Intervention effect of Qufeng Gutong Cataplasm on myofascial pain syndrome in rats and its mechanism / 中国中药杂志

This paper aims to investigate the intervention effect of Qufeng Gutong Cataplasm(QFGT) on myofascial pain syndrome(MPS) in rats and to preliminarily explain its mechanism from the perspective of improving muscle inflammation and pain. Male SD rats were divided into 6 groups, namely normal group, model group, positive control drug(Huoxue Zhitong Ointment, HXZT) group, and low, medium, and high-dose QFGT groups(75, 150, and 300 mg·d~(-1)). The rat model of MPS was established by striking combined with centrifugation for 8 weeks, during which QFGT and HXZT were used for corresponding intervention. Standard VonFrey fiber was used to evaluate the mechanical pain threshold, and acetone was used to detect the cold pain threshold. The electrophysiological activity of muscle at trigger point was detected, and the electromuscular analysis of trigger point was performed. CatWalk gait analyzer was used to detect pain-induced gait adaptation changes. The hematoxylin-eosin(HE) staining was used to observe the pathological changes in muscle and skin tissues at the trigger point of rats. Immunohistochemistry was used to detect the expression of capsaicin receptor transient receptor potential vanilloid 1(TRPV1) in muscle tissues and interleukin(IL)-33 in skin tissues at the trigger point. The protein expression levels of TRPV1, protein kinase B(Akt), phosphorylated protein kinase B(p-Akt), IL-1β, and tumor necrosis factor-α(TNF-α) in muscle tissues at the trigger point were detected by Western blot. The results showed that as compared with the model group, the mechanical pain threshold and cold pain threshold of rats in other groups were increased after treatment with QFGT. The spontaneous electromyography(EMG) activity was observed in the model group, but QFGT alleviated the EMG activity in a dose-dependent manner. Gait analysis showed that standing duration, average intensity, swing speed, maximum contact point, maximum contact area, paw print length, paw print width, and paw print area were significantly improved in all QFGT groups. Pathological results showed that the disorder of muscle arrangement at the trigger point was decreased, muscle fiber adhesion and atrophy were reduced, and inflammatory cell infiltration was alleviated after treatment with QFGT. In addition, QFGT and HXZT both inhibited the protein expression of TRPV1, PI3K, Akt, p-Akt, IL-1β, and TNF-α in the muscle tissues of rats with MPS. However, there was no significant difference in the pathological structure and expression of IL-33 in the treated skin as compared with the normal group. The related results have proved that QFGT can inhibit the release of inflammatory factors by inhibiting the TRPV1/PI3K/Akt signaling pathway in the muscle trigger point of rats with MPS and finally attenuate the atrophy and adhesion of local muscles and inflammatory infiltration, thereby relieving the muscle pain of rats with MPS, and local administration has no skin irritation.

Application of MALDI-TOF Mass Spectrometry for Non-invasive Diagnostics of Mucopolysaccharidosis IIIA

Abstract Mucopolysaccharidosis IIIA (MPS IIIA) is a lysosomal storage disorder (LSD) caused by deficiency of lysosomal N-sulphoglucosamine sulphohydrolase, which is one of four enzymes involved in heparan sulfate degradation. Traditional methods used for MPS IIIA diagnostics usually constitute of selective screening, based on the analysis of urinary glycosaminoglycans, further enzymatic assays in leukocytes, and mutation analysis. Nowadays, some LSDs, including mucopolysaccharidoses, can be precisely diagnosed by mass spectrometry-based techniques. Up to this date, there are no comprehensive studies of MPS IIIA diagnostics by MALDI-TOF analysis of free oligosaccharides in urine published. In the presented work, MALDI-TOF/TOF analysis of permethylated oligosaccharides was performed to obtain the set of glyco-biomarkers that together form the specific fingerprint of this disease. Early and accurate diagnostics of MPS IIIA is crucial to stabilize the progressive cellular damage and improve the overall well-being of patients.

Exploration and Assessment on the Agronomic Requirement of Taverniera abyssinica A. Rich: A Critically Endangered Medicinal Plant of Ethiopia

We determined the distribution and abundance of Taverniera abyssinica A. Rich in the Shewa floristic region, Ethiopia. We also carried out a mesh-house experiment to know whether T. abyssinica is able to survive and grow in any soil. From the nine potential locations we made exploration, T. abyssinca populations were found only in the two, Lemen and Mojo. The abundance of mature individuals was estimated to be more than 600/hectare. The one-way ANOVA results indicated that soil does not have a significant (p>0.05) effect on seedlings survival rate. However, it was found to have significant (p<0.05) effects on seedlings growth, root nodulation, and root arbuscular mycorrhizal fungi colonization. Seedlings grown on the soil collected from Lemen and Mojo produced significantly (p<0.05) more number of leaves and grew better than those grown on Addis Ababa (where the species was never reported to grow) soil. The root fresh weight of seedlings grown on Addis Ababa soil was found to be significantly (p<0.05) and 38.89% and 54.17% lower than the root fresh weight of seedlings grown on Lemen and Mojo soils respectively. We report that T. abyssinica is N-fixer and arbuscular mycorrhizal. Seedlings grown on the Addis Ababa soil were not colonized by arbuscular mycorrhizal fungi while those grown on Lemen and Mojo soils were. Although the estimated abundance of mature T. abyssinica individuals was high, there is continued exploitation of the species and habitat loss is imminent. Therefore, integrated conservation program by way of ex situ conservation, in situ conservation, and cultivation should be implemented. Taverniera abyssinica could be cultivated in areas with leptosol and degraded vertisol soils with slightly acidic to basic pH. Arbuscular mycorrhizal fungi could play key role in future conservation and cultivation efforts of the species.

The effects of active range of motion with overpressure on the fascia displacement of the upper trapezius muscle among individuals with and without myofascial pain syndrome: A retrospective case-control study protocol

BACKGROUND@#Myofascial Pain Syndrome (MPS) is a persistent pain on the shoulders and cervical spine related to limitation of motion (LOM), muscle weakness, and loss of function. It is a cumulative, repetitive injury causing disability among the middle-aged working population. This study will determine the differences in upper trapezius' superficial and deep fascia displacements among participants with and without MPS based on the effects of cervical active range of motion (AROM).@*METHODS@#This is a retrospective records review study with two interlinked parts. In the reliability study, the Tracker will determine the physiotherapy interns' intertester and intratester reliability in assessing the musculoskeletal ultrasound videos. Using MedCalc Software and the Bland-Altman plot, the single measures ICC will determine the reliability. In determining clinically acceptable use of the Tracker, a <0.40 cut-off reliability will be used. In the case-control study, physiotherapy interns will assess 2,904 musculoskeletal ultrasound videos. The difference between the superficial and deep fascia displacements will be determined using paired t-test and the mean differences using an independent t-test. A significant difference between groups will be determined using a p-value of <0.05.@*EXPECTED RESULTS@#This study expects that cervical AROM with overpressure will displace the superficial and deep fascia of the upper trapezius, particularly among patients with MPS. Proving the correlation between LOM and altered fascia displacement will help rehabilitation professionals create new manual therapy techniques and emphasize the use of existing fascia-related treatments.

The effects of active range of motion with overpressure on the fascia displacement of the upper trapezius muscle among individuals with and without myofascial pain syndrome: A retrospective case-control study protocol

BACKGROUND@#Myofascial Pain Syndrome (MPS) is a persistent pain on the shoulders and cervical spine related to limitation of motion (LOM), muscle weakness, and loss of function. It is a cumulative, repetitive injury causing disability among the middle-aged working population. This study will determine the differences in upper trapezius' superficial and deep fascia displacements among participants with and without MPS based on the effects of cervical active range of motion (AROM).@*METHODS@#This is a retrospective records review study with two interlinked parts. In the reliability study, the Tracker will determine the physiotherapy interns' intertester and intratester reliability in assessing the musculoskeletal ultrasound videos. Using MedCalc Software and the Bland-Altman plot, the single measures ICC will determine the reliability. In determining clinically acceptable use of the Tracker, a <0.40 cut-off reliability will be used. In the case-control study, physiotherapy interns will assess 2,904 musculoskeletal ultrasound videos. The difference between the superficial and deep fascia displacements will be determined using paired t-test and the mean differences using an independent t-test. A significant difference between groups will be determined using a p-value of <0.05.@*RESULTS@#This study expects that cervical AROM with overpressure will displace the superficial and deep fascia of the upper trapezius, particularly among patients with MPS. Proving the correlation between LOM and altered fascia displacement will help rehabilitation professionals create new manual therapy techniques and emphasize the use of existing fascia-related treatments.

Effect of Jianpi Huogu Formula on function damage of vascular endothelial cells induced by glucocorticoid / 中国中药杂志

This study aimed to observe the intervention effect of Jianpi Huogu Formula(JPHGF) on the functional damage of vascular endothelial cells caused by glucocorticoid, and explore its action mechanism from the PI3 K/Akt and mitogen activated protein kinase(MAPK) signaling pathways. The extracted thoracic aorta ring of normal SD rats were intervened first with vascularendothelial growth factor(VEGF, 20 μg·L-1) and/or sodium succinate(MPS, 0. 04 g·L-1) in vitro and then with JPHGF(8, 16, and 32 μg·L-1) for five mcontinuous ethylpdays, rednisolofollowed nebythe statistics of the number, length, and area of microvessels budding fromvascular rings. In addition, the human umbilical vein endothelial cells(HUVECs) induced by VEGF(20 μg·L-1) were added with MPS(0. 04 g·L-1) and then with JPHGF(8, 16, and 32 μg·L-1) for observing the migration, invasion, and luminal formation abilities of HUVECs in the migration, invasion and luminal formation experiments. The protein expression levels of PI3 K, p-Akt, p-JN K, and p-ERK in HUVECs were assayed by Western blot. The results showed that JPHGF dose-dependently improved the num-ber,length, and area of microvessels in MPS-induced rat thoracic aortic ring, reversed the migration, invasion and lumen formation abiliti es of HUVECs reduced by MPS, and up-regulated the protein expression levels of PI3 K, p-Akt, and p-JNK in HUVECs. All thesehave suggested that JPHGF exerts the protective effect against hormone-induced damage to the angiogenesis of vascular endothelial cells by activating the PI3 K/Akt and MAPK signaling pathways, which has provided reference for exploring the mechanism of JPHGF in treating s teroid-induced avascular necrosis of femoral head(SANFH) and also the experimental evidence for enriching the scientific connotationof spleen-invigorating and blood-activating therapy.

Protective Effect of Tongluo Shenggu Capsule on Function Damage of Human Umbilical Vein Endothelial Cells Induced by Glucocorticoid / 中国实验方剂学杂志

Objective:To observe the effect of Tongluo Shenggu capsule （TLSGC） on glucocorticoid-induced vascular endothelial cell functional damage， and to preliminally explore the mechanism of action through MEK-ERK signaling pathway. Method:The blood vessel of aorta rings of normal SD rats were induced <italic>in vitro</italic> intervention with methylprednisolone sodium succinate （MPS， 0.04 g·L^-1） and/or vascular endothelial growth factor （VEGF， 20 μg·L^-1）， and were treated with TLSGC（12.5， 25， 50 μg·L^-1） continuously for 5 days to observe the number， length and area of microvascular ring buds．In addition， human umbilical vein endothelial cells （HUVEC） induced by VEGF（20 μg·L^-1） were added into MPS（0.04 g·L^-1） and TLSGC （12.5， 25， 50 μg·L^-1） were added. Then， Transwell migration， Transwell invasion and lumen formation experiments were used to detect the migration， invasion and lumen formation ability of HUVEC， respectively. The content of nitric oxide（NO） in the cell supernatant was detected by nitrate reductase method， the content of endothelin 1（ET-1） in the cell supernatant was detected by dry powder method. Moreover， the protein contents of vascular endothelial growth factor receptor 2 （VEGFR2）， extracellular signal-regulated kinase （ERK）， phospho-extracellular signal-regulated kinase （p-ERK）， mitogen extracellular kinase1（MEK） and phosphorylated mitogen extracellular kinase1（p-MEK） in the cells were determined by Western blot. Result:Compared with the normal group， MPS could significantly inhibit the number， length and area of VEGF-induced rat thoracic aortic ring microvessels， HUVEC cell migration， invasion and lumen formation ability. It could reduce NO content and increase ET-1 content. MPS could also significantly reduce the protein content of VEGF-induced VEGFR2， p-MEK and p-ERK in HUVEC（<italic>P</italic><0.05，<italic>P</italic><0.01）. Compared with the model group， TLSGC could dose-dependently increase the number， length and area of MPS-induced abnormally reduced rat thoracic aortic ring microvessels， promote MPS-induced abnormally decreased HUVEC cell migration， invasion and lumen formation ability. It could increase the protein contents of NO， VEGFR2， p-MEK and p-ERK in HUVEC， and reduce abnormally increased ET-1 content（<italic>P</italic><0.05<italic>，P</italic><0.01）. Conclusion:TLSGC has a protective effect on the damage of angiogenesis and secretion of vascular endothelial cells induced by glucocorticoid， and the mechanism may be related to the activation of MEK/ERK signaling pathway.

Evaluación neuropsicológica de un adulto colombiano diagnosticado con Síndrome de Morquio B / Neuropsychological assessment of a Colombian adult diagnosed with Morquio B Syndrome

Resumen El síndrome de Morquio B es una enfermedad rara y de baja prevalencia, por lo cual poco se ha estudiado sobre el funcionamiento neuropsicológico y estado cognitivo de quienes lo padecen. Este estudio de caso presenta los resultados del funcionamiento en atención, memoria, lenguaje, gnosias, praxias y funciones ejecutivas de un adulto colombiano diagnosticado con este síndrome. Se encontró que el paciente puede adquirir nuevo conocimiento; muestra memoria visoespacial y de trabajo verbal conservadas; repite, lee y escribe información sencilla que es conocida para él; sigue órdenes simples a partir de comandos verbales; muestra habilidades viso perceptuales y grafomotoras; tiene un desarrollo normal de pensamiento abstracto y asociativo, y es capaz de planear y solucionar problemas. Sin embargo, presenta dificultades en atención visual sostenida, atención audio-verbal, velocidad de procesamiento, lenguaje comprensivo, repetición y escritura al dictado de frases completas, flexibilidad cognitiva, y fluidez verbal semántica y fonológica. Se discute como factores más relevantes del funcionamiento cognitivo del paciente la relación entre el síndrome de Morquio B y la gangliosidosis GM1, y la falta de entrenamiento en el manejo de información de alta complejidad, dada su condición de desescolarización.

Abstract Since Morquio B syndrome is a low-prevalence rare disease, scarce evidence about neuropsychological functioning and cognitive status in diagnosed people is known. This case study shows the results of functioning in attention, memory, language, gnosias, praxias, and executive functions in a Colombian man diagnosed with this syndrome. It was found that the patient is capable of acquiring new information and exhibits preserved visuospatial and verbal working memory; he is also able to repeat, read and write simple information as long as it is familiar to him, and is capable of following simple verbal instructions with no difficulty; moreover, he displays preserved visuospatial and graphomotor abilities, has a normal development of abstract and associative thinking, and is able to plan and solve problems. Nonetheless, he exhibits difficulties in audio-verbal and sustained visual attention, as well as in processing speed, comprehensive language, repetition and writing of complete phrases, cognitive flexibility, and semantic and phonological verbal fluency. It is discussed the association between Morquio B syndrome and gangliosidosis GM1 as well as the lack of training in the management of highly complex information due to unschooling of this patient as the two most relevant factors of his cognitive functioning.

Perthes-Like Disease Masquerading Non-Classical MPS

Abstract Mucopolysaccharidoses (MPS) are inborn errors of metabolism caused by deficient lysosomal enzymes, leading to organomegaly, hip osteonecrosis, coarse facial features, bone deformities, joint stiffness, cardiac and pulmonary symptoms (MPS VI) or hypermobility (MPS IVA). Some patients may present with non-classical forms of the disease in which osteoarticular abnormalities are the initial symptoms of non-classical forms. As orthopedists and surgeons are the specialists most frequently consulted before the diagnosis, it is critical that MPS may be considered as a differential diagnosis for patients with bone dysplasia. Experts in Latin America reviewed medical records focusing on disease onset, first symptoms and the follow-up clinical and surgical outcomes of non-classical MPS VI and IVA patients. All patients displayed orthopedic issues, which worsened over time, followed by cardiac and ophthalmological abnormalities. Our findings enlighten the necessity of including non-classical MPS as possible diagnosis for patients who report osteoarticular abnormalities in absence of inflammation.

Recommendations for Assessment and Management of Health-Related Quality of Life in Patients with Mucopolysaccharidoses in Latin America

Abstract Mucopolysaccharidoses (MPS) constitute a heterogeneous group of rare genetic disorders caused by enzymatic deficiencies that lead to the accumulation of glycosaminoglycans (GAGs). Clinical observations suggest a health-related impairment in quality of life in patients with MPS. Professionals with extensive experience in the care of patients with inborn errors of metabolism, such as MPS, held a meeting in April 2017 to discuss and propose recommendations for the evaluation and management of quality of life in MPS patients in Latin America. In the light of this scenario, the present work summarizes the content of the discussions and presents the recommendations produced at the meeting. The panel had suggested the use of the following tools for the assessment of health-related quality of life (HRQoL): Children's Health Assessment Questionnaire (CHAQ) for children and patients unable to express their feelings, Health Assessments Questionnaire (HAQ) and EuroQol 5 Domains (EQ-5D) scales for adult patients. Based on the scores verified in these scales, the panel proposes interventions that aim reducing the impairment of the quality of life in patients with MPS disorders.

Pharmacokinetics study of mycophenolic acid in early renal transplant patients / 中国药学杂志

OBJECTIVE: To investigate the pharmacokinetic characteristics of enteric-coated sodium mycophenolate(EC-MPS) or mycophenolate mofetil (MMF) dispersible tablets after multiple oral doses in early renal transplant patients, providing references for the rational use of the study drugs in clinical practice. METHODS: Thirty-eight first-time renal transplant patients were selected and randomly divided into EC-MPS group (n=18) or MMF dispersible tablets group (n=19). The patients received EC-MPS (540 mg, q12h) or MMF dispersible tablets (750 mg, q12h), combined with tacrolimus and methylprednisolone to prevent acute rejection, respectively. Blood samples were collected at pre-dose, 0.5, 1, 1.5, 2, 3, 4, 6, 8, 10, 12 h after oral administration on the postoperative day 5. Enzyme multiplied immunoassay technique (EMIT) was employed to determine the plasma concentration of MPA. The main pharmacokinetic parameters of the two durgs were assessed. RESULTS: Pharmacokinetic parameters on the postoperative day 5 of EC-MPS and MMF dispersible tablet were as follows: AUC0-12 h were(43.62±16.20) and(42.02±14.40)mg•h•L-1(P>0.05);ρmax were (17.85±11.32) and (13.96±5.11) mg•L-1(P>0.05);tmax were (2.72±1.74) and(1.32±0.42)h(P0.05); ρ12were(1.84±2.09) and (1.81±1.76) mg•L-1(P>0.05); CL were (14.12±5.30) and (19.66±5.99) L•h-1(P<0.05). Most of the patients revealed a second small peak in the 4-12 h after taking MPA in the two study groups. CONCLUSION: There are large individual differences of pharmacokinetic between EC-MPS and MMF dispersible tablets in early renal transplant patients. It is necessary to carry out therapeutic drug monitoring of MPA to guide the adjustment of drug dosage.

Impact of Enzyme Replacement Therapy in a Patient Younger Than 2 Years Diagnosed With Maroteaux-Lamy Syndrome (MPS VI)

Abstract Introduction: Mucopolysaccharidosis type VI, also known as Maroteaux-Lamy syndrome (#OMIM 253200), is a rare autosomal recessive genetic disorder due to deficient activity of the enzyme N-acetylgalactosamine 4-sulfatase (arylsulfatase B) required for the breakdown of dermatan sulfate and chondroitin sulfate. Patient: Report of a female patient started on enzyme replacement therapy at 17 months of age. At the time of diagnosis (14 months), the patient presented mild corneal opacity and significant thoracolumbar kyphosis, but no visceral involvement or growth arrest. At 73 months of treatment, weight was normal, although the patient was in a low height percentile. The patient showed adequate neural development, with improvement in lumbar spine and joint involvement. Corneal compromise or valvular disease progression was not evident. Conclusion: Early and timely diagnosis and treatment with enzyme replacement therapy are essential, as the means to change the natural history of the disease, avoiding comorbidities and improving final prognosis.

Curative effect observation of Nvjin Tablet on treating menopausal syndrome / 中草药

Objective: To investigate the curative effect of Nvjin Tablet on treating menopausal perimenopausal syndrome (MPS). Methods: Patients (113 cases) with MPS in gynecology outpatient department of The Second People's Hospital of Fuxin City from 2014 to 2015 were enrolled in this study. The patients were divided into control (60 cases) and treatment (53 cases) groups. Result: The symptoms of perimenopausal syndrome were significantly improved in the treatment group. The menstrual disorder situation has been improved. And the serum progesterone, estradiol (E2), follicle-stimulating hormone (FSH) levels of patients have increased significantly after the treatment. The changing of above situations are not obvious for the patients in the control group. Conclusion: Nvjin Tablet has a significant effect in treating MPS.

ANÁLISIS COMPARATIVO DE MODELOS DE GESTIÓN DE TECNOLOGÍA BIOMÉDICA / COMPARATIVE ANALYSIS OF BIOMEDICAL TECHNOLOGY MANAGEMENT MODELS / A ANÁLISE COMPARATIVA DOS MODELOS DE GESTÃO DE TECNOLOGIA BIOMÉDICA

La gestión de tecnología en salud es un elemento clave para garantizar una atención segura y de calidad a los pacientes. Muchas instituciones han diseñado modelos de gestión orientados a cumplir ese objetivo. En este trabajo se realiza un análisis comparativo de los modelos propuestos por asociaciones como American College of Clinical Engineering (ACCE), Association for the Advancement of Medical Instrumentation (AAMI), Medicines and Healthcare Products Regulatory (MHRA) y una guía del Ministerio de la Protección Social de Colombia (MPS). Además de dos metodologías de evaluación de tecnología: una tesis de doctorado de la Universidad Federal de Santa Catarina (UFSC) y la propuesta del Centro Nacional de Excelencia Tecnológica en Salud (CENETEC). Posteriormente se identifican las ventajas y desventajas de cada uno de ellos. Los resultados del estudio indican que cada modelo tiene fortalezas que pueden ser aprovechadas en la construcción de un modelo consenso acorde con las necesidades de las Instituciones prestadoras de salud (IPS) del país y las condiciones de funcionamiento del sistema de salud colombiano.

The management of health technology is a key element to ensuring safe, quality patient care. Many institutions have designed management models focused on achieving this goal. This paper presents a comparative analysis of the models proposed by associations such as the American College of Clinical Engineering (ACCE), Association for the Advancement of Medical Instrumentation (AAMI), the Medicines and Healthcare Products Regulatory Agency (MHRA) and a guide done by the Ministry of Social Protection of Colombia (MPS). Two technology assessment methodologies were used: a doctoral thesis at the Federal University of Santa Catarina (UFSC) and the proposal made by the National Center for Health Technology Excellence (CENETEC). Subsequently the advantages and disadvantages of each are identified. The study results indicate that each model has strengths that can be exploited in building a consensus model in line with the needs of health institutions (IPS, in Colombia) in the country and the operating conditions of the Colombian health system.

A gestão de tecnologias em saúde é o elemento chave para garantir um atendimento com segurança e de qualidade ao paciente. Muitas instituições têm projetado modelos de gestão destinados a satisfazer esse objetivo. Neste trabalho se apresenta uma análise comparativa dos modelos propostos por associações como American College o Clinical Engineering (ACCE), Association for the Advancement of Medical Instrumentation (AAMI), Medidines and Healthcare Products Regulatory (MHRA) e uma orientação do Ministério da Proteção Social da Colômbia (MPS). Além de duas metodologias de avaliação de tecnologia: uma tese de doutorado na Universidade Federal de Santa Catarina (UFSC) e a proposta do Centro Nacional excelência de Tecnologia em saúde (CENETEC). Subsequentemente, se identificam as vantagens e desvantagens de cada uma delas. Os resultados do estudo indicam que cada modelo tem pontos fortes que podem ser aproveitada na construção de um modelo de consenso em linha com as necessidades das instituições de saúde (IPS) do país e as condições de funcionamento do sistema de saúde colombiano.

Lysosomal Storage Disorders in Indian Children with Neuroregression Attending a Genetic Center.

Objective: To study the etiology of neuroregression in children having deficiency of the lysosomal enzymes. Design: Review of medical records. Setting: Specialized Genetic Center. Participants: 432 children aged 3 mo-18 y having regression in a learned skill, selected from 1453 patients referred for diagnostic workup of various Lysosomal storage disorders (LSDs). Methods: Plasma chitotriosidase, quantitative and qualitative glycosaminoglycans, and mucolipidosis-II/II screening followed by confirmatory enzyme study using specific substrate was carried out; Niemann-Pick disease Type-C was studied by fillipin stain method on skin fibroblasts. Results: Total 309 children (71.5%) were diagnosed with different lysosomal storage disorders as the underlying cause of neuroregression. Plasma chitotriosidase was raised in 82 of 135; 64 (78%) of these had various LSDs. 69 out of 90 cases showed high excretion of glycoaminoglycans, and 67 (97.1%) of these were confirmed to have enzyme deficiency for various mucoplysaccharide disorders. While 3/90 children with positive I-cell screening had confirmed mucolipidosis-II/III disease. Among all, glycolipid storage disorders were the most common (50.2%) followed by mucopolysaccharidosis (MPS) (21.7%) and sulphatide degradation defect (17.5%). Neuronal ceroid lipofucinosis-1 & 2 (7.4%), mucolipidosis-II/III (1%), Sialic acid storage disorder (1%), Niemann-Pick disease type-C (1%) and Fucosidosis (0.3%) were observed with less frequency. Most common phenotypes in all subjects were cherry red spot (18.5%), hepatosplenomegaly (17.9%), coarse facies (15%), seizures (13.1%) and skeletal abnormalities (12.14%). Conclusions: Lysosomal storage disorders are considered to be one of the common causes in children with regression in learned skill, dysmorphic features and cherry red spot. Among these, glycolipid storage disorders are the most common, followed by mucopolysaccharidosis.

A Child With Advanced Mucopolysaccharidosis Presenting With Severe Behavioural Problems

Objective: Clinicians are less familiar with clinical presentation of rare disorder like mucopolysaccharidosis (MPS), especially as presentation is complex and varied with different subtypes of this disorder. This case report highlights severe behavioural problems and non-recognition of MPS by clinicians. Though behavioural problems, hyperactivity and aggression are common in children suffering from mental disability, they are also seen in rare metabolic disorders like MPS. Methods: We have reported a seven year old girl who presented with severe episodes of hyperactivity, poor social interaction, impaired understanding of speech and delay as well as regression in developmental milestones is presented along with the investigations and treatment given. Results: Initially, the child was thought to be suffering from intellectual subnormality and/or pervasive developmental disorder. However, radiological studies showed x-ray findings suggestive of MPS. Her developmental history, physical findings, hearing loss as noted on BERA further supported this diagnosis. Due to financial constraints of the family detailed investigations (enzyme assays) to know the exact type of MPS could not be done. Behavioural problems had to be managed with low dose clonazepam and carbamazepine. Conclusion: It is worth considering metabolic disorders as one of the important differential diagnosis in any child presenting with developmental problems, dysmorphic facies along with behavioural problems.

Morquio’s Syndrome: A Rare Case.

Morquio’s syndrome is an autosomal recessive disorder due to deficiency of N-acetylgalactosamine-6 sulfate. Presented here is the case of a 4-year-old girl with complaints of deformity of bilateral lower limbs since 6 months. Examination revealed widely spaced teeth, corneal opacity, pectus carinatum, bilateral genu valgum and flat feet. X-rays of femur showed minimal metaphyseal widening, widened carpal bones and pointing metacarpals and beaking of the thoracic and lumbar vertebrae. She was diagnosed to be suffering from Morquio’s syndrome. Mucopolysaccharidoses (MPS) are a rare group of metabolic disorders due to deficiency of enzymes responsible for degradation of glycosaminoglycans. Treatment is mainly symptomatic.

Pharmacokinetics study of enteric-coated mycophenolate sodium in the early period after renal trans¬plantation / 中国药学杂志

OBJECTIVE: To determine the steady state pharmacokinetics of mycophenolic acid (MPA), the active metabolite, after an oral administration of enteric-coated mycophenolate sodium (EC-MPS) in the renal transplant patients.

Presentación de un caso clínico de mucopolisacaridosis Tipo IV, síndrome de Morquio / Presentation of a clinical case of mucopolysaccharidosis type IV, Morquio syndrome

Se presenta el caso de un paciente de 16 años de edad, con el diagnostico de mucopolisacaridosis (MPS) tipo IV-A, con una breve revisión teórica del curso y progresión crónica de esta enfermedad multi-sistémica, que se manifiesta con amplia signo sintomatología, hallazgos de laboratorio y anomalías radiológicas. El objetivo es documentar el caso y difundir a la comunidad médica boliviana, la importancia de los errores innatos del metabolismo, consideradas enfermedades "raras", que a criterio nuestro, sufren un sub-diagnóstico debido a las pocas publicaciones científicas sobre el tema en el medio.

We report the case of a patient 16 years old with a diagnosis of mucopolysaccharidosis (MPS) type IV- A, with a brief theoretical review of chronic course and progression of this multisystem disease, which manifests with extensive signs symptoms, findings are presented, with laboratory and radiological reported abnormalities. The aim is to document the event and communicated to Bolivian medical community, the importance of inborn errors of metabolism, considered "rare" diseases, which in our opinion; suffer a sub- diagnosis because of the few Bolivian scientific publications on the topic.

Mucopolisacaridosis de tipo I Hurler: Informe de un caso / Mucopolysaccharidosis I, Hurler syndrome: A case report

La mucopolisacaridosis de tipo I (MPS I), es una enfermedad genética autosómica recesiva de origen lisosomal, caracterizada por la deficiencia de la enzima a-L-iduronidasa. La deficiencia en el catabolismo de los glucosaminoglucanos resulta en su acumulación en diferentes tejidos y órganos. La incidencia global de la MPS I es de 0,99-1,99/100 000 nacidos vivos. Existen tres presentaciones clínicas: Hurler (grave), Hurler-Scheie (moderada) y Scheie (leve). Presentamos el caso de un niño de 10 años de edad a quien se le diagnosticó MPS I, de variedad grave en el año 2006, mediante medición de la actividad enzimática de a-L-iduronidasa en leucocitos. Este caso es el único con diagnóstico confirmado y tratamiento enzimático hasta el momento, en el Perú. Presenta infecciones respiratorias recurrentes, hernia umbilical, opacidad corneal, rasgos toscos, macroglosia, hipoacusia, rigidez articular, estenosis de la válvula pulmonar leve-moderada, manos en garra, retardo mental y retraso del crecimiento. Recibe terapia de reemplazo enzimático desde el año 2008, mostrando mejoría de los síntomas viscerales, más no del daño neurológico.

Mucopolysaccharidosis I (MPS I) is a rare, recessively inherited, lysosomal storage disorder caused by deficiency on the enzyme a-L-iduronidase. This defect results in accumulation of heparan and dermatan sulfate in different tissues and organs due to a deficiency in the catabolism of glycosaminoglycans. The overall incidence of MPS I is 0.99-1.99/100.000 live births. There are three clinical presentations: Hurler (severe), Hurler Scheie (mild) and Scheie (mild). We report the case of a 10-years-old male patient diagnosed with Hurler syndrome, the severe presentation, 5 years ago by enzyme a-L-iduronidase activity measurement in leukocytes; with a history of recurrent respiratory infections, umbilical hernia, corneal opacity, coarse facial features, macroglossia, hearing loss, stiffness of joints, cardiac compromise, claw hands, mental retardation and stunted growth. After enzyme replacement therapy the patient has shown improvement of visceral symptoms, but the neurological damage continuous in progress.