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1.
Chemphyschem ; 23(5): e202100860, 2022 03 04.
Artículo en Inglés | MEDLINE | ID: mdl-35032154

RESUMEN

Before the viability of a cell formulation can be assessed for implementation in commercial sodium ion batteries, processes applied in cell production should be validated and optimized. This review summarizes the steps performed in constructing sodium ion (Na-ion) cells at research scale, highlighting parameters and techniques that are likely to impact measured cycling performance. Consistent process-structure-performance links have been established for typical lithium-ion (Li-ion) cells, which can guide hypotheses to test in Na-ion cells. Liquid electrolyte viscosity, sequence of mixing electrode slurries, rate of drying electrodes and cycling characteristics of formation were found critical to the reported capacity of laboratory cells. Based on the observed importance of processing to battery performance outcomes, the current focus on novel materials in Na-ion research should be balanced with deeper investigation into mechanistic changes of cell components during and after production, to better inform future designs of these promising batteries.


Asunto(s)
Suministros de Energía Eléctrica , Sodio , Electrodos , Iones , Litio
2.
Gastrointest. endosc ; 93(2): 309-322, Feb. 1, 2021. ilus
Artículo en Inglés | BIGG - guías GRADE | ID: biblio-1146652

RESUMEN

This American Society for Gastrointestinal Endoscopy guideline provides evidence-based recommendations for the endoscopic management of gastric outlet obstruction (GOO). We applied the Grading of Recommendations, Assessment, Development and Evaluation methodology to address key clinical questions. These include the comparison of (1) surgical gastrojejunostomy to the placement of self-expandable metallic stents (SEMS) for malignant GOO, (2) covered versus uncovered SEMS for malignant GOO, and (3) endoscopic and surgical interventions for the management of benign GOO. Recommendations provided in this document were founded on the certainty of the evidence, balance of benefits and harms, considerations of patient and caregiver preferences, resource utilization, and cost-effectiveness.


Asunto(s)
Humanos , Stents , Endoscopía Gastrointestinal/métodos , Obstrucción de la Salida Gástrica/cirugía , Obstrucción de la Salida Gástrica/etiología , Resultado del Tratamiento , Medicina Basada en la Evidencia
3.
AIDS Care ; 32(10): 1229-1237, 2020 10.
Artículo en Inglés | MEDLINE | ID: mdl-32539456

RESUMEN

Mental well-being can contribute to cigarette smoking and negatively impact disease progression among people living with HIV (PLWH). This study examined potential associations between cocaine use (COC), depression, and HIV status in predicting cigarette smoking; hypothesizing that depression would be highest in cocaine users and predict cigarette smoking. An exploratory analysis including stress was also examined as a potential predictor of cigarette use. More than half of the sample (65%) endorsed smoking at some point in the past, and 52% endorsed being current smokers at the time of the study. Smokers were most likely to be cocaine users (87.1%), cocaine using PLWH (74.3%), or PLWH (36.6%). Neither HIV status (χ2(1) = 1.5, p = .221), perceived stress (χ2(1) = 0.75 p = .386), nor depressive symptomatology (χ2(1) = 1.2, p = .274) were related to smoking. Non-cocaine users were approximately 95.4% less likely to smoke than cocaine users, controlling for all other variables. Overall, cocaine use was the greatest predictor of cigarette smoking and quantity of cigarettes smoked. Perceived stress and depression were not associated with cigarette smoking in the sample. Future interventions targeting cigarette use should include a cocaine-related component to encourage smoking cessation among this high-risk group.


Asunto(s)
Fumar Cigarrillos , Cocaína , Depresión/epidemiología , Infecciones por VIH , Femenino , Infecciones por VIH/epidemiología , Humanos , Masculino , Humo , Estrés Psicológico , Trastornos Relacionados con Sustancias
4.
Biomed Microdevices ; 21(3): 70, 2019 07 04.
Artículo en Inglés | MEDLINE | ID: mdl-31273464

RESUMEN

Point-of-care medical devices offer the potential for rapid biomarker detection and reporting of medical conditions, thereby bypassing the requirements for offline clinical laboratory facilities in many cases. Label-free electrochemical techniques are suitable for use in handheld diagnostic devices due the inherent electronic detection modality and low requirement for processing reagents. While electrochemical impedance sensing is widely used in tissue analysis such as body composition measurement, its use in point-of-care patient testing is yet to be widely adopted. Here we have considered a number of issues currently limiting the translation of electrochemical impedance sensing into clinical biosensor devices. Specifically, we have addressed the current requirement for these sensors to be connected to an external processor by applying a minimum number of frequencies required for optimized biomarker detection, and subsequently delivering analytics within the measurement device. The POISED-5 device was evaluated using a sensor for the ovarian cancer biomarker cancer antigen 125 (CA125), demonstrating performance comparable to standard laboratory equipment, with direct interpretation of response signal amplitude substituting traditional impedance component calculation and model fitting.


Asunto(s)
Biomarcadores/análisis , Espectroscopía Dieléctrica/instrumentación , Técnicas Electroquímicas/métodos , Técnicas Biosensibles/instrumentación , Antígeno Ca-125/análisis , Diseño de Equipo , Sistemas de Atención de Punto
5.
Int J Orthop Trauma Nurs ; 34: 43-47, 2019 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-31272918

RESUMEN

OBJECTIVE: The goal of total knee replacement is to improve function and reduce knee pain. The aim of this retrospective chart review was to assess the change in pain intensity from prior to TKR to after TKR at time of discharge from hospital. METHOD: Consecutive charts of 595 patients who were discharged from the orthopaedic inpatient setting between January 2014 and July 2014 were reviewed. RESULTS: The mean pre-operative pain intensity score was 7/10 (n = 473), and the mean pain intensity score prior to discharge from hospital was 3/10 (n = 548). Four hundred and fifty-six patients had both a pre-operative and pre-discharge pain intensity score documented; for those patients there was a significant change in pain intensity scores from prior to surgery to prior to discharge (p < 0.001). CONCLUSION: Pain after TKR can be a limiting factor in rehabilitation activities. This retrospective chart review examined the pain intensity scores before and after primary TKR for patients in our facility. We found a significant difference in the pain intensity from before surgery to after surgery. However, further research needs to be conducted to examine the intensity and quality of pain as well as which analgesics patients are consuming after discharge from hospital at 6 weeks and 3 months.


Asunto(s)
Artroplastia de Reemplazo de Rodilla/efectos adversos , Artroplastia de Reemplazo de Rodilla/rehabilitación , Dimensión del Dolor/métodos , Dolor Postoperatorio/diagnóstico , Dolor Postoperatorio/etiología , Anciano , Femenino , Estudios de Seguimiento , Humanos , Masculino , Persona de Mediana Edad , Osteoartritis de la Rodilla/cirugía , Alta del Paciente , Recuperación de la Función , Estudios Retrospectivos
6.
Biosens Bioelectron ; 141: 111386, 2019 Sep 15.
Artículo en Inglés | MEDLINE | ID: mdl-31220725

RESUMEN

DNA methylation and histone deacetylation are key epigenetic processes involved in normal cellular function and tumorigenesis. Therapeutic strategies based on DNA methyltransferase (DNMT) and histone deacetylase (HDAC) inhibitors are currently in use and under development for the treatment of cancers. Genome-wide DNA methylation profiling has been proposed for use in disease diagnosis, and histone modification profiling for disease stratification will follow suit. However, whether epigenome sequencing technologies will be feasible for rapid clinic diagnosis and patient treatment monitoring remains to be seen, and alternative detection technologies will almost certainly be needed. Here we used electrochemical impedance spectroscopy (EIS) employing a graphene-based screen-printed electrode system to directly measure global DNA methylation and histone H3 acetylation to compare non-cancer and breast cancer cell lines. We demonstrated that whilst global methylation was not useful as a differential marker in the cellular systems tested, histone H3 acetylation was effective at higher chromatin levels. Using breast and endometrial cancer cell models, EIS was then used to monitor cellular responses to the DNMT and HDAC inhibitors 5-Aza-2'-deoxycytidine and suberoylanilide hydroxamic acid in vitro, and proved very effective at detecting global cellular responses to either treatment, indicating that this approach could be useful in following treatment response to epigenetic drugs. Moreover, this work reports the first combined analysis of two epigenetic markers using a unified graphene-based biosensor platform, demonstrating the potential for multiplex analysis of both methylation and acetylation on the same sample.


Asunto(s)
Antineoplásicos/farmacología , Neoplasias de la Mama/tratamiento farmacológico , Metilasas de Modificación del ADN/antagonistas & inhibidores , Neoplasias Endometriales/tratamiento farmacológico , Epigénesis Genética/efectos de los fármacos , Inhibidores de Histona Desacetilasas/farmacología , Técnicas Biosensibles/métodos , Neoplasias de la Mama/genética , Línea Celular Tumoral , Metilación de ADN/efectos de los fármacos , Metilasas de Modificación del ADN/metabolismo , Espectroscopía Dieléctrica/métodos , Ensayos de Selección de Medicamentos Antitumorales/métodos , Neoplasias Endometriales/genética , Femenino , Humanos
7.
Dis Esophagus ; 32(9)2019 Nov 13.
Artículo en Inglés | MEDLINE | ID: mdl-31037293

RESUMEN

Volumetric laser endomicroscopy (VLE) uses optical coherence tomography (OCT) for real-time, microscopic cross-sectional imaging. A US-based multi-center registry was constructed to prospectively collect data on patients undergoing upper endoscopy during which a VLE scan was performed. The objective of this registry was to determine usage patterns of VLE in clinical practice and to estimate quantitative and qualitative performance metrics as they are applied to Barrett's esophagus (BE) management. All procedures utilized the NvisionVLE Imaging System (NinePoint Medical, Bedford, MA) which was used by investigators to identify the tissue types present, along with focal areas of concern. Following the VLE procedure, investigators were asked to answer six key questions regarding how VLE impacted each case. Statistical analyses including neoplasia diagnostic yield improvement using VLE was performed. One thousand patients were enrolled across 18 US trial sites from August 2014 through April 2016. In patients with previously diagnosed or suspected BE (894/1000), investigators used VLE and identified areas of concern not seen on white light endoscopy (WLE) in 59% of the procedures. VLE imaging also guided tissue acquisition and treatment in 71% and 54% of procedures, respectively. VLE as an adjunct modality improved the neoplasia diagnostic yield by 55% beyond the standard of care practice. In patients with no prior history of therapy, and without visual findings from other technologies, VLE-guided tissue acquisition increased neoplasia detection over random biopsies by 700%. Registry investigators reported that VLE improved the BE management process when used as an adjunct tissue acquisition and treatment guidance tool. The ability of VLE to image large segments of the esophagus with microscopic cross-sectional detail may provide additional benefits including higher yield biopsies and more efficient tissue acquisition. Clinicaltrials.gov NCT02215291.


Asunto(s)
Esófago de Barrett/diagnóstico por imagen , Pautas de la Práctica en Medicina/estadística & datos numéricos , Tomografía de Coherencia Óptica/métodos , Adulto , Anciano , Anciano de 80 o más Años , Esófago de Barrett/patología , Esófago de Barrett/terapia , Biopsia , Toma de Decisiones Clínicas , Sistemas de Computación , Femenino , Humanos , Masculino , Persona de Mediana Edad , Estudios Prospectivos , Sistema de Registros , Tomografía de Coherencia Óptica/estadística & datos numéricos , Estados Unidos
8.
J Control Release ; 249: 123-130, 2017 03 10.
Artículo en Inglés | MEDLINE | ID: mdl-28126528

RESUMEN

BACKGROUND: Chromophore-containing molecules feature extensively in surgical practice, with synthetic dyes gaining popularity over endogenous optical adjuncts. New applications for chromophores in diagnostics and operative treatment exploit unique chemical structures suited for illuminating target tissues beyond the visual spectrum, ranging from ultraviolet (UV) to near-infrared (NIR). This review outlines the rationale for surgical chromophore application, the weaknesses and risks in each class of these compounds, and areas of foreseeable potential for employment of specialized contrast agents. METHOD: An English-language literature search applied the following Boolean Search String: "dye OR Lake OR Stain OR chromophore" AND "tox$ OR terato* OR carcino$ OR Allerg$ OR surg$ OR clinic" using EMBASE, PUBMED, PUBMED central and OVIDSp, with back-referencing through Web of Knowledge™. RESULTS: Based on the primary literature, this study proposes a surgically relevant classification system of chromophores in current use, which facilitates risk/benefit consideration for the surgeon who employs them, and which facilitates clinically oriented development. CONCLUSIONS: The next stage of development for optically active surgical adjuncts must address practical constraints whilst minimizing risks of adverse effects. Exploiting the technology's full potential also requires improvements in the usefulness of imagery equipment.


Asunto(s)
Colorantes/química , Medios de Contraste/química , Procedimientos Quirúrgicos Operativos/métodos , Anafilaxia/inducido químicamente , Animales , Colorantes/administración & dosificación , Colorantes/efectos adversos , Colorantes/farmacocinética , Medios de Contraste/administración & dosificación , Medios de Contraste/efectos adversos , Medios de Contraste/farmacocinética , Hipersensibilidad a las Drogas/etiología , Humanos , Rayos Infrarrojos , Luz , Neoplasias/inducido químicamente , Procedimientos Quirúrgicos Operativos/efectos adversos , Rayos Ultravioleta
9.
Colorectal Dis ; 17(8): 682-8, 2015 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-25619115

RESUMEN

AIM: Size and the sessile morphology of an adenoma may explain why colonoscopy is less effective in preventing proximal colonic cancer than distal cancers. We wanted to determine if advanced polypoid neoplasms (APNs, i.e. adenoma with high-grade dysplasia or early adenocarcinoma) are more likely to be sessile and/or smaller in the proximal colon. METHOD: We searched our institution's pathology database from 2004 to 2012 and identified patients with APNs. Polyps were categorized by size, morphology and location in the colon. Average polyp size and morphology were determined for each location. RESULTS: During the study period, 564 patients with APNs were identified. Of these, adenocarcinoma was noted in 21.6% and high-grade dysplasia in 78.4%. The average patient age was 64.4 years and 54.9% were men. The proportion of APNs that were ≤ 5 mm was 1.7%, ≤ 10 mm 19.3% and ≤ 15 mm 39%. APNs in the proximal colon were larger than those in the distal colon, but the difference was not statistically significant (27 vs 24 mm; P = 0.06). Eighty-three per cent of APNs in the proximal colon were sessile vs 57% in the distal colon (P = 0.001). APNs in the proximal colon were almost four times more likely to be sessile than in the distal colon (OR = 3.7). A similar association was noted for polyps ≤ 20 mm or polyps with high-grade dysplasia. CONCLUSION: APNs in the proximal colon were almost four-times more likely to be sessile than those in the distal colon. No difference in the size of polyps was noted.


Asunto(s)
Adenocarcinoma/patología , Adenoma/patología , Colon , Neoplasias del Colon/patología , Pólipos del Colon/patología , Anciano , Colonoscopía , Femenino , Humanos , Masculino , Persona de Mediana Edad , Carga Tumoral
11.
Artículo en Inglés | MEDLINE | ID: mdl-22232171

RESUMEN

The outer membrane cytochrome OmcA functions as a terminal metal reductase in the dissimilatory metal-reducing bacterium Shewanella oneidensis MR-1. The ten-heme centers shuttle electrons from the transmembrane donor complex to extracellular electron acceptors. Here, the crystallization and preliminary crystallographic analysis of OmcA are reported. Crystals of OmcA were grown by the sitting-drop vapor-diffusion method using PEG 20,000 as a precipitant. The OmcA crystals belonged to space group P2(1), with unit-cell parameters a = 93.0, b = 246.0, c = 136.6 Å, α = 90, ß = 97.8, γ = 90°. X-ray diffraction data were collected to a maximum resolution of 3.25 Å.


Asunto(s)
Proteínas de la Membrana Bacteriana Externa/química , Grupo Citocromo c/química , Shewanella/enzimología , Cristalización , Cristalografía por Rayos X
12.
Indian J Dermatol ; 56(6): 744-6, 2011 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-22345786

RESUMEN

We report a case of 15-year-old girl who was diagnosed as a case of pituitary macroadenoma on computed tomography and magnetic resonance imaging (MRI) scans for her complains of diminished vision in the left eye and headache. On investigation she was found to have optic atrophy of left eye and primary hypothyroidism. She was started on thyroxin therapy in October 2008 and planned for transcranial excision of the tumor. Just before the date for planned surgery she developed mildly itchy vesico-bullous rash and the surgery was postponed. On histopathology and immunoflourescence studies it was confirmed to be the rash of dermatitis herpetiformis (DH) and treatment was started with corticosteroids in the last week of December 2008 and dapsone was added from mid January 2009. The lesions responded dramatically and within 6 weeks of starting treatment, she had become asymptomatic except for persisting diminution of vision. Repeat MRI scans in mid-February 2009 revealed total regression of pituitary mass. The case is being reported for interesting association of primary hypothyroidism, pituitary mass mimicking macroadenoma and DH; its successful outcome with medical management in the form of total regression of pituitary mass, thereby avoiding an unnecessary surgery.

14.
Indian J Pharmacol ; 41(4): 203-4, 2009 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-20523876

RESUMEN

A 58-year-old man presented with complaints of blackish discoloration of forearms and face of five months duration. The lesions occurred episodically after taking anti-cancer medications, each episode lasting for two weeks. Histopathology confirmed a lichenoid eruption. Photolichenoid eruption to docetaxel is a dermatological adverse effect not reported in literature earlier.

15.
Endoscopy ; 40(2): 115-9, 2008 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-18253906

RESUMEN

BACKGROUND AND STUDY AIMS: Postpolypectomy bleeding is a rare but serious adverse event. The aim of this study was to identify factors associated with the risk of severe delayed postpolypectomy bleeding. PATIENTS AND METHODS: This was a case-control study, comparing cases who developed hematochezia and required medical evaluation 6 hours to 14 days after colonoscopic polypectomy, and control patients who underwent polypectomy without delayed bleeding, and who were selected in approximately a 3 : 1 ratio. The following risk factors were specified a priori: resuming anticoagulation (within 1 week following polypectomy), aspirin use, hypertension, and polyp diameter. RESULTS: Of the 4592 patients who underwent colonoscopy with polypectomy, 41 patients (0.9 %) developed delayed postpolypectomy bleeding (cases), and 132 patients were selected as controls. The mean age was 64.3 years for cases and 65.4 years for controls. Cases presented on average 6 days after polypectomy (range 1 - 14 days), and 48 % required blood transfusion (average 4.2 units, range 0 - 17). Two patients required surgery. Anticoagulation was resumed following polypectomy in 34 % of cases compared with 9 % of controls (OR 5.2; 95 % CI 2.2 - 12.5; P < 0.001). For every 1 mm increase in polyp diameter, the risk of hemorrhage increased by 9 % (OR 1.09; 95 % CI 1.0 - 1.2; P = 0.008). Hypertension (OR 1.1) and aspirin use (OR 1.1) did not increase the risk of postpolypectomy bleeding. In exploratory analysis, diabetes (OR 2.5) and coronary artery disease (OR 3.0) were associated with postpolypectomy hemorrhage, but the association was no longer statistically significant once adjusted for the use of anticoagulation. CONCLUSIONS: Resuming anticoagulation following polypectomy and polyp diameter were strongly associated with increased risk of severe delayed postpolypectomy bleeding.


Asunto(s)
Pólipos del Colon/cirugía , Colonoscopía/efectos adversos , Hemostasis Endoscópica/métodos , Hemorragia Posoperatoria/diagnóstico , Anciano , Anciano de 80 o más Años , Biopsia con Aguja , Estudios de Casos y Controles , Pólipos del Colon/patología , Colonoscopía/métodos , Femenino , Estudios de Seguimiento , Humanos , Inmunohistoquímica , Incidencia , Masculino , Persona de Mediana Edad , Oportunidad Relativa , Hemorragia Posoperatoria/epidemiología , Hemorragia Posoperatoria/terapia , Probabilidad , Valores de Referencia , Factores de Riesgo , Índice de Severidad de la Enfermedad , Factores de Tiempo
16.
Artículo en Inglés | MEDLINE | ID: mdl-18032862

RESUMEN

A 29-year-old lady with a bad obstetric history and portal vein thrombosis, presented to the Skin OPD for facial lesions. On examination, angiofibromas on face, shagreen patch and periungual fibromas were observed. She also had dental pits and a retinal hamartoma. Investigations revealed hamartomas in the brain and kidney. Hematological work-up showed protein C and S deficiency with Factor V Leiden positivity. Except for the cutaneous symptoms, the patient did not have any clinical manifestations in other organs affected by tuberous sclerosis. A similar association of tuberous sclerosis with protein C deficiency has been reported in only one case in literature.


Asunto(s)
Vena Porta , Deficiencia de Proteína C/complicaciones , Deficiencia de Proteína S/complicaciones , Trombosis/complicaciones , Esclerosis Tuberosa/complicaciones , Adulto , Angiofibroma/complicaciones , Encefalopatías/complicaciones , Fisuras Dentales/complicaciones , Neoplasias Faciales/complicaciones , Femenino , Fibroma/complicaciones , Hamartoma/complicaciones , Humanos , Enfermedades Renales/complicaciones , Enfermedades de la Retina/complicaciones
17.
Artículo en Inglés | MEDLINE | ID: mdl-17050937

RESUMEN

A 23-year-old young woman presented with recurrent episodes of painful bruising along with linear erosions on the accessible areas of the body of nine years duration with a pseudo-ainhum of her left nipple for the past three months. Her case history included repeated visits to various physicians at different centers and an extensive investigative profile. A diagnosis of autoerythrocyte sensitization was made on the basis of the clinical history, dermatological examination complemented by a positive autoerythrocyte sensitization test, psychiatric evaluation and absence of any organic cause for her ailment. She was placed on psychiatric management and has remained symptom-free after six months follow-up. The case is reported for its rarity, as well as for the association of autoerythrocyte sensitization syndrome with frank dermatitis artefacta and pseudo-ainhum, which to the best of our knowledge has not yet been reported in the literature.


Asunto(s)
Enfermedades Autoinmunes/diagnóstico , Dermatitis/diagnóstico , Dermatitis/psicología , Eritrocitos/inmunología , Púrpura/diagnóstico , Púrpura/psicología , Adulto , Enfermedades Autoinmunes/complicaciones , Enfermedades Autoinmunes/psicología , Dermatitis/complicaciones , Femenino , Humanos , Pezones/patología , Trastornos Psicofisiológicos/complicaciones , Trastornos Psicofisiológicos/diagnóstico , Trastornos Psicofisiológicos/psicología , Púrpura/complicaciones , Síndrome
18.
Artículo en Inglés | MEDLINE | ID: mdl-16766841

RESUMEN

Posterior uveitis is not a documented feature of Reiter's disease. We describe here a patient of Reiter's disease, who after a bout of dysentery in January 2002 developed macular edema of the right eye with visual acuity of 6/36. In December 2002, she was found to have phlyctenular conjunctivitis. In June 2004, when she reported with scaly plaques over both palms, repeat ophthalmological examination revealed macular degeneration of the right eye. The simultaneous occurrence of Reiter's disease and macular degeneration in this patient may be fortuitous but the immunological basis of both diseases suggests a possible association.


Asunto(s)
Artritis Reactiva/complicaciones , Degeneración Macular/etiología , Antiinflamatorios/uso terapéutico , Artritis/tratamiento farmacológico , Artritis/etiología , Fascitis Plantar/diagnóstico , Fascitis Plantar/tratamiento farmacológico , Femenino , Mano/patología , Humanos , Degeneración Macular/tratamiento farmacológico , Persona de Mediana Edad , Espondilitis/terapia
19.
Pediatr Dev Pathol ; 8(5): 557-67, 2005.
Artículo en Inglés | MEDLINE | ID: mdl-16222476

RESUMEN

This study identified cytogenetic abnormalities in a population screened for deletion 22q11.2 syndrome (D22S) by fluorescence in situ hybridization (FISH) and G-banding and correlated these abnormalities to referring specialty and submitted indications. Requests for the D22S FISH assay were retrospectively reviewed over a 29-month period in our institution. Positive test results for D22S FISH and other abnormalities found by other FISH assays and G-banding were correlated to submitting specialist and indication. Thirteen medical services ordered D22S FISH testing on 297 patients over 29 months. The detection rate for all cytogenetic aberrations was 9.4% (28 of 297) including 5.4% (16 of 297) for D22S detection by FISH and 2.7% (8 of 297) for detection of additional cytogenetic anomalies by G-banding cytogenetics. Sixty-six of 297 patients negative by D22S FISH and G-banding were screened using other FISH assays and 3 of 47 (6.4%) patients screened using subtelomeric probes were positive for deletion and 1 of 3 (33%) patients screened for Prader-Willi syndrome was positive for deletion. Pediatric geneticists requested 53.9% (160 of 297) of the tests, yielding 60.7% (17 of 28) of positive test results. Tetralogy of Fallot and developmental delay were the indications associated with the most positive test results. In our institution, pediatric geneticists identify the largest spectrum of indications with D22S and appear most aware of the association of developmental delay with D22S. Performing conventional cytogenetics and other FISH assays, in addition to FISH for D22S, is important because there is considerable overlap between D22S and the phenotype of several other syndromes.


Asunto(s)
Anomalías Múltiples/genética , Bandeo Cromosómico , Deleción Cromosómica , Cromosomas Humanos Par 22/genética , Técnicas de Laboratorio Clínico/estadística & datos numéricos , Pruebas Genéticas/métodos , Hibridación Fluorescente in Situ/métodos , Anomalías Múltiples/diagnóstico , Adolescente , Adulto , Niño , Preescolar , Síndrome de DiGeorge/diagnóstico , Síndrome de DiGeorge/genética , Cardiopatías Congénitas/diagnóstico , Cardiopatías Congénitas/genética , Humanos , Lactante , Recién Nacido , Reproducibilidad de los Resultados , Estudios Retrospectivos
20.
Artículo en Inglés | MEDLINE | ID: mdl-17642554

RESUMEN

A 39-year-old soldier presented with anhidrosis affecting both upper extremities below the shoulders, the right side of the trunk below the third rib in front and the third vertebra on the back, and the left lower extremity below the inguinal ligament since 1992. Ten years later in 2002, he was also found to have bilateral absence of Achilles reflex and decreased right knee jerk. In addition, the patient was found to have congenital spinal abnormalities in the form of block of vertebrae C3-C4; decreased disc space C4-C5; and break in pars interarticularis L5-S1 with decreased disc space. A total of seven cases of Ross syndrome, Holmes-Adie syndrome (tonic pupil with lost tendon jerks) with segmental anhidrosis, have been described in the literature. Our case, however, did not have any pupillary abnormality. A case of progressive isolated segmental anhidrosis has also been described. The association of congenital spinal abnormality, which may be pathognomonic in the causation of this progressive sudomotor degeneration, is quite interesting in our case. The distribution of anhidrosis on the right side is just below the level of sweating loss sometimes described in lesions of superior sympathetic cervical ganglion in Horner's syndrome.

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