Health-related quality of life of X-linked hypophosphatemia in Spain.

BACKGROUND: Health-related quality of life (HRQoL) of patients with X-linked hypophosphatemia (XLH) is lower than that of both the general population and the patients with other chronic diseases, mainly due to diagnostic delay, treatment difficulties, poor psychosocial support, and problems with social integration. Early diagnosis and optimal treatment are paramount to control the disease in patients with XLH, avoid complications, and maintain or improve their HRQoL. We, therefore, analyzed the HRQoL of pediatric and adult patients with XLH treated with conventional therapy in Spain. RESULTS: We used several versions of the EuroQol-5 dimensions (EQ-5D) instrument according to the age of patients with XLH. Then we compared the HRQoL of patients to that of the general Spanish population. Children with XLH (n = 21) had moderate problems in walking about (61.9%), washing or dressing themselves (9.52%), and performing their usual activities (33.33%). They also felt moderate pain or discomfort (61.9%) and were moderately anxious or depressed (23.81%). Adults with XLH (n = 29) had lower HRQoL, with problems in walking (93%, with 3.45% unable to walk independently), some level of pain (86%, with 3.45% experiencing extreme pain), problems with their usual activities (80%) and self-care (> 50%), and reported symptoms of anxiety and/or depression (65%). There were important differences with the general Spanish population. CONCLUSIONS: XLH impacts negatively on physical functioning and HRQoL of patients. In Spanish patients with XLH, the HRQoL was reduced despite conventional treatment, clearly indicating the need to improve the therapeutic approach to this disorder.

X-linked hypophosphatemia (XLH) is a severe inherited disease. It is caused by loss of phosphorus by kidneys. As a result, blood level of phosphorus is low, affectingX-linked hypophosphatemia (XLH) is a severe inherited disease. It is caused by loss of phosphorus by kidneys. As a result, blood level of phosphorus is low, affecting bones and muscles. Patients can have growth retardation, short stature, rickets, limb deformities, pain and other health problems despite traditional treatment. Consequently, their quality of life can be very bad. However, a recently available new treatment (burosumab) can improve this quality of life. We studied the quality of life of children and adults with XLH treated with traditional treatment in Spain. Results showed that children had moderate problems, but adults reported moderate-to-severe problems in walking and performing their usual activities and self-care. Pain and anxiety and/or depression were very frequent. There were important differences with the general Spanish population. Moreover, we also found that XLH is associated to high healthcare cost and even higher socioeconomic cost. Our results highlight the need of improving the treatment of XLH.bones and muscles. Patients can have growth retardation, short stature, rickets, limb deformities, pain and other health problems despite traditional treatment. Consequently, their quality of life can be very bad. However, a recently available new treatment (burosumab) can improve this quality of life. We studied the quality of life of children and adults with XLH treated with traditional treatment in Spain. Results showed that children had moderate problems, but adults reported moderate-to-severe problems in walking and performing their usual activities and self-care. Pain and anxiety and/or depression were very frequent. There were important differences with the general Spanish population. Moreover, we also found that XLH is associated to high healthcare cost and even higher socioeconomic cost. Our results highlight the need of improving the treatment of XLH.

[Vagus nerve stimulation for the treatment of refractory epilepsy. State of the art]. / Estimulación eléctrica vagal en el tratamiento de la epilepsia rebelde. Situación actual.

The vagus nerve stimulation (VNS) therapy is a new neurostimulation technique used for treating pharmacoresistant epilepsy. It can be considered an effective and safe alternative for the treatment of refractory epilepsy patients. In the present review, we describe the surgical implantation technique, its indications and results achieved until now. We will also summarize the possible mechanisms of action of VNS therapy. Finally, we will comment on the difficulties and inconveniences that did not allow this antiepileptic surgical technique to become more widely used.

Estimulación eléctrica vagal en el tratamiento de la epilepsia rebelde. Situaciónactual / Vagus nerve stimulation for the treatment of refractory epilepsy. State of the art

La estimulación intermitente vagal es una técnica de neuroestimulación de reciente incorporación en el tratamiento de pacientes con epilepsia refractaria al tratamiento farmacológico convencional. Hasta el momentopresente y, a pesar de algunos resultados dispares, se ha mostrado como una alternativa eficaz y segura en el tratamiento de estos pacientes. El presente trabajo de revisión pretende acercar la técnica quirúrgica de implantación, comentar las indicaciones y resultados obtenidos hasta la actualidad, y profundizar en los posibles mecanismos de acción de este tipo de estimulación,para finalmente realizar una aproximación crítica a la misma, intentando puntualizar cúales han sido los problemas e inconvenientes que han impedido la utilización generalizada de esta alternativa quirúrgica antiepiléptica (AU)

The vagus nerve stimulation (VNS) therapy is a new neurostimulation technique used for treating pharmacoresistant epilepsy. It can be considered an effective and safe alternative for the treatment of refractory epilepsy patients. In the present review, we describe the surgical implantation technique, its indications and results achieved until now. We will also summarize the possible mechanisms of action of VNS therapy. Finally, we will comment on the difficulties and inconvenients that did not allow this antiepileptic surgical technique to become more widely used (AU)

Determinantes del tiempo de espera en urgencias hospitalarias y su relación con la satisfacción del usuario / Determinants of the waiting period at the Hospital Emergency Services and its relation to user satisfaction

Objetivo: Describir los tiempos del proceso de asistencia en Urgencia y contrastar la influencia de los tiempos reales y percibidos en la satisfacción expresada por el paciente. Analizar las variables que pueden influir en los tiempos de espera. Métodos: Estudio epidemiológico transversal descriptivo. Se seleccionaron, de forma sistemática, los pacientes que acudieron al Servicio de Urgencias del Hospital de Elda. Sobre una muestra total de 325 sujetos, y a través de un cuestionario, se obtuvieron datos relativos a descripción sociodemográfica de la población, relación de los tiempos con diferentes variables (información, dolor, gravedad, etc.) y con la satisfacción del paciente. Se estimaron medias, desviación estándar y sucesivos análisis bivariantes mediante SPSS 10.0. Resultados: Se determinó una relación estadísticamente significativa entre la satisfacción del paciente y el tiempo percibido por el mismo con F: 4,84, p<0,029. No hubo una relación significativa entre la información dada al paciente (t:-1,76, p:0,08) o a la familia (t: -0,35, p: 0,73) con la percepción del tiempo transcurrido en Urgencias. Conclusión: Los factores que se relacionaron con un mayor tiempo en Urgencias fueron: mayor edad, mayor gravedad, permanecer en cama, venir acompañado y el tiempo que transcurrió antes de ser valorado por algún sanitario. Se comprobó una relación significativa entre el tiempo total percibido y la satisfacción del mismo que no se observó con el tiempo total real (AU)

Aims: To describe the time periods of the assistential process in the Emergency Service and establish the influence of real and perceived times on patient-expressed satisfaction. To analyse the variables that might influence the waiting period. Methods: Descriptive cross-sectional epidemiologic study. Patients attending the Emergency Service at the Elda Hospital were systematically selected. On a total sample of 325 subjects, and with the help of a questionnarie, data were recorded regarding the socio-demographic description of the population, the relationship between the time periods and a number of variables (information, pain, severity, etc.), and patient satisfaction. The means and standard deviations were calculated, and successive bivariate analyses performed using the SPSS 10.0 software package. Results: A statistically significant correlation was observed between patient satisfaction and patient-perceived time (F: 4.84; p<0.029). There was no significant correlation between the information given to the patient (t: -1.76, P: 0.08) or to the patient’s family (t: -0.35, P: 0.73) and the perception of time elapsed at the Emergency Service. Conclusion: The factors related to a longer waiting time at the Emergency Service were greater age, greater severity, being bedridden, presence of accompanying persons, and time elapsed prior to assessment by health care personnel. There was a significant correlation between the total time perceived and patient satisfaction, by not between the later and the true elapsed time (AU)

Piomiositis en músculo esternocleidomastoideo / Pyomyositis in sternocleidomastoid muscle

No disponible

[Septicemia caused by Vibrio cholerae non-01 in immunocompromised patient]. / Sepsis por Vibrio cholerae no-01 en paciente inmunodeprimida.

We describe the remarkable case of a patient with septicemia caused by Non 0-1 Vibrio Cholerae associated with skin lesion of the lower and upper extremities. This patient suffered from chronic liver disease and a cervix carcinoma in IIIB stage, she had been admitted to the hospital the day before for dicompensated ascites. She received intravenous cefotaxime and had a satisfactory recovery and was completely free of signs and symptoms. We report its epidemiological discovery in inland freshwater and this is the first announced case in Spain with this confirmed environmental isolation and a rare report case in the literature.

Sepsis por Vibrio cholerae no-01 en paciente inmunodeprimida / Septicemia caused by vibrio cholerae non-01 in immunocompromised patient

Describimos el caso poco frecuente de una paciente con una sepsis por Vibrio Cholerae no 0-1 asociado a lesiones cutáneas en extremidades inferiores y superiores. Esta paciente padecía de una hepatopatía crónica y un carcinoma de cérvix en estadío IIIB y había sido ingresada el día previo por una descompensación ascítica. Su evolución fue buena con resolución completa mediante cefotaxima endovenosa. Destacar sobre todo el hallazgo de su origen epidemiológico, aguas continentales de pozos naturales, siendo esta particularidad la que hace de este caso el primero descrito en España con ese origen demostrado y un caso excepcional en la literatura mundial revisada (AU)

[Severe isolated pulmonary hypertension as main manifestation of Crest syndrome]. / Hipertensión pulmonar aislada severa como manifestación principal del síndrome Crest.

Interstitial pulmonary fibrosis is the leading cause of secondary pulmonary hypertension in systemic sclerosis, and it occurs in either limited or diffuse cutaneous scleroderma subset. Isolated pulmonary hypertension, without pulmonary disease, occurs primarily in patients with limited cutaneous scleroderma (calcinosis, Raynaud's phenomenon, esophageal dysmotility, sclerodactyly, telangiectasia [CREST] variant) although it is an unusual feature in this subset, with a worse prognosis in the short term. We present a previously undiagnosed patient with the CREST syndrome, with severe isolated pulmonary hypertension and secondary respiratory failure as major feature of its connective tissue disease. Clinical, prognostic and therapeutical aspects are commented.

Hipertensión pulmonar aislada severa como manifestación principal del síndrome Crest / Severe isolated pulmonary hypertension as major feature of the crest syndrome

La fibrosis pulmonar intersticial es la causa más frecuente de hipertensión pulmonar secundaria en la esclerosis sistémica, tanto en el subgrupo de escleroderma cutánea difusa como en el de escleroderma cutánea limitada. La hipertensión pulmonar aislada, no asociada a enfermedad pulmonar, aunque ocurre primariamente en pacientes con escleroderma cutánea limitada y su variante el síndrome CREST (calcinosis, fenómeno de Raynaud, dismotilidad esofágica, esclerodactilia y telangiectasias) constituye un hallazgo infrecuente en este subgrupo, implicando un mal pronóstico a corto plazo. Comunicamos el caso de una paciente con síndrome CREST, no diagnosticada previamente, con hipertensión pulmonar aislada severa e insuficiencia respiratoria secundaria como manifestación principal de su conectivopatía. Se comentan aspectos relacionados con la clínica, pronóstico y manejo terapéutico de estos pacientes (AU)

[Lymphocytic colitis: hypopotassemia as a complication and an association with toxic multinodular goiter]. / Colitis linfocítica: hipopotasemia como complicación y associación con bocio multinodular tóxico.

Lymphocytic colitis is a rare clinicopathologic syndrome, characterized by chronic watery diarrhea, diffuse inflammatory changes in the colonic mucous in spite of normal findings on colonoscopy and marked intraepithelial lymphocytic infiltration on biopsy. Although the physiological mechanism of diarrhea is not clear, patients do not usually present hydroelectrolytic alterations and the results of routine laboratory investigations are usually normal. The association between lymphocytic colitis and thyroid disease, possibly autoimmune, in the form of hypo- or hyperthyroidism is relatively common. We report a 61-year-old woman with a history of multinodular toxic goiter, whose previously uninvestigated chronic diarrhea became more acute and led to the diagnosis of lymphocytic colitis. Results of laboratory investigations revealed only a significant hypokalemia with an associated nonfunctioning bilateral adrenal incidentaloma. The patient evolved well when treated with sulfasalazine. Hypokalemia as a complication of lymphocytic colitis and an association between lymphocytic colitis and toxic multinodular goiter does not seem to have been previously described.

Management of intractable spasticity of supraspinal origin by chronic cervical intrathecal infusion of baclofen.

Today it is accepted that chronic infusion of baclofen produces significant relaxation and drastic reduction of spasms, amelioration of cramping pain and improvement of sphincter functions in spasticity of spinal cord origin. Based on these results our group had the opportunity of treating 11 cases with refractory spasticity and dystonic symptoms due to central damage caused by head injury in 8 cases and to cerebral palsy in 3 using cervical intrathecal infusion of baclofen. During the trial period with percutaneous intrathecal infusion of a daily bolus of 12.5-75 micrograms of baclofen through a reservoir, improvement of mentation and speech conditions, marked improvement of dystonic and abnormal movements of the upper limbs and trunk and a notable reduction of hypertonia were observed in all cases, which led to a better performance of motor activities in skilled acts and transfer. With these preliminary results in mind, in all cases the previous cervical subarachnoid catheter was attached to a programmable pump that infused a daily total dose varying from 100 to 190 micrograms of baclofen in a continuous or multistep complex mode. After a mean follow-up of 21 months previous results were long-lasting. Neither overdose side effects nor malfunction of the system were observed.

High-cervical spinal cord electrical stimulation in brain low perfusion syndromes: experimental basis and preliminary clinical report.

Previous studies of our group showed that C1-C2 spinal cord stimulation increases carotid and brain blood flow in normal conditions in the goat and dog and it has a beneficial vasomotor effect in a model of vasospasm in the rat. For further clinical application it seemed rational to investigate the possible vascular changes mediated by this technique in experimental brain infarction. To this aim, 45 New Zealand rabbits were used. Brain infarction was produced by bilateral carotid ligation in 15, unilateral microcoagulation of the middle cerebral artery in 15 and by microcoagulation of the vertebral artery at the craniocervical junction in the other 15. One week later, following daily clinical scoring and cortical and posterior fossa blood flow readings by laser Doppler, a period of 120 min of right C1-C2 spinal cord electric stimulation was performed. A mean of 27% increase in previous blood flow recordings was obtained at the right hemisphere and a mean of 32% in the posterior fossa. This procedure was used in 10 patients presenting with various cerebral low perfusion syndromes. Though not constant, an increase in alertness, retention, speech, emotional lability and performance in skilled acts was achieved. No MR changes were observed, though SPECT readings showed an increase in blood flow in the penumbral perilesional area.

Chronic intrathecal baclofen administration in severe spasticity.

On the basis of previous experimental and clinical studies, 14 patients with severe spasticity due to central or spinal cord damage, resistant to all conservative treatments, were selected after a percutaneous trial period for chronic intrathecal baclofen infusion by programmable pumps. The agent was delivered at C4 in quadriplegic patients or in cases with central spasticity and in the neighbouring areas on the affected segments in paraplegic patients. The daily baclofen dose varied from 25 to 260 micrograms and was infused in a bolus, continuously infused or both combined according to the results during the trial period. After a mean follow-up period of 11 months, constant decrease of rigidity, absence of spasms, improvement of bladder function, cramping pain remission, and moderate improvement in walking capacity and transfer activities were usually observed. Neither complications nor side effects were noted.

Role of vasoactive substances in the segmentary vasomotor response following spinal cord stimulation. An experimental study.

It is presumed today that spinal cord stimulation induces local delivery of vasoactive substances, such as prostacyclins, histamine, substance P, and vasoactive neuropeptides, in the perivascular environment and the vascular wall to mediate the segmental vasodilator response. To investigate this mechanism, 9 dogs were subjected to low thoracic spinal cord stimulation. Venous and arterial blood samples from the paraesthesic area in the lower limbs were obtained before and 120 min after stimulation to measure changes in the plasma concentration of vasoactive intestinal peptide, substance P, and histamine. The results were compared with those obtained from vessels of the upper limbs. Blood flow changes following stimulation were recorded by electromagnetic flowmeters. Local arterial vasoactive intestinal peptide showed a mean increase of 33% after 60 min of stimulation. Changes concerning substance P were inconclusive. Local arterial and venous histamine concentrations increased 26 and 29%, respectively, after 60 min of stimulation.

Spinal cord stimulation in deafferentation pain.

Spinal cord stimulation (SCS) was used in 49 cases to control resistant deafferentation pain resulting from causalgia, phantom limb, plexus and nerve root avulsion, postherpetic neuralgia, reflex sympathetic dystrophy and amputation. In all cases, one or two standard percutaneous leads were introduced into the epidural space and manipulated until the spinal segment at which external stimulation provoked paresthesic sensation in the painful area. Two weeks of external stimulation trial was used to determine the efficiency of the system. Pulse width of 0.1-0.2 ms, a rate of 80-120 cps and amplitude to low paresthesia threshold were programmed as electric parameters. In 36 out of the 49 tested cases showing a positive response to percutaneous SCS, the device was permanently implanted. After a mean follow-up of 5.5 years, 57% of patients had satisfactory pain relief (over 75%). Side effects were limited to dislodgement of the electrode in 1 case and wire extrusion in another, both requiring replacement of the stimulator.

Critical approach to intrastriatal medullary adrenal implants via open surgery in parkinsonism. Case report.

Encouraged by the recent reports on the beneficial effects obtained with open transplantation of autologous adrenal medullary grafts into striatal structures in case with resistent Parkinson's disease, our team used this procedure in a 63-year-old man presenting with severe bradykinesia and rigidity resistent to all pharmacological attempts. In this case through a laparotomy the right adrenal gland was removed and stored in oxygenated Collins and bicarbonated Ringer solution mixtures while a F2 transventricular approach to the head of the caudatum was done. With the surgical microscope the medullary part of the adrenal gland was dissected and four pieces of mm3 of tissue selected, implanting them in a bed previously carved in the caudatum. Endocrinologic and hydroelectrolytic problems appeared during the immediate postoperative period. In the following 5 months no clinical benefit nor electroneurophysiological changes were observed.

Cerebral and carotid haemodynamic changes following cervical spinal cord stimulation. An experimental study.

Since it is accepted that spinal cord stimulation may produce segmentary vasodilation, it is presumable that when applied in the high cervical segments some carotid and cerebral blood flow changes can be expected. Following this assumption, 25 dogs and 25 goats were used. Under routine experimental conditions a C 7 laminectomy was performed in these animals and a bipolar lead introduced and manipulated in the epidural space till the right C 2 segment. Right common and internal carotid arteries of the dogs were isolated and electromagnetics probes placed for continuous monitoring of blood flow changes. Right internal maxillary artery was isolated and its branches ligated for flowmetry of hemispheric blood flow in the goat. 131I antipyrine also studied to control regional cerebral blood flow changes. Arterial pressure and blood gasometry were periodically determined to avoid masking results. Pulse width of 0.1 to 0.2 msec, 80 to 120 cps and amplitude to muscle contraction threshold at low rate were used as electrical parameters. After stimulation common and internal carotid blood flow increased with a mean of 60% and hemispheric blood flow with a mean of 55% according to flowmetry findings. Iodoantipyrine studies showed an average increase of 35%. These changes were not modified by atropine, morphine and naloxone and partially blocked by indomethacin, cimetidine and propanolol.

Use of intrathecal baclofen administered by programmable infusion pumps in resistent spasticity.

On the basis of previous experimental and clinical studies patients with severe spasticity due to spinal cord damage from multiple sclerosis in 8 cases and postraumatic paraplegia in 6 and resistent to all conservative treatments were selected for a trial with morphine and baclofen administered intrathecally through a catheter placed in the spinal subarachnoid space rostral to the affected segments and attached to a subcutaneous reservoir. Whereas morphine single injection did not show any benefit, baclofen bolus injection 30 to 60 micrograms, revealed a marked decrease of spasticity and associated symptoms in 8 cases. After checking the clinical effect during 3 weeks and changes in electroneurophysiological studies and bladder manometry the catheter was attached to a subcutaneous programmable pump able to be refilled percutaneously and administered baclofen continuously or more often following a multistep complex programme in total doses of 90 to 150 micrograms per day. After a mean follow-up of 5 months all cases showed an absence of spasms and pain, a notable improvement for bettering of sphincter functions and a marked muscle relaxation that improves motor capacity, leading to increased ambulation or mobility. Neither complications nor side-effects were observed.

Intraventricular transplantation of omentum for treatment of hydrocephalus. An experimental study in dogs.

In 17 mongrel dogs an experimental non-communicating hydrocephalus was developed by intracisternal injection of kaolin solution. In 10 of them a portion of omentum was isolated and after suturing end-to-end and the vascular pedicle to the temporal artery and vein the graft was introduced transcortically into the lateral ventricle. Metrizamide ventriculography, intraventricular basal and pulse pressure amplitude, compliance and resistance to CSF drainage were performed to evaluate related changes after surgery. Brain and omentum specimens were submitted for pathological studies. In summary, intraventricular omentum transplantation reduced intracranial pressure, compliance and resistance in experimental hydrocephalus whereas ventricular size remained unchanged. Pathological studies showed graft survival in most animals.