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1.
Turk J Med Sci ; 52(3): 858-869, 2022 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-36326322

RESUMEN

BACKGROUND: Anesthetics are often used in animal experiments to achieve immobilization and relieve pain. However, many anesthetics can alter the dynamics of cardiovascular systems. We aimed to compare the effects of two frequently used anesthetics agents on heart rate variability (HRV) parameters in mice. METHODS: This observational study was performed between May and June 2014 in 21 male BALB/c mice aged 16-20 weeks. The animals were divided into three groups: pentobarbital (P), (n = 7); pentobarbital+fentanyl (P+F), (n = 7); and ketamine+xylazine (K+X), (n = 7). Surface electrocardiography (ECG) electrodes were placed in lead II configuration. The tachogram of RR intervals was obtained after R waves were detected using the Pan-Tompkins real-time QRS recognition algorithm. Frequency-domain, time-domain, and nonlinear HRV analyses were performed. RESULTS: The bradycardia effect was higher in the K+X group (p < 0.01). Time-domain indices were higher in group K+X compared to group P (p < 0.01) and group P+F (p < 0.001). Very low frequency (VLF) power was significantly lower in group K+X compared to group P and group P+F (p < 0.01). Low frequency (LF) power, low frequency/high frequency (LF/HF) ratio, and total power (TP) were higher in group K+X compared to group P (p < 0.01) and group P+F (p < 0.001). The detrended fluctuation analysis short-term parameter (DFAα1 ) was significantly higher in group K+X compared to group P+F (p < 0.05) and the long-term parameter (DFAα2 ) was lower in group K+X compared to group P (p < 0.05). Standard deviations SD1 and SD2 were higher in group K+X compared to group P (p < 0.001) and group P+F (p < 0.001), SD2/SD1 ratio was lower in group K+X compared to group P (p < 0.05) and group P+F (p < 0.05). Entropy measures did not differ between groups. DISCUSSION: HRV analyses, including nonlinear methods, indicated that a K+X combination reduces imbalance and disorder in the regulation of the autonomic nervous system (ANS) in comparison to both P and the P+F combination.


Asunto(s)
Anestesia , Anestésicos , Ketamina , Masculino , Ratones , Animales , Frecuencia Cardíaca/fisiología , Xilazina/farmacología , Ketamina/farmacología , Pentobarbital/farmacología , Electrocardiografía , Fentanilo
2.
Balkan J Med Genet ; 24(2): 55-64, 2021 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-36249523

RESUMEN

Although several microRNAs (miRNAs) have been associated with gastric cancer there is still the need for identification of stable and validated biomarkers. The purpose of this study was to determine the alterations of a specific set of miRNA levels in gastric adenocarcinoma tissues to identify and validate gastric cancer-specific miRNAs using paired normal and tumor samples in an independent patient cohort. Gastric adenocarcinoma and normal stomach tissue samples of 20 patients who underwent surgery for gastric cancer were studied. The miRNA expression profiling was performed for eight miRNAs in a total of 40 tissue samples using quantitative reverse transcription polymerase chain reaction (RT-qPCR). Six out of these eight miRNAs, namely, miR-375-3p, hsamiR-129-5p, miR-196a-5p, miR-376c-3p, miR-34c-5p and miR-767-5p, were significantly underexpressed in malignant tissues of our cohort. Furthermore, the expression of miR-662 although not significantly different between normal and tumor tissues, was inversely associated with age (r = -0.440, p = 0.049). The levels of miR-129-3p and miR34c-5p were correlated with an increase in the number of metastatic lymph nodes (r = 0.470, p = 0.036; r = 0.510, p = 0.020), while and miR-376c-3p levels were negatively associated with smoking (p = 0.043). In addition, we found that the variability of miRNA expression in cancerous tissues was lower than that in normal tissues. Alterations in miRNA expression in gastric adenocarcinoma tissues in comparison to healthy tissues of each individual serves for identification of consistent biomarkers that can be used for development of diagnostic tools for gastric cancer.

3.
J Hum Nutr Diet ; 33(3): 396-403, 2020 06.
Artículo en Inglés | MEDLINE | ID: mdl-31647139

RESUMEN

BACKGROUND: The present study investigated the effects of fat-protein (CFP) counting in addition to carbohydrate (CARB) counting for calculating prandial insulin dosage on blood glucose profile in patients with type 1 diabetes (T1D) on basal-bolus insulin therapy. METHODS: In this single centre, cross-over, randomised, controlled study, control meal (SM: standard meal using a carbohydrate counting method) and three test meals (HPM: high protein meal using a carbohydrate counting method; HPFM-a: high protein-fat meal using a carbohydrate counting method; HPFM-b: high protein-fat meal using a carbohydrate and fat-protein counting method) were compared on postprandial early (0-120 min), late (120-240 min) and total (0-240 min) glucose response in 30 patients with T1D, aged 16-18 years. RESULTS: The glucose levels of 0-90 min did not change after different meal consumptions (P > 0.05), whereas 120-240 min glucose levels were higher after HPFM-a consumption compared to HPFM-b consumption (P < 0.05). There were no significant differences between meals with respect to the early postprandial glucose response (0-120 min) (P = 0.405). In late response (120-240 min), HPFM-b [area under the curve (AUC) = 20 609 (582) mg dL-1  × dk] was significantly lower than SM [AUC = 24 092 (9015) mg dL-1  × dk], HPM [AUC = 24 072 (5853) mg dL-1  × dk] and HPFM-a [AUC = 25 986 (6979) mg dL-1  × dk] (P = 0.032). CONCLUSIONS: Meal-related insulin dosing based on carbohydrate plus fat/protein counting has given positive results in the postprandial glycaemic profile as a result of lower postprandial glycaemic levels compared to conventional carbohydrate counting in patients with T1D after a high protein-fat meal.


Asunto(s)
Diabetes Mellitus Tipo 1/tratamiento farmacológico , Dieta para Diabéticos/métodos , Hipoglucemiantes/administración & dosificación , Insulina/administración & dosificación , Comidas/fisiología , Adolescente , Glucemia/metabolismo , Estudios Cruzados , Diabetes Mellitus Tipo 1/sangre , Carbohidratos de la Dieta/análisis , Grasas de la Dieta/análisis , Proteínas en la Dieta/análisis , Femenino , Humanos , Masculino , Periodo Posprandial/fisiología , Resultado del Tratamiento
4.
Br J Nutr ; 122(8): 942-950, 2019 10 28.
Artículo en Inglés | MEDLINE | ID: mdl-31182181

RESUMEN

The food insulin index (II) is a novel classification to rank foods based on their physiological insulin demand relative to an isoenergetic reference food and may be a valid predictor of postprandial insulin responses and appetite. The present study aimed to compare the postprandial metabolic responses and appetite sensations to two macronutrient- and glycaemic index-matched meals with either high or low II in obese adolescents with insulin resistance (IR). A randomised, single-blind and cross-over trial included fifteen obese adolescents aged 12-18 years with IR. All participants were provided with two different breakfasts: low glycaemic index, low insulin index (LGI-LII) and low glycaemic index, high insulin index (LGI-HII), with a 1-week washout period between meals. At time 0 (just before breakfast), 15, 30, 45, 60, 90, 120, 180 and 240 min after the meal, serum glucose, insulin and C-peptide levels and appetite scores were measured. At the end of 4 h, participants were served ad libitum lunch. Early (0-30 min), late (45-240 min) and total (0-240 min) postprandial insulin responses were lowered by 56·1, 34·6 and 35·6 % after the LGI-LII meal v. LGI-HII meal (P < 0·05). The feeling of hunger was also decreased by 25·8 and 27·5 % after the LGI-LII meal v. LGI-HII meal during the late and total responses (P < 0·05). The calculation II of meals or diets may be a useful dietary approach to reduce postprandial hyperinsulinaemia and the perceived hunger in obese adolescents with IR.


Asunto(s)
Apetito/fisiología , Índice Glucémico/fisiología , Resistencia a la Insulina/fisiología , Insulina/sangre , Obesidad Infantil/sangre , Adolescente , Niño , Estudios Cruzados , Dieta/métodos , Femenino , Humanos , Masculino , Comidas , Obesidad Infantil/dietoterapia , Periodo Posprandial/fisiología , Método Simple Ciego
5.
Mol Genet Metab ; 116(4): 242-51, 2015 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-26498184

RESUMEN

INTRODUCTION: The few published case reports of co-existent disease with phenylketonuria (PKU) are mainly genetic and familial conditions from consanguineous marriages. The clinical and demographic features of 30 subjects with PKU and co-existent conditions were described in this multi-centre, retrospective cohort study. METHODS: Diagnostic age of PKU and co-existent condition, treatment regimen, and impact of co-existent condition on blood phenylalanine (Phe) control and PKU management were reported. RESULTS: 30 patients (11 males and 19 females), with PKU and a co-existent condition, current median age of 14 years (range 0.4 to 40 years) from 13 treatment centres from Europe and Turkey were described. There were 21 co-existent conditions with PKU; 9 were autoimmune; 6 gastrointestinal, 3 chromosomal abnormalities, and 3 inherited conditions. There were only 5 cases of parental consanguinity. Some patients required conflicting diet therapy (n=5), nutritional support (n=7) and 5 children had feeding problems. There was delayed diagnosis of co-existent conditions (n=3); delayed treatment of PKU (n=1) and amenorrhea associated with Grave's disease that masked a PKU pregnancy for 12 weeks. Co-existent conditions adversely affected blood Phe control in 47% (n=14) of patients. Some co-existent conditions increased the complexity of disease management and increased management burden for patients and caregivers. CONCLUSIONS: Occurrence of co-existent disease is not uncommon in patients with PKU and so investigation for co-existent disorders when the clinical history is not completely consistent with PKU is essential. Integrating care of a second condition with PKU management is challenging.


Asunto(s)
Enfermedades Autoinmunes/terapia , Aberraciones Cromosómicas , Manejo de la Enfermedad , Enfermedades Gastrointestinales/terapia , Fenilalanina/sangre , Fenilcetonurias/terapia , Adolescente , Adulto , Enfermedades Autoinmunes/sangre , Enfermedades Autoinmunes/complicaciones , Enfermedades Autoinmunes/diagnóstico , Biopterinas/análogos & derivados , Biopterinas/uso terapéutico , Niño , Preescolar , Consanguinidad , Dieta , Europa (Continente) , Femenino , Enfermedades Gastrointestinales/sangre , Enfermedades Gastrointestinales/complicaciones , Enfermedades Gastrointestinales/diagnóstico , Humanos , Lactante , Masculino , Fenilcetonurias/sangre , Fenilcetonurias/complicaciones , Fenilcetonurias/diagnóstico , Embarazo , Estudios Retrospectivos , Turquía
6.
Mol Genet Metab ; 115(1): 17-22, 2015 May.
Artículo en Inglés | MEDLINE | ID: mdl-25862610

RESUMEN

BACKGROUND: There appears little consensus concerning protein requirements in phenylketonuria (PKU). METHODS: A questionnaire completed by 63 European and Turkish IMD centres from 18 countries collected data on prescribed total protein intake (natural/intact protein and phenylalanine-free protein substitute [PS]) by age, administration frequency and method, monitoring, and type of protein substitute. Data were analysed by European region using descriptive statistics. RESULTS: The amount of total protein (from PS and natural/intact protein) varied according to the European region. Higher median amounts of total protein were prescribed in infants and children in Northern Europe (n=24 centres) (infants <1 year, >2-3g/kg/day; 1-3 years of age, >2-3 g/kg/day; 4-10 years of age, >1.5-2.5 g/kg/day) and Southern Europe (n=10 centres) (infants <1 year, 2.5 g/kg/day, 1-3 years of age, 2 g/kg/day; 4-10 years of age, 1.5-2 g/kg/day), than by Eastern Europe (n=4 centres) (infants <1 year, 2.5 g/kg/day, 1-3 years of age, >2-2.5 g/kg/day; 4-10 years of age, >1.5-2 g/kg/day) and with Western Europe (n=25 centres) giving the least (infants <1 year, >2-2.5 g/kg/day, 1-3 years of age, 1.5-2 g/kg/day; 4-10 years of age, 1-1.5 g/kg/day). Total protein prescription was similar in patients aged >10 years (1-1.5 g/kg/day) and maternal patients (1-1.5 g/kg/day). CONCLUSIONS: The amounts of total protein prescribed varied between European countries and appeared to be influenced by geographical region. In PKU, all gave higher than the recommended 2007 WHO/FAO/UNU safe levels of protein intake for the general population.


Asunto(s)
Aminoácidos/administración & dosificación , Caseínas/administración & dosificación , Proteínas en la Dieta/administración & dosificación , Suplementos Dietéticos , Fragmentos de Péptidos/administración & dosificación , Fenilcetonurias/dietoterapia , Adulto , Niño , Preescolar , Europa (Continente) , Femenino , Humanos , Lactante , Recién Nacido , Masculino , Fenilalanina , Encuestas y Cuestionarios , Turquía , Organización Mundial de la Salud
7.
Physiol Int ; 2024 Jul 18.
Artículo en Inglés | MEDLINE | ID: mdl-39024024

RESUMEN

Anxiety is a common issue among university students, many of them experience anxiety, depression, and stress during their school life. This study aimed to compare the acute physiological stress responses of students divided into two groups according to their perceived anxiety levels (positive test anxiety, PTA+, and negative test anxiety, PTA-). Heart rate variability (HRV) and electrodermal activity (EDA) were used to assess stress.Thirty-one healthy volunteers participated in the study. Participants completed anxiety assessments, including the Westside Test Anxiety Scale (WTAS), the State-Trait Anxiety Inventory (STAI), and the Test State Anxiety Inventory (TSAI). Based on their scores, participants were categorized into PTA+ and PTA- groups. All participants underwent 24-h continuous recordings of pulse and electrodermal activity (EDA) on two separate occasions: one day prior to a written exam and during a designated exam-free day serving as a baseline control.We compared the HRV and EDA data obtained on a regular day and on an exam day between the two groups. Results showed that the PTA+ group had significantly higher heart rate, stress index, low frequency, and short-term detrended fluctuation analysis (DFAα1) on the exam day. The tonic EDA component was also higher in the PTA+ group. Stress-related HRV and EDA parameters were negatively correlated with exam scores.In conclusion, the study found that physiological stress indicators obtained from HRV and EDA are associated with perceived exam anxiety in students.

8.
Mol Genet Metab ; 110 Suppl: S6-17, 2013.
Artículo en Inglés | MEDLINE | ID: mdl-24113686

RESUMEN

Patients with phenylketonuria (PKU) encompass an 'at risk' group for micronutrient imbalances. Optimal nutrient status is challenging particularly when a substantial proportion of nutrient intake is from non-natural sources. In PKU patients following dietary treatment, supplementation with micronutrients is a necessity and vitamins and minerals should either be added to supplement phenylalanine-free l-amino acids or given separately. In this literature review of papers published since 1990, the prevalence of vitamin and mineral deficiency is described, with reference to age of treatment commencement, type of treatment, dietary compliance, and dietary practices. Biological micronutrient inadequacies have been mainly reported for zinc, selenium, iron, vitamin B12 and folate. The aetiology of these results and possible clinical and biological implications are discussed. In PKU there is not a simple relationship between the dietary intake and nutritional status, and there are many independent and interrelated complex factors that should be considered other than quantitative nutritional intake.


Asunto(s)
Suplementos Dietéticos , Micronutrientes/deficiencia , Minerales/administración & dosificación , Estado Nutricional , Fenilcetonurias/fisiopatología , Deficiencia de Vitamina B 6/etiología , Vitaminas/administración & dosificación , Adolescente , Adulto , Envejecimiento , Niño , Preescolar , Femenino , Humanos , Lactante , Masculino , Micronutrientes/administración & dosificación , Necesidades Nutricionales , Cooperación del Paciente , Fenilcetonurias/complicaciones , Fenilcetonurias/dietoterapia , Adulto Joven
9.
Mol Genet Metab ; 110 Suppl: S1-5, 2013.
Artículo en Inglés | MEDLINE | ID: mdl-24018009

RESUMEN

For almost all patients with PKU, a low phenylalanine diet is the basis of the treatment despite a widely varying natural protein tolerance. A vitamin and mineral supplement is essential and it is commonly added to a phenylalanine-free (phe-free) source of L-amino acids. In PKU, many phe-free L-amino acid supplements have age-specific vitamin and mineral profiles to meet individual requirements. The main micronutrient sources are chemically derived and their delivery dosage is usually advised in three or more doses throughout the day. Within the EU, the composition of VM (vitamin and mineral) phe-free L-amino acid supplements is governed by the Foods for Special Medical Purposes (FSMP) directive (European Commission Directive number 1999/21/EC and amended by Directive 2006/141/EC). However the micronutrient composition of the majority fails to remain within FSMP micronutrient maximum limits per 100 kcal due to their low energy content and so compositional exceptions to the FSMP directive have to be granted for each supplement. All patients with PKU require an annual nutritional follow-up, until it has been proven that they are not at risk of any vitamin and mineral imbalances. When non-dietary treatments are used to either replace or act as an adjunct to diet therapy, the quality of micronutrient intake should still be considered important and monitored systematically. European guidelines are required about which micronutrients should be measured and the conditions (fasting status) for monitoring.


Asunto(s)
Micronutrientes/administración & dosificación , Minerales/administración & dosificación , Fenilcetonurias/dietoterapia , Vitaminas/administración & dosificación , Suplementos Dietéticos , Unión Europea , Humanos , Micronutrientes/efectos adversos , Minerales/efectos adversos , Fenilalanina/deficiencia , Fenilalanina/metabolismo , Vitaminas/efectos adversos
10.
Mol Genet Metab ; 108(2): 109-11, 2013 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-23266371

RESUMEN

Sapropterin treatment, with or without dietary treatment, improves blood phenylalanine control, increases phenylalanine tolerance, and may reduce the day-to-day dietary treatment burden in a subset of patients with phenylketonuria (PKU). Balancing the need for maintained control of blood phenylalanine with diet relaxation is complex when administering sapropterin. We present a series of seven patient cases with PKU that illustrate important aspects of using sapropterin with diet in the management of the disorder.


Asunto(s)
Biopterinas/análogos & derivados , Fenilcetonurias/tratamiento farmacológico , Adolescente , Biopterinas/administración & dosificación , Biopterinas/uso terapéutico , Niño , Preescolar , Dieta con Restricción de Proteínas , Femenino , Humanos , Lactante , Masculino , Cumplimiento de la Medicación , Fenilalanina/sangre , Fenilcetonurias/sangre , Fenilcetonurias/dietoterapia , Calidad de Vida , Resultado del Tratamiento , Adulto Joven
11.
Mol Genet Metab ; 105(3): 390-4, 2012 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-22217429

RESUMEN

BACKGROUND AND AIMS: To gather exploratory data on the costs and reimbursement of special dietary foods used in the management of phenylketonuria (PKU) from ten international specialist PKU centers. METHODS: Experts from each center provided data on retail costs of the three most frequently used phenylalanine-free protein substitutes and low-protein foods at their center; reimbursement of protein substitutes and low-protein foods; and state monetary benefits provided to PKU patients. RESULTS: The mean annual cost of protein substitutes across 4 age groups (2 y, 8 y, 15 y and adults) ranged from €4273 to €21,590 per patient. The cost of low-protein products also differed; the mean cost of low-protein bread varied from €0.04 to €1.60 per 100 kcal. All protein substitutes were either fully reimbursed or covered by health insurance. However, reimbursement for low-protein products varied and state benefits differed between centers. CONCLUSIONS: The variation in the cost and reimbursement of diet therapy and the level of additional state benefits for PKU patients demonstrates the large difference in expenditure on and access to PKU dietary products. This highlights the inequality between healthcare systems and access to special dietary products for people with PKU, ultimately leading to patients in some countries receiving better care than others.


Asunto(s)
Dieta con Restricción de Proteínas/economía , Fenilcetonurias/dietoterapia , Fenilcetonurias/economía , Mecanismo de Reembolso , Proteínas en la Dieta/administración & dosificación , Unión Europea , Alimentos/economía , Programas de Gobierno , Humanos , Fenilalanina , Fenilcetonurias/terapia
12.
J Hum Nutr Diet ; 25(1): 27-32, 2012 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-21733144

RESUMEN

BACKGROUND: In children with phenylketonuria (PKU), the daily weighing of the phenylalanine allowance from food is advocated. There is a need to develop nonweighed methods of measuring dietary phenylalanine, aiming to ease caregiver burden and possibly improve dietary adherence. The accuracy of three methods (household measures, digital photographs and weighing) for measuring 50-mg phenylalanine exchanges for PKU was investigated in a randomised, controlled trial. METHODS: There were 51 volunteers (32 females; 19 males; median age: 34years, range 13-77years), who were all unconnected with PKU. For three consecutive days, all volunteers attended a research centre and, each day, were randomly allocated a different method (household measures, digital photographs and weighing) for phenylalanine exchange measurement. On each day, they measured the amount of food equivalent to one 50-mg phenylalanine exchange for 24 common foods. All phenylalanine exchange samples (3672 samples) were then reweighed by the investigators. RESULTS: No method of measuring 50-mg phenylalanine exchanges was accurate when used by volunteers. The median percentages (range) of all food samples within 10% of target were only 67% (41-98), 44% (4-96) and 41% (4-98) for weighing, household measures and photographs, respectively. The respective median (range) of samples within 20% of the target weights were: 96% (51-100) weighing, 82% (10-100) photographs and 80% (6-100) household measures. No noteworthy difference in accuracy was observed between household measures and photographs. CONCLUSIONS: Volunteers not associated with PKU could not measure 50-mg phenylalanine exchanges accurately using weighing, household measurements or photographs. Therefore, it is important to consider developing methods for improving accuracy of measurement of 50-mg phenylalanine exchanges in PKU.


Asunto(s)
Dieta , Fenilalanina/administración & dosificación , Fenilcetonurias , Adolescente , Adulto , Anciano , Femenino , Humanos , Masculino , Persona de Mediana Edad , Fotograbar , Valores de Referencia , Reproducibilidad de los Resultados , Pesos y Medidas , Adulto Joven
13.
J Hum Nutr Diet ; 25(2): 111-6, 2012 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-22168396

RESUMEN

BACKGROUND: Tyrosinaemia type 1 (HT1) is treated with a tyrosine and phenylalanine-restricted diet, amino acids free of phenylalanine and tyrosine, and nitisinone (NTBC). Treatment guidelines recommend plasma tyrosine between 200-400 µm and phenylalanine at least >30 µm. There is little information on the diurnal variation of plasma tyrosine or phenylalanine in HT1. Low plasma phenylalanine <30 µm may be associated with poor growth and cognitive delay. The present study aimed to document diurnal variation of tyrosine and phenylalanine plasma concentrations and growth in children with HT1. METHODS: Median tyrosine and phenylalanine plasma concentrations were reviewed retrospectively over 3 years in 11 subjects (median age 4 years) with HT1. Subjects routinely collected morning fasting blood samples but afternoon nonfasted samples were taken in the clinic (<10% of samples). Growth Z-scores were calculated. RESULTS: The percentage of all plasma phenylalanine concentrations <30 µm was 8.6% and <40 µm was 13.6%. Only 2% of fasting morning phenylalanine concentrations were <30 µm, compared to 83% of nonfasting afternoon samples. All but one child had a height Z-score <0. CONCLUSIONS: Blood phenylalanine concentrations were consistently lower in the afternoon. Taking blood samples at variable time points in the day may lead to variation in interpreting dietary control. A detailed study is necessary to examine the 24-h diurnal variation of plasma phenylalanine and tyrosine in HT1. It is possible that phenylalanine concentrations may be very low for a substantive time over 24 h and the potential impact that this may have on cognitive development and growth in children is unknown.


Asunto(s)
Fenilalanina/sangre , Tirosina/sangre , Tirosinemias/sangre , Niño , Preescolar , Ritmo Circadiano , Proteínas en la Dieta/administración & dosificación , Proteínas en la Dieta/sangre , Femenino , Humanos , Masculino , Fenilalanina/administración & dosificación , Guías de Práctica Clínica como Asunto , Estudios Retrospectivos , Tirosina/administración & dosificación , Tirosinemias/dietoterapia
14.
J Hum Nutr Diet ; 25(6): 514-9, 2012 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-22845646

RESUMEN

BACKGROUND: In glutaric aciduria type 1 (GA1), dietary treatment with emergency management (EM) is essential to prevent encephalopathic crisis (EC). In the present study, dietary practices were examined in a single UK centre without access to newborn screening. METHODS: Twenty GA1 patients (11 males, median age: 10.2 years, range 2.2-24.1 years) were evaluated. Nine presented without EC (median diagnosis age: 1.1 years, range 4 days to 8 years) and 11 with EC (median diagnosis age 10 months, range 6 months to 1.7 years). Dietary treatment, neurological outcome, anthropometry and biochemical/haematological markers were assessed. RESULTS: Diet treatment varied according to age of diagnosis and symptom severity. Four of six pre-encephalopathic children diagnosed before 2 years of age were treated with carnitine, protein restriction (medium l.2 g kg day(-1)) and lysine-free/low tryptophan protein substitute (PS) (medium dose: 1.6 g kg day(-1)). EM consisted of natural protein cessation and glucose polymer with PS delivered via an enteral feeding tube. Older children (>3 years) without EC were given carnitine and protein restriction, and seven of nine EC patients had PS via an enteral feeding tube. Clinical deterioration occurred in two patients without EC; one taking PS and protein restriction (with a second untreatable pathology) and one after protein restriction only. In patients presenting with EC, four died and one had some improvement in movement, with the rest remaining stable but with severe disability. Patients taking PS had better nutritional markers [serum vitamin B(12) (P < 0.001), albumin (P < 0.001), haemoglobin (P < 0.001) and essential plasma amino acids]. CONCLUSIONS: Early diagnosis of GA1 before EC is essential because PS and protein restriction with meticulous EM prevents EC. PS also improves nutritional status irrespective of clinical condition.


Asunto(s)
Errores Innatos del Metabolismo de los Aminoácidos/dietoterapia , Encefalopatías Metabólicas/dietoterapia , Dieta con Restricción de Proteínas , Proteínas en la Dieta , Lisina/administración & dosificación , Pautas de la Práctica en Medicina , Triptófano/administración & dosificación , Adolescente , Adulto , Factores de Edad , Errores Innatos del Metabolismo de los Aminoácidos/complicaciones , Errores Innatos del Metabolismo de los Aminoácidos/diagnóstico , Errores Innatos del Metabolismo de los Aminoácidos/mortalidad , Errores Innatos del Metabolismo de los Aminoácidos/terapia , Biomarcadores/sangre , Encefalopatías/etiología , Encefalopatías/prevención & control , Encefalopatías Metabólicas/complicaciones , Encefalopatías Metabólicas/diagnóstico , Encefalopatías Metabólicas/mortalidad , Encefalopatías Metabólicas/terapia , Carnitina/uso terapéutico , Niño , Preescolar , Proteínas en la Dieta/efectos adversos , Proteínas en la Dieta/uso terapéutico , Dietética/métodos , Personas con Discapacidad , Diagnóstico Precoz , Nutrición Enteral , Femenino , Glucosa/uso terapéutico , Glutaril-CoA Deshidrogenasa/deficiencia , Humanos , Lisina/efectos adversos , Masculino , Índice de Severidad de la Enfermedad , Triptófano/efectos adversos , Reino Unido/epidemiología , Adulto Joven
15.
B-ENT ; 8(3): 173-8, 2012.
Artículo en Inglés | MEDLINE | ID: mdl-23113379

RESUMEN

OBJECTIVES: Sensorineural hearing loss is caused by problems in the inner ear, vestibulocochlear nerve, or brain central processing centers. This study aimed to analyze the patient-reported etiology, clinical aspects, and hearing evolution of patients with profound sensorineural hearing loss (PSNHL). STUDY DESIGN: Retrospective. METHODS: A total of 310 adult patients diagnosed with PSNHL in one or both ears between January 2002 and January 2008 were studied at a secondary center. Most subjects were military-aged males who were diagnosed with PSNHL during routine examinations prior to recruitment. A pure-tone audiometry test was performed in all patients. Auditory brainstem response was recorded in 142 (45.8%) patients. RESULTS: A total of 310 adult patients (276 males [89%] and 34 females [11%]) with a mean age of 23.1 (range 20-81) years comprising 486 ears consisting of 176 (56.8%) bilateral and 134 (43.2%) unilateral PSNHL cases were evaluated. Etiology was based on patient self reporting. The disease was congenital in 93 (30%) patients and acquired in 217 (70%). Etiology was unknown in 35 (11.3%) patients. Acquired hearing losses were rapid in 188 (86.6%) and progressive in 29 (13.4%) patients. Articulation was impaired (no understandable speech) in a total of 146 patients (47.1%), including all patients with congenital PSNHL. CONCLUSION: The cause of hearing loss is often understood from medical history. Taking measures for the most common causes (congenital hearing loss and childhood infectious diseases) may reduce occurrences of PSNHL cases. Auditory screening and beginning hearing rehabilitation as soon as possible in newborns is vital.


Asunto(s)
Pérdida Auditiva Sensorineural/diagnóstico , Audición , Adulto , Anciano , Anciano de 80 o más Años , Audiometría de Tonos Puros , Potenciales Evocados Auditivos del Tronco Encefálico , Femenino , Estudios de Seguimiento , Pérdida Auditiva Sensorineural/etiología , Pérdida Auditiva Sensorineural/fisiopatología , Humanos , Masculino , Persona de Mediana Edad , Estudios Retrospectivos , Factores de Riesgo , Índice de Severidad de la Enfermedad , Adulto Joven
16.
Bratisl Lek Listy ; 113(12): 728-31, 2012.
Artículo en Inglés | MEDLINE | ID: mdl-23173633

RESUMEN

OBJECTIVE: Pilonidal sinus disease (PSD) is a common chronic disease in young people, It is often associated with considerable discomfort and morbidity. BACKGROUND: We aimed to describe our new bilateral parallel elliptic fascio-cutaneous advancement flap technique in PSD treatment and we assessed the technique's results in 57 patients. METHOD: This procedure consists of a bilateral parallel elliptical excision, mobilization of the fascio-cutaneous flap from the median line of the wound, fixation of the base of the flap to the sacrococcygeal fascia by method of overlapping, and suturing its edge to the lateral side. Finally, we closed the wound without tension in accord with the anatomical plane. RESULT: The mean age of the patients was 25.3 ± 4 years. Complications such as infection, wound dehiscence, and seroma were detected in 2 (3.5 %), 2 (3.5 %), and 3 (5.2 %) patients, respectively. The mean durations of hospitalization and absence from work were 2.4 ± 3 and 12.6 ± 3 days, respectively. The mean length of defects after operations was 14.4 ± 1 cm and the mean width was 7.2 ± 1 cm). Follow up period averaged 21.4 ± 1.2 (range, 12 to 72) months. Recurrence occurred in one (1.7 %) patient. included in this study. We detected a mild-degree wound dehiscence in patients with wound infection (n=2, 3.5 %). CONCLUSION: Our novel technique provided the patients with minimum postoperative morbidity, short hospital stay and reduced absence from work. In addition, the technique has a satisfying aesthetic outcome and a decreased recurrence rate. Moreover, the flap could be prepared easily. In the light of our results, we suggest that our novel surgical technique seems to be a reasonable method in treatment of PSD (Fig. 2, Ref. 24).


Asunto(s)
Seno Pilonidal/cirugía , Colgajos Quirúrgicos , Adolescente , Adulto , Femenino , Humanos , Masculino , Complicaciones Posoperatorias , Adulto Joven
17.
Allergol Immunopathol (Madr) ; 39(4): 200-5, 2011.
Artículo en Inglés | MEDLINE | ID: mdl-21550164

RESUMEN

INTRODUCTION: This study was conducted to evaluate the oxidant/antioxidant balance (oxidative stress status) and plasma essential trace element levels in patients with bronchial asthma or allergic rhinitis. METHODS: A total of 94 individuals consisting of 19 allergic asthmatics; 17 non-allergic asthmatics; 22 patients with allergic rhinitis; and 36 healthy control people were enrolled into this study. Superoxide dismutase (CuZnSOD) and glutathione peroxidase (GSH-Px) activity as antioxidant defence mechanism parameters, along with malondialdehyde (MDA) as a marker of lipid peroxidation, were determined in erythrocytes of patient groups and controls. Plasma copper and zinc levels were also determined in all groups. RESULTS: CuZnSOD activity was significantly lower in all groups of patients (p<0.001 for allergic asthmatics, p=0.008 for allergic rhinitis patients, and p<0.001 for non-allergic asthmatics) when compared to those of controls. Erythrocyte GSH-Px enzyme activity was not different when compared to that of the control group. Similarly, the patient groups had no difference from those of the controls with respect to erythrocyte MDA levels. While plasma Cu levels in all asthmatic patients were not different from those of the controls, allergic rhinitis patients had significantly elevated (p<0.001) Cu levels compared to those of the controls. No statistically significant difference was established between patient groups and controls with respect to plasma zinc levels. CONCLUSION: While defective CuZnSOD activity observed in all patients groups was expected to cause an increase in lipid peroxidation indicated by high MDA levels in these patients groups, the fact that MDA levels were not different from those of controls in all patient groups indicates that other components of anti-oxidant defence system preserve their functions in these patients. On the other hand, statistically significant difference between all patients groups and controls with respect to trace elements was only observed in allergic rhinitis patients who had higher levels of Cu than those of controls.


Asunto(s)
Asma/diagnóstico , Eritrocitos/metabolismo , Glutatión Peroxidasa/metabolismo , Rinitis Alérgica Perenne/diagnóstico , Superóxido Dismutasa/metabolismo , Adolescente , Adulto , Asma/metabolismo , Asma/fisiopatología , Biomarcadores/metabolismo , Cobre/sangre , Eritrocitos/patología , Femenino , Humanos , Peroxidación de Lípido , Masculino , Malondialdehído/metabolismo , Persona de Mediana Edad , Estrés Oxidativo , Rinitis Alérgica Perenne/metabolismo , Rinitis Alérgica Perenne/fisiopatología , Oligoelementos/sangre , Zinc/sangre
18.
Ulus Travma Acil Cerrahi Derg ; 16(4): 287-92, 2010 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-20849042

RESUMEN

BACKGROUND: We aimed to investigate the protective potential of the thoracic cage on the parenchyma in response to blunt trauma from different directions in an animal model. METHODS: Female Wistar albino rats were divided into control, anterolateral, lateral and posterolateral trauma groups, with six rats in each group. A weight of 500 g was dropped from a height of 40 cm on the left hemithorax to produce an energy of 1.96 joules, using a specially designed platform. Respiratory rates and heart rates were noted before and at 0, 1, and 5 minutes after trauma. Twenty-four hours later, the left lungs were excised for wet lung weight measurement, histological examinations and tissue malondialdehyde determination. RESULTS: Severe pulmonary contusion was observed in all trauma groups according to histological parameters. Malondialdehyde was increased in both the lateral and posterolateral groups. Wet lung weight was increased only in the posterolateral trauma group when compared to controls. Histologically, macrophages were increased and mononuclear cell infiltration was significant in the posterolateral trauma group. There were no significant changes in physiological parameters in the groups. CONCLUSION: Lung parenchyma seems to be badly affected after trauma to the posterolateral thoracic wall. Different thoracic regions may respond differently to the same traumatic stress, and this may be related to the biomechanical properties of the thoracic cage.


Asunto(s)
Traumatismos Torácicos/patología , Pared Torácica/patología , Tórax/patología , Accidentes por Caídas , Animales , Bronquiolos/patología , Femenino , Frecuencia Cardíaca , Pulmón/anatomía & histología , Pulmón/patología , Ratas , Ratas Wistar , Fenómenos Fisiológicos Respiratorios , Traumatismos Torácicos/fisiopatología , Heridas y Lesiones/patología , Heridas y Lesiones/fisiopatología
19.
J Hum Nutr Diet ; 22(5): 422-7, 2009 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-19743980

RESUMEN

BACKGROUND: In phenylketonuria (PKU), protein substitute is an essential part of dietary treatment. Short-term studies have demonstrated that liquid protein substitutes (LPS) are efficacious, and improve compliance in teenagers and adults with PKU, although there are no data available to demonstrate that their effectiveness is sustained over time. The present retrospective study aimed to evaluate the long-term efficacy of ready-to-drink protein substitute in a group of people with PKU. METHODS: Thirty-four patients (17 females and 17 males, median age 14.9 years, range 7.2-53.8 years) with PKU on dietary management were recruited from Birmingham Children's Hospital. All patients who were taking a LPS for a median of 2.4 years (range 6 months to 4.1 years), had their plasma phenylalanine concentrations, anthropometric and nutritional biochemical markers reviewed, both before and when taking the LPS. RESULTS: There was a significant improvement in median plasma phenylalanine (P < 0.05), vitamin B(12) (P < 0.01), calcium (P < 0.05) and albumin (P < 0.05) concentrations in subjects (n = 13) aged >18 years when taking the LPS. In the children aged 7-18 years (n = 21), median plasma phenylalanine concentrations were maintained on LPS. Their plasma selenium concentrations (P < 0.05) deteriorated, but calcium (P < 0.05), albumin (P < 0.01), haemoglobin (P < 0.01) and haematocrit (P < 0.01) significantly improved. CONCLUSIONS: This retrospective review suggested that, in adult patients, the long-term use of LPS is associated with better compliance by lowering blood phenylalanine and improving nutritional biochemical markers.


Asunto(s)
Proteínas en la Dieta/administración & dosificación , Alimentos Formulados , Fenilalanina/sangre , Fenilcetonurias/dietoterapia , Adolescente , Adulto , Biomarcadores/sangre , Calcio/sangre , Niño , Femenino , Alimentos Formulados/normas , Hematócrito , Hemoglobinas/metabolismo , Humanos , Masculino , Persona de Mediana Edad , Fenilcetonurias/sangre , Estudios Retrospectivos , Selenio/sangre , Albúmina Sérica , Resultado del Tratamiento , Vitamina B 12/sangre , Adulto Joven
20.
Eur Surg Res ; 43(2): 211-8, 2009.
Artículo en Inglés | MEDLINE | ID: mdl-19556797

RESUMEN

BACKGROUND: The aim of this study was to investigate the role of nitric oxide in mesenteric ischemia, organ injury and survival in zymosan-induced multiple organ dysfunction syndrome (MODS) by using the nonselective nitric oxide synthase inhibitor L-N(G)-nitroarginine (L-NNA). METHODS: Swiss albino mice (20-40 g) were used in the study. The animals were randomly divided into four groups. The first group was treated intraperitoneally with saline and served as the sham group for L-NNA. The second group was treated with zymosan (500 mg/kg). The mice in the third and fourth group received L-NNA (20 mg/kg), 1 and 6 h after saline or zymosan administration. Six hours after the administration of zymosan, animals were used for mesenteric arterial blood flow (MABF) measurements and then sacrificed for biochemical and histopathological analyses at the 18th hour. RESULTS: In zymosan-treated animals, MABF was significantly lower than that of solvent saline-treated controls (controls: 4.7 +/- 0.8 ml.min(-1); zymosan: 1.7 +/- 0.7 ml.min(-1), p < 0.05). L-NNA did not prevent zymosan-induced MABF decrease (controls: 4.5 +/- 0.8 ml.min(-1); zymosan: 2.5 +/- 1.4 ml.min(-1), p <0.05). Also treatment with L-NNA has no beneficial effect on survival and organ injury in zymosan-induced MODS. CONCLUSION: In this study, inhibition of both inducible and constitutive nitric oxide synthase by L-NNA did not abolish the harmful effects of zymosan. L-NNA remains an agent without any therapeutic potential in this acute experimental model of MODS.


Asunto(s)
Insuficiencia Multiorgánica/tratamiento farmacológico , Nitroarginina/farmacología , Animales , Modelos Animales de Enfermedad , Inhibidores Enzimáticos/farmacología , Riñón/efectos de los fármacos , Riñón/fisiopatología , Masculino , Ratones , Insuficiencia Multiorgánica/inducido químicamente , Insuficiencia Multiorgánica/patología , Insuficiencia Multiorgánica/fisiopatología , Óxido Nítrico/fisiología , Óxido Nítrico Sintasa/antagonistas & inhibidores , Páncreas/efectos de los fármacos , Páncreas/fisiopatología , Circulación Esplácnica/efectos de los fármacos , Zimosan/toxicidad
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