Mucopolysaccharidoses (MPS) are a group of lysosomal storage disorders caused by deficiencies of lysosomal enzymes catalyzing degradation of glycosaminoglycans (GAGs). Previously, we reported a secondary plasma coenzyme Q 10 (CoQ) deficiency in MPS patients. For this study, nine MPS patients were recruited in the Hospital Sant Joan de Déu (HSJD, Barcelona) and two patients in the Neurometabolic Unit, National Hospital (NMU, London), to explore the nutritional status of MPS type III patients by analyzing several vitamins and micronutrients in blood and in cerebrospinal fluid. Plasma CoQ and plasma and cerebrospinal fluid pyridoxal phosphate (PLP) content were analyzed by high-pressure liquid chromatography (HPLC) with electrochemical and fluorescence detection, respectively. We found that most MPS-III patients disclosed low plasma pyridoxal phosphate (PLP) values (seven out of nine) and also low plasma CoQ concentrations (eight out of nine). We observed significantly lower median values of PLP, tocopherol, and CoQ (Mann-Whitney U test, p ¼ 0.006, p ¼ 0.004, and p ¼ 0.001, respectively) in MPS patients when compared with agematched controls. Chi-square test showed a significant association between the fact of having low plasma PLP and CoQ values in the whole cohort of patients. Cerebrospinal fluid PLP values were clearly deficient in the two patients studied. In conclusion, we report a combined CoQ and PLP deficiency in MPS-III patients. These observations could be related to the complexity of the physiopathology of the disease. If our results are confirmed in larger series of patients, CoQ and PLP therapy could be trialed as coadjuvant therapy with the current MPS treatments.
The most widely used method for the biochemical screening of oligosaccharidoses is the analysis of the urinary oligosaccharide pattern by thin-layer chromatography on silica gel plates. However, this method is not always sensitive enough, and it is extremely time-consuming and laborious. In this work, the analysis of the urine oligosaccharide pattern was standardized for the first time by using capillary electrophoresis with laser-induced fluorescence (CE-LIF) detection (Beckman P/ACE MDQ) with a 488-nm argon ion laser module. All of the analyses were conducted using the Carbohydrate Labeling and Analysis Kit (Beckman-Coulter), which derivatizes samples with 8-aminopyrene-1,3,6-trisulfonate. Urine samples from 40 control subjects (age range, 1 week to 16 years) and from ten patients diagnosed with eight different lysosomal diseases (six of them included in the Educational Oligosaccharide Kit from ERNDIM EQA schemes) were analyzed. Two oligosaccharide excretion patterns were established in our control population according to age (younger or older than 1 year of age). Abnormal peaks with slower migration times than the tetrasaccharide position were observed for fucosidosis, α-mannosidosis, GM1 gangliosidosis, GM2 gangliosidosis variant 0, Pompe disease, and glycogen storage disease type 3. In conclusion, the first CE-LIF method to screen for oligosaccharidoses and related diseases, which also present oligosacchariduria, has been standardized. In all of the cases, the urine oligosaccharide analysis was strongly informative and showed abnormal patterns that were not present in any of the urine samples from the control subjects. Only urine from patients with aspartylglucosaminuria and Schindler disease displayed normal results.
BACKGROUND: Hemorrhoidal disease in women during pregnancy is common in clinical practice. However, prospective data on its real prevalence and women’s demographics are scarce. OBJECTIVE: The aim of this study was to determine the prevalence of hemorrhoidal disease during pregnancy and to assess its impact on quality of life. In addition, this study aimed to identify the relationship between patients’ characteristics, bowel habits, hormonal changes, and the presence of symptomatic hemorrhoids. DESIGN: This is a prospective longitudinal cohort study. SETTING: This study was conducted in the Obstetrics Department for pregnancy follow-up. PATIENTS: The patients evaluated were a cohort of pregnant women. INTERVENTION: The study was designed to follow a homogeneous cohort of women for 15 months. Visits took place in the first and third trimesters of pregnancy, and 3 and 6 months after delivery. Women’s demographics (age, medical history, bowel habit, Bristol stool scale) and serum determination of pregnancy-related hormones (estrogen, progesterone, and relaxin) were determined. MAIN OUTCOME MEASURES: The primary outcome was the development of hemorrhoidal disease. RESULTS: Overall, 109 women (mean age, 31.2 ± 5.4 years) were included in the study. The prevalence of symptoms and physical findings of hemorrhoidal disease was present in 11% in the first trimester, 23% in the third trimester, 36.2% at 1 month after delivery, and 16.9% at 3 months after delivery. A medical history of hemorrhoidal disease was significantly associated with the diagnosis of hemorrhoids in the first trimester (p < 0.0001) and third trimester (p = 0.005). Symptoms of constipation were associated with this clinical disorder in the first trimester (p = 0.011) and the third trimester of pregnancy (p = 0.022). No association was found between hormonal changes and the development of hemorrhoidal disease. LIMITATIONS: A larger sample would provide more information. CONCLUSIONS: The prevalence of women with hemorrhoidal disease increases during pregnancy and after delivery. A history of hemorrhoidal disease and constipation is significantly associated with the diagnosis of symptomatic hemorrhoidal disease. See Video Abstract at http://links.lww.com/DCR/B504. INFLUENCIA DEL HÁBITO INTESTINAL Y LOS CAMBIOS HORMONALES EN EL DESARROLLO DE LA ENFERMEDAD HEMORROIDAL DURANTE EL EMBARAZO Y EL PERÍODO POSTERIOR AL PARTO: UN ESTUDIO DE COHORTE PROSPECTIVO ANTECEDENTES: La enfermedad hemorroidal en mujeres durante el embarazo es común en la práctica clínica. Sin embargo, hay escasos datos prospectivos sobre su prevalencia real y la demografía de las mujeres. OBJETIVO: El objetivo fue determinar la prevalencia de enfermedad hemorroidal durante el embarazo y evaluar su impacto en la calidad de vida. Además, identificar la relación entre las características de los pacientes, los hábitos intestinales, los cambios hormonales y la presencia de hemorroides sintomáticas. DISEÑO: Estudio prospectivo de cohorte longitudinal. AJUSTE: Este estudio se realizó en el Departamento de Obstetricia para el seguimiento del embarazo. PACIENTES: Una cohorte de mujeres embarazadas. INTERVENCIÓN: El estudio se diseñó para realizar un seguimiento de una cohorte homogénea de mujeres durante 15 meses. Las visitas se realizaron en el primer y tercer trimestre del embarazo, y a los 3 y 6 meses después del parto. Se determinaron los datos demográficos de las mujeres (edad, antecedentes médicos, hábito intestinal, escala de heces de Bristol) y la determinación sérica de hormonas relacionadas con el embarazo (estrógeno, progesterona y relaxina). PRINCIPALES MEDIDAS DE RESULTADO: El resultado principal fue el desarrollo de enfermedad hemorroidal. RESULTADOS: Se incluyó en el estudio a 109 mujeres (edad media, 31,2 ± 5,4 años). La prevalencia de síntomas y hallazgos físicos de enfermedad hemorroidal estuvo presente en 11% en el primer trimestre, 23% en el tercer trimestre, 36,2% 1 mes después del parto y 16,9% 3 meses después del parto. Un historial médico previo de enfermedad hemorroidal se asoció significativamente con el diagnóstico de hemorroides en el primer trimestre (p <0,0001) y tercer trimestre (p = 0,005). Los síntomas de estreñimiento se asociaron con este trastorno clínico en el primer trimestre (p = 0,011) y el tercer trimestre del embarazo (p = 0,022), respectivamente. No se encontró asociación entre los cambios hormonales y el desarrollo de enfermedad hemorroidal. LIMITACIONES: Una muestra más grande proporcionaría más información. CONCLUSIONES: La prevalencia de mujeres con enfermedad hemorroidal aumentó durante el embarazo y el posparto. El antecedente de enfermedad hemorroidal y estreñimiento se asociaron significativamente con el diagnóstico de enfermedad hemorroidal sintomática. Consulte Video Resumen en http://links.lww.com/DCR/B504.
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