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Biomedical subjects

M Bernal

Publications and source records attributed to M Bernal.

32 records · Page 2Linked to original sources

Lethal faciocardiomelic dysplasia- a new autosomal recessive disorder.

Three male sibs from consanguienous parents were found to have a strikingly similar pattern of multiple congenital anomalies. The main features were polyhydramnios; low birthweight; dwarfism; epicanthal folds; abnormal ears; microretrognathia; microstomia; microglossia; glossoptosis; webbed neck; severe cardiac defects; radial and ulnar hypoplasia; radial deviation of the hands; brachymetacarpalia; thumb hypoplasia; clinodactyly and hypoplasia of the 5th finger; simian creases; fibular and tibial hypoplasia; talipes varus with hypoplastic heels; wide gap between 1st and 2nd toes; and delayed bone age. Neonatal death occurred in the 3 babies by severe cardiac failure. Differential diagnosis permits one to conclude that this is a new type of faciocardiomelic dysplasia with a probable autosomal recessive inheritance.

Abnormalities, Multiple↗

[Sino-nasal endoscopic surgery in fungal sinusitis. Our experience].

Fungal sinusitis is a rare entity which has increased amongst immunocompromised individuals. Records of thirteen patients treated of fungal sinus disease between 1995 and 2001 were reviewed. Histopathological studies demonstrated infection due to Aspergillus in eight patients and due to Mucormycosis in five patients. The surgical debridement via endoscopic sinus surgery was the essential part of the management. The follow-up is 12-72 months (mean 29.08). The main clinical findings and a review of the literature are presented. We conclude that endoscopic sinus surgery is the treatment of choice for fungal sinusitis except in advanced cases of mucormycosis in which a combined approach is still necessary together with intravenous antifungal drugs (amphotericin B).

Adult↗

[Advances in the study of primary auditory cortex. Demostration of its activation by functional magnetic resonance imaging].

PURPOSE: The purpose of this preliminary study has been to demonstrate and investigate the activation patterns of the primary auditory cortex (Heschl's gyrus = HG) using functional magnetic resonance imaging (fMRI). MATERIAL AND METHODS: A 2500 Hz tone stimulus was delivered monoaurally to the right and left ear of 15 normal-hearing right-handed volunteers in 20-second on-off cycles. FMRI data were obtained using a 1.5-Tesla scanner and processed with SPM2. RESULTS: Activated pixels were identified in the transverse temporal gyrus (Heschl's gyrus) of both hemispheres in response to pure tone stimuli using cross-correlation analysis (P < 0.001). Bilateral hemispheric activation was observed in all subjects and there was a trend towards contralateral HG activation to the stimulated ear. CONCLUSION: These results demonstrate directly that fMRI is a new and useful imaging technique to study the complex auditory cortex and it will have potential clinical applications in the next future.

Adult↗

Treatment of chancroid with a single dose of spectinomycin.

Fifty patients with lesions characteristic of chancroid were enrolled in an open-label prospective study to examine the efficacy of a single 2-gm dose of spectinomycin for treatment of chancroid. Only those patients (41 men; aged 18 to 49 years) with positive culture results for Haemophilus ducreyi were included in the analysis. Patients each received a single 2-gm dose of spectinomycin intramuscularly. The recovery process began on the third day of follow-up, as evidenced by the occurrence of epithelialization and a decrease in inflammation. By the seventh day after treatment, only one patient had ulcers; 40 patients experienced eradication of all ulcers (P less than 0.0001). The condition of nodes affected by infection also indicated efficacy of treatment (P less than 0.01); only one patient still had a swollen node by the fourteenth day after treatment. Of the 41 patients, 37 (90%) had negative culture results for H. ducreyi on the third day after treatment. Only 4 patients (10%) required a second dose of spectinomycin on the seventh day to affect a cure. Treatment with spectinomycin resulted in a 98% cure rate 14 days after treatment. The minimum inhibitory concentration (MIC) of spectinomycin was 1 microgram/mL to 3 micrograms/mL in the 15 strains studied. The drug was well tolerated and no adverse reactions were reported. It is concluded that a single 2-gm dose of spectinomycin is a safe and effective alternative drug for treatment of chancroid.

Adolescent↗

Percutaneous endoscopic gastrostomy in head and neck cancer patients.

OBJECTIVE: To present our experience with the indications and complications of percutaneous endoscopic gastrostomy (PEG) in head and neck cancer patients. MATERIALS AND METHODS: In a retrospective study of the patients treated, we reviewed the records of 43 patients diagnosed with head and neck cancer at the Otorhinolaryngology Department, in which a PEG was performed by the Unit of Digestive Endoscopy. RESULTS: All cases had squamous cell carcinoma. Larynx was the most frequent primary site, with 21 cases (49%), followed by hypopharynx, 12 patients (28%). Indications for PEG were: dysphagia (53.5%) and pharyngocutaneous fistula (43.5%). The most frequent complication was a local infection. CONCLUSION: PEG is a good choice for long-term enteral feeding in head and neck cancer patients due to its low complication rate and easy handling.

Aged↗

Treatment of rhinocerebral mucormycosis by combination of endoscopic sinus debridement and amphotericin B.

Rhinocerebral mucormycosis (RCM) is an aggressive fungal infection with a high mortality rate. It frequently develops in patients with uncontrolled diabetes mellitus or immunocompromised patients. RCM typically presents in a rapidly fulminant manner with headache, fever, mucosal necrosis, and ophthalmic symptoms. Although the definitive diagnosis is achieved by histopathological examination, computed tomography (CT) scanning and magnetic resonance (MR) are the best imaging procedures in early diagnosis to assess the extent of the disease.

Amphotericin B↗

[Post traumatic partial seizures].

INTRODUCTION: Post traumatic epilepsy represents 4% of the prevalence of the disorder and is one of the sequelas which is most difficult to prevent. Risk factors have been described to predict the appearance of seizures. CLINICAL CASE: A seven year old boy with a severe head injury was admitted to the Intensive Care Unit. On neuroimaging studies there were multiple foci of contusion, mainly in the left hemisphere, and blood in the III and IV ventricles and frontal horn of the left lateral ventricle. The patient had severe sequelae of head injury with a right spastic hemiplegia and hemiparesia with hypertony of the left side, together with complete blindness of both eyes due to bilateral atrophy of the optic nerve. Serial EEG were done, in which a recording showed alternating periods of hypervoltage grapho elements superimposed on a trace of very low voltage, with continuous activity of low voltage and low frequency. There were no grapho elements with acute morphology. However, the patient had a first partial seizure a year and a half after his head injury. On the EEG an epileptogenic focus was identified in the left hemisphere. Within two years of his head injury he had seven seizures. He had not received prophylactic antiepileptic treatment after the head injury. CONCLUSIONS: We report a case of epilepsy secondary to a head injury, in which the first seizure occurred one and a half years after injury. In view of the risk factors, we discuss whether prophylactic anti epileptic treatment might have been beneficial.

Brain↗

[Landau kleffner syndrome].

INTRODUCTION: The Landau Kleffner syndrome (SLK) is associated with paroxystic alterations of the electroencephalogram which are intensified during sleep, with acquired aphasia and epilepsy, in 75 83% of the cases. The syndrome is associated with other features, such as personality disorders presenting as autistic behaviour, cognitive regression and in some cases, motor dysfunction. The epileptic activity appears to be responsible for the disorder. Treatment with anti epileptic drugs is ineffective in many cases, although there may be periods of spontaneous improvement, or there may be permanent sequelas of language. Design. A systematic revision of one case. CASE REPORT: A five year old boy with no previous clinical history had, at the age of four years, presented with behaviour changes and aphasia, accompanied by paroxystic changes on the EEG and nocturnal polysomnogram. On cranial CT there was a mid line cyst. He had had no seizures. Treatment. Treatment with carbamazepine led to clinical improvement in behaviour, reduction in the paroxysms and appearance of sleep spindles, but little effect on the degree of aphasia. CONCLUSIONS: The case described is a variant of SLK, with no epileptic seizures, some improvement on carbamazepine and a mid line cyst.

Anticonvulsants↗

[Partially differentiated cystic nephroblastoma].

The case of a patient with a cystic partially differentiated nephroblastoma (CPDN) is reported. Careful histological study is essential to distinguish CPDN and other types of multicystic kidneys (specially cystic nephroma or multilocular cyst of the kidney). Because of the rare potential for aggressive behavior of this tumor, nephrectomy alone is the therapy of choice. However, its relationship with Wilm's tumor is an indication for a regular clinical follow up.

Follow-Up Studies↗

[The study of suicides and homicides in Spain. Years 1980-1990].

A descriptive epidemiological was carried out in order to evaluate true scope of the problem of suicides and homicides in Spain. These two items were considered individually. With regard to the cases of suicides and homicides published in Causes of Death Spain, the mortality rates, tendency and potential years of life lost (PYLL) were calculated. We have found that the suicides rates are higher than the homicide and both are higher in men than in women. The provinces having the highest suicide rates are: La Rioja, Ceuta and Melilla, Asturias and Galicia. Those have the lowest Castilla-León. By means of the tendency study, we have noted a greater increase in Barcelona, Madrid and Valencia for the period 1980-90. Regarding homicides, the only provinces showing statistically significative values are Jaen, Las Palmas and Guipuzcoa. The provinces with highest rates of PYLL, in men, were Galicia, Asturias and Navarra; were observed in the women of Cantabria and Madrid in the case of suicides, and Castilla-La Mancha, Asturias, Ceuta and Melilla in case of homicides.

Female↗

[A new method of administration of budesonide powder for the treatment of allergic rhinitis].

The efficacy and safety of a new device for administering powdered budesonide in allergic rhinitis was evaluated. This method eliminates the disadvantages of traditional preparations and improves dosing and administration, even at low nasal flow rates. A randomized, controlled, single-blind study was made in 66 patients with allergic rhinitis, half of whom were assigned to the experimental treatment (powdered budesonide) and half to a standard aerosol. Results showed that both preparations were very effective (p < 0.01) in controlling rhinitis symptoms and not significantly different. However, the overall patient evaluation was significantly better (p < 0.01) in the group treated with powdered budesonide. Both treatments elicited a similar tolerance, although tolerance of powdered budesonide was slightly better. To conclude, treatment with the new powdered budesonide dispenser was as effective and well-tolerated as standard treatment, and better accepted by patients.

Adult↗