The Etiological Study of Three Hunter Syndrome Families in Southern China / 中山大学学报(医学科学版)

ObjectiveTo reveal the molecular pathogenesis of Hunter syndrome in three families in southern China and to clarify the correlation between phenotype and genotype， so as to lay a foundation for future prenatal or preimplantation genetic diagnosis. MethodsOn the basis of initial clinical diagnosis and pedigree analysis， qualitative detection of glycosaminoglycans in urine was performed first， and then anticoagulant blood samples were collected from the children and their relatives. DNA was extracted and the IDS gene sequence was analyzed by PCR and Sanger sequencing. Various methods such as RT-PCR and bioinformatics analysis were used to identify the pathogenicity of the new variants. ResultsThe urine test results of the patients in the three families were all strongly positive（++）. Probands were all male， with hemizygous mutations in IDS gene from their mothers， and the mutation sites were c.615_622delCATACAGT， c.847_848delGT and IVS7 ds+1 G>A， respectively. The cross-species conservation analysis showed that the amino acid of IDS gene mutation site was highly conserved during species evolution. Compared with the normal protein， mutant proteins exhibited significant differences in the predicted results of advanced structure. The variants identified in the three families were classified as pathogenic by ACMG criteria. ConclusionsThe three probands were diagnosed with Hunter syndrome. The c.615_622del（p.Il206Valfs*18）， c.847_848del（p.Val283Alafs*57） and IVS7 ds+1 G>A （p.G336Dfs*12） of IDS gene are all novel pathogenic mutations， which are the underlying causes of morbidity in children. This study has further enriched the mutation spectrum of IDS gene.

Heavy metal resistance in the Yanomami and Tunapuco microbiome

BACKGROUND The Amazon Region hosts invaluable and unique biodiversity as well as mineral resources. Consequently, large illegal and artisanal gold mining areas exist in indigenous territories. Mercury has been used in gold mining, and some has been released into the environment and atmosphere, primarily affecting indigenous people such as the Yanomami. In addition, other heavy metals have been associated with gold mining and other metal-dispersing activities in the region. OBJECTIVE Investigate the gut microbiome of two semi-isolated groups from the Amazon, focusing on metal resistance. METHODS Metagenomic data from the Yanomami and Tunapuco gut microbiome were assembled into contigs, and their putative proteins were searched against a database of metal resistance proteins. FINDINGS Proteins associated with mercury resistance were exclusive in the Yanomami, while proteins associated with silver resistance were exclusive in the Tunapuco. Both groups share 77 non-redundant metal resistance (MR) proteins, mostly associated with multi-MR and operons with potential resistance to arsenic, nickel, zinc, copper, copper/silver, and cobalt/nickel. Although both groups harbour operons related to copper resistance, only the Tunapuco group had the pco operon. CONCLUSION The Yanomami and Tunapuco gut microbiome shows that these people have been exposed directly or indirectly to distinct scenarios concerning heavy metals.

A Retrospective Study of Mucopolysaccharidosis Type II in Brazil - Data from Brazilian Health System (DATASUS)

Abstract Data on Mucopolysaccharidosis type II (MPS II) in Latin America are scarce. This retrospective database study, using data from the Informatics Department of the Brazilian Health System (DATASUS), aimed to estimate the prevalence of MPSII in Brazil from 2008 to 2020 and to describe demographic and clinical profiles from patients under treatment. The study population was derived from DATASUS records of MPS II (ICD-10 E76.1) diagnosed in Brazil. Initially 455 patients were found, but only 181 patients who were receiving idursulfase treatment were included in this study. Among these cases, as expected in a X-linked disease, all were males and 40% of the cases were recorded in the Southeast region, and another 34% in the Northeast region. The biggest proportion of patients (39%) were diagnosed when they were 10-19 years old. There are 212 clinical conditions associated with MPS II, although the main comorbidities related to MPSII include: abdominal/inguinal hernia, respiratory complications, and carpal tunnel syndrome. Respiratory disorders were the fifth most frequent comorbidity recorded in these patients. The healthcare professionals in Brazil more involved in the diagnosis of MPS II were radiologists, followed by geneticists and cardiologists. Despite some limitations, DATASUS is a relevant database to provide information on rare diseases such as MPS II. Most cases were reported in southeast and northeast regions, respectively. This information is crucial to help design targeted public policies.

MUCOPOLYSACCHARIDOSIS TYPE 2: NARRATIVE REVIEW

Mucopolysaccharidosis type II, also known as Hunter syndrome, is a rare, progressive, multisystemic lysosomal storage disease caused by de?ciency of iduronate 2 sulfatase, an enzyme responsible for the degradation of the mucopolysaccharides dermatan (DS) and keratan sulfate (QS), causing their accumulation at the lysosomal level. It is an X-linked disease, therefore it is common to ?nd most cases in men, rarely in women, it is considered an orphan disease given an incidence of approximately 1/100,000 live births. Various phenotypes of severe (2/3) and attenuated disease have been described. The diagnosis is based on clinical ?ndings and the measurement of mucopolysaccharides DS and QS in urine, which are elevated, con?rmed by determining the enzyme de?ciency in serum, leukocytes and ?broblasts. It has been observed that in patients with enzyme replacement therapy somatic symptoms have decreased, however there are several studies of alternative therapies in the future, including gene therapy as an alternative in the future

Manifestaciones bucales de pacientes con mucopolisacaridosis / Oral manifestations in patients with mucopolysaccharidosis

Objetivo: Describir las características bucales prevalentes de pacientes argentinos con mucopolisacaridosis (MPS) atendidos en el Servicio de Odontología del Hospital Nacional "Prof. Alejandro Posadas". Materiales y métodos: Se consideraron las historias clínicas de 19 pacientes con diagnóstico de MPS. Se registraron la edad, el sexo, el lugar de residencia, el tipo de MPS y la presencia de retraso madurativo. La muestra estuvo constituida por 13 niños (6,7±3 años) y 6 adultos (26±9 años): 2 eran mujeres (1 con MPS tipo I; 1 con MPS tipo IV A) y 17 eran hombres (15 con MPS tipo 2; 1 con MPS tipo 1; 1 con MPS tipo III); 13 de los pacientes presentaban discapacidad intelectual. Se evaluaron: tipo de dentición, oclusión, macroglosia, hipoplasias del esmalte, tipo de respiración predominante, clase molar y tratamiento realizado. Resultados: Ambos casos con MPS I presentaban mordida abierta anterior y giroversión dental, y solo uno de estos, diastemas, microdoncia, hipoplasias del esmalte, macroglosia y respiración bucal. De los 15 pacientes con MPS II, 11 presentaban mordida abierta anterior (73%), 3 mordida cruzada posterior (20%), 5 giroversión dental (33%), 11 diastemas (73%), 3 retraso en la erupción (20%), 4 hiperplasia gingival (26%), 13 macroglosia (87%), 7 hipoplasias del esmalte (47%), 2 microdoncia (13%), 9 respiración bucal (60%). Se registraron 5 pacientes con clase molar I (33%), 3 con clase molar II (20%), 3 con clase molar III (20%) y en 3 casos no se pudo evaluar (20%). En el paciente con MPS tipo III se halló mordida abierta anterior, diastemas, retraso en la erupción, macroglosia, respiración bucal y clase molar II; y en el caso de MPS tipo IV A, mordida abierta anterior, diastemas, hiperplasia gingival, macroglosia y clase molar II. El 90% de los pacientes requirió tratamiento odontológico (AU)

Aim: To identify the most prevalent oral manifestations of 19 Argentine patients with mucopolysaccharidos (MPS) attending the Dentistry Service of the National Posadas Hospital. Materials and methods: The medical records of 19 patients diagnosed with MPS were considered. Age, sex, place of residence, type of MPS, and presence of maturational delay were recorded. The sample consisted of 13 children (6.7 ± 3 years) and 6 adults (26 ± 9 years): 2 were women (1 with MPS type I; 1 with MPS type IV A) and 17 were men (15 with MPS type 2; 1 with MPS type 1; 1 with MPS type III); 13 of the patients had intellectual disabilities. The following were evaluated: type of dentition, occlusion, macroglossia, enamel hypoplasia, predominant type of respiration, molar class and treatment performed Results: Both cases with MPS I presented anterior open bite and dental gyroversion, and only one of these, diastemas, microdontia, enamel hypoplasia, macroglossia and mouth respiration. Of the 15 patients with MPS II, 11 presented anterior open bite (73%), 3 posterior crossbite (20%), 5 dental gyroversion (33%), 11 diastemas (73%), 3 delayed eruption (20%), 4 gingival hyperplasia (26%), 13 macroglossia (87%), 7 enamel hypoplasia (47%), 2 microdontia (13%), 9 mouth breathing (60%). 5 patients with molar class I (33%), 3 with molar class II (20%), 3 with molar class III (20%) and in 3 cases it could not be evaluated (20%). In the patient with type III MPS, anterior open bite, diastemas, delayed eruption, macroglossia, mouth breathing and molar class II were found; and in the case of type IV A MPS, anterior open bite, diastemas, gingival hyperplasia, macroglossia and molar class II. 90% of the patients required dental treatment. Conclusion: The most observed oral manifestations were macroglossia (84.2%) and anterior open bite (73%) (AU)

Interacción entre Epipompilus platensis (Hymenoptera: Pompilidae) y Ariadna mollis (Araneae: Segestridae) / Interaction between Epipompilus platensis (Hymenoptera: Pompilidae) and Ariadna mollis (Araneae: Segestridae)

Resumen En el presente estudio se dan a conocer por primera vez, datos sobre la interacción entre ejemplares de avispas de la especie Epipompilus platensis Roig Alsina, 2017 (Hymenoptera, Pompilidae) y arañas de la especie Ariadna mollis (Holmberg 1876) (Araneae, Segestriidae), en las localidades de Punta Lara (partido de Ensenada) y José Hernández (partido de La Plata), ambas pertenecientes a la provincia de Buenos Aires. Se recolectaron varios ejemplares de A. mollis en el mes de abril del 2015, y se seleccionaron aquellos que presentaban un huevo o una pequeña larva adherida al dorso del abdomen. Se mantuvieron bajo observación en bioterio hasta completar el desarrollo al estado adulto de la avispa. Del total de las arañas colectadas, el 9.6% se encontró parasitado por avispas. De ese porcentaje, cuatro larvas de E. platensis llegaron al estado adulto (tres hembras y un macho). Los resultados obtenidos contribuyen al conocimiento de una nueva interacción entre avispas y arañas.

Abstract In the present study, data on the interaction between wasp specimens of the species Epipompilus platensis Roig Alsina, 2017 (Hymenoptera, Pompilidae) and spiders of the species Ariadna mollis (Holmberg 1876) (Araneae, Segestriidae) are presented for the first time. Present in the localities of Punta Lara (Partido de Ensenada) and José Hernández (Partido de La Plata), both belonging to the province of Buenos Aires. Several specimens of A. mollis were collected on april 2015, and those that presented an egg or a small larva attached to the back of the abdomen were selected. They were kept under observation in a bioterium until completing the development of the wasp's adult state. Of the total spiders collected, 9.6% were parasitized by wasps. Of that percentage, four larvae of E. platensis reached the adult stage (three females and one male). The results obtained contribute to the knowledge of a new interaction between wasps and spiders.

Bandas de Hunter-Schreger: propuesta terminológica / Hunter-Schreger bands: terminological propose

Las Bandas de Hunter-Schreger (BHS), son bandas claras y oscuras, que se aprecian en el esmalte debido a la distínta curvatura de los prismas del esmalte, resultan ser ampliamente mencionadas en estudios, tanto odontológicos como antropológicos, mas no se ven reflejadas en Terminologia Histologica. El objetivo del presente trabajo fue realizar un análisis del término BHS, con el fin de proponerlo como nuevo término histológico, y así poder ser incluido en Terminologia Histologica por la Federative International Programme for Anatomical Terminology (FIPAT). Luego del análisis en textos de estudio y publicaciones científicas, proponemos en reemplazo del término BHS, por dos términos: diazone prismatica (diá del griego δι á 'a través de' y del griego zon(e) ζωνη 'faja', 'zona de la tierra') y parazone prismatica (pará gr. 'a lo largo de' y del griego zon(e) ζωνη 'faja', 'zona de la tierra'), definiendo así términos más descriptivos y que no utilizan epónimos, tal como lo establece la Terminología Internacional. Proponer nuevos términos que estén más acorde con los señalado por la International Federation of Associations of Anatomists (IFAA) y la propia terminología, presenta grandes desafíos; un término no sólo es una palabra que hace referencia a una estructura morfológica, sino que también es una unidad del lenguaje, que une a la comunidad morfológica en un solo lenguaje. Por lo cual proponemos que el término sea incluido por la FIPAT en próximas discusiones.

Hunter-Schreger Bands (HSB), are light and dark bands, which can be seen in the enamel due to the different curvature of the enamel prisms, they are widely mentioned in studies, both dental and anthropological, but are not reflected in Terminologia Histologica. The aim of the present work was to carry out an analysis of the HSB term, in order to propose it as a new histological term, and thus be able to be included in Terminologia Histologica by the Federative International Program for Anatomical Terminology (FIPAT). After the analysis in study texts and scientific publications, we propose in replacement of the term HSB, for two terms: diazone prismatica (diá of Greek δι á 'through' and of Greek zon(e) ζωνη 'strip', 'zone of the earth') and parazone prismatica (pará gr. 'along' and from the Greek zon(e) ζωνη 'strip', 'zone of the earth'), thus defining the most descriptive and noneponymous terms, as the International Terminology says. Propose new terms that are more in agreement with those indicated by the International Federation of Associations of Anatomists (IFAA) and the own terminology, presents great answers; A term is not only a word that refers to a morphological structure, but also a unit of language, which unites the morphological community in a single language. So we propose that the term sea included by the FIPAT in the next discussions.

Home-Based Care for Patients with Lysosomal Storage Disease: Experiences in Argentina

ABSTRACT Enzyme replacement therapy (ERT) is a long term treatment for patients who suffer from lysosomal storage disease. A transversal descriptive study was conducted to evaluate advantages and disadvantages of a home-based care program for patients with Gaucher, Fabry and Mucopolysaccharidosis II (MPS II) diseases. A survey among patients and nurses involved in healthcare delivery at home was utilized for this study. The adherence rate was 92.9% over the study period. Eighty six point nine percent chose to carry out the treatment at home and 88.5% felt that their quality of life had improved. Additional advantages reported were: comfort (77%), treatment adjustment to daily activities (69%) and flexibility (58%). Disadvantages expressed were: lack of confidence with the health care provider at home (1.6%) and a shortage of disposable materials available (1.6%). The main benefits of home-based treatment were the high treatment adherence and the improvement in quality of life.

Analysis of 4 Cases of Electrocution due to Direct Current Electronic Hunter / 法医学杂志

Objective To summarize the characteristics of cases of electrocution due to direct current （DC） electronic hunter, and to provide references for forensic identification. Methods Four cases of electrocution due to DC electronic hunter were collected. Statistical analysis was carried out from the perspective of the scene and electric marks distribution, damage characteristics and histopathological changes. Results All the 4 cases of electrocution were accidental events. There were multiple electric marks, most of which were located in the lower limbs with serious damage. Some strip type electric marks were visible. Conclusion The distribution, morphological characteristics and severity of the electric marks caused by DC electronic hunter are different from those of the ordinary low-voltage alternating current damage. It is alerting that there would be actions of destroying the scene and abandoning the corpse in such cases.

Bilateral hunter′s bow syndrome combined with epilepsy: a case report / 中华神经科杂志

Bow hunter′s syndrome, also known as vertebral basilar artery insufficiency, is a rare disease characterized by post-circulation blood supply insufficiency caused by mechanical or stenosis of the vertebral artery when the head and neck rotate or over-extend. To date, few cases regarding the bilateral hunter′s bow syndrome concurrent with epilepsy have been reported. A 29-year-old man was admitted to the First Hospital of Jilin University due to seizures. Results from transcranial Doppler ultrasound and carotid ultrasound showed that the patient had bilateral hunter′s bow syndrome. Further imaging examination showed that the syndrome was caused by congenital bone fusion which resulted in mechanical occlusion of C1-C2 vertebral artery. This case indicates that seizures are closely related to hunter′s bow syndrome.

A case report of recurrent posterior circulation infarction caused by bow hunter syndrome / 中国脑血管病杂志

Rotational vertebral artery occlusion syndrome, also known as Bow Hunter Syndrome (BHS), is a rare clinical syndrome that causes mechanical occlusion or stenosis of the vertebral artery during head and neck rotation or extension. Ischemia symptoms of the vertebral-basilar artery system often occur during head rotation and could rapidly improve with neutral position. In a few cases, BHS may result in arterio-arterial embolic infarction due to secondary thrombosis from intimai injury caused by repeated compression of the vertebral artery. The author reported a case of a young female patient with repeated posterior circulatory infarction caused by BHS. The patient suffered from sudden unresponsiveness,memory decline,and right limb inflexibility. There were no vascular risk factors in her past history,and no correlation between clinical symptoms and neck rotation. Neck rotation test by carotid ultrasound showed the blood flow of left vertebral artery was decreased and reversed when the neck rotated to the right. Head and neck CT angiography (CTA) and DSA examination showed left vertebral artery local protrusion at the junction of V3 and V4,which was considered as dissection or pseudoaneurysm. Left vertebral artery segment after axial transverse foramen was not visible on CTA during right head rotation. High resolution MR showed a membranous structure protruding into the lumen at the V3-V4 junction of the left vertebral artery. It is suggested that the clinical symptoms of BHS may be unrelated to neck rotation, but could only present as posterior circulation area infarction combined with ipsilateral vertebral artery imaging characteristics of limited range of dissection or pseudoaneurysm. Missed diagnosis and misdiagnosis may occur if the clinicians lack the corresponding understandings and knowledge. Therefore, in young patients with posterior circulation cryptogenic stroke,morphological changes of posterior circulation vessels should be carefully analyzed. If necessary,carotid ultrasound neck rotation test or dynamic DAS should be conducted to clarify whether BHS is involved.

Bilateral hunter′s bow syndrome combined with epilepsy: a case report / 中华神经科杂志

Bow hunter′s syndrome, also known as vertebral basilar artery insufficiency, is a rare disease characterized by post?circulation blood supply insufficiency caused by mechanical or stenosis of the vertebral artery when the head and neck rotate or over?extend. To date, few cases regarding the bilateral hunter′s bow syndrome concurrent with epilepsy have been reported. A 29?year?old man was admitted to the First Hospital of Jilin University due to seizures. Results from transcranial Doppler ultrasound and carotid ultrasound showed that the patient had bilateral hunter′s bow syndrome. Further imaging examination showed that the syndrome was caused by congenital bone fusion which resulted in mechanical occlusion of C1-C2 vertebral artery. This case indicates that seizures are closely related to hunter′s bow syndrome.

The predator Coenosia Attenuata Stein (Diptera, Muscidae) on cultivated plants from Brazil

ABSTRACT Coenosia attenuata Stein (1903) is a predatory fly that is commonly found in greenhouses and open fields preying on whiteflies, leafminers, psocopterans and other insects. The species is widespread in the Old World and its distribution has expanded in recent times to Neotropical countries including Chile, Colombia, Costa Rica, Ecuador and Peru. We report here for the first time the presence of C. attenuata in Brazil, occurring in different sites in the State of Ceará (Northeastern Brazil). Expansion of the distribution range of this muscid to the eastern parts of South America opens up the possibility of applying the beneficial predator as a biological control agent for protected crops of the region.

Hematopoietic Stem Cell Transplantation in Mucopolysaccharidosis Type II: A Literature Review and Critical Analysis

Abstract Mucopolysaccharidosis II (MPS II—Hunter syndrome) is an X-linked lysosomal storage disorder caused by a deficiency in iduronate-2 sulfatase. Enzyme replacement therapy does not cross the blood-brain barrier (BBB), limiting the results in neurological forms of the disease. Another treatment option for MPS, hematopoietic stem cell transplantation (HSCT) has become the treatment of choice for the severe form of MPS I since it can preserve neurocognition when performed early in the course of the disease. Even though the intravenous therapy does not cross the BBB, it has become the recommended treatment for MPS II, and HSCT was not often indicated. In an attempt to understand why this treatment modality is rejected by most specialists as a treatment option for patients with Hunter syndrome, we sought to raise all HSCT cases already reported in the scientific literature. Databases used were Medline/PubMed, Lilacs/BVS Cochrane Library, DARE, SciELO, and SCOPUS. Different combinations of the terms "mucopolysaccharidosis II," "Hunter syndrome," "hematopoietic stem cell transplantation," "bone marrow transplantation," and "umbilical cord blood stem cell transplantation" were used. A total of 780 articles were found. After excluding redundant references and articles not related to the theme, 26 articles were included. A descriptive summary of each article is presented, and the main features are summed up. The clinical experience with HSCT in MPS II is small, and most of the available literature is outdated. The available data reveal poor patient selection criteria, varied conditioning regimens, distinct follow-up parameters, and post-HSCT outcomes of interest, making impossible to compare and generalize the results obtained. Recently, after the development of new conditioning protocols and techniques and the creation of bone marrow donor registries and umbilical cord banks, HSCT has become more secure and accessible. It seems now appropriate to reconsider HSCT as a treatment option for the neuronopathic form of MPS II.

Analysis of iodinated quorum sensing peptides by LC–UV/ESI ion trap mass spectrometry / 药物分析学报

Five different quorum sensing peptides (QSP) were iodinated using different iodination techniques. These iodinated peptides were analyzed using a C18 reversed phase HPLC system, applying a linear gradient of water and acetonitrile containing 0.1% (m/v) formic acid as mobile phase. Electrospray ionization (ESI) ion trap mass spectrometry was used for the identification of the modified peptides, while semi-quan-tification was performed using total ion current (TIC) spectra. Non-iodinated peptides and mono-and di-iodinated peptides (NIP, MIP and DIP respectively) were well separated and eluted in that order. De-pending on the used iodination method, iodination yields varied from low (2%) to high (57%).

Reorganizing Hospital Space: The 1894 Plague Edpidemic in Hong Kong and the Germ Theory / 의사학

This paper examined whether the preventive measures taken by the Hong Kong's colonial authorities were legitimate during the 1894 Hong Kong plague epidemic, and illuminated the correlation between the plague epidemic and hospital space in Hong Kong in the late 19th century. The quarantine measures taken by the colonial authorities were neither a clear-cut victory for Western medicine nor for a rational quarantine based on scientific medical knowledge. Hong Kong's medical officials based on the miasma theory, and focused only on house-to-house inspections and forced quarantine or isolation, without encouraging people to wear masks and without conducting disinfection. Even after Hong Kong plague spread, the Hong Kong's colonial authorities were not interested in what plague bacilli were, but in where they were to be found and how to prevent and control an outbreak of the disease. The germ theory brought significant changes to the disease classification system. Until the 1890s, Hong Kong's colonial authority had classified cause of death mainly on the basis of symptoms, infectious diseases, parts of the body and diseases of systems. Microbiological analysis of the cause of death in Hong Kong was started by Hunter, a bacteriologist, in 1902. He used bacteriological tests with a microscope to analyze the cause of death. New disease recognition and medical recognition brought large changes to hospital space as well. In particular, from the 1880s to the early 1900s, Western medical circles witnessed shifts from miasma theory to the germ theory, thereby influencing Hong Kong's hospital spaces. As the germ theory took ground in Hong Kong in 1894, the bacteriological laboratory and isolation ward became inevitable facilities, and hospital space were reorganized accordingly. However, the colonial authorities and local elites' strategy was different. As a government bacteriologist, Hunter established a central facility to unify several laboratories and to manage urban space from ouside the hospital. On the contrary, the Tungwah Hospital tried to transform hospital space with isolation ward and Receiving Ward System as the eclectic form of Chinese and Western medicine. The 1894 Hong Kong plague promoted the introduction of germ theory and the reorganization of hospital space.

Mucopolisacaridosis: características clínicas, diagnóstico y de manejo / Mucopolysaccharidosis: clinical features, diagnosis and management

Las mucopolisacaridosis (MPS) son un grupo de enfermedades raras (huérfanas), de baja prevalencia, caracterizadas por la deficiencia de enzimas que participan en el metabolismo de glucosaminglucanos (GAG) a nivel lisosomal. Se caracteriza por acumulación de GAG intracelular, produciendo alteraciones de múltiples órganos y sistemas. Su diagnóstico se basa en el conocimiento de las manifestaciones clínicas, realizar el análisis bioquímico para identificar el tipo de GAG que se está acumulando y confirmar el tipo de enfermedad con la determinación enzimática correspondiente. Su identificación es fundamental para iniciar un tratamiento oportuno, teniendo en cuenta que actualmente existe manejo transdisciplinario y tratamiento de reemplazo enzimático para MPS I (síndrome de Hurler), MPS II (síndrome de Hunter), MPS IV (síndrome de Morquio) y MPS VI (síndrome de Maroteaux-Lamy). En esta revisión se analizan cada uno de estos síndromes, su diagnóstico y tratamiento.

The mucopolysaccharidoses (MPS) are a group of rare (orphan) diseases, characterised by a deficiency of enzymes involved in the metabolism of glycosaminoglycans (GAGs) at lysosomal level. When there is a deficiency of a particular enzyme there is an accumulation of GAGs in the cells resulting in progressive cellular damage, which can affect multiple organ systems and lead to organ failure. Diagnosis is based on knowledge of the clinical manifestations, performing biochemical analyses to identify the type of GAG that is accumulating, and confirm the type of disorder with the corresponding enzymatic determination. Their identification is essential to initiate early treatment, taking into account that multidisciplinary management and enzyme replacement therapy is available for MPS I (Hurler syndrome), MPS II (Hunter syndrome), MPS IV (Morquio syndrome), and MPS VI (Maroteaux-Lamy syndrome. In this review, an analysis is made of each of these syndromes, as well as their diagnosis and treatment.

Mucopolisacaridosis (síndrome de Hunter) / Mucopolysaccharidosis (Hunter syndrome)

Se realiza una presentación de un caso interesante, no comúnmente visto en la práctica médica, de unos de los tipos de mucopolisacaridosis, específicamente de un síndrome de Hunter. Se hace esta presentación con el objetivo de dar a conocer a estudiantes y profesionales de la salud, mediante fotos, las características físicas del paciente con dicho sídrome, quien llegó desnutrido al hospital; se le operó de la hernia umbilical y se mejoró su estado nutricional al compensarse su hepatopatía. Se le da el alta médica en mejores condiciones(AU)

We present here an interesting case of mucopolysaccharidoses, which is not commonly seen in medical practice, specifically a Hunter syndrome. This presentation is done in order to make known to students and health professionals, through photos, the physical characteristics of the patient with such syndrome. This patient arrived malnourished at the hospital, he was operated on the umbilical hernia and improved his nutritional status by compensating for his liver disease. This patient had medical discharge in better conditions(AU)

Hunter Syndrome.

he mini review of Hunter syndrome aimed to explore etiology, incidence, clinical manifestations, diagnosis and treatment by reviewing recent literatures. Hunter syndrome (mucopolysaccharidosis II: MPS II) is a genetic lysosomal storage disease which is rare, It's caused by deficiency of the enzyme iduronate-2-sulfatase (I2S). Initial manifestations of Hunter syndrome are not present at birth, but often begin around ages of 2 to 4, which may include macrocephaly, thickened lips, facial features with typical coarseness like a prominent forehead, a nose with a flattened bridge, and an enlarged protruded tongue, cardiomyopathy, bone deformities, Mongolian spots over the buttocks and neurologic deficits. Hunter syndrome is commonly diagnosed by urine test for glycosaminoglycans (GAGs). Management of MPS II involves palliative treatment, or hematopoietic stem cell therapy (HSCT) which is more effective at an early stage than the enzyme replacement therapy (ERT) by Idursulfase. Intrathecal ERT is under clinical trial and fusion protein treatments, and gene therapy is under development.

Informe de adopción de ETS: idursulfasa para síndrome de Hunter / ETS adoption report: idursulfase for Hunter syndrome

El uso de Idursulfasa como tratamiento del síndrome de Hunter o Mucopolisacaridosis tipo II, genera beneficios a los pacientes, relacionados a la capacidad de desempeñar algunas funciones como caminar y mejoría en el tamaño del bazo y el hígado que podrían producir molestias al paciente. Se recomienda la cobertura del medicamento Idursulfasa como tratamiento del síndrome de Hunter o Mucopolisacaridosis tipo II, bajo la modalidad de cobertura con generación de evidencia.(AU)