[Hypertrophic cardiomyopathy and neurofibromatosis type 1].
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Adolescent↗
Biomedical subjects
A Sanchís Calvo
Publications and source records attributed to A Sanchís Calvo.
[Role of signs of fetal hypokinesia in the diagnosis of spinal muscular atrophy of neonatal onset].
INTRODUCTION: Spinal muscular atrophy (SMA) is characterized by early degeneration of anterior horn cells. The most frequent and severe type of neonatal onset is Werdnig-Hoffmann disease. The neurologic and genetic characteristics of SMA are well-known. The aim of this study was to analyze the dysmorphologic features of this disease. PATIENTS AND METHODS: We present an analysis of 10 cases of SMA identified among 27,864 infants with congenital defects registered by the Spanish Collaborative Study of Congenital Malformations (ECEMC) between April 1976 and December 1998. We also report a clinical case of neonatal SMA presenting the classical signs of fetal hypokinesia deformation sequence. RESULTS: The minimum estimation of the prevalence of SMA with congenital defects in our population is 0.32 per 100,000 live births. We found a male-to-female ratio of 3.5. The most frequently associated congenital defects in our population of neonatal SMA were located in the extremities (mainly arthrogryposis), face and thorax and could be explained by intrinsic fetal hypomobility secondary to the neuromuscular disorder. The characteristics of fetal hypokinesia deformation sequence are discussed in the case report presented herein: dystocic delivery, short umbilical cord, polyhydramnios, intrauterine growth retardation, craniofacial malformations, skeletal abnormalities with multiple articular contractures, pulmonary hypoplasia, etc. CONCLUSIONS: It is important to recognize the congenital defects associated with neuromuscular disorders, because dysmorphologic features are sometimes more marked than neurologic features in the neonatal period and because of the wide spectrum of congenital defects in neonatal SMA that result in a fetal hypokinesia deformation sequence.
Female↗
[Comparison of the epidemiological characteristics of neural tube defects classified according to failure of the different points of closure].
OBJECTIVES: To study the epidemiological characteristics of neural tube defects (NTD) classified according to the theory of multi-site closure of the neural tube and to correlate several factors with the failure of different closure sites. MATERIAL AND METHODS: We used the data from the Spanish Collaborative Study of Congenital Malformations (ECEMC), collected from April 1976 to April 1995. During this time, 757 NTD of non-syndromic origin were diagnosed. These were classified into groups according to the failure of the point of closure and a range of variables were analyzed by comparing the different groups of NTD with each other. RESULTS AND CONCLUSIONS: Among non-syndromic NTD, 2.11 % recurred in siblings. However, the real recurrence rate in our population is 2.63 %, which corresponds with the recurrence rate observed before 1986. From this year the recurrence rate was modified by the legal possibility of abortion after prenatal diagnosis. The infants with NTD classified according to multi-site closure failure of neural tube differed in weight, mortality, maternal use of valproic acid, and maternal diabetes mellitus. While valproic acid is more specific to failure of closure sites 1 and 1 5, maternal diabetes mellitus preferentially affects failure of closure site 4. Closure site 4 is clearly genetically determined: it is frequently observed in genetic syndromes, predominantly affects females and is associated with a higher rate of maternal abortions and higher recurrence. Moreover, it is frequently observed in infants with multiple congenital anomalies and is associated with a higher rate of malformations among relatives.
Humans↗
[Twin reversed arterial perfusion sequence].
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Adult↗
[Ureaplasma urealyticum and Mycoplasma hominis: incidence and clinical significance of their isolation in the perinatal period].
In order to known the clinical significance of the colonization of the maternal genitalia and infant with genital mycoplasmas, we studied prospectively 219 pairs of mothers and newborns admitted for delivery to a general public hospital. U. urealyticum and M. hominis were isolated from 72 (32.9%) and 10 (4.6%) of the mothers, respectively. During the first 4 days of life. U. urealyticum and M. hominis were isolated from 23 (10.5%) and 1 (0.5%), of the newborn infants respectively. Maternal colonization by genital mycoplasmas was not associated with a longer duration of membrane rupture, nor with a shorter gestational age, nor with smaller neonatal weight and length. Neonatal colonization by U. urealyticum was not associated with shorter gestational age, nor with smaller birth weight and length, nor with the appearance of any disease during the first 3 months of life.
Birth Weight↗
[Kawasaki disease. Report of two cases].
We present two reports of Kawasaki's disease. The first a five months old male, which was diagnosed through autopsy developed cardiovascular complications (myocarditis, coronary aneurysms, myocardial infarction) which led to death. The second one a two years and ten months old female, which was diagnosed at the fifth day of illness, was treated with aspirin at rate of 100 mg/kg/day and healed without consequences. It is interesting to emphasize the different development as a function of age, sex and precocity of diagnosis.
Aspirin↗