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C Sergi

Publications and source records attributed to C Sergi.

At least 37 records · Page 2Linked to original sources
PubMed2000

Occult thyroid pathology in a child with acquired immunodeficiency syndrome. Case report and review of the drug-related pathology in pediatric acquired immunodeficiency syndrome.

A 11-year-old boy with acquired immunodeficiency syndrome (AaS), Varicella-zoster virus (VZV) infection and long-term antiviral treatment suffered from a disorder of contractility of the left ventricle of the heart. Following severe unmanageable vomiting, the patient died and the postmortem examination showed marked involution of the lymphatic system, multiple foci of fibrosis of both ventricles of the heart, and regressive changes of the thyroid gland. Biochemical values of the thyroid gland function were, however, not altered. Neither human immunodeficiency virus-related p24 antigen, nor VZV DNA sequences were found in the thyroid gland. Regressive changes of the thyroid gland can probably occur before its function fails. By analyzing the possible etiologies, the endocrine toxicity of a long-term antiviral treatment should be taken into account.

Acquired Immunodeficiency Syndrome↗
PubMed2000

Immunohistochemical localization of transforming growth factor-alpha and epithelial growth factor receptor in human fetal developing skin, psoriasis and restrictive dermopathy.

Keratinocytes release a number of cytokines interacting with other intra- and subepidermal cells during the initiation and the perpetuation of skin inflammatory reactions. Cultured human keratinocytes overexpressing the transforming growth factor alpha (TGF-alpha) assumed a spindled morphology and displayed increased locomotion. Moreover, the receptor for TGF-alpha, the epithelial growth factor receptor (EGFR), is important for autocrine growth, promotion of cell survival, and regulation of cell migration. The expression of TGF-alpha and EGFR has not been widely studied in human developing skin and their roles in geno-dermatosis are not known. In this study, we investigated the expression of TGF-alpha and EGFR by immunohistochemistry in human developing skin at different gestational ages (14 th week, 20 th week, and 34 th week), in six patients with psoriasis, and, for the first time, in an infant affected with restrictive dermopathy, a very rare lethal genodermatosis, characterized by abnormal skin growth and differentiation with thin, tightly adherent skin. TGF-alpha and EGFR were expressed in the basal layer at the 14 th week and in all epidermal layers at the 20 th and 34 th week of gestation. In psoriasis, TGF-alpha was overexpressed in all layers of epidermis, while EGFR was expressed in the basal and first suprabasal layers. In restrictive dermopathy, we observed no expression of both TGF-alpha and EGFR at the level of the skin. The other organs showed comparable patterns to those of an age-matched infant. In conclusion, TGF-alpha and EGFR interact strictly to promote skin development during the intrauterine life. An interactive autocrine growth cycle between TGF-alpha and EGFR is present in psoriasis. A skin-localized alteration of the expression of TGF-alpha and EGFR may be at the basis of restrictive dermopathy. The delay of growth and differentiation of the skin in restrictive dermopathy may be related to the absent expression of TGF-alpha, which is probably due to a down regulation of EGFR by an abnormal autocrine mechanism.

Aged↗
PubMed2000

The vesicular forebrain (pseudo-aprosencephaly): a missing link in the teratogenetic spectrum of the defective brain anlage and its discrimination from aprosencephaly.

Two cases out of a sample of 41 fetuses and infants with prosencephalic malformation, observed at the Institute of Pathology and Department of Neuropathology of the University of Heidelberg, are described here in detail. These cases presented grossly with microcephaly and missing forebrain, appearing to be cases of aprosencephaly. However, in one of these cases glio-mesenchymal membranes with an ependymal outline, consistent with the microscopic appearance of the dorsal sac membrane in holoprosencephaly and obviously representing remnants of a collapsed primitive prosencephalic vesicle, could be demonstrated. In the other case only hindbrain structures, with the exception of the cerebellum, were present without any demonstrable remnants of a prosencephalon. We propose that the microscopic specification of a primitive prosencephalic vesicle in the first case and similar cases does not justify the diagnosis of atelencephaly/aprosencephaly because the prosencephalon was not really missing (pseudo-aprosencephaly). The prosencephalic anlage had been formed but remained vesicular without further differentiation of a holospheric brain mantle as in common holoprosencephaly ('vesicular forebrain'). We believe that pseudo-aprosencephaly represents the most primitive form of holoprosencephaly, in which the forebrain remains as a complete sac, linking classical holoprosencephaly with 'true' aprosencephaly, i.e., defective prosencephalic anlage due to developmental arrest. The 'vesicular forebrain' allows one to extend the classification of Probst by an additional category which might be termed complete sac category, intercalated between the dorsal sac category and 'true' atelencephaly/aprosencephaly.

Anencephaly↗
PubMed2000

[Acardius or "twin-reversed arterial prefusion" sequence. Report of four cases and review of current therapeutic possibilities].

We describe four cases of acardius (one of hemiacardius, two of holoacardius acephalus, and one of the holacardius amorphus) and present the current range of therapeutic possibilities: control of amniotic fluid by repeated amniocentesis or indomethacin therapy, administration of digoxin to the mother, selective preterm delivery of the acardiac twin by hysterotomy, interruption of the anastomoses by injection of thrombogenic coils, sclerosing agents, umbilical cord ligation, fetoscopic laser coagulation, and thermocoagulation.

Abnormalities, Multiple↗
PubMed2000

Contribution of apoptosis and apoptosis-related proteins to the malformation of the primitive intrahepatic biliary system in Meckel syndrome.

In the developing liver, the complete or partial persistence of the primitive double-layered cylinder of biliary-type cells that surrounds the branches of portal vein and its mesenchyme gives origin to portal tracts with an increased number of bile duct structures. The term "ductal plate malformation of the liver" was coined to label the insufficient remodeling of the primitive intrahepatic biliary system. Meckel syndrome is an autosomal recessive inherited disease characterized by occipital encephalocele, postaxial polydactyly, diffuse cystic renal dysplasia, and malformation of the ductal plate of the liver. We studied 52 fetuses with Meckel syndrome from five German centers (Berlin, Freiburg, Heidelberg, Mainz, and Marburg). Analysis of apoptosis and cell proliferation (Ki-67) was performed by terminal deoxynucleotide transferase-mediated dUTP nick-end labeling (TUNEL) and immunohistochemistry in the liver of 24 normal fetuses of different gestational ages (14-38 weeks of gestation) and in 14 fetuses with Meckel syndrome (17-38 weeks of gestation). The expression of two apoptosis-related proteins, Fas (a transmembrane cell surface protein involved in the apoptosis) and Bcl-2 (an anti-apoptotic protein), was studied by immunohistochemistry in the liver of 11 normal fetuses of different gestational ages (14-40 weeks of gestation) and in 40 fetuses with Meckel syndrome (16-38 weeks of gestation). In control fetuses, apoptosis rate and cell proliferation were high in the remodeling ductal plate and moderate in the ductal plate and in remodeled bile ducts. During gestation, expression of Fas and Bcl-2 decreased and increased, respectively. The malformed ductal plates in the fetal livers with Meckel syndrome showed a marked decrease in the apoptotic rate and Fas expression and an increase in proliferative activity and Bcl-2 expression in comparison with control fetuses. Furthermore, by linear regression analysis, we found that both proliferation activity and apoptosis rate in the ductal plate malformation of fetuses with Meckel syndrome were practically constant along the gestation. These results, which represent the first systematic study of apoptosis in ductal plate malformation of the liver, indicate that 1) animals harboring the gene defect of Meckel syndrome could be a good model for the study of the abnormal development of the primitive intrahepatic biliary system, 2) a decreased cell turnover occurs in the ductal plate malformation of fetuses with Meckel syndrome, and 3) the increase of Bcl-2 expression contributes to the pathogenesis of the lack of remodeling of ductal plate of the liver in Meckel syndrome.

Abnormalities, Multiple↗
PubMed2000

The remodeling of the primitive human biliary system.

From 12 weeks of gestation on, a progressive remodeling of the human primitive biliary structure or ductal plate occurs. A few parts of the primitive biliary structure (peripheral tubular or ductular structures) dilate, migrate toward the center of the portal tract, and transform into mature bile ducts, while most of them gradually disappear. To the best of our knowledge, quantitative studies have been performed only to evaluate the ratio between the number of remodeled bile ducts and portal tracts during human fetal development. We studied the remodeling of the intrahepatic fetal biliary structures as well as the bile duct to portal tract ratio in the developing human liver by immunohistochemistry with monoclonal antibodies anti-bile duct type cytokeratins and using a computer-based image-analysis system. We found that the surface and the perimeter of the portal tracts, the longest axis of the migrating peripheral tubular structures, and the maturation of bile ducts follow a process continuous and active up to term, but they slow between the 20th and the 32nd week of gestation, when intraportal granulopoiesis of the liver is active.

Antibodies, Monoclonal↗
PubMed2000

Norman-Roberts syndrome: prenatal diagnosis and autopsy findings.

We report on the autopsy findings of a male fetus in the 27th week of gestation with Norman-Roberts syndrome. The unaffected parents are first cousins and have a five-year-old child with a low, sloping forehead, broad and prominent nasal bridge, widely set eyes, severe psychomotor retardation, and an agyric cortex. Prenatal diagnosis showed a small head at the 25th week of gestation. At this time, a slowing-down of the growth of the sonographic measurements of the biparietal diameter and head circumference was found. Both the biparietal diameter (57 mm, <5th percentile) and the head circumference (207 mm, <5th percentile) showed a delay of at least two weeks in comparison with other non-cephalic somatometric parameters, that were normal for the gestational age (femur length: 46 mm=median value). After termination of pregnancy, post-mortem examination showed a normotrophic fetus with microcrania and marked microcephaly (brain weight: 50 g), low, sloping forehead, broad and prominent nasal bridge, and widely set eyes. The cerebral hemispheres displayed an almost completely smooth surface with poorly defined sylvian fissures and failure of operculization of the insula. Microscopic examination showed a predominantly four-layered cortex (lissencephaly type I). Karyotype was normal and in situ hybridization did not show any deletion in the Miller-Dieker/isolated lissencephaly critical region on 17p13.3. The syndromes with lissencephaly are reviewed.

Adult↗
PubMed2000

Analysis of the spectrum of malformations in human fetuses of the second and third trimester of pregnancy with human triploidy.

Triploidy is constituted by an extra haploid set of chromosomes for a total of 69 chromosomes in humans. A "parent-of-origin" effect has been demonstrated by analysis of cytogenetic polymorphisms of triploidy pregnancies. Two distinct phenotypes of human triploid fetuses have been recognized according to the parental origin of the extra haploid set. The first one or triploidy of diandric type occurs when the extra haploid set of chromosomes arises from the father, the second one or triploidy of digynic type occurs when the extra haploid set of chromosomes arises from the mother. Diandric fetuses appear relatively well grown with a large placenta, while digynic fetuses show intrauterine growth retardation with a small placenta. Autopsy archive data files (1982-1998) of the Institute of Pathology, University of Heidelberg (Germany) were examined for fetuses with triploidy. We found 12 well-studied triploid fetuses (gestational age: 20 to 32 weeks). Eleven fetuses corresponded to the digynic type of triploidy and one fetus corresponded to the diandric type of triploidy. The spectrum of external malformations included a dysmorphic face (broad root of the nose, exophthalmos, low-set ears, micro-/retrognathia, microgenia, median cleft lip and/or palate, gnathoschisis, macroglossia), encephalocele, spina bifida, syndactyly, club or rocker-bottom feet, pes equino-valgus. More common internal malformations included ventricular septum defect of the heart, abnormal lobation of the lungs, and renal disease (agenesis, cysts).

Abnormalities, Multiple↗
PubMed1999

Fatal course of veno-occlusive disease of the liver (endophlebitis hepatica obliterans) in a preterm infant.

We describe the fatal course of a preterm infant of 34 weeks' gestation with veno-occlusive disease of the liver and refractory ascites. Despite aggressive medical management, the baby died twenty-two hours post partum because of cerebral haemorrhage before potentially life-saving organ transplantation could take place. At autopsy, paucity of lymphoid tissue in lymph nodes, thymus, spleen, and gastrointestinal tract were also seen. To our knowledge, this is the youngest infant with veno-occlusive disease of the liver reported in the literature.

Adult↗
PubMed1999

Refractory congenital ascites as a manifestation of neonatal sialidosis: clinical, biochemical and morphological studies in a newborn Syrian male infant.

A Syrian newborn with coarse facies, hepato-splenomegaly, and refractory ascites is reported. Examination of the ascitic fluid showed vacuolated lymphocytes and thin-layer chromatography of urinary oligosaccharides revealed an abnormal pattern indicative of sialidosis. Despite intensive care, the baby died of respiratory insufficiency 28 days after birth. In cultured skin fibroblasts an increase of the incorporation of [14C]methylamine pointed to excessive lysosomal storage and the demonstration of an isolated deficiency of alpha-N-acetylneuraminidase (sialidase) led to the diagnosis of a sialidosis. At postmortem examination, foam cells were found mostly in bone marrow, liver, and brain. To date very few cases of neonatal sialidosis have been reported, and, to the best of our knowledge, this is the first child with neonatal sialidosis from Syria and the first case of neonatal sialidosis studied by the [14C]methylamine incorporation assay.

Ascites↗
PubMed1999

CATCH 22 syndrome: report of 7 infants with follow-up data and review of the recent advancements in the genetic knowledge of the locus 22q11.

CATCH 22 is a medical acronym for Cardiac defects, Abnormal facies, Thymic hypoplasia, Cleft palate, and Hypocalcemia, and a variable deletion on chromosome 22. The deletion within the chromosome region of 22q11 may occur in patients with three well-described dysmorphologic+ cardiological syndromes: DiGeorge syndrome (DGS), velocardiofacial syndrome (VCFS), and conotruncal anomaly face syndrome (CTAFS). We report in detail seven infants with a deletion of the locus 22q11 showing overlapping clinical features of DGS and CTAFS with complex congenital heart defects (double outlet right ventricle, atresia or stenosis of the pulmonary valve, atrial and ventricular septal defects, patent ductus arteriosus, tetralogy of Fallot, major aortopulmonary collateral arteries, arcus aortae dexter, and persistence of the left superior vena cava). A homograft was implanted between the right ventricle and the main stem of the pulmonary artery in 2 patients, while a balloon valvuloplastic of the pulmonary valve was performed in one patient only. Pulmonary hemorrhage, acute hypoxia, and Aspergillus pneumonia were the complications. Death occurred in three out of seven patients. Recent advancements in the genetic knowledge of the locus 22q11 are described. Since the locus 22q11 is highly heterogeneous, the CATCH 22 acronym should be used and temporarily the old eponyms should be abandoned waiting for the identification of the different genes.

Abnormalities, Multiple↗
PubMed1998

Short-rib-polydactyly syndrome type Verma-Naumoff-Le Marec in a fetus with histological hallmarks of type Saldino-Noonan but lacking internal organ abnormalities.

Up to seven short-rib-polydactyly (SRP) syndromes have been identified so far with marked clinical and pathological overlap. We describe a 32-week-old, nonhydropic male fetus with thoracic "dysplasia," short limbs, and unilateral postaxial polydactyly. All internal organs were normally developed, including the central nervous system. The external genitalia were unambiguously male, in accordance with a 46,XY karyotype. Radiological signs most closely resembled those of SRP, type Le Marec, though histology of the femoral physeal growth zone was consistent with the Saldino-Noonan type. The remarkable lack of visceral anomalies in conjunction with the radiological and histological findings further adds to the phenotypic spectrum of the SRP syndromes. The histological analysis in this case supports a close relationship between types Saldino-Noonan and Verma-Naumoff-Le Marec.

Fetal Diseases↗
PubMed1998

The distribution of HBV, HCV and HGV among livers with fulminant hepatic failure of different aetiology.

BACKGROUND/AIMS: The aim of the study was to assess the impact factor of HCV and HGV in fulminant hepatic failure. METHODS: The 5'-untranslated regions of HCV RNA and HGV RNA and a segment of the core antigen sequence of HBV were amplified after extracting the nucleic acids from snap-frozen tissue aliquots from explanted livers of 26 consecutive patients undergoing orthotopic liver transplantation for fulminant hepatic failure preoperatively diagnosed as either autoimmune (n=2), HAV/HBV (n=8), toxic (n=4) or aetiologically unknown (n=12). RESULTS: HCV RNA was detected in five of 26 (19.2%) livers with fulminant hepatic failure. All five HCV RNA-positive livers belonged to the group of non-toxic, non-autoimmune liver failure (n=20), three of them were found in the group of liver failure with unknown aetiology (n=12) and two in the group of HBV-associated liver failure (n=7), making an HCV incidence of 25%, 25% and 28.6%, in the different groups, respectively. HGV RNA was detected in 10 of 17 (58.8%) explants and in all four groups of fulminant hepatic failure as defined preoperatively. HBV DNA was identified in six livers of 26 patients (23.1%) with fulminant hepatic failure. Neither HCV RNA nor HBV DNA was detected in the livers of patients with toxic or autoimmune fulminant hepatic failure. CONCLUSIONS: These results indicate that HBV and HCV, but not HGV, play an aetiologic role in fulminant hepatic failure. HCV-positive cases were concentrated either in the group of otherwise unexplained fulminant hepatic failure or in the group of HBV fulminant hepatic failure. HGV-positive cases, on the other hand, were found within all four preoperatively defined groups, indicating a role as cofactor rather than as single aetiologic agent.

Adolescent↗
PubMed1998

Meconium aspiration syndrome complicated by massive intravascular thrombosis.

Fetal aspiration of meconium in amniotic fluid during fetal distress by newborn infants can induce the meconium aspiration syndrome (MAS), a form of neonatal respiratory distress. Should this event occur, admission to a Neonatal Intensive Care Unit and vigorous airway management and monitoring are required. We present a term gestation resulting in MAS complicated by a massive intravascular thrombosis. Despite airway management considered appropriate, the infant developed respiratory distress a few hours after birth and died 5 days later. Postmortem examination showed a diffuse alveolar damage of the lungs with alveoli filled with meconium and amniotic epithelial cells as well as disseminated thrombi in the pulmonary vascular tree, portal system, suprahepatic veins, and peripheral arterial vascular tree.

Diagnosis, Differential↗
PubMed1998

Case report: prenatal diagnosis of diastrophic dysplasia by ultrasound at 21 weeks of gestation in a mother with massive obesity.

Routine prenatal ultrasound of a massively obese mother at 21 weeks of gestation revealed short-limb dwarfism in the fetus. The proportionate shortening of tubular bones of about 50 per cent of the normal length, the absence of thoracic dysplasia, and a normal head circumference narrowed the diagnosis down to a severe but non-lethal skeletal dysplasia. Ulnar deviation of the hands and talipes made diastrophic dysplasia the most likely differential diagnosis. At post-mortem clinical examination, the diagnosis of diastrophic dysplasia was clearly apparent due to highly specific 'hitch-hiker thumbs', similarly luxated big toes, facial dysmorphism, and a cleft palate. Retrospective re-evaluation of the prenatal ultrasound videos revealed the misplaced thumbs, which together with the ulnar deviation of the wrist and suspected talipes, led to the conclusion that the definitive diagnosis can be established prenatally, even in a mother with massive obesity.

Abortion, Induced↗
PubMed1998

Wolf-Hirschhorn syndrome: case report and review of the chromosomal aberrations associated with diaphragmatic defects.

A female fetus showing severe growth retardation was delivered at 31 weeks of gestation because of fetal distress. At birth, the infant showed bradycardia and no spontaneous breathing. Although high frequency oscillatory ventilation was started, severe asphyxia persisted and the infant died of respiratory insufficiency. At the autopsy, the propositus showed microcephaly, prominent glabella, broad bridge of the nose, ocular hypertelorism, poorly differentiated and low-set ears, bilateral palatoschisis, and micrognathia. Midline closure defects of the cervical spine bodies, lower jaw, and skull base were seen at postmortem radiography. An extreme hypoplasia of both lungs, a large defect of the left diaphragm with upward displacement of viscera, and multiple cortical cysts in both kidneys were seen at postmortem examination. Karyotyping revealed a chromosomal imbalance with 46, XX, del(4) (pter-->13), characterizing the Wolf-Hirschhorn syndrome. Because diaphragmatic defects can occur in association with specific recognizable patterns of human malformation careful pathologic and genetic workup of all affected infants in crucial for accurate genetic counseling.

Abnormalities, Multiple↗
PubMed1997

A 19-week-old fetus with craniosynostosis, renal agenesis and gastroschisis: case report and differential diagnosis.

A case of a fetus affected with craniosynostosis, unilateral renal agenesis and gastroschisis is reported. The propositus was delivered on the 19th week of gestation for premature rupture of the membranes. Macroscopy showed turricephaly, shallow orbits, exophthalmos, hypertelorism, hypoplastic maxilla with relative mandibular prognathism and gastroschisis. Additional autopsy findings included a premature bilateral closure of the lambdoid suture and a unilateral renal agenesis. The nosological aspects of this fetus and the differential diagnosis of well-described craniosynostosis syndromes with characteristic craniofacial growth patterns (Crouzon syndrome, Jackson-Weiss syndrome, Apert syndrome, Saethre-Chotzen syndrome, Pfeiffer syndrome) are discussed.

Abdominal Muscles↗