Nefronoptisis: reporte de un caso pediátrico / Nephronophthisis: a pediatric case report

La nefronoptisis es una enfermedad renal quística, de herencia autosómica recesiva, causada por mutaciones en genes que codifican proteínas involucradas en la función de cilios primarios, lo que resulta en enfermedad renal y manifestaciones extrarrenales como degeneración retiniana y fibrosis hepática. Según la edad de desarrollo de enfermedad renal crónica terminal, se describen tres formas clínicas de presentación: infantil, juvenil y adolescente. El diagnóstico se realiza por una prueba genética positiva o una biopsia de riñón que demuestre cambios tubulointersticiales crónicos con un engrosamiento de las membranas basales tubulares. No existe hasta la actualidad una terapia curativa, por lo que el trasplante renal oportuno es determinante en cuanto al pronóstico. Se presenta un paciente de 13 meses de edad con poliuria de 3 meses de evolución, insuficiencia renal, anemia y elevación de transaminasas. Con hallazgos histológicos compatibles en la biopsia renal, se arribó al diagnóstico de nefronoptisis infantil, con afectación hepática

Nephronophthisis is an autosomal recessive cystic kidney disease caused by mutations in genes that encode proteins involved in the primary cilia function, resulting in kidney disease and extrarenal manifestations such as retinal degeneration and liver fibrosis. According to the age of development of end-stage chronic kidney disease, three clinical forms of presentation are described: infantile, juvenile and adolescent. Diagnosis is made by a positive genetic test, or a kidney biopsy demonstrating chronic tubulointerstitial changes with thickening of the tubular basement membranes. At the moment there is no healing therapy, so early kidney transplant is a fundamental tool to improve prognosis.We present a 13-month old male patient with polyuria, kidney failure, anemia and elevated aminotransferases over three months. With compatible histological kidney biopsy, the diagnosis of infantile nephronophthisis with liver involvement was reached.

Lethal and semi-lethal mutations in Holstein calves in Uruguay / Mutações letais e semi-letais em bezerros da raça Holandesa no Uruguai

ABSTRACT: Genetic disorders in Holstein cattle are a health problem that has grown worldwide in recent years, compromising the sustainability of modern dairy production. In Uruguay, Holstein-based milk production is one of the most important sectors of the country's economy, but high levels of inbreeding have decreased the breed's fertility in recent decades. This study investigated the presence and diffusion of lethal and semi-lethal alleles causing embryo death, abortions, fetal malformations, and neonatal diseases in Holstein calves. Using the GeneSeek® Genomic Profiler™ Bovine 50K BeadChip, we genotyped 383 calves (1-30 days-old) from 27 farms located in the main dairy region of Uruguay. Results showed a high prevalence of farms (85%) and carrier calves (21%), including one or more of the following semi-lethal or lethal alleles: Syndactylism (4.18%), brachyspina (3.39%), cholesterol deficiency haplotype (2.61%), complex vertebral malformation (2.09%), bovine leukocyte adhesion deficiency (1.04%s), and Holstein haplotypes HH1 (4.44%), HH3 (3.13%), HH4 (1.04%), and HH5 (0.26%). Most of these alleles had not been recognized previously in Uruguay. We concluded that lethal and semi-lethal mutations are widespread in the Holstein breed in Uruguay. More studies are required to determine their impact on dairy cattle fertility.

RESUMO: Os distúrbios genéticos nos bovinos da raça Holandesa são um problema de saúde que cresceu nos últimos anos a nível mundial, comprometendo a sustentabilidade da produção leiteira moderna. No Uruguai, a produção leiteira com base na raça Holstein é um dos setores mais importantes da economia do país, mas altos níveis de endogamia diminuíram a fertilidade da raça nas últimas décadas. O objetivo deste estudo foi investigar a presença e difusão de alelos letais e semi-letais causando morte de embriões, abortos, malformações fetais e doenças neonatais em bezerros da raça Holandesa. Usando o BeadChip Bovino 50K GeneSeek® Genomic Profiler™, genotipamos 383 bezerros (menos de um mês) de 27 fazendas localizadas na principal região leiteira do Uruguai. Os resultados mostraram uma alta prevalência de fazendas (85%) e bezerros portadores (21%), incluindo um ou mais dos seguintes alelos letais ou semi-letais: sindactilismo (4,18%), braquipespina (3,39%), haplótipo de deficiência de colesterol (2,61%), malformação vertebral complexa (2,09%), deficiência de adesão de leucócitos bovinos (1,04% s) e haplótipos de Holstein HH1 (4,44%), HH3 (3,13%), HH4 (1,04%) e HH5 (0,26%). A maioria desses alelos não havia sido reconhecida anteriormente no país. Concluímos que as mutações letais e semi-letais são comuns na raça Holstein no Uruguai. Mais estudos são necessários para determinar seu impacto na fertilidade do gado leiteiro.

Síndrome de Marfán en la edad adulta / Marfan's Syndrome

El síndrome de Marfán es una enfermedad que integra el grupo de las llamadas colagenopatías no autoinmunes. Etiológicamente consiste en la mutación del gen que codifica la fibrilina 1, que se encarga junto con otras proteínas como la elastina de formar los microfilamentos de sostén de la matriz celular. Este defecto genera diversas manifestaciones clínicas por trastornos en diferentes sistemas (esquelético, cardiovascular, gastrointestinal, ocular). Se presenta un paciente de 43 años de edad, de raza negra, que llegó a la edad adulta sin un diagnóstico de la enfermedad. Incidentalmente sospechamos el diagnóstico al tratar una neumonía adquirida en la comunidad. Se trató su cuadro de neumonía con piperacilina y tazobactam por 7 días. Se recomendó la valoración por parte de cirugía cardiovascular por hallazgos de aneurisma de la aorta ascendente, pero el paciente decidió no continuar con los estudios de su enfermedad. Se aconsejó cambios en el estilo de vida y ejercicios físicos y se diagnosticó alta probabilidad de muerte por el problema vascular descrito(AU)

Marfan's syndrome is a disease that is included in the group of the no autoimmune collagen diseases, the ca use of this syndrome is a mutation in the gen FBN1 that translate the protein fibrillin 1, that is fundamental besides other proteins like elastin to form a part of the extracellular matrix. This defect generates multiple clinical manifestations due to defects in different systems (skeletal, cardiac, big vessels, gastrointestinal, ocular). The reported case is of a patient who reached adulthood without a diagnosis of the diseases, which we incidentally suspect in the context of community acquired pneumonia(AU)

Arthrogryposis multiplex congenita in Aberdeen Angus cattle in Uruguay / Artrogripose múltipla congênita em bovinos Aberdeen Angus no Uruguai

Arthrogryposis multiplex congenita is reported for the first time in the Aberdeen Angus (AA) breed in Uruguay. In a commercial herd of 30 purebred Aberdeen Angus cows, two calves with severe musculoskeletal malformations died at birth. The cows had been inseminated using semen imported from Argentina from one elite AA sire only. At necropsy, one calf showed severe muscular atrophy, arthrogryposis affecting all four limbs and the spine, kyphoscoliosis and torticollis. Histopathology showed muscular atrophy with marked fiber size variation and abundant fibroadipose fibers. The central nervous system only showed congestion and edema due to dystocia, whereas the peripheral nerves and the number of motor neurons in the spinal appeared normal. DNA analysis confirmed arthrogryposis multiplex congenita. It is concluded that disease in Aberdeen Angus cattle is due to failure in the neuromuscular junction.(AU)

Artrogripose múltipla congênita é relatada pela primeira vez em bovinos Aberdeen Angus (AA) no Uruguai. Num rebanho comercial de 30 vacas a Aberdeen Angus, dois bezerros com graves malformações musculoesqueléticas morreram logo após o nascimento. As vacas foram inseminadas utilizando sêmen importado da Argentina, de apenas um touro de elite de AA. Na necropsia, um dos bezerros apresentava atrofia muscular grave, artrogripose afetando todos os quatro membros e a coluna vertebral, cifoscoliose e torcicolo. A histopatologia demonstrou atrofia muscular com acentuadas variações no tamanho das fibras e abundantes fibras fibroadiposas. O sistema nervoso central apresentava apenas congestão e edema devido à distocia, enquanto os nervos periféricos e o número de neurônios motores na medula espinhal pareciam normais. A análise de DNA confirmou artrogripose múltipla congênita. Concluiu-se que a doença em bovinos Aberdeen Angus se deve a falha na junção neuromuscular.(AU)

Distrofia corneal de Meesmann en paciente con queratotomía hexagonal / Meesmann corneal dystrophy in a patient with hexagonal keratotomy

RESUMEN Las distrofias corneales constituyen un grupo de enfermedades hereditarias que suelen ser bilaterales y simétricas, las cuales progresan lentamente y sin relación con factores ambientales o sistémicos. Se presenta una paciente de raza blanca, de 45 años de edad, remitida al Servicio de Córnea del Instituto Cubano de Oftalmología "Ramón Pando Ferrer", quien refirió sensación de cuerpo extraño, sensibilidad a la luz y mala visión de ambos ojos, así como antecedente de queratotomía hexagonal hacía aproximadamente 20 años. En lámpara de hendidura se observaron en el epitelio numerosas lesiones puntiformes en forma de vesículas claras, semejantes a ampollas, distribuidas paracentralmente, que respetaban ligeramente el centro, con espacios de córnea transparente entre ellas y mejor visibilidad de las lesiones en retroiluminación. En la microscopia confocal se observaron en el ojo derecho estructuras redondas u ovales, de forma quística, hiporreflectivas. En el ojo izquierdo se encontraron imágenes difusas hiperreflectivas en el epitelio corneal basal. Se detectó la presencia de nervios corneales tortuosos, de aspecto fragmentado en ambos ojos. Se consideró como diagnóstico la distrofia de Meesmann y se realizó queratectomía superficial, con lo cual se logró alivio de la sintomatología de la paciente(AU)

ABSTRACT Corneal dystrophies are a group of hereditary diseases often bilateral and symmetrical which progress slowly and without any relationship to environmental or systemic factors. A case is presented of a white 45-year-old female patient referred to the Cornea Service of Ramón Pando Ferrer Cuban Institute of Ophthalmology, who reported a foreign body sensation, light sensitivity and poor vision in both eyes, as well as a history of hexagonal keratotomy from approximately 20 years before. Slit lamp examination revealed numerous punctiform lesions in the form of clear blister-like vesicles distributed paracentrally and slightly sparing the center, with transparent cornea spaces between them and better visibility of the lesions under retroillumination. Confocal microscopy showed round or oval cystic and hyporeflective structures in the right eye, whereas the left eye exhibited diffuse hyperreflective images in the basal corneal epithelium. Tortuous corneal nerves of a fragmented appearance were detected in both eyes. A Meesmann dystrophy diagnosis was considered and superficial keratectomy was performed, with which the patient's symptoms were relieved(AU)

Malformation of the tail in Labrador Retriever dogs caused by mutation C189G in the T gene / Malformação da cauda em cães da raça Labrador Retriever causada por mutação C189G no gene T

The present study reported the mutation C189G in the T gene (Brachyury gene) as the cause of malformation in the tail of the Labrador dog. One litter of Labradors, from a mating between a female with short tail and a male with normal tail admitted at the Veterinary Teaching Hospital of Universidade Federal de Mato Grosso do Sul, Campo Grande, Brazil, was evaluated in this study. Blood samples were collected from the female and her puppies. After DNA extraction, sequencing and PCR-RFLP were carried out. The C189G mutation was identified through both techniques only in dogs with short tail.(AU)

No presente trabalho relata-se a mutação C189G no gene T (Brachyury gene) como causa da malformação da cauda em cães da raça Labrador. Uma ninhada de labradores, provenientes do acasalamento entre uma fêmea com a cauda curta e um macho com a cauda normal, encaminhados ao Hospital Veterinário da Universidade Federal de Mato Grosso do Sul, Campo Grande, Brasil, foi avaliada nesse estudo. Amostras de sangue da cadela e filhotes foram coletadas. Após extração de DNA, sequenciamento e PCR-RFLP foram realizados. A mutação C189G foi identificada por meio de ambas as técnicas apenas nos cães com a cauda malformada.(AU)

Cisto ducto tireoglosso: relato de caso e revisão de literatura / Thyroglossal duct cyst: case report and literature review

O cisto do ducto tireoglosso acomete principalmente crianças em idade pré-escolar, sendo uma das lesões mais comuns da linha média do pescoço. O presente artigo apresentará um caso de paciente com cisto do duto tireoglosso com diagnóstico realizado somente na adolescência, objetivando mostrar a importância do diagnóstico precoce desta patologia pelo risco de malignização da mesma.

The thyroglossal duct affects mainly children in preschool age, one of the most common injuries of the midline of the neck. This article will present a case of a patient with thyroglossal duct cyst with diagnosis performed only in adolescence, aiming to show the importance of early diagnosis of this pathology at risk of malignant transformation of it.

Karyotype Analysis/Genetic Testing in Children Suspected with Hereditary Disease / 中国康复理论与实践

Objective To apply karyotype analysis/genetic testing in children suspected with hereditary disease. Methods From July, 2014 to July, 2016, a total of 47 cases in our department were tested using G-banding karyotype analysis or selected the relevant genetic package, for screening the related diseases. Results 38 cases received karyotype analysis, in which three cases were abnormal, and one case was diagnosed definitely. And nine cases received related genetic testing, in which seven cases were abnormal, and four cases were diag-nosed definitely. Totally, the positive rate was 21.28%, and the diagnosis rate was 10.64%. Conclusion Karyotype analysis/genetic testing is an etiological diagnosis method for highly suspected hereditary disease in children.

Visual impairment and blindness among the students of blind schools in Allahabad and its vicinity: A causal assessment.

Background/Aims: Information on eye diseases in blind school children in Allahabad is rare and sketchy. A cross-sectional study was performed to identify causes of blindness (BL) in blind school children with an aim to gather information on ocular morbidity in the blind schools in Allahabad and in its vicinity. Study Design and Setting: A cross-sectional study was carried out in all the four blind schools in Allahabad and its vicinity. Materials and Methods: The students in the blind schools visited were included in the study and informed consents from parents were obtained. Relevant ocular history and basic ocular examinations were carried out on the students of the blind schools. Results: A total of 90 students were examined in four schools of the blind in Allahabad and in the vicinity. The main causes of severe visual impairment and BL in the better eye of students were microphthalmos (34.44%), corneal scar (22.23%), anophthalmos (14.45%), pseudophakia (6.67%), optic nerve atrophy (6.67%), buphthalmos/glaucoma (3.33%), cryptophthalmos (2.22%), staphyloma (2.22%), cataract (2.22%), retinal dystrophy (2.22%), aphakia (1.11%), coloboma (1.11%), retinal detachment (1.11%), etc. Of these, 22 (24.44%) students had preventable causes of BL and another 12 (13.33%) students had treatable causes of BL. Conclusion: It was found that hereditary diseases, corneal scar, glaucoma and cataract were the prominent causes of BL among the students of blind schools. Almost 38% of the students had preventable or treatable causes, indicating the need of genetical counseling and focused intervention.

Doenças hereditárias e defeitos congênitos diagnosticados em búfalos (Bubalus bubalis) no Brasil / Hereditary diseases and congenital defects diagnosed in water buffalo (Bubalus bubalis) in Brazil

A review on hereditary diseases and/or congenital defects diagnosed in water buffaloes in Brazil is performed. The epidemiological, clinical and pathological aspects of each disease or group of diseases are briefly described. Hereditary diseases include acantholytic mechanobullous dermatosis, arthrogryposis, myotonia, hydranencephaly, chondrodysplasia, and albinism. Congenital defects of unknown cause include megaesophagus, heart defects (patent ductus arteriosus), dermatosparaxia, and different defects of the reproductive system. The breeds most affected by genetic diseases are those from Asian Continent (Murrah and Jafarabadi), probably as a result of inbreeding in Brazilian herds due the prohibition of importation of breeding buffalo from that continent. The diagnosis of two hereditary diseases, arthrogryposis and myotonia, in Rio Grande do Sul (southern Brazil) and Pará (nothern Brazil) suggests that the undesirable genes are widespread in the buffalo population. The identification of these genes by molecular techniques associated with the buffalo breeding with correct sanitary, zootechnical, and reproductive control practices can decrease the negative effects of genetic diseases in the Brazilian buffalo herd.

É realizada uma revisão sobre as doenças hereditárias e/ou defeitos congênitos diagnosticados em búfalos no Brasil. São descritos brevemente os aspectos epidemiológicos, clínicos e patológicos de enfermidades hereditárias ou provavelmente hereditárias já observadas no Brasil, como dermatose mecanobolhosa, artrogripose, miotomia, hidranencefalia, condrodisplasia e albinismo; e dos defeitos congênitos que não tem uma causa ainda comprovada como megaesôfago, defeitos cardíacos (persistência do ducto arterioso), dermatosparaxia, defeitos no sistema reprodutivo e outros defeitos. Observou-se que as raças mais afetadas por enfermidades de natureza genética são as que têm origem no Continente Asiático (Murrah e Jafarabadi), provavelmente em consequência da consanguinidade existente nos rebanhos devido a proibição da importação de reprodutores, sêmen e embriões daquele continente. O diagnóstico de duas dessas doenças, artrogripose e miotomia hereditária no Rio Grande do Sul e no Pará, demonstra que os genes indesejáveis estão disseminados na população de búfalos no país e que a identificação desses genes por meio de técnicas moleculares associada à criação desta espécie com maior controle sanitário, reprodutivo e zootécnico pode minimizar os prejuízos decorrentes dessas enfermidades à bubalinocultura.

Osteogénesis imperfecta, reporte de un caso / Osteogenesis imperfecta, a case report

INTRODUCCIÓN: La osteogénesis imperfecta (OI) es un trastorno hereditario del tejido conectivo fenotípicamente heterogéneo. Formas leves de OI suelen presentar fragilidad ósea mínima y estatura normal pudiendo manifestarse sólo por osteoporosis precoz o pérdida mineral ósea grave posmenopáusica. El cuadro moderado - severo presenta fracturas múltiples con trauma mínimo (o nulo) y deformidades óseas de grado variable. Forma más severa produce la muerte en el período perinatal. PRESENTACIÓN DEL CASO: Lactante varón 2 años 7 meses, nacido de término por parto normal, pequeño para edad gestacional severo, primogénito de madre adolescente y padre con antecedente OI. Se mantuvo hospitalizado para control de crecimiento ponderal, no encontrándose patología agregada. Tras alta, paciente fue citado a policlínico de genética por antecedente OI, sin asistir. Al año de edad, fue derivado por fractura fémur derecho posterior a trauma aparentemente mínimo, hospitalizándose para manejo con observación de OI y probable violencia intrafamiliar. Primera evaluación genética no impresionó OI, luego endocrinología solicitó estudio bioquímico y radiológico completo ambulatorio. Posteriormente, consultó por fractura fémur izquierdo con fractura tibial derecha previamente no diagnosticada. Tras reevaluación genética, destacaban retraso de talla y múltiples dismorfias corcordantes, diagnosticándose OI leve-moderada por clínica y antecedente familiar. Equipo endocrinología inició tratamiento con bifosfonatos. Evoluciona con fractura codo y nueva fractura fémur derecho tras caída. DISCUSIÓN: La OI es una patología frecuente con manifestaciones heterogéneas con diagnóstico sencillo ante fragilidad ósea, manifestaciones extraesqueléticas e historia familiar positiva. El diagnóstico y tratamiento oportuno permitirían minimizar complicaciones y maximizar capacidad funcional.

INTRODUCTION: The osteogenesis imperfecta (OI) is a phenotypically heterogeneous hereditary connective tissue disease. The mild forms of OI tends to show minimum fragility on bones and normal height which could only be manifested as an early osteoporosis or serious postmenopausal bone density loss. The severe clinic picture shows multiple fractures with minimum trauma and bone deformity. The most severe form causes perinatal death. CASE REPORT: A breastfed infant boy of two years and seven months, born by natural birth, very small for gestational age, first born of a teenage mother and a father with OI. He was, first hospitalized for weight and growth control. No pathological findings were recognized. After the discharge, he did not attend to the genetic control. At one year old, he was sent with a right femur fracture after a minimum trauma. He was hospitalized suspecting OI and possible domestic violence. A first genetic evaluation did not match with OI, then endocrinology requested a complete radiological study. The biochemical study was normal. Then, he presented left femur and right tibia fracture. The genetic reevaluation, found multiple dysmorphic characteristic and late size development, which confirmed a mild form of OI. A biphosphonates treatment was initiated. DISCUSSION: The OI is a frequent disease with heterogeneous manifestations. The diagnosis is simple, bases on bone fragility, extra skeletal manifestations and familiar history. An early diagnosis and treatment could minimize complications and maximize mobility and functional capacity.

Defeitos congênitos diagnosticados em ruminantes na Região Sul do Rio Grande do Sul / Congenital defects in ruminants in southern Brazil

Congenital defects in cattle, sheep and buffalo were studied through a review of necropsy files of the Regional Diagnostic Laboratory of the Veterinary Faculty at the Federal University of Pelotas between 1978 and 2009. The occurrence of congenital defects in cattle, sheep and buffalo were 0.88 percent, 0.36 percent, and 7.54 percent, respectively, from all specimens received. Cattle congenital defects of undetermined etiology represented 45.83 percent of the congenital defects, known hereditary and probably hereditary diseases represented 6.25 percent, and 29.16 percent, respectively, and defects associated to environmental factors represented 16.66 percent. In cattle, of the 48 congenital defects observed 21 (43.75 percent) affected the skeletal system (chondrodysplasia, scoliosis, lateral deviation of the mandible, palatoschisis and unclassified defect), nine (18.75 percent) affected the central nervous system (hypoplasia of olfatory and frontal lobes, cerebellar cortical degeneration, spina bifida, congenital hypomielinogenesis, hereditary hypermetria, cerebellar hypoplasia, and pachygiria), nine (18.75 percent) the muscular system (arthrogryposis), three (6.25 percent) the cardiovascular system (patent ductus arteriosus and unclassified malformation), one (2.08 percent) the lymphatic system (hereditary lymphatic hypoplasia), one (2.08 percent) the alimentary system (atresia ani), and one (2.08 percent) the eye (congenital blindness). In five cases (10.41 percent) different systems were affected (diprosopus). Different hereditary diseases (hereditary hypermetry, arthrogryposis, and lymphatic hypoplasia) or diseases suspected of being hereditary (chondrodysplasia) were diagnosed in cattle. Also occurred, with less frequency, congenital defects associated with environmental factors (hypomyelinogenesis due to cooper deficiency) or probably environmental factors (cleft palate, cerebellar hypoplasia, and cerebellar cortical degeneration). In sheep all observed defects were sporadic and affected various systems (anomalous twins and aprosopia). In buffalo all congenital defects were hereditary (arthrogryposis, myotonia and mechano-bullous genodermatoses) or suspected of being hereditary (albinism, megaesophagus and hydranencephaly/cerebellar hypoplasia). It is concluded that sporadic congenital defects are not important in the three species studied. Despite the low frequency congenital defects associated with environmental factors could be important in some regions or farms. Hereditary or probably hereditary diseases are important, not only by the mortality rates, but also because the risk of dissemination of the genes in the different breeds. In water buffalo the high prevalence of hereditary diseases was a consequence of the high consanguinity of the Brazilian buffalo population. Control measures need to be taken to avoid the spread of recessive genes in cattle and buffalo.

Foi realizado um estudo dos defeitos congênitas diagnosticados em bovinos, ovinos e bubalinos mediante revisão dos protocolos de necropsia do Laboratório Regional de Diagnóstico da Faculdade de Veterinária da Universidade Federal de Pelotas entre 1978 e 2009. A ocorrência de defeitos congênitos em bovinos, ovinos e bubalinos representou 0,88 por cento, 0,36 por cento e 7,54 por cento respectivamente, de todos os materiais dessas espécies recebidos. Em bovinos os defeitos esporádicos representaram 45,83 por cento dos diagnósticos, os hereditários 6,25 por cento, os provavelmente hereditários 29,16 por cento e os ambientais ou provavelmente ambientais 16,66 por cento. Dos 48 casos de defeitos congênitos diagnosticados em bovinos 21 (43,75 por cento) afetaram o sistema esquelético (condrodisplasia, escoliose, desvio lateral da mandíbula, fenda palatina e malformação não classificada), nove (18,75 por cento) o sistema nervoso central (hipoplasia dos lobos frontais e olfatórios, degeneração cerebelar cortical, espinha bífida, hipomielinogênese congênita, hipermetria hereditária, hipoplasia cerebelar e paquigiria), nove (18,75 por cento) o sistema muscular (artrogripose), três (6,25 por cento) o sistema cardiovascular (persistência do ducto arterioso e malformação não classificada), um (2,08 por cento) o sistema linfático (hipoplasia linfática), um (2,08 por cento) o sistema gastrintestinal (atresia anal), e, um (2,08 por cento) o olho (catarata congênita). Em cinco casos (10,41 por cento) vários sistemas estavam afetados (diprosopo). Em bovinos foram diagnosticadas diversas doenças hereditárias (hipermetria hereditária, artrogripose, hipoplasia linfática) ou suspeitas de serem hereditárias (condrodisplasia). Ocorreram, também, com menor freqüência, defeitos congênitos de origem ambiental (hipomielinogenese, por carência de cobre) ou possivelmente ambiental (fenda palatina, hipoplasia cerebelar, degeneração cerebelar cortical). Todos os casos de defeitos congênitos observados em ovinos (gêmeos anômalos e aprosopia) afetaram vários sistemas e eram esporádicos. Em bubalinos todas as malformações diagnosticadas são hereditárias (artrogripose, miotonia e dermatose mecânico-bolhosa) ou suspeitas de serem hereditárias (albinismo, megaesôfago e hidranencefalia/hipoplasia cerebelar). Concluiu-se que os defeitos congênitos esporádicos têm pouca importância nas três espécies e que defeitos congênitos de causas ambientais, apesar de pouco freqüentes, podem trazer prejuízos econômicos importantes em determinadas regiões ou estabelecimentos. As doenças hereditárias são importantes não só pela mortalidade mas, também, pela possibilidade de disseminação de genes indesejáveis nas diferentes raças. Em bubalinos a alta frequência de doenças hereditárias na raça Murrah foi atribuída a alta consanguinidade do rebanho brasileiro. Medidas de controle devem ser tomadas para evitar-se a contínua disseminação, principalmente dos genes recessivos, em bubalinos e bovinos.

Estudio clínico y genético del síndrome de Moebius / Clinic and genetic study of Moebius syndrome

Introducción. Objetivo: analizar las manifestaciones clínicas fundamentales del síndrome de Moebius, su involucro genético y los factores que en nuestro medio se relacionan con esta entidad. Métodos. En un estudio retrospectivo y descriptivo se analizaron los datos clínicos y de anamnesis familiar de 23 casos de niñas y niños con síndrome de Moebius, vistos en el Hospital del Niño de Villahermosa, Tabasco, en los últimos 20 años. Los criterios para el diagnóstico se establecieron con base a las manifestaciones clínicas, considerándose para ello a la inexpresividad facial, alteración de la succión y cierre palpebral incompleto con deficiente o nula visión lateral. Resultados. La inexpresividad facial, la ptosis palpebral, pabellones auriculares grandes y la microglosia fueron los datos clínicos más representativos. En 2 pacientes se documentó la secuencia de Poland como entidad asociada. El análisis cromosómico realizado en 11 de los casos mostró normalidad cromosómica en el número y en la estructura. Todos los pacientes estudiados representaron casos esporádicos. Conclusión. El diagnóstico temprano de la secuencia de Moebius favorece la planeación en el manejo del enfermo, y al mismo tiempo ofrece a los padres de los afectados un asesoramiento genético oportuno.

Introduction. Objective: to analyze the fundamental clinical manifestations of the Moebius syndrome, and the genetic factors related to this pathology. Methods. In a retrospective descriptive study the clinical data and familiar anamnesis of 23 cases of girls and boys with Moebius syndrome attended in Children's Hospital of Villahermosa, Tabasco over the last 20 years, were analyzed. The criteria for the diagnosis were done on the basis of clinical manifestations, which included face inexpressiveness, alteration of the suction, and incomplete palpebral closure with partial or non-lateral vision. Results. Face inexpressiveness, palpebral ptosis, big auricular pavilions and microglossia were the most representative clinical data. Two patients had Poland sequence in association to this pathology. Chromosomal analysis of the 11 cases showed normality in number and structure. All the studied patients represented sporadic cases. Conclusion. An early diagnosis of Moebius syndrome favors an optimal patient management as well as an opportune genetic counseling.

Reporte de un caso de pentalogía de Cantrell / Pentalogy of Cantrell: A case report

Introducción. La pentalogía de Cantrell es un padecimiento congénito raro; reportados 90 casos en la literatura y descrito por Cantrell-Heller-Ravitch, se caracteriza por: hernia diafragmática anterior, onfalocele, pericardio diafragmático, anomalías congénitas intracardiacas y tercio inferior del esternón. Caso clínico. Recién nacida (RN) femenina de término, eutrófica, producto de la cuarta gestación, madre de 36 años, originaria de Guadalajara y residente de Pto. Vallarta. Antecedentes de: tabaquismo y alcoholismo, asmática tratada con salbutamol durante la gestación, infección de vías urinarias y cervicovaginitis tratada, preeclampsia 4 meses previos al parto, sin manejo, diagnosticada por ecosonograma obstétrico a las 35.2 semanas de gestación con presencia de onfalocele y ectopia cordis; interrumpiendo la gestación vía abdominal, obteniéndose RN con los defectos mencionados, además de cardiopatía intracardiaca (atresia pulmonar, transposición de vasos, comunicación interventricular e interauricular). Falleció a los 5 días de vida. Conclusión. Los casos de supervivencia reportados en la literatura son excepcionales (variantes no graves), siendo las cardiopatías determinantes del pronóstico.

Introduction. The pentalogy of Cantrell is a infrequent congenital syndrome. There are 90 cases reported in the literature, described by Cantrell-Heller-Ravitch and characterized by hernia of the anterior diaphragm, omphalocele, diaphragmatic pericardium, congenital heart defect and in the lower sternum. Case report. Female newborn delivered at term, product of the 4th pregnancy from a 36 year-old mother with history of smoking and alcoholism, asthma treated with salbutamol during pregnancy, urogenital tract infection treated, preeclampsia in the 4th month of gestation non-treated. Diagnosis by ultrasound at 35.2 weeks of pregnancy of omphalocele and ectopia cordis; abdominal delivery of the newborn with the defects described above, associated with intracardiac lesions: pulmonary atresia, vascular transposition, ventricular septal defect and atrial septal defect. The infant died on the 5th day. Conclusion. The survival rate in cases reported in literature is rare and depends on the complexity of the cardiac defect.

Identify the \xdf-thalassemia mutation spectrum in the North of Vietnam

Background: \u03b2-thalassemia is a hereditary disease caused by disorder in \u03b2-globin chain synthesis process. In this research, multiplex-PCR was used in combination with blood chemistry assays and clinical symptoms to detect \u03b2-globin mutations. Objectives: (1) to identify the \u03b2-thalassemia mutation spectrum in the North of Vietnam; (2) to determine the relation between biochemistry values and types of mutations. Subject and methods: Blood samples collected from 60 pediatric patients were used in screening assays (hemoglobin counting, red blood cell counting, hematocrit\ufffd? and multiplex-PCR to detect 6 point mutations with high prevalence in the region. Results: \r\n', u'(1) Of 60 blood samples collected from pediatric patients, 30 (50%) had mutation in codon 17 (A\u2192T), 6 (10%) had a frameshift mutation in codons 41/42 and 4 (6%) had both types of these mutations; (2) The average onset time in patients with FS 41/42 mutation was earlier than that of patients with codon 17 (A\u2192T) mutation, whereas transfusion interval did not differ significantly among these patients; (3) Mean corpuscular volume (MCV) was lower in patients with homozygous mutations (\u03b2o) (average 64.8) than in those with heterozygous mutations (\u03b2+) (average 72.7). Conclusions: (1) multiplex-PCR is an effective technique in identifying the mutation spectrum of \u03b2-globin gene in the North of Vietnam; (2) Biochemistry assays should be associated with molecular techniques in diagnose of \u03b2-thalassemia\r\n', u'\r\n', u'\r\n', u'

Study on imaging feature and interventional treatment of Chinese familial Budd Chiari syndrome / 中华放射学杂志

Objective To investigate the imaging feature of Chinese familial BCS, and to evaluate the efficacy of interventional treatment for Chinese familial BCS. Methods Angiography was taken in 4 familial BCS patients(from families A and B), and PTA was attempted in 2 of 4 patients, stents were placed in another 2 patients. Results Sisters in family A and sisters in family B had membranous obstruction of the inferior vena cava(MOVC) and segmental obstruction of the inferior vena cava(SOVC), respectively. PTA was attempted in younger sisters of the two families, stent was implanted in elder sisters of the two families. Patency of inferior vena cava and clinical symptom improvement were noted in 4 patients after interventional treatment. Restenosis was detected by angiography in sisters of family A after follow up 2 years later, and stenting was performed in the elder sister, PTA was performed in the younger sister once again. The elder sister was dead after the second stenting, and the younger sister had no symptom up to now. Sisters in family B had no restenosis after 4 years′ follow up. Conclusion 1.Lesion types of Chinese familial BCS were varied. 2.Vena cava thrombosis is the etiology of Chinese familial BCS .3.PTA, stenting and long time anticoagulation treatment may be effective methods in the treatment of familial BCS.

Analysis of Hereditary Types and Clinical Features with Anhidrotic Ectodermal Dy splasia / 中华皮肤科杂志

Objective To analyze genetic types and clinical features with anhi drotic ectodermal dysplasia (EDA). Methods The genetic types and clinical manife stations of 35 patients with EDA in five families were analyzed by genealogical investigation and clinical examination. Results① All patients were males in fam iliesⅠ ,Ⅱ ,Ⅳ andⅤ . The females in these families were recessive carriers. T herefore, the genetic types were X linked EDA. There were 8 males and 6 female s in familyⅢ . The proportion of males to females approximated to 1∶ 1, indica ting autosomal dominant inheritant EDA.② In families with X linked EDA, Types Ⅰ andⅡ were divided according to clinical manifestations of the families. The patients in familiesⅠ andⅣ belonged to typeⅠ , with the characteristics of sp ecial appearances, such as defects in the development of hair and sweat glands, hypophrenia and bad sights. Intelligence and physical development were lower tha n those of general population. However, the patients in familiesⅡ andⅤ belonge d to typeⅡ . It was characterized by sparse hair, hypohidrosis and inborn teeth less or teeth dysplasia. Intelligence and physical development were the same as general population. In the family with autosomal dominant inheritant EDA, patien ts manifested hypohidrosis only, and had no other characteristics.③ Histopathol ogy showed defects in the development of hair follicles and sweat glands in pati ents with X linked EDA, but dysplasia of sweat glands and congenital defect of hair follicles in patients with autosomal dominant inheritant EDA. Conclusion T here are variations in hereditary types and clinical manifestations of patients with EDA.

Analyses of Genetic Epidemiology of Psoriasis Vulgaris / 中华皮肤科杂志

Objective To investigate the effects of genetic factors on the onset of psoriasis. Methods Seven hundred and twenty patients with psoriasis vulgaris were studied by questionnaire. Results① For the male and female patients, the peak ages of the first onset were 20～ 29 and 10～ 19 years, respectively, and the average ages were 27.57? 12.18 and 23.01? 12.40 years, respectively.② In 720 psoriatics, 212 cases (29.4％ ) reported to have a family history of psoriasis. The age of onset was earlier in man with family history than that in man without family history (P0.05).④ The heritabilities of psoriasis were 71.07％? 2.05％ in first degree relatives and 36.77％? 5.17％ in second degree relatives. Conclusion The results show that psoriasis vulgaris may be a multigenic inheritable disease, and the genetic factors play an important role in the pathogenesis.

The clinical characteristics, electroneurophysiology and pathology of hereditary neuropathy with liability to pressure palsies: two cases of one pedigree / 解放军医学杂志

Objective To elucidate the clinical, electrophysiological, neuropathological features of two cases of hereditary neuropathy with liability to pressure palsies (HNPP) in one pedigree, and to review the literature of HNPP, so as to promote the understanding and diagnostic acuity of the disease. Methods Detailed electromyogram, motor and sensory conduction velocity, and distal motor latency were measured for clinically affected and unaffected nerves in the two patients. Sural nerve biopsy was performed for case one and the specimen was observed under light microscope and elcctronmicroscope. The cases reported in China up to the present were collected. Results Case one was an 18 year old male with a 9 year history of recurrent weakness and numbness of limbs precipitated by compression or stretch. Case two was his father. Although he had not experienced clinical episode of limb weakness and numbness, physiological examination revealed signs of peripheral neuropathy. Eletrophysiological study demonstrated diffuse peripheral nerve damage with decreased nerve conduction velocity, delayed distal motor latency, especially a decrease in motor conduction velocity at common entrapment sites, including clinical unaffected nerves. Sural nerve biopsy showed that myelin sheath of most myelinated fibers with normal axons was thickened. Some thickened myelin sheath was seen to invaginate into the axon. No onion bulb was found and unmyelinated fibers were relatively normal. Only 9 cases of HNPP were reported in China, but no DNA analysis was performed for any of them. Conclusions HNPP is a rare disease with autosomal dominant inheritance. Nerve conduction study is an important diagnostic method for screening. Its definite diagnosis relies on the typical pathological findings in nerve biopsy specimen. Sural nerve biopsy could be avoided for diagnosis if the family history were positive and nerve conduction study should show diffuse peripheral nerve damage