PubMed Health⌕ Search

Biomedical subjects

L Torres

Publications and source records attributed to L Torres.

103 records · Page 6Linked to original sources
PubMedDate not supplied

[Becker's myotonia in Peru].

INTRODUCTION: The word myotonia was used for the first time by Strümpell in 1891. Diseases associated with this symptom are called myotonias. They are classified on the basis of their clinical features in: congenita myotonia, paramyotonia congenita, myotonic dystrophy and Schwartz-Jampel syndrome. Becker's myotonia is a generalized congenita nondystrophic myotonia transmitted as an autosomal recessive trait and caused by allelic mutation of the gene encoding the chloride channel CLC-1 of the skeletal muscle fiber surface membrane, localized on chromosome 7q35. At the present time, nondystrophic myotonias are referred as channelopathies. CLINICAL CASE: We describe a case of generalized myotonia in a Peruvian young male, descending of Europeans, without familial history. CONCLUSIONS: We discuss his clinical symptoms, laboratory and electrophysiologic findings, differential diagnosis, and response to the treatment with carbamazepine. We report the first case of Becker's myotonia in Peru.

Adolescent↗
PubMedDate not supplied

[Chin tremor in a peruvian family].

INTRODUCTION: Chin tremor is an uncommon hereditary autosomic dominant disorder, characterized by involuntary, episodic, and repetitive movements involving chin muscles, stimulated by stress. It was first described by Massaro in 1894 like geniospasmo . The most reported cases are from Europeans or Americans families. CLINICAL CASE: A 53 years old man with chin tremor since childhood. CONCLUSIONS: We report the first Peruvian family with chin tremor without European nor American ascendancy with six affected members in four generations.

Chin↗
PubMedDate not supplied

[A case of Isaacs' syndrome associated with dextrocardia].

INTRODUCTION: Isaacs syndrome is a disorder of unknown etiology characterized by muscular rigidity, cramps and myokymias. Described by Isaacs in 1961 and called by him as continuous muscular activity syndrome. There are few reports in Latino american countries. CLINICAL CASE: A 31 year-old man with sustained muscular contractions in lower limbs and diffuse myokymias since he was eighteen-year old. Dextrocardia was disclosed on clinical examination. CONCLUSION: We report the case of a patient with Isaacs syndrome and dextrocardia.

Adult↗
PubMedDate not supplied

[Pseudoathetosis after medullar and pontine hemorrhage].

INTRODUCTION: Athetosis is a slow and purposeless involuntary movement which changes in frequency, severity. The term pseudoathetosis is used when this movement is associated with proprioceptive sensory impairment. CLINICAL CASE: A 63 year old man developed right medulla and pons hemorrhage and presented loss of proprioception in left hemibody and athetosis movements in left hand. CONCLUSION: We report a case of pseudoathetosis associated with loss of proprioceptive sensation.

Athetosis↗
PubMedDate not supplied

[Mirror writing secondary to left parietal-occipital infarction].

INTRODUCTION: Mirror writing is a rare disorder in which the patient's handwriting is done backwards and a mirror is needed to be able to read it. Although mirror writing presents both spontaneously and pathologically, it is mainly due to cerebrovascular lesions in the dominant hemisphere. CASE REPORT: A right-handed 62-year-old female who, following a left parietal-occipital infarction, evidenced by computerized tomography scanning, developed mirror writing with the left hand associated with mnemonic, gnosic and praxic disorders. The symptoms continued for a year after the episode. CONCLUSIONS: Mirror writing and other associated disorders are a consequence of a dysfunction of the left parietal-occipital lobe and the optic thalamus on the same side.

Cerebral Infarction↗
PubMedDate not supplied

Comparison of conductivity measured hematocrit to microhematocrit.

Two electrical conductivity methods of hematocrit (H) measurement, Coulter Counter (CCH) and lonometer (IH), were compared to the microhematocrit (MH) with two different anticoagulants, Li Heparin (Li) and EDTA. The results showed MH-Li is higher than MH-EDTA (mean difference 1.7 vol%). The IH-Li is 1.8 vol% higher than CC H-EDTA. These differences are attributed to osmotic shrinking of red cells by EDTA. The MH-Li and IH-Li correlate very closely (r = .992), and are considered to provide the truest hematocrit values.

Erythrocyte Volume↗
PubMedDate not supplied

[Auto-immune polyglandular syndrome in an adult with chronic active hepatitis].

We present a case report with IgA deficiency, pernicious anemia, chronic active hepatitis, insulino-dependent diabetes mellitus and hypogonadism. A diagnosis of Polyglandular Auto-immune Syndrome was done and we discuss the difficulty in including this particular case in any of the types of the Neufeld's classification of Polyglandular Auto-immune Disease.

Adult↗