Síndrome de Gorlin-Goltz; a propósito de un caso / Gorlin-Goltz syndrome; a clinical case

El síndrome de Gorlin-Goltz (SGG) es también conocido como síndrome névico basocelular o síndrome del carcinoma nevoide basocelular. Fue mencionado por primera vez en 1894 por los doctores Jarish y White y fue descrito en 1960 por Robert J. Gorlin. Es un raro trastorno autosómico dominante, ocasionado por una mutación sufrida en el gen Patched 1 (PTCH1) ubicado en el cromosoma 9q223 (este gen desempeña un papel en la supresión tumoral, la estructuración embrionaria y el ciclo celular), que se caracteriza por defectos en el desarrollo y por elevar de manera significativa la predisposición a padecer algún tipo de cáncer. Su prevalencia es variable según el país, pero está aceptada una media de 1:60.000 habitantes/año, siendo la relación hombre/mujer de 1: 0,621. El diagnóstico del SGG puede resultar complejo debido a la variabilidad en la expresividad del síndrome y en la edad de presentación. La manifestación más común en la cavidad oral son los queratoquistes, lesiones que aparecen hasta en el 90% de los pacientes

Gorlin-Goltz Syndrome (GGS) is also known as basal cell nevus syndrome or nevoid basal cell carcinoma syndrome. It was first mentioned in 1894 by Doctors Jarish and White and described in 1960 by Robert J. Gorlin. It is a rare autosomal dominant condition, caused by a mutation suffered in the PTCH1 gene (Patched 1) located on chromosome 9q223 (this gene plays a role in tumour suppression, embryonic structuring and the cell cycle). It is characterised by defects in development and a significantly increased predisposition to suffering from some type of cancer. Its prevalence varies according to the country, but an average of 1 per 60,000 population/year is accepted, with the male/female ratio being 1:0.621. Diagnosing GGS can be complex due to the variability in the expressiveness of the syndrome and the age of presentation. The most common manifestation is the appearance of keratocysts in the oral cavity, which appear in up to 90% of patients

Resting state functional magnetic resonance imaging in attention deficit hyperactivity disorder. / Resonancia magnética funcional de reposo en el trastorno por déficit de atención e hiperactividad.

OBJECTIVE: To explore whether children and adolescents with attention deficit/hyperactivity disorder (ADHD) have altered the functional connectivity between the executive control network and the default mode network. METHODS: Exploratory study of a diagnostic test, prospective, case and control design. A total of 56 participants were recruited consecutively (29 inattentive or combined ADHD subtype and 27 controls) between 7 and 16 years old, male, right dominance. DSM-5 was applied as reference test and a battery of neuropsychological tests to confirm the diagnosis and assess comorbidities. Resting state functional magnetic resonance imaging was performed as an index test. The application and evaluation of the tests was blind. The brain regions were chosen a priori and the region of interest technique was used. The functional connectivity of the anterior cingulate cortex (ACC) was evaluated with: the precuneus (P), the posterior cingulate cortex (PCC) and the dorsomedial prefrontal cortex (DMPC). RESULTS: The functional connectivity in each of the associations evaluated in the patients with ADHD compared with the controls were: P_D=0.41 vs 0.44; CCP_D=0.43 vs 0.53; CPDM_D=0.75 vs. 0.79; P_I=0.40 vs 0.41; CCP_I=0.48 vs 0.53; CPDM_I=0.76 vs. 0.72). D: right side I: left side. Value of p> 0.05. CONCLUSION: Cerebral functional connectivity at rest is lower in ADHD patients when compared with healthy controls, however, the difference was not statistically significant.

[Appropriateness of emergency hospital admissions]. / Adecuación de los ingresos hospitalarios urgentes.

INTRODUCTION: The aim of this work is to know the proportion of inadequate urgent admissions in a general hospital. MATERIAL AND METHODS: A retrospective and descriptive study of patients admitted during 1,999 was performed. The Appropriatness Evaluation Protocol (AEP) was used in order to evaluate the appropriatness of the admissions. RESULTS: Eighteen admissions (4.5%) were inadecuated. There was a higher proportion of inappropriate admission (IA) when the physician responsible of the admission was a medical specialist (internal medicine, hematology or nephrology): odds ratio 5.3 in opposite to emergency physicians (p < 0.03). CONCLUSIONS: There was a low proportion of inadequate admissions (4.5%) and the risk of inappropriatness of the admission was major when it was ordered by a medical specialist.

Adecuación de los ingresos hospitalarios urgentes / Appropriateness of the emergent hospitalary admissions

Objetivo: Estudio realizado para conocer el porcentaje de ingresos inapropiados urgentes de un hospital general. Material y métodos: Estudio descriptivo retrospectivo de los pacientes ingresados durante 1.999 mediante aplicación del Appropriateness Evaluation Protocol (AEP) para valorar la adecuación del ingreso. Resultados: Dieciocho pacientes (4,5 per cent) ingresaron de forma inapropiada. Hubo mayor riesgo de ingreso inadecuado por los especialistas médicos (internista de guardia, hematólogo o nefrólogo): odds ratio frente a ingreso por médico de Urgencias de 5,3 (p<0,03). Conclusiones: Destaca una bajo porcentaje de ingresos inadecuados (4,5 per cent). Existe mayor riesgo cuando el médico responsable del ingreso pertenece a una especialidad médica. (AU)

A case of severe hyperkalaemia and compartment syndrome due to rhabdomyolysis after drugs abuse.

Severe hyperkalaemia is one of the complications of the non-traumatic rhabdomyolysis, which have been related to drug abuse, alcohol, etc. We report on a case of bilateral tibial compartment syndrome, severe hyperkalaemia and rhabdomyolysis after drug abuse. A 35-year-old male intravenous drug user was admitted to the emergency department after being found unconscious in his cell of the prison. Physical examination at emergency department revealed no abnormalities except constricted pupils. Two hours after admission a wide QRS was observed in the electrocardiography and he developed asystole. Cardiopulmonary resuscitation was performed and transcutaneous pacing was applied at the beginning of cardiac arrest (150 mAmp and stimulation frequency 80 beats/min). At the moment of cardiac arrest, laboratory test showed potassium 9.2 mmol/l. Return of spontaneous circulation occurred in 21 min, and he was admitted to the Intensive Care Unit. Thirty-six hours after admission a compartment syndrome of both lower legs was suspected because of oedema with peripheral pulses. Rhabdomyolysis has been reported after drug abuse. There is severe hyperkalaemia which should be identified and treated. A more rare complication of rhabdomyolysis is the compartment syndrome, a surgical emergency, which requires immediate fasciotomy to prevent serious complications.

Agranulocitosis y ticlopidina / Agranulocytosis and ticlopidine

No disponible

Íleo mecánico y gangrena gaseosa secundarios a fractura pélvica / Mechanical ileus and gas gangrene due to pelvic fracture

El diagnóstico de íleo mecánico secundario a fractura pélvica es difícil debido a su baja frecuencia frente al íleo para lítico. El peor pronóstico que conlleva el tardío o erróneo diagnóstico requiere recordar esta complicación, a menudo olvidada. Presentamos un caso de atrapamiento y perforación de intestino delgado por fractura pélvica que se complicó con una gangrena gaseosa. Así mismo, revisamos los casos publicados, entre los que se han encontrado 12 pacientes, con edades entre 13 y 80 años. La fractura acetabular y el intestino delgado son los más frecuentemente implicados en el íleo mecánico. Los diagnósticos se efectuaron entre el segundo y el vigésimo primer día tras la fractura. El tratamiento quirúrgico empleado con más asiduidad ha sido la resección segmentaria del intestino afecto, anastomosis primaria, junto con desbridamiento de los bordes fracturarios y reperitonización. La mortalidad ha sido de un 41 por ciento. El diagnóstico de íleo mecánico secundario a fractura pélvica es difícil y casi siempre tardío, lo que agrava el pronóstico del paciente. La TAC, ante un cuadro clínico de fractura pélvica con obstrucción intestinal, hipotensión no hipovolémica, taquicardia y afectación del estado general, será habitualmente diagnóstica(AU)

Attendance of patients with minor head injury in an emergency department observation ward.

A retrospective study was undertaken to compare the management of head injured patients in a short stay ward (SSW) with their management in other departments in the same hospital, where there is no neurosurgery department. Head injured patients were admitted to the general surgery department until November 1998, when the SSW was inaugurated. The following data were collected for all head injured patients admitted between 1997 and 1999: age, gender, diagnosis, outcome categories and length of stay. A total of 225, 238 and 340 head injured patients were admitted in 1997, 1998 and 1999 respectively. Patients in the neurology department were older (60 +/- 23 years) than in the SSW (41 +/- 23 years) and general surgery department (42 +/- 20 years). Patient diagnosis was similar in the SSW, paediatrics and general surgery departments but patients admitted to the neurology department had more skull fractures and intracranial injuries. The length of stay was longer in general surgery (3.5 +/- 3.9 days) and neurology departments (9.6 +/- 19.1 days) than in the SSW (1.4 +/- 0.8 days) and paediatrics department (1.5 +/- 1.5 days). Thirteen patients in the SSW required admission to another department in the hospital and only one was transferred to the neurosurgery department in another hospital. The results support the view that SSWs are suitable in the management of head injured patients.

[Utilization of a hospital emergency service. Influence of the need to transfer to another location and previous medical attention]. / Utilización de un servicio de urgencias hospitalario. Influencia del traslado de localidad y de la asistencia médica previa.

171 cases consecutively seen in a hospital emergency service were prospectively evaluated. Several data were recorded to assess the type of care given and the need for attention in an institution with the technical resources of a hospital. These data were evaluated considering whether the user had moved from another town to receive attention and whether he had been referred by a physician or not. There were definite differences in the behavior of the user from the town where the hospital is located and the remaining users. These differences were not attributable to a different performance or evaluation from the primary care services of the several towns involved. It was concluded that, at the present time, the use of the emergency service of our hospital is significantly influenced by the decision of the user to consult the service. Factors other than the severity of the disease influence this decision.