Severe Adams-Oliver Syndrome after Maternal COVID-19 Infection Could Be Another Effect of the SARS-CoV-2 Inflammatory Storm? Case Report.

Background. Adams-Oliver syndrome is a congenital disease whose main findings are aplasia cutis congenita of the scalp and terminal transverse limb defects. The pathogenesis is unknown, but it is postulated that ischemic events in susceptible tissues cause the lesions in the embryonic period.Case report. We present a newborn with a severe phenotype of Adams-Oliver syndrome. The infant's mother had a SARS-CoV-2 infection in the first trimester of pregnancy. Prenatal ultrasound indicates a probable worsening of the disease after the first trimester.Conclusion. This study shows a previously unpublished severe AOS phenotype in a term newborn. There are some signs that the disease could have progressed beyond the first trimester, either spontaneously or by the inflammatory mechanisms of SARS-CoV-2.

Adams-Oliver syndrome and associated complications: Report of a family in Colombia and review of the literature / Síndrome de Adams-Oliver y complicaciones asociadas: reporte de una familia en Colombia y revisión de la literatura

The Adams-Oliver syndrome is a rare congenital disorder characterized by aplasia cutis congenita of the scalp, terminal transverse limb defects, and congenital telangiectatic cutis marmorata. It can occur through different inheritance patterns: autosomal dominant, autosomal recessive, or de novo dominant mutations. Although the Adams-Oliver syndrome is a rare disease, it is essential to know its clinical characteristics and inheritance patterns, to establish a correct diagnosis and its possible complications during follow-up. In the present study, we describe the case of an adolescent with Adams-Oliver syndrome with an autosomal dominant inheritance pattern, pulmonary hypertension and plastic bronchitis, and several compromised family members.

El síndrome de Adams-Oliver es un trastorno congénito raro, caracterizado por aplasia cutis congénita en el cuero cabelludo, defectos terminales transversales de las extremidades y piel marmorata telangiectásica congénita. Este puede presentarse debido a diferentes patrones de herencia de tipo autosómico dominante o autosómico recesivo, o por mutaciones dominantes de novo. Aunque el síndrome de Adams-Oliver es una enfermedad poco frecuente, es importante conocer sus características clínicas y patrones de herencia, para así establecer un correcto diagnóstico y sus posibles complicaciones durante el seguimiento. En el presente estudio, se describe el caso de una adolescente con síndrome de Adams-Oliver con patrón de herencia autosómica dominante, hipertensión pulmonar y bronquitis plástica. Había varios miembros de su familia con el mismo compromiso.

Síndrome de Adams-Oliver y complicaciones asociadas: reporte de una familia en Colombia y revisión de la literatura / Adams-Oliver syndrome and associated complications: Report of a family in Colombia and review of the literature

El síndrome de Adams-Oliver es un trastorno congénito raro, caracterizado por aplasia cutis congénita en el cuero cabelludo, defectos terminales transversales de las extremidades y piel marmorata telangiectásica congénita. Este puede presentarse debido a diferentes patrones de herencia de tipo autosómico dominante o autosómico recesivo, o por mutaciones dominantes de novo. Aunque el síndrome de Adams-Oliver es una enfermedad poco frecuente, es importante conocer sus características clínicas y patrones de herencia, para así establecer un correcto diagnóstico y sus posibles complicaciones durante el seguimiento. En el presente estudio, se describe el caso de una adolescente con síndrome de Adams-Oliver con patrón de herencia autosómica dominante, hipertensión pulmonar y bronquitis plástica. Había varios miembros de su familia con el mismo compromiso

The Adams-Oliver syndrome is a rare congenital disorder characterized by aplasia cutis congenita of the scalp, terminal transverse limb defects, and congenital telangiectatic cutis marmorata. It can occur through different inheritance patterns: autosomal dominant, autosomal recessive, or de novo dominant mutations. Although the Adams-Oliver syndrome is a rare disease, it is essential to know its clinical characteristics and inheritance patterns, to establish a correct diagnosis and its possible complications during follow-up. In the present study, we describe the case of an adolescent with Adams-Oliver syndrome with an autosomal dominant inheritance pattern, pulmonary hypertension and plastic bronchitis, and several compromised family members.

Mycobacterium lepromatosis as Cause of Leprosy, Colombia.

Leprosy is a granulomatous infection caused by infection with Mycobacterium leprae or M. lepromatosis. We evaluated skin biopsy and slit skin smear samples from 92 leprosy patients in Colombia by quantitative PCR. Five (5.4%) patients tested positive for M. lepromatosis, providing evidence of the presence of this pathogen in Colombia.

Batch and continuous adsorption of Cu(II) and Zn(II) ions from aqueous solution on bi-functionalized sugarcane-based biosorbent.

A new one-pot synthesis method optimized by a 23 experimental design was developed to prepare a biosorbent, sugarcane bagasse cellulose succinate pyromellitate (SBSPy), for the removal of Cu(II) and Zn(II) from single-component aqueous solutions, in batch and continuous modes. The bi-functionalization of the biosorbent with ligands of different chemical structures increased its selectivity, improving its performance for removing pollutants from contaminated water. The succinate moiety favored Cu(II) adsorption, while the pyromellitate moiety favored Zn(II) adsorption. Sugarcane bagasse (SB) and SBSPy were characterized using several techniques. Analysis by 13C Multi-CP SS NMR and FTIR revealed the best order of addition of each anhydride that maximized the chemical modification of SB. The maximum adsorption capacities of SBSPy for Cu(II) and Zn(II), in batch mode, were 1.19 and 0.95 mmol g-1, respectively. Homogeneous surface diffusion, intraparticle diffusion, and Boyd models were used to determine the steps involved in the adsorption process. Isothermal titration calorimetry was used to assess changes in enthalpy of adsorption as a function of SBSPy surface coverage. Fixed-bed column adsorption of Cu(II) and Zn(II) was performed in three cycles, showing that SBSPy has potential to be used in water treatment. Breakthrough curves were well fitted by the Thomas and Bohart-Adams models.

Comments on "Dynamic Adsorption of Sulfamethoxazole from Aqueous Solution by Lignite Activated Coke".

This paper presents a brief discussion with regard to the fixed-bed modeling results of a recent paper by Li et al. published in this journal.

Sphingomyelinases D From Loxosceles Spider Venoms and Cell Membranes: Action on Lipid Rafts and Activation of Endogenous Metalloproteinases.

Loxosceles spider venom contains Sphingomyelinase D (SMase D), the key toxin causing pathology. SMase D hydrolyzes the main component of lipid rafts, sphingomyelin, which changes the membrane microenvironment resulting in the activation of endogenous metalloproteinase from the ADAMs family. Alterations in membrane microenvironment of lipid rafts contribute to the activation of several cell surface molecules. Serine proteinases convertases acting on the pro-domain of membrane metalloproteinases, such as ADAMs, increase the cleavage and the release of proteins ectodomains and receptors located at the cell surface areas containing lipid rafts. We, therefore, investigated the interaction of SMases D with these membrane microdomains (lipid rafts) in human keratinocytes, to better understand the molecular mechanism of SMases D action, and identify the ADAM(s) responsible for the cleavage of cell surface molecules. Using specific inhibitors, we observed that ADAMs 10 and 17 are activated in the cell membrane after SMase D action. Furthermore, proproteins convertases, such as furin, are involved in the SMase D induced ADAMs activation. One of the signaling pathways that may be involved in the activation of these proteases is the MAPK pathway, since phosphorylation of ERK1/2 was observed in cells treated with SMase D. Confocal analysis showed a strong colocalization between SMase D and GM1 ganglioside present in rafts. Analysis of structural components of rafts, such as caveolin-1 and flotillin-1, showed that the action of SMase D on cell membranes leads to a reduction in caveolin-1, which is possibly degraded by toxin-induced superoxide production in cells. The action of the toxin also results in flotilin-1 increased detection in the cell membrane. These results indicate that SMases D from Loxosceles venoms alter membrane rafts structure, leading to the activation of membrane bound proteases, which may explain why the lipase action of this toxin can result in proteolytic cleavage of cell surface proteins, ultimately leading to pathology.

A los diecisiete años desaparecen del EEG las polipuntas y polipunta ondas: a propósito del síndrome de Lance-Adams / At the seventeen years they disappear from the EEG The little and little waves: About the Lance-Adams syndrome

Objetivo: la inesperada ausencia del signo de polipunta o de polipunta onda (PPO) en el electroencefalograma (EEG) de dos casos, de 29 y 51 años, respectivamente, del Síndrome Lance Adams (SLA), que hemos visto y publicado con anterioridad, nos motivó a investigar la edad cuando este signo tiende a extinguirse, dejando de ser obligatorio para diagnosticar SLA a pacientes de edad madura. Métodos: de una muestra de 7137 trazados se incluyeron 6939, tras excluir 198 por referimientos no identificables. Estos EEG del Centro de Rehabilitación y el Centro Médico de la Universidad Central del Este (UCE), fueron realizados con electroencefalógrafos Nervus y Cadwell, de manera respectiva. Se revisaron buscando la presencia de PPO para estudiar la edad, la patología sospechada en cada indicación y el género de los pacientes. Resultados: PPO fue encontrada en 293 casos: 4.22 % de la muestra total. En 272 habría ocurrido antes de los 17 años, con la gráfica mostrando una elevación inicial máxima a las nueve. En cambio, de los 18 a los 65 solo apareció la PPO en 18 casos. 14 pacientes mostraron supresión de paroxismo o patrones de electro depresión sin PPO. Conclusión: la polipunta/polipunta onda prácticamente desaparece a los 17 años, a mayor edad, por lo tanto, el signo PPO deja de ser obligatorio para el diagnóstico del SLA en pacientes mayores. Es más frecuente en epilépticos y en varones

Objective: Unexpected absence of polyspike/polyspike & wave sign (PPW) in the EEG of our 29 and 51-year old published cases of Lance Adams Syndrome (LAS), prompted us to investigate the age when this sign may nearly disappear. This in order of considering it not obligatory for late LAS diagnosis. Methods: Inclusion consisted of a sample of 7137 recordings performed at the Rehabilitation Center and the Universidad Central del Este's (UCE) teaching clinic (Nervus and Cadwell respectively). Excluded were 198 for unidentifiable indications. PPW was searched in order to study patient's age, suspected pathology plus gender. Results: PPW was found in 293cases: 4.22% of the total sample: in 275.it occurred before the age of 17 with curve showing an initial tip at nine while between 18 and 65 only 18 cases showed it. Incidentally 14 patients showed Burst suppression or electro-decrement patterns without PPW. The most common indication pathology was Epilepsy followed by learning disability. Finally it was more frequent in 176(63.9%) male vs. 113(36.1%) in female cases: ratio 1.56 to 1. however not significant for the gender ratio in the total EEG sample is 1.55 to 1. Conclusion: PPW nearly disappears after the age of seventeen, perhaps explaining rarity in advanced aged SLA. It is more frequent in Epilepsy EEG indications and in the male

Sphingomyelinases D from loxosceles spider venoms and cell membranes: action on lipid rafts and activation of endogenous Metalloproteinases

Loxosceles spider venom contains Sphingomyelinase D (SMase D), the key toxin causing pathology. SMase D hydrolyzes the main component of lipid rafts, sphingomyelin, which changes the membrane microenvironment resulting in the activation of endogenous metalloproteinase from the ADAMs family. Alterations in membrane microenvironment of lipid rafts contribute to the activation of several cell surface molecules. Serine proteinases convertases acting on the pro-domain of membrane metalloproteinases, such as ADAMs, increase the cleavage and the release of proteins ectodomains and receptors located at the cell surface areas containing lipid rafts. We, therefore, investigated the interaction of SMases D with these membrane microdomains (lipid rafts) in human keratinocytes, to better understand the molecular mechanism of SMases D action, and identify the ADAM(s) responsible for the cleavage of cell surface molecules. Using specific inhibitors, we observed that ADAMs 10 and 17 are activated in the cell membrane after SMase D action. Furthermore, proproteins convertases, such as furin, are involved in the SMase D induced ADAMs activation. One of the signaling pathways that may be involved in the activation of these proteases is the MAPK pathway, since phosphorylation of ERK1/2 was observed in cells treated with SMase D. Confocal analysis showed a strong colocalization between SMase D and GM1 ganglioside present in rafts. Analysis of structural components of rafts, such as caveolin-1 and flotillin-1, showed that the action of SMase D on cell membranes leads to a reduction in caveolin-1, which is possibly degraded by toxin-induced superoxide production in cells. The action of the toxin also results in flotilin-1 increased detection in the cell membrane. These results indicate that SMases D from Loxosceles venoms alter membrane rafts structure, leading to the activation of membrane bound proteases, which may explain why the lipase action of this toxin can result in proteolytic cleavage of cell surface proteins, ultimately leading to pathology.

Síndrome de Adams-Oliver en dos casos clínicos / Adams-Oliver Syndrom in two clinical cases

Introducción: El síndrome de Adams-Oliver es una enfermedad heterogénea, caracterizada por aplasia cutis congénita y defecto transverso terminal de extremidades, con un amplio espectro fenotípico de malformaciones asociadas. Se han descrito diferentes modos de herencia en esta enfermedad. En el contexto cubano no se ha presentado ni publicado hasta el momento, casos de pacientes afectados por este síndrome Objetivo: Aportar evidencia que demuestra la presentación de casos con síndrome de Adams-Oliver. Presentación de casos: Se exponen dos casos de pacientes neonatales con síndrome de Adams-Oliver desde el punto de vista clínico, ambos de presentación esporádica. Además de la aplasia cutis congénita y el defecto transverso terminal de extremidades, uno de los pacientes exhibía cutis marmorata telangiectásica congénita y una anomalía de Ebstein. Conclusiones: Se exponen dos neonatos con síndrome de Adams-Oliver, ambos de presentación esporádica y uno de estos con una cardiopatía congénita (anomalía de Ebstein) no informada hasta ahora en la literatura(AU)

Introduction: The Adams-Oliver syndrome is a heterogenic disease characterized by aplasia cutis congenita and terminal transverse limb defects, with a wide phenotypic spectrum of associated malformations. Different kinds of inheritance of this disease have been described. In Cuba, any cases of patients suffering this syndrome have not been presented or published so far. Objective: To provide evidence demonstrating the presentation of cases with Adams-Oliver syndrome. Cases report: Two cases of neonatal patients with Adams-Oliver syndrome are presented from the clinical point of view, both of which are sporadic. In addition to the aplasia cutis congenita and the terminal transverse defect of the limbs, one of the patients presented congenital cutis marmorata telangiectatic and Ebstein anomaly. Conclusions: Two newborns cases with Adams-Oliver syndrome, both of sporadic presentation and one of these with a congenital heart disease (Ebstein anomaly) not previously reported in the literature are presented(AU)

Metalloproteinases in disease: identification of biomarkers of tissue damage through proteomics.

INTRODUCTION: Metalloproteinases play key roles in health and disease, by generating novel proteoforms with variable structure and function. Areas covered: This review focuses on the role of endogenous [a Disintegrin and Metalloproteinase (ADAMs), ADAMs with thrombospondin motifs (ADAMTS), and matrix metalloproteinases (MMPs)] and exogenous metalloproteinases in various disease conditions, and describes the application of mass spectrometry-based proteomics to detect qualitative and quantitative changes in protein profiles in tissues and body fluids in disease. Emphasis is placed on the proteomic analysis of exudates collected from affected tissues, including methods that enrich newly generated protein fragments derived from proteolysis in cells, stroma, or extracellular matrix. The use of proteomic analysis of exudates in the study of the local tissue damage induced by metalloproteinases derived from viperid snake venoms is discussed, particularly in relation to extracellular matrix degradation and to the overall pathology of these envenomings. Expert commentary: The information provided by these proteomics approaches is paving the way for the identification of biomarkers based on particular proteolytic signatures associated with different pathologies. Together with other methodological approaches, a comprehensive view of the mechanisms and dynamics of diseases can be achieved. Such basis of knowledge allows for the design of novel diagnostic and therapeutic approaches within the frame of 'precision' or 'personalized' medicine.

Chaotic Attractors with Fractional Conformable Derivatives in the Liouville-Caputo Sense and Its Dynamical Behaviors.

This paper deals with a numerical simulation of fractional conformable attractors of type Rabinovich-Fabrikant, Thomas' cyclically symmetric attractor and Newton-Leipnik. Fractional conformable and ß -conformable derivatives of Liouville-Caputo type are considered to solve the proposed systems. A numerical method based on the Adams-Moulton algorithm is employed to approximate the numerical simulations of the fractional-order conformable attractors. The results of the new type of fractional conformable and ß -conformable attractors are provided to illustrate the effectiveness of the proposed method.

Diseño de un Prototipo de Exoesqueleto para Rehabilitación del Hombro / Design of an Exoskeleton Prototype for Shoulder Rehabilitation

Resumen: La discapacidad motora es un problema a nivel mundial y según el censo 2010 del INEGI, en México, las personas con problemas de movilidad representan el 58.3 % de la población con discapacidad. Para afrontar esta problemática, han surgido dispositivos robóticos para rehabilitación que permiten realizar terapias con precisión, eficiencia, reducción de esfuerzos físicos y la oportunidad de realizarlas en grupo. Sin embargo, estos dispositivos no pueden igualar la movilidad de los miembros a rehabilitar y su adaptación a la antropometría mexicana es limitada. En este artículo se presenta el diseño de un exoesqueleto enfocado a la población adulta mexicana con pérdida parcial de movilidad en el hombro. El objetivo es desarrollar un exoesqueleto capaz de generar los 3 movimientos básicos del hombro (flexión-extensión, abducción-aducción y rotación interna-externa), considerando las medidas antropométricas de la población objetivo. Para el diseño del prototipo se utiliza una adaptación de la metodología de diseño mecatrónico de robots. El diseño propuesto es validado cinemáticamente mediante simulaciones numéricas en Matlab® y en ADAMS™, comprobando el rango de movilidad de cada articulación. Además, se realiza el análisis de elemento finito para cuantificar los esfuerzos y las deformaciones en el exoesqueleto, verificando la selección de materiales para su manufactura.

Abstract: The motor disability is a problem at the global level and according to the census 2010 from INEGI, in Mexico, people with mobility problems represent 58.3 % of the population with disabilities. To face this problem, robotic devices for rehabilitation have emerged which allow to perform therapies with accuracy, efficiency, reduction of physical efforts and the opportunity to perform them in group. However, these devices may not match the mobility of the members to rehabilitate and their adaptation to the mexican anthropometry is limited. In this article, the design of an exoskeleton focused on the Mexican adult population with partial loss of mobility in the shoulder is presented. The objective is to develop an exoskeleton capable of generating the 3 basic movements of the shoulder (flexion-extension, abduction-adduction and internal-external rotation) considering the anthropometric measurements of the target population. For the design of the prototype, an adaptation of the mechatronic design methodology for robots is used. The proposed design is validated kinematically through numerical simulations in Matlab® and ADAMS™, the numerical results prove the range of mobility of each exoskeleton joint. Moreover, a finite element analysis is carried out to quantify the stress and strain levels in the exoskeleton, verifying the selection of materials for its manufacture.

Detección temprana de la escoliosis idiopática del adolescente: una estrategia en controversia / Early detection of adolescent idiopathic scoliosis: Strategy in controversy

Resumen La escoliosis idiopática del adolescente (EIA) consiste en una deformidad tridimensional de la estructura de la columna vertebral en los planos coronal, sagital y rotacional, que afecta a sujetos sanos a partir de los 10 años de edad hasta la madurez ósea o al término del crecimiento. Esta enfermedad puede comprometer el estado físico, emocional y, por lo tanto, la calidad de vida de quienes la padecen, por lo que debe ser considerada un problema de salud significativo. La EIA se puede sospechar con un examen físico de columna, mediante el cual se evalúa el nivel de los hombros, el nivel de las escápulas, el nivel de la pelvis, la prueba de Adams y el signo de Pitres. A pesar de que en México no se han establecido oficialmente programas para la detección temprana de la enfermedad, la prueba de Adams puede ser la pauta para identificar y prevenir el desarrollo de esta deformidad. La aplicación de esta prueba de tamizaje está al alcance de todos. A pesar de que se podría considerar que su detección oportuna desde etapas tempranas sería la mejor estrategia para combatirla a tiempo, existen grupos de investigación a nivel internacional que opinan distinto, lo que ha colocado a la detección temprana como un tema controversial. Por lo anterior, el objetivo de este trabajo es ofrecer al lector un panorama general y actualizado de las diferentes perspectivas del tema, esperando que sea de utilidad para la práctica profesional.

Abstract Adolescent idiopathic scoliosis (EIA), consists of a three-dimensional deformity of the structure of the spine in the coronal, sagittal and rotational planes affecting healthy subjects ranging from 10 years of age until skeletal maturity or term of growing. This disease can compromise physical and emotional state, therefore, the quality of life of those who suffer it, so the EIA must be considered as significant health problem. The EIA can be suspected by a physical examination of the spine on whichshoulders level, shoulder blades level, pelvis level, Adams Test and Pitres sign are evaluated. Even though, it hasn't been officially established a program for an early detection of the disease in Mexico, evidence through Adams Test can be a guideline to identify and prevent the development of this deformity. The application of this screening test is available to all. Although it could be considered that early detection of this deformity at young ages would be the best strategy to get on time for treatment, there are international research groups that have a different opinion, which has placed early detection of EIA as a controversy topic. Therefore, the aim of this paper is to provide a general and updated overview of the different perspectives of this issue, hoping it will be useful for the professional practice.

Síndrome de Hakim Adams: evaluación de la calidad de vida luego de la cirugía / Hakim Adams syndrome: assessment of quality of life after surgery

Introducción: el síndrome de Hakim Adams, o hidrocefalia normotensiva, es un cuadro progresivo que se caracteriza por presentar alteración de la marcha, trastornos esfinterianos y demencia, y que afecta principalmente a pacientes añosos. Si bien existen publicaciones sobre los resultados del tratamiento quirúrgico, estos trabajos suelen evaluar la mejoría sintomática pero no la calidad de vida de los pacientes. Objetivo: Conocer el impacto del tratamiento en pacientes con síndrome de Hakim Adams tratados con derivación de LCR. Material y Métodos: Realizamos un estudio retrospectivo de una serie de 8 pacientes. Se realizó una encuesta para la evaluación preoperatoria y postoperatoria; con un tiempo transcurrido no menor a 6 meses luego del procedimiento. Se utilizó la escala de Barthel para la funcionalidad, y una escala numérica simple para la calidad de vida. Resultados: Previo a la cirugía, 7 casos presentaban alteraciones de la marcha y/o problemas para deambular; 6 casos alteraciones esfinterianas; y 5 casos algún tipo de alteración neurocognitiva. Luego de la cirugía, todos los pacientes refirieron un cambio significativo en la calidad de vida; y también en la funcionalidad, logrando 6 pacientes una independencia absoluta. Conclusión: Aunque nuestra comunicación tiene las debilidades de una serie pequeña de casos analizados en forma retrospectiva, los resultados son concluyentes en cuanto a mejora en la calidad de vida y funcionalidad en el postoperatorio. Creemos que esta modalidad de evaluación puede ayudar a los pacientes y/o familiares de pacientes en el proceso de toma decisiones del tratamiento quirúrgico.

Introduction: the Hakim Adams’ syndrome is a chronic hydrocephalus of the elderly with normal or low CSF pressure that clinically have gait disturbances, urinary incontinence and dementia. Although there are some publications about the surgical results in terms of the relief of symptoms, they don’t usually evaluate the patients’ quality of life. Material and Methods: We are reporting a retrospective study of a series of 8 patients with diagnosis of Hakim Adams’ syndrome that was performed to assess the influence of CSF shunting on their quality of life. A survey was performed to record the preoperative status, with at least 6-months after surgery. Functional results were evaluated with Barthel’s scale; and the quality of life with a simple numeric scale. Results: Before surgery, 7 cases had gait disturbances; 6 cases had urinary incontinence; and 5 cases had neurocognitive impairment. Postoperatively, all patients reported a significative change in their quality of life, and also in the functional scale; 6 cases obtained total independence. Conclusion: Although our communication has the weakness of the small number of cases evaluated in a retrospective manner, the results are conclusive in terms of functionality improvement and quality of life. This kind of assessment may help to our patients and/or patients’ family in the decision making process of shunting procedures.

Fenotipo grave en dos medio hermanas con síndrome de Adams Oliver / Severe phenotype in two half-sibs with Adams Oliver syndrome

El síndrome de Adams Oliver (AOS) es una entidad heterogénea con defecto transverso terminal de extremidades (TTLD) y aplasia cutis congénita (ACC) con un amplio espectro fenotípico. Se han descrito diferentes modos de herencia en esta enfermedad; los defectos más graves se han asociado a un patrón autosómico recesivo (AR). Objetivo. presentar a una familia con dos medio hermanas con un fenotipo grave de Adams Oliver, con una madre sana. Reporte del caso: una mujer de 27 años de edad fue referida al Departamento de Genética. Su hija anterior presentó acránea, anillos de constricción y defectos transversos terminales de extremidades. Su hija actual presentaba encefalocele occipital, defecto amplio en huesos del cráneo, aplasia cutis congénita, defecto terminal transverso de extremidades y labio y paladar hendido bilateral. Sugerimos que algunos casos con fenotipo grave del síndrome de Adams Oliver pueden deberse a herencia autosómico dominante con penetrancia incompleta o a la presencia de mosaicismo gonadal.(AU)

Adams Oliver syndrome (AOS) is a highly variable entity with terminal transverse limb defects (TTLD) and aplasia cutis congenita (ACC) with a wide phenotypic spectrum. Several inheritance models have been observed; the most severe phenotype has been related to an autosomal recessive (AR) pattern of inheritance. Objective. To present a family with two half siblings with a severe phenotype of Adams Oliver syndrome in which the mother was healthy. Case report: A 27 year-old woman was referred to the Genetics Department. Her previous girl presented acrania, constriction rings and terminal transverse limb defects. The present girl had occipital encephalocele, large scalp defects, aplasia cutis congenita, terminal transverse limb defects and bilateral cleft lip and palate. Autosomal dominant inheritance with reduced penetrance or gonadal mosaicism has to be considered in Adams Oliver syndrome with severe intracranial anomalies.(AU)

Fenotipo grave en dos medio hermanas con síndrome de Adams Oliver / Severe phenotype in two half-sibs with Adams Oliver syndrome

El síndrome de Adams Oliver (AOS) es una entidad heterogénea con defecto transverso terminal de extremidades (TTLD) y aplasia cutis congénita (ACC) con un amplio espectro fenotípico. Se han descrito diferentes modos de herencia en esta enfermedad; los defectos más graves se han asociado a un patrón autosómico recesivo (AR). Objetivo. presentar a una familia con dos medio hermanas con un fenotipo grave de Adams Oliver, con una madre sana. Reporte del caso: una mujer de 27 años de edad fue referida al Departamento de Genética. Su hija anterior presentó acránea, anillos de constricción y defectos transversos terminales de extremidades. Su hija actual presentaba encefalocele occipital, defecto amplio en huesos del cráneo, aplasia cutis congénita, defecto terminal transverso de extremidades y labio y paladar hendido bilateral. Sugerimos que algunos casos con fenotipo grave del síndrome de Adams Oliver pueden deberse a herencia autosómico dominante con penetrancia incompleta o a la presencia de mosaicismo gonadal.

Adams Oliver syndrome (AOS) is a highly variable entity with terminal transverse limb defects (TTLD) and aplasia cutis congenita (ACC) with a wide phenotypic spectrum. Several inheritance models have been observed; the most severe phenotype has been related to an autosomal recessive (AR) pattern of inheritance. Objective. To present a family with two half siblings with a severe phenotype of Adams Oliver syndrome in which the mother was healthy. Case report: A 27 year-old woman was referred to the Genetics Department. Her previous girl presented acrania, constriction rings and terminal transverse limb defects. The present girl had occipital encephalocele, large scalp defects, aplasia cutis congenita, terminal transverse limb defects and bilateral cleft lip and palate. Autosomal dominant inheritance with reduced penetrance or gonadal mosaicism has to be considered in Adams Oliver syndrome with severe intracranial anomalies.

Síndrome de Lance Adams / Lance Adams Syndrome

La mioclonía poshipoxia crónica o síndrome de Lance Adams es una complicación rara que se produce en pacientes que sobreviven a la hipoxia o la hipotensión prolongada, días o semanas después del daño cerebral. Se presentó un caso con este síndrome, secundario a shock hipovolémico por embarazo ectópico roto. El electroencefalograma con ausencia de paroxismos apoya el origen subcortical de las mioclonías, con respuesta favorable al alonazepán. Se detallaron estudios de neuroimagen y potenciales evocados auditivos de tallo cerebral

The chronic poshipoxia myoclonus or Lance Adams syndrome is a rare complication that occurs in patients who survive prolonged hypoxia or hypotension, days or weeks after the complication. A case with this syndrome, hypovolemic shock secondary to a ruptured ectopic pregnancy is presented. EEG with no paroxysms supports the origin of myoclonus subcortical with favorable response to alonazepán. Neuroimaging and auditory evoked potentials and brainstem studies were detailed

Un caso de síndrome de Adams-Oliver con venas congénitas, dilatadas y persistentes en el cuero cabelludo / A case of Adams-Oliver syndrome with congenital and persistent dilated veins in the scalp

El síndrome de Adams-Oliver es un desorden congénito raro, caracterizado por la presencia de aplasia cutis congénita y defectos terminales transversos de los miembros. Comunicamos el caso de una niña de 4 años de edad con síndrome de Adams-Oliver que presenta venas congénitas, tortuosas y dilatadas en el cuero cabelludo, aplasia cutis congénita con defectos parciales del hueso craneal subyacente, calcificaciones intracraneales y anomalías leves de los pies.

Adams-Oliver syndrome is a rare congenital disorder characterized by aplasia cutis congenita and terminal transverse limb defects. We report a case of a 4-year-old girl with Adams-Oliver syndrome with congenital dilated and tortuous scalp veins, aplasia cutis congenita with partial underlying skull defects, intracranial calcifications, and mild foot anomalies.

Síndrome de Lance-Adams depois de parada cardiorrespiratória prolongada: relato de caso / Lance-Adams syndrome post longtime cardiac arrest: case report

JUSTIFICATIVA E OBJETIVOS: A síndrome de Lance-Adams (SLA) é caracterizada por mioclonias pós-hipóxicas crônicas, podendo surgir dias, semanas ou meses após grave lesão isquêmica ao sistema nervoso central. Sua incidência é muito baixa, sendo uma doença rara, com poucos casos descritos na literatura mundial. O objetivo desse estudo foi relatar um caso de SLA após parada cardiorrespiratória, discutindo algumas hipóteses de sua fisiopatologia e terapêutica. RELATO DO CASO: Paciente do sexo feminino, 50 anos, evoluiu com parada cardiorrespiratória por 30 minutos, durante a recuperação pós-anestésica, após submeter-se à gastroplastia redutora. Evoluiu em coma profundo por um mês, ficando em estado vegetativo persistente por quatro meses apresentando mioclonias generalizadas de difícil controle que melhoravam apenas durante o sono. Sua recuperação neurológica era evidente, escala de coma de Glasgow 11, quando evoluiu a óbito por hipertermia de origem central não responsiva as medicações, após 120 dias de internação. CONCLUSÃO: A SLA ainda possui fisiopatologia desconhecida, as medicações atuais podem como no presente caso, não atenuar os movimentos involuntários. Com a melhora das manobras de reanimação cardiorrespiratória podem ocorrer mais casos de SLA, exigindo maior conhecimento clínico desta doença.

BACKGROUND AND OBJECTIVES: The Lance-Adams syndrome (LAS) is characterized by a chronic myoclonus state after central nervous system hypoxemia that appears days, weeks or months after the insult. Its incidence is very low, being a rare disease, with few cases report in the world-wide literature. The aim of this study is to report a case of LAS after cardiac arrest, discussing some therapeutics hypotheses and physiopathological pathways.CASE REPORT: Female patient, 50 years old, presented a thirty minutes cardiac arrest during post-anesthetic recovery after a successful gastric bypass. Evolved into a deep coma for a month, progressing to vegetative persistent state for four months, during which she presented chronic generalized myoclonus, difficult to control with classical pharmacological agents. His neurological recovery was evident, Glasgow coma score 11 when she evolved to death by central origin hyperthermia unresponsive to medications, after 120 days of hospitalization. CONCLUSION: The Lance-Adams syndrome has yet an unknown pathophysiology mechanism that impairs our clinical approaches. Classical pharmacological agents may be ineffective, as in our case, does not alleviate completely the involuntary movements. With the improvement of cardiopulmonary resuscitation techniques, more cases of LAS should be faced, requiring more clinical knowledge of this disease.