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Biomedical subjects

A A de la Fuente

Publications and source records attributed to A A de la Fuente.

13 recordsLinked to original sources
PubMed1991

Familial holoprosencephaly, heart defects, and polydactyly.

We describe a pair of sibs with microcephaly, hypoplastic nose, cleft lip/palate, a complicated Fallot-like cardiac defect, and holoprosencephaly and polydactyly. One sib appeared to have normal chromosomes. The healthy parents were second cousins. This constellation of signs has been described before in at least 14 other patients, and was possibly present in several others. Although there is overlap with a number of similar conditions, especially hydrolethalus syndrome, this probably represents a separate entity. Three pairs of sibs and consanguinity in 3 families point to autosomal recessive pattern of inheritance.

Abnormalities, Multiple↗
PubMed1988

Routine perinatal postmortem radiography in a peripheral pathology laboratory.

Routine postmortem radiography was done in 234 consecutive perinatal autopsies. Using ossification centre appearance and length of femoral shafts as variable it was a very useful and dependable method for estimating gestational age and intrauterine growth. In this way important conclusions can be drawn as to the reason for intrauterine growth deviations. Also many, sometimes diagnostic, abnormalities can be found.

Autopsy↗
PubMed1988

So-called primitive neuroectodermal tumor in macerated fetuses: a confusing artifact.

We studied 11 macerated fetuses with so-called primitive neuroectodermal tumors. Because we doubled the tumorous nature of this disorder, we produced a similar lesion in a comparable 12th fetus. Experimental compression of the skull of the macerated fetus resulted in expulsion of the nervous tissue by way of the vertebral canal and into the retroperitoneal space along the peripheral nerves, with spreading into the adjacent tissues and in blood vessels. The macroscopic and microscopic picture that was induced was essentially identical to that of the 11 spontaneous cases. This lesion, which has been called primitive neuroectodermal tumor in macerated fetuses, must therefore be considered an artifact.

Diagnosis, Differential↗
PubMed1988

Partial duplication 14q/deletion 2q in two sibs due to t(2;14) (q37.1;q31.2) pat.

Two siblings are described with duplication 14q/deletion 2q due to a paternal translocation (2;14) (q37.1;q31.2). The first one, a boy, born at term, lived 14 days. The second one, a female foetus, was born after induced labour when the anomaly was discovered by way of amniocentesis. They both had almost identical phenotypes. From a study of the literature it is inferred that a typical asymmetric head form, low set abnormal ears, micrognathia, long upper lip, rib anomalies, camptodactyly, long fingers and contractures are prominent features of the syndrome.

Abortion, Induced↗
PubMed1985

Septa in the appendix: a previously undescribed condition.

A previously undescribed condition of the appendix, consisting of complete and incomplete septa is reported in 25 cases. The abnormality occurred in persons younger than 30 years. In all cases the lesion was found to be associated with acute appendicitis. Possible factors discussed with respect to aetiology and pathogenesis are: a congenital abnormality similar to intestinal atresia; post-inflammatory fusion of ulcerated, swollen mucosal folds; ischaemia caused by thrombosed vessels; mucosal folding in the process of expulsion of appendiceal contents.

Adolescent↗
PubMed1984

Clostridium perfringens type C causing necrotising enteritis.

A rapidly fatal case of enteritis necroticans in a 24 year old man with diabetes was caused by Clostridium perfringens type C. The role of beta toxin in the disease is discussed. This type has not been previously described as a causative agent in necrotising bowel disease of man outside endemic areas.

Adult↗
PubMedDate not supplied

Locking and reverse molding of the fetal skull.

In 1972 Emery described a condition that he called "locking and reverse moulding of the fetal skull." Crossing and fixation (locking) of the fetal cranial bones prevented normal skull molding, thus giving rise to pressure on the basal structures of the brain. We describe 7 such cases and compared them with the 9 reported by Emery. Multiple hemorrhages were found, frequently at the base of the brain. All pregnancies had gone near or to term. Most mothers were primiparous and labor was often complicated. In several of our cases there was clinical evidence for cephalopelvic disproportion. The babies had normal birth weights and lengths and died during labor or within 48 h after birth. At autopsy, in a number of instances, other traumatic lesions were found. Clinical history and autopsy findings point to an acute condition, and in most cases there were no other findings acceptable as "cause of death."

Autopsy↗
PubMedDate not supplied

Congenital alveolar proteinosis in the Netherlands: a report of five cases with immunohistochemical and genetic studies on surfactant apoproteins.

Congenital alveolar proteinosis is a recently described cause of lung dysfunction and respiratory distress in term neonates. In several cases a deficiency or insufficiency of surfactant apoprotein B (SP-B) has been caused by a frameshift mutation in the gene encoding SP-B. Five full-term children in three unrelated families from The Netherlands are reported. Immunohistochemistry demonstrated large amounts of surfactant proteins A and C (SP-A and SP-C) and precursors in alveolar cells and in intra-alveolar material. Results were positive for antibovine SP-B antibody but negative for antipig SP-B1 antibody, most probably reflecting differences in the antibody specificity. The findings suggest abnormal SP-B function. In two sibs, no pre-SP-C was demonstrated in the alveoli, although it was found in considerable amounts in alveolar cells. One such case has previously been reported. In two families, the parents were heterozygous for the 121 ins 2 mutation in the SP-B gene. Our findings suggest that congenital alveolar proteinosis may result from abnormalities in one or more of the surfactant proteins.

Fatal Outcome↗