Seasonality of hydrogeochemical evolutions and isotopic variabilities (δ18O, δ2H and d-excess) in the surface water as well as groundwater from tropical central-south Mexico.

Due to adverse impact of the global warming on hydrological resources, we intended to document the hydrogeochemical evolutions of surface and groundwater at tropical central-south Mexico in terms of seasonality of rock-water interaction, precipitation/evaporation variation and moisture source by evaluating the major ion chemistry in Piper and Gibbs plots, Durov diagram and through estimation of the chloro-alkaline indices as well as assessing the stable isotope compositions (δ18O and δ2H) in samples from different seasons of a year. Surface water of the Lake Coatetelco shifted from mostly Ca-Mg-HCO3 facies in wet summer-autumn to Na-HCO3-Cl facies in the dry spring due to elevated Na, Cl and HCO3. Greater evaporation in spring led to a maximum δ18O enrichment of ca.7‰ compared to the other seasons, and much depleted deuterium excess (-40.92‰ to -39.20‰). Interaction of the lake water with subsurface carbonate lithologies, and comparable isotopic compositions reflected the enhanced interaction between the surface water body and aquifers in the wet autumn. Effect of seasonality, however, was unclear on the groundwater facies, and its heterogenous composition (Ca-Mg-HCO3, Na-HCO3-Cl and Na-HCO3) reflected the interactions with different lithologies. Fractionations in isotope compositions of the groundwater were caused from recharge at different elevations, seasonality of moisture sources and moisture recycling. The water-mineral saturation index was an efficient proxy of seasonality as the lake water and groundwater (avg SIcalcite > 0.5) of the dry autumn were saturated with calcite. This vital information about carbonate precipitation, pCO2 and chemical facies would be useful for the better interpretation of paleoclimate archives in this region.

Assessment the Impacts of Sea-Level Changes on Mangroves of Ceará-Mirim Estuary, Northeastern Brazil, during the Holocene and Anthropocene.

Predictions of the effects of modern Relative Sea-Level (RSL) rise on mangroves should be based on decadal-millennial mangrove dynamics and the particularities of each depositional environment under past RSL changes. This work identified inland and seaward mangrove migrations along the Ceará-Mirim estuary (Rio Grande do Norte, northeastern Brazil) during the mid-late Holocene and Anthropocene based on sedimentary features, palynological, and geochemical (δ13C, δ15N, C/N) data integrated with spatial-temporal analysis based on satellite images. The data indicated three phases for the mangrove development: (1°) mangrove expansion on tidal flats with estuarine organic matter between >4420 and ~2870 cal yrs BP, under the influence of the mid-Holocene sea-level highstand; (2°) mangrove contraction with an increased contribution of C3 terrestrial plants between ~2870 and ~84 cal yrs BP due to an RSL fall, and (3°) mangrove expansion onto the highest tidal flats since ~84 cal yr BP due to a relative sea-level rise. However, significant mangrove areas were converted to fish farming before 1984 CE. Spatial-temporal analysis also indicated a mangrove expansion since 1984 CE due to mangrove recolonization of shrimp farming areas previously deforested for pisciculture. This work mainly evidenced a trend of mangrove expansion due to RSL rise preceding the effects of anthropogenic emissions of CO2 in the atmosphere and the resilience of these forests in the face of anthropogenic interventions.

Skull anatomy of the endangered Patagonian huemul deer(Hippocamelus bisulcus).

Studies of the normal skull anatomy of the Patagonian Huemul deer are scarce. Currently, the findings of bone lesions in the skull associated with metabolic imbalances are frequent in the literature. The objective of this study was to provide anatomical and morphometric data of the cranium and facies including a morphofunctional interpretation as a reference for clinical, ecomorphological and educational purposes. Five skulls were described, measured, scanned and digitally reconstructed. The presence of a caudal projection of the vomer bone, the absence of the facial tubercle and thin bones forming the cranial cavity were observed. Linear measurements allowed the skull to be classified as dolichocephalic, hyperlepten and ultra-dolichocranial. In conclusion, the Patagonian Huemul has a long head, an extremely long skull and a very narrow face. The thickness of the bones that made up the walls of the cranial cavity suggests chronic metabolic imbalances in response to mineral deficiency. The anatomical and morphometric data obtained in this study strongly emphasizes the relevance of considering the implementation of such management policies that aim at promoting an optimal nutritional context.

Caracterização hidrogeoquímica de águas subterrâneas utilizadas para abastecimento público na porção nordeste do Sistema Aquífero Guarani / Hydrogeochemical characterization of groundwater for public supply in the Northeastern portion of the Guarani Aquifer System

RESUMO O Sistema Aquífero Guarani (SAG) compreende um dos mais importantes aquíferos do mundo, tanto pela grande reserva quanto pela qualidade de suas águas subterrâneas. Entretanto, nem todas as regiões, nas quais o SAG é utilizado no abastecimento público, possuem estudos a respeito do quimismo de suas águas e de sua associação com a geologia. Este trabalho apresenta a caracterização hidrogeoquímica das águas subterrâneas do SAG utilizadas no abastecimento público em São Carlos, São Paulo, região nordeste do SAG, por meio de amostras provenientes de 27 poços tubulares profundos. A captação de água subterrânea é proveniente principalmente do SAG. Entretanto, também é possível verificar a presença das formações Botucatu, Piramboia, Serra Geral, Itaqueri, Adamantina e sedimentos cenozoicos. Apesar de pouco mineralizadas, verifica-se variabilidade iônica na composição das águas subterrâneas, evidenciada na distribuição espacial da condutividade elétrica na área de estudo. Os resultados hidroquímicos apontam para a existência de quatro fácies hidroquímicas: bicarbonatadas mistas, bicarbonatadas cálcicas, bicarbonatadas sódicas e sódica fluoretada, em ordem decrescente de representatividade. A heterogeneidade geológica interfere na concentração de íons na água, por meio da dissolução mineral, e possibilita a mistura das águas subterrâneas. A análise de componentes principais constatou que 62,7% da variabilidade total do conjunto amostral é explicada, principalmente, por dois fatores. O primeiro grupo de variáveis representa 38,7% da variabilidade, atribuída principalmente aos íons provenientes da dissolução de minerais (HCO3−, Ca2+, Na+, Mg2+) e aos parâmetros relacionados a esse processo (pH e condutividade elétrica). O segundo revelou 24% da variabilidade total, que pode estar associado a origens antrópicas, como a presença dos íons Cl−, N-NO3−, SO42-, F− e K+.

ABSTRACT The Guarani Aquifer System (GAS) comprises one of the most important aquifers in the world due to its large water reserve and its groundwater quality. However, some regions that comprise the GAS groundwater for human supply are not thoroughly characterized on water chemistry and its relation with the local geology. This work presents the hydrogeochemical characterization of groundwater from the northeast region of the GAS used for human public supply in São Carlos (São Paulo, Brazil) based on samples from 27 deep boreholes. The groundwater exploration occurs mainly from GAS. However, it is also possible to verify the presence of the Botucatu, Piramboia, Serra Geral, Itaqueri, Adamantina, and Cenozoic sediments. Although little mineralized, there is a large ionic variability in the groundwater composition, also evidenced by spatial distribution of the electrical conductivity in the research area. These results explain four hydrochemical water types: mixed bicarbonate; calcium bicarbonate; sodium bicarbonate; and sodium fluoride, in decreasing order of representativeness. The concentration of ions in groundwater reflects the geological heterogeneity, through mineral dissolution and possible groundwater mixing. A Principal Component Analysis demonstrated that 62.7% of the total sample set variability is explained by two main factors. The first one represents 38.7% of the variability; mainly attributed to ions from minerals dissolution (HCO3−, Ca2+, Na+, Mg2+) and parameters related to this process (pH and electrical conductivity). The second group showed 24.0% of the total variability, which may be associated with anthropic activities origins, such as the presence of Cl−, N-NO3−, SO42-, F−, and K+.

Clinical and Radiological Characterisation of Patients with Mucopolysaccharidosis in a Genetic Clinic

Abstract The mucopolysaccharidoses (MPS) are a relatively uncommon group of inherited metabolic disorders. MPSs should be suspected in a child with coarse facies, organomegaly, recurrent respiratory tract infections, developmental delay, and hernias. Early diagnosis and treatment can greatly improve the quality of life in these children. In this study we studied 46 MPS patients diagnosed on enzyme and/or DNA testing and we found that the MPS II was the most common type followed by MPS I and MPS IVA. While the mean age of onset of symptoms was 12 months, the mean age at diagnosis was 4.5 years, a significant delay. One of major presenting features was recurrent respiratory problems, more prevalent in MPS II cases. Many patients also had short stature and contractures. Increasing awareness among physicians is of paramount importance for the early diagnosis and optimal treatment and prevention by prenatal testing and counselling.

Pregnancy during the course of Cushing's syndrome: a case report and literature review.

SUMMARY: Cushing's syndrome is an endocrine disorder that causes anovulatory infertility secondary to hypercortisolism; therefore, pregnancy rarely occurs during its course. We present the case of a 24-year-old, 16-week pregnant female with a 10-month history of unintentional weight gain, dorsal gibbus, nonpruritic comedones, hirsutism and hair loss. Initial biochemical, hormonal and ultrasound investigations revealed hypokalemia, increased nocturnal cortisolemia and a right adrenal mass. The patient had persistent high blood pressure, hyperglycemia and hypercortisolemia. She was initially treated with antihypertensive medications and insulin therapy. Endogenous Cushing's syndrome was confirmed by an abdominal MRI that demonstrated a right adrenal adenoma. The patient underwent right laparoscopic adrenalectomy and anatomopathological examination revealed an adrenal adenoma with areas of oncocytic changes. Finally, antihypertensive medication was progressively reduced and glycemic control and hypokalemia reversal were achieved. Long-term therapy consisted of low-dose daily prednisone. During follow-up, despite favorable outcomes regarding the patient's Cushing's syndrome, stillbirth was confirmed at 28 weeks of pregnancy. We discuss the importance of early diagnosis and treatment of Cushing's syndrome to prevent severe maternal and fetal complications. LEARNING POINTS: Pregnancy can occur, though rarely, during the course of Cushing's syndrome. Pregnancy is a transient physiological state of hypercortisolism and it must be differentiated from Cushing's syndrome based on clinical manifestations and laboratory tests. The diagnosis of Cushing's syndrome during pregnancy may be challenging, particularly in the second and third trimesters because of the changes in the maternal hypothalamic-pituitary-adrenal axis. Pregnancy during the course of Cushing's syndrome is associated with severe maternal and fetal complications; therefore, its early diagnosis and treatment is critical.

Diagnóstico de lepra en una comunidad ecuatoriana / Diagnosis of leprosy in an Ecuadorian community

Introducción: La lepra es una infección bacteriana compleja causada por el bacilo Mycobacterium leprae, puede causar discapacidad, afecta principalmente a la piel, los nervios periféricos, la mucosa de las vías respiratorias superiores y los ojos. Caso clínico: Paciente de 22 años de edad, con enfermedad de Hansen, facie Leonina, con lesiones nodulares diseminadas en la cara de color violáceo, deformidades en ambas manos, nódulos en ambos brazos y pies y pérdida de la sensibilidad superficial y profunda. Conclusiones: En el Ecuador la Lepra puede ser calificada como de baja endemia, la tasa de detección han ido descendiendo progresivamente en los últimos diez años(AU)

Introduction: Leprosy is a complex bacterial infection caused by the Mycobacterium leprae bacillus. It can cause disability and mainly affects the skin, the peripheral nerves, the mucosa of the upper respiratory tract and the eyes. Case report: 22 years patient with Hansen's disease, Leonine facies, with purplish colour nodular lesions spread out in the face, deformities in both hands, nodules in both arms and feet, and loss of superficial and deep sensitivity. Conclusions: In Ecuador leprosy can be qualified as low endemicity. The detection rate has been falling progressively over the past ten years(AU)

Femoral-facial syndrome: A review of the literature and 14 additional patients including a monozygotic discordant twin pair.

Femoral-facial syndrome (FFS, OMIM 134780), also known as femoral hypoplasia-unusual face syndrome, is a rare sporadic syndrome associated with maternal diabetes, and comprising femoral hypoplasia/agenesis and a distinct facies characterized by micrognathia, cleft palate, and other minor dysmorphisms. The evaluation of 14 unpublished Brazilian patients, prompted us to make an extensive literature review comparing both sets of data. From 120 previously reported individuals with FFS, 66 were excluded due to: not meeting the inclusion criteria (n = 21); not providing sufficient data to ascertain the diagnosis (n = 29); were better assigned to another diagnosis (n = 3); and, being fetuses of the second trimester (n = 13) due to the obvious difficult to confirm a typical facies. Clinical-radiological and family information from 54 typical patients were collected and compared with the 14 new Brazilian patients. The comparison between the two sets of patients did not show any relevant differences. Femoral involvement was most frequently hypoplasia, observed in 91.2% of patients, and the typical facies was characterized by micrognathia (97%), cleft palate (61.8%), and minor dysmorphisms (frontal bossing 63.6%, short nose 91.7%, long philtrum 94.9%, and thin upper lip 92.3%). Clubfoot (55.9%) was commonly observed. Other observed findings may be part of FFS or may be simply concurrent anomalies since maternal diabetes is a common risk factor. While maternal diabetes was the only common feature observed during pregnancy (50.8%), no evidence for a monogenic basis was found. Moreover, a monozygotic discordant twin pair was described reinforcing the absence of a major genetic factor associated with FFS.

Síndrome Rusell Silver. Presentación de caso / Russell-Silver syndrome. Presentation of a case

RESUMEN El síndrome Russell Silver es una enfermedad genética de baja frecuencia, caracterizada por retardo del crecimiento prenatal y postnatal, dismorfias faciales y digitales, así como asimetría corporal. Se presenta una paciente femenina de dos años de edad, remitida a consulta de Genética Clínica, por retardo en el desarrollo pondoestatural psicomotor, dismorfias faciales y asimetría corporal. Se realizño el diagnóstico clínico de esta afección. Es importante establecer un diagnóstico precoz para la estimulación temprana, seguimiento multidisciplinario y se brindó un adecuado asesoramiento genético a los familiares (AU).

ABSTRACT The Russell-Silver syndrome is a low-frequency genetic disease, characterized by a pre-natal growth retardation and postnatal digital and facial dysmorphia, and also body asymmetry. We present a female patient, aged 2 years, who was remitted to the consultation of Clinical Genetics because of a retardation in the psychomotor, height-weight development, facial dysmorphia and body asymmetry. The disease was clinically diagnosed. It is important to arrive to a precocious diagnosis for the early stimulation, multidisciplinary follow-up and adequate genetic advice to the relatives (AU).

¿Facies o impressio en el bazo? / ¿Facies or impressio in the spleen?

Los principios de Terminologia Anatomica establecieron el uso del latín como idioma oficial, un único nombre por término, otorgar valor descriptivo a los términos y eliminación de epónimos. El avance de las ciencias médicas y su relación con las ciencias morfológicas ha requerido nuevas interpretaciones y modificaciones en relación a los términos anatómicos. En el año 2009 se iniciaron los Simposios Latinoamericano de Terminologia Anatomica, Histologica y Embryologica (SILAT), cuya tarea es revisar las terminologías latinas y sugerir la traducción a los idiomas español y portugués. Realizamos un análisis de los términos latinos Facies e Impressio, que significan cara e impresión, respectivamente. En Terminologia Anatomica latina revisamos los términos Facies renallis (A13.2.01.009), Facies gastrica (A13.2.01.010), Facies colica (A13.2.01.011) del bazo, traducidos al español por la Sociedad Anatómica Española (2001), como impresión renal, impresión cólica, impresión gástrica. Debido a lo anterior, realizamos un estudio de la configuración externa del bazo a través de observación directa y de las descripciones en tratados anatómicos. Identificamos la errada traducción del término Facies como impresión. Basándose en la terminología latina de otras estructuras, referidas anatómica y morfológicamente a la marca o estampado que deja una estructura sobre otra como Impressio, sugerimos cambiar en Terminologia Anatomica los términos Facies renallis, Facies gastrica, Facies colica del bazo por Impressio renalis splenis, Impressio gastrica splenis e Impressio colica splenis. El uso de términos anatómicos correctos permitirá una mejor comunicación en el ámbito de la docencia y la investigación científica.

Terminologia Anatomica principles establish the use of Latin as the official language, one single name per term, provide a descriptive value for terms and eliminate eponyms. The advancement of medical science and its relationship with morphological sciences has made necessary new interpretations and amendments in relation to anatomical terms. In 2009 the Latin American Symposium on Anatomy, Histology and Embryology Terminology (SILAT), whose responsibility is to review Latin terminology and suggest and recommend translation into Spanish and Portuguese, was initiated. We conducted an analysis of Facies and Impressio Latin terms meaning face and printing, respectively. In Latin Terminologia Anatomica we reviewed the terms Facies renallis (A13.2.01.009), Facies gastrica (A13.2.01.010), Facies colica (A13.2.01.011) spleen, translated into spanish by the Spanish Anatomical Society (2001) such as kidney printing, colic printing, gastric printing. In view of the above, we conducted a study of the external configuration of the spleen through direct observation and anatomical description treaties. We identified the mistranslation of the term Facies as a print. Based on the Latin Terminology of other structures, which anatomically and morphologically refer to the mark or indentation of one structure over another as Impressio, we suggest a change in Terminologia Anatomica of the terms Facies renallis, Facies gastrica, Facies colica of the spleen for Impressio renalis splenis, Impressio gastrica splenis and Impressio colica splenis. Using correct anatomical terms allows better communication in the teaching and scientific research fields.

Síndrome de hipoplasia femoral y facies inusual: reporte de un caso / Femoral hypoplasia-unusual facies syndrome: A case report

Introducción: El síndrome de hipoplasia femoral y facies inusual es una enfermedad rara con expresividad hereditaria variable, aunque se han reportado casos con un patrón autosómico dominante. Afecta particularmente las estructuras de la cara asociado a hipoplasia de fémur. Si bien su etiología no ha sido bien identificada, se ha asociado con diabetes materna, exposición a drogas, infecciones virales, radiaciones y oligohidramnios. Objetivo: Presentar el caso de una recién nacida con este síndrome. Caso clínico: Recién nacida de 41 semanas de gestación con nariz pequeña, labio superior delgado, micrognatia, filtrum largo, implantación baja de orejas, epicanto, cadera displásica con flexión y aducción de miembro inferior derecho y acortamiento del mismo a expensas del muslo. En la imagen radiográfica se encontró hipoplasia de fémur derecho con techo acetabular ipsilateral displásico. Se realizó una evaluación completa por distintos especialistas que descartaron otras malformaciones asociadas. Se programó el alargamiento quirúrgico de miembros inferiores a la edad de 5 meses con la finalidad de que deambule con sus propios pies; paralelamente se inició apoyo con kinesiterapia. Conclusiones: El síndrome de hipoplasia femoral y facies inusual es un padecimiento poco frecuente, que implica la participación de un equipo médico multidisciplinario para su manejo.

Introduction: Femoral hypoplasia-unusual facies syndrome is a rare disease with variable expressivity, although cases have been reported with an autosomal dominant pattern. It particularly affects the structures of the face associated with hypoplasia of the femur. Its aetiology is relatively unknown. However, this syndrome has been associated with maternal diabetes, drug exposure, viral infections, radiation, and oligohydramnios. Objective: The case of a newborn with this syndrome is presented. Clinical case: Newborn of 41 weeks gestation with small nose, thin upper lip, micrognathia, long philtrum, low set ears, epicanthal folds, dysplastic hips showing flexion, and adduction of the right leg, and shortening at the expense of the thigh. X-ray images revealed femoral hypoplasia and dysplastic acetabular roof. Different physicians from other specialties who excluded other associated malformations performed a complete evaluation. Surgical bone lengthening of lower limb is scheduled at 5 months of age, with the purpose that she walks with her own feet; at the same time she began management with kinesiotherapy. Conclusions: Femoral hypoplasia-unusual facies syndrome is a rare condition. A multidisciplinary health care team must treat individuals with femoral hypoplasia-unusual facies syndrome.

[Femoral hypoplasia-unusual facies syndrome: A case report]. / Síndrome de hipoplasia femoral y facies inusual: reporte de un caso.

INTRODUCTION: Femoral hypoplasia-unusual facies syndrome is a rare disease with variable expressivity, although cases have been reported with an autosomal dominant pattern. It particularly affects the structures of the face associated with hypoplasia of the femur. Its aetiology is relatively unknown. However, this syndrome has been associated with maternal diabetes, drug exposure, viral infections, radiation, and oligohydramnios. OBJECTIVE: The case of a newborn with this syndrome is presented. CLINICAL CASE: Newborn of 41 weeks gestation with small nose, thin upper lip, micrognathia, long philtrum, low set ears, epicanthal folds, dysplastic hips showing flexion, and adduction of the right leg, and shortening at the expense of the thigh. X-ray images revealed femoral hypoplasia and dysplastic acetabular roof. Different physicians from other specialties who excluded other associated malformations performed a complete evaluation. Surgical bone lengthening of lower limb is scheduled at 5 months of age, with the purpose that she walks with her own feet; at the same time she began management with kinesiotherapy. CONCLUSIONS: Femoral hypoplasia-unusual facies syndrome is a rare condition. A multidisciplinary health care team must treat individuals with femoral hypoplasia-unusual facies syndrome.

Prenatal diagnosis of femoral-facial syndrome: case report.

Femoral-facial syndrome (FFS), also known as femoral hypoplasia-unusual facies syndrome, is a rare condition characterized by a variable degree of unilateral or bilateral femoral hypoplasia associated with facial anomalies. This report describes a case of FFS diagnosed after 13 weeks of pregnancy following the detection of severe micrognathia and bilateral shortening of the femur in the fetus of a patient with DM. The sonographic evolution from the first trimester until birth is described. The clinical findings, the differential diagnosis with other pathologies characterized by hypoplasia femoral, and the prognosis are discussed.

Síndrome de Cockayne: relato de dois casos / Cockayne?s syndrome: report of two cases

Objetivos: Relatar casos de síndrome de Cockayne em dois irmãos, descrevendo a apresentação e a evoluçãoclínica.Descrição dos casos: Apresentam-se os casos de dois irmãos, uma menina de 8 anos e um menino de 13 anos, ambos com deficiência global do desenvolvimento, microcefalia, nanismo e facies peculiar (face triangular, microftalmia, microstomia e micrognatia). No seguimento, surgiram novos problemas, como surdez neurossensorial, hipermetropia e fotossensibilidade. Pela clínica foi sugerida a hipótese de síndrome de Cockayne, que foi confirmada por teste genético molecular.Conclusões: A síndrome de Cockayne é um distúrbio raro (1/100.000), autossômico recessivo. Seu diagnóstico pode ser moroso, pois os sinais e sintomas vão surgindo progressiva e lentamente. A conjugação dos critérios de diagnóstico pode levar anos, sendo de extrema importância a suspeição clínica.

Aims: To report cases of Cockayne syndrome in two siblings, describing the clinical presentation and evolution.Case description: We describe the cases of two siblings, an 8 years old girl and a 13 years old boy, both with global developmental disability, microcephaly, dwarfism and peculiar facies (triangular face, microphthalmia, microstomia and micrognathia). New problems emerged during follow-up: sensorineural hearing loss, hypermetropia and photosensitivity. Clinical features suggested Cockayne syndrome, which was confirmed by molecular genetictesting.Conclusions: Cockayne?s syndrome is a rare (1/100,000), recessive autosomal disorder. Its diagnosis may be delayed because the signs and symptoms arise gradually and slowly. Obtaining the diagnostic criteria can take years and clinical suspicion is extremely important.

Meromelia transversa en las cuatro extremidades con facies característica asociadas al abuso de cocaína en el primer trimestre del embarazo / Transverse meromelia in all four limbs with characteristic facie associated with cocaine abuse in the first trimester of pregnancy

Introducción. Las transiciones demográfica y epidemiológica en México permiten que aumente la frecuencia de enfermedades relacionadas con el consumo de drogas ilegales en mujeres que se encuentran en edad reproductiva. El consumo materno de cocaína durante el embarazo está asociado con efectos teratogénicos en el embrión, principalmente en órganos como cerebro, corazón, tracto genitourinario y extremidades, lo que afecta gravemente su función y la calidad de vida de los recién nacidos. Caso clínico. Paciente masculino de tres días de vida extrauterina que presenta meromelia transversa en las cuatro extremidades con facies característica. La madre informó que consumió cocaína antes y durante el primer trimestre del embarazo; esto se confirmó con el reporte toxicológico de la orina. Conclusiones. Es importante llevar a cabo el estudio de los casos asociados con el consumo de agentes teratogénicos, para ampliar el conocimiento científico, y establecer medidas de prevención y tratamiento de estas patologías.

Background. The epidemiological and demographic transition in Mexico demonstrates the frequency of health-related conditions related to illegal drug use in women of childbearing age. Maternal abuse of cocaine during pregnancy is associated with teratogenic effects in the embryo affecting chiefly brain, heart, urogenital tract and extremities, with serious consequences affecting function and/or quality of life of the newborns. Case report. We present the case of a 3-day-old male who presented transverse meromelia in all four limbs with characteristic facie. Parents reported consumption of cocaine. The mother reported consuming cocaine prior to and during the first trimester of pregnancy and self-report was verified along with toxicological urine testing. Conclusions. Studies associated with consumption of teratogenic agents are important to carry out in order to expand scientific knowledge and to establish measures of prevention and treatment of these pathologies.

Oro-facial manifestations in myotonic syndrome / Manifestações bucais na síndrome miotônica

Objective: To present a case of myotonic syndrome in a 35-year-old male patient and to review anddiscuss the literature. Discussion and conclusion: The myotonic syndrome is a steadily progressive,familial, distal myopathy with associated weakness of the muscles of face, jaw, neck and elevators of theeyelids, a tendency for myotonic persistence of contraction in the affected parts and testicular atrophy.The patient was referred to the Department with complaint of recurrent temporomandibular joint dislocation,presenting with the characteristic oro-facial manifestations of myotonic syndrome.

Objetivo: Apresentar um caso de síndrome miotônica em um paciente adulto, 35 anos, sexo masculino, bem comorever e discutir a literatura pertinente. Discussão e conclusão: A síndrome miotônica é uma miopatia distal deprogressão contínua, familiar, e associada à fraqueza dos músculos da face, mandíbula, pescoço e músculos elevadoresdas pálpebras, com tendência de persistência de contratura miotônica nas partes afetadas, bem como atrofi a testicular.O paciente se apresentou ao departamento com queixa de deslocamento recorrente da articulação temporomandibular,apresentando as características de manifestações orofaciais de síndrome miotônica.

Síndrome de Alagille: a propósito de un caso / Alagille's syndrome: a propos of a case

El síndrome de Alagille es un trastorno autosómico dominante, con expresividad variable, cuya prevalencia es de 1 en 100.000 nacidos vivos. Se caracteriza por manifestaciones hepáticas, anomalías vertebrales y oculares, cardiopatía congénita y dismorfias faciales. Se ha identificado el defecto genético causante en el gen JAG 1, localizado en el cromosoma 20, del cual se describen diferentes mutaciones.El pronóstico de este síndrome es variable y depende fundamentalmente de la entidad de la afectación hepática y los defectos cardiovasculares.Se presenta un paciente de 10 años en el que durante una internación por una patología infecciosa adquirida, se realiza diagnóstico de síndrome de Alagille. Este paciente presenta cuatro de los cinco criterios mayores diagnósticos de la enfermedad: cardiopatía congénita, anomalías vertebrales, embriotoxon posterior y fascies característica. Además antecedentes familiares de cardiopatía congénita y dismorfias faciales, con una genealogía que recuerda el tipo de herencia autosómica dominante.

Alagille Syndrome is an autosomal dominant disorder of variable expression, whose prevalence is 1 in 100 000 births, characterized by cholestasis, vertebral and eye abnormalities, congenital heart disease and characteristic facies. It is caused by mutations in the Jagged 1 gene. Several mutations have been described in this gene, located in chromosome 20. The prognosis of this syndrome is variable and depends on the severity of hepatic or cardiac involvement.We present a 10 year old patient in which Alagille syndrome is diagnosed during a hospital stay for an infectious pathology. This patient has 4 of the 5 major features: characteristic facies, posterior embriotoxon, vertebral defects, congenital heart disease. Presents family history of congenital heart disease and facial dysmorphias with a genealogy that resembles an autosomal dominant disorder.

Alluvial-eolian interaction in a Cambrian rift margin: the Pedra das Torrinhas and Pedra Pintada formations (Guaritas Group, RS)

This work presents a study of selected outcrops from the Pedra das Torrinhas Formation of the Guaritas Group (Cambrian, Camaquã Basin), near the basin bordering Encantadas Fault Zone. The studied succession includes alluvial fan deposits that pass laterally into eolian deposits. Sedimentary facies and architectural element analysis were performed, followed by sedimentary petrography and microscopic porosity analysis, aiming to characterize the porosity of the deposits and its spatial distribution. The main objective was to contribute to a better understanding of the porosity spatial distribution in depositional systems characterized by the interaction between alluvial and eolian processes, with special reference to deposits formed prior to the development of terrestrial plants. Porosity values are related to depositional processes, with higher porosities associated to eolian dune deposits (mean of 8.4 percent), and lower porosity related to interdunes (mean of 3.4 percent) and alluvial fans (mean of 4.3 percent). Architectural elements analysis revealed the spatial relationships of these deposits, a response to the interplay of the eolian and alluvial processes. The integration of porosity data reveals that the interaction of alluvial and eolian processes results in heterogeneous distribution of porosity at the facies association scale. Eolian reworking of alluvial facies increases porosity whereas sheet-flood and other alluvial processes in the interdune areas reduce porosity.

O presente trabalho consiste no estudo de afloramentos da Formação Pedra das Torrinhas do Grupo Guaritas (Cambriano, Bacia Camaquã), próximo à Zona de Falha das Encantadas. As sucessões estudadas incluem depósitos de leques aluviais que passam lateralmente para depósitos eólicos. Foram realizadas análises de fácies e de elementos arquiteturais, seguidos de petrografia sedimentar e análise microscópica de porosidade, com o objetivo de caracterizar a porosidade da unidade e sua distribuição espacial. o principal objetivo foi contribuir para uma melhor compreensão da distribuição espacial de porosidade em sistemas deposicionais caracterizados pela interação aluvial-eólica, com atenção especial à sistemas deposicionais pré-vegetação. A porosidade é controlada principalmente pelos processos deposicionais, com os valores maiores associados a depósitos de dunas eólicas (média de 8,4 por cento) e os menores a facies de interdunas (média de 3,4 por cento) e de leques aluviais (média de 4,3 por cento). A análise dos elementos arquiteturais mostra a relação espacial destes depósitos, provocada por interações entre sistemas deposicionais aluviais e eólicos. A integração de dados revela que a interação de processos aluviais e eólicos resultou em uma complexa heterogeneidades na escala de associação de facies. o retrabalhamento eólico de fácies aluviais provocou aumento de porosidade enquanto que a ocorrência de enchentes-em-lençol em áreas de interduna e o aporte de sedimentos aluviais em interdunas inundadas formaram corpos sedimentares com porosidade reduzida.

Análise faciológica e estratigráfica da planície costeira de Soure (margem leste da ilha de Marajó-PA), no trecho compreendido entre o canal do Cajuúna e o estuário Paracauari / Faciological and stratigraphical analysis of Soure's coastal plain (eastern Marajó island-Pará), between Cajuúna channel and Paracauari estuary

A planície costeira de Soure, na margem leste da ilha de Marajó (Pará), é constituída por áreas de acumulação lamosa e arenosa, de baixo gradiente, sujeitas a processos gerados por marés e ondas. Suas feições morfológicas são caracterizadas por planícies de maré, estuários, canais de maré e praias-barreiras. A análise faciológica e estratigráfica de seis testemunhos a vibração, com profundidade média de 4 m, e de afloramentos de campo permitiu a caracterização dos ambientes deposicionais, sua sucessão temporal e sua correlação lateral, a elaboração de seções estratigráficas e a definição de uma coluna estratigráfica. Foram identificadas cinco associações de facies: (1) facies de planície de maré, (2) facies de manguezal, (3) facies de barra de canal de maré, (4) facies de praia e (5) facies de duna. A história sedimentar da planície costeira de Soure é representada por duas sucessões estratigráficas: (1) a sucessão progradacional, constituída pelas associações de facies de planície de maré, manguezal e barra de canal de maré; e (2) a sucessão retrogradacional, formada pelas associações de facies de praia e de duna. Essas sucessões retratam uma fase de expansão das planícies de maré e manguezais, com progradação da linha de costa (Holoceno médio a superior), e uma posterior fase de retrogradação, com migração dos ambientes de praias e dunas sobre depósitos lamosos de manguezal e planície de maré, no Holoceno atual. A história deposicional da planície costeira de Soure é condizente com o modelo de evolução holocênica das planícies costeiras do nordeste paraense.

Soures's coastal plain, eastern Marajó island (Pará), is formed by muddy and sandy deposits, low gradient areas submitted to tidal and wave processes. The morphological features are tidal flats, estuaries, tidal channels and barrier-beach ridges . The faciological and stratigraphical analysis of six vibra-core with medium deph of four meters and from outcrops allowed a caracterization of depositional environments, temporal sequence and spacial corelation, the elaboration of stratigraphical seccions and column. Were identified five facies associations: (1) tidal flat facies, (2) mangrove facies, (3) tidal channel bar facies, (4) beach facies and (5) dune facies. The sedimentary history of the Soure coastal plain is represented by two stratigraphical successions: (1) progradational succession (tidal flat, mangrove and channel bar facies association) and (2) retrogradational succession (beach and dune facies association). These successions are related to a expansion phase of tidal flats and mangroves with progradation of the coastline (Middle/Late Holocene) and a posterior retrogradation phase with landward migration of the shoreline (Late Holocene). The depositional history of the Soure coastal plain is related to the holocenic evolution model of the northeast coastal plains of Pará.

Análise faciológica e estratigráfica da planície costeira de Soure (margem leste da ilha de Marajó-PA), no trecho compreendido entre o canal do Cajuúna e o estuário Paracauari

Soures's coastal plain, eastern Marajó island (Pará), is formed by muddy and sandy deposits, low gradient areas submitted to tidal and wave processes. The morphological features are tidal flats, estuaries, tidal channels and barrier-beach ridges . The faciological and stratigraphical analysis of six vibra-core with medium deph of four meters and from outcrops allowed a caracterization of depositional environments, temporal sequence and spacial corelation, the elaboration of stratigraphical seccions and column. Were identified five facies associations: (1) tidal flat facies, (2) mangrove facies, (3) tidal channel bar facies, (4) beach facies and (5) dune facies. The sedimentary history of the Soure coastal plain is represented by two stratigraphical successions: (1) progradational succession (tidal flat, mangrove and channel bar facies association) and (2) retrogradational succession (beach and dune facies association). These successions are related to a expansion phase of tidal flats and mangroves with progradation of the coastline (Middle/Late Holocene) and a posterior retrogradation phase with landward migration of the shoreline (Late Holocene). The depositional history of the Soure coastal plain is related to the holocenic evolution model of the northeast coastal plains of Pará.

A planície costeira de Soure, na margem leste da ilha de Marajó (Pará), é constituída por áreas de acumulação lamosa e arenosa, de baixo gradiente, sujeitas a processos gerados por marés e ondas. Suas feições morfológicas são caracterizadas por planícies de maré, estuários, canais de maré e praias-barreiras. A análise faciológica e estratigráfica de seis testemunhos a vibração, com profundidade média de 4 m, e de afloramentos de campo permitiu a caracterização dos ambientes deposicionais, sua sucessão temporal e sua correlação lateral, a elaboração de seções estratigráficas e a definição de uma coluna estratigráfica. Foram identificadas cinco associações de facies: (1) facies de planície de maré, (2) facies de manguezal, (3) facies de barra de canal de maré, (4) facies de praia e (5) facies de duna. A história sedimentar da planície costeira de Soure é representada por duas sucessões estratigráficas: (1) a sucessão progradacional, constituída pelas associações de facies de planície de maré, manguezal e barra de canal de maré; e (2) a sucessão retrogradacional, formada pelas associações de facies de praia e de duna. Essas sucessões retratam uma fase de expansão das planícies de maré e manguezais, com progradação da linha de costa (Holoceno médio a superior), e uma posterior fase de retrogradação, com migração dos ambientes de praias e dunas sobre depósitos lamosos de manguezal e planície de maré, no Holoceno atual. A história deposicional da planície costeira de Soure é condizente com o modelo de evolução holocênica das planícies costeiras do nordeste paraense.