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M Aracena

Publications and source records attributed to M Aracena.

8 recordsLinked to original sources
PubMed2001

[Clinical heterogeneity of the chromosome 22q11 microdeletion syndrome].

BACKGROUND: DiGeorge anomaly, velocardiofacial syndrome and conotruncal anomaly face syndrome are part of a group of congenital malformations of the chromosome 22q11 microdeletion syndrome, since they share certain phenotypic features as well as a common genetic abnormality. The malformations include mild facial dysmorphic features, conotruncal heart defects, thymic and parathyroid hypoplasia or aplasia and cleft palate. AIM: To describe the initial clinical presentation of children with clinical and molecular diagnosis of 22q11 microdeletion. PATIENTS AND METHODS: Ten children (seven male) with the phenotypic features of 22q11 microdeletion syndrome are reported. Microdeletion was detected in peripheral lymphocytes by fluorescent in situ hybridisation (FISH) with the TUPLE-1 DNA probe. RESULTS: Two children had abnormal karyotypes, one of them had a visible deletion and another child had an unbalanced translocation inherited from his mother who had a balanced translocation between chromosomes 14 and 22. Two of the 10 patients had an anterior laryngeal web, a malformation infrequently described in this syndrome. Five patients had the diagnosis of DiGeorge anomaly, had a more serious clinical presentation and a higher early mortality. CONCLUSIONS: The high frequency of the 22q11 microdeletion syndrome, estimated at 1:5.000 newborns, and its variable presentations requires a high level of awareness for its early diagnosis and appropriate management of associated complications.

Child↗
PubMed1999

Prenatal sonographic diagnosis of Aarskog syndrome.

In 1970, Aarskog described a rare X-linked developmental disorder characterized by short stature in association with a variety of structural anomalies involving mainly the face, distal extremities, and external genitalia (faciodigitogenital syndrome). The major facial manifestations of this syndrome include hypertelorism, broad forehead, broad nasal bridge, short nose with anteverted nostrils, long philtrum, widow's peak hair anomaly, and ocular and ear anomalies. Limb abnormalities consist of short broad hands, brachydactyly, interdigital webbing, hypoplasia of the middle phalanges, proximal interphalangeal joint laxity with concomitant flexion and restriction of movement of distal interphalangeal joints, and flat broad feet with bulbous toes. Genital anomalies are characteristics and include shawl scrotum, cryptorchidism, and inguinal hernia. Most affected patients have normal intelligence, but some authors have noted mild neurodevelopmental delay in up to 30% of the cases. We describe a case of Aarskog syndrome diagnosed prenatally by sonography at 28 weeks' gestation in a high-risk pregnancy for this disorder.

Abnormalities, Multiple↗
PubMed1990

[The etiopathogenesis of the acute stress ulcer. The role of oxygen free radicals].

We evaluated the role of oxygen free radicals in the induction of acute stress gastric ulcer in rats. After 12 hr of immobility, ulcers of up to 4 mm were observed in the gastric mucosa. Pretreatment with allopurinol, a xanthine oxidase inhibitor, produced a significant reduction in the number and size of lesions (p < 0.0001). No protection was afforded by aluminum hydroxide or ranitidine alone, but enhanced protection was observed when given in association to allopurinol. A secondary role for H ions is suggested by these findings. Our results support the hypothesis of a role of oxygen free radicals in the pathogenesis of stress gastric ulcers. Allopurinol might be used in conditions predisposing to stress in patients.

Acute Disease↗
PubMedDate not supplied

[Combined fetal alcohol and hydantoin syndromes].

Ethanol and hydantoin are both teratogenic drugs of common usage and are associated with specific syndromes. This is a report on two children born to different heavy drinking, mentally abnormal epileptic women, that were also under treatment with 300 mg/day of hydantoin (mother of case 1 on a regular basis and that of case 2 sporadically) during pregnancy. Both infants displayed the syndrome due to both of these drugs. Particularly relevant were failure to thrive, severe mental retardation, microcephaly, blepharophimosis, hypertelorism, and long philtrum. Additional findings in case 1 included nail hypoplasia and in case 2 palatine fissure. Case 1 died unexpectedly at age three months. Case 2 is still alive and he is severely mentally retarded at age four years.

Abnormalities, Drug-Induced↗