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Biomedical subjects

Marie-Dominique Piercecchi-Marti

Publications and source records attributed to Marie-Dominique Piercecchi-Marti.

11 recordsLinked to original sources

[New foetopathological section of the heart. Correlated to the ultrasonographic 4 Chamber view in fetuses].

Our findings on hearts of trisomic 21 fetuses of a new minor cardiac anomaly, belonging to the atrioventricular septal defect (AVSD) spectrum and the improved performances of the fetal ultrasound screening lend us to propose a new section, complementary to the standard cardiopathological examination. It would enable us to test the anatomic level of insertion of the atrioventricular valves of the crux of the heart. It consists of a section of the fetal hearts, fixed in formaldehyde, in a plane correlated to the plane of the fetal ultrasonographic four chamber view. Three hallmarks have been chosen because of their relevance and of their reproductibility in ultra sonography as well as in fetopathology: the apex and the inferior pulmonary veins. This additional section was realized on fetal hearts, regarded as "normal" with the standard pathologic examination, because of a lack of defect. It allowed us to detect a minor cardiac abnormality of the AVSD spectrum, frequent in the trisomic 21 fetuses, which we called: linear insertion of the atrio ventricular valves( LIAVV) without defect. Initially described on a series of Trisomic 21 fetal hearts, the LIAVV without defect has also been found in other fetuses with another pathology often associated with an anomaly of the AVSD spectrum. The possible detection of this abnormality in fetal cardiac ultrasound scanning justifies the use of this new anatomical technique. It also has to be included it in the full standard pathologic examination of the fetal hearts of all the abnormal fetuses.

Down Syndrome↗

Abusive prescription of psychostimulants: a study of two cases.

Because psychostimulants have serious possible side effects and particular potential for abuse, their therapeutic indications are today exclusively limited to disorders such as obesity, narcolepsy, or attention deficit/hyperactivity disorder. We report two cases of abusive prescription of these drugs. The first concerns a woman who was treated for a 3 kg weight gain with fenproporex for 5 years and presented a withdrawal syndrome when this drug was no longer marketed in France. In the second case, a woman who complained of atypical sleep problems was prescribed modafinil, methylphenidate, clobazam, lormetazepam, meprobamate, and aceprometazine, and was found dead in her home a few weeks later in unexplained circumstances. For these two patients, neither the indications, nor the contraindications, nor the prescribing rules for these restricted drugs had been complied with. This case report highlights the extreme danger of these substances and stresses the importance of adhering to the rules of prescription.

Adult↗

Malnutrition, a rare form of child abuse: diagnostic criteria.

Infantile malnutrition is often difficult to diagnose as it is rarely observed in industrialized countries. It may be associated with physical violence or occur in isolation. The essential clinical sign is height and weight retardation, but malnutrition also causes a variety of internal and bone lesions, which lead to neuropsychological sequelae and death. We report a rare case of death by malnutrition in a female child aged 6 1/2 months. The infant presented height and weight growth retardation and internal lesions related to prolonged protein-energy malnutrition (fat and muscle wasting, thymic atrophy, liver steatosis) resulting in a picture of marasmus or kwashiorkor. We detail the positive and negative criteria that established the diagnosis of abuse, whereas the parents had claimed a simple dietary error.

Acetone↗

An unusual case of post-mortem redistribution of ethanol.

We report an unusual case of post-mortem redistribution of ethanol in a woman diver who died by drowning in seawater. The ethanol concentrations were right heart blood 0.60 g/l, left heart blood 2.08 g/l, femoral venous blood 0.63 g/l, gastric contents 5.87 g/l, bile 0.83 g/l. The mechanisms of post-mortem redistribution of ethanol described in the literature, that is, early redistribution from the stomach or the lung parenchyma in the case of inhalation of gastric contents, are inadequate to account for the degree of variation observed between the measurements. We believe that this difference in concentration is explained by the presence of seawater in the pulmonary alveoli at the time of death.

Alcoholic Beverages↗

Comparison of ethanol concentrations in right cardiac blood, left cardiac blood and peripheral blood in a series of 30 cases.

The aim of this study was to compare ethanol concentrations in right cardiac blood, left cardiac blood and peripheral blood. Samples were taken from a series of 30 medicolegal autopsies. Ethanol was measured by headspace GC-FID. In each case, the degree of putrefaction, chest or abdominal injury, and/or regurgitation of gastric contents into the airways were noted. Our results show that there exists in certain cases a marked increase in ethanol concentration in left cardiac blood compared with right cardiac blood and peripheral blood. In these cases, we observed (i) a high concentration of ethanol in the gastric contents and (ii) regurgitation of gastric contents into the airways. The authors discuss the post-mortem redistribution mechanisms which could explain these results and stress the value of sampling right cardiac blood at autopsy.

Central Nervous System Depressants↗

Hyperostosis frontalis interna: forensic issues.

The use of pathological conditions in age and sex determination, important factors in personal identification, is not widespread in anthropology and legal medicine. Hyperostosis frontalis interna (HFI) is a bone condition that mainly affects the inner table of the frontal bone. Although there are numerous publications on the subject, at the present time its etiology remains obscure. Several associations of symptoms, whose incidence varies according to the population studied, have been described. Age and gender appear to be linked with the preponderance of this condition, as does the presence of behavioral disturbances. The aim of our study, based on a series of 1532 autopsies, was to define the incidence and the associations observed with other pathological conditions. Thirteen cases of HFI were identified (0.8% of autopsies), 12 women and one man whose mean age was 59.15 years (range: 42-79 years). All had behavioral disturbances and most were under psychiatric care. This study emphasizes the value of this condition in medico-legal identification.

Adult↗

Pellagra: a rare disease observed in a victim of mental and physical abuse.

Lesions of the brain stem and cerebellum due to nutritional deficiencies are mostly seen in chronic alcohol abuse and more rarely in severe malnutrition. We report the case of a 27-year-old woman, found dead in the family flat. She presented cachexia (167 cm, 25 kg) and multiple hematomas of the limbs. Postmortem examination revealed lesions due to peritonitis. Neuropathological examination showed severe atrophy of the corpus callosum and central neuronal chromatolysis, which are observed in pellagra. Inflammatory colitis or celiac disease was not found. Toxicological analysis was negative, in particular no alcohol absorption. Pellagra, which is due to nicotinamide deficiency, is a disease rarely seen in this country. In this case, nutritional deficiency was the consequence of failure to eat in a context of abuse. The woman was born of an incestuous relationship and presented intellectual retardation due to poor affective relations with her mother.

Adult↗

Fetal visceral maturation: a useful contribution to gestational age estimation in human fetuses.

With regard to the law, estimating fetal age is essential to assess viability (after 20 weeks according to the WHO) and the proposed methods generally use long bone measurements. Here, we evaluated the accuracy of soft tissue maturational stage and compared it with long bone measurements. First, eight kinds of tissues or organs from 448 fetuses with known medical history were studied (macroscopically or histologically). We clearly demonstrated that adrenal glands and skin were very good age indicators, because some characteristics appeared only after 20 weeks. We established a linear regression with a 95% confidence interval of +/- 2.9 weeks. Second, we applied our original formula using femur measurement and we combined soft tissues and bones in a multiparametric regression. The confidence interval was reduced to +/- 2.5 weeks. We conclude that the pathologist must use both histological and anthropometric data to determine fetal age as accurately as possible.

Femur↗

[New formula for the determination od fetal age].

The methods utilised in anthropology for foetal age assessment are generally rather old, based on small samples and have never been tested on other samples than the one they were established on. In this study, we establish a formula on 344 foetuses of known age, and compare it with other age determination methods found in the scientific literature. Except our formula, the tested other methods do not give the limits of the prediction's confidence interval, and therefore do not take into account the total variability. Therefore, we demonstrate the necessity to establish formulas based on large samples and on a validated methodology.

Embryonic and Fetal Development↗

Intracranial meningeal melanocytoma associated with ipsilateral nevus of Ota. Case report.

In this report, the authors review the case of a man with a neurocutaneous syndrome. He presented with an intracerebral melanocytoma associated with a blue nevus of the scalp; its location and its appearance during childhood supported the diagnosis of a nevus of Ota. Meningeal melanocytomas are increasingly being diagnosed, but remain rare. Primary meningeal malignant melanoma is the first differential diagnosis to eliminate. Despite their common embryonic origin. the association of a melanocytoma with a nevus of Ota is rare. A nevus of Ota exhibits the same melanocytic proliferation and affects the trigeminal nerve territory. An ocular effect is not always observed. In contrast to an ocular lesion, a nevus of Ota rarely transforms into a malignant melanoma. It is found only among caucasians. During 4 years of follow-up review after surgery, the patient remained asymptomatic. Other than antiepileptic therapy, he received no complementary treatment and cerebral imaging revealed no evidence of recurrence.

Adult↗

Validation of a radiographic method to establish new fetal growth standards: radio-anatomical correlation.

In forensic medicine, specialists might face difficulties when estimating age at death from fetal remains. Depending on the state of preservation, this age assessment is essentially based on the diaphyseal size of long bones. In a previous work, for the measurement of fetal femoral ossified shafts, we already established a simple and reliable method using a radiographic protocol. Since we previously stated that radiographic measurement values were closer to real anatomical size than ultrasonographic ones, in the present study we decided to check the importance of the difference between radiographic and anatomical measurements. Therefore, we dissected 30 pairs of fetal femurs and compared the difference between the two kinds of measurements (in percentages). This difference seemed to be slight (4.027%), but it was large enough to entail significant differences (p < 0.001). In order to provide a correction factor for radiographic measurements, we established a linear regression formula, which was tested on another sample of 30 pairs of dissected femurs. As a consequence of the good results, we improved the linear regression using a powerful statistical tool: the bootstrap. Finally, we obtained a simple equation that allowed us to figure out the real anatomical size with an R2 of 99% and a mean relative difference of 0.153% (with a standard error of 0.252 mm, and therefore a 95% confidence interval with limits of -0.35 and 0.657 mm). This difference did not entail any significant differences (p = 0.498), and therefore, we concluded that with the proposed correction, radiographic measurements can easily be used by forensic specialists in their daily tasks or to establish new growth standards in order to best fit their population of interest.

Age Determination by Skeleton↗