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Biomedical subjects

D Carles

Publications and source records attributed to D Carles.

At least 55 records · Page 3Linked to original sources
PubMed1989

Fryns syndrome: report on 8 new cases.

The name Fryns syndrome was given to a new variable multiple congenital anomaly syndrome, almost always lethal, described in 1978, and now known to be autosomal recessive. Since that date, 20 patients have been reported in the literature. We describe 8 new cases, 6 of which were diagnosed in a series of 112,276 consecutive births (livebirths and perinatal deaths). The prevalence of this syndrome can be estimated to be around 0.7 per 10,000 births. These new cases confirm that the most frequent anomalies are diaphragmatic defects, lung hypoplasia, cleft lip and palate (often bilateral), cardiac defects (septal defects and aortic arch anomalies), renal cysts (type II, III or IV), urinary tract malformations, and distal limb hypoplasia. Most patients also have hypoplastic external genitalia and anomalies of internal genitalia (bifid or hypoplastic uterus, immature testes). The digestive tract is also often abnormal: duodenal atresia, pyloric hyperplasia, malrotation and common mesentery are present in half of the patients. When the brain was examined, more than half were abnormal (Dandy-Walker anomaly and agenesis of corpus callosum). A few patients demonstrated cloudy cornea. We examined the eyes of three patients histologically: two of them showed retinal dysplasia with rosettes and gliosis of the retina, thickness of posterior capsula of lens and irregularities of the Bowman membrane. Four of our cases were diagnosed prenatally between 24 and 27 weeks. It is to be expected that prenatal diagnosis will be made often and earlier in the future, as the spectrum of anomalies of the Fryns syndrome can easily be evidenced by sonography.

Abnormalities, Multiple↗
PubMed1989

[Craniorachischisis in conjoined "diprosopus" twins. Case report and review of the literature].

The pathological features in a case of craniorachischisis with incomplete twinning (diprosopus) are reported. The female fetus was born to a 27-year-old gravida 6, para 3 healthy woman who underwent a medical abortion at 13 week's gestation because of an anencephaly revealed by ultrasound examination. The head showed two fused faces with two mouths, two noses, two lateral completely formed eyes and two medially fused eyes covered by cutaneous tissue. X-ray examination demonstrated the symmetrically doubled spinal column. The brain and the spinal cord were absent (craniorachischisis). The larynx and the oesophagus, the other viscera and the limbs were normal in number, location and morphology as for a female singleton. This case with others from the literature, illustrates the relationship between conjoined twinning, neural tube defects (more particularly anencephaly) and female zygote and constitutes a real entity.

Abnormalities, Severe Teratoid↗
PubMed1989

[Giant cell tumors developing in Paget's disease. Presentation of 2 cases with an ultrastructural study].

We report two cases of giant cell tumor of bone (osteoclastoma) associated with Paget's disease. One appeared on the left cubitus in a 68-year-old male patient while the second involved the right maxillary sinus in a 79-year-old woman. Histopathological study was completed by ultrastructural and immunocytological studies. They were demonstrated to contain intranuclear virus-like filamentous inclusions in the osteoclasts. However, we cannot obtain positive response with antisera against measles virus and respiratory syncitial virus. These data are confronted to the hypothesis for a viral aetiology of Paget's disease and giant cell tumor of bone, associated or not to Paget's disease.

Aged↗
PubMed1989

[Arterial opacification in the anatomo-pathologic test of the fetus].

Arteriography provides information that is very useful for planning postmortem examinations of fetuses and stillborn neonates. This was demonstrated in a series of 25 fetal arteriographies performed by catheterization of the umbilical artery. A detailed analysis of systemic and pulmonary arteries was possible. The data thus collected was used to plan the postmortem examination. Furthermore, arteriography provided data on organs damaged by maceration and small caliber vessels that could not be readily submitted to pathologic studies. Arteriography of fetuses or stillborn infants is irreplaceable when permission to perform an autopsy is refused by the parents.

Angiography↗
PubMed1988

Renal, pancreatic and hepatic dysplasia sequence.

A renal, pancreatic and hepatic dysplasia sequence (RPHD sequence) was found in a male premature baby who died a few minutes after birth. Autopsy documented multicystic dysplastic kidneys, a dysplastic pancreas with dilated ducts, cysts, fibrosis and inflammatory infiltrates, prominent portal tracts containing dilated bile ducts and hypoplastic lungs. Other organs were normal. This triad constitutes a "dysplastic sequence" and was first reported by Ivemark et al. as "familial dysplasia of kidneys, liver and pancreas". Since then, this combination of abnormalities has been named "polycystic dysplasia" and "renal-hepatic-pancreatic dysplasia", but mostly "Ivemark syndrome", at the risk of being confused with asplenia-cardiac anomaly syndrome, which was reviewed by Ivemark et al. and also bears Ivemark's name.

Humans↗
PubMed1988

[Urinary Corynebacterium group D2 infections. A hospital epidemic and antibiotic sensitivity].

An outbreak of Corynebacterium group D2 urinary tract infections was recently observed at Nice CHR. These infections were characterized by alkaline urine. The five first cases were reported in the same department and the ten other cases were latter observed in different departments. Age average was 79 and all patients had either an intra-vesical catheter of a urinary collector. Among samples of material tested, only one gave a positive culture. The 15 isolates showed a similar identification and antibiotic phenotype. These strains presented a multiple antibiotic resistance: resistance to beta-lactams, aminoglycosides (except streptomycin), erythromycin, chloramphenicol, tetracyclines. All strains were susceptible to rifampin, pristinamycin, fusidic acid and vancomycin.

Aged↗
PubMed1987

Cyclopia-otocephaly association: a new case of the most severe variant of agnathia-holoprosencephaly complex.

This report describes a new case of true cyclopia with otocephaly and additional brain malformations (alobar holoprosencephaly). This is a very rare occurrence involving lack of cleavage of the prosencephalon and disturbed development of the first branchial arch. An inductive defect of the prechordal mesoderm is considered as the cause for this malformation, which is a part of agnathia-holoprosencephaly complex.

Abnormalities, Multiple↗
PubMed1987

[Prenatal echographic diagnosis of iniencephaly. Apropos of a case].

Iniencephaly is a rare lethal malformation. It is associated with a defect in the occiput, alterations in the spinal column that are variable and retroflexion of the fetus. Antenatal diagnosis by ultrasound is possible because of the typical appearance: the fetal head is hyperextended, with distortion and shortening of the cervical spine. The occiput can be fused with lower vertebrae. Many associated malformations may be found: polyhydramnios, neurologic, facial and visceral abnormalities.

Abnormalities, Severe Teratoid↗
PubMed1986

Prenatal diagnosis of type III congenital cystic adenomatoid malformation of the lung.

The authors report a case of type III Congenital Cystic Adenomatoid Malformation (CCAM) of the lung in a stillborn with ultrasound and pathological findings. CCAM is an unusual morphological entity and the solid pattern (type III) is the rarest. Antenatal demonstration may allow to salvage these infants by surgical removal in immediate postnatal period.

Adult↗
PubMed1985

[Morphological study of the removed fetus after therapeutic abortion for echographic anomalies (apropos of 42 cases)].

In 42 cases, fetal abnormalities were diagnosed by obstetric ultrasonography and the pregnancy was terminated. The malformations included: anencephaly (22), severe hydrocephaly (4, one with a spina bifida), encephalocele and meningocele (2) amniotic band syndrome (4; a correct prenatal diagnosis was performed during the second trimester in two cases), major anterior abdominal wall defects (2), Pena-Shokeir syndrome type I? (I), severe renal abnormalities (2), conjoined twins, dicephalus type (2), cystic hygroma and hydrops fetalis (2), osteogenesis imperfecta, type II (I). Thus, there were 23 fetuses with a polygenetically determined status; five fetuses could be affected by an autosomal recessive disorder.

Abnormalities, Multiple↗
PubMed1985

[Ultrastructural analysis of secretory cells and hyaline hemocytes with a "neoplastic" character in Mytilus galloprovincialis (Lamarck) collected from a natural polluted site (Bay of Fos)].

The comparative ultrastructural analysis of the digestive tubules of mussels sampled in a strongly hydrocarbons polluted neritic area and in another one reputed unpolluted, revealed important adulterations in the first one, namely that cells of digestive tubules and hyalinocytes within digestive gland display "neoplastic" disorders.

Animals↗