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1.
PLoS One ; 19(1): e0294494, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-38170702

RESUMEN

Establishing the infant's gut microbiota has long-term implications on health and immunity. Breastfeeding is recognized as the best practice of infant nutrition in comparison with formula feeding. We evaluated the effects of the primary feeding practices by analyzing the infant growth and the potential association with gut diseases. A cross-sectional and observational study was designed. This study included 55 mothers with infants, who were divided according to their feeding practices in breastfeeding (BF), formula feeding (FF), and combined breast and formula feeding (CF). Anthropometric measurements of the participants were recorded. Additionally, non-invasive fecal samples from the infants were collected to analyze the microbiota by sequencing, immunoglobulin A (IgA) concentration (ELISA), and volatile organic compounds (gas chromatography with an electronic nose). Results showed that the microbiota diversity in the BF group was the highest compared to the other two groups. The IgA levels in the BF group were twice as high as those in the FF group. Moreover, the child´s growth in the BF group showed the best infant development when the data were compared at birth to the recollection time, as noted by the correlation with a decreased concentration of toxic volatile organic compounds. Interestingly, the CF group showed a significant difference in health status when the data were compared with the FF group. We conclude that early health practices influence children's growth, which is relevant to further research about how those infants' health evolved.


Asunto(s)
Microbioma Gastrointestinal , Compuestos Orgánicos Volátiles , Recién Nacido , Lactante , Femenino , Niño , Humanos , Estudios Transversales , Lactancia Materna , Inmunoglobulina A , Fórmulas Infantiles
2.
Rev. esp. quimioter ; 36(3): 291-301, jun. 2023. ilus, tab, graf
Artículo en Inglés | IBECS | ID: ibc-220760

RESUMEN

Objective: To describe and quantify resource use and direct health costs associated with skin and skin structure infections (SSSIs) caused by Gram-positive bacteria in adults receiving outpatient parenteral antimicrobial therapy (OPAT), administered by Hospital at Home units (HaH) in Spain. Material and method: Observational, multicenter, retrospective study. We included patients of both sexes included in the HaH-based OPAT Registry during 2011 to 2017 who were hospitalized due to SSSIs caused by Gram-positive bacteria. Resource use included home visits (nurses and physician), emergency room visits, conventional hospitalization stay, HaH stay and antibiotic treatment. Costs were quantified by multiplying the natural units of the resources by the corresponding unit cost. All costs were updated to 2019 euros. Results: We included 194 episodes in 189 patients from 24 Spanish hospitals. The most frequent main diagnoses were cellulitis (26.8%) and surgical wound infection (24.2%), and 94% of episodes resulted in clinical improvement or cure after treatment. The median HaH stay was 13 days (interquartile range [IR]:8-22.7), and the conventional hospitalization stay was 5 days (IR: 1-10.7). The mean total cost attributable to the complete infectious process was €7,326 (95% confidence interval: €6,316-€8,416). Conclusions: Our results suggest that OPAT administered by HaH is a safe and efficient alternative for the management of these infections and could lead to lower costs compared with hospital admission. (AU)


Objetivo: Describir y cuantificar el uso de recursos y costes directos sanitarios asociados con las infecciones de piel y tejidos blandos (IPPB) causadas por microorganismos grampositivos en adultos que recibieron tratamiento antimicrobiano domiciliario endovenoso (TADE), administrado en unidades de hospitalización a domicilio (HaD) en España. Material y métodos: Estudio observacional, multicéntrico, retrospectivo. Se incluyeron pacientes adultos de ambos sexos, incluidos en el Registro TADE en el periodo 2011 a 2017y cuyo motivo de ingreso fue una IPPB causada por un microorganismo Grampositivo. El uso de recursos incluyó las visitas a domicilio (enfermería y médico), visitas a urgencias, estancia en hospitalización convencional, estancia en HaD y tratamiento antibiótico. Los costes se cuantificaron multiplicando las unidades naturales de los recursos por el coste unitario correspondiente. Todos los costes fueron actualizados a euros de 2019. Resultados: Se incluyeron 194 episodios (189 pacientes) procedentes de 24 centros españoles. Los diagnósticos principales más frecuentes fueron celulitis (26,8%) e infección por herida quirúrgica (24,2%). El 94% de los episodios resultaron en una mejoría o curación clínica al finalizar el tratamiento. La mediana de la estancia en HaD fue de 13 días (rango intercuartílico [RI]:8-22,7), con una estancia previa en hospitalización convencional de 5 días (RI: 1-10,7). El coste total promedio atribuible al proceso infecciosos completo fue de 7.326€ (intervalo de confianza del 95%: 6.316€-8.416€). Conclusiones: Este estudio sugiere que el TADE administrado en HaD es una alternativa segura y eficiente para el manejo de estas infecciones y podría conducir a menores costes en comparación con el ingreso hospitalario. (AU)


Asunto(s)
Humanos , Masculino , Femenino , Persona de Mediana Edad , Anciano , Enfermedades Cutáneas Infecciosas/economía , Antiinfecciosos/uso terapéutico , Estudios Retrospectivos , Bacterias Grampositivas , España
3.
Rev Clin Esp (Barc) ; 223(6): 371-378, 2023.
Artículo en Inglés | MEDLINE | ID: mdl-37146748

RESUMEN

Combined with a physical examination, clinical ultrasound offers a valuable complement that can help guide clinical decision-making. In various medical and surgical specialties, it is increasingly used for diagnostic and therapeutic purposes. Due to recent technological advances, smaller and more affordable ultrasound machines are now being developed for use in home hospice care. The purpose of this paper is to describe how clinical ultrasound may be applied in Palliative Care, where it can be a valuable tool to assist the clinician in making better clinical decisions and to assist in accurately guiding palliative procedures. Furthermore, it can be used to identify unnecessary hospitalizations and prevent them from occurring. Training programs with specific objectives are necessary to implement clinical ultrasound in Palliative Care, as well as defining learning curves and promoting alliances with scientific societies that recognize the teaching, care and research trajectory for accreditation of competencies.


Asunto(s)
Cuidados Paliativos al Final de la Vida , Enfermería de Cuidados Paliativos al Final de la Vida , Humanos , Cuidados Paliativos/métodos , Sistemas de Atención de Punto , Ultrasonografía
5.
Antibiotics (Basel) ; 11(8)2022 Aug 19.
Artículo en Inglés | MEDLINE | ID: mdl-36009993

RESUMEN

Outpatient parenteral antimicrobial therapy (OPAT) programs encompass a range of healthcare processes aiming to treat infections at home, with the preferential use of the intravenous route. Although several barriers arise during the implementation of OPAT circuits, recent cumulative data have supported the effectiveness of these programs, demonstrating their application in a safe and cost-effective manner. Given that OPAT is evolving towards treating patients with higher complexity, a multidisciplinary team including physicians, pharmacists, and nursing staff should lead the program. The professionals involved require previous experience in infectious diseases treatment as well as in outpatient healthcare and self-administration. As we describe here, clinical pharmacists exert a key role in OPAT multidisciplinary teams. Their intervention is essential to optimize antimicrobial prescriptions through their participation in stewardship programs as well as to closely follow patients from a pharmacotherapeutic perspective. Moreover, pharmacists provide specialized counseling on antimicrobial treatment technical compounding. In fact, OPAT elaboration in sterile environments and pharmacy department clean rooms increases OPAT stability and safety, enhancing the quality of the program. In summary, building multidisciplinary teams with the involvement of clinical pharmacists improves the management of home-treated infections, promoting a safe self-administration and increasing OPAT patients' quality of life.

6.
J Clin Endocrinol Metab ; 107(10): e4078-e4085, 2022 09 28.
Artículo en Inglés | MEDLINE | ID: mdl-35876300

RESUMEN

CONTEXT: Angiopoietin-like protein 6 (ANGPTL6) is a hepatokine, which, in animal studies, improves insulin sensitivity and increases energy expenditure to counteract insulin resistance. OBJECTIVE: Evaluate in a human population, the role of serum ANGPTL6 in gestational diabetes mellitus (GDM) or its presence in fetal circulation. RESEARCH DESIGN AND METHODS: A total of 190 women (115 controls and 75 GDM) and their offspring were studied. Insulin, glucose, ANGPTL6, retinol binding protein 4 (RBP4), and retinol, as well as leptin and adiponectin, were determined in maternal serum obtained at term and from umbilical artery blood at delivery. RESULTS: At term, pregnant women with GDM showed higher serum concentrations of ANGPTL6, insulin, homeostatic model assessment, and apo-RBP4 (free RBP4) than controls but not of glucose, which remained similar in both groups. Also, in arterial cord serum, ANGPTL6 concentration was increased in GDM neonates with respect to the control group (201 ±â€…12 ng/mL vs 119 ±â€…8 ng/mL, respectively). No effect of maternal insulin treatment of some GDM mothers in neonates of either sex on ANGPTL6 levels was observed. In GDM, circulating ANGPTL6 showed no correlation with glucose or insulin concentration or with neonatal adiposity. However, in control pregnancies, the variation in glucose concentration was positively correlated with ANGPTL6 concentration, both in maternal and in cord samples, and cord ANGPTL6 was negatively correlated with neonatal fat mass. Furthermore, in control pregnant women, serum concentrations of ANGPTL6 and apo-RBP4 were negatively correlated. CONCLUSION: Serum ANGPTL6 levels are associated with maternal glucose homeostasis and fetal adiposity in normal pregnancy. ANGPTL6 levels in maternal and cord serum GDM pregnancy at term are increased, although its mechanism and physiological role are unknown yet.


Asunto(s)
Diabetes Gestacional , Resistencia a la Insulina , Adiponectina , Proteína 6 similar a la Angiopoyetina , Proteínas Similares a la Angiopoyetina/metabolismo , Animales , Glucemia/metabolismo , Femenino , Glucosa , Homeostasis , Humanos , Recién Nacido , Insulina/metabolismo , Leptina/metabolismo , Embarazo , Proteínas Plasmáticas de Unión al Retinol , Vitamina A
7.
Rev. colomb. anestesiol ; 48(2): 91-95, Jan.-June 2020. graf
Artículo en Inglés | LILACS, COLNAL | ID: biblio-1115562

RESUMEN

Abstract Submental intubation (SMI) is useful in surgical procedures where nasotracheal intubation is contraindicated and orotracheal intubation is not ideal, making it an alternative to tracheostomy since it is performed in less time, with less morbidity and mortality, minimal postoperatory care, as well as an aesthetically acceptable scar. We present 2 cases of pediatric patients with a successful SMI. In addition, we briefly review current literature regarding pediatric population.


Resumen La intubación submentoniana (ISM) es útil en procedimientos quirúrgicos en donde la intubación nasotraqueal está contra indicada y la intubación orotraqueal no es ideal, siendo así una alternativa a la traqueostomía, ya que se realiza en menor tiempo, con menor morbimortalidad y mínimos cuidados posoperatorios, y con una cicatriz estéticamente aceptable. Se presentan dos casos de pacientes pediátricos en los cuales la ISM fue exitosa y se revisa de forma breve la literatura relacionada en población infantil.


Asunto(s)
Humanos , Femenino , Niño , Adolescente , Intubación , Intubación Intratraqueal , Cirugía Bucal , Foramen Mental
9.
Enferm. infecc. microbiol. clín. (Ed. impr.) ; 37(6): 405-409, jun.-jul. 2019.
Artículo en Inglés | IBECS | ID: ibc-189348

RESUMEN

Outpatient parenteral antimicrobial therapy (OPAT) programmes make it possible to start or complete intravenous antimicrobial therapy for practically any type of infection at home, provided that patient selection is appropriate for the type of OPAT programme available. Although the clinical management of infections in the home setting is comparable in many respects to that offered in conventional hospitalization (selection of antibiotics, duration of treatment, etc.), there are many aspects that are specific to this care modality. It is essential to be aware of them so that OPAT continues to be as safe and effective as inpatient care. The objective of this clinical guideline is therefore to provide evidence- and expert-based recommendations with a view to standardizing clinical practice in this care modality and contribute to a progressive increase in the number of patients who can be cared for and receive intravenous therapy in their own homes


Los programas de tratamiento antibiótico domiciliario endovenoso (TADE) permiten iniciar o completar el tratamiento antimicrobiano por vía endovenosa de prácticamente cualquier tipo de infección en el domicilio, siempre y cuando se realice una selección del paciente acorde al tipo de programa de TADE que se dispone. Aunque hay aspectos del manejo clínico de las infecciones en el domicilio que son superponibles en la mayoría de los casos a la realizada en la hospitalización convencional (selección de la antibioterapia, duración del tratamiento, etc.), existen numerosos aspectos que son específicos de esta modalidad asistencial. Resulta imprescindible conocerlos para que el TADE siga siendo igual de eficaz y seguro que la hospitalización convencional. El objetivo de esta guía clínica es por tanto, proporcionar recomendaciones basadas en la evidencia realizadas por expertos para homogeneizar la práctica clínica de esta modalidad asistencial y contribuir a que se incremente progresivamente el número de pacientes que pueden ser atendidos y recibir tratamiento endovenoso en su propio domicilio


Asunto(s)
Humanos , Antiinfecciosos/uso terapéutico , Administración Intravenosa , Servicios de Atención de Salud a Domicilio , Sociedades Médicas/normas , Consenso , Antibacterianos/administración & dosificación , Terapia de Infusión a Domicilio
10.
Artículo en Inglés, Español | MEDLINE | ID: mdl-29784453

RESUMEN

Outpatient parenteral antimicrobial therapy (OPAT) programmes make it possible to start or complete intravenous antimicrobial therapy for practically any type of infection at home, provided that patient selection is appropriate for the type of OPAT programme available. Although the clinical management of infections in the home setting is comparable in many respects to that offered in conventional hospitalization (selection of antibiotics, duration of treatment, etc.), there are many aspects that are specific to this care modality. It is essential to be aware of them so that OPAT continues to be as safe and effective as inpatient care. The objective of this clinical guideline is therefore to provide evidence- and expert-based recommendations with a view to standardizing clinical practice in this care modality and contribute to a progressive increase in the number of patients who can be cared for and receive intravenous therapy in their own homes.


Asunto(s)
Antiinfecciosos/administración & dosificación , Servicios de Atención de Salud a Domicilio/normas , Infecciones/tratamiento farmacológico , Atención Ambulatoria , Humanos
14.
Arch. bronconeumol. (Ed. impr.) ; 54(10): 510-517, oct. 2018. graf, tab
Artículo en Español | IBECS | ID: ibc-176682

RESUMEN

Introducción: El tratamiento con terapias biológicas aumenta la incidencia de enfermedad tuberculosa. La implementación sistemática del cribado de la infección tuberculosa latente en pacientes que van a recibir estas terapias ha conseguido reducir el riesgo de desarrollarla. En 2016 se publicó en España el Documento de consenso sobre la prevención y el tratamiento de la tuberculosis en pacientes candidatos a tratamiento biológico. El objetivo principal del estudio fue evaluar la adherencia al mismo. Métodos: Estudio multicéntrico, descriptivo, observacional en forma de encuesta anónima online, difundida entre las diferentes sociedades médicas que trabajan con biológicos. Resultados: Se recibieron 747 respuestas. La mayoría de los encuestados realizaba el cribado en el momento adecuado y con la indicación correcta (93,7%). Solo un 36,6% de los encuestados solicitaba las pruebas diagnósticas adecuadas, mientras que el 56,3% acertaron las indicaciones de quimioprofilaxis. Hasta el 96% conocía las pautas de quimioprofilaxis recomendadas, mientras que solo el 63,9% las iniciaba en el momento adecuado. La especialidad con más participación y que más realizaba el cribado de infección tuberculosa latente fue reumatología (54%). En la mayoría de los casos, los neumólogos participaban como consultores. Conclusiones: Este estudio pone de manifiesto un bajo grado de adherencia a las recomendaciones, realizando un cumplimiento aceptable el 56% de los encuestados. Enfatizando en las pruebas diagnósticas adecuadas y en el algoritmo diagnóstico de infección tuberculosa latente, se podría reducir aún más la incidencia de enfermedad tuberculosa en los pacientes que van a recibir terapias biológicas


Introduction: Treatment with biological therapies increases the incidence of tuberculous disease. The introduction of systematic screening for latent tuberculosis infection in patients who are to receive these therapies has reduced this risk. In 2016, the consensus document on the prevention and treatment of tuberculosis in patients who are candidates for biological treatment was published in Spain. The main objective of this study was to evaluate adherence to these guidelines. Methods: Multicenter, descriptive, observational study via an anonymous online survey sent to medical societies involved in biologics. Results: We received 747 responses. Most respondents performed screening at the right time in the right patients (93.7%). Only 36.6% of respondents requested the appropriate diagnostic test, while 56.3% correctly recommended chemoprophylaxis. Up to 96% were familiar with the recommended chemoprophylaxis regimens, while only 63.9% initiated them at the right time. The specialist area that participated most and screened most patients for latent tuberculosis infection was rheumatology (54%). In most cases, pulmonologists were involved in an advisory capacity. Conclusions: This study shows poor overall adherence to recommendations, with only 56% of respondents reporting appropriate compliance. The incidence of tuberculous disease in patients who are to receive biological therapies could be reduced further by emphasizing the importance of the right diagnostic test and use of the diagnostic algorithm for latent tuberculosis infection


Asunto(s)
Humanos , Terapia Biológica/métodos , 25580/métodos , Cumplimiento de la Medicación , Quimioprevención/métodos , Tuberculosis Latente/diagnóstico , Tuberculosis/epidemiología , Estudio Observacional , Encuestas y Cuestionarios , Tuberculosis Latente/terapia , Factor de Necrosis Tumoral alfa/análisis
15.
Arch Bronconeumol (Engl Ed) ; 54(10): 510-517, 2018 Oct.
Artículo en Inglés, Español | MEDLINE | ID: mdl-29941293

RESUMEN

INTRODUCTION: Treatment with biological therapies increases the incidence of tuberculous disease. The introduction of systematic screening for latent tuberculosis infection in patients who are to receive these therapies has reduced this risk. In 2016, the consensus document on the prevention and treatment of tuberculosis in patients who are candidates for biological treatment was published in Spain. The main objective of this study was to evaluate adherence to these guidelines. METHODS: Multicenter, descriptive, observational study via an anonymous online survey sent to medical societies involved in biologics. RESULTS: We received 747 responses. Most respondents performed screening at the right time in the right patients (93.7%). Only 36.6% of respondents requested the appropriate diagnostic test, while 56.3% correctly recommended chemoprophylaxis. Up to 96% were familiar with the recommended chemoprophylaxis regimens, while only 63.9% initiated them at the right time. The specialist area that participated most and screened most patients for latent tuberculosis infection was rheumatology (54%). In most cases, pulmonologists were involved in an advisory capacity. CONCLUSIONS: This study shows poor overall adherence to recommendations, with only 56% of respondents reporting appropriate compliance. The incidence of tuberculous disease in patients who are to receive biological therapies could be reduced further by emphasizing the importance of the right diagnostic test and use of the diagnostic algorithm for latent tuberculosis infection.


Asunto(s)
Terapia Biológica , Tuberculosis Latente/diagnóstico , Tuberculosis Latente/terapia , Tamizaje Masivo/normas , Adulto , Anciano , Anciano de 80 o más Años , Femenino , Adhesión a Directriz/estadística & datos numéricos , Encuestas de Atención de la Salud , Humanos , Masculino , Persona de Mediana Edad , España
17.
Int J Clin Pract ; 71(12)2017 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-28949430

RESUMEN

AIM: We analysed the effectiveness and safety of outpatient parenteral antibiotic therapy (OPAT) in acute exacerbation of chronic obstructive pulmonary disease (AECOPD) in patients admitted to home hospitalisation units (HHU). METHODS: Retrospective multicentre study of patients with AECOPD included in the Spanish OPAT Registry during 2 years period. RESULTS: Twenty-seven hospitals included 562 episodes in 361 patients diagnosed COPD GOLD III-IV. The most frequently isolated pathogen was Pseudomonas aeruginosa (38%) and the most frequently used antibiotic was piperacillin-tazobactam (20%). The effectiveness of OPAT defined as the rate of improvement or recovery was 93.4%. The safety of OPAT defined as no adverse drug events and no infectious or catheter-related complications was 89.3%. Moreover, the risk of hospital readmission was not greater in patients with AECOPD aged >80 years. No differences in the effectiveness or safety were observed when OPAT was administered by patients and/or caregivers. CONCLUSION: Patients with AECOPD who require parenteral antimicrobial therapy can be managed effectively and safely in HHU, avoiding hospital stays, readmissions and complications.


Asunto(s)
Antiinfecciosos/uso terapéutico , Servicios de Atención de Salud a Domicilio , Enfermedad Pulmonar Obstructiva Crónica/tratamiento farmacológico , Infecciones del Sistema Respiratorio/tratamiento farmacológico , Administración Intravenosa , Anciano , Atención Ambulatoria , Femenino , Humanos , Masculino , Infecciones del Sistema Respiratorio/microbiología , España
18.
Future Microbiol ; 11(3): 375-90, 2016.
Artículo en Inglés | MEDLINE | ID: mdl-26974259

RESUMEN

AIM: To evaluate outpatient parenteral antimicrobial therapy (OPAT) in the hospital-at-home (HaH) model, using data from a Spanish registry. PATIENTS & METHODS: We describe episodes/characteristics of patients receiving OPAT. RESULTS: Four thousand and five patients were included (mean age 66.2 years), generating 4416 HaH episodes, 4474 infections and 5088 antibiotic treatments. Most patients were from the hospital admission ward and emergency department. Respiratory, urinary and intra-abdominal infections predominated (72%). Forty-six different antimicrobials were used, including combinations of ≥ 2 drugs (20.7%). Most HaH episodes had a successful outcome (91%). CONCLUSION: Our findings are similar to those obtained previously although our study case profiles differ, suggesting that disease processes of greater severity and complexity can be treated using this healthcare model, without compromising patient safety.


Asunto(s)
Antibacterianos/administración & dosificación , Antiinfecciosos/administración & dosificación , Quimioterapia Combinada , Servicios de Atención a Domicilio Provisto por Hospital , Administración Intravenosa , Adolescente , Adulto , Anciano , Anciano de 80 o más Años , Servicio de Urgencia en Hospital , Femenino , Terapia de Infusión a Domicilio , Humanos , Infecciones Intraabdominales/tratamiento farmacológico , Masculino , Persona de Mediana Edad , Seguridad del Paciente/estadística & datos numéricos , Sistema de Registros , Infecciones del Sistema Respiratorio/tratamiento farmacológico , Estudios Retrospectivos , España , Resultado del Tratamiento , Infecciones Urinarias/tratamiento farmacológico , Adulto Joven
19.
Arch Dis Child ; 101(6): 521-526, 2016 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-26811367

RESUMEN

BACKGROUND: Loss of consciousness (LOC) is often seen in children. The response of caregivers to a child with LOC has been poorly investigated. Potential caregivers (parents, teachers) seem to have a poor knowledge of the recovery position (RP)-that is, the position into which an unconscious child should be placed in order to protect the airway. OBJECTIVES: To report the management and diagnoses of LOC in childhood, and to evaluate variables associated with an increased hospital admission rate. METHODS: We conducted a prospective cohort study of consecutive children aged between 0 and 18 years diagnosed with LOC at 11 paediatric emergency departments (PEDs) of 6 European countries. The enrolment period was 3 months. Data were obtained from parental interviews, PED reports and clinical examination. RESULTS: 553 children were enrolled. The most frequent final diagnoses causing LOC were seizures (n=278, 50.3%), and vasovagal syncope (n=124, 22.4%). Caregivers put the child in the RP in 145 cases (26.2%). The RP was independently associated with a significant decrease in the admission rate (aOR=0.28; 95% CI 0.17 to 0.48; p<0.0001). CONCLUSIONS: Our study demonstrates for the first time that the RP may reduce the admission rate of infants with LOC. Caregivers often perform inadequate manoeuvres when a child becomes unconscious. Campaigns aiming at increasing knowledge of the RP should be promoted.


Asunto(s)
Posicionamiento del Paciente/estadística & datos numéricos , Readmisión del Paciente/estadística & datos numéricos , Inconsciencia/terapia , Adolescente , Obstrucción de las Vías Aéreas/prevención & control , Niño , Preescolar , Servicio de Urgencia en Hospital/estadística & datos numéricos , Europa (Continente) , Femenino , Humanos , Lactante , Recién Nacido , Masculino , Admisión del Paciente/estadística & datos numéricos , Estudios Prospectivos , Convulsiones/complicaciones , Síncope Vasovagal/complicaciones , Inconsciencia/etiología
20.
Am J Med Genet A ; 167A(8): 1865-71, 2015 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-25988649

RESUMEN

Many chromosomal deletions encompassing the 2q23.1 region have been described ranging from small deletions of 38 kb up to >19 Mb. Most phenotypic features of the 2q23.1 deletion syndrome are due to a MBD5 gene loss independent of the size of the deletion. Here, we describe a male patient harboring a novel interstitial deletion encompassing the 2q22.3 q23.3 chromosomal region. Array-CGH revealed a 7.1 Mb deletion causing haploinsufficiency of several genes including MBD5, ACVR2, KIF5C, and EPC2. This patient presents with additional findings to those already described in individuals who have deletions of MBD5 including toes absence of halluces, pure red cell aplasia, and intestinal aganglionosis. Interestingly, in the deleted region there are previously identified regulatory sequences which are located upstream to ZEB2, which is associated with Hirschsprung disease (HSCR). Several genes have been associated with pure red cell aplasia, but to our knowledge, this is the first time that 2q deletion is associated with this phenotype. These additional findings should be added to the list of manifestations associated with 2q deletion, and provide support for the hypothesis that this individual has a true contiguous gene deletion syndrome.


Asunto(s)
Huesos/anomalías , Deleción Cromosómica , Cromosomas Humanos Par 2 , Aplasia Pura de Células Rojas/genética , Hibridación Genómica Comparativa , Epilepsia/genética , Humanos , Recién Nacido , Masculino
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