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1.
Soft Matter ; 2024 Aug 27.
Artículo en Inglés | MEDLINE | ID: mdl-39189313

RESUMEN

We study poly-crystalline spherical drops of an aqueous suspension of highly charged colloidal spheres exposed to a colloid-free aqueous environment. Crystal contours were obtained from standard optical imaging. The crystal spheres first expand to nearly four times their initial volume before slowly shrinking due to dilution-induced melting. Exploiting coherent multiple-scattering by (110) Bragg reflecting crystals, time-dependent density profiles were recorded within the drop interior. These show a continuously flattening radial density gradient and a decreasing central density. Expansion curves and density profiles are qualitatively consistent with theoretical expectations based on dynamical density functional theory for the expansion of a spherical crystallite made of charged Brownian spheres. We anticipate that our study opens novel experimental access to density determination in turbid crystals.

2.
J Med Virol ; 94(10): 4910-4917, 2022 10.
Artículo en Inglés | MEDLINE | ID: mdl-35726154

RESUMEN

INTRODUCTION: The prognostic nutritional index (PNI) is calculated using total serum lymphocyte counts and albumin levels. We aimed to analyze the role of PNI in predicting intensive care unit (ICU) referral and mortality in patients with Crimean Congo hemorrhagic fever (CCHF). MATERIALS AND METHODS: Our target population was adult (age >18) patients who presented between March 2015 and October 2021 within 5 days of symptom emergence and were diagnosed with CCHF. The predictive value of PNI was analyzed by the receiver operating curve analysis. The patients were categorized based on the severity grading scores (SGS) as mild, moderate, and severe. The relationship between PNI and ICU referral and mortality was analyzed by logistic regression analysis. RESULTS: Overall, 115 patients with the diagnosis of CCHF were included. 13.9% (n = 16) of the patients were referred to ICU while 11.3% (n = 13) died. A comparison of the patients with different SGS grades revealed that they were significantly different regarding PNI (p < 0.001). There was a significant negative correlation between PNI and SGS (r = -0.662; p < 0.001). PNI had a PV regarding ICU referral and mortality ([area under the curve [AUC] = 0.723, 95% confidence interval [CI]: 0.609-0.836, p = 0.004 [AUC = 0.738, 95% CI: 0.613-0.863, p = 0.005]). The PNI threshold was 36.1 for ICU referral and mortality. The rates of female patients, hospitalization periods longer than 1 week, platelet apheresis replacement, diabetes mellitus, bleeding history, ICU admission, and mortality were significantly higher in patients with a PNI of lower than 36.1 (p < 0.05). CONCLUSION: PNI can predict ICU referral and mortality in patients admitted due to CCHF.


Asunto(s)
Virus de la Fiebre Hemorrágica de Crimea-Congo , Fiebre Hemorrágica de Crimea , Adulto , Femenino , Fiebre Hemorrágica de Crimea/epidemiología , Humanos , Evaluación Nutricional , Pronóstico , Índice de Severidad de la Enfermedad
3.
Pol J Vet Sci ; 24(3): 323-333, 2021 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-34730310

RESUMEN

Diarrhea caused by parasitic agents is common in neonatal calves and leads to significant economic losses in cattle farms worldwide. Cryptosporidium spp. is one of the most frequently detected parasitic agents causing diarrhea in neonatal calves. The aim of this study was to investigate the presence of Cryptosporidium spp. on a dairy farm which a has major diarrhea problem. Samples were collected from calves, cows, drinking bowls, and two different artesian water sources, as well as from the environment. All fecal samples were investigated using Kinyoun acid-fast stained slides and real-time PCR targeting the Cryptosporidium spp. COWP gene. In addition, species identification was performed by nested PCR targeting the Cryptosporidium spp. COWP gene and sequencing. Cryptosporidium spp. was detected in 11 calves (30.55%; 11/36) by real-time PCR and the cows were negative. Among real-time PCR positive samples, only five were also found positive by microscopy. Moreover, Cryptosporidium spp. was found in one of the two artesian water sources and five environmental samples by real-time PCR. Among these positive samples, eight were sequenced. According to the RFLP pattern, BLAST and, phylogenetic analyses, all sequenced samples were Cryptosporidium parvum. These findings show the importance of C. parvum as a cause of calf diarrhea on dairy farms.


Asunto(s)
Enfermedades de los Bovinos/parasitología , Criptosporidiosis/parasitología , Cryptosporidium parvum/aislamiento & purificación , Agua/parasitología , Animales , Bovinos , Enfermedades de los Bovinos/epidemiología , Criptosporidiosis/epidemiología , Industria Lechera , Diarrea/parasitología , Diarrea/veterinaria , Brotes de Enfermedades/veterinaria , Heces/parasitología , Femenino
4.
Pol J Vet Sci ; 24(2): 217-223, 2021 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-34250772

RESUMEN

Blastocystis sp. is one of the most frequently detected intestinal parasites in humans and can inhabit a wide range of animals. Close contact with animals is one of the transmission factors of Blastocystis sp. infection in humans. In this study, we aimed to investigate the molecular prevalence and subtypes of Blastocystis sp. in stray cats living in Izmir, Turkey. The PCR target- ing the barcode region in the SSU rRNA gene was performed with DNA samples isolated from feces (n:465) to investigate the presence of Blastocystis sp. PCR positive samples were sequen- ced for subtyping analysis. Among the samples analyzed, Blastocystis sp. DNA was detected in 17 (3.65%) of them and sequence data were obtained from only seven isolates. Phylogenetic analysis showed that seven Blastocystis sp. isolates clustered with the reference Blastocystis ST4 isolates. Similarity rates were between 83.22% and 99.25%. In addition, Blastocystis database results confirmed that all of these were "allele 42" corresponding to ST4. As a result, the present study shows for the first time the presence of "ST4 allele 42", the prevalent subtype in humans, in stray cats in Izmir, Turkey. This finding supports the notion that stray cats can be a source of Blastocystis sp. infection in humans.


Asunto(s)
Infecciones por Blastocystis/veterinaria , Blastocystis/clasificación , Enfermedades de los Gatos/parasitología , Animales , Blastocystis/genética , Infecciones por Blastocystis/epidemiología , Infecciones por Blastocystis/parasitología , Gatos , Filogenia , Turquía/epidemiología
5.
J Nutr Health Aging ; 23(7): 617-622, 2019.
Artículo en Inglés | MEDLINE | ID: mdl-31367725

RESUMEN

OBJECTIVE: (1) To evaluate geriatric syndromes using the Rapid Geriatric Assessment; (2) To investigate possible association of geriatric syndomes with physical activity and sleep quality in adults aged more than 65 years who applied to outpatients physical medicine and rehabilitation clinic. DESIGN: A cross-sectional study. SETTING: Outpatient physical medicine and rehabilitation clinic in Edirne, Turkey. PARTICIPANTS: A total of 56 adults (mean aged 69.7 ± 4.0 (range, 65-80) years, 33 women). MEASUREMENTS: The Rapid Geriatric Assessment, which includes the FRAIL Questionnaire Screening Tool for frailty, Simplified Nutritional Assessment Questionnaire (SNAQ), SARC-F Screen for Sarcopenia, and Rapid Cognitive Screen (RCS), was used to assess geriatric syndromes. The International Physical Activity Questionnaire (IPAQ) was used to obtain data regarding health-related physical activity. The Pittsburgh Sleep Quality Index (PSQI) was used to measure sleep quality during the past month. RESULTS: The mean age of the patients was 69.7 ± 4.0 years. Of the 56 patients, 12.5% were frail, 50.0% were pre-frail, 35.7% had sarcopenia, 44.6% had a risk of weight loss, 33.9% had dementia, 57.1% were physically inactive, and 53.6% had poor sleep quality. The total FRAIL and SARC-F scores were positively correlated with the global PSQI score (correlation coefficient (r) = 0.300, p < 0.05; r = 0,327, p < 0.05, respectively) and negatively correlated with the total RCS score (r= -0,267, p < 0.05; r = -0,314, p < 0.05, respectively)). The total FRAIL score was positively correlated with the SARC-F score (r = 0.695, p < 0.001), and the concurrence of frailty and sarcopenia in the same patients was 10.7%. The global PSQI score was negatively correlated with the SNAQ score (r = -0.273, p < 0.05). CONCLUSION: Frailty and sarcopenia were positively correlated with poor sleep quality and negatively correlated with cognition and physical activity. In clinical practice, the Rapid Geriatric Assessment and determination of physical activity level could assist in disability prevention.


Asunto(s)
Ejercicio Físico/fisiología , Fragilidad/prevención & control , Evaluación Geriátrica/métodos , Sueño/fisiología , Anciano , Anciano de 80 o más Años , Estudios Transversales , Demencia/diagnóstico , Evaluación de la Discapacidad , Personas con Discapacidad , Femenino , Anciano Frágil/estadística & datos numéricos , Fragilidad/diagnóstico , Humanos , Masculino , Evaluación Nutricional , Sarcopenia/diagnóstico , Encuestas y Cuestionarios , Turquía
6.
Appl Neuropsychol Child ; 7(2): 143-149, 2018.
Artículo en Inglés | MEDLINE | ID: mdl-28071971

RESUMEN

Cobalamin C (CblC) disease is the most common inborn error of cobalamin metabolism and recent data has indicated a higher prevalence among children of Hispanic heritage in particular. The purpose of this study was to (a) describe the neuropsychological characteristics of a pilot sample of Hispanic children with CblC disease and (b) explore potential differences in outcome based on underlying genetic mutation(s) and biochemical levels. Six Hispanic children (ages 2-10) diagnosed with CblC disease through newborn screening (NBS) underwent neuropsychological evaluation with a bilingual examiner. Biochemical levels and underlying mutation(s) were obtained through medical records. The overall sample performed below normative expectations across neuropsychological domains, including general cognition, adaptive functioning, language ability, and visual-motor integration. Underlying mutations and associative clinical phenotypes were found to significantly predict general cognitive abilities, while plasma methionine and Hcy at the time of diagnosis were significantly correlated with language outcomes. Despite limited sample size, results indicate that Hispanic children with CblC disease detected through NBS and treated early experience neuropsychological deficits even when treated with current standard treatments. However, consistent with prior research in non-Hispanic children with CblC disease, underlying mutations and early biochemical levels may predict better outcomes in this population as well.


Asunto(s)
Trastornos del Conocimiento/diagnóstico , Trastornos del Conocimiento/etiología , Homocistinuria/complicaciones , Homocistinuria/diagnóstico , Tamizaje Neonatal , Pruebas Neuropsicológicas , Deficiencia de Vitamina B 12/congénito , Factores de Edad , Área Bajo la Curva , Niño , Preescolar , Femenino , Hispánicos o Latinos , Homocistinuria/genética , Humanos , Recién Nacido , Trastornos del Desarrollo del Lenguaje/etiología , Masculino , Metionina/sangre , Vitamina B 12/genética , Vitamina B 12/metabolismo , Deficiencia de Vitamina B 12/complicaciones , Deficiencia de Vitamina B 12/diagnóstico , Deficiencia de Vitamina B 12/genética
8.
Anaesthesist ; 66(10): 782-785, 2017 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-28795197

RESUMEN

The brachial plexus is commonly blocked at the interscalene level for shoulder and proximal humeral surgery. There are only a few publications about the interscalene technique in pediatric patients for a peripheral nerve block. Ultrasound-guided peripheral nerve block has become increasingly more popular for pediatric patients because of high success rates and safety concerns. We used ultrasound-guided interscalene brachial plexus block in an 18-month-old child with an acute upper respiratory infection who had a supracondylar fracture of the humerus.


Asunto(s)
Bloqueo del Plexo Braquial/métodos , Infecciones del Sistema Respiratorio/complicaciones , Ultrasonografía Intervencional/métodos , Plexo Braquial/diagnóstico por imagen , Femenino , Fracturas Óseas/cirugía , Humanos , Húmero , Lactante
9.
Med Princ Pract ; 26(1): 50-56, 2017.
Artículo en Inglés | MEDLINE | ID: mdl-27780164

RESUMEN

OBJECTIVE: To investigate the symptoms of lung cancer in Turkey and to evaluate approaches to alleviate these symptoms. SUBJECTS AND METHODS: This study included 1,245 lung cancer patients from 26 centers in Turkey. Demographic characteristics as well as information regarding the disease and treatments were obtained from medical records and patient interviews. Symptoms were evaluated using the Edmonton Symptom Assessment Scale (ESAS) and were graded on a scale between 0 and 10 points. Data were compared using the χ2, Student t, and Mann-Whitney U tests. Potential predictors of symptoms were analyzed using logistic regression analysis. RESULTS: The most common symptom was tiredness (n = 1,002; 82.1%), followed by dyspnea (n = 845; 69.3%), appetite loss (n = 801; 65.7%), pain (n = 798; 65.4%), drowsiness (n = 742; 60.8%), anxiety (n = 704; 57.7%), depression (n = 623; 51.1%), and nausea (n = 557; 45.5%). Of the 1,245 patients, 590 (48.4%) had difficulty in initiating or maintaining sleep. The symptoms were more severe in stages III and IV. Logistic regression analysis indicated a clear association between demographic characteristics and symptom distress, as well as between symptom distress (except nausea) and well-being. Overall, 804 (65.4%) patients used analgesics, 630 (51.5%) received treatment for dyspnea, 242 (19.8%) used enteral/parenteral nutrition, 132 (10.8%) used appetite stimulants, and 129 (10.6%) used anxiolytics/antidepressants. Of the 799 patients who received analgesics, 173 (21.7%) reported that their symptoms were under control, and also those on other various treatment modalities (dyspnea: 78/627 [12.4%], appetite stimulant: 25/132 [18.9%], and anxiolytics/antidepressants: 25/129 [19.4%]) reported that their symptoms were controlled. CONCLUSION: In this study, the symptoms progressed and became more severe in the advanced stages of lung cancer, and palliative treatment was insufficient in most of the patients in Turkey.


Asunto(s)
Neoplasias Pulmonares/complicaciones , Neoplasias Pulmonares/psicología , Neoplasias de Células Escamosas , Cuidados Paliativos , Adulto , Anciano , Analgésicos/uso terapéutico , Comorbilidad , Disnea/complicaciones , Disnea/epidemiología , Fatiga/complicaciones , Fatiga/epidemiología , Femenino , Humanos , Entrevistas como Asunto , Modelos Logísticos , Neoplasias Pulmonares/terapia , Masculino , Persona de Mediana Edad , Estadificación de Neoplasias , Dolor/complicaciones , Dolor/epidemiología , Calidad de Vida , Turquía/epidemiología
10.
Invest Ophthalmol Vis Sci ; 56(13): 7875-87, 2015 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-26658511

RESUMEN

PURPOSE: To describe in detail the retinal structure and function of a group of patients with cobalamin C (cblC) disease. METHODS: Patients (n = 11, age 4 months to 15 years) with cblC disease (9/11, early onset) diagnosed by newborn screening underwent complete ophthalmic examinations, fundus photography, near-infrared reflectance imaging, and spectral-domain optical coherence tomography (SD-OCT). Electroretinograms (ERGs) were performed in a subset of patients. RESULTS: Patients carried homozygous or compound heterozygote mutations in the methylmalonic aciduria and homocystinuria type C (MMACHC) gene. Late-onset patients had a normal exam. All early-onset patients showed a maculopathy; older subjects had a retina-wide degeneration (n = 4; >7 years of age). In general, retinal changes were first observed before 1 year of age and progressed within months to a well-established maculopathy. Pseudocolobomas were documented in three patients. Measurable visual acuities ranged from 20/200 to 20/540. Nystagmus was present in 8/11 patients; 5/6 patients had normal ERGs; 1/6 had reduced rod-mediated responses. Spectral-domain OCT showed macular thinning, with severe ganglion cell layer (GCL) and outer nuclear layer (ONL) loss. Inner retinal thickening was observed in areas of total GCL/ONL loss. A normal lamination pattern in the peripapillary nasal retina was often seen despite severe central and/or retina-wide disease. CONCLUSIONS: Patients with early-onset cblC and MMACHC mutations showed an early-onset, unusually fast-progressing maculopathy with severe central ONL and GCL loss. An abnormally thickened inner retina supports a remodeling response to both photoreceptor and ganglion cell degeneration and/or an interference with normal development in early-onset cblC.


Asunto(s)
Errores Innatos del Metabolismo de los Aminoácidos/complicaciones , Degeneración Retiniana/etiología , Células Ganglionares de la Retina/patología , Adolescente , Errores Innatos del Metabolismo de los Aminoácidos/diagnóstico , Niño , Preescolar , Electrorretinografía , Femenino , Humanos , Lactante , Masculino , Degeneración Retiniana/diagnóstico , Índice de Severidad de la Enfermedad , Tomografía de Coherencia Óptica/métodos , Agudeza Visual
11.
Ophthalmic Genet ; 36(4): 339-48, 2015.
Artículo en Inglés | MEDLINE | ID: mdl-24512365

RESUMEN

PURPOSE: To describe the retinal structure in a patient with cobalamin C (cblC) disease. METHODS: A 13-year-old male patient diagnosed with cblC disease during a perinatal metabolic screening prompted by jaundice and hypotony underwent ophthalmic examinations, electroretinography (ERG) and spectral domain optical coherence tomography (SD-OCT). RESULTS: The patient carried a homozygous (c.271dupA) mutation in the methylmalonic aciduria and homocystinuria type C (MMACHC) gene. At age 3 months he had a normal eye exam. A pigmentary maculopathy progressed to chorioretinal atrophy from 5-10 months. ERG at 7 months was normal. A nystagmus remained stable since the age of 2 years. At age 13, visual acuity was 20/250 (right eye) and 20/400 (left eye), with a +5.00 D correction, a level of vision maintained since first measurable at age 5 years. SD-OCT showed bilateral macular coloboma-like lesions; there was also a thickened surface layer with ganglion cell layer thinning. Photoreceptor outer segment loss and thinning of the outer nuclear layer (ONL) transitioned to regions with no discernible ONL with a delaminated, thickened, inner retina. CONCLUSIONS: A thick surface layer near the optic nerve resembling an immature retina and an initially normal macula that rapidly developed coloboma-like lesions suggest there may be an interference with retinal/foveal development in cblC, a mechanism of maculopathy that may be shared by other early onset retinal degenerations. Photoreceptor loss and inner retinal remodeling confirm associated photoreceptor degeneration.


Asunto(s)
Homocistinuria/diagnóstico , Retina/patología , Degeneración Retiniana/diagnóstico , Deficiencia de Vitamina B 12/congénito , Adolescente , Proteínas Portadoras/genética , Electrorretinografía , Homocistinuria/genética , Humanos , Masculino , Oxidorreductasas , Degeneración Retiniana/genética , Células Ganglionares de la Retina/patología , Segmento Externo de las Células Fotorreceptoras Retinianas/patología , Tomografía de Coherencia Óptica , Agudeza Visual , Deficiencia de Vitamina B 12/diagnóstico , Deficiencia de Vitamina B 12/genética
15.
Spine Deform ; 2(2): 131-142, 2014 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-27927379

RESUMEN

STUDY DESIGN: A total of 126 scoliosis patients admitted to the hospital were screened for concomitant cervical pathologies. OBJECTIVES: To investigate the prevalence of cervical spine pathologies and the clinical relevance of magnetic resonance imaging (MRI) in the evaluation of patients with neuromuscular, congenital, syndromic, and idiopathic scoliosis. BACKGROUND SUMMARY: With the development of MRI, upper neural axis abnormalities such as syringomyelia and Chiari malformation are increasingly being found in patients with scoliosis, but no report in the literature describes other pathologies in the cervical area seen concomitant with different scoliosis types. METHODS: A total of 126 consecutive patients who were classified as having neuromuscular, congenital, syndromic, and idiopathic scoliosis were retrospectively evaluated. Data regarding cervical neural axis abnormalities obtained from the MRI studies were analyzed and classified into each type of scoliosis group. RESULTS: A total of 126 patients with scoliosis were evaluated for hindbrain and cervical spine anomalies. Patients were divided into 4 groups regarding the type of scoliosis. The cervical spine of all patients was evaluated with MRI and other radiologic methods when needed. The most frequently seen pathology was syringomyelia. Other pathologies found included congenital vertebral anomalies, Chiari malformation, arachnoid cyst, atlanto-axial dissociation, split cord, posterior vertebral fusion, vertebral hypoplasia, neurenteric cyst, myelomalacia, dermoid cyst, and decrease in craniovertebral angle. Cervical pathologies were most frequently seen in neuromuscular scoliosis, followed by congenital and syndromic groups. CONCLUSIONS: Cervical spinal pathologies vary according to the type of scoliosis. The number of cervical spinal pathologies diagnosed in idiopathic scoliosis patients was least compared with neuromuscular and syndromic groups. The most common pathology was syringomyelia, followed by congenital vertebral anomalies and cerebral tonsillar hernia. Preoperative MRI scan provides vital information regarding cervical spinal pathologies encountered in scoliosis patients.

16.
Pediatr Dev Pathol ; 16(6): 415-24, 2013.
Artículo en Inglés | MEDLINE | ID: mdl-24050659

RESUMEN

Mitochondrial DNA (mtDNA) depletion syndrome is a relatively novel cause of hepatic dysfunction in the pediatric population. It is caused by mutations in either mtDNA or nuclear DNA (nDNA) that result in a quantitative reduction in mtDNA and, in turn, dysfunctional oxidative phosphorylation. In infants, it results in the hepatocerebral phenotype, characterized by hyperbilirubinemia, coagulopathy, lactic acidosis, hypoglycemia, lethargy, encephalopathy, developmental delay, and hypotonia. Three infants diagnosed with mtDNA depletion syndrome at The Children's Hospital of Philadelphia were identified, and their clinical presentation, disease course, and histologic and ultrastructural features of liver samples (pre- and postmortem) were characterized. While a different mutant gene was identified in each child, they all showed clinical evidence of metabolic dysfunction soon after birth and expired by 1 year of age. Steatosis, cholestasis, and cytoplasmic crowding by atypical mitochondria were consistent pathologic liver findings. Other findings included hepatocyte hypereosinophilia, fibrosis, and hemosiderosis. This analysis provides insight into the important clinical signs/symptoms and histopathologic and ultrastructural features of mtDNA depletion syndrome in infants and young children. Knowledge of these characteristics will facilitate early recognition and appropriate treatment of this rare disorder. Additionally, ultrastructural evaluation of liver samples by electron microscopy is an important diagnostic component of hepatic dysfunction caused by metabolic abnormalities. This type of analysis should be routinely employed in the setting of unexplained cholestasis, especially when accompanied by steatosis and hepatocyte hypereosinophilia.


Asunto(s)
ADN Mitocondrial , Hepatopatías/patología , Enfermedades Mitocondriales/patología , ADN Mitocondrial/genética , Femenino , Humanos , Lactante , Recién Nacido , Hepatopatías/genética , Enfermedades Mitocondriales/genética
17.
J Dairy Sci ; 95(2): 602-8, 2012 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-22281324

RESUMEN

A simple, precise, accurate, and validated reverse-phase HPLC method was developed for the determination of melamine in milk (pasteurized and UHT milk) and dairy products (powdered infant formula, fruit yogurt, soft cheese, and milk powder). Following extraction with acetonitrile:water (50:50, vol/vol), samples were purified by filter (0.45 µm), separated on a Nucleosil C8 column (4.6 mm × 250 mm, 3 µm) with acetonitrile:10 mmol/L sodium L-octane sulfonate (pH 3.1; 15:85, vol/vol) as mobile phase at a flow rate of 1 mL/min, and determined by a photodiode array detector. A linear calibration curve was obtained in the concentration range from 0.05 to 5 mg/kg. Milk and dairy products were fortified with melamine at 4 levels producing average recovery yields of 95 to 109%. The limits of detection and quantification of melamine were 35 to 110 and 105 to 340 µg/kg, respectively. The method was then used to analyze 300 samples of milk and dairy products purchased from major retailers in Turkey. Melamine was not found in infant formulas and pasteurized UHT milk, whereas 2% of cheese, 8% of milk powder, and 44% of yogurt samples contained melamine at the 121, 694±146, and 294±98 µg/kg levels, respectively. These findings were below the limits set by the Codex Alimentarius Commission and European Union legislation. This is the first study to confirm the existence of melamine in milk and dairy products in Turkey. Consumption of foods containing these low levels of melamine does not constitute a health risk for consumers.


Asunto(s)
Cromatografía Líquida de Alta Presión/métodos , Productos Lácteos/análisis , Leche/química , Triazinas/análisis , Animales , Bovinos , Queso/análisis , Contaminación de Alimentos/análisis , Humanos , Lactante , Fórmulas Infantiles/química , Turquía , Yogur/análisis
18.
Genet Med ; 9(2): 108-16, 2007 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-17304052

RESUMEN

PURPOSE: Isobutyryl-CoA dehydrogenase deficiency is a defect in valine metabolism and was first reported in a child with cardiomyopathy, anemia, and secondary carnitine deficiency. We identified 13 isobutyryl-CoA dehydrogenase-deficient patients through newborn screening due to an elevation of C4-acylcarnitine in dried blood spots. Because C4-acylcarnitine represents both isobutyryl- and butyrylcarnitine, elevations are not specific for isobutyryl-CoA dehydrogenase deficiency but are also observed in short-chain acyl-CoA dehydrogenase deficiency. To delineate the correct diagnosis, we have developed a follow-up algorithm for abnormal C4-acylcarnitine newborn screening results based on the comparison of biomarkers for both conditions. METHODS: Fibroblast cultures were established from infants with C4-acylcarnitine elevations, and the analysis of in vitro acylcarnitine profiles provided confirmation of either isobutyryl-CoA dehydrogenase or short-chain acyl-CoA dehydrogenase deficiency. Isobutyryl-CoA dehydrogenase deficiency was further confirmed by molecular genetic analysis of the gene encoding isobutyryl-CoA dehydrogenase (ACAD8). Plasma acylcarnitines, urine acylglycines, organic acids, and urine acylcarnitine results were compared between isobutyryl-CoA dehydrogenase- and short-chain acyl-CoA dehydrogenase-deficient patients. RESULTS: Quantification of C4-acylcarnitine in plasma and urine as well as ethylmalonic acid in urine allows the differentiation of isobutyryl-CoA dehydrogenase-deficient from short-chain acyl-CoA dehydrogenase-deficient cases. In nine unrelated patients with isobutyryl-CoA dehydrogenase deficiency, 10 missense mutations were identified in ACAD8. To date, 10 of the 13 isobutyryl-CoA dehydrogenase-deficient patients remain asymptomatic, two were lost to follow-up, and one patient required frequent hospitalizations due to emesis and dehydration but is developing normally at 5 years of age. CONCLUSION: Although the natural history of isobutyryl-CoA dehydrogenase deficiency must be further defined, we have developed an algorithm for rapid laboratory evaluation of neonates with an isolated elevation of C4-acylcarnitine identified through newborn screening.


Asunto(s)
Algoritmos , Pruebas Genéticas/métodos , Oxidorreductasas actuantes sobre Donantes de Grupo CH-CH/deficiencia , Oxidorreductasas actuantes sobre Donantes de Grupo CH-CH/genética , Acil-CoA Deshidrogenasas/genética , Carnitina/análogos & derivados , Carnitina/sangre , Carnitina/orina , Diagnóstico Diferencial , Humanos , Recién Nacido , Estados Unidos
19.
Z Gerontol Geriatr ; 32(5): 312-7, 1999 Oct.
Artículo en Alemán | MEDLINE | ID: mdl-10552169

RESUMEN

OBJECTIVE: to examine mortality, mobility, pain, institutionalization rates six month after hip fractures. DESIGN: observational study, non-selected consecutive patients, time-set protocol. SETTING: urban area (population n = 116,5000), five hospitals. PARTICIPANTS: hip fracture patients (n = 214), age 65 + years (mean 82.4 years). MEASUREMENTS: age, gender, prefracture status, operative procedures, complications, comorbidity, cognition (MMSE), depression (GDS), fear of falling, ADL (Barthel) and mobility and pain status (SAHFE protocol). RESULTS: the incidence for this age group was 636.9/100,000, 31.8% were institutionalized elderly. 84% of the patients were female. Pre-existing comorbidity showed a high prevalence of neurodegenerative (cognitive deficits 53. 6%, Parkinson's disease/syndrome 11.2%) and cerebrovascular diseases (16.8%). Six month postfracture, the mortality was 17.6%. From those surviving 76.2% did walk indoors, 58.5% did also walk outdoors. Independent to dress were 54.6%. Severe pain was reported by 10.2%, whereas 36.9% described no pain. The institutionalization rate at six month was 19.0%. CONCLUSIONS: the study showed considerable mortality, a significant loss in function and social disintegration. Considerable differences were observed for subgroups of patients. Future treatment should focus on risk stratification and include postdischarge training programs. Moreover, preventive strategies should be implemented for high risk groups, such as ambulating patients with a history of stroke. Parkinson's disease and syndrome, dementia and nursing home residents.


Asunto(s)
Actividades Cotidianas/clasificación , Evaluación Geriátrica/estadística & datos numéricos , Fracturas de Cadera/rehabilitación , Ajuste Social , Actividades Cotidianas/psicología , Anciano , Anciano de 80 o más Años , Causas de Muerte , Comorbilidad , Evaluación de la Discapacidad , Femenino , Estudios de Seguimiento , Fracturas de Cadera/mortalidad , Fracturas de Cadera/psicología , Humanos , Institucionalización/estadística & datos numéricos , Masculino , Estudios Prospectivos , Factores de Riesgo
20.
J Clin Pediatr Dent ; 22(4): 335-40, 1998.
Artículo en Inglés | MEDLINE | ID: mdl-9796505

RESUMEN

The purpose of the study was to assess the effect of daily supervised rinsing with a specially formulated, alum-containing mouthrinse on plaque and salivary levels of S. mutans, S. mitis and S. salivarius in caries susceptible children (12-14 years old) and to monitor the effect on the oral tissues and acceptability to subjects. Forty-five subjects were divided into 3 groups (n = 15). Group I received an experimental group with a mouthrinse containing hydrated aluminum potassium sulfate (alum). Group 2 received a vehicle control group containing the same mouthrinse, but without alum and Group 3 had a treatment control with distilled water. All subjects continued normal oral hygiene habits during the study. Salivary and plaque levels were obtained at base line, 2 weeks and 4 weeks and evaluated for microbiologic procedures. Also, potential adverse effects on oral tissues were performed during every visit. The mean plaque and salivary levels of oral Streptococcus (S. mutans, S. mitis, S. salivarius) for the experimental group were significantly reduced after 2 weeks and 4 weeks compared with baseline. The plaque and salivary levels of oral Streptococcus of experimental and vehicle control group differed statistically from each other after 4 weeks, with the strongest reduction in the experimental group and there was statistically difference between treatment control and vehicle control or experimental groups at each time interval. No evidence of deleterious effects to the oral tissues was observed. Daily use of an alum-containing mouthrinse was safe and produced significant reduction effect on plaque and salivary levels of oral Streptococcus and can be used in children for the preventive dentistry.


Asunto(s)
Compuestos de Alumbre/farmacología , Placa Dental/microbiología , Antisépticos Bucales/farmacología , Saliva/microbiología , Streptococcus/efectos de los fármacos , Adolescente , Compuestos de Alumbre/uso terapéutico , Análisis de Varianza , Niño , Índice CPO , Placa Dental/terapia , Método Doble Ciego , Femenino , Humanos , Masculino , Antisépticos Bucales/uso terapéutico , Streptococcus/aislamiento & purificación , Streptococcus mutans/efectos de los fármacos , Streptococcus mutans/aislamiento & purificación
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