scholarly journals Modeling Morquio A Syndrome: An Anthropometric Study of Body Characteristics and Stature

Diagnostics ◽  
2020 ◽  
Vol 10 (2) ◽  
pp. 116
Author(s):  
Agnieszka Różdżyńska-Świątkowska ◽  
Krzysztof Szklanny ◽  
Jolanta Marucha ◽  
Anna Tylki-Szymańska
Keyword(s):  
General Population ◽  
Body Height ◽  
Anthropometric Measurements ◽  
Lower Limbs ◽  
Lysosomal Storage ◽  
Mean Values ◽  
Morquio A ◽  
Mps Iva ◽  
Body Stature ◽  
Morquio A Syndrome

Background: Morquio A syndrome or mucopolysaccharidosis (MPS) IVA is an autosomal recessive, life-limiting lysosomal storage disease caused by deficient activity of the enzyme galactosamine-6-sulfatase. Common early symptoms such as abnormalities of body stature can facilitate timely diagnosis. This study aimed to create a pattern of face and body stature based on anthropometric measurements taken from a cohort of Polish patients with MPS IVA. Methods: Analysis of 11 somatometric and 14 craniofacial features was performed on 20 patients with MPS IVA, aged from 3 months to 26 years. The diagnosis of MPS IVA was confirmed by enzymatic and molecular analysis. Two-tailed t-tests were used to compare mean values for body length and weight at birth between the MPS IVA patients and the general population. To show the degree and direction of deviation z-scores were calculated and then used to construct a model of an average MPS IVA patient. Results: Mean values for body height and weight at birth were greater for boys than for the general population. The observed pattern of head and body shape indicated that dwarfism occurred with age as a result of the relatively short trunk and lower limbs. Skeletal abnormalities included a bell-shaped chest with the ratio of chest depth to chest width being significantly above the norm. The head and neck were relatively elongated, in comparison to body height, and tucked between narrow shoulders. The head had dolichocephalic shape, while the nose was short with wide nostrils. Conclusions: Multiple anthropometric measurements, including age ranges, allowed for the creation of a model that showed the most characteristic features of the MPS IVA phenotype.

scholarly journals Modelling Morquio A syndrome: an anthropometric study of body characteristics and stature

2020 ◽  
Author(s):  
Agnieszka Różdżyńska-Świątkowska ◽  
Krzysztof Szklanny ◽  
Jolanta Marucha ◽  
Anna Tylki-Szymańska
Keyword(s):  
General Population ◽  
Body Height ◽  
Lower Limbs ◽  
Lysosomal Storage ◽  
Mean Values ◽  
Morquio A ◽  
Mps Iva ◽  
Characteristic Features ◽  
Body Stature ◽  
Morquio A Syndrome

Abstract Background: Morquio A syndrome, or mucopolysaccharidosis (MPS) IVA is an autosomal recessive, life-limiting lysosomal storage disease caused by deficient activity of the enzyme galactosamine-6-sulfatase. Common early symptoms such as abnormalities of body stature can facilitate timely diagnosis. The aim of this study was to create a pattern of face and body stature based on anthropometric measurements taken from a cohort of Polish patients with MPS IVA. Methods: Analysis of 11 somatometric and 14 craniofacial features was performed on 20 patients with MPS IVA, aged from 3 months to 26 years. Diagnosis of MPS IVA was confirmed by enzymatic and molecular analysis. Two-tailed t-tests were used to compare mean values for body length and weight at birth between the MPS IVA patients and the general population. To show the degree and direction of deviation z-scores were calculated and then used to construct a model of an average MPS IVA patient. Results: Mean values for body height and weight at birth were greater for boys than for the general population. The observed pattern of head and body shape indicated that dwarfism occurred with increasing age as a result of relatively short trunk and lower limbs. Skeletal abnormalities included a bell-shaped chest with ratio of chest depth and chest width was significantly above the norm. The head and neck were relatively elongated in comparison to body height and tucked between narrow shoulders. The head was narrow and elongated, while the nose was short with wide nostrils. Conclusions: Multiple measurements – including age ranges – allowed the creation of a model that showed the most characteristic features of the MPS IVA phenotype.

scholarly journals A Case Report of a Japanese Boy with Morquio A Syndrome: Effects of Enzyme Replacement Therapy Initiated at the Age of 24 Months

2020 ◽  
Vol 21 (3) ◽  
pp. 989
Author(s):  
Akari Nakamura-Utsunomiya ◽  
Toshio Nakamae ◽  
Reiko Kagawa ◽  
Shuhei Karakawa ◽  
Sonoko Sakata ◽  
...  
Keyword(s):  
Enzyme Replacement Therapy ◽  
Replacement Therapy ◽  
Body Height ◽  
Decompression Surgery ◽  
Lysosomal Storage ◽  
Enzyme Replacement ◽  
Morquio A ◽  
Mps Iva ◽  
Morquio A Syndrome ◽  
Elosulfase Alfa

Background: Morquio A syndrome, mucopolysaccharidosis type IVA (MPS IVA), is a lysosomal storage disorder caused by the deficient activity of N-acetylgalactosamine-6-sulfatase (GalNac6S), due to alterations in the GALNS gene. This disorder results in marked abnormalities in bones and connective tissues, and affects multiple organs. Here, we describe the clinical course of a Japanese boy with MPS IVA who began enzyme replacement therapy (ERT) at the age of 24 months. Patient: the patient presented for kyphosis treatment at 22 months of age. An X-ray examination revealed dysostosis multiplex. Uronic acids were elevated in the urine and the keratan sulfate (KS) fraction was predominant. The leukocyte GalNac6S enzyme activity was extremely low. The patient exhibited the c.463G > A (p.Gly155Arg) mutation in GALNS. Based on these findings, his disease was diagnosed as classical (severe) Morquio A syndrome. An elosulfase alfa infusion was initiated at the age of 24 months. The patient’s body height improved from −2.5 standard deviation (SD) to −2 SD and his physical activity increased during the first 9 months on ERT. However, he gradually developed paralysis in the lower legs with declining growth velocity, which required cervical decompression surgery in the second year of the ERT. The mild mitral regurgitation, serous otitis media, and mild hearing loss did not progress during treatment. Conclusion: early initiation of the elosulfase alfa to our patient showed good effects on the visceral system and muscle strength, while its effect on bones appeared limited. Careful observation is necessary to ensure timely surgical intervention for skeletal disorders associated with neurological symptoms. Centralized and multidisciplinary management is essential to improve the prognosis of pediatric patients with MPS IVA.

scholarly journals Proteomic Analysis in Morquio A Cells Treated with Immobilized Enzymatic Replacement Therapy on Nanostructured Lipid Systems

2019 ◽  
Vol 20 (18) ◽  
pp. 4610 ◽  
Author(s):  
J. Víctor Álvarez ◽  
Susana B. Bravo ◽  
María García-Vence ◽  
María J. De Castro ◽  
Asteria Luzardo ◽  
...  
Keyword(s):  
Replacement Therapy ◽  
Delivery System ◽  
Skeletal Dysplasia ◽  
Cellular Protein ◽  
Lysosomal Storage ◽  
Enzyme Replacement ◽  
Morquio A ◽  
Mps Iva ◽  
Mucopolysaccharidosis Type Iva

Morquio A syndrome, or mucopolysaccharidosis type IVA (MPS IVA), is a lysosomal storage disease due to mutations in the N-acetylgalactosamine-6-sulfatase (GALNS) gene. Systemic skeletal dysplasia and the related clinical features of MPS IVA are due to disruption of cartilage and its extracellular matrix, leading to an imbalance of growth. Enzyme replacement therapy (ERT) with recombinant human GALNS, alpha elosulfase, provides a systemic treatment. However, this therapy has a limited impact on skeletal dysplasia because the infused enzyme cannot penetrate cartilage and bone. Therefore, an alternative therapeutic approach to reach the cartilage is an unmet challenge. We have developed a new drug delivery system based on a nanostructure lipid carrier with the capacity to immobilize enzymes used for ERT and to target the lysosomes. This study aimed to assess the effect of the encapsulated enzyme in this new delivery system, using in vitro proteomic technology. We found a greater internalization of the enzyme carried by nanoparticles inside the cells and an improvement of cellular protein routes previously impaired by the disease, compared with conventional ERT. This is the first qualitative and quantitative proteomic assay that demonstrates the advantages of a new delivery system to improve the MPS IVA ERT.

scholarly journals Treating a teenager with Morquio A syndrome (mucopolysaccharidosis IV A) with Vimizim

2021 ◽  
Vol 66 (4) ◽  
pp. 109-117
Author(s):  
E. E. Gurinova ◽  
A. L. Sukhomyasova ◽  
A. N. Semyachkina ◽  
P. V. Ochirova
Keyword(s):  
Muscle Tone ◽  
Interdisciplinary Approach ◽  
Fine Motor ◽  
Enzyme Replacement ◽  
Lack Of Information ◽  
Morquio A ◽  
Mps Iva ◽  
Mucopolysaccharidosis Type Iva ◽  
Morquio A Syndrome ◽  
Elosulfase Alfa

The article describes a clinical case of enzyme replacement therapy (ERT) with elosulfase alfa for a teenager with mucopolysaccharidosis type IVA (MPS IVA, Morquio A syndrome). Treatment was started quite late, at the age of 12, against the background of a severe course of Morquio A syndrome. Nevertheless, the child showedan improvement in enduranceand fine motor skills, and an increase in muscle tone. The article discusses lack of information on modern methods of enzymereplacement therapy, as well as the limitations of this type of therapy. The paper emphasizes the need for an interdisciplinary approach to treat such diseases and alleviate the condition of patients.

scholarly journals Anthropometric Parameters in National Footballers in the Republic of Macedonia

PRILOZI ◽  
2014 ◽  
Vol 35 (2) ◽  
pp. 147-154 ◽  
Author(s):  
Jasmina Pluncevic-Gligoroska ◽  
Lidija Todorovska ◽  
Beti Dejanova ◽  
Vesela Maleska ◽  
Sanja Mancevska ◽  
...  
Keyword(s):  
Body Mass ◽  
Adult Male ◽  
Body Height ◽  
The Body ◽  
Anthropometric Measurements ◽  
Lower Limbs ◽  
Football Players ◽  
Anthropometric Parameters ◽  
Republic Of Macedonia ◽  
The Republic

Abstract Objectives: The focus of this study is on anthropometric characteristics of footballers in the Republic of Macedonia, and the aim is to provide normative data for selected anthropometric parameters for adult male footballers in our country. Material and method: The study included eight hundred (800) adult male footballers, aged 24.06 ± 4.8y (age range 18–35y), who have undertaken routine sport medical examinations over a ten-year period. The football players were divided into six age – specific subgroups (“up to 20”; “up to 22”; “up to 24”; “up to 26”; “up to 28” and “over 28” years). Anthropometric measurements were made by Matiegka's protocols and body composition components were determined. Results: Average values of body height (178.8 ± 6.7 cm), body weight (77.72 ± 7.9 kg), lean body mass (66.21 ± 6.36 kg), body components (MM% = 53.04; BM% = 17.15; FM% = 14.7%) and a large series of anthropometric measurements which define the footballers' anthropometric dimensions were obtained. The distribution of the adipose tissue regarding the body and limbs showed that the skinfolds were thickest on the lower limbs and thinnest on the arms. Conclusions: The adult football players in Republic of Macedonia were insignificantly variable in height and body mass from their counter parts from European and American teams. The football players up to 20 year, who played in the senior national football league were lighter and smaller than their older colleagues. The football players aged from 20 to 35 years were insignificantly variable in height, body mass, and anthropometric dimensions of limbs and trunk.

scholarly journals Bisphosphonate Treatment in a Patient Affected by MPS IVA with Osteoporotic Phenotype

2013 ◽  
Vol 2013 ◽  
pp. 1-4 ◽  
Author(s):  
Albina Tummolo ◽  
Orazio Gabrielli ◽  
Alberto Gaeta ◽  
Maristella Masciopinto ◽  
Lucia Zampini ◽  
...  
Keyword(s):  
Therapeutic Option ◽  
Keratan Sulfate ◽  
Inherited Metabolic Disorder ◽  
Allogenic Bone ◽  
Enzyme Replacement ◽  
Morquio A ◽  
Mps Iva ◽  
Or Gene ◽  
Mucopolysaccharidosis Type Iva ◽  
Morquio A Syndrome

Morquio A syndrome (Mucopolysaccharidosis type IVA) (MPS IVA) is a rare inherited metabolic disorder characterized by the defective degradation of keratan sulfate and chondroitin-6-sulfate. Classically, MPS IVA patients present with severe multisystemic involvement and have a short life expectancy. Attenuated forms with clinical features limited to minor skeletal abnormalities and short stature have also been described, sometimes associated to an early-onset osteoporotic phenotype. No treatment with allogenic bone marrow transplantation or gene therapy is currently available for Morquio A syndrome, and enzyme replacement therapy is under evaluation. We report a case of MPS IVA, who manifested tardily attenuated phenotype and significant bone mass reduction, which was treated with a bisphosphonate (BPN), resulting in an improvement of X-ray skeletal aspects and functional bone performance. We suggest that the use of bisphosphonates may be an interesting supportive therapeutic option for Morquio A patients with osteoporotic phenotype, but further studies involving more patients are necessary to confirm our findings.

scholarly journals THE DEVELOPMENT OF MOTOR ABILITIES OF YOUNG ATHLETES AND GYMNASTS IN THE INITIAL PREPARATION PHASE

2020 ◽  
pp. 497
Author(s):  
Slobodanka Dobrijević ◽  
Marko Ćosić ◽  
Sonja Kocić Pajić ◽  
Stevan Grujić ◽  
Lidija Moskovljević
Keyword(s):  
General Population ◽  
Body Mass ◽  
Motor Development ◽  
Body Height ◽  
The Body ◽  
Mean Values ◽  
Motor Abilities ◽  
Preparation Phase ◽  
Initial Preparation ◽  
Cardiorespiratory Endurance

The aim of this study is to determine the effect of sports gymnastics and athletics training on the development of athletes’ motor abilities in the initial preparation phase. The study was conducted on a sample of 81 girls and boys of about 9 years of age, who train athletics (N=34) and gymnastics (N=47). A total of 9 variables were observed, three to assess anthropometric characteristics (body height, body mass and the body mass index) and 6 to assess the participants’ motor abilities (explosive leg power, repetitive power, agility, power endurance, flexibility, cardiorespiratory endurance). The one-sample t-test was used to compare the results with mean values of the general population of the same age, whereas a univariate ANOVA was used to compare the results between the athletes and the gymnasts of different genders. The results show that the level of motor development in girls is significantly higher than in the general population, while in boys, significant progress was not registered in power endurance and cardiorespiratory endurance, regardless of the sport they are engaged in. Regardless of gender, gymnasts have better flexibility compared to athletes, while athletes have significantly higher explosive power and agility.

scholarly journals Management of type IV A mucopolysaccharidosis or Marquio A syndrome (A case report)

2019 ◽  
Vol 6 (2) ◽  
pp. 121-124
Author(s):  
Amina Benbellal ◽  
◽  
Hanène Belabbassi ◽  
Sarrah Ait Ziane ◽  
Houria Kaced
Keyword(s):  
Case Report ◽  
Type Iv ◽  
Morquio A ◽  
Mps Iva ◽  
Morquio A Syndrome

La maladie de Morquio A, ou mucopolysaccharidose de type IV A (Morquio A syndrome, MPS IVA), est une maladie génétique rare ; multisystémique, et extrêmement invalidante. Elle est liée à un déficit enzymatique en N-acétylgalactosamine-6-sulfate sulfatase (GALNS), enzyme lysosomale responsable de la dégradation du kératane sulfate (KS) et de la chondroïtine-6-sulfate (C6S), éléments présents principalement dans le cartilage et la cornée. Cette maladie métabolique se manifeste principalement par une atteinte osseuse constante, sous forme d’une dysplasie spondylo-épi-métaphysaire progressive, et des complications ophtalmologiques, auditives et cardiaques plus modérées d’apparition tardive. Nous relatons le cas d’un enfant âgé de 8 ans qui présente cette pathologie, en étayant ses caractéristiques cliniques, et ses modalités thérapeutiques pluridisciplinaires.

scholarly journals Elosulfase Alfa Treatment in Morquio A Patients in Iran: A Before and After Study

2021 ◽  
Vol In Press (In Press) ◽  
Author(s):  
Mohammadreza Alaei ◽  
Marjan Shakiba ◽  
Hedyeh Saneifard ◽  
Ghamartaj Khanbabaee ◽  
Mohammadreza Khalilian ◽  
...  
Keyword(s):  
Quality Of Life ◽  
Standard Dose ◽  
Lysosomal Storage ◽  
Morquio A ◽  
Before And After ◽  
The Impact ◽  
Before And After Study ◽  
Morquio A Syndrome ◽  
Elosulfase Alfa

Background: Morquio A, an autosomal recessive lysosomal storage disease, is caused by a defect in the enzyme N-acetyl-galactosamine-6-sulfatase. This leads to the accumulation of the glycosaminoglycans chondroitin-6-sulfate (C6S) and keratan sulfate (KS), resulting in various skeletal manifestations, multisystemic impairments, and significant morbidities. Objectives: This study aimed to evaluate the impact of the addition of elosulfase alfa to the hospital protocol on treating Iranian pediatricians with Morquio A syndrome. Methods: A before and after study was conducted on ten patients with Morquio A syndrome diagnosis from 2019 to 2020. Elosulfase alfa was prescribed with the standard dose of 2 mg/kg/weekly IV infusion for 54 weeks. Then, growth indices, quality of life, and cardiopulmonary data were collected by research assistants using a pre-designed check. Data were entered in SPSS version 23. Quantitative variables were compared between the two periods using the Student's t-test, and qualitative variables were compared using the χ2 test or Fisher's exact test. Results: Ten pediatricians with MPS IV were included, seven of whom were female, with the mean age of 5.8 ± 2.3 years. The meantime for walking 6 m (P = 0.005), standing (P = 0.005), the stair climb test (P = 0.007), and quality of life (P = 0.015) had significant statistical difference before and after treatment by elosulfase alfa. Conclusions: The addition of elosulfase alfa in patients with Morquio A syndrome was associated with a significant improvement outcome in the ‘after’ treatment period.

scholarly journals Widespread Vasculopathy in a Patient with Morquio A Syndrome

2017 ◽  
Vol 44 (6) ◽  
pp. 420-423 ◽  
Author(s):  
Adam W. Powell ◽  
Michael D. Taylor ◽  
T. Andrew Burrow ◽  
Robert J. Hopkin ◽  
Carlos E. Prada ◽  
...  
Keyword(s):  
Ventricular Hypertrophy ◽  
Autosomal Recessive ◽  
Keratan Sulfate ◽  
Magnetic Resonance Images ◽  
Lysosomal Storage ◽  
Multiple Systems ◽  
Morquio A ◽  
Lysosomal Accumulation ◽  
Head Neck ◽  
Morquio A Syndrome

Morquio A syndrome (mucopolysaccharidosis IV type A), an autosomal recessive lysosomal storage disorder caused by a defective N-acetylgalactosamine 6-sulfatase gene, leads to lysosomal accumulation of keratan sulfate and chondroitin 6-sulfate. This accumulation affects multiple systems and causes notable cardiovascular manifestations, such as thickening of the left-sided valves, ventricular hypertrophy, and intimal stenosis of the coronary arteries. There have been few reports of vasculopathy in this population. We present the case of a 58-year-old woman with Morquio A syndrome who was found to have aortic dilation on a routine screening echocardiogram. Magnetic resonance images revealed multiple tortuous, dilated arteries in her head, neck, and abdomen. The diffuse vasculopathy seen in this patient should prompt further study to determine whether this is an underreported phenomenon of clinical significance or an unusual finding in this rare disorder.

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