Manifestaciones orales del síndrome de Maroteaux-Lamy (Mucopolisacaridosis VI) / Oral manifestations of Maroteaux-Lamy syndrome (Mucopolysaccharidosis VI)

La mucopolisacaridosis tipo VI, también conocida como síndrome de Maroteaux-Lamy, es un trastorno lisosómico autosómico recesivo, causado por la deficiencia de la enzima arilsulfatasa B, lo que conduce a la acumulación de dermatán sulfato en los tejidos y su excreción urinaria. La deposición de mucopolisacáridos genera un trastorno progresivo que afecta a múltiples órganos y que, a menudo, resulta en la muerte a temprana edad. Esta enfermedad tiene varias manifestaciones orales, entre las que destacan las complicaciones dentales, que pueden ser graves e incluir folículos similares a quistes dentígeros, maloclusiones, defectos condilares e hiperplasia gingival, además de características clínicas como cuello corto, opacidad corneal, macroglosia y agrandamiento del cráneo, dimensión anteroposterior larga y mano en garra. Se presenta el caso de un paciente de 14 meses de edad que acudió a consulta de odontopediatría por episodios de fiebre, bajo peso e hiperplasia gingival severa. El examen físico evidenció facies tosca, cuello corto, pectus excavatus, manos con disminución en agarre y retardo en el neurodesarrollo. El examen intraoral halló retardo de la erupción dental, hiperplasia gingival generalizada y paladar con poco crecimiento transversal. El examen radiográfico detectó órganos dentarios incluidos y mala posición en el sector anterior, molares superiores dentro del seno maxilar y caninos inferiores rotados. El paciente fue remitido a medicina para exámenes bioquímicos y genéticos para definir el diagnóstico. La bioquímica reveló MPS tipo VI, lo que fue confirmado mediante prueba molecular. Las manifestaciones clínicas en este caso corresponden a la forma clínica de progresión rápida reportada en estos pacientes: talla baja, malformaciones esqueléticas y alteraciones a nivel oral. Los niños con MPS VI grave comienzan temprano y progresan rápidamente, las radiografías óseas y la medición de GAG en orina son útiles para el diagnóstico con actividad de la enzima ARSB y genética. Es necesario fortalecer el conocimiento en odontología y la población en general sobre las características clínicas de mucopolisacáridos tipo VI para tener un diagnóstico temprano y un mejor manejo de patologías en estos pacientes. (AU)

Mucopolysaccharidosis type VI, also known as Maroteaux-Lamy syndrome, is an autosomal recessive lysosomal disorder, due to the deficiency of the enzyme arylsulfatase B that leads to the accumulation of dermatan sulfate in the tissues and its urinary excretion. Mucopolysaccharide deposition leads to a progressive disorder affecting multiple organs that often results in death at a young age. This disease has several oral manifestations, among which dental complications can be serious and include follicles similar to dentigerous cysts, malocclusions, condylar defects and gingival hyperplasia, in addition to a short neck, corneal opacity, macroglossia, skull enlargement, anteroposterior dimension long, claw hand is some of the clinical features. A case of a 14-month-old patient is presented, who attended a pediatric dentistry consultation for episodes of fever, low weight, severe gingival hyperplasia. Physical examination revealed coarse facies, short neck, pectus excavatus, hands with decreased grip, and neurodevelopmental delay. On intraoral examination, dental eruption delayed, generalized gingival hyperplasia, palate with little transverse growth. On radiographic examination, dental organs included and poor position in the anterior sector, upper molars within the maxillary sinus, rotated lower canines. He is referred to medicine for biochemical tests and genetics for diagnosis. Detailed biochemistry MPS type VI, confirmed by molecular testing. The clinical manifestations in this case correspond to the clinical form of rapid progression reported in these patients. They report: short stature, skeletal malformations and alterations at the oral level. Children with severe MPS VI start early and progress rapidly, bone radiographs and urine GAG measurement are helpful for diagnosis with genetic and ARSB enzyme activity. It is necessary to strengthen the knowledge in dentistry and the general population about the clinical characteristics of type VI mucopolysaccharides in order to have an early diagnosis and management of pathologies in these patients. (AU)

Soil microbiological properties and enzyme activity in agroforestry systems compared with monoculture, natural regeneration, and native Caatinga / Propriedades microbiológicas e atividade enzimática do solo sob sistemas agroflorestais comparado com monocultura, regeneração natural e caatinga nativa

The objective of this study was to evaluate the influence of agroforestry systems of different ages (AFS1: one-year old; AFS5: five-years old) on the biological attributes of soil; the following systems were used for comparison: a slash-and-burn (SBF) farming area, Caatinga which has been undergoing regeneration for 6 years (CaR6), and native Caatinga (NCa) in Brazil. Enzyme activity, abundance and composition of arbuscular mycorrhizal fungi (AMF), and production of glomalin-related soil proteins (GRSP) were evaluated at soil depths of 0­0.05 m. AMF species composition in the AFS was more similar to that in the NCa than in the SBF and CaR6 systems. In the rainy season, sporulation was most abundant in the AFS-1, CaR6, and SBF systems, whereas GRSP concentrations were highest in the AFS5 during the dry season. Acid phosphatase and arylsulfatase enzyme activity was lower in the AFS1 soils than in the NCa and SBF soils (rainy period), and levels of ß-glucosidase and fluorescein diacetate hydrolysis in the AFS were equal to or higher than those in the NCa in the dry season but lower in the rainy season. AFS thus appear to promote the maintenance of soil biological quality, and may be more sustainable than SBF farming systems in the Brazilian Caatinga over the long term.

O objetivo do estudo foi avaliar a influência de sistemas agroflorestais (AFS1: um ano de idade; AFS5: cinco anos de idade), nos atributos biológicos do solo usando como referência, uma área de agricultura de corte e queima (SBF), Caatinga em regeneração há 6 anos (CaR6), e Caatinga nativa (NCa), in Brasil. A atividade enzimática, a abundância e composição dos fungos micorrízicos arbusculares (AMF), e a produção de proteína do solo relacionada à glomalina (GRSP) foram avaliados, na profundidade de 0-5 cm do solo. A composição das espécies de AMF nos AFS foi mais semelhante a observada na NCa, do que os sistemas SBF e CaR6. Na estação chuvosa, a esporulação foi mais abundante em AFS-1, CaR6 and SBF quando comparada as outras áreas, enquanto a GRSP apresentou maiores teores no AFS5 no período seco. AFS1 apresentou atividade da fosfatase ácida e arilsulfatase inferiores tanto a NCa quanto a SBF, no período chuvoso. No período seco, a atividade de ß-glicosidase e a hidrólise do diacetato de fluoresceína (FDA) na AFS foram iguais ou superiores a Nca, mas menor no período chuvoso. Verifica-se que os AFS são potenciais para a manutenção da qualidade biológica do solo, podendo, em longo prazo, serem mais sustentáveis que a SBF, em ambiente de Caatinga.

Lysosomal enzymatic activities in seminal plasma of Iraqi patients with male infertility

Infertility is defined as the inability to conceive after one year of unprotected sexual intercourse. Some cases of male infertility are due to a specific cause whereas others are due to less obvious etiologies and results in less drastic changes in semen parameters. Arylsulfatase A, arylsulfatase B and alkaline proteinase have not been studied adequately in relation to male infertility. To study the association between seminal plasma arylsulfatase A, arylsulfatase B and alkaline proteinase enzyme activities and semen parameters in different Iraqi male infertile patients. Sixty patients with male infertility were included in this study. The male patients were categorized according to their seminal fluid parameters to oligospermia [n=32], azoospermia [n=22] and asthenospermia [n=6]. All results obtained were compared with age - matched healthy controls group consisting of 39 subjects. The experiments were carried out in the laboratories of the physiological chemistry department at the college of Medicine / Al - Nahrain University during the period from November 2004 to July 2006. arylsulfalase A and arylsulfatase B were significantly decreased in all infertility groups. Seminal plasma arylsulfatase A decreased 73.55% in oligospermia group, 75.14% in azoospennia group and 73.87% in asthenospermia group in relation to the normal fertile group. Seminal plasma arylsulfatase B decreased 72.78% in oligospermic patients, 22.34% in azoospermic patients and 44.82% in asthenospermic patients compared with the normal fertile group. On the contrary, seminal plasma alkaline proteinase increased 1.55, 1.86 and 2.11 fold in oligospermic, azoospermic and asthenospermic groups respectively from normal group. It is possible to use seminal plasma arylsulfatase A, arylsulfatase B and alkaline proteinase as fertility markers in the different male infertility types

Prevalence of some lipidosis among Egyptian children with neurodegenerative disorders

The present work comprised 30 patients belonging to 27 families. The age of the studied patients ranged from 7 months to 10 years [mean 43.9 +/- 27.69 months]. The age of onset of the disease ranged from 7 months to 5 years [mean 17.26 +/- 13.3 months]. All patients suffered from developmental delay or progressive loss of previously acquired milestones, with no coarse facial features, organomegaly or ectodermal abnormality. For all patients the following was done: - Full medical history, thorough clinical examination and family pedigree construction. - Fundus examination and nerve conduction velocity [NCV]. - MRI of brain and IQ assessment. - Measurement of arylsulphatase A, galactocerebroside: beta-galactosidase activity in peripheral leucocyte was also done together with chitotriosidase level in plasma. Twenty two patients [73.33%] had normal fundus examination, and eight patients [26.66%] had various fundus findings [three patients [10%] had pale optic disc, and five patients [16.66%] had optic atrophy] - Twenty five patients [83.33%] had normal NCV, and five patients [16.66%] had demyelination. - All patients had +ve MRI findings, 19 patients [63.33%] had dysmyelination and 11 patients [36.33%] had brain atrophy. - Twenty six patients had normal value of Aryl sulphatase A activity [ASA] [51-200 micro mol/g- p/h], while three cases demonstrated decreased activity [one case had pseudodeficiency value [10-50 micro mol/g-p/h], and two cases had actual deficiency of enzyme activity [<10 micro mol/g -p/h] and diagnosed as metachromatic leukodystrophy]. - Twenty eight patients had normal value of Chitotriosidase activity [CT] [4-80 micro mol/l/h] and one patient had high value. - Galactocerebroside beta-galactosidase activity [GALC] was measured in leukocytes for 29 index cases. Normal value was detected in all cases [0.5-4 micro mol/g-p/h]. One case [3.33%] had Gaucher disease, another had aryl sulfatase A pseudodeficiency and a third case had most probably Pelizaeus Merzbach disease, two cases had infantile Metachromatic leukodystrophy [6.66%], while another two had congenital muscular dystrophy. All other patients need further follow up and further investigations

Maroteaux-Lamy syndrome.

Mucopolysaccharidoses are a type of lysosomal storage disorders characterized by defect in the degradation of Mucopolysaccharides due to deficiency of specific lysosomal enzymes leading to their accumulation in various tissues. MPS -VI (Maroteaux-Lamy Syndrome) is an autosomal recessive syndrome due to deficiency of enzyme Aryl- Sulfatase -B, and is characterized by characteristic facies, normal intelligence, Dysostosis multiplex, organomegaly, joint stiffness, corneal clouding and striking inclusions in peripheral blood leucocytes. We present an 8-year-old male child with MPS-VI syndrome, confirmed by enzyme assay.

Effect of adrenalectomy on rat epididymidis / 亚洲男科学杂志(英文版)

<p><b>AIM</b>To investigate the effect of adrenalectomy (ADX) on the epididymidis of Sprague-Dawley rats.</p><p><b>METHODS</b>The histological, biochemical (cholesterol protein, zinc, copper, alkaline and acid phosphatase aryl sulphatase, lactic dehydrogenase and leucine amino peptidase) and hormonal (FSH, LH and testosterone) changes of caput and cauda epididymis in ADX rats were observed.</p><p><b>RESULTS</b>Organ wet weight, histological studies and morphometric measurements indicated a cellular degeneration in caput and cauda epididymis of ADX rats. Serum testosterone level was significantly lower in ADX than in sham-operated rats, while the serum FSH and LH were below the detection limit of 1 mIU/mL. The enzymatic activity was higher in ADX than in sham-operated rats. Epididymal zinc level increased whereas copper level decreased in ADX rats compared to the sham-operated.</p><p><b>CONCLUSION</b>Adrenalectomy leads to degeneration of caput and cauda epididymidis epithelial cells as a result of decreased supply of testosterone.</p>

Effect of 2-deoxy-D-glucose on metabolism of glycosaminoglycans in normal and hypercholesterolemic rats.

Carbohydrates are the integral parts of glyco-conjugates and play an important role in cellular functions. 2-Deoxy-D-glucose (2-dGlc) is a sugar analogue of glucose and mannose and is reported to inhibit the lipid-linked saccharide formation involved in N-linked glycosylation of proteins. Administration of 2-dGlc (1 mg/100 g body weight) produced a decrease in the tissue total glycosaminoglycans level. We found that the activity of the enzymes involved in the biosynthesis of precursors of glycosaminoglycans (GAG) decreased, but that of the degrading enzymes increased. Thus, the decreased levels of GAG in tissues in 2-dGlc-administered rats occurs via enhanced degradation as well as decreased synthesis.

Hepatic arylsulfatases A and B activities in streptozocin - induced diabetic rats

Reduction of sulfated glycosaminoglycans [GAG] in the liver and kidney of streptozocin-induced diabetic rats has been attributed to lowered synthesis and perhaps higher degradation of such compounds in these organs. To measure hepatic lysosomal arylsulfatases A and B, [the enzymes responsible for the removal of sulfate groups from GAG], in starved and streptozocin-induced diabetic rats. Diabetes was induced by streptozocin injection [40 mg per kg body weight] through the caudal vein in rats. After two weeks, the livers were removed and homogenized. Activities of arylsulfatases A and B were measured and compared with those of the liver homogenates from healthy and starved rats. The activity of liver arylsulfatase A in starved diabetic rats increased 2.15 fold as compared with normal starved animals, while that of fed diabetic rats was 3.16 fold higher than their respective control group. Increases of 1.70 and 1.94 fold in specific activities of arylsulfatase B was noticeable in the livers of diabetic animals under fed and starved conditions, respectively. It appears that increased hydrolysis of sulfated GAG by liver lysosomal arylsulfatases A and B in streptozocin-induced diabetic rats may be among the contributing factors in the reduction of such sulfated compounds in this tissue

Arylsulfatases in fresh water snails

The biodegradation of glycosaminoglycans [GAGS] was studied in an attempt to introduce more selectively into the control of the host snails for parasitic diseases. Characterization of sulfatase acting on GAGs from Biomphalaria alexandrina, Bulinus truncatus, Physa acuta and Lymnaea cailliaudi were carried out. Cell organelles were separated from B. alexandrina 7 weeks post infected with 10 S. mansoni miracidia and noninfected snails. Acid phosphatase [APase] and arylsulfatase [ARase] activation were found mainly in the lysosomal and cytosolic fractions. Their activity increased after infection with S. mansoni miracidia. The effect of pH, substrate concentration and inhibitors on the ARase activity were examined in the four snail species. The results point to the presence of more than one form of the ARase for the following observations: [a] The presence of pH optima at 5.0-5.6 and a shoulder between 6-7. [b] Plotting initial velocity versus substrate [p-nitrocatechol sulfate] concentration did not give the typical Michaelian behaviour [concave downward]. [c] The lysosomal enzyme is more sensitive to the known ARase inhibitors [sulfate, phosphate and cyanide]. Electrophoresis of the degradation products of chondroitin sulfate by the crude extract on agarose gel indicate that the extract contain sulfatase, beta-glucocuronidase and beta-N-acetylgalactosaminidase

Zinc, copper and hydrolytic enzymes in epididymis of hydrocortisone treated rat.

Administration of glucocorticoid (1, 2 and 4 mg) in excess leads to degeneration of epididymides as supported by cellular degeneration, sperm density and morphometric measurements. Zinc level increased statistically after 1, 2 and 4 mg hydrocortisone treatment while copper increased after 1 and 2 mg treatment. Cholesterol, protein and leucine aminopeptidase levels increased and decreased significantly in caput and cauda respectively. Activity of alkaline phosphatase reduced significantly while the treatment of hydrocortisone at different doses elevated acid phosphatase, aryl sulphatase and lactate dehydrogenase activities. Evidently, these changes are as a result of onset of cellular degeneration leading to impairment of metabolic/secretory activity of epididymal cells. The possible involvement of pituitary-testis axis in hydrocortisone induced epididymal degeneration and functional inhibition has been discussed.

effect of dimethylnitrosamine on the activities of renal puenolsulfotransferase and arylsulfatases A and B in schistosoma mansoni infected mice

The activities of renal phenolsulfotransferase and arylsulfatases A and B were estimated in 400 male Swiss albino mice classified into four groups: Normal controls, Schistosoma mansoni infected group, Dimethylnitrosamine [DMN] treated group and infected treated group. The activity levels of the studied enzymes were significantly increased in all groups when compared with the control group, also the statistical analyses showed a high significant increase of the three enzymes levels in the infected treated group; when compared separately with treated or infected groups. It was concluded, therefore, that schistosomal infection is implicated in the development of kidney cancer which may arise from the pattern of hepatic mixed-function oxidase induction characterized for schiatosomiasis and its temporal relationship with the procarcinogenic initiating events. Furthermore, the striking significant increase in the enzymatic activity levels of the acid hydrolases arylsulfatases due to the lesion of both cytotoxic effects of dimethylnitrosamine as well as pathological change of schistosomiasis which may play an active role in the initiation of the malignant process by detoxifying endogenous sulfated aromatic metabolites

Arilsulfatase C e o diagnóstico de ictiose recessiva ligada ao X / Arylsulphatase C and the diagnosis of recessive X-linked ichthyosis

Nas ictioses recessivas ligadas ao x (IRLX) ocorre deficiência ou ausência de atividade da enzima colesterol-sulfatase (arilsulfatase C). A descamaçäo da camada córnea é retardada, determinando quadro clínico característico. Com base em um caso clínico de IRLX, säo discutidos os aspectos clínicos, bioquímicos e genéticos dessa forma de ictiose

study of glycosaminoglycans and some lysosomal enzymes in the serum and synovial fluid in osteoarthritis

The study was done on 25 patients with osteoarthritis as well as 25 healthy persons as a control group. Determination of serum beta-glucuronidase, beta-galactosidase and aryl sulfatase activities as well as serum concentration of glycosaminogylcans and glucuronic acid were done in both groups. The same parameters were determined in the synovial fluid of the patients only. There were significant increase of serum beta-glucuronidase activities, aryl sulfatase activities and glucuronic acid concentration in osteoarthritic patients as compared to control group. There was a significant decrease of serum glycosaminoglycan in osteoarthritic patients as compared to control group. But there was no significant change of beta-glactosidase activities

Mode of action of iron on arylsulphatases under acute lead acetate treated conditions in rats.

Arylsulphatases A, B and C were found to be inhibited in liver and kidney tissues under lead acetate-treated conditions (both in vivo and in vitro) in rats. When lead acetate-treated animals (in vivo) were supplemented with ferric ammonium citrate (in vivo), a remarkable recovery was found in the activities of all arylsulphatases A, B and C whereas ferric ammonium citrate itself had no effect on the activities of arylsulphatases. When both the in vivo and in vitro lead acetate-treated arylsulphatases were supplemented with the purified ferritins (in vitro) it was observed that lead-induced inhibition of the activities of arylsulphatases was successfully reversed. It was also found that ferritins were able to bind a large quantity of lead. These results indicated that ferritins were directly involved for reactivation of arylsulphatases which were inhibited by lead. It was well established that a response to iron administration in rats was an immediate de novo stimulation of ferritin biosynthesis. Iron might therefore protect the enzymatic activities of arylsulphatases by enhancing the level of ferritin in liver and kidney tissues which is known to bind a large quantity of lead thereby ameliorating their toxic effects in the living system.

Cytochemical study of aryl sulphatase and non-specific esterase in colon adenocarcinoma after 5-fluorouracil and OCNU treatment and their effects on the immune function

The localisation and enzymatic activity of aryl sulphatase and non-specific esterase in normal colon, colon adenocarcinoma, 5-fluorouracil and CCNU treated cells were studied respectively. Intracytoplasmic granular reactions were observed for all tissues. The enzymatic activity was found to be more intense in malignant cells of colon. The increased activities of these enzymes in treated cells might be considered as an index of the in creased fragility of lysosomes and degeneration of some tumour cells which acompanied by a decrease in T-Cells function