Síndrome de Saethre-Chotzen: a propósito de un caso / Saethre-Chotzen syndrome: a case report

El síndrome de Saethre-Chotzen es un síndrome malformativo craneofacial caracterizado por una sinostosis de las suturas coronales y alteraciones de extremidades. Tiene una prevalencia de 1 de cada 25 000-50 000 recién nacidos vivos. Se presenta el caso de un neonato sin antecedentes de interés con alteraciones craneofaciales al nacer. Ante los rasgos fenotípicos del paciente, se realizó una tomografía axial computada craneal, que mostró la fusión parcial de la sutura coronal y evidenció la presencia de huesos wormianos en localización metópica y lambdoidea derecha. Con la sospecha clínica de síndrome malformativo craneofacial, se solicitó análisis del exoma dirigido, que confirmó que el paciente era portador heterocigoto de la variante patogénica c.415C>A, que inducía un cambio de prolina a treonina en la posición 139 del gen TWIST1, responsable del síndrome. La presencia de huesos wormianos, hallazgo no descrito hasta ahora en la literatura, amplía la variabilidad fenotípica conocida de este síndrome.

The Saethre-Chotzen syndrome is a craniofacial malformation syndrome characterized by synostosis of coronal sutures and limb anomalies. The estimated prevalence of this syndrome is 1 in 25 000-50 000 live births. We present a case report of a neonate, without relevant family history, who presented craniofacial alterations at birth. Given the phenotypic features, a cranial computed tomography scan was performed, showing partial fusion of the coronal suture, evidencing the presence of wormian bones in the metopic and right lambdoid location. With the clinical suspicion of craniofacial malformation syndrome, an analysis of the directed exome was requested confirming that the patient is a heterozygous carrier of the pathogenic variant c.415C>A, which induces a change of proline to threonine at position 139 of the TWIST1 gene, responsible for Saethre-Chotzen syndrome.The presence of wormian bones, a finding not described so far in the literature, extends the well-known phenotypic variability of this syndrome.

[Saethre-Chotzen syndrome: a case report]. / Síndrome de Saethre-Chotzen: a propósito de un caso.

The Saethre-Chotzen syndrome is a craniofacial malformation syndrome characterized by synostosis of coronal sutures and limb anomalies. The estimated prevalence of this syndrome is 1 in 25 000-50 000 live births. We present a case report of a neonate, without relevant family history, who presented craniofacial alterations at birth. Given the phenotypic features, a cranial computed tomography scan was performed, showing partial fusion of the coronal suture, evidencing the presence Síndrome de Saethre-Chotzen: a propósito de un caso Saethre-Chotzen syndrome: a case report of wormian bones in the metopic and right lambdoid location. With the clinical suspicion of craniofacial malformation syndrome, an analysis of the directed exome was requested confirming that the patient is a heterozygous carrier of the pathogenic variant c.415C>A, which induces a change of proline to threonine at position 139 of the TWIST1 gene, responsible for Saethre-Chotzen syndrome. The presence of wormian bones, a finding not described so far in the literature, extends the well-known phenotypic variability of this syndrome.

El síndrome de Saethre-Chotzen es un síndrome malformativo craneofacial caracterizado por una sinostosis de las suturas coronales y alteraciones de extremidades. Tiene una prevalencia de 1 de cada 25 000-50 000 recién nacidos vivos. Se presenta el caso de un neonato sin antecedentes de interés con alteraciones craneofaciales al nacer. Ante los rasgos fenotípicos del paciente, se realizó una tomografía axial computada craneal, que mostró la fusión parcial de la sutura coronal y evidenció la presencia de huesos wormianos en localización metópica y lambdoidea derecha. Con la sospecha clínica de síndrome malformativo craneofacial, se solicitó análisis del exoma dirigido, que confirmó que el paciente era portador heterocigoto de la variante patogénica c.415C>A, que inducía un cambio de prolina a treonina en la posición 139 del gen TWIST1, responsable del síndrome. La presencia de huesos wormianos, hallazgo no descrito hasta ahora en la literatura, amplía la variabilidad fenotípica conocida de este síndrome.

Implementation of a Life-Sustaining Management and Alternative Protocol for Actively Dying Patients in the Emergency Department.

PROBLEM: The aging population and the growing number of home hospice patients have resulted in increased utilization of emergency departments. This situation poses a clinical challenge to the ED staff in determining when lifesaving treatment is indicated and when end of life care begins. METHODS: Through a shared governance model, ED physicians and nursing staff aimed to implement a best practice model for the care of dying patients. An ED interdisciplinary team identified gaps and brainstormed methods to improve palliative measures and comprehensive care for actively dying patients. RESULTS: A best practice initiative called "Life Sustaining Management and Alternatives" was developed and implemented to provide palliative care services and comprehensive care for patients who are actively dying in the emergency department. IMPLICATIONS FOR PRACTICE: The emergency department became better equipped to handle end of life care, providing adequate pain management, optimal comfort measures, and emotional support with respect and dignity for the dying patient and family. The practices implemented resulted in improved patient care, increased patient satisfaction, and reduced overall hospital admissions.

Pivot Nursing: An Alternative to Traditional ED Triage.

PROBLEM: A 7.2% increase in patient volume from 130,700 to 140,800 in 2012 prompted St Joseph's Regional Medical Center Emergency Department to review existing triage processes to decrease turnaround time. "Pivot triage" is a new, efficient intake process that entails use of 4 rather than 8 determinants to identify acuity levels. The purpose of this performance improvement project was to create alternatives to traditional triage to decrease ED length of stay and door-to-physician time. METHODS: After education, the pivot process was implemented using 4 determinants established by a multidisciplinary team. The pivot process was slowly implemented for 6 hours over a 1-week period to work out processing issues. Arrival time, door-to-physician time, and departure time from the emergency department were elements used to calculate the patient's turnaround time. Length of ED stay was collected monthly beginning in the fourth quarter of 2011. Comparisons were made after Pivot implementation in the fourth quarter of 2012. RESULTS: Despite the increasing volume, the mean door-to-physician time decreased from 71 to 40 minutes, a 43.7% reduction. The overall turnaround time decreased from 220 to 181 minutes, representing approximately a 17.7% reduction. The percentage of patients who left without being seen decreased from 2.5% to 1.0%. The pivot process improved patient flow in the emergency department, reducing time spent by the patient in the department. IMPLICATIONS FOR PRACTICE: The pivot process is a viable alternative to traditional triage. Nurses are able to accurately pivot patients with a reduced amount of information.

Cancer colo-rectal: aspectos diagnostico y terapeutico / Colorectal cancer: diagnostic and therapeutic aspects

Se presenta una revisión de 62 casos de cancer colo-rectal, en la Segunda Cátedra de Clínica Quirúrgica, Prof. Dr. Jacques Balansa, durante el período comprendido entre marzo de 1983 e Marzo de 1989. son analizadas las características de presentación en nuestro medio, el tiempo de evolución, como los elementos de diagnósticos utilizados. En 48 pacientes se efectuó el tratamiento quirúrgico con una morbilidad de 37% y mortalidad de 4,16%