PGM1 deficiency: Substrate use during exercise and effect of treatment with galactose.

Mutations in PGM1 (phosphoglucomutase 1) cause Glycogen Storage Disease type XIV, which is also a congenital disorder of protein N-glycosylation. It presents throughout life as myopathy with additional systemic symptoms. We report the effect of oral galactose treatment during five months in a patient with biochemically and genetically confirmed PGM1 deficiency. The 12-minute-walking distance increased by 225 m (65%) and transferrin glycosylation was restored to near-normal levels. The exercise assessments showed a severe exercise intolerance due to a block in skeletal muscle glycogenolytic capacity and that galactose treatment tended to normalize skeletal muscle substrate use from fat to carbohydrates during exercise.

Bacteriemia por Salmonella enteritidis como debut clínico de síndrome de inmunodeficiencia adquirida / Salmonella enteritidis bacteraemia as clinical onset of acquired immune deficiency syndrome

Presentamos un caso de una paciente de 38 años, que acudió a urgencias por cuadro de insuficiencia respiratoria aguda severa y fue ingresada en la Unidad de Cuidados Críticos con la sospecha diagnóstica inicial de neumonía adquirida en la comunidad producida por gérmenes atípicos, que se complicó con un síndrome de distrés respiratorio agudo. Este pudo ser tratado con ventilación mecánica no invasiva. A las 48h de su ingreso se informó del crecimiento de bacilos gramnegativos en los hemocultivos, identificados posteriormente como Salmonella enteritidis. Esta información, unida a la linfopenia que presentaba la paciente, sugería un estado de inmunodepresión, por lo que se realizaron pruebas serológicas que resultaron positivas para VIH. Fueron instaurados tratamientos antimicrobianos basados en los hallazgos microbiológicos y la evolución clínica de la paciente fue favorable(AU)

The case is presented of a 38 year-old patient who was admitted in the Emergency Department due to a severe acute respiratory failure and who was transferred to the Critical Care Unit with a suspected initial diagnosis of community acquired pneumonia caused by an atypical microorganism, which was complicated with an acute respiratory distress syndrome. This was able to be treated with non-invasive mechanical ventilation. At 48hours after admission, the growth of Gram negative bacilli in the blood culture was reported, which was subsequently identified as Salmonella enteritidis. This information, along with the lymphopenia suffered by the patient, suggested an immunodepressed state, thus serological tests were performed which showed positive for HIV. Antibiotic treatment was started based on the microbiological findings, with a favourable clinical outcome for the patient(AU)

[Salmonella enteritidis bacteraemia as clinical onset of acquired immune deficiency syndrome]. / Bacteriemia por Salmonella enteritidis como debut clínico de síndrome de inmunodeficiencia adquirida.

The case is presented of a 38 year-old patient who was admitted in the Emergency Department due to a severe acute respiratory failure and who was transferred to the Critical Care Unit with a suspected initial diagnosis of community acquired pneumonia caused by an atypical microorganism, which was complicated with an acute respiratory distress syndrome. This was able to be treated with non-invasive mechanical ventilation. At 48 hours after admission, the growth of Gram negative bacilli in the blood culture was reported, which was subsequently identified as Salmonella enteritidis. This information, along with the lymphopenia suffered by the patient, suggested an immunodepressed state, thus serological tests were performed which showed positive for HIV. Antibiotic treatment was started based on the microbiological findings, with a favourable clinical outcome for the patient.

Extraskeletal chondroma of the masseter muscle: a case report with review of the literature.

The authors report a case of soft tissue chondroma of the masseter muscle in a 49-year-old man. The tumour was entirely composed of lobules of hyaline cartilage. The literature on head and neck soft tissue chondroma is also reviewed. To the authors' knowledge, this is the first case of muscular soft tissue chondroma in the head and neck region.

[Pharmacological, toxicological, deontologic, and medico-legal aspects of the use of appetite suppressant agents in "weight-loss cures"]. / Aspetti farmacotossicologici, deontologici e medico-legali nell'uso degli anoressizzanti nelle "cure dimagranti".

The pharmacological, deontologic and medico-legal aspects in the use of appetite suppressant drugs have been evaluated. Appetite suppressant drugs used in the treatment of obesity are divided into 2 broad pharmacological categories: those acting via brain catecholamine pathways and those acting via serotonin pathways. Of the former group, amphetamines and phenimetrazines are no longer used because of their stimulant properties and addictive potential. The remaining drugs of this group have some sympathomimetic and stimulant properties. Anorectic drugs which promote serotonin neurotransmission have no such stimulant or sympathomimetic properties. They reduce appetite and food intake and are effective in the treatment of obesity. If they are not used appropriately, appetite suppressants can be of no therapeutic benefit and cause marked health risks. As regards to anorectic drugs, the 13/4/1995 act "Rules and limits in preparing drugs containing anorectic substances", precisely defines rules about selling and use of those substances. Behavior of health care personnel neglecting observance of the rule, could be interpreted as "imprudence", "negligence" and "inexpertness" in designing and managing a fat-reducing diet, that may imply, in case of damage to the patient, a professional fault.

[Subantral graft: clinical application of the biological principles osseoinduction in the treatment of posterior maxillary atrophy]. / Injerto subantral: aplicación clínica de los principios biológicos de inducción osea en el tratamiento del maxilar posterior atrófico.

Severe resorption in the posterior maxilla following the loss of natural teeth is frequently associated with severe pneumatization of the maxillary sinus. This condition reduces the possibility of using implants in the subantral maxilla to surgical and prosthetic limits that cannot be resolved by simple techniques. For these cases, maxillary sinus elevation surgery and subantral grafting are required in order to increase this segment of the maxilla. The availability of new biomaterials has increased the possibilities of performing these techniques by reducing the amount of autogenous bone that must be harvested. Osteogenesis, osteoinduction, osteoconduction, osteotrophism, and osteophilia are the biologic mechanisms involved in the formation of new bone. Presence of these mechanisms permit augmentation of the subantral osseous band and bone to dimensions needed for implant placement. Conductive biomaterials permit bone neoformation to begin at the margins of the defect and advance towards the center. In a clinical study of 42 months, 228 implants (Steri-Oss, Yorba Linda, CA were placed; 180 of them are loaded and functional. The threaded design, HA-coating, hex lock head, and a resorbable membrane promote osseointegration and longevity. A subantral graft was placed in the space created after release and elevation of the sinus mucosa. The histologic evidence and the supportive clinical and radiologic findings clearly demonstrate consolidation and integration of the graft and the implant.

Dissociation of the bovine serum retinol-binding protein-transthyretin complex and purification of the two interacting proteins.

1. Retinol-binding protein is present in bovine serum essentially in the complexed form, bound to transthyretin, as in the case of the other mammalian retinol-binding proteins. 2. Bovine retinol-binding protein-transthyretin complex has the distinctive property of undergoing dissociation in the course of the DEAE-Sephadex chromatography of serum proteins. Therefore, the isolation of uncomplexed retinol-binding protein upon chromatography on this resin cannot represent evidence for lack of binding between it and TTR in bovine plasma, in contrast with previously reported conclusions (Heller J. (1975) J. biol. Chem. 250, (6549-6554). 3. Purified bovine retinol-binding protein and transthyretin can reconstitute a tight complex.