lunes, 27 de junio de 2011

Feocromocitoma

Cuadros Chavez posted in cibermedicos.Maximo Cuadros Chavez10:07am Jun 26

PUNTOS CLAVE:
Concepto. El feocromocitoma es un tumor poco frecuente, pero su malignidad funcional y su 10% de malignidad histológica obligan a pensar en él. Debemos tener en cuenta que el 15-20% es de localización extraadrenal.

Clínica. La clínica está marcada por la hipertensión arterial, frecuentemente paroxística, en la que puede haber graves complicaciones: infarto de miocardio, accidente vascular cerebral, etc. ¿ Es imprescindible establecer el tratamiento quirúrgico lo antes posible.

Preparación preoperatoria. El paciente debe llegar a la cirugía con bloqueo alfa-adrenérgico. ¿ El anestesista debe conocer el manejo de estos tumores, tanto para la inducción de la anestesia como para solventar los problemas que surjan en el acto quirúrgico.

Feocromocitoma: actualización diagnóstica y terapéutica
http://www.facebook.com/l/338ffgVppqwxv9qOUEFcGQ-GJYw/www.elsevier.es/watermark/ctl_servlet?_f=10&pident_articulo=13120617&pident_usuario=0&pident_revista=12&fichero=12v55n05a13120617pdf001.pdf&ty=129&accion=L&origen=medicine&web=www.medicineonline.es&lan=es
Endocrinol Nutr. 2008;55:202-16.
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---------- Mensaje reenviado ----------
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Fecha: 26 de junio de 2011 10:07
Asunto: [cibermedicos] Feocromocitoma
Para: cibermedicos <internetymedicos@groups.facebook.com>

Maximo Cuadros Chavez posted in cibermedicos.

Maximo Cuadros Chavez

10:07am Jun 26

Feocromocitoma
http://www.facebook.com/l/338ffmF_D4jZcTuKUtQ1Hnnl8Eg/www.elsevier.es/watermark/ctl_servlet?_f=10&pident_articulo=13125936&pident_usuario=0&pident_revista=62&fichero=62v10n15a13125936pdf001.pdf&ty=147&accion=L&origen=medicine&web=www.medicineonline.es&lan=es
Medicine. 2008;10:997-1005.

PUNTOS CLAVE:
Concepto. El feocromocitoma es un tumor poco frecuente, pero su malignidad funcional y su 10% de malignidad histológica obligan a pensar en él. Debemos tener en cuenta que el 15-20% es de localización extraadrenal.

Clínica. La clínica está marcada por la hipertensión arterial, frecuentemente paroxística, en la que puede haber graves complicaciones: infarto de miocardio, accidente vascular cerebral, etc. ¿ Es imprescindible establecer el tratamiento quirúrgico lo antes posible.

Preparación preoperatoria. El paciente debe llegar a la cirugía con bloqueo alfa-adrenérgico. ¿ El anestesista debe conocer el manejo de estos tumores, tanto para la inducción de la anestesia como para solventar los problemas que surjan en el acto quirúrgico.

Feocromocitoma: actualización diagnóstica y terapéutica
http://www.facebook.com/l/338ffgVppqwxv9qOUEFcGQ-GJYw/www.elsevier.es/watermark/ctl_servlet?_f=10&pident_articulo=13120617&pident_usuario=0&pident_revista=12&fichero=12v55n05a13120617pdf001.pdf&ty=129&accion=L&origen=medicine&web=www.medicineonline.es&lan=es
Endocrinol Nutr. 2008;55:202-16.

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domingo, 12 de junio de 2011

viernes, 10 de junio de 2011

mas sibre crisis hta

http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2653652/?tool=pmcentrezhttp://www.ncbi.nlm.nih.gov/pmc/articles/PMC3011090/?tool=pmcentrez

http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3011090/?tool=pmcentrez

quias de Hta CRISIS

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recetores betaadrenergicos

jueves, 9 de junio de 2011

algo sobre HTA

domingo, 5 de junio de 2011

REMPLAZO DE VALVULA AORTICA CON CATETER

http://www.nejm.org/doi/pdf/10.1056/NEJMoa1103510

Original Article

Transcatheter versus Surgical Aortic-Valve Replacement in High-Risk Patients

Craig R. Smith, M.D., Martin B. Leon, M.D., Michael J. Mack, M.D., D. Craig Miller, M.D., Jeffrey W. Moses, M.D., Lars G. Svensson, M.D., Ph.D., E. Murat Tuzcu, M.D., John G. Webb, M.D., Gregory P. Fontana, M.D., Raj R. Makkar, M.D., Mathew Williams, M.D., Todd Dewey, M.D., Samir Kapadia, M.D., Vasilis Babaliaros, M.D., Vinod H. Thourani, M.D., Paul Corso, M.D., Augusto D. Pichard, M.D., Joseph E. Bavaria, M.D., Howard C. Herrmann, M.D., Jodi J. Akin, M.S., William N. Anderson, Ph.D., Duolao Wang, Ph.D., and Stuart J. Pocock, Ph.D. for the PARTNER Trial Investigators

June 5, 2011 (10.1056/NEJMoa1103510)

Comments open through June 15, 2011

Abstract
Article
References
Comments: Background

The use of transcatheter aortic-valve replacement has been shown to reduce mortality among high-risk patients with aortic stenosis who are not candidates for surgical replacement. However, the two procedures have not been compared in a randomized trial involving high-risk patients who are still candidates for surgical replacement.

Full Text of Background...

Methods

At 25 centers, we randomly assigned 699 high-risk patients with severe aortic stenosis to undergo either transcatheter aortic-valve replacement with a balloon-expandable bovine pericardial valve (either a transfemoral or a transapical approach) or surgical replacement. The primary end point was death from any cause at 1 year. The primary hypothesis was that transcatheter replacement is not inferior to surgical replacement.

Full Text of Methods...

Results

The rates of death from any cause were 3.4% in the transcatheter group and 6.5% in the surgical group at 30 days (P=0.07) and 24.2% and 26.8%, respectively, at 1 year (P=0.44), a reduction of 2.6 percentage points in the transcatheter group (upper limit of the 95% confidence interval, 3.0 percentage points; predefined margin, 7.5 percentage points; P=0.001 for noninferiority). The rates of major stroke were 3.8% in the transcatheter group and 2.1% in the surgical group at 30 days (P=0.20) and 5.1% and 2.4%, respectively, at 1 year (P=0.07). At 30 days, major vascular complications were significantly more frequent with transcatheter replacement (11.0% vs. 3.2%, P<0.001); adverse events that were more frequent after surgical replacement included major bleeding (9.3% vs. 19.5%, P<0.001) and new-onset atrial fibrillation (8.6% vs. 16.0%, P=0.006). More patients undergoing transcatheter replacement had an improvement in symptoms at 30 days, but by 1 year, there was not a significant between-group difference.

Full Text of Results...

Conclusions

In high-risk patients with severe aortic stenosis, transcatheter and surgical procedures for aortic-valve replacement were associated with similar rates of survival at 1 year, although there were important differences in periprocedural risks. (Funded by Edwards Lifesciences; Clinical Trials.gov number, NCT00530894.)

Full Text of Discussion...

Read the Full Article...

Media in This Article

Video

Transcatheter Aortic-Valve Replacement.

Figure 1Transcatheter Aortic-Valve Replacement.

jueves, 2 de junio de 2011

mas sobre labetalol en crisis

http://www.ncbi.nlm.nih.gov/pubmed/7093106

Emergencias hipertensivas

http://www.ncbi.nlm.nih.gov/pubmed/1417052
http://www.ncbi.nlm.nih.gov/pubmed/2686494
http://www.ncbi.nlm.nih.gov/pubmed/2826083

articulos sobre labetalol

viernes, 7 de enero de 2011

BOLETIN CARDIOLOGICO

BOLETIN CARDIOLOGICO Nº 6

Boletin-Nº 6.pdf
5074 K Ver Descargar

https://mail.google.com/mail/?ui=2&ik=14d8f0f8db&view=att&th=12d6240bbd2d12b7&attid=0.1&disp=attd&zw

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De: Sociedad Peruana De Cardiología <peru@sopecard.org>
Fecha: 7 de enero de 2011 15:47
Asunto: BOLETIN CARDIOLOGICO
Para: sopecard@hotmail.com

BOLETIN CARDIOLOGICO Nº 6

jueves, 6 de enero de 2011

Síndrome coronario agudo. Conceptos....

Maximo Cuadros Chavez posted in cibermedicos.Maximo Cuadros Chavez10:42pm Jan 6

Síndrome coronario agudo. Conceptos. Epidemiología. Fisiopatología. Nomenclatura
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Síndrome coronario agudo. Conceptos....

Maximo Cuadros Chavez posted in cibermedicos.Maximo Cuadros Chavez10:42pm Jan 6

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tratamiento de caquexia

Manejo de la caquexia en oncología
Treatment of cachexia in oncology
EM Tazi, H Errihani
Indian J Paliative Care 2010:16;136-144. DOI: 10.4103/0973-1075.73644

Background: Cachexia is a complex metabolic syndrome associated with many chronic or end-stage diseases, especially cancer, and is characterized by loss of muscle with or without loss of fat mass. The management of cachexia is a complex challenge that should address the different causes underlying this clinical event with an integrated or multimodal treatment approach targeting the different factors involved in its pathophysiology. Aims and Objectives : The purpose of this article was to review the current medical treatment of cancer-related cachexia, in particular focusing on combination therapy and ongoing research. Results : Among the treatments proposed in the literature for cancer-related cachexia, some proved to be ineffective, namely, cyproheptadine, hydrazine, metoclopramide, and pentoxifylline. Among effective treatments, progestagens are currently considered the best available treatment option for cancer-related cachexia, and they are the only drugs approved in Europe. Drugs with a strong rationale that have failed or have not shown univocal results in clinical trials so far include eicosapentaenoic acid, cannabinoids, bortezomib, and anti-TNF-alpha MoAb. Several emerging drugs have shown promising results but are still under clinical investigation (thalidomide, selective cox-2 inhibitors, ghrelin mimetics, insulin, oxandrolone, and olanzapine). Conclusions : To date, despite several years of coordinated efforts in basic and clinical research, practice guidelines for the prevention and treatment of cancer-related muscle wasting are lacking, mainly because of the multifactorial pathogenesis of the syndrome. From all the data presented, one can speculate that one single therapy may not be completely successful in the treatment of cachexia. From this point of view, treatments involving different combinations are more likely to be successful.
Enlace para leer el artículo completo:
http://www.jpalliativecare.com

: Eplerenone for Mild Heart Failure/Bipolar Depression

conversation.

Teaching Topic
Eplerenone for Mild Heart Failure
Original Article
Eplerenone in Patients with Systolic Heart Failure and Mild Symptoms
F. Zannad and Others

In the placebo-controlled Randomized Aldactone Evaluation Study (RALES), adding the mineralocorticoid-receptor antagonist spironolactone to recommended therapy in patients with systolic heart failure and moderate-to-severe symptoms (i.e., New York Heart Association [NYHA] functional class III or IV symptoms) decreased the rate of death from any cause and the risk of hospitalization for cardiovascular reasons.
Clinical Pearls
What was the aim of this study?
The aim of this study was to investigate the effects of eplerenone, added to evidence-based therapy, on clinical outcomes in patients with systolic heart failure and mild symptoms (i.e., NYHA functional class II symptoms).
What is the mechanism of action of eplerenone?
Eplerenone is a selective mineralocorticoid-receptor antagonist.
Table 2. Primary Outcome, Component Events, and Key Secondary Outcomes.
Morning Report Questions
Q. Why was this trial stopped prematurely?
A. The trial was stopped prematurely for efficacy, according to prespecified rules, after a median follow-up period of 21 months. The primary outcome occurred in 18.3% of patients in the eplerenone group as compared with 25.9% in the placebo group (hazard ratio, 0.63; 95% confidence interval [CI], 0.54 to 0.74; P<0.001). A total of 12.5% of patients receiving eplerenone and 15.5% of those receiving placebo died (hazard ratio, 0.76; 95% CI, 0.62 to 0.93; P=0.008); 10.8% and 13.5%, respectively, died of cardiovascular causes (hazard ratio, 0.76; 95% CI, 0.61 to 0.94; P=0.01). Hospitalizations for heart failure and for any cause were also reduced with eplerenone.
Q. What adverse effect complicated treatment with eplerenone?
A. A serum potassium level above 5.5 mmol per liter was reported in 158 patients (11.8%) in the eplerenone group and 96 patients (7.2%) in the placebo group (P<0.001). Hypokalemia was significantly less common in the eplerenone- as compared to the placebo-treated group.

sábado, 1 de enero de 2011

Current Cardiology Reviews (1 - 2) 2010

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Current Cardiology Reviews (1 - 2) 2010

Current Cardiology Reviews
Issue: 1, February 2010
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Murillo Santucci Cesar de Assunção
Unidade de Terapia Intensiva adulto
Disciplina de Anestesiologia, Dor e Terapia Intensiva
Escola Paulista de Medicina
Rua Napoleão de Barros,715
Vila Clementino - São Paulo - CEP: 04024-002
Tel/Fax: +55-11-55757768
Tel/Fax: +55-11- 55764069
m.assuncao@unifesp.br
murilloassuncao@gmail.com

jueves, 30 de diciembre de 2010

Sindrome de Apert

Apert Syndrome

Author: Harold Chen, MD, MS, FAAP, FACMG, Professor, Departments of Pediatrics, Obstetrics and Gynecology, and Pathology, Director of Genetic Laboratory Services, Louisiana State University Medical Center
Contributor Information and Disclosures

Updated: Sep 2, 2009

Information from Industry

Clinical studies in treating eczema with colloidal oatmeal- based skincare
Over-the-counter, colloidal oatmeal-based skincare regimen proven in 2 clinical studies in eczema.
Review clinical trial data

Introduction

Background

Apert syndrome is named for the French physician who described the syndrome acrocephalosyndactylia in 1906.
Apert syndrome is a rare autosomal dominant disorder characterized by craniosynostosis, craniofacial anomalies, and severe symmetrical syndactyly (cutaneous and bony fusion) of the hands and feet.
An infant with Apert syndrome is shown. Note the characteristic ocular hypertelorism, down-slanting palpebral fissures, proptotic eyes, horizontal groove above the supraorbital ridge, break of the continuity of eyebrows, depressed nasal bridge, and short wide nose with bulbous tip.

[ CLOSE WINDOW ]

An infant with Apert syndrome is shown. Note the characteristic ocular hypertelorism, down-slanting palpebral fissures, proptotic eyes, horizontal groove above the supraorbital ridge, break of the continuity of eyebrows, depressed nasal bridge, and short wide nose with bulbous tip.
Note the mitten appearance of the hands with syndactyly involving the second, third, fourth, and fifth fingers. This patient also has characteristic concave palms, hitchhiker posture (radial deviation) of short broad thumbs, and contiguous nailbeds (synonychia).

[ CLOSE WINDOW ]

Note the mitten appearance of the hands with syndactyly involving the second, third, fourth, and fifth fingers. This patient also has characteristic concave palms, hitchhiker posture (radial deviation) of short broad thumbs, and contiguous nailbeds (synonychia).
Note the sock appearance of the feet with syndactyly involving the second, third, fourth, and fifth toes. The patient also has contiguous nail beds (synonychia).

[ CLOSE WINDOW ]

Note the sock appearance of the feet with syndactyly involving the second, third, fourth, and fifth toes. The patient also has contiguous nail beds (synonychia).
In this profile, turribrachycephaly, high prominent forehead, proptosis, depressed nasal bridge, short nose, and low-set ears are prominent.

[ CLOSE WINDOW ]

In this profile, turribrachycephaly, high prominent forehead, proptosis, depressed nasal bridge, short nose, and low-set ears are prominent.
This radiograph demonstrates turribrachycephaly, shallow orbits, ocular hypertelorism, and hypoplastic maxilla.

[ CLOSE WINDOW ]

This radiograph demonstrates turribrachycephaly, shallow orbits, ocular hypertelorism, and hypoplastic maxilla.
Note osseous syndactyly involving the second, third, fourth, and fifth fingers; multiple synostosis involving distal phalanges and proximal fourth and fifth metacarpals; symphalangism of interphalangeal joints; shortening and radial deviation of distal phalanx; and delta-shaped deformity of proximal phalanx of the thumbs.

[ CLOSE WINDOW ]

Note osseous syndactyly involving the second, third, fourth, and fifth fingers; multiple synostosis involving distal phalanges and proximal fourth and fifth metacarpals; symphalangism of interphalangeal joints; shortening and radial deviation of distal phalanx; and delta-shaped deformity of proximal phalanx of the thumbs.
Note osseous syndactyly, fusion of interphalangeal joints, synostosis involving proximal first and second metatarsals, and partially duplicated and delta-shaped proximal phalanx of the great toes.

[ CLOSE WINDOW ]

Note osseous syndactyly, fusion of interphalangeal joints, synostosis involving proximal first and second metatarsals, and partially duplicated and delta-shaped proximal phalanx of the great toes.
It is probably the most familiar and best-described type of acrocephalosyndactyly.
Reproductive fitness is low, and more than 98% of cases arise by new mutation.

Pathophysiology

During early infancy (<3 mo), the coronal suture area is prematurely closed. A bony condensation line beginning at the cranial base and extending upward with a characteristic posterior convexity represents this occurrence. Anterior and posterior fontanelles are widely patent. The midline of the calvaria has a gaping defect, extending from the glabellar area to the posterior fontanelle via the metopic suture area, anterior fontanelle, and sagittal suture area. The skull with a gaping midline defect appears to permit adequate accommodation of the growing brain. The lambdoidal sutures appear normal in all cases.
During the first 2-4 years of life, the midline defect is obliterated by coalescence of the enlarging bony islands without evidence of any proper formation of sutures. An extreme short squama and orbital part of the frontal bone together with the posterior convexity of the coronal bone condensation line suggest that growth inhibition in the sphenofrontal and coronal suture area has its onset very early in fetal life.
Unique fibroblast growth factor receptor 2 (FGFR2) mutations lead to an increase in the number of precursor cells that enter the osteogenic pathway. Ultimately, this leads to increased subperiosteal bone matrix formation and premature calvaria ossification during fetal development. The order and rate of suture fusion determine the degree of deformity and disability. Once a suture becomes fused, growth perpendicular to that suture becomes restricted, and the fused bones act as a single bony structure. Compensatory growth occurs at the remaining open sutures to allow continued brain growth; however, complex, multiple sutural synostosis frequently extends to premature fusion of the sutures at the base of the skull, causing midfacial hypoplasia, shallow orbits, a foreshortened nasal dorsum, maxillary hypoplasia, and occasional upper airway obstruction.
The first genetic evidence that syndactyly in Apert syndrome is a keratinocyte growth factor receptor (KGFR)-mediated effect was provided by the observation of the correlation between KGFR expression in fibroblasts and severity of syndactyly. Patients with Ser252Trp and those with Pro253Arg have different phenotypic expression. The syndactyly is more severe with Pro253Arg mutation for both hands and feet, whereas cleft palate is significantly more common with Ser252Trp mutation.¹
Amblyopia and strabismus is more common in patients with the FGFR2 Ser252Trp mutation, and optic disc pallor is more frequent in patients with the FGFR2 Pro253Arg mutation.² Patients with FGR2 Ser252Trp mutations have a significantly greater prevalence of visual impairment compared with patients with the FGFR2 Pro253Arg mutation.^3,4

Frequency

United States

Prevalence is estimated at 1 in 65,000 (approximately 15.5 in 1,000,000) live births.^5,6,7
Apert syndrome accounts for 4.5% of all cases of craniosynostosis.

Mortality/Morbidity

Most patients experience some degree of upper airway obstruction during infancy. Upper airway compromise due to reduction in nasopharynx size and choanal patency as well as lower airway compromise due to anomalies of the tracheal cartilage may be responsible for early death.
Sleep apnea syndrome is common. Upper airway compromise, consisting of obstructive sleep apnea and cor pulmonale, may result from small nasopharyngeal and oropharyngeal dimension in the Apert craniofacial configuration.
Patients are at risk for complications resulting from elevated intracranial pressure despite surgical attempts to increase cranial capacity in infancy.

Race

Asians have the highest prevalence (22.3 cases per million live births).
Hispanics have the lowest prevalence (7.6 cases per million live births).

Sex

Apert syndrome has no sex predilection.

Age

Apert syndrome is detected in the newborn period due to craniosynostosis and associated findings of syndactyly in the hands and feet.

Clinical

History

Family history is usually not significant because most cases of Apert syndrome are sporadic. A paternal age effect increases in fathers older than 50 years.
Headache and vomiting are signs of acute increased intracranial pressure, especially in cases of multiple suture involvement.
Stridor and sleep apnea indicate problems with the upper airway, resulting from craniosynostosis of sutures of the base of the skull.
Visual disturbance can result from corneal injury due to exposed conjunctivitis and keratitis.
Many patients exhibit mental retardation, although patients with normal intelligence have been reported.

Physical

Skull and face
- Craniostenosis is present. Coronal sutures most commonly are involved, resulting in acrocephaly, brachycephaly, turribrachycephaly, flat occiput, and high prominent forehead.
- Large late-closing fontanels are observed.
- A gaping midline defect is present.
- A rare cloverleaf skull anomaly is present in approximately 4% of infants.
- Common facial features during infancy include horizontal grooves above the supraorbital ridges that disappear with age, a break in the continuity of the eyebrows, and a trapezoid-shaped mouth at rest.
- A flattened, often asymmetric face is observed.
- Maxillary hypoplasia with retruded midface is present.
Ears, eyes, nose, and mouth
- Patients have apparent low-set ears with occasional conductive hearing loss and congenital fixation of stapedial footplate.
- Eyes exhibit down-slanting palpebral fissures, hypertelorism, shallow orbits, proptosis, exophthalmos, strabismus, amblyopia, optic atrophy, and, rarely, luxation of the eye globes, keratoconus, ectopic lentis, congenital glaucoma, lack of pigment in the fundi with occasional papilledema, and preventable visual loss or blindness.
- The nose has a markedly depressed nasal bridge. It is short and wide with a bulbous tip, parrot-beaked appearance, and choanal stenosis or atresia.
- The mouth area has a prominent mandible, down-turned corners, high arched palate, bifid uvula, and cleft palate.
- Orthodontic problems include crowded upper teeth, malocclusion, delayed dentition, ectopic eruption, shovel-shaped incisors, supernumerary teeth, V-shaped maxillary dental arch, bulging alveolar ridges, dentitio tarda, some impaction, partial eruption, idiopathic root resorption, transposition or other aberrations in the position of the tooth germs, and severe crowding.
Extremities and digits
- The upper limbs are more severely affected than lower limbs. Coalition of distal phalanges and synonychia found in the hands is never present in the feet. The glenohumeral joint and proximal humerus are more severely affected than the pelvic girdle and femur. The elbow is much less severely involved than the proximal portion of the upper limb.
- Syndactyly involves the hands and feet with partial-to-complete fusion of the digits, often involving second, third, and fourth digits. These are often termed mitten hands and sock feet. In severe cases, all digits are fused, with the palm deeply concave and cup-shaped and the sole supinated.
- Hitchhiker posture or radial deviation of short or broad thumbs results from abnormal proximal phalanx.
- Brachydactyly occurs.
- Nailbeds are contiguous (synonychia).
- Some patients have subacromial dimples and elbow dimples during infancy.
- Mobility at the glenohumeral joint is limited with progressive limitation in abduction, forward flexion, and external rotation with growth.
- Limited elbow mobility is common with decreased elbow extension, flexion, pronation, and supination.
- Short humeri are a constant finding beyond infancy.
- Limited genu valga is present in many cases.
CNS
- Intelligence varies from normal to mental deficiency, although a significant number of patients are mentally retarded. Malformations of the CNS may be responsible for most cases.
- Common CNS malformations include megalencephaly, agenesis of the corpus callosum, malformed limbic structures, variable ventriculomegaly, encephalocele, gyral abnormalities, hypoplastic cerebral white matter, pyramidal tract abnormalities, and heterotopic gray matter. Progressive hydrocephalus is uncommon.
- Papilledema and optic atrophy with loss of vision may be present in cases of subtle increased intracranial pressure.
Other skeletal and cartilaginous segmentation defects
- Congenital cervical spinal fusion (68%), especially C5-C6
- Aplasia or ankylosis of shoulder, elbow, and hip joints
- Tracheal cartilage anomalies
- Rhizomelia
Skin
- Hyperhidrosis (common)
- Synonychia
- Brittle nails
- Acneiform lesions (frequent after adolescence)
- Interruption of the eyebrows
- Hypopigmentation
- Hyperkeratosis in the plantar surface
- Paronychial infections (more common in feet than hands and in patients who are institutionalized patients)
- Excessive skin wrinkling of forehead
- Skin dimples at knuckles, shoulders, and elbows
Cardiovascular (10%)
- Atrial septal defect
- Patent ductus arteriosus
- Ventricular septal defect
- Pulmonary stenosis
- Overriding aorta
- Coarctation of aorta
- Dextrocardia
- Tetralogy of Fallot
- Endocardial fibroelastosis
Genitourinary (9.6%)
- Polycystic kidneys
- Duplication of renal pelvis
- Hydronephrosis
- Stenosis of bladder neck
- Bicornuate uterus
- Vaginal atresia
- Protuberant labia majora
- Clitoromegaly
- Cryptorchidism
GI (1.5%)
- Pyloric stenosis
- Esophageal atresia and tracheoesophageal fistula
- Ectopic or imperforate anus
- Partial biliary atresia with agenesis of gallbladder
Respiratory (1.5%)
- Anomalous tracheal cartilage
- Tracheoesophageal fistula
- Pulmonary aplasia
- Absent right middle lobe of lung
- Absent interlobular lung fissures

Causes

More than 98% of cases with Apert syndrome are caused by specific missense substitution mutations, involving adjacent amino acids (ie, Ser252Trp, Ser252Phe, Pro253Arg) in the linker between the second and third extracellular immunoglobulin domains of FGFR2, which maps to chromosome bands 10q26. The remaining cases are due to Alu-element insertion mutations in or near exon 9 of FGFR2.
Most cases are sporadic, resulting from new mutations with a paternal age effect. The incidence of FGFR2 mutations increases exponentially with paternal age, probably due to an increase in the frequency of these mutations and a selective advantage in the male germ line.^8,9
Most new mutations, estimated at 1 per 65,000 live births, imply that germline transversion rates at these 2 positions are currently the highest known in the human genome. The rarity of familial cases can be explained by reduced genetic fitness of individuals because of severe malformations and the presence of mental retardation in many cases.

More on Apert Syndrome

Overview: Apert Syndrome

Differential Diagnoses & Workup: Apert Syndrome

Treatment & Medication: Apert Syndrome

Follow-up: Apert Syndrome

lunes, 27 de junio de 2011

domingo, 12 de junio de 2011

viernes, 10 de junio de 2011

jueves, 9 de junio de 2011

domingo, 5 de junio de 2011

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Background

Methods

Results

Conclusions

Media in This Article

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Apert Syndrome

Information from Industry

Introduction

Background

An infant with Apert syndrome is shown. Note the characteristic ocular hypertelorism, down-slanting palpebral fissures, proptotic eyes, horizontal groove above the supraorbital ridge, break of the continuity of eyebrows, depressed nasal bridge, and short wide nose with bulbous tip.

An infant with Apert syndrome is shown. Note the characteristic ocular hypertelorism, down-slanting palpebral fissures, proptotic eyes, horizontal groove above the supraorbital ridge, break of the continuity of eyebrows, depressed nasal bridge, and short wide nose with bulbous tip.

Note the mitten appearance of the hands with syndactyly involving the second, third, fourth, and fifth fingers. This patient also has characteristic concave palms, hitchhiker posture (radial deviation) of short broad thumbs, and contiguous nailbeds (synonychia).

Note the mitten appearance of the hands with syndactyly involving the second, third, fourth, and fifth fingers. This patient also has characteristic concave palms, hitchhiker posture (radial deviation) of short broad thumbs, and contiguous nailbeds (synonychia).

Note the sock appearance of the feet with syndactyly involving the second, third, fourth, and fifth toes. The patient also has contiguous nail beds (synonychia).

Note the sock appearance of the feet with syndactyly involving the second, third, fourth, and fifth toes. The patient also has contiguous nail beds (synonychia).

In this profile, turribrachycephaly, high prominent forehead, proptosis, depressed nasal bridge, short nose, and low-set ears are prominent.

In this profile, turribrachycephaly, high prominent forehead, proptosis, depressed nasal bridge, short nose, and low-set ears are prominent.

This radiograph demonstrates turribrachycephaly, shallow orbits, ocular hypertelorism, and hypoplastic maxilla.

This radiograph demonstrates turribrachycephaly, shallow orbits, ocular hypertelorism, and hypoplastic maxilla.

Note osseous syndactyly, fusion of interphalangeal joints, synostosis involving proximal first and second metatarsals, and partially duplicated and delta-shaped proximal phalanx of the great toes.

Note osseous syndactyly, fusion of interphalangeal joints, synostosis involving proximal first and second metatarsals, and partially duplicated and delta-shaped proximal phalanx of the great toes.

Pathophysiology

Frequency

United States

Mortality/Morbidity

Race

Sex

Age

Clinical

History

Physical

Causes

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