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1.
Cureus ; 14(7): e27540, 2022 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-36060323

RESUMEN

Linear porokeratosis is a cutaneous disorder that typically presents in a unilateral linear formation. While the exact cause of linear porokeratosis is unknown, it is thought to be a downstream effect of disrupted cholesterol synthesis and mevalonate accumulation. Our patient is a 61-year-old male with an unusual case presentation of bilateral linear porokeratosis. He had failed numerous standard therapies. Pathologic examination of a skin biopsy was consistent with bilateral linear porokeratosis. Through a PubMed search, there have been limited reported cases of unilateral linear porokeratosis, but there have not been any reported cases of bilateral linear porokeratosis. There are currently limited therapies with satisfactory outcomes for variants of porokeratosis. While there are some studies on the topical application of cholesterol/lovastatin, limited studies have been performed on the linear form. Our study evaluates the efficacy of compounded topical cholesterol 2%/lovastatin 2% ointment on bilateral linear porokeratosis. The patient demonstrated a significant reduction of porokeratotic lesions on the treated arm compared to the untreated arm. Cholesterol/lovastatin is alternative therapy that can be considered in the treatment of linear porokeratosis and other porokeratosis variants.

2.
Transl Anim Sci ; 6(2): txac060, 2022 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-35702176

RESUMEN

A total of 72 male Boer goat kids (21.7 ± 0.5 kg) were fed for 21 d with 3 kids per pen and 12 pens per treatment. Dietary treatments were: 0% inclusion of dried distillers grains with solubles (DDGS; 0% DDGS) or 33% DDGS inclusion (33% DDGS) and were provided ad libitum. Goats and feeders were weighed weekly to collect body weights (BW) and determine feed disappearance in order to calculate average daily gain (ADG), average daily feed intake (ADFI), and feed efficiency (G:F). At the conclusion of the feeding study, a subset (n = 30; 2-3 goats from each pen representing six6 pens per treatment) of goats were harvested, carcasses evaluated, and loins were fabricated into 2.54 cm chops. Goat chop discoloration was evaluated by trained panelists and measured for L*, a*, and b* values on days 0, 4, 7, and 10 under retail display conditions. Samples were collected and analyzed for lipid oxidation, fatty acid profile, and hydrophilic and lipophilic antioxidant capacity. No evidence of differences was observed for final BW, ADFI, G:F, and carcass characteristics (P > 0.05). However, goats fed the 0% DDGS diet had greater ADG compared with those fed a diet containing 33% DDGS (P = 0.05). Overall, visual evaluation of discoloration, L*, a*, and b* as well as lipid oxidation data confirmed that feeding 33% DDGS to goats had no effect on goat chop discoloration and lipid oxidation (P > 0.10). However, all chops demonstrated a display effect, which they increased in visual discoloration and lipid oxidation and decreased in a* and b* values (P < 0.01) over the entirety of the 10-d period of retail display, regardless of the dietary treatments. As expected, feeding 33% DDGS to goats decreased relative percentage of multiple and total monounsaturated fatty acids, but increased relative percentage of multiple and total polyunsaturated fatty acids (PUFA; P < 0.05). The antioxidant capacity measurements showed no treatment difference in the hydrophilic portion (P > 0.10), but chops from the 33% DDGS treatment had greater lipophilic antioxidant activity compared with the 0% DDGS chops (P < 0.05). In conclusion, including 33% DDGS to the diet may negatively impact goat growth performance, but did not impact any carcass characteristics. Feeding a diet with 33% DDGS resulted in an increase in the PUFA content of goat chops but did not appear to impact meat color or lipid oxidation. The supposed negative consequence from increased PUFA is likely counterbalanced by the increased antioxidant capacity in the lipid component of meat, resulting in no difference in meat shelf-life.

3.
Cureus ; 14(2): e22245, 2022 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-35340465

RESUMEN

This is a review of a patient encounter that underscores the common trend of insufficient inclusivity and lack of diversity regarding skin of color representation in teaching materials including textbooks in the medical education setup. A Black woman who was treated with carbamazepine for trigeminal neuralgia after a dental procedure presented with upper airway breathing difficulties and facial pain and swelling. After doubling her dose of carbamazepine as advised by her primary care physician, her symptoms continued to worsen, and she was treated in the emergency department for a presumed allergic reaction of unknown etiology. Two days later, her symptoms progressively worsened. She self-admitted to the emergency department, where she required cardiopulmonary resuscitation. Eventually, the formal diagnosis of carbamazepine-induced Stevens-Johnson syndrome (SJS) was made based on history, clinical presentation, and skin biopsy. The nature of the disease progression in this case prompted our investigation into the lack of representation of skin of color in current medical training resources regarding SJS. Our assessment demonstrates that there is a significant underrepresentation of SJS in skin of color in medical educational resources. Increased inclusivity of skin disorders in patients of color is crucial in training healthcare professionals to recognize life-threatening cutaneous disorders quickly and accurately in such patients.

4.
Meat Sci ; 184: 108675, 2022 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-34656006

RESUMEN

The objective of this study was to evaluate the properties of skin-on and skin-off goat processing and carcasses for processing efficiency, fabrication time, biochemical factors, and sensory attributes for stewed goat meat. Thirty-one goats were harvested in 2 separate experiments, either skin-on (n = 16) or off (n = 15). The carcasses were fabricated into four primals and each primal was cut into cubes. Processing efficiency, carcasses yield, collagen content, moisture, lipid, ultimate pH, and sensory attributes were measured, and multivariate regression analysis were conducted. The skin-on group had greater overall yield compared to the skin-off group (P < 0.01). Consumers rated goat shoulder meat with the highest overall liking compared to the other primals (P < 0.01), regardless of skin present (P > 0.10). Finally, lipid % was found to be the most essential palatability trait to American Asian consumers.


Asunto(s)
Manipulación de Alimentos/métodos , Carne Roja/análisis , Animales , Asiático , Comportamiento del Consumidor , Culinaria , Calidad de los Alimentos , Cabras , Humanos , Lípidos
6.
Transl Anim Sci ; 4(4): txaa193, 2020 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-33269339

RESUMEN

Lameness is a serious health concern for livestock species. Understanding individual animal response to pain and characterization of lameness are critical when developing appropriate treatments. The objectives of this pilot study was to evaluate two different lameness models and measures for determining response to induced lameness in meat goats. Lameness was induced by intraarticular injection into the left hind lateral claw distal interphalangeal joint with either amphotericin B (Amp-B) or kaolin-carrageenan (K-C). Response to lameness was characterized by behavior scoring, visual lameness scoring (VLS), infrared thermography (IRT) of the affected digit, pressure mat gait analysis (PMT), and plasma cortisol (CORT) analysis. Lame goats had higher VLS compared to controls (P = 0.003). Maximum temperatures measured in hooves from lame vs control goats were significantly higher (P = 0.003). Pressure mat analysis demonstrated, when compared to controls, lame goats had decreased force (P = 0.013), impulse (P = 0.007), contact pressure (P = 0.007), and contact area of the left hind limb (P = 0.009). Mean CORT levels 4 and 6 h after lameness induction were higher in lame goats (P = 0.005, P = 0.01). The two lameness methods reliably induced lameness of varying severity in healthy meat goats.

7.
Transl Anim Sci ; 4(2): txaa021, 2020 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-32705021

RESUMEN

The objective of this study was to determine if oral meloxicam (M; a nonsteroidal anti-inflammatory drug) administered at castration to pre-weaning age calves affected average daily gain (ADG) or behavior. Prior to castration (d -14), Angus bulls were weighed and randomly assigned to be band castrated (BAN; n = 8; age = 90.2 ± 6.5 d; BW = 146.3 ± 11.4 kg; scrotal circumference = 16.0 ± 0.5 cm) or castrated with M (BAN + M; n = 9; age = 102.1 ± 6.2 d; BW = 146.0 ± 7.7 kg; scrotal circumference = 16.1 ± 0.3 cm). Six bulls selected to remain bulls based on pedigree and phenotype were maintained in the same pasture (BULL; age = 104.2 ± 6.1 d; BW = 172.1 ± 8.7 kg; scrotal circumference = 17.5 ± 0.4 cm). On d 0, BAN and BAN + M had a rubber band applied tightly around the scrotum, and BAN + M also received oral M (2 mg/kg BW). On d 1, 14, and 28, animals were weighed and a blood sample was collected to determine circulating concentrations of haptoglobin and fibrinogen. Data loggers were affixed to the legs of calves immediately prior to castration (d 0) to record behaviors [mean lying time (h/d), mean lying bouts (n/d), and steps (n/d)] at 1-min intervals and removed on d 28. Behavior and plasma data were tested for effect of treatment, day, and treatment × day interaction, and ADG data were tested for effect of treatment, period (d -14 to 1, d 1 to 14, and d 14 to 28), and treatment × period interaction using JMP procedures for repeated measures (SAS Inst. Inc., Cary, NC). BULL in period d 0 to 14 had greater ADG than all other treatment period combinations, and BULL had greater ADG than BAN or BAN + M overall (P < 0.05). There was no effect of M treatment on circulating concentrations of fibrinogen or haptoglobin (P > 0.05). On d 7 and 15, BAN took more steps than BAN + M (P < 0.05). BAN + M had more lying bouts than BAN on d 13 and 14 (P < 0.05). Overall, M administration had no effect on ADG post-castration and only had minor impacts on behavior in calves band castrated pre-weaning.

8.
J Anim Sci ; 96(4): 1484-1494, 2018 Apr 14.
Artículo en Inglés | MEDLINE | ID: mdl-29471403

RESUMEN

The hypothesis of this experiment was that increasing the inclusion level of distiller's dried grains with solubles (DDGS) in the diets would decrease semen quality but have no negative effects on growth performance. Following the removal of DDGS from the diet, it was hypothesized that the ram lambs would recover and become reproductively sound, independent of treatment. To test this hypothesis, Suffolk and Hampshire ram lambs (n = 112) were allocated to 4 treatments (n = 4 pens per treatment; 7 rams per pen) in a completely randomized design. Dietary treatments were 60% corn, 25% oats, and 15% commercial lamb pellet (CON), 15% of the ration as DDGS substituted for corn (% DM basis; 15DDGS), 30% of the ration as DDGS substituted for corn (% DM basis; 30DDGS), and 45% of the ration as DDGS substituted for corn (% DM basis; 45DDGS). Lambs were fed for 112 d on their respective treatment, after which they were placed on the CON ration until day 168. Lambs were weighed on consecutive d at the beginning (days 0 and 1) and end (days 167 and 168) of the study. Scrotal circumference was measured on all lambs on days 84, 112, 140, and 168. Semen samples were collected on a subset of 64 rams (4 rams per pen) to evaluate semen quality on days 84, 112, 140, and 168. Blood samples were collected on the same subset of rams every 14 d throughout the study. A quadratic effect on BW on day 112 and overall BW (P = 0.03 and P = 0.005, respectively), ADG on day 112 and overall ADG (P = 0.02 and P = 0.02, respectively), DMI (P = 0.007) on day 112, and a cubic effect (P = 0.05) for overall G:F were observed. Overall and day 168 scrotal circumference had a quadratic (P = 0.05) response. A linear increase in spermatozoa concentration on day 168 was observed (P = 0.03) as DDGS concentration increased in the treatment diets, although rams in this stage of the study were no longer receiving DDGS. Overall, testosterone concentrations exhibited a linear decrease (P = 0.005) as DDGS increased in the diet. The linear increase (P = 0.04) on day 168 in morphologically normal sperm as DDGS increased in the diets indicated that all rams, regardless of treatment, would have passed a reproductive soundness exam. In the current study, no negative effects were observed in lamb feedlot or reproductive traits due to increasing DDGS in the diet, indicating that DDGS may be included at levels up to 45% of growing lamb diets.


Asunto(s)
Alimentación Animal/análisis , Reproducción , Ovinos/fisiología , Animales , Dieta/veterinaria , Grano Comestible , Masculino , Análisis de Semen/veterinaria , Ovinos/crecimiento & desarrollo , Espermatozoides/fisiología , Zea mays
9.
Artículo en Inglés | MEDLINE | ID: mdl-29204560

RESUMEN

OBJECTIVE: To investigate the contributions of envelope and fine-structure to the perception of timbre by cochlear implant (CI) users as compared to normal hearing (NH) listeners. METHODS: This was a prospective cohort comparison study. Normal hearing and cochlear implant patients were tested. Three experiments were performed in sound field using musical notes altered to affect the characteristic pitch of an instrument and the acoustic envelope. Experiment 1 assessed the ability to identify the instrument playing each note, while experiments 2 and 3 assessed the ability to discriminate the different stimuli. RESULTS: Normal hearing subjects performed better than CI subjects in all instrument identification tasks, reaching statistical significance for 4 of 5 stimulus conditions. Within the CI population, acoustic envelope modifications did not significantly affect instrument identification or discrimination. With envelope and pitch cues removed, fine structure discrimination performance was similar between normal hearing and CI users for the majority of conditions, but some specific instrument comparisons were significantly more challenging for CI users. CONCLUSIONS: Cochlear implant users perform significantly worse than normal hearing listeners on tasks of instrument identification. However, cochlear implant listeners can discriminate differences in envelope and some fine structure components of musical instrument sounds as well as normal hearing listeners. The results indicated that certain fine structure cues are important for cochlear implant users to make discrimination judgments, and therefore may affect interpretation toward associating with a specific instrument for identification.

10.
J Neurosci ; 27(19): 5063-7, 2007 May 09.
Artículo en Inglés | MEDLINE | ID: mdl-17494692

RESUMEN

During normal saccadic inspection of natural images, the receptive fields of cortical neurons are bombarded with frequent simultaneous changes in local mean luminance and contrast, yet there have been no systematic studies of how cortical neurons respond to such stimulation. The responses of single neurons in the primary visual cortex of the cat were measured for 200 ms presentations of sine-wave gratings confined to the conventional receptive field. Both local mean luminance and contrast were parametrically and randomly varied over the 1-1.5 log unit ranges that are typical of natural images. We find that responses are strongly modulated by both the local mean luminance and contrast, but in an approximately separable manner: the contrast response function is approximately invariant except for a scale factor that depends on the local mean luminance. The shape of the temporal response profiles were found to be approximately invariant with contrast, but were strongly affected by the local mean luminance. The results suggest that most, if not all, cortical neurons carry substantial local luminance information.


Asunto(s)
Potenciales de Acción/fisiología , Sensibilidad de Contraste/fisiología , Iluminación , Vías Nerviosas/fisiología , Neuronas/fisiología , Corteza Visual/fisiología , Animales , Gatos , Estimulación Luminosa/métodos , Tiempo de Reacción/fisiología , Transmisión Sináptica/fisiología
11.
J Opt Soc Am A Opt Image Sci Vis ; 22(10): 2034-8, 2005 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-16277274

RESUMEN

In the middle of the last century, R. L. De Valois designed and built a unique and effective amplifier based on the newly developed field-effect transistor (FET). This amplifier has many beneficial qualities for amplifying the signals of neurons with minimal disturbance. We have used this amplifier successfully for more than three decades. We describe the circuitry of the De Valois amplifier and provide performance specifications. The FET amplifier is one of De Valois's contributions to visual neurophysiology; we share the design in his honor, with the hope that it might prove useful to others.


Asunto(s)
Potenciales de Acción/fisiología , Amplificadores Electrónicos , Electrofisiología/instrumentación , Neuronas/fisiología , Percepción Visual/fisiología , Animales , Electrofisiología/métodos , Diseño de Equipo , Análisis de Falla de Equipo , Humanos , Transistores Electrónicos
12.
Am J Hum Genet ; 75(4): 587-95, 2004 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-15309690

RESUMEN

Ankylosing spondylitis (AS) is a common and highly heritable inflammatory arthropathy. Although the gene HLA-B27 is almost essential for the inheritance of the condition, it alone is not sufficient to explain the pattern of familial recurrence of the disease. We have previously demonstrated suggestive linkage of AS to chromosome 2q13, a region containing the interleukin 1 (IL-1) family gene cluster, which includes several strong candidates for involvement in the disease. In the current study, we describe strong association and transmission of IL-1 family gene cluster single-nucleotide polymorphisms and haplotypes with AS.


Asunto(s)
Cromosomas Humanos Par 2/genética , Predisposición Genética a la Enfermedad , Interleucina-1/genética , Espondilitis Anquilosante/genética , Análisis Mutacional de ADN , Cartilla de ADN , Electroforesis en Gel de Agar , Frecuencia de los Genes , Genotipo , Antígeno HLA-B27/genética , Haplotipos/genética , Humanos , Patrón de Herencia/genética , Polimorfismo de Nucleótido Simple/genética , Reino Unido
13.
J Neurophysiol ; 91(6): 2607-27, 2004 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-14960559

RESUMEN

We measured the responses of striate cortex neurons as a function of spatial frequency on a fine time scale, over the course of an interval that is comparable to the duration of a single fixation (200 ms). Stationary gratings were flashed on for 200 ms and then off for 300 ms; the responses were analyzed at sequential 1-ms intervals. We found that 1) the preferred spatial frequency shifts through time from low frequencies to high frequencies, 2) the latency of the response increases as a function of spatial frequency, and 3) the poststimulus time histograms (PSTHs) are relatively shape-invariant across spatial frequency. The dynamic shifts in preferred spatial frequency appear to be a simple consequence of the latency shifts and the transient nature of the PSTH. The effects of these dynamic shifts on the coding of spatial frequency information are examined within the context of several different temporal integration strategies, and pattern-detection performance is determined as a function of the interval of integration, following response onset. The findings are considered within the context of related investigations as well as a number of functional issues: motion selectivity in depth, "coarse-to-fine" processing, direction selectivity, latency as a code for stimulus attributes, and behavioral response latency. Finally, we demonstrate that the results are qualitatively consistent with a simple feedforward model, similar to the one originally proposed in 1962 by Hubel and Wiesel, that incorporates measured differences in the response latencies and the receptive field sizes of different lateral geniculate nucleus inputs.


Asunto(s)
Neuronas/fisiología , Tiempo de Reacción/fisiología , Percepción Espacial/fisiología , Corteza Visual/fisiología , Potenciales de Acción/fisiología , Animales , Gatos , Macaca fascicularis , Macaca mulatta , Estimulación Luminosa/métodos , Factores de Tiempo
14.
Science ; 299(5606): 568-72, 2003 Jan 24.
Artículo en Inglés | MEDLINE | ID: mdl-12543977

RESUMEN

Cerebral auditory areas were delineated in the awake, passively listening, rhesus monkey by comparing the rates of glucose utilization in an intact hemisphere and in an acoustically isolated contralateral hemisphere of the same animal. The auditory system defined in this way occupied large portions of cerebral tissue, an extent probably second only to that of the visual system. Cortically, the activated areas included the entire superior temporal gyrus and large portions of the parietal, prefrontal, and limbic lobes. Several auditory areas overlapped with previously identified visual areas, suggesting that the auditory system, like the visual system, contains separate pathways for processing stimulus quality, location, and motion.


Asunto(s)
Corteza Auditiva/fisiología , Vías Auditivas , Percepción Auditiva , Encéfalo/fisiología , Macaca mulatta/anatomía & histología , Macaca mulatta/fisiología , Estimulación Acústica , Animales , Corteza Auditiva/anatomía & histología , Autorradiografía , Encéfalo/anatomía & histología , Mapeo Encefálico , Desoxiglucosa/metabolismo , Lóbulo Frontal/anatomía & histología , Lóbulo Frontal/fisiología , Sistema Límbico/anatomía & histología , Sistema Límbico/fisiología , Lóbulo Parietal/anatomía & histología , Lóbulo Parietal/fisiología , Corteza Prefrontal/anatomía & histología , Corteza Prefrontal/fisiología , Lóbulo Temporal/anatomía & histología , Lóbulo Temporal/fisiología , Vías Visuales , Percepción Visual
15.
J Neurophysiol ; 88(2): 888-913, 2002 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-12163540

RESUMEN

Cortical neurons display two fundamental nonlinear response characteristics: contrast-set gain control (also termed contrast normalization) and response expansion (also termed half-squaring). These nonlinearities could play an important role in forming and maintaining stimulus selectivity during natural viewing, but only if they operate well within the time frame of a single fixation. To analyze the temporal dynamics of these nonlinearities, we measured the responses of individual neurons, recorded from the primary visual cortex of monkeys and cats, as a function of the contrast of transient stationary gratings that were presented for a brief interval (200 ms). We then examined 1) the temporal response profile (i.e., the post stimulus time histogram) as a function of contrast and 2) the contrast response function throughout the course of the temporal response. We found that the shape and complexity of the temporal response profile varies considerably from cell to cell. However, within a given cell, the shape remains relatively invariant as a function of contrast and appears to be simply scaled and shifted. Stated quantitatively, approximately 95% of the variation in the temporal responses as a function of contrast could be accounted for by scaling and shifting the average poststimulus time histogram. Equivalently, we found that the overall shape of the contrast response function (measured every 2 ms) remains relatively invariant from the onset through the entire temporal response. Further, the contrast-set gain control and the response expansion are fully expressed within the first 10 ms after the onset of the response. Stated quantitatively, the same, scaled Naka-Rushton equation (with the same half-saturation contrast and expansive response exponent) provides a good fit to the contrast response function from the first 10 ms through the last 10 ms of the temporal response. Based upon these measurements, it appears as though the two nonlinear properties, contrast-set gain control and response expansion, are present in full strength, virtually instantaneously, at the onset of the response. This observation suggests that response expansion and contrast-set gain control can influence the performance of visual cortex neurons very early in a single fixation, based on the contrast within that fixation. In the DISCUSSION, we consider the implications of the results within the context of 1) slower types of contrast gain control, 2) discrimination performance, 3) drifting steady-state measurements, 4) functional models that incorporate response expansion and contrast normalization, and 5) structural models of the biochemical and biophysical neural mechanisms.


Asunto(s)
Sensibilidad de Contraste/fisiología , Corteza Visual/fisiología , Percepción Visual/fisiología , Animales , Gatos , Electrofisiología , Macaca , Modelos Teóricos , Neuronas/fisiología , Dinámicas no Lineales , Factores de Tiempo , Corteza Visual/citología
16.
Arthritis Rheum ; 46(6): 1629-33, 2002 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-12115195

RESUMEN

OBJECTIVE: To investigate the role of the gene NOD2 in susceptibility to, and clinical manifestations of, ankylosing spondylitis (AS). METHODS: A case-control study of NOD2 polymorphisms known to be associated with Crohn's disease (CD) (Pro(268)Ser, Arg(702)Trp, Gly(908)Arg, and Leu(1007)fsinsC) was performed in 229 cases of primary AS with no diagnosed inflammatory bowel disease (IBD), 197 cases of AS associated with IBD (referred to as colitic spondylarthritis; comprising 78 with CD and 119 with ulcerative colitis [UC]), and 229 ethnically matched, healthy controls. Associations between NOD2 polymorphisms and several clinical features of AS, including disease severity assessed by questionnaire and age at spondylarthritis onset, were also investigated. Exclusion linkage mapping of chromosome 16 was performed in a separate group of 185 multicase families with AS. RESULTS: An association was identified between Gly(908)Arg and UC spondylarthritis (P = 0.016, odds ratio [OR] 4.6, 95% confidence interval [95% CI] 1.3-16), and a nonsignificant trend with a similar magnitude was observed in association with CD spondylarthritis (P = 0.08, OR 3.9, 95% CI 0.8-18). The Pro(268)Ser variant was inversely associated with UC spondylarthritis (P = 0.003, OR 0.55, 95% CI 0.37-0.82), but not with CD spondylarthritis. No association was demonstrated between NOD2 variants and primary AS, or between other variants of NOD2 and either UC or CD spondylarthritis. Carriage of the Pro(268)Ser polymorphism was associated with greater disease activity as measured by the Bath Ankylosing Spondylitis Disease Activity Index (P = 0.002). Although patients with CD had a younger age at spondylarthritis onset than did those with UC (22.4 years versus 26.4 years; P = 0.01), no association was noted between the NOD2 variants linked with CD and age at spondylarthritis onset. In primary AS, the presence of a gene with a magnitude of association >2.0 was excluded (exclusion logarithm of odds score less than -2.0), and no association was observed with the microsatellite D16S3136. CONCLUSION: NOD2 variants do not significantly affect the risk of developing primary AS, but may influence susceptibility to, and clinical manifestations of, colitic spondylarthritis.


Asunto(s)
Proteínas Portadoras/genética , Péptidos y Proteínas de Señalización Intracelular , Polimorfismo de Nucleótido Simple , Espondiloartritis/genética , Adulto , Edad de Inicio , Estudios de Casos y Controles , Estudios de Cohortes , Predisposición Genética a la Enfermedad , Genotipo , Humanos , Escala de Lod , Proteína Adaptadora de Señalización NOD2 , Proteínas , Factores de Riesgo , Espondiloartritis/epidemiología
17.
Curr Opin Rheumatol ; 14(4): 354-60, 2002 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-12118167

RESUMEN

While twin studies have previously demonstrated high heritability of susceptibility to ankylosing spondylitis (AS), it is only recently that the involvement of genetic factors in determining the severity of the disease has been demonstrated. The genes involved in determining the rate of ankylosis in AS are likely to be different from those involved in the underlying immunologic events, and represent important potential targets for treatment of AS. This article will describe the progress that has been made in the genetic epidemiology of AS, and in identifying the genes involved.


Asunto(s)
Expresión Génica , Predisposición Genética a la Enfermedad , Espondilitis Anquilosante/genética , Mapeo Cromosómico , Enfermedades en Gemelos/genética , Humanos , Epidemiología Molecular , Espondilitis Anquilosante/epidemiología , Espondilitis Anquilosante/fisiopatología
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