melanocytomas, and even to regional lymph nodes. At times, the distinction between a skin melanocytoma and MM remains puzzling. However, multipronged immunohistochemistry and emerging molecular biology help profiling any malignancy risk if present.

[Cutaneous adverse reactions to tattoos and piercings].

Science.gov (United States)

Mataix, J; Silvestre, J F

2009-10-01

Piercings and tattoos have become very popular in western society in recent decades, particularly among younger generations. Reports of medical complications associated with these decorative techniques have increased in parallel with the rise in their popularity. Due to their high frequency, adverse cutaneous reactions are particularly important among these potential complications. Tattoo-related complications include a number of cutaneous and systemic infections secondary to breach of the epidermal barrier, acute and delayed inflammatory reactions with different histopathological patterns, the appearance of benign and malignant tumors on tattooed areas of skin, and certain dermatoses triggered by isomorphic phenomena. Piercing-related complications are similar, though some, such as pyogenic skin infections, are much more common due to the delayed wound healing after piercing in certain sites. We must differentiate between complications that are independent of the site of piercing, and specific complications, which are closely related to the body area pierced. The rate of complications after performing piercings or tattoos depends on the experience of the artist, the hygiene techniques applied, and the postprocedural care by the customer. However, some of these complications are unpredictable and depend on factors intrinsic to the patient. In this article, we review the most common decorative techniques of body art, with particular focus on the potential cutaneous complications and their management.

A Case of Malignant Peripheral Nerve Sheath Tumor with Rhabdomyoblastic Differentiation: Malignant Triton Tumor

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Kenichiro Mae

2013-12-01

Full Text Available Malignant peripheral nerve sheath tumors (MPNST constitute a rare variety of soft tissue sarcomas thought to originate from Schwann cells or pluripotent cells of the neural crest. Malignant triton tumor (MTT, a very rare, highly aggressive soft tissue tumor, is a subgroup of MPNST and is comprised of malignant Schwann cells coexisting with malignant rhabdomyoblasts. We herein report the case of a 24-year-old man who presented a subcutaneous mass in his right thigh. The mass was removed surgically in its entirety and radiation therapy was applied locally to prevent tumor regrowth. Nonetheless, the patient died 10 months after surgery from metastases to the lung and brain. He presented neither cafe-au-lait spots nor cutaneous neurofibromas. The histopathology showed a transition from a neurofibroma to an MTT, making this the second report of an MTT arising from a neurofibroma without neurofibromatosis type 1, an autosomal dominant disorder with which 50-70% of tumors reported in previous studies were associated. A histopathological examination using immunostaining with desmin confirmed this diagnosis. MTT has a poorer prognosis than MPNST and should therefore be regarded as a distinct clinical entity.

Rare vulvar malignancies; incidence, treatment and survival in the Netherlands

NARCIS (Netherlands)

Pleunis, N.; Schuurman, M.S.; Rossum, M.M. van; Bulten, J.; Massuger, L.F.A.G.; Hullu, J.A. de; Aa, M.A. van der

2016-01-01

OBJECTIVE: To describe trends in incidence, treatment and survival of patients with basal cell carcinomas and melanomas of the vulva. Also to compare survival of vulvar and cutaneous melanoma patients. METHODS: All women with a vulvar malignancy between 1989 and 2012 were selected from the Dutch

Malignant pilomatricoma in a dog with local and distant metastases ...

African Journals Online (AJOL)

The dog had a malignant pilomatricoma removed from the left lateral thigh 6 months earlier. Histopathology review of the cutaneous and scapular mass identified the same tumour type, confirming metastatic disease; additional metastases to the inguinal lymph node, liver and lungs were identified. Chemotherapy resulted in ...

Breast Cancer Mimic: Cutaneous B-Cell Lymphoma Presenting as an Isolated Breast Mass

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Margaret Taghavi

2014-10-01

Full Text Available Background: Primary cutaneous B-cell lymphoma typically localizes to the skin, and dissemination to internal organs is rare. Lymphomatous involvement of the breasts is also rare. We describe the clinical and radiological findings of an unusual case of primary cutaneous B-cell lymphoma presenting as an isolated breast mass without associated skin changes. Case Presentation: The patient was a 55-year-old Caucasian female who initially presented with cutaneous B-cell lymphoma around her eyes and forehead with recurrence involving the skin between her breasts. Three years after terminating treatment due to a lack of symptoms, she presented for an annual screening mammogram that found a new mass in her upper inner right breast without imaging signs of cutaneous extension. On physical examination, there were no corresponding skin findings. Due to the suspicious imaging features of the mass that caused concern for primary breast malignancy, she underwent a core biopsy which revealed cutaneous B-cell lymphoma. Conclusion: When evaluating patients with a systemic disease who present with findings atypical for that process, it is important to still consider the systemic disease as a potential etiology, particularly with lymphoma given its reputation as a great mimicker.

Widespread disruption of functional brain organization in early-onset Alzheimer's disease.

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Sofie M Adriaanse

Full Text Available Early-onset Alzheimer's disease (AD patients present a different clinical profile than late-onset AD patients. This can be partially explained by cortical atrophy, although brain organization might provide more insight. The aim of this study was to examine functional connectivity in early-onset and late-onset AD patients. Resting-state fMRI scans of 20 early-onset (<65 years old, 28 late-onset (≥65 years old AD patients and 15 "young" (<65 years old and 31 "old" (≥65 years old age-matched controls were available. Resting-state network-masks were used to create subject-specific maps. Group differences were examined using a non-parametric permutation test, accounting for gray-matter. Performance on five cognitive domains were used in a correlation analysis with functional connectivity in AD patients. Functional connectivity was not different in any of the RSNs when comparing the two control groups (young vs. old controls, which implies that there is no general effect of aging on functional connectivity. Functional connectivity in early-onset AD was lower in all networks compared to age-matched controls, where late-onset AD showed lower functional connectivity in the default-mode network. Functional connectivity was lower in early-onset compared to late-onset AD in auditory-, sensory-motor, dorsal-visual systems and the default mode network. Across patients, an association of functional connectivity of the default mode network was found with visuoconstruction. Functional connectivity of the right dorsal visual system was associated with attention across patients. In late-onset AD patients alone, higher functional connectivity of the sensory-motor system was associated with poorer memory performance. Functional brain organization was more widely disrupted in early-onset AD when compared to late-onset AD. This could possibly explain different clinical profiles, although more research into the relationship of functional connectivity and cognitive

Definition of onset in the development of onset-based alcoholism typologies.

Science.gov (United States)

Parrella, D P; Filstead, W J

1988-01-01

Age of onset of alcoholism is gaining prominence as an explanatory construct in the development of models of alcoholism. Recently, at least one investigator has cited its potential as a simple means for deriving a typological classification scheme that could have great impact, both in terms of future research and in devising treatment strategies. Various investigators, however, operationalize alcoholism onset in different ways. By comparing five definitions of the concept, we show that the proportion of individuals classified as early or late onset can vary dramatically, depending on the interpretation given to phrases such as "subjective problems." Gender differences in early-late proportions are demonstrated, and the statistical relationship of the five items used as onset indicators is described. We suggest that collecting multiple convergent definitions of onset constitutes a structured recall aid that may ameliorate some of the problems to which self-report data are subject, while additionally providing the data necessary to create an aggregate measure that will increase reliability in comparison with the items individually. Finally, we encourage description of alcoholism onset as a developmental process rather than a single event, and urge investigators to increased precision in the operationalization of this construct as research in this area progresses.

screening for cognitive impairment in late onset depression in a Brazilian sample using the BBRC-edu

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Tânia Maria da Silva Novaretti

Full Text Available ABSTRACT Depression and dementia are the most prevalent neuropsychiatric disorders in the elderly population. Alzheimer's disease is the leading cause of dementia in most countries, being responsible for more than half of all dementia cases. Late-onset depression is a frequent cause of cognitive decline in the elderly. Differentiating between cognitive impairment secondary to depression and incipient dementia poses a challenge in the clinical setting. Objective: To evaluate the performance of elderly depressed patients using the BBRC-Edu. Methods: We studied 25 patients with late onset depression (mean age: 73.6 y (6.6; schooling: 9.1 y (5.7 and 30 patients with mild AD (mean age 76.6 y (5.4; schooling: 7.5 y (7.1, who were compared to a control group of 30 healthy elderly (mean age 73.8 y (5.8; schooling: 9.1 y (5.4 using the CERAD and BBRC-Edu batteries. Results: For the CERAD battery, depressed patients performed better than AD patients on all tasks (p0.05, and performed poorer than controls on verbal fluency (animals and Word List Recall tasks (p0.05, and performed worse than controls on Learning (second presentation and verbal fluency (fruits tasks (p<0.0001. Conclusion: Overall performance on the BBRC-Edu allowed differentiation of controls and depressed patients from AD patients.

Late onset autosomal dominant cerebellar ataxia a family description and linkage analysis with the hla system

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Walter O. Arruda

1991-09-01

Full Text Available A family suffering an autosomal dominant form of late onset hereditary cerebellar ataxia is described. Eight affected family members were personally studied, and data from another four were obtained through anamnesis. The mean age of onset was 37.1±5.4 years (27-47 years. The clinical picture consisted basically of a pure ataxic cerebellar syndrome. CT-scan disclosed diffuse cerebellar atrophy with relative sparing of the brainstem (and no involvement of supratentorial structures. Neurophysiological studies (nerve conduction, VEP and BAEP were normal. Twenty-six individuals were typed for HLA histocompatibility antigens. Lod scores were calculated with the computer program LINKMAP. Close linkage of the ataxia gene with the HLA system in this family could be excluded - 0==0,02, z=(-2,17 - and the overall analysis of the lod scores suggest another chromossomal location than chromosome 6.

The genetic variation of SORCS1 is associated with late-onset Alzheimer's disease in Chinese Han population.

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Wei Xu

Full Text Available The variations of SORCS1 gene may play potential key roles in late-onset Alzheimer's disease (LOAD. To evaluate the relationship between the polymorphism of SORCS1 gene and LOAD in the ethnic Han Chinese, we conducted a case-control study to investigate the association between the single-nucleotide polymorphisms (SNPs in intron 1 of SORCS1 and LOAD in Chinese Han population. Six reported SNPs in intron 1 of SORCS1 were analyzed by Snapshot, genotyping and haplotyping in 236 Chinese LOAD cases and 233 matched controls. The significant differences in frequencies of two SNPs (rs10884402, rs950809 were found between the two groups. In addition, haplotype analyses revealed that, in the LOAD group, the frequency of haplotypes C-C-G-T-C (alleles in order of rs17277986, rs6584777, rs10884402, rs7078098, rs950809 polymorphisms were significantly higher (Psim<0.0001 while haplotype C-C-A-T-C, C-C-A-C-C, T-T-A-C-C were significantly lower (Psim<0.0001. Our data suggested that the genetic variation of the rs10884402 and rs950809 in intron 1 of SORCS1 was associated with the late-onset AD in the Chinese Han population.

The cutaneous radiation syndrome: diagnosis and treatment

International Nuclear Information System (INIS)

Peter, R.U.; Steinert, M.; Gottlober, P.

2001-01-01

Accidental exposure to ionising radiation may occur during such catastrophic events as the Chernobyl accident in 1986 or for days and weeks as in Goiania in 1987 and in the military camp during the training of soldiers in Lilo/Georgia in 1997 as well as in medical institutions. The cutaneous symptoms after radiation exposure are based on a combination of inflammatory processes and alteration of cellular proliferation as a result of a specific pattern of transcriptionally activated pro-inflammatory cytokines and growth factors. They follow a time course consisting of prodromal erythema, manifestation, chronic stage, late stage and they are referred to as Cutaneous Radiation Syndrome. The time course depends on several factors such as the applied radiation dose, radiation quality, individual radiation sensitivity, the extent of contamination and absorption and volume of the skin. For diagnostics of the cutaneous radiation syndrome the following procedures are used: 7.5 MHz to 20 MHz-B-scan-sonography, thermography, capillary microscopy, profilometry, nuclear magnetic resonance imaging, bone scintigraphy and histology. Based on the results of experimental and clinical research of the last years pharmacotherapy of the cutaneous radiation syndrome includes topic or systemic application of corticosteroids, gamma-interferon, pentoxifylline and vitamin E and superoxide dismutase. The treatment depends on the stage of the cutaneous radiation syndrome. Due to the complexity of the clinical manifestations of radiation disease in most patients an interdisciplinary treatment in specialized centres is necessary. Dermatologists are asked to perform in most cases life-long therapy and follow-up of the patients. (author)

Elevated c-Src and c-Yes expression in malignant skin cancers

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Lee Jang

2010-08-01

Full Text Available Abstracts Background Src family kinases (SFKs play an important role in cancer proliferation, survival, motility, invasiveness, metastasis, and angiogenesis. Among the SFKs, c-Src and c-Yes are particularly over-expressed or hyper-activated in many human epithelial cancers. However, only a few studies have attempted to define the expression and role of c-Src and c-Yes in cutaneous carcinomas. Objectives To investigate the expression of c-Src and c-Yes in cutaneous carcinomas to include malignant melanoma (MM, squamous cell carcinoma (SCC and basal cell carcinoma (BCC. Methods We examined 6 normal skin tissues and 18 malignant skin tumor tissues using western blotting for the expression of c-Src and c-Yes. In another set, 16 specimens of MM, 16 SCCs and 16 BCCs were analyzed for the expression of c-Src and c-Yes using immunohistochemical staining. Results Western blotting showed that c-Src was expressed in all malignant skin tumors, but not in normal skin, while c-Yes was expressed in MM and SCC, but not in BCC and normal skin. Immunohistochemical staining results of c-Src and c-Yes in MM, SCC, and BCC mirrored those of the western blot analysis. Conclusions c-Src, rather than c-Yes, plays a key role in the proliferation and progression of malignant skin cancers.

Impression cytology diagnosis of ulcerative eyelid malignancy.

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Sen, S; Lyngdoh, A D; Pushker, N; Meel, R; Bajaj, M S; Chawla, B

2015-02-01

The utility of impression cytology in ocular diseases has predominantly been restricted to the diagnosis of dry eye, limbal stem cell deficiency and conjunctival neoplasias. Its role in malignant eyelid lesions remains largely unexplored. Although scrape cytology is more popular for cutaneous lesions, impression cytology, being non-traumatic, has an advantage in small and delicate areas such as the eyelid. The present study has been designed to evaluate its role in the diagnosis and management of malignant eyelid lesions. Thirty-two histopathologically proven malignant eyelid lesions diagnosed over a 2-year period, including 13 basal cell carcinomas, 11 sebaceous carcinomas, four squamous cell carcinomas, two malignant melanomas and two poorly differentiated carcinomas, formed the study group. The results of impression cytology were compared with those of histopathology in the study group and with an age- and sex-matched group of benign cases as controls. The sensitivity of impression cytology was 84% (27/32) for the diagnosis of malignancy and 28% (9/32) for categorization of the type of malignancy. Impression cytology is a simple, useful, non-invasive technique for the detection of malignant ulcerative eyelid lesions. It is especially useful as a follow-up technique for the detection of recurrences. © 2014 John Wiley & Sons Ltd.

Exponentially increasing incidences of cutaneous malignant melanoma in Europe correlate with low personal annual UV doses and suggests 2 major risk factors.

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Merrill, Stephen J; Ashrafi, Samira; Subramanian, Madhan; Godar, Dianne E

2015-01-01

For several decades the incidence of cutaneous malignant melanoma (CMM) steadily increased in fair-skinned, indoor-working people around the world. Scientists think poor tanning ability resulting in sunburns initiate CMM, but they do not understand why the incidence continues to increase despite the increased use of sunscreens and formulations offering more protection. This paradox, along with lower incidences of CMM in outdoor workers, although they have significantly higher annual UV doses than indoor workers have, perplexes scientists. We found a temporal exponential increase in the CMM incidence indicating second-order reaction kinetics revealing the existence of 2 major risk factors. From epidemiology studies, we know one major risk factor for getting CMM is poor tanning ability and we now propose the other major risk factor may be the Human Papilloma Virus (HPV) because clinicians find β HPVs in over half the biopsies. Moreover, we uncovered yet another paradox; the increasing CMM incidences significantly correlate with decreasing personal annual UV dose, a proxy for low vitamin D3 levels. We also discovered the incidence of CMM significantly increased with decreasing personal annual UV dose from 1960, when it was almost insignificant, to 2000. UV and other DNA-damaging agents can activate viruses, and UV-induced cytokines can hide HPV from immune surveillance, which may explain why CMM also occurs in anatomical locations where the sun does not shine. Thus, we propose the 2 major risk factors for getting CMM are intermittent UV exposures that result in low cutaneous levels of vitamin D3 and possibly viral infection.

Two cases of glufosinate poisoning with late onset convulsions.

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Tanaka, J; Yamashita, M; Yamashita, M; Matsuo, H; Yamamoto, T

1998-08-01

Glufosinate ammonium (GLA), the active ingredient in the non-selective herbicide BASTA (18.5% GLA), is a phosphinic acid analogue of glutamic acid. We report 2 cases of GLA poisoning with late onset convulsions and increased serum CK in spite of low blood concentrations of GLA after hemodialysis. A 69-y-old female was admitted to the emergency department after taking 500 ml of BASTA. On arrival she was conscious, and gut decontamination, hemodialysis and hemoperfusion were performed. However, 8 1/2 hours after ingestion, general convulsions occurred. Her serum OK increased to a peak of 24,900 IU/L on the third day of admission. An 87-y-old male was admitted to the emergency department 3 1/2 hours after taking 200 ml of BASTA and receiving gastric lavage at a local emergency room. On arrival he was conscious, and serial activated charcoal and hemodialysis was performed. Blood concentration of GLA after hemodialysis decreased from 1.56 micrograms/ml to 0.68 micrograms/ml. Thirty hours after admission he had general convulsions. GLA was not detected in the cerebrospinal fluid 6 h after the convulsions. His serum CK increased to a peak of 17,870 IU/L on the fifth day of admission.

Community Structure Analysis of Transcriptional Networks Reveals Distinct Molecular Pathways for Early- and Late-Onset Temporal Lobe Epilepsy with Childhood Febrile Seizures

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Moreira-Filho, Carlos Alberto; Bando, Silvia Yumi; Bertonha, Fernanda Bernardi; Iamashita, Priscila; Silva, Filipi Nascimento; Costa, Luciano da Fontoura; Silva, Alexandre Valotta; Castro, Luiz Henrique Martins; Wen, Hung-Tzu

2015-01-01

Age at epilepsy onset has a broad impact on brain plasticity and epilepsy pathomechanisms. Prolonged febrile seizures in early childhood (FS) constitute an initial precipitating insult (IPI) commonly associated with mesial temporal lobe epilepsy (MTLE). FS-MTLE patients may have early disease onset, i.e. just after the IPI, in early childhood, or late-onset, ranging from mid-adolescence to early adult life. The mechanisms governing early (E) or late (L) disease onset are largely unknown. In order to unveil the molecular pathways underlying E and L subtypes of FS-MTLE we investigated global gene expression in hippocampal CA3 explants of FS-MTLE patients submitted to hippocampectomy. Gene coexpression networks (GCNs) were obtained for the E and L patient groups. A network-based approach for GCN analysis was employed allowing: i) the visualization and analysis of differentially expressed (DE) and complete (CO) - all valid GO annotated transcripts - GCNs for the E and L groups; ii) the study of interactions between all the system’s constituents based on community detection and coarse-grained community structure methods. We found that the E-DE communities with strongest connection weights harbor highly connected genes mainly related to neural excitability and febrile seizures, whereas in L-DE communities these genes are not only involved in network excitability but also playing roles in other epilepsy-related processes. Inversely, in E-CO the strongly connected communities are related to compensatory pathways (seizure inhibition, neuronal survival and responses to stress conditions) while in L-CO these communities harbor several genes related to pro-epileptic effects, seizure-related mechanisms and vulnerability to epilepsy. These results fit the concept, based on fMRI and behavioral studies, that early onset epilepsies, although impacting more severely the hippocampus, are associated to compensatory mechanisms, while in late MTLE development the brain is less able to

Integration of HPV6 and downregulation of AKR1C3 expression mark malignant transformation in a patient with juvenile-onset laryngeal papillomatosis.

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Christian Ulrich Huebbers

Full Text Available Juvenile-onset recurrent respiratory papillomatosis (RRP is associated with low risk human papillomavirus (HPV types 6 and 11. Malignant transformation has been reported solely for HPV11-associated RRP in 2-4% of all RRP-cases, but not for HPV6. The molecular mechanisms in the carcinogenesis of low risk HPV-associated cancers are to date unknown. We report of a female patient, who presented with a laryngeal carcinoma at the age of 24 years. She had a history of juvenile-onset RRP with an onset at the age of three and subsequently several hundred surgical interventions due to multiple recurrences of RRP. Polymerase chain reaction (PCR or bead-based hybridization followed by direct sequencing identified HPV6 in tissue sections of previous papilloma and the carcinoma. P16(INK4A, p53 and pRb immunostainings were negative in all lesions. HPV6 specific fluorescence in situ hybridization (FISH revealed nuclear staining suggesting episomal virus in the papilloma and a single integration site in the carcinoma. Integration-specific amplification of papillomavirus oncogene transcripts PCR (APOT-PCR showed integration in the aldo-keto reductase 1C3 gene (AKR1C3 on chromosome 10p15.1. ArrayCGH detected loss of the other gene copy as part of a deletion at 10p14-p15.2. Western blot analysis and immunohistochemistry of the protein AKR1C3 showed a marked reduction of its expression in the carcinoma. In conclusion, we identified a novel molecular mechanism underlying a first case of HPV6-associated laryngeal carcinoma in juvenile-onset RRP, i.e. that HPV6 integration in the AKR1C3 gene resulted in loss of its expression. Alterations of AKR1C gene expression have previously been implicated in the tumorigenesis of other (HPV-related malignancies.

Cutaneous cancers in the Mosan region and Ardennes of Belgium.

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Piérard-Franchimont, C; Uhoda, I; Piérard, G E

1999-01-01

The ratios of basal cell carcinomas (BBC) to squamous cell carcinomas (SCC) and to malignant melanomas (MM) have changed over time in the white population throughout the world. To evaluate the incidence of skin cancers in the Mosan region and the Belgian Ardennes over the past 6 years. In contrast with epidemiological data reported by the Belgian National Cancer Registry, cutaneous cancers are the commonest malignancies occurring in humans. At the present time, the ratio BCC:SCC roughly equals 4 to 1. When combined, the incidence of BCC and SCC is about 10 times greater than that of MM. The rate of detection of skin cancers does not always correlate with the rate of notification of a national registry.

CUTANEOUS INVOLVEMENT IN MULTIPLE MYELOMA AT AN UNUSUAL SITE: A RARE CASE REPORT

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Lohit Kumar

2015-05-01

Full Text Available Multiple myeloma is a rare cancer. According to the most recent data from the Surveillance, Epidemiology, and End Results (SEER program, multiple myeloma is the second most common haematological malignancy in the U.S. (after non - Hodgkin lymphoma, constitutes 1% of all cancers and constitutes 2% of all cancer deaths. Cutaneous involvement of multiple myeloma during treatment period is uncommon with fewer described in literature. Moreover, metastatic cutaneous involvement at the sole of the foot during treatment period of a IgA kappa type multiple myeloma patient followed by death has not encountered in literature. We have reported such a case

Metastatic malignant pilomatrixoma, acanthomatous ameloblastoma, and liver tumor in a dog with polyphagia, polyuria, polydipsia, and weight loss.

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Barrot, Anne-Charlotte; Carioto, Lisa; Gains, Malcolm; Nadeau, Marie-Eve

2013-04-01

A 12-year-old, spayed female, Labrador dog was presented for evaluation of polyphagia, polyuria, polydipsia, weight loss of 2 months duration, and multiple cutaneous and subcutaneous masses. The dog was diagnosed with malignant pilomatrixoma with renal, lung, and lumbar metastases. This report describes an atypical presentation of malignant pilomatrixoma.

Metastatic malignant pilomatrixoma, acanthomatous ameloblastoma, and liver tumor in a dog with polyphagia, polyuria, polydipsia, and weight loss

OpenAIRE

Barrot, Anne-Charlotte; Carioto, Lisa; Gains, Malcolm; Nadeau, Marie-Eve

2013-01-01

A 12-year-old, spayed female, Labrador dog was presented for evaluation of polyphagia, polyuria, polydipsia, weight loss of 2 months duration, and multiple cutaneous and subcutaneous masses. The dog was diagnosed with malignant pilomatrixoma with renal, lung, and lumbar metastases. This report describes an atypical presentation of malignant pilomatrixoma.

Epidermal growth factor receptor inhibition by anti-CD147 therapy in cutaneous squamous cell carcinoma.

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Frederick, John W; Sweeny, Larissa; Hartman, Yolanda; Zhou, Tong; Rosenthal, Eben L

2016-02-01

Advanced cutaneous squamous cell carcinoma (SCC) is an uncommon and aggressive malignancy. As a result, there is limited understanding of its biology and pathogenesis. CD147 and epidermal growth factor receptor (EGFR) have been identified as oncologically important targets, but their relationship remains undefined in cutaneous SCC. Multiple cutaneous SCC cell lines (Colo-16, SRB-1, and SRB-12), were treated in vitro with a range of chimeric anti-CD147 monoclonal antibody (mAb) (0, 50, 100, and 200 µg/mL) or transfected with a small interfering RNA against CD147 (SiCD147). Cell proliferation, migration (scratch wound healing assay), and protein expression was then assessed. In vivo, Colo-16 flank xenografts were treated anti-CD147 mAb (150 µg i.p. triweekly). After treatment with anti-CD147 (200 µg/mL), there was a significant decrease in proliferation for all cell lines relative to controls (p CD147 (200 µg/mL) resulted in decreased cell migration for all cell lines, with an average of 43% reduction in closure compared to controls (p CD147 antibody therapy and siRNA mediated reduction in CD147 expression were both found to decrease protein expression of EGFR, which correlated with a reduction in downstream total and phosphorylated protein kinase B (pAKT). Tumor growth in vivo was reduced for both the anti-CD147 treatment group and the SiCD147 group relative to controls. Inhibition and downregulation of CD147 in cutaneous SCC resulted in suppression of the malignant phenotype in vitro and in vivo, which may be mediated in part by an alteration in EGFR expression. As a result, CD147 may serve as a potential therapeutic target for advanced cutaneous SCC. © 2014 Wiley Periodicals, Inc.

Spontaneous regression of metastases from malignant melanoma: a case report

DEFF Research Database (Denmark)

Kalialis, Louise V; Drzewiecki, Krzysztof T; Mohammadi, Mahin

2008-01-01

A case of a 61-year-old male with widespread metastatic melanoma is presented 5 years after complete spontaneous cure. Spontaneous regression occurred in cutaneous, pulmonary, hepatic and cerebral metastases. A review of the literature reveals seven cases of regression of cerebral metastases......; this report is the first to document complete spontaneous regression of cerebral metastases from malignant melanoma by means of computed tomography scans. Spontaneous regression is defined as the partial or complete disappearance of a malignant tumour in the absence of all treatment or in the presence...

NF1 truncating mutations associated to aggressive clinical phenotype with elephantiasis neuromatosa and solid malignancies.

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Ponti, Giovanni; Martorana, Davide; Pellacani, Giovanni; Ruini, Cristel; Loschi, Pietro; Baccarani, Alessio; De Santis, Giorgio; Pollio, Annamaria; Neri, Tauro Maria; Mandel, Victor Desmond; Maiorana, Antonio; Maccio, Livia; Maccaferri, Monia; Tomasi, Aldo

2014-06-01

Von Recklinghausen disease is a syndrome characterized by a wide phenotypic variability giving rise to both, cutaneous and visceral benign and malignant neoplasms. The first include cutaneous neurofibromas, subcutaneous and plexiform neurofibromas. The latter can undergo malignant transformation and/or determine elephantiasis neuromatosa. Visceral tumors may include malignant peripheral nerve sheet tumors, gastrointestinal stromal tumors, cerebral gliomas and abdominal neurofibromas. In the present study, the authors discuss the clinical and biomolecular characterization of a cohort of 20 families with a diagnosis of type 1 neurofibromatosis. Clinically, the cohort includes three probands with elephantiasis neuromatosa and a peculiarly high incidence of breast and gastrointestinal cancer. Among the 14 NF1 mutations documented, 10 encoding for a truncated protein have been associated to particularly aggressive clinical phenotypes including elephantiasis neuromatosa, malignant peripheral nerve sheet tumors, breast cancer, gastrointestinal stromal tumors. This effect on protein synthesis, rather than the type of NF1 mutation, is the key to the explanation of the genotype-phenotype correlations in the context of neurofibromatosis type 1. Copyright© 2014 International Institute of Anticancer Research (Dr. John G. Delinassios), All rights reserved.

Prospective exploratory muscle biopsy, imaging, and functional assessment in patients with late-onset Pompe disease treated with alglucosidase alfa: The EMBASSY Study

NARCIS (Netherlands)

A.T. van der Ploeg (Ans); Carlier, P.G. (Pierre G.); Carlier, R.-Y. (Robert-Yves); Kissel, J.T. (John T.); B. Schoser; Wenninger, S. (Stephan); Pestronk, A. (Alan); Barohn, R.J. (Richard J.); Dimachkie, M.M. (Mazen M.); Goker-Alpan, O. (Ozlem); Mozaffar, T. (Tahseen); Pena, L.D.M. (Loren D.M.); Simmons, Z. (Zachary); V. Straub; Guglieri, M. (Michela); Young, P. (Peter); Boentert, M. (Matthias); Baudin, P.-Y. (Pierre-Yves); S.C.A. Wens (Stephan); Shafi, R. (Raheel); Bjartmar, C. (Carl); B. Thurberg

2016-01-01

textabstractBackground Late-onset Pompe disease is characterized by progressive skeletal myopathy followed by respiratory muscle weakness, typically leading to loss of ambulation and respiratory failure. In this population, enzyme replacement therapy (ERT) with alglucosidase alfa has been shown to

RARE METASTASES OF MALIGNANT MELANOMA

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Marija Trenkić-Božinović

2014-09-01

Full Text Available Melanomas are malignant neoplasms that originate from melanocytes. The most common are on the skin and mucous membranes. Choroidal melanomas are quite different from cutaneous melanomas with regard to presentation, metastases, and treatment. We report two cases of metastatic gastric malignant melanoma of the eye and skin, with reference to the literature. The first patient was a woman aged 23 years, who underwent gastrectomy 22 months after enucleation of the eye due to malignant choroid melanoma. The second patient was a man, 72 years old, who underwent surgery 28 months before because of malignant melanoma of the skin of the forehead. Paraffin sections, 4 μm thick were stained using a classic method, as well as immunohistochemical DAKO APAAP method, using a specific S - 100 antibody and Melan A antibodies. The stomach is considered a rare place for the development of metastases. Metastases in the stomach are often limited to the submucosal as well as the serousmuscular layer, as noted in one of our patients. Metastatic melanoma of the gastrointestinal tract should be suspected in any patient with a history of malignant melanoma and new gastrointestinal symptoms. Because of the similarity between certain common histopathological types of malignant melanoma, primarily achromatic, and types of primary cancers of the stomach, the following immunohistochemical studies are needed: Melan A and S - 100 protein ( markers of malignant melanoma , as well as mucins: MUC5AC, MUC2 and CDX2 ( markers of different types of primary gastric carcinoma.

Primary cutaneous mucormycosis caused by Mucor irregularis in an elderly person.

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Yamaguchi, Sayaka; Okubo, Yuko; Katano, Azusa; Sano, Ayako; Uezato, Hiroshi; Takahashi, Kenzo

2015-02-01

Primary cutaneous mucormycosis is a rare but often lethal severe fungal infection, which usually occurs in immunocompromised patients. We report a case of primary cutaneous mucormycosis caused by Mucor irregularis in an elderly patient. Seven months after the surgical dissection of the involved skin, cutaneous mucormycosis recurred at the peripheral edge of the skin graft. Shortly subsequent to the administration of liposomal amphotericin B, the remaining skin lesion was excised again. M. irregularis is rarely but increasingly reported as a cause of mucormycosis in immunocompetent individuals, especially in Asian farmers. M. irregularis may be largely disseminated in the soils of Asia and thus the trivial trauma at the time of farm work may be a trigger for the onset. These cases tend to leave severe cosmetic damage even in healthy individuals, although the vital prognosis is not affected. © 2014 Japanese Dermatological Association.

Metastatic malignant pilomatrixoma, acanthomatous ameloblastoma, and liver tumor in a dog with polyphagia, polyuria, polydipsia, and weight loss

Science.gov (United States)

Barrot, Anne-Charlotte; Carioto, Lisa; Gains, Malcolm; Nadeau, Marie-Eve

2013-01-01

A 12-year-old, spayed female, Labrador dog was presented for evaluation of polyphagia, polyuria, polydipsia, weight loss of 2 months duration, and multiple cutaneous and subcutaneous masses. The dog was diagnosed with malignant pilomatrixoma with renal, lung, and lumbar metastases. This report describes an atypical presentation of malignant pilomatrixoma. PMID:24082168

Fully automatic diagnostic system for early- and late-onset mild Alzheimer's disease using FDG PET and 3D-SSP

International Nuclear Information System (INIS)

Ishii, Kazunari; Kono, Atsushi K.; Sasaki, Hiroki; Miyamoto, Naokazu; Fukuda, Tetsuya; Sakamoto, Setsu; Mori, Etsuro

2006-01-01

The purpose of this study was to design a fully automatic computer-assisted diagnostic system for early- and late-onset mild Alzheimer's disease (AD). Glucose metabolic images were obtained from mild AD patients and normal controls using positron emission tomography (PET) and 18 F-fluorodeoxyglucose (FDG). Two groups of 20 mild AD patients with different ages of onset were examined. A fully automatic diagnostic system using the statistical brain mapping method was established from the early-onset (EO) and late-onset (LO) groups, with mean ages of 59.1 and 70.9 years and mean MMSE scores of 23.3 and 22.8, respectively. Aged-matched normal subjects were used as controls. We compared the diagnostic performance of visual inspection of conventional axial FDG PET images by experts and beginners with that of our fully automatic diagnostic system in another 15 EO and 15 LO AD patients (mean age 58.4 and 71.7, mean MMSE 23.6 and 23.1, respectively) and 30 age-matched normal controls. A receiver operating characteristic (ROC) analysis was performed to compare data. The diagnostic performance of the automatic diagnostic system was comparable with that of visual inspection by experts. The area under the ROC curve for the automatic diagnostic system was 0.967 for EO AD patients and 0.878 for LO AD patients. The mean area under the ROC curve for visual inspection by experts was 0.863 and 0.881 for the EO and LO AD patients, respectively. The mean area under the ROC curve for visual inspection by beginners was 0.828 and 0.717, respectively. The fully automatic diagnostic system for EO and LO AD was able to perform at a similar diagnostic level to visual inspection of conventional axial images by experts. (orig.)

Very late-onset group B Streptococcus meningitis, sepsis, and systemic shigellosis due to interleukin-1 receptor-associated kinase-4 deficiency.

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Krause, Jens C; Ghandil, Pegah; Chrabieh, Maya; Casanova, Jean-Laurent; Picard, Capucine; Puel, Anne; Creech, C Buddy

2009-11-01

We describe a child with very late-onset group B Streptococcus sepsis and meningitis, systemic shigellosis, and chronic osteomyelitis. Peripheral blood cells obtained from the patient and her brother did not respond to stimulation with either interleukin-1beta or lipopolysaccharide. Sequencing of the interleukin-1 receptor-associated kinase-4 gene revealed 2 novel mutations.

Pulmonary Nodules with Cutaneous Manifestations: A Case Report and Discussion

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Ardiles T

2012-04-01

Full Text Available The differential diagnosis of multiple pulmonary nodules is large and includes congenital and inherited disorders, malignancy, infectious etiologies, noninfectious granulomatous and inflammatory conditions,among many others. Diagnostic evaluation is aided by attention to extrapulmonary symptoms and features. We herein describe an unusual case of multiple pulmonary nodules attributed to cysticercosis and present a discussion of pathophysiologic changes related to medications and highlight the diagnostic value of extrapulmonary cutaneous features.

A cryptic BAP1 splice mutation in a family with uveal and cutaneous melanoma, and paraganglioma

DEFF Research Database (Denmark)

Wadt, K.; Choi, J.; Chung, J.Y.

2012-01-01

Inactivating germ line BRCA1-associated protein-1 (BAP1) mutations have recently been reported in families with uveal or cutaneous malignant melanoma (UMM, CMM), mesothelioma, and meningioma. Although apparently predisposing to a wide range of tumors, the exact tumor spectrum associated with germ...

Effect of Patient-Prosthesis Mismatch in Aortic Position on Late-Onset Tricuspid Regurgitation and Clinical Outcomes after Double Valve Replacement.

Science.gov (United States)

Lee, Seung Hyun; Youn, Young Nam; Chang, Byung Chul; Joo, Hyun Chel; Lee, Sak; Yoo, Kyung Jong

2017-09-01

Significant late-onset tricuspid regurgitation (TR) is unfortunately common after double valve replacement (DVR); however, its underlying factors remain undefined. We evaluated the effect of aortic patient-prosthesis mismatch (PPM) on late-onset TR and clinical outcomes after DVR. Of the 2392 consecutive patients who underwent aortic valve replacement between January 1990 and May 2014 at our institution, we retrospectively studied 462 patients who underwent DVR (excluding concomitant tricuspid valvular annuloplasty or replacement). Survival and freedom from grade >3 TR were compared between PPM (n=152) and non-PPM (n=310) groups using the Kaplan-Meier method. Although the overall survival rates were similar between the two groups at 5 and 10 years (95%, 91% vs. 96%, 93%, p=0.412), grade >3 TR-free survival was significantly lower in the PPM group (98%, 91% vs. 99%, 95%, p=0.014). Small body-surface area, atrial fibrillation, PPM, and subaortic pannus were risk factors for TR progression. However, aortic prosthesis size and trans-valvular pressure gradient were not significant factors for either TR progression or overall survival. Aortic PPM in DVR, regardless of mitral prosthesis size, was associated with late TR progression, but was not significantly correlated with overall survival. Therefore, we recommend careful echocardiographic follow-up for the early detection of TR progression in patients with aortic PPM in DVR. © Copyright: Yonsei University College of Medicine 2017

Rendezvous technique treatment for late-onset biliary leakage after major hepatectomy of a living donor: report of a case.

Science.gov (United States)

Kimura, Koichi; Ikegami, Toru; Yamashita, Yo-ichi; Saeki, Hiroshi; Oki, Eiji; Yoshizumi, Tomoharu; Uchiyama, Hideaki; Kawanaka, Hirofumi; Soejima, Yuji; Morita, Masaru; Shirabe, Ken; Ikeda, Tetsuo; Maehara, Yoshihiko

2013-09-01

Biliary leakage is a major complication after hepatectomy. We report the case of a living-donor liver transplantation (LDLT) donor with a late-onset bile leak from the trifurcation of the hepatic duct who was successfully treated using rendezvous technique. A 52-year-old man underwent extended left hepatectomy for donation and was discharged on postoperative day (PD) 13. However, he was rehospitalized on PD 26 with severe abdominal pain. Physical examination suggested panperitonitis, and abdominocentesis showed bilious ascites. Emergent laparotomy for biliary leakage and peritonitis was performed. There was bilious ascites in the peritoneal cavity. A biliary fistula was recognized at the trifurcation of B8a, B8b, and B5. Intraoperative transhepatic biliary drainage of each bile duct was performed. Endoscopic transpapillary drainage was performed on PD 24. Finally, external drains were removed and complete internal drainage established on PD 70. The bile leak was considered to be the result of injury from electrocautery device. Appropriate making choices of the electrocautery devices enable us to avoid over thermal injury of the liver surface. Rendezvous bidirectional drainage effectively treated late-onset bile leakage from the trifurcation of a hepatic bile duct.

Rare Functional Variant in TM2D3 is Associated with Late-Onset Alzheimer's Disease.

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Johanna Jakobsdottir

2016-10-01

Full Text Available We performed an exome-wide association analysis in 1393 late-onset Alzheimer's disease (LOAD cases and 8141 controls from the CHARGE consortium. We found that a rare variant (P155L in TM2D3 was enriched in Icelanders (~0.5% versus <0.05% in other European populations. In 433 LOAD cases and 3903 controls from the Icelandic AGES sub-study, P155L was associated with increased risk and earlier onset of LOAD [odds ratio (95% CI = 7.5 (3.5-15.9, p = 6.6x10-9]. Mutation in the Drosophila TM2D3 homolog, almondex, causes a phenotype similar to loss of Notch/Presenilin signaling. Human TM2D3 is capable of rescuing these phenotypes, but this activity is abolished by P155L, establishing it as a functionally damaging allele. Our results establish a rare TM2D3 variant in association with LOAD susceptibility, and together with prior work suggests possible links to the β-amyloid cascade.

Zosteriform cutaneous leiomyoma: a rare cutaneous neoplasm

International Nuclear Information System (INIS)

Bari, A.U.

2013-01-01

Cutaneous leiomyomas are firm, round to oval, skin-coloured to brownish papules and nodules that may present as a solitary, few discrete or multiple clustered lesions. Different uncommon patterns of multiple leiomyoma distribution have been noted as bilateral, symmetrical, linear, zosteriform, or dermatomal-like arrangement. One such rare presentation was seen in a 23-year-old patient who presented with zosteriform skin coloured, occasionally painful cutaneous lesions over left shoulder region. Histopathology confirmed the diagnosis of cutaneous leiomyoma. He was symptomatically managed with non-steroidal anti-inflammatory agents and topical capcicum cream. Case is reported here due to rare occurrence of this benign cutaneous neoplasm in an atypical pattern and on uncommon site. (author)

In vivo photoacoustic microscopy of human cutaneous microvasculature and a nevus.

Science.gov (United States)

Favazza, Christopher P; Jassim, Omar; Cornelius, Lynn A; Wang, Lihong V

2011-01-01

In several human volunteers, photoacoustic microscopy (PAM) has been utilized for noninvasive cutaneous imaging of the skin microvasculature and a melanocytic nevus. Microvascular networks in both acral and nonacral skin were imaged, and multiple features within the skin have been identified, including the stratum corneum, epidermal-dermal junction, and subpapillary vascular plexus. Several vascular and structural differences between acral and nonacral skin were also observed in the photoacoustic images. In addition, a nevus was photoacoustically imaged, excised, and histologically analyzed. The photoacoustic images allowed for in vivo measurement of tumor thickness, depth, and microvasculature-values confirmed by histologic examination. The presented images demonstrate the potential of PAM to aid in the study and evaluation of cutaneous microcirculation and analysis of pigmented lesions. Through its ability to three-dimensionally image the structure and function of the microvasculature and pigmented lesions, PAM can have a clinical impact in diagnosis and assessment of systemic diseases that affect the microvasculature such as diabetes and cardiovascular disease, cutaneous malignancies such as melanoma, and potentially other skin disorders.

Loss of SHP-1 tyrosine phosphatase expression correlates with the advanced stages of cutaneous T-cell lymphoma

DEFF Research Database (Denmark)

Witkiewicz, Agnieszka; Raghunath, Puthiyaveettil; Wasik, Agnieszka

2007-01-01

Cutaneous T-cell lymphoma (CTCL) comprises distinct and often progressive stages of skin involvement by patches, plaques, and tumors. We have previously demonstrated that CTCL-derived malignant T-cell lines display loss of a tumor suppressor SHP-1 tyrosine phosphatase because of epigenetic...

Late onset temporal lobe epilepsy with MRI evidence of mesial temporal sclerosis following acute neurocysticercosis. Case report

International Nuclear Information System (INIS)

Kobayashi, Eliane; Guerreiro, Carlos A.M.; Cendes, Fernando

2001-01-01

The objective of this case report is to describe magnetic resonance imaging (MRI) evidence of mesial temporal sclerosis (MTS) in a patient with new onset temporal lobe epilepsy (TLE) and acute neurocysticercosis with multiple cysts. A 56 years old man with new onset headache, Simple Partial Seizures and Complex Partial Seizures underwent CT scan and lumbar puncture as diagnose proceeding. Multiple cysts and meningitis were identified, with a positive immunology for cysticercosis. Seizures were recorded over the left temporal region in a routine EEG. Treatment with al bendazole was performed for 21 days, with clinical improvement and seizure remission after 4 months. An MRI scan 11 months after treatment, showed complete resolution of those cystic lesions and a left hippocampal atrophy (HA) with hyperintense T2 signal. The presence of HA and hyperintense T 2 signal in this patient has not, to date, been associated with a poor seizure control. Conclusions: This patient presented with MRI evidence of left MTS after new onset partial seizures of left temporal lobe origin. Although we did not have a previous MRI scan, it is likely that this hippocampal abnormality was due to the acute inflammatory response to cysticercosis associated to repeated partial seizures. This suggests that acute neurocysticercosis associated with repeated seizures may cause MTS and late onset TLE. (author)

Late onset temporal lobe epilepsy with MRI evidence of mesial temporal sclerosis following acute neurocysticercosis. Case report

Energy Technology Data Exchange (ETDEWEB)

Kobayashi, Eliane; Guerreiro, Carlos A.M.; Cendes, Fernando [Universidade Estadual de Campinas, SP (Brazil). Faculdade de Ciencias Medicas. Dept. de Neurologia]. E-mail: fcendes@unicamp.br

2001-06-01

The objective of this case report is to describe magnetic resonance imaging (MRI) evidence of mesial temporal sclerosis (MTS) in a patient with new onset temporal lobe epilepsy (TLE) and acute neurocysticercosis with multiple cysts. A 56 years old man with new onset headache, Simple Partial Seizures and Complex Partial Seizures underwent CT scan and lumbar puncture as diagnose proceeding. Multiple cysts and meningitis were identified, with a positive immunology for cysticercosis. Seizures were recorded over the left temporal region in a routine EEG. Treatment with al bendazole was performed for 21 days, with clinical improvement and seizure remission after 4 months. An MRI scan 11 months after treatment, showed complete resolution of those cystic lesions and a left hippocampal atrophy (HA) with hyperintense T2 signal. The presence of HA and hyperintense T 2 signal in this patient has not, to date, been associated with a poor seizure control. Conclusions: This patient presented with MRI evidence of left MTS after new onset partial seizures of left temporal lobe origin. Although we did not have a previous MRI scan, it is likely that this hippocampal abnormality was due to the acute inflammatory response to cysticercosis associated to repeated partial seizures. This suggests that acute neurocysticercosis associated with repeated seizures may cause MTS and late onset TLE. (author)

Asymptomatic brain metastases in patients with cutaneous metastatic malignant melanoma

DEFF Research Database (Denmark)

Zukauskaite, Ruta; Schmidt, Henrik; Asmussen, Jon T

2013-01-01

-enhanced CT scan of the brain before the start of interleukin-2 (IL-2)-based immunotherapy. Among the 697 patients, 80 had asymptomatic brain metastases (12%). Patients' characteristics did not differ significantly between groups with and without brain metastases. Patients received systemic treatment (IL-2......The aim of the study was to identify the frequency of asymptomatic brain metastases detected by computed tomography (CT) scans in patients with metastatic cutaneous melanoma referred to first-line systemic treatment. Between 1995 and 2009, 697 Danish patients were screened with a contrast......-based or cytotoxic chemotherapy), local treatment (stereotactic radiotherapy, whole-brain radiotherapy or surgery), or best supportive care only. The survival was significantly shorter for patients with asymptomatic brain metastases compared with patients without brain metastases (P...

Role of PET in the initial staging of cutaneous malignant melanoma: systematic review.

Science.gov (United States)

Krug, Bruno; Crott, Ralph; Lonneux, Max; Baurain, Jean-François; Pirson, Anne-Sophie; Vander Borght, Thierry

2008-12-01

To calculate summary estimates of the diagnostic performance of fluorine 18 fluorodeoxyglucose (FDG) positron emission tomographic (PET) imaging in the initial staging of cutaneous malignant melanoma (CMM), following the new American Joint Committee on Cancer (AJCC) staging classification on per-patient and per-lesion bases. MEDLINE, EMBASE, Web of Science, and Cochrane Database of Systematic Reviews databases, and reference lists of reviews and included papers were searched, without any language restrictions, for relevant articles published before March 2007. Two reviewers independently assessed study eligibility and methodologic quality by using the quality assessment of diagnostic accuracy studies checklist. A pooled random effect was estimated and a fixed coefficient regression model was used to explore the existing heterogeneity. Twenty-eight studies involving 2905 patients met the inclusion criteria. The pooled estimates of FDG PET for the detection of metastasis in the initial staging of CMM were sensitivity, 83% (95% confidence interval [CI]: 81%, 84%); specificity, 85% (95% CI: 83%, 87%); positive likelihood ratio (LR), 4.56 (95% CI: 3.12, 6.64); negative LR, 0.27 (95% CI: 0.18, 0.40); and diagnostic odds ratio, 19.8 (95% CI: 10.8, 36.4). Results from eight studies suggested that FDG PET was associated with 33% disease management changes (range, 15%-64%). There is good preliminary evidence that FDG PET is useful for the initial staging of patients with CMM, especially as adjunctive role in AJCC stages III and IV, to help detect deep soft-tissue, lymph node, and visceral metastases. FDG PET-computed tomographic imaging seemed to be more precise than PET alone, as suggested by four eligible studies. Further evaluation by using a well-designed prospective study, with clinical outcome-focused measures and cost effectiveness analysis, is needed to clarify the appropriate role of FDG PET in CMM staging. http://radiology.rsnajnls.org/cgi/content/full/249/3/836/DC

Survival after a psychoeducational intervention for patients with cutaneous malignant melanoma: a replication study

DEFF Research Database (Denmark)

Boesen, Ellen H; Boesen, Sidsel H; Frederiksen, Kirsten

2007-01-01

The results of a randomized, intervention study done in 1993 of psychoeducation for patients with early-stage malignant melanoma showed a beneficial effect on recurrence and survival 6 years after the intervention. In the present study, we replicated the study with 258 Danish patients with malign...... with malignant melanoma. We also compared recurrence and survival among the participants in the randomized study with 137 patients who refused to participate....

A COMPREHENSIVE STUDY OF GAMMA-RAY BURST OPTICAL EMISSION. II. AFTERGLOW ONSET AND LATE RE-BRIGHTENING COMPONENTS

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Liang Enwei; Li Liang; Liang Yunfeng; Tang Qingwen; Chen Jiemin; Lu Ruijing; Lue Lianzhong [Department of Physics and GXU-NAOC Center for Astrophysics and Space Sciences, Guangxi University, Nanning 530004 (China); Gao He; Zhang, Bing; Lue Houjun [Department of Physics and Astronomy, University of Nevada, Las Vegas, NV 89154 (United States); Wu Xuefeng [Purple Mountain Observatory, Chinese Academy of Sciences, Nanjing 210008 (China); Yi Shuangxi; Dai Zigao [School of Astronomy and Space Science, Nanjing University, Nanjing, Jiangsu 210093 (China); Zhang Jin; Wei Jianyan, E-mail: lew@gxu.edu.cn, E-mail: zhang@physics.unlv.edu [National Astronomical Observatories, Chinese Academy of Sciences, Beijing 100012 (China)

2013-09-01

We continue our systematic statistical study of various components of gamma-ray burst (GRB) optical light curves. We decompose the early onset bump and the late re-brightening bump with empirical fits and analyze their statistical properties. Among the 146 GRBs that have well-sampled optical light curves, the onset and re-brightening bumps are observed in 38 and 26 GRBs, respectively. It is found that the typical rising and decaying slopes for both the onset and re-brightening bumps are {approx}1.5 and {approx} - 1.15, respectively. No early onset bumps in the X-ray band are detected to be associated with the optical onset bumps, while an X-ray re-brightening bump is detected for half of the re-brightening optical bumps. The peak luminosity is anti-correlated with the peak time L{sub p}{proportional_to}t{sub p}{sup -1.81{+-}0.32} for the onset bumps and L{sub p}{proportional_to}t{sub p}{sup -0.83{+-}0.17} for the re-brightening bumps. Both L{sub p} and the isotropic energy release of the onset bumps are correlated with E{sub {gamma},iso}, whereas no similar correlation is found for the re-brightening bumps. These results suggest that the afterglow onset bumps are likely due to the deceleration of the GRB fireballs. Taking the onset bumps as probes for the properties of the fireballs and their ambient medium, we find that the typical power-law index of the relativistic electrons is 2.5 and the medium density profile behaves as n{proportional_to}r {sup -1} within the framework of the synchrotron external shock models. With the medium density profile obtained from our analysis, we also confirm the correlation between the initial Lorentz factor ({Gamma}{sub 0}) and E{sub iso,{gamma}} in our previous work. The jet component that produces the re-brightening bump seems to be on-axis and independent of the prompt emission jet component. Its typical kinetic energy budget would be about one order of magnitude larger than the prompt emission component, but with a lower {Gamma

Clinical efficacy of Myozyme on one ventilator dependent patient with late-onset glycogen storage disease typeⅡ

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Juan YANG

2014-05-01

Full Text Available Objective To evaluate the effect of Myozyme on one ventilator dependent patient with late-onset glycogen storage disease typeⅡ (GSDⅡ.  Methods Myozyme infusion was administered based on manufacturer's recommendations at 20 mg/kg every 2 to 4 weeks, beginning at actual body weight, and was continuously treated for 6 times. No premedication was performed except 5 mg dexamethasone was administered at the first use of Myozyme. Clinical assessment was completed every day and was lasted for 16 months including motor function, the time free of ventilation, and the change of respiration parameters.  Results Myozyme was well tolerated without adverse reactions. Pain on shoulder began to alleviate the next day after taking Myozyme. With the prolonged time and increased number of taking drugs, the time free of ventilation and doing in-situ stepping prolonged, and the speed of stepping in-situ also increased. Besides, the strength of lifting the upper limbs increased, and both the time and speed of walking free of ventilation prolonged. The maximus curative effect occured at the 7th month (3 months after drug withdrawal after treatment and returned to pre-treatment levels at the 8th month (4 months after drug withdrawal. The pain on shoulder was the first symptom that got improved, and the fastest symptom that returned to baseline.  Conclusions Myozyme has positive effect on ventilated patients with late-onset glycogen storage disease type Ⅱ. doi: 10.3969/j.issn.1672-6731.2014.05.009

Progress in surgical palliative treatment for malignant obstructive jaundice

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LIANG Zhang

2013-06-01

Full Text Available Obstructive jaundice, also known as surgical jaundice, is divided into benign and malignant types. Most of the patients newly diagnosed with malignant obstructive jaundice have lost the opportunity of receiving radical surgery due to its insidious onset, so surgical palliative treatment is very important for patients with advanced malignant obstructive jaundice. This paper elaborates on various current modalities of surgical palliative treatment for malignant obstructive jaundice. Appropriate modality of surgical palliative treatment is of great significance for patients with advanced malignant obstructive jaundice.

Late-onset Alzheimer's disease is associated with inherent changes in bioenergetics profiles.

Science.gov (United States)

Sonntag, Kai-C; Ryu, Woo-In; Amirault, Kristopher M; Healy, Ryan A; Siegel, Arthur J; McPhie, Donna L; Forester, Brent; Cohen, Bruce M

2017-10-25

Body-wide changes in bioenergetics, i.e., energy metabolism, occur in normal aging and disturbed bioenergetics may be an important contributing mechanism underlying late-onset Alzheimer's disease (LOAD). We investigated the bioenergetic profiles of fibroblasts from LOAD patients and healthy controls, as a function of age and disease. LOAD cells exhibited an impaired mitochondrial metabolic potential and an abnormal redox potential, associated with reduced nicotinamide adenine dinucleotide metabolism and altered citric acid cycle activity, but not with disease-specific changes in mitochondrial mass, production of reactive oxygen species, transmembrane instability, or DNA deletions. LOAD fibroblasts demonstrated a shift in energy production to glycolysis, despite an inability to increase glucose uptake in response to IGF-1. The increase of glycolysis and the abnormal mitochondrial metabolic potential in LOAD appeared to be inherent, as they were disease- and not age-specific. Our findings support the hypothesis that impairment in multiple interacting components of bioenergetic metabolism may be a key mechanism contributing to the risk and pathophysiology of LOAD.

MALIGNANT TRANSFORMATION OF EROSIVE ORAL LICHEN PLANUS

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Siti Chumaeroh

2006-04-01

Full Text Available Lichen planus is a relatively common inflammatory disorder which may have cutaneous and or mucosal manifestation. The malignant potential of oral lichen planus is still debatable. Some authors are sceptical about the premalignant nature of the disease, while other investigators have reported that malignant transformations occur in 1-10% of the cases. The aim of this study is to report a case of erosive lichen plans which shows malignant transformation of histopathologic examination. A man of 39 years old visited the Dental Department or Kajradi's Hospital with pain symptoms of the palate, buccal and gingival mucosa on both sides for 6 months. The physical examination shows the white lesion with striae configuration and pain, red erosive area inside the palate extends to the buccal mucosa and the gingival mucosa. The suspect diagnosis is erosive lichen planus, but the histopathologic examination shows epidermoid carcinoma. It is concluded that erosive oral lichen planus has the potential to transform into epidermoid carcinoma.

Late-onset persistent retinal microvascular changes after bone marrow transplantation: 3-year follow-up

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Muccioli Cristina

2002-01-01

Full Text Available Purpose: To describe a case of persistent retinopathy after bone marrow transplantation in the absence of radiation therapy. Methods: Case Report. Results: A 42 year-old man developed bilateral visual loss 15 months after receiving a bone marrow transplant for acute leukemia. The patient was treated with a high dose of cyclosporin A and oral corticosteroids. No radiation therapy was given. Late-onset, multiple, bilateral cotton-wool spots developed 15 months after the bone marrow transplantation and still persist. After three years other cotton-wool spots arose in the absence of any immunosuppressive therapy. Conclusions: Bone marrow transplantation microvasculopathy of the retina may be related to certain combinations of chemotherapy drugs or immunosuppression itself and may persist in the absence of these immunosuppressive drugs.

Late-onset progressive visual loss in a man with unusual MRI findings: MS, Harding's, Leber's or Leber's Plus?

LENUS (Irish Health Repository)

Cawley, N

2012-02-01

Leber\\'s hereditary optic neuropathy (LHON) is a maternally inherited disorder, typically presenting in the second and third decade. We report the case of an elderly gentleman with significant vascular risk factors, presenting with slowly progressive, bilateral, visual loss with high signal lesions in the pericallosal and periventricular deep white matter on MRI brain studies. Possible diagnoses included late-onset MS, ischaemic optic neuropathies, a mitochondrial disorder or an overlap syndrome such as Harding\\'s disease.

Microwave therapy for cutaneous human papilloma virus infection.

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Bristow, Ivan; Lim, Wen Chean; Lee, Alvin; Holbrook, Daniel; Savelyeva, Natalia; Thomson, Peter; Webb, Christopher; Polak, Marta; Ardern-Jones, Michael R

2017-10-01

Human papilloma virus (HPV) infects keratinocytes of the skin and mucous membranes, and is associated with the induction of cutaneous warts and malignancy. Warts can induce significant morbidity and disability but most therapies, including cryotherapy, laser, and radiofrequency devices show low efficacy and induce discomfort through tissue destruction. Microwaves are readily capable of passing through highly keratinised skin to deliver energy and induce heating of the tissue in a highly controllable, uniform manner. To determine the effects of microwave on cutaneous HPV infection. We undertook a pilot study of microwave therapy to the skin in 32 consecutive individuals with 52 recalcitrant long-lived viral cutaneous warts. Additionally, we undertook a molecular characterisation of the effects of microwaves on the skin. Tissue inflammation was minimal, but 75.9% of lesions cleared which compares favourably with previous studies showing a clearance rate of 23-33% for cryotherapy or salicylic acid. We show that microwaves specifically induce dendritic cell cross-presentation of HPV antigen to CD8+ T cells and suggest that IL-6 may be important for DC IRF1 and IRF4 modulation to enhance this process. Keratinocyte-skin dendritic cell cross-talk is integral to host defence against HPV infections, and this pilot study supports the concept of microwave induction of anti-HPV immunity which offers a promising approach for treatment of HPV-induced viral warts and potentially HPV-related cancers.

An unusual association of headache, epilepsy, and late-onset Kleist’s pseudodepression syndrome in frontal lobe cavernoma of the cerebral left hemisphere

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Chirchiglia D

2017-05-01

Full Text Available Domenico Chirchiglia,1 Attilio Della Torre,1 Domenico Murrone,2 Pasquale Chirchiglia,3 Rosa Marotta4 1Department of Neurosurgery, Neurophysiopathology Unit, University of Catanzaro “Magna Graecia”, Catanzaro, 2Neurosurgery Department, Di Venere Hospital, Bari, 3School of Medicine, University of Catanzaro, Catanzaro, 4Department of Medical and Surgical Sciences, University of Catanzaro, Catanzaro, Italy Abstract: Cerebral cavernous angioma or cavernoma is a benign vascular malformation, usually asymptomatic. It is infrequent and often its discovery is incidental, a so-called incidentaloma. However, these lesions can be symptomatic, causing headaches, epilepsy, cerebral hemorrhage and other neurological signs depending on the brain area involved. Frontal localization is responsible for psychiatric disorders, particularly the prefrontal region, leading to prefrontal syndrome, a condition common in all frontal lobe tumors. Psychopathological syndrome can be depression-type, pseudodepression syndrome or maniac-type, pseudomaniac syndrome. Surgical treatment of lesions like this may not always be possible due to their location in eloquent areas. In this study, we describe an unusual association of migraine-like headache, epilepsy and frontal lobe pseudodepression late-onset syndrome in the same patient. We have considered this case interesting mainly for the rarity of both a headache with migraine features and for the late onset of pseudodepression syndrome. Pathophysiology underlying migraine-like headache and that concerning the late-onset pseudodepression frontal lobe syndrome seems to be unclear. This case leads to further hypotheses about the mechanisms responsible for headache syndromes and psychopathological disorders, in the specific case when caused by a cerebral frontal lobe lesion. Keywords: cerebral cavernoma, cavernous angioma, headache, frontal syndrome, pseudodepression syndrome 

Adult onset glycogen storage disease type II (adult onset Pompe disease): report and magnetic resonance images of two cases

International Nuclear Information System (INIS)

Del Gaizo, Andrew; Banerjee, Sima; Terk, Michael

2009-01-01

Glycogen storage disease type II (GSDII), also referred to as Pompe disease or acid maltase deficiency, is a rare inherited condition caused by a deficiency in acid alpha-glucosidase (GAA) enzyme activity. The condition is often classified by age of presentation, with infantile and late onset variants (Laforet et al. J Neurology 55:1122-8, 2000). Late onset tends to present with progressive proximal muscle weakness and respiratory insufficiency (Winkel et al. J Neurology 252:875-84, 2005). We report two cases of biopsy confirmed adult onset GSDII, along with key Magnetic Resonance (MR) images. (orig.)

Late onset Tay-Sachs disease in mice with targeted disruption of the Hexa gene: behavioral changes and pathology of the central nervous system.

Science.gov (United States)

Miklyaeva, Elena I; Dong, Weijia; Bureau, Alexandre; Fattahie, Roya; Xu, Yongqin; Su, Meng; Fick, Gordon H; Huang, Jing-Qi; Igdoura, Suleiman; Hanai, Nobuo; Gravel, Roy A

2004-03-19

Tay-Sachs disease is an autosomal recessive neurodegenerative disease resulting from a block in the hydrolysis of GM2 ganglioside, an intermediate in ganglioside catabolism. The mouse model of Tay-Sachs disease (Hexa -/-) has been described as behaviorally indistinguishable from wild type until at least 1 year of age due to a sialidase-mediated bypass of the metabolic defect that reduces the rate of GM2 ganglioside accumulation. In this study, we have followed our mouse model to over 2 years of age and have documented a significant disease phenotype that is reminiscent of the late onset, chronic form of human Tay-Sachs disease. Onset occurs at 11-12 months of age and progresses slowly, in parallel with increasing storage of GM2 ganglioside. The disease is characterized by hind limb spasticity, weight loss, tremors, abnormal posture with lordosis, possible visual impairment, and, late in the disease, muscle weakness, clasping of the limbs, and myoclonic twitches of the head. Immunodetection of GM2 ganglioside showed that storage varies widely in different regions, but is most intense in pyriform cortex, hippocampus (CA3 field, subiculum), amygdala, hypothalamus (paraventricular supraoptic, ventromedial and arcuate nuclei, and mammilary body), and the somatosensory cortex (layer V) in 1- to 2-year-old mutant mice. We suggest that the Tay-Sachs mouse model is a phenotypically valid model of disease and may provide for a reliable indicator of the impact of therapeutic strategies, in particular geared to the late onset, chronic form of human Tay-Sachs disease.

Suicide in later life : A comparison between cases with early-onset and late-onset depression

NARCIS (Netherlands)

Voshaar, Richard C. Oude; Kapur, Nay; Bickley, Harriet; Williams, Alyson; Purandare, Nitin

Background: Suicide rates are high in elderly people with depressive disorder. We compared behavioural, clinical and care characteristics of depressed elderly patients, aged 60 years and over at the time of death by suicide, with an early-onset depression (EOD, onset before 60 years) with those

New Onset of Diabetes and Pancreatic Exocrine Insufficiency After Pancreaticoduodenectomy for Benign and Malignant Tumors: A Systematic Review and Meta-analysis of Long-term Results.

Science.gov (United States)

Beger, Hans G; Poch, Bertram; Mayer, Benjamin; Siech, Marco

2018-02-01

The aim of this study was to assess the frequency and severity of new onset of diabetes mellitus (NODM) and pancreatic exocrine insufficiency (PEI) after pancreaticoduodenectomy (PD) for benign and malignant tumors. When PD is performed on patients for benign tumors, the question of long-term metabolic dysfunctions becomes of importance. Medline/PubMed, Embase, and Cochrane Library were searched for articles reporting results of measuring endocrine and exocrine pancreatic functions after PD. The methodological quality of 19 studies was assessed by means of the Newcastle-Ottawa scale and Moga-Score. The mean weighted overall percentages of NODM and PEI after PD were calculated with a 95% confidence interval (CI). Of 1295 patients, data valid-for-efficacy-analysis are based on 845 patients measuring pancreatic endocrine and on 964 patients determining exocrine functions after PD. The cumulative incidence of NODM was 40 of 275 patients (14.5%; 95% CI: 10.3-18.7) in the benign tumor group, 25 of 161 (15.5%; 95% CI: 9.9-21.2) in the malignant tumor group, and 91 of 409 patients (22.2%; 95% CI: 18.2-26.3) in the benign and malignant tumor group. Comparing the frequency of NODM after PD revealed significant differences between the groups (benign vs benign and malignant P benign and malignant P benign and malignant tumors and a significant decrease of exocrine functions contribute to a rational weighting of metabolic long-term risks following PD.

Chronic high Epstein-Barr viral load state and risk for late-onset posttransplant lymphoproliferative disease/lymphoma in children.

Science.gov (United States)

Bingler, M A; Feingold, B; Miller, S A; Quivers, E; Michaels, M G; Green, M; Wadowsky, R M; Rowe, D T; Webber, S A

2008-02-01

Increased use of serial EBV-PCR monitoring after pediatric transplantation has led to the identification of asymptomatic patients who carry very high viral loads over prolonged periods. The significance of this high-load state is unknown. We speculated that this state may identify patients at high risk for development of late PTLD/lymphoma. We reviewed data on 71 pediatric heart recipients who had serial viral load monitoring since 1997. Chronic high-load state was defined as the presence of >16,000 genome copies/mL whole blood on > or =50% of samples over at least 6 months. Among 20 high-load carriers (eight following prior PTLD, seven with prior symptomatic EBV infection, five without previous EBV disease), 9 (45%) developed late-onset PTLD 2.5-8.4 years posttransplant (including with four Burkitt's lymphoma). Among 51 controls with low (n = 39) or absent (n = 12) loads, only 2 (4%; p < 0.001 absent/low vs. high load) developed late PTLD/lymphoma. By multivariable analysis, high-load carrier state (OR = 12.4, 95% CI 2.1-74.4) and prior history of PTLD (OR = 10.7, 95% CI 1.9-60.6) independently predicted late PTLD. A chronic high EBV-load state is not benign and is a predictor of de novo or recurrent PTLD.

Late age onset of amyotrophic lateral sclerosis is often not considered in elderly people.

Science.gov (United States)

Broussalis, E; Grinzinger, S; Kunz, A B; Killer-Oberpfalzer, M; Haschke-Becher, E; Hartung, H-P; Kraus, J

2018-03-01

Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease causing an upper and lower motor neuron loss. It is neurology textbook knowledge that the mean age of onset is about 60 years. However, recent investigations show an increasing incidence in older persons. We therefore evaluated whether ALS is potentially not considered in elderly people with ALS symptoms, respectively, not recognized. We included retrospectively all patients with ALS diagnoses after work-up that were admitted to our neurological and geriatric departments from 2007 to 2010 and collected their clinical data. The diagnosis of ALS was based on the El Escorial criteria. Patients were grouped into three categories according to age (70), and differences in clinical and/ or biographical factors were investigated. We identified 35 patients (18 men and 17 women) with a median age at onset of 71.5 years (range: 36-87 years). When establishing the diagnosis, 51% were older than 70 years, 40% (14/35) between 50 and 70, and only 9% younger than 50. Only in 46 per cent of patients who were sent to our departments with ALS symptoms ALS was considered by the referring physician. Late age onset of ALS seems to be more common than formerly assumed and is presumably under-recognized in elderly patients. ALS needs to be considered as a differential diagnosis in older patients. Potential factors accounting for older people being underdiagnosed with ALS relate to frequent presentation with symptoms like dysphagia, frailty or general weakness for other reasons. © 2017 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

Transtorno bipolar de início tardio: uma variedade orgânica do transtorno de humor? Bipolar disorder with late onset: an organic variety of mood disorder?

Directory of Open Access Journals (Sweden)

Osvaldo P Almeida

2004-10-01

Full Text Available Transtorno bipolar (TB é comumente associado à fase final da adolescência ou idade adulta jovem, embora em uma proporção substancial dos pacientes a doença comece em fases mais tardias da vida. Os resultados de várias investigações clínicas sugerem que casos de transtorno bipolar com início tardio têm, mais freqüentemente, uma "causa orgânica" e que isso justificaria a subdivisão do transtorno bipolar entre "início precoce" e "início tardio". Este artigo revê a literatura sobre a hipótese orgânica do transtorno bipolar de início tardio e conclui que essa subdivisão é artificial e carece de suporte clínico e epidemiológico.Bipolar disorder (BD is commonly associated with late adolescence or early adulthood, although a substantial proportion of patients develops the condition in later life. The results of early clinical investigations suggested that cases of bipolar disorder with onset in later life were more often associated with 'organic causes', and could potentially justify the distinction between early and late onset bipolar disorder. This paper reviews currently available evidence in support of the organic hypothesis for late onset bipolar disorder. It concludes that the split of bipolar disorder according to age at onset is artificial, and lacks clinical significance and epidemiological support.

Exploring reasons for late identification of children with early-onset hearing loss.

Science.gov (United States)

Fitzpatrick, Elizabeth M; Dos Santos, Johnny Cesconetto; Grandpierre, Viviane; Whittingham, JoAnne

2017-09-01

Several studies have shown that early identification of childhood hearing loss leads to better language outcomes. However, delays in the confirmation of hearing loss persist even in the presence of well-established universal newborn hearing screening programs (UNHS). The objective of this population-based study was to document the proportion of children who experienced delayed confirmation of congenital and early onset hearing loss in a UNHS program in one region of Canada. The study also sought to determine the reasons for delayed confirmation of hearing loss in children. Population level data related to age of first assessment, age of identification and clinical characteristics were collected prospectively for all children identified through the UNHS program. We documented the number of children who experienced delay (defined as more than 3 months) from initial audiologic assessment to confirmation of hearing loss. A detailed chart review was subsequently performed to examine the reasons for delay to confirmation. Of 418 children identified from 2003 to 2013, 182 (43.5%) presented with congenital or early onset hearing loss, of whom 30 (16.5%) experienced more than 3 months delay from initial audiologic assessment to confirmation of their hearing disorder. The median age of first assessment and confirmation of hearing loss for these 30 children was 3.7 months (IQR: 2.0, 7.6) and 13.8 months (IQR: 9.7, 26.1) respectively. Close examination of the factors related to delay to confirmation revealed that for the overwhelming majority of children, a constellation of factors contributed to late diagnosis. Several children (n = 22; 73.3%) presented with developmental/medical issues, 15 of whom also had middle ear dysfunction at assessment, and 9 of whom had documented family follow-up concerns. For the remaining eight children, additional reasons included ongoing middle ear dysfunction for five children, complicated by family follow-up concerns (n = 3) and mild

Insight into the epidemiology of cutaneous squamous cell carcinoma with perineural spread.

Science.gov (United States)

Warren, Timothy A; Whiteman, David C; Porceddu, Sandro V; Panizza, Benedict J

2016-09-01

Perineural spread (PNS) of cutaneous squamous cell carcinoma of the head and neck (SCCHN) can be associated with poor outcomes. Disease understanding and awareness is limited leading to delayed diagnosis and treatment. The purpose of this study was to identify epidemiological features of patients with PNS of cutaneous SCCHN. Tumor characteristics and demographics of patients with PNS of cutaneous SCCHN managed through a single institution were collected between 1998 and 2013. One hundred twenty patients were included in this study. The majority had a history of skin cancer (85.8%). The median time from primary tumor treatment to PNS symptom onset was 16 months (range, 1-86 months). A total of 34.2% had no perineural invasion (PNI) detected in the primary, and 22.5% had no known primary tumor. Only 5.8% of the patients had nodal involvement at presentation. Patients can present with PNS from cutaneous SCCHN with no known primary tumor or with primary tumors without PNI. The majority of patients presented without regional nodal involvement. © 2016 Wiley Periodicals, Inc. Head Neck 38: 1416-1420, 2016. © 2016 Wiley Periodicals, Inc.

A gene for late-onset fundus flavimaculatus with macular dystrophy maps to chromosome 1p13

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Gerber, S.; Rozet, J.M.; Bonneau, D.; Souied, E.; Camuzat, A.; Munnich, A.; Kaplan, J. [Hopital des Enfants Malades, Paris (France); Dufier, J.L. [Hopital Laeennec, Paris (France); Amalric, P. [Consultation d`Ophtalmologie, Albi (France); Weissenbach, J. [Genethon, Evry (France)

1995-02-01

Fundus flavimaculatus with macular dystrophy is an autosomal recessive disease responsible for a progressive loss of visual acuity in adulthood, with pigmentary changes of the macula, perimacular flecks, and atrophy of the retinal pigmentary epithelium. Since this condition shares several clinical features with Stargardt disease, which has been mapped to chromosome 1p21-p13, we tested the disease for linkage to chromosome 1p. We report the mapping of the disease locus to chromosome 1p13-p21, in the genetic interval defined by loci D1S435 and D1S415, in four multiplex families (maximum lod score 4.79 at recombination fraction 0 for probe AFM217xb2 at locus D1S435). Thus, despite differences in the age at onset, clinical course, and severity, fundus flavimaculatus with macular dystrophy and Stargardt disease are probably allelic disorders. This result supports the view that allelic mutations produce a continuum of macular dystrophies, with onset in early childhood to late adulthood. 16 refs., 3 figs., 1 tab.

Tumor attributes predicting cutaneous metastatic destiny: a report of two interesting cases.

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Gurumurthi, Ravichandran; Thirumalai, Raja; Easow, Jose M; Mohan, Subhashini

2014-07-01

Cutaneous metastases are the result of complex interaction between the tumor cells ("seed") and the host environment ("soil"). Metastases to the skin can be an early sign of internal malignancy or represent recurrence of the primary tumor and portends a poorer prognosis. Invasion and metastasis are the hallmarks of on cogenesis. Skin is the largest organ in the body, but the incidence of metastases is low. With advances in molecular biology, factors responsible for the initiation and perpetuation of metastatic tumor cells at distant sites are being elucidated. The concept of "pre-metastatic niche" and interaction between various chemokines has given a new outlook in understanding the organ specificity of metastatic tumor cells. We present two cases of cutaneous metastases with interesting clinical findings correlating with its biologic subtypes.

Stenotrophomonas maltophilia with histopathological features mimicking cutaneous gamma/delta T-cell lymphoma

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Natalie Kash

2015-01-01

Full Text Available We report a case of cutaneous Stenotrophomonas maltophilia infection which presented with clinical and histopathological findings that mimicked a gamma/delta (γδ T-cell lymphoma. In this case, tissue culture of the biopsy specimen was key to determining the diagnosis and allowing appropriate treatment with oral trimethoprim–sulfamethoxazole and topical silvadene. A prompt complete resolution of lesions was observed following antibiotic treatment, with no recurrence of disease over the last 5 years, supporting an infectious rather than malignant etiology. In our patient, radiation therapy was indicated based on the misdiagnosis of γδ T-cell lymphoma, which was supported both clinically and histopathologically. However, tissue culture in this case avoided unnecessary radiation exposure and highlights the role of tissue culture in the evaluation of the biopsy of an undiagnosed cutaneous lesion.

Risk for late-onset blood-culture proven sepsis in very-low-birth weight infants born small for gestational age: a large multicenter study from the German Neonatal Network.

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Tröger, Birte; Göpel, Wolfgang; Faust, Kirstin; Müller, Thilo; Jorch, Gerhard; Felderhoff-Müser, Ursula; Gortner, Ludwig; Heitmann, Friedhelm; Hoehn, Thomas; Kribs, Angela; Laux, Reinhard; Roll, Claudia; Emeis, Michael; Mögel, Michael; Siegel, Jens; Vochem, Matthias; von der Wense, Axel; Wieg, Christian; Herting, Egbert; Härtel, Christoph

2014-03-01

It was the aim of this study to assess whether very-low-birth-weight (VLBW) infants born small for gestational age (SGA; birth weight less than 10th percentile) are at increased risk for late-onset sepsis. This was a prospective, multicenter study of the German Neonatal Network including VLBW infants from 23 to risk with coagulase-negative staphylococci in our SGA cohort. In a multivariate logistic regression analysis, higher gestational age [per week; odds ratio (OR): 0.75, 95% confidence interval (CI): 0.72-0.78, PGerman descendance (OR: 0.76, 95% CI: 0.63-0.91, P = 0.003) and prophylaxis with glycopeptide antibiotics (OR: 0.64, 95% CI: 0.47-0.87, P = 0.005) were shown to be protective against late-onset sepsis. In contrast, longer duration of parenteral nutrition (per day; OR: 1.016, 95% CI: 1.011-1.021, P risk factors (OR: 1.31, 95% CI: 1.02-1.68, P= 0.03). SGA contributes to the risk of late-onset sepsis in VLBW infants. Future studies are needed to investigate the underlying pathophysiology to guide individualized preventive measures in this vulnerable subgroup.

Cutaneous polyarteritis nodosa: A rare isolated cutaneous vasculitis

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Praveen Kumar A Subbanna

2012-01-01

Full Text Available Cutaneous polyarteritis nodosa (CPAN is a rare form of cutaneous vasculitis that involves small and medium sized arteries of the dermis and subcutaneous tissue without systemic involvement. It presents with tender subcutaneous nodules, digital gangrene, livedo reticularis and subcutaneous ulcerations. The diagnosis is by skin biopsy and characteristic pathologic feature is a leukocytoclastic vasculitis in the small to medium-sized arterioles of the dermis. We report a rare case of benign cutaneous PAN in a 14-year-old girl who presented with history of fever, subcutaneous nodules with cutaneous ulcer and digital gangrene. The skin biopsy showed leukocytoclastic vasculitis with fibrinoid necrosis in the dermal vessels. She received treatment with steroids and lesions resolved completely over a period of month.

SOLAR RADIATION AS A RISK FACTOR FOR CUTANEOUS MELANOMA: REVIEW

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Marianna Pesce

2013-04-01

Full Text Available Melanoma is a particularly aggressive type of skin cancer, and its incidence has been increasing steadily since the 1970s. In this article we have reviewed the main risk factors for this disease in particular: sun exposure, the use of tanning beds or sunlamps and skin phototype. We also mention the importance of primary prevention in subjects at risk to reduce the onset of cutaneous melanoma.

A STUDY OF AETIOLOGICAL FACTORS IN THE OCCURRENCE OF CUTANEOUS VASCULITIS IN A TERTIARY CARE CENTRE IN NORTH KERALA

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Praveen Malayath

2017-03-01

Full Text Available BACKGROUND Cutaneous vasculitis is a condition caused by various aetiologies. They can be primary or secondary. Cutaneous lesions maybe a pointer to systemic diseases. So, it is important to identify the various aetiological factors in the occurrence of the various types of cutaneous vasculitis. The patterns and the various aetiologies of cutaneous vasculitis in Kerala is not well documented in the existing literature. MATERIALS AND METHODS The present study is a cross-sectional descriptive study of patients with a clinical diagnosis of cutaneous small vessel vasculitis admitted in Medicine and Dermatology Wards of Calicut, Government Medical College during January 2013 to December 2013. A detailed history and clinical examination of patients along with histopathological examination of skin biopsy was done. RESULTS Out of the 70 cases of cutaneous vasculitis studied, idiopathic cutaneous small vessel vasculitis was the most common type followed by Henoch-Schonlein purpura. The most common aetiology identified was drugs followed by infections. No aetiological factor was identified in 42.8% of the cases. CONCLUSION An aetiological association could be found in 57.8% of cases. The causes identified include drugs, infections, malignancy, connective tissue disorder associated, chronic systemic diseases and Behcet’s disease in decreasing order of frequency.

Late-onset Tay-Sachs disease: the spectrum of peripheral neuropathy in 30 affected patients.

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Shapiro, Barbara E; Logigian, Eric L; Kolodny, Edwin H; Pastores, Gregory M

2008-08-01

Late-onset Tay-Sachs (LOTS) disease is a chronic, progressive, lysosomal storage disorder caused by a partial deficiency of beta-hexosaminidase A (HEXA) activity. Deficient levels of HEXA result in the intracellular accumulation of GM2-ganglioside, resulting in toxicity to nerve cells. Clinical manifestations primarily involve the central nervous system (CNS) and lower motor neurons, and include ataxia, weakness, spasticity, dysarthria, dysphagia, dystonia, seizures, psychosis, mania, depression, and cognitive decline. The prevalence of peripheral nervous system (PNS) involvement in LOTS has not been well documented, but it has traditionally been thought to be very low. We examined a cohort of 30 patients with LOTS who underwent clinical and electrophysiologic examination, and found evidence of a predominantly axon loss polyneuropathy affecting distal nerve segments in the lower and upper extremities in eight patients (27%).

Admixture analysis of age of onset in generalized anxiety disorder.

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Rhebergen, Didi; Aderka, Idan M; van der Steenstraten, Ira M; van Balkom, Anton J L M; van Oppen, Patricia; Stek, Max L; Comijs, Hannie C; Batelaan, Neeltje M

2017-08-01

Age of onset is a marker of clinically relevant subtypes in various medical and psychiatric disorders. Past research has also reported that age of onset in generalized anxiety disorder (GAD) is clinically significant; but, in research to date, arbitrary cut-off ages have been used. In the present study, admixture analysis was used to determine the best fitting model for age of onset distribution in GAD. Data were derived from 459 adults with a diagnosis of GAD who took part in the Netherlands Study of Depression and Anxiety (NESDA). Associations between age of onset subtypes, identified by admixture analysis, and sociodemographic, clinical, and vulnerability factors were examined using univariate tests and multivariate logistic regression analyses. Two age of onset distributions were identified: an early-onset group (24 years of age and younger) and a late-onset group (greater than 24 years of age). Multivariate analysis revealed that early-onset GAD was associated with female gender (OR 2.1 (95%CI 1.4-3.2)), higher education (OR 1.1 (95%CI 1.0-1.2)), and higher neuroticism (OR 1.4 (95%CI 1.1-1.7)), while late-onset GAD was associated with physical illnesses (OR 1.3 (95%CI 1.1-1.7)). Study limitations include the possibility of recall bias given that age of onset was assessed retrospectively, and an inability to detect a possible very-late-onset GAD subtype. Collectively, the results of the study indicate that GAD is characterized by a bimodal age of onset distribution with an objectively determined early cut-off at 24 years of age. Early-onset GAD is associated with unique factors that may contribute to its aetiology; but, it does not constitute a more severe subtype compared to late-onset GAD. Future research should use 24 years of age as the cut-off for early-onset GAD to when examining the clinical relevance of age of onset for treatment efficacy and illness course. Copyright © 2017 Elsevier Ltd. All rights reserved.

Replication of TCF4 through association and linkage studies in late-onset Fuchs endothelial corneal dystrophy.

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Yi-Ju Li

Full Text Available Fuchs endothelial corneal dystrophy (FECD is a common, late-onset disorder of the corneal endothelium. Although progress has been made in understanding the genetic basis of FECD by studying large families in which the phenotype is transmitted in an autosomal dominant fashion, a recently reported genome-wide association study identified common alleles at a locus on chromosome 18 near TCF4 which confer susceptibility to FECD. Here, we report the findings of our independent validation study for TCF4 using the largest FECD dataset to date (450 FECD cases and 340 normal controls. Logistic regression with sex as a covariate was performed for three genetic models: dominant (DOM, additive (ADD, and recessive (REC. We found significant association with rs613872, the target marker reported by Baratz et al.(2010, for all three genetic models (DOM: P = 9.33×10(-35; ADD: P = 7.48×10(-30; REC: P = 5.27×10(-6. To strengthen the association study, we also conducted a genome-wide linkage scan on 64 multiplex families, composed primarily of affected sibling pairs (ASPs, using both parametric and non-parametric two-point and multipoint analyses. The most significant linkage region localizes to chromosome 18 from 69.94cM to 85.29cM, with a peak multipoint HLOD = 2.5 at rs1145315 (75.58cM under the DOM model, mapping 1.5 Mb proximal to rs613872. In summary, our study presents evidence to support the role of the intronic TCF4 single nucleotide polymorphism rs613872 in late-onset FECD through both association and linkage studies.

2014 CODEPEH recommendations: Early detection of late onset deafness, audiological diagnosis, hearing aid fitting and early intervention.

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Núñez-Batalla, Faustino; Jáudenes-Casaubón, Carmen; Sequí-Canet, Jose Miguel; Vivanco-Allende, Ana; Zubicaray-Ugarteche, Jose

2016-01-01

The latest scientific literature considers early diagnosis of deafness as the key element to define the educational and inclusive prognosis of the deaf child, because it allows taking advantage of the critical period of development (0-4 years). Highly significant differences exist between deaf people who have been stimulated early and those who have received late or improper intervention. Early identification of late-onset disorders requires special attention and knowledge on the part of every childcare professional. Programs and additional actions beyond neonatal screening should be designed and planed to ensure that every child with a significant hearing loss is detected early. For this purpose, the CODEPEH would like to highlight the need for continuous monitoring of children's auditory health. Consequently, CODEPEH has drafted the recommendations included in the present document. Copyright © 2015 Elsevier España, S.L.U. and Sociedad Española de Otorrinolaringología y Patología Cérvico-Facial. All rights reserved.

Preliminary Clinical and Pharmacologic Investigation of Photodynamic Therapy with the Silicon Phthalocyanine Photosensitizer Pc 4 for Primary or Metastatic Cutaneous Cancers

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Kinsella, Timothy James; Baron, Elma D.; Colussi, Valdir C.; Cooper, Kevin D.; Hoppel, Charles L.; Ingalls, Stephen T.; Kenney, Malcolm E.; Li, Xiaolin; Oleinick, Nancy L.; Stevens, Seth R.; Remick, Scot C.

2011-01-01

Photodynamic therapy (PDT) for cutaneous malignancies has been found to be an effective treatment with a range of photosensitizers. The phthalocyanine Pc 4 was developed initially for PDT of primary or metastatic cancers in the skin. A Phase I trial was initiated to evaluate the safety and pharmacokinetic profiles of systemically administered Pc 4 followed by red light (Pc 4-PDT) in cutaneous malignancies. A dose-escalation study of Pc 4 (starting dose 0.135 mg/m 2 ) at a fixed light fluence (135 J/cm 2 of 675-nm light) was initiated in patients with primary or metastatic cutaneous malignancies with the aim of establishing the maximum tolerated dose (MTD). Blood samples were taken at intervals over the first 60 h post-PDT for pharmacokinetic analysis, and patients were evaluated for toxicity and tumor response. A total of three patients (two females with breast cancer and one male with cutaneous T-cell lymphoma) were enrolled and treated over the dose range of 0.135 mg/m 2 (first dose level) to 0.54 mg/m 2 (third dose level). Grade 3 erythema within the photoirradiated area was induced in patient 2, and transient tumor regression in patient 3, in spite of the low photosensitizer doses. Pharmacokinetic observations fit a three-compartment exponential elimination model with an initial rapid distribution phase (∼0.2 h) and relatively long terminal elimination phase (∼28 h), Because of restrictive exclusion criteria and resultant poor accrual, the trial was closed before MTD could be reached. While the limited accrual to this initial Phase I study did not establish the MTD nor establish a complete pharmacokinetic and safety profile of intravenous Pc 4-PDT, these preliminary data support further Phase I testing of this new photosensitizer.

Preliminary clinical and pharmacologic investigation of photodynamic therapy with the silicon phthalocyanine photosensitizer Pc 4 for primary or metastatic cutaneous cancers

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Timothy James Kinsella

2011-06-01

Full Text Available Photodynamic therapy (PDT for cutaneous malignancies has been found to be an effective treatment with a range of photosensitizers. The phthalocyanine Pc 4 was developed initially for PDT of primary or metastatic cancers in the skin. A Phase I trial was initiated to evaluate the safety and pharmacokinetic profiles of systemically administered Pc 4 followed by red light (Pc 4-PDT in cutaneous malignancies. A dose-escalation study of Pc 4 (starting dose 0.135 mg/m2 at a fixed light fluence (135 J/cm2 of 675-nm light was initiated in patients with primary or metastatic cutaneous malignancies with the aim of establishing the maximum tolerated dose (MTD. Blood samples were taken at intervals over the first 60 hours post-PDT for pharmacokinetic analysis, and patients were evaluated for toxicity and tumor response. A total of 3 patients (2 females with breast cancer and 1 male with cutaneous lymphoma were enrolled and treated over the dose range of 0.135 mg/m2 (first dose level to 0.54 mg/m2 (third dose level. Grade 3 erythema within the photoirradiated area was induced in patient 2, and transient tumor regression in patient 3, in spite of the low photosensitizer doses. Pharmacokinetic observations fit a 3-compartment exponential elimination model with an initial rapid distribution phase (~0.2 hrs and relatively long terminal elimination phase (~28 hrs, Because of restrictive exclusion criteria and resultant poor accrual, the trial was closed before MTD could be reached. While the limited accrual to this initial Phase I study did not establish the MTD nor establish a complete pharmacokinetic and safety profile of intravenous Pc 4-PDT, these preliminary data support further Phase I testing of this new photosensitizer.

Cutaneous expression of systemic candidiasis.

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Pedraz, J; Delgado-Jiménez, Y; Pérez-Gala, S; Nam-Cha, S; Fernández-Herrera, J; García-Diez, A

2009-01-01

Skin lesions associated with Candida septicaemia occur only in a minority of patients, who are usually immunocompromised, but they can help to establish a diagnosis rapidly. The lesions form a characteristic maculopapular or nodular rash at the onset of the infection. We report three cases of systemic candidiasis (SC) with cutaneous manifestations in immunocompromised patients. In these patients, the lesions started as asymptomatic or slightly pruriginous macules, papules or nodules localized on the trunk and extremities. The patients' general condition was very poor and they presented a high fever at the onset of the illness. Candida spp. were isolated from blood in all cases, and histology showed yeasts in two of them. Most of the lesions resolved with antifungal treatment. The diagnosis of SC is often delayed or missed because of the absence of useful diagnostic tools, the varying clinical manifestations and the frequent negativity (50-75%) of blood cultures for Candida. Fluconazole is the treatment of choice for Candida albicans, but treatment response is unknown for other Candida spp., which may require treatment with amphotericin B.

Cutaneous ulcers associated with hydroxyurea therapy.

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Quattrone, Filippo; Dini, Valentina; Barbanera, Sabrina; Zerbinati, Nicola; Romanelli, Marco

2013-11-01

Hydroxyurea is an antitumoral drug mainly used in the treatment of Philadelphia chromosome-negative myeloproliferative syndromes and sickle-cell disease. Ulcers represent a rare but severe long-term adverse effect of hydroxyurea therapy. Hydroxyurea-induced ulcers are often multiple and bilateral, typically developing in the perimalleolar region, although any cutaneous district is potentially affected. They generally look small, well-defined, shallow with an adherent, yellow, fibrinous necrotic base. A constant finding is also an extremely intense, treatment-resistant pain accompanying these ulcerations. Withdrawal of the drug generally leads to spontaneous healing of these lesions. Care providers tend to show insufficient awareness of this highly debilitating cutaneous side effect, and late or missed diagnoses are frequent. Instead, regular dermatologic screening should be performed on hydroxyurea-treated patients. This article will present a comprehensive review of indexed case reports and clinical studies, followed by a discussion about treatment options aiming at increasing knowledge about this specific topic. Copyright © 2013 Tissue Viability Society. Published by Elsevier Ltd. All rights reserved.

Ventilatory Response to Hypercapnia Predicts Dementia with Lewy Bodies in Late-Onset Major Depressive Disorder.

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Takahashi, Sho; Mizukami, Katsuyoshi; Arai, Tetsuaki; Ogawa, Ryoko; Kikuchi, Norihiro; Hattori, Satoshi; Darby, David; Asada, Takashi

2016-01-01

Studies have shown that developing major depressive disorder (MDD) at 50 years of age or older can predict dementia. Depression is particularly common in dementia with Lewy bodies (DLB), and occasionally occurs before the onset of extrapyramidal symptoms. Moreover, systemic autonomic dysfunction, including an abnormal ventilatory response to hypercapnia (VRH), is common in patients with DLB. Here, we aimed to determine whether the VRH is useful for distinguishing depression that is predictive of DLB from other types of MDD. Participants were 35 consecutive patients with first onset MDD at 50 years or older with bradykinesia. After diagnosing the clinical subtype of MDD according to DSM-IV criteria, each subject underwent a battery of psychological tests, autonomic examinations including VRH, brain magnetic resonance imaging, and 123I-meta-iodobenzylguanidine scintigraphy. Longitudinal follow-up showed that all 18 patients with abnormal VRH results developed DLB, whereas none of the 17 patients with normal VRH results converted to DLB within the study period (sensitivity: 100% , specificity: 100%). Additionally, over half of the DLB converters showed abnormalities on other autonomic examinations. For converters, the most common MDD subtype had psychotic and melancholic features simultaneously. The frequency of hypersensitivity to psychotropics was higher in converters than it was in non-converters. In the present study, patients with abnormal VRH results were very likely to develop DLB. Thus, for patients with late-onset MDD accompanied by bradykinesia, the VRH in combination with the clinical subtype of MDD or hypersensitivity to psychotropics may be useful for diagnosing prodromal DLB.

Acne in late adolescence is not associated with a raised risk of subsequent malignant melanoma among men.

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Mota Garcia, Teresa; Hiyoshi, Ayako; Udumyan, Ruzan; Sjöqvist, Hugo; Fall, Katja; Montgomery, Scott

2017-12-01

To evaluate the association of acne in late adolescence with the risk for subsequent malignant melanoma (MM) in men. Swedish register-based cohort study of 242,096 males born between 1952 and 1956, who took part in compulsory assessments for Swedish military conscription in late adolescence between 1969 and 1975, with subsequent diagnoses of MM (n=1,058) up to December 31, 2009. Covariates included measures of childhood circumstances and information from adolescence on presence of acne, physical fitness, cognitive function, body mass index (BMI), and a summary of diagnoses. Cox regression was used for the analysis. In total 1,058 men were diagnosed with MM. Acne was not associated with subsequent MM, with an adjusted hazard ratio (and 95% confidence interval) of 0.95 (0.61 to 1.49). Men with parents who were agricultural workers, and men who lived in northern Sweden, had lower physical fitness, or lower cognitive function had a lower risk of MM. Overweight and obesity was associated with a raised risk, with an adjusted hazard ratio of 1.39 (1.14, 1.71). Acne in late adolescence is unlikely to represent a raised risk for subsequent MM in men. Overweight or obesity was identified as a raised risk for MM, possibly due to the associated increased skin surface area. Copyright © 2017 Elsevier Ltd. All rights reserved.

Reflectance spectroscopy of pigmented cutaneous benign and malignant lesions

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Borisova, E.; Jeliazkova, Al.; Pavlova, E.; Troyanova, P.; Kundurdjiev, T.; Pavlova, P.; Avramov, L.

2014-10-01

For the DRS measurements of skin benign, dysplastic and malignant lesions in vivo we applied halogen lamp (LS-1, OceanOptics Inc, Dunedin, Fl, USA) as a continuous light source in the region of 400-900 nm, optical probe (6+1 fibers) for the delivery of illumination and diffuse reflected light from the skin investigated and microspectrometer USB4000 (OceanOptics Inc., Dunedin, Fl, USA) for a storage and display of the spectra detected. As a diffuse reflectance standard Spectralon® plate was used to calibrate the spectrometer. The reflectance spectra obtained from normal skin in identical anatomic sites of different patients have similar spectral shape features, slightly differ by the reflectance intensity at different wavelengths, depending on the particular patient' skin phototype. One could find diagnostically important spectral features, related to specific intensity changes for a given wavelength due to specific pigments appearance, slope changes by value and sign for the reflectance spectra curves in a specific spectral range, disappearance or manifestation of minima, related to hemoglobin absorption at 410-420 nm, 543, 575 nm. Based on the observed peculiarities multispectral analysis of the reflectance spectra of the different lesions was used and diagnostically specific features are found. Discrimination using the DRS data obtained between benign compound and dermal nevi (45 cases), dysplastic nevi (17 cases) and pigmented malignant melanoma (41 cases) lesions is achieved with a diagnostic accuracy of 96 % for the benign nevi vs. MM, and 90 % for the dysplastic nevi vs. MM.

Early-onset childhood sarcoidosis: a case report

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Lai-San Wong

2011-12-01

Full Text Available Sarcoidosis is a multisystemic granulomatous disease of unknown etiology and it most commonly affects young adults. Childhood sarcoidosis is relatively rare; older children usually present a picture similar to that of adults, with frequent hilar lymphadenopathy and pulmonary infiltration. Early-onset (<4 years of age childhood sarcoidosis is a unique disease and has a different presentation. It is characterized by arthritis, uveitis, and cutaneous involvement. The prognosis of early-onset childhood sarcoidosis varies in different studies due to the rarity of the disease. The treatment of choice in systemic involvement of childhood sarcoidosis is corticosteroids. Methotrexate can also be considered in the long-term treatment due to its safety, effectiveness, and steroid-sparing effect in children.

A treatable cause of myelopathy and vision loss mimicking neuromyelitis optica spectrum disorder: late-onset biotinidase deficiency.

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Yilmaz, Sanem; Serin, Mine; Canda, Ebru; Eraslan, Cenk; Tekin, Hande; Ucar, Sema Kalkan; Gokben, Sarenur; Tekgul, Hasan; Serdaroglu, Gul

2017-06-01

Biotinidase deficiency is characterized by severe neurological manifestations as hypotonia, lethargy, ataxia, hearing loss, seizures and developmental retardation in its classical form. Late-onset biotinidase deficiency presents distinctly from the classical form such as limb weakness and vision problems. A 14-year-old boy presented with progressive vision loss and upper limb weakness. The patient was initiated steroid therapy with a preliminary diagnosis of neuromyelitis optica spectrum disorder due to the craniospinal imaging findings demonstrating optic nerve, brainstem and longitudinally extensive spinal cord involvement. Although the patient exhibited partial clinical improvement after pulse steroid therapy, craniocervical imaging performed one month after the initiation of steroid therapy did not show any regression. The CSF IgG index was <0.8 (normal: <0.8), oligoclonal band and aquaporin-4 antibodies were negative. Metabolic investigations revealed a low biotinidase enzyme activity 8% (0.58 nmoL/min/mL; normal range: 4.4 to 12). Genetic testing showed c.98-104delinsTCC and p.V457 M mutations in biotinidase (BTD) gene. At the third month of biotin replacement therapy, control craniospinal MRI demonstrated a complete regression of the lesions. The muscle strength of the case returned to normal. His visual acuity was 7/10 in the left eye and 9/10 in the right. The late-onset form of the biotinidase deficiency should be kept in mind in all patients with myelopathy with or without vision loss, particularly in those with inadequate response to steroid therapy. The family screening is important to identify asymptomatic individuals and timely treatment.

Agenesis of the internal carotid artery with a trans-sellar anastomosis: CT and MRI findings in late-onset congenital hypopituitarism

International Nuclear Information System (INIS)

Mellado, J.M.; Merino, X.; Ramos, A.; Salvado, E.; Sauri, A.

2001-01-01

A 29-year-old woman with a history of hypothyroidism since early childhood developed hypopituitarism. CT and MRI revealed anterior pituitary hypoplasia, an ectopic posterior lobe, a Chiari I malformation and agenesis of the right internal carotid artery with a trans-sellar anastomosis. This constellation of findings constitutes a previously unreported association in congenital hypopituitarism of late onset. The usefulness of imaging modalities and the pathogenic implications are also discussed. (orig.)

Diagnosis and therapy of cutaneous radiation syndrome. Individual radiosensitivity assessment in patients undergoing medical exposures presenting severe cutaneous radiation induced lesions

International Nuclear Information System (INIS)

Di Giorgio, Marina; Vallerga, Maria B.; Perez, Maria R.; Portas, Mercedes

2007-01-01

Hospital de Quemados del Gobierno de la Ciudad de Buenos Aires (Burn Center) is one of the reference hospitals of the Medical Radiological Emergency Response Network of Argentina. In the frame of an agreement between the Burn Center and the Nuclear Regulatory Authority of Argentina, a research project for an approach based on diagnosis and therapy of cutaneous radiation induced lesions is in progress. Individual radiosensitivity assessment was conducted in patients included in this research protocol that showed acute and/or late cutaneous reactions with grades 3 and 4 of the Toxicity criteria of the Radiation Therapy Oncology Group (RTOG) and the European organization for research and treatment of cancer (EORTC). DNA repair capacity and its kinetics were evaluated in human peripheral blood lymphocytes using alkaline comet assay and micronucleus test. In this paper, two representative cases, in which the research protocol was applied, are presented. Therapeutic response and its correlation with radiosensitivity test results are described. Case 1: female patient undergoing external radiotherapy for invasive ductal breast cancer that presented acute cutaneous radiotoxicity, grade 3 (confluent moist epithelitis, )that led to treatment break. Case 2: male patient undergoing coronary angioplasty (interventional radiology), which developed late cutaneous radiotoxicity, grade 4 (ulceration at the dorsal region). Patients were treated with: topic administration of trolamine and silver sulfadiazine with lidocaine, associated with systemic administration of pentoxiphiline and anti-oxidants. The therapeutic response was evaluated through clinical follow-up, serial photographic record and complementary tests (tele thermography and high frequency ultrasonography). Case 1 response was positive (favorable) with early local recovery and complete remission of signs and symptoms after 5 months. Both MN frequencies and comet assay showed values compatible with normal radiosensitivity

Computational modeling predicts the ionic mechanism of late-onset responses in Unipolar Brush Cells

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Sathyaa eSubramaniyam

2014-08-01

Full Text Available Unipolar Brush Cells (UBCs have been suggested to have a strong impact on cerebellar granular layer functioning, yet the corresponding cellular mechanisms remain poorly understood. UBCs have recently been reported to generate, in addition to early-onset glutamatergic synaptic responses, a late-onset response (LOR composed of a slow depolarizing ramp followed by a spike burst (Locatelli et al., 2013. The LOR activates as a consequence of synaptic activity and involves an intracellular cascade modulating H- and TRP-current gating. In order to assess the LOR mechanisms, we have developed a UBC multi-compartmental model (including soma, dendrite, initial segment and axon incorporating biologically realistic representations of ionic currents and a generic coupling mechanism regulating TRP and H channel gating. The model finely reproduced UBC responses to current injection, including a low-threshold spike sustained by CaLVA currents, a persistent discharge sustained by CaHVA currents, and a rebound burst following hyperpolarization sustained by H- and CaLVA-currents. Moreover, the model predicted that H- and TRP-current regulation was necessary and sufficient to generate the LOR and its dependence on the intensity and duration of mossy fiber activity. Therefore, the model showed that, using a basic set of ionic channels, UBCs generate a rich repertoire of delayed bursts, which could take part to the formation of tunable delay-lines in the local microcircuit.

Computational modeling predicts the ionic mechanism of late-onset responses in unipolar brush cells.

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Subramaniyam, Sathyaa; Solinas, Sergio; Perin, Paola; Locatelli, Francesca; Masetto, Sergio; D'Angelo, Egidio

2014-01-01

Unipolar Brush Cells (UBCs) have been suggested to play a critical role in cerebellar functioning, yet the corresponding cellular mechanisms remain poorly understood. UBCs have recently been reported to generate, in addition to early-onset glutamate receptor-dependent synaptic responses, a late-onset response (LOR) composed of a slow depolarizing ramp followed by a spike burst (Locatelli et al., 2013). The LOR activates as a consequence of synaptic activity and involves an intracellular cascade modulating H- and TRP-current gating. In order to assess the LOR mechanisms, we have developed a UBC multi-compartmental model (including soma, dendrite, initial segment, and axon) incorporating biologically realistic representations of ionic currents and a cytoplasmic coupling mechanism regulating TRP and H channel gating. The model finely reproduced UBC responses to current injection, including a burst triggered by a low-threshold spike (LTS) sustained by CaLVA currents, a persistent discharge sustained by CaHVA currents, and a rebound burst following hyperpolarization sustained by H- and CaLVA-currents. Moreover, the model predicted that H- and TRP-current regulation was necessary and sufficient to generate the LOR and its dependence on the intensity and duration of mossy fiber activity. Therefore, the model showed that, using a basic set of ionic channels, UBCs generate a rich repertoire of bursts, which could effectively implement tunable delay-lines in the local microcircuit.

Early- versus Late-Onset Alzheimer Disease: Long-Term Functional Outcomes, Nursing Home Placement, and Risk Factors for Rate of Progression

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Carina Wattmo

2017-05-01

Full Text Available Background/Aims: Whether age at onset influences functional deterioration in Alzheimer disease (AD is unclear. We, therefore, investigated risk factors for progression in activities of daily living (ADL and nursing home placement (NHP in cholinesterase inhibitor (ChEI-treated patients with early-onset AD (EOAD versus late-onset AD (LOAD. Methods: This 3-year, prospective, observational, multicenter study included 1,017 participants with mild-to-moderate AD; 143 had EOAD (onset <65 years and 874 LOAD (onset ≥65 years. Possible sociodemographic and clinical factors that could affect functional outcome and NHP were analyzed using mixed-effects models and logistic regression, respectively. Results: Younger individuals exhibited longer illness duration before AD diagnosis, whereas 6-month functional response to ChEI therapy, 3-year changes in ADL capacities, time from diagnosis to NHP, and survival time in nursing homes were similar between the groups. In LOAD, a higher ChEI dose, no antidepressant use, and lower education level were protective factors for slower instrumental ADL (IADL decline. In EOAD, antihypertensives/cardiac therapy implied faster IADL progression but lower risk of NHP. Conclusion: This study highlights the clinical importance of an earlier diagnosis and treatment initiation and the need for functional evaluations in EOAD. Despite the age differences between EOAD and LOAD, a similar need for nursing homes was observed.

Age-specific epigenetic drift in late-onset Alzheimer's disease.

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Sun-Chong Wang

Full Text Available Despite an enormous research effort, most cases of late-onset Alzheimer's disease (LOAD still remain unexplained and the current biomedical science is still a long way from the ultimate goal of revealing clear risk factors that can help in the diagnosis, prevention and treatment of the disease. Current theories about the development of LOAD hinge on the premise that Alzheimer's arises mainly from heritable causes. Yet, the complex, non-Mendelian disease etiology suggests that an epigenetic component could be involved. Using MALDI-TOF mass spectrometry in post-mortem brain samples and lymphocytes, we have performed an analysis of DNA methylation across 12 potential Alzheimer's susceptibility loci. In the LOAD brain samples we identified a notably age-specific epigenetic drift, supporting a potential role of epigenetic effects in the development of the disease. Additionally, we found that some genes that participate in amyloid-beta processing (PSEN1, APOE and methylation homeostasis (MTHFR, DNMT1 show a significant interindividual epigenetic variability, which may contribute to LOAD predisposition. The APOE gene was found to be of bimodal structure, with a hypomethylated CpG-poor promoter and a fully methylated 3'-CpG-island, that contains the sequences for the epsilon4-haplotype, which is the only undisputed genetic risk factor for LOAD. Aberrant epigenetic control in this CpG-island may contribute to LOAD pathology. We propose that epigenetic drift is likely to be a substantial mechanism predisposing individuals to LOAD and contributing to the course of disease.

Vorinostat approved in Japan for treatment of cutaneous T-cell lymphomas: status and prospects

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Sato A

2012-04-01

Full Text Available Akinori SatoDepartment of Urology, National Defense Medical College, 3-2 Namiki, Tokorozawa, Saitama 359-8513, JapanAbstract: Histone acetylation and deacetylation play important roles in the regulation of gene transcription and in the modulation of chromatin structure. The levels of histone acetylation are determined by the activities of histone acetyltransferases and histone deacetylases (HDACs. HDACs are associated with a number of oncogenes and tumor suppressor genes and can be aberrantly expressed and/or inappropriately activated in cancer cells. HDAC inhibitors have therefore recently emerged as a novel treatment modality against malignancies. They regulate gene expression by enhancing the acetylation of not only histones but also nonhistone proteins, including transcription factors, transcription regulators, signal transduction mediators, and DNA repair enzymes, and they inhibit cancer growth. Vorinostat (suberoylanilide hydroxamic acid is one of the most potent HDAC inhibitors, and was approved in Japan in 2011 for the treatment of cutaneous T-cell lymphoma. Numerous clinical trials have shown it to be effective against cutaneous T-cell lymphoma but less so against other types of cancer. Because vorinostat can overcome resistance to or enhance the efficacy of other anticancer agents, such as 5-fluorouracil, carboplatin, paclitaxel, bortezomib, and tamoxifen, combination therapies using vorinostat and these agents have been investigated. This review introduces the background and mechanism of action of vorinostat and describes the results of clinical trials using vorinostat, both as a single agent and in combination with other anticancer agents, against cutaneous T-cell lymphoma and other malignancies.Keywords: vorinostat, T-cell lymphoma, cancer, novel treatment

Ewing's Sarcoma and Second Malignancies

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Joshua D. Schiffman

2011-01-01

Full Text Available Ewing's sarcoma (ES is a rare tumor that is most common in children and young adults. Late effects of ES therapy include second cancers, a tragic outcome for survivors of such a young age. This paper will explore the frequencies and types of malignancies that occur after ES. Additionally, it will review how second malignancies have changed with the shift in treatment from high-dose radiation to chemotherapy regimens including alkylators and epipodophyllotoxins. The risk of additional cancers in ES survivors will also be compared to survivors of other childhood cancers. Finally, the possible genetic contribution to ES and second malignancies will be discussed.

Suspected Pulmonary Metastasis of Actinic Cutaneous Squamous Cell Carcinoma

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Monet E. Meter

2017-01-01

Full Text Available Introduction. It is rare for actinic or squamous cell carcinoma (SCC in situ to metastasize. Case Presentation. A 67-year-old male had a significant medical history including severe psoriatic arthritis treated with UVB, methotrexate, and rapamycin. He had twenty-five different skin excisions of actinic keratosis four of which were invasive SCC. Our patient developed shortness of breath necessitating a visit to the emergency department. A CT scan of his chest revealed a mass in the right lower lung. A subsequent biopsy of the mass revealed well-differentiated SCC. He underwent thoracoscopic surgery with wedge resection of the lung lesion. Discussion. Actinic keratosis (AK is considered precancerous and associated with UV exposure. It exists as a continuum of progression with low potential for malignancy. The majority of invasive SCCs are associated with malignant progression of AK, but only 5–10% of AKs will progress to malignant potential. Conclusion. In this case, a new finding of lung SCC in the setting of multiple invasive actinic cutaneous SCC associated with a history of extensive UV light exposure and immunosuppression supports a metastatic explanation for lung cancer.

Sarcomas cutâneos primários Primary cutaneous sarcomas

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Luiz Fernando Fróes Fleury Jr

2006-06-01

Full Text Available Os sarcomas com apresentação cutânea primária são tumores raros e de grande heterogeneidade histológica. Com a evolução da oncologia cutânea e da cirurgia dermatológica, os dermatologistas têm sido cada vez mais requisitados para o diagnóstico e orientação terapêutica de tumores menos freqüentes. Este artigo de revisão analisa os sarcomas cutâneos primários observando suas características clínicas, etiopatogênicas e histológicas, bem como aspectos do tratamento e evolução. Enfatiza os sarcomas de maior relevância para o dermatologista, como angiossarcoma, dermatofibrossarcoma protuberans, fibroxantoma atípico, leiomiossarcoma, lipossarcoma, tumor maligno de bainha de nervo periférico e sarcoma epitelióide. O sarcoma de Kaposi não é abordado devido a suas características individuais específicas.Soft tissue tumors represent a heterogeneous group of mesenchymal and neural lesions. The cutaneous presentation of these tumours is rare. With the evolution of dermatologic surgery and cutaneous oncology, dermatologists have emerged as specialists for skin cancer management. This article reviews primary cutaneous sarcomas with particular emphasis on the epidemiologic, clinical, and histological features of diagnosis, as well as treatment modalities and prognosis. The most frequent cutaneous sarcomas were reviewed, including angiosarcoma, dermatofibrosarcoma protuberans, atypical fibroxanthoma, leiomyosarcoma, liposarcoma, malignant nerve sheath tumor, and epithelioid sarcoma. Kaposi's sarcoma, due to specific characteristics, was omitted from this review.

Morphea in Adults and Children Cohort VI: A cross-sectional comparison of outcomes between adults with pediatric-onset and adult-onset morphea

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Condie, Daniel; Grabell, Daniel; Jacobe, Heidi

2014-01-01

Objective Few studies have looked at outcomes of adults with pediatric-onset morphea. The objective of the present study was to compare clinical outcomes and health-related quality of life in adults with pediatric-onset morphea to those of patients with adult-onset morphea. Methods Participants in the study were drawn from the Morphea in Adults and Children Cohort and included 68 adults with pediatric-onset morphea and 234 patients with adult-onset morphea. Outcome measures included the Localized Scleroderma Cutaneous Assessment Tool (LoSCAT), physical exam findings, and quality of life questionnaires. Results Adults with pediatric-onset morphea were younger, had longer disease duration, and were more likely to have the linear subtype of morphea. Patients with pediatric-onset disease were less likely to have active disease. Among patients with active disease, those with pediatric-onset morphea had less disease activity as measured by the LoSCAT. Patients with pediatric-onset disease had higher disease damage as measured by the Physician Global Assessment of Damage, but similar disease damage as measured by the Localized Scleroderma Skin Damage Index. Patients with pediatric-onset disease had more favorable quality of life scores for all measures that reached statistical significance. Conclusion Adults with pediatric-onset morphea differ from patients with adult-onset disease with respect to subtype, disease activity, disease damage, and health-related quality of life. PMID:25156342

Radiophosphorus (32P)-test on precancerosis and malignant tumors of the skin

International Nuclear Information System (INIS)

Biersack, H.J.; Rodermund, O.E.; Meurin, G.; Winkler, C.; Bonn Univ.

1976-01-01

In 21 patients with a variety of skin tumors (squamous cell carcinomas, malignant melanomas, basal cell epitheliomas and mycosis fungoides) or precancerous lesions (Bowen's disease, actinic keratosis, junctional nevus cell nevus) the radioactive phosphorus uptake test demonstrates a sign ficantly increased concentration of P 32 in those tumors. There were no false negative tests. The possibility of differentiation of malignant melanoma from benign nevus cell nevus and the early recognition of cutaneous metastases is described. Furthermore recurrence of previously irradiated or excised basal cell epitheliomas can be detected without a biopsy. No hematological side-effects were observed. (orig.) [de

Estrogen and early-onset Alzheimer's disease

NARCIS (Netherlands)

A.J.C. Slooter (Arjen); J.B. Bronzova (Juliana); A. Hofman (Albert); C. van Broeckhoven (Christine); C.M. van Duijn (Cornelia); J.C.M. Witteman (Jacqueline)

1999-01-01

textabstractEstrogen use may be protective for Alzheimer's disease with late onset. However, the effects on early onset Alzheimer's disease are unclear. This issue was studied in a population based setting. For each female patient, a female control was matched on age (within 5 years) and place of

Adverse cutaneous reactions induced by TNF-alpha antagonist therapy.

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Borrás-Blasco, Joaquín; Navarro-Ruiz, Andrés; Borrás, Consuelo; Casterá, Elvira

2009-11-01

To review adverse cutaneous drug reactions induced by tumor necrosis factor alpha (TNF-alpha) antagonist therapy. A literature search was performed using PubMed (1996-March 2009), EMBASE, and selected MEDLINE Ovid bibliography searches. All language clinical trial data, case reports, letters, and review articles identified from the data sources were used. Since the introduction of TNF-alpha antagonist, the incidence of adverse cutaneous drug reactions has increased significantly. A wide range of different skin lesions might occur during TNF-alpha antagonist treatment. New onset or exacerbation of psoriasis has been reported in patients treated with TNF-alpha antagonists for a variety of rheumatologic conditions. TNF-alpha antagonist therapy has been associated with a lupus-like syndrome; most of these case reports occurred in patients receiving either etanercept or infliximab. Serious skin reactions such as erythema multiforme, Stevens-Johnson syndrome, and toxic epidermal necrolysis have been reported rarely with the use of TNF-alpha antagonists. As the use of TNF-alpha antagonists continues to increase, the diagnosis and management of cutaneous side effects will become an increasingly important challenge. In patients receiving TNF-alpha antagonist treatment, skin disease should be considered, and clinicians need to be aware of the adverse reactions of these drugs.

Gamma c-signaling cytokines induce a regulatory T cell phenotype in malignant CD4+ T lymphocytes

DEFF Research Database (Denmark)

Kasprzycka, Monika; Zhang, Qian; Witkiewicz, Agnieszka

2008-01-01

In this study, we demonstrate that malignant mature CD4(+) T lymphocytes derived from cutaneous T cell lymphomas (CTCL) variably display some aspects of the T regulatory phenotype. Whereas seven cell lines representing a spectrum of primary cutaneous T cell lymphoproliferative disorders expressed...... that FOXP3-expressing cells were common among the CD7-negative enlarged atypical and small lymphocytes at the early skin patch and plaque stages. Their frequency was profoundly diminished at the tumor stage and in the CTCL lymph node lesions with or without large cell transformation. These results indicate...

The development of youth-onset severe obesity in urban US girls

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Kathleen M. McTigue

2015-12-01

Conclusions: Youth-onset severe obesity warrants particular concern in urban girls due to high prevalence and an increasing secular prevalence trend. Late childhood and early adolescence may represent a key developmental window for prevention and treatment, but is too late to prevent youth-onset severe obesity entirely.

Recessive variants of MuSK are associated with late onset CMS and predominant limb girdle weakness.

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Owen, David; Töpf, Ana; Preethish-Kumar, Veeramani; Lorenzoni, Paulo José; Vroling, Bas; Scola, Rosana Herminia; Dias-Tosta, Elza; Geraldo, Argemiro; Polavarapu, Kiran; Nashi, Saraswati; Cox, Daniel; Evangelista, Teresinha; Dawson, John; Thompson, Rachel; Senderek, Jan; Laurie, Steven; Beltran, Sergi; Gut, Marta; Gut, Ivo; Nalini, Atchayaram; Lochmüller, Hanns

2018-04-28

Congenital myasthenic syndrome (CMS) is a heterogeneous disorder that causes fatigable muscle weakness. CMS has been associated with variants in the MuSK gene and, to date, 16 patients have been reported. MuSK-CMS patients present a different phenotypic pattern of limb girdle weakness. Here, we describe four additional patients and discuss the phenotypic and clinical relationship with those previously reported. Two novel damaging missense variants are described: c.1742T > A; p.I581N found in homozygosis, and c.1634T > C; p.L545P found in compound heterozygosis with p.R166*. The reported patients had predominant limb girdle weakness with symptom onset at 12, 17, 18, and 30 years of age, and the majority exhibited a good clinical response to Salbutamol therapy, but not to esterase inhibitors. Meta-analysis including previously reported variants revealed an increased likelihood of a severe, respiratory phenotype with null alleles. Missense variants exclusively affecting the kinase domain, but not the catalytic site, are associated with late onset. These data refine the phenotype associated with MuSK-related CMS. © 2018 Wiley Periodicals, Inc.

Early-versus Late-Onset Alzheimer Disease: Long-Term Functional Outcomes, Nursing Home Placement, and Risk Factors for Rate of Progression.

Science.gov (United States)

Wattmo, Carina; Wallin, Åsa K

2017-01-01

Whether age at onset influences functional deterioration in Alzheimer disease (AD) is unclear. We, therefore, investigated risk factors for progression in activities of daily living (ADL) and nursing home placement (NHP) in cholinesterase inhibitor (ChEI)-treated patients with early-onset AD (EOAD) versus late-onset AD (LOAD). This 3-year, prospective, observational, multicenter study included 1,017 participants with mild-to-moderate AD; 143 had EOAD (onset factors that could affect functional outcome and NHP were analyzed using mixed-effects models and logistic regression, respectively. Younger individuals exhibited longer illness duration before AD diagnosis, whereas 6-month functional response to ChEI therapy, 3-year changes in ADL capacities, time from diagnosis to NHP, and survival time in nursing homes were similar between the groups. In LOAD, a higher ChEI dose, no antidepressant use, and lower education level were protective factors for slower instrumental ADL (IADL) decline. In EOAD, antihypertensives/cardiac therapy implied faster IADL progression but lower risk of NHP. This study highlights the clinical importance of an earlier diagnosis and treatment initiation and the need for functional evaluations in EOAD. Despite the age differences between EOAD and LOAD, a similar need for nursing homes was observed.

Exposure to waterborne Cu inhibits cutaneous Na⁺ uptake in post-hatch larval rainbow trout (Oncorhynchus mykiss).

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Zimmer, Alex M; Brauner, Colin J; Wood, Chris M

2014-05-01

In freshwater rainbow trout (Oncorhynchus mykiss), two common responses to acute waterborne copper (Cu) exposure are reductions in ammonia excretion and Na(+) uptake at the gills, with the latter representing the likely lethal mechanism of action for Cu in adult fish. Larval fish, however, lack a functional gill following hatch and rely predominantly on cutaneous exchange, yet represent the most Cu-sensitive life stage. It is not known if Cu toxicity in larval fish occurs via the skin or gills. The present study utilized divided chambers to assess cutaneous and branchial Cu toxicity over larval development, using disruptions in ammonia excretion (Jamm) and Na(+) uptake (Jin(Na)) as toxicological endpoints. Early in development (early; 3 days post-hatch; dph), approximately 95% of Jamm and 78% of Jin(Na) occurred cutaneously, while in the late developmental stage (late; 25 dph), the gills were the dominant site of exchange (83 and 87% of Jamm and Jin(Na), respectively). Exposure to 50 μg/l Cu led to a 49% inhibition of Jamm in the late developmental stage only, while in the early and middle developmental (mid; 17 dph) stages, Cu had no effect on Jamm. Jin(Na), however, was significantly inhibited by Cu exposure at the early (53% reduction) and late (47% reduction) stages. Inhibition at the early stage of development was mediated by a reduction in cutaneous uptake, representing the first evidence of cutaneous metal toxicity in an intact aquatic organism. The inhibitions of both Jamm and Jin(Na) in the late developmental stage occurred via a reduction in branchial exchange only. The differential responses of the skin and gills to Cu exposure suggest that the mechanisms of Jamm and Jin(Na) and/or Cu toxicity differ between these tissues. Exposure to 20μg/l Cu revealed that Jamm is the more Cu-sensitive process. The results presented here have important implications in predicting metal toxicity in larval fish. The Biotic Ligand Model (BLM) is currently used to predict

Choroidal and Cutaneous Metastasis from Urothelial Carcinoma of the Bladder after Radical Cystectomy: A Case Report and Literature Review

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Yozo Mitsui

2014-01-01

Full Text Available Bladder cancer is the second most common genitourinary malignancy and has variable metastatic potential; however, choroidal and cutaneous metastases are extremely rare. Generally, a patient with these uncommon metastases has a very poor prognosis. We present a bladder cancer patient with a visual disorder in the right eye and multiple nodules on head and lower abdomen that developed 17 months after a radical cystectomy. These symptoms were determined to be caused by choroidal and cutaneous metastasis of bladder cancer. Although two cycles of combination chemotherapy were performed, the patient died 5 months after diagnosis of multiple metastases.

Malignant Transformation of Nodular Hidradenoma in the Lower Leg

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Nhuan Ngo

2018-05-01

Full Text Available Nodular hidradenoma (NH is a benign adnexal tumor that arises from either eccrine or apocrine sweat glands. NH can originate from any cutaneous site, but the most common sites are the head and anterior surface of the trunk, with very rare cases in the extremities. Long-standing NH has been reported to undergo malignant transformation to malignant NH (MNH; however, its occurrence in the lower leg is extremely rare with only one other case reported to date. In this report, we present a rare case of MNH occurring in the lower leg which was resected with the intent to make a diagnosis. At the final follow-up after 11 months, no local recurrence or metastasis has been observed.