ABSTRACT
A new case of terminal deletion 10q26-qter is described. The phenotypic features are compatible with those of the previously reported cases. Deafness is reported for the first time.
Subject(s)
Abnormalities, Multiple/genetics , Aneuploidy , Chromosomes, Human, Pair 10 , Adult , Chromosome Banding , Chromosome Deletion , Humans , Infant , Infant, Newborn , MaleABSTRACT
Ehlers-Danlos Syndrome is a hereditary dysplasia of connective tissue with an abnormality in collagen synthesis. The syndrome consists of increased elasticity and fragility of the skin, increased laxity of the ligaments of the joints and fragility of the blood vessels. It is rarely associated with pregnancy but when it is several problems arise which are demonstrated in our case. Our patient had a type III syndrome (hypermobility of the joints) or a type IV syndrome (echymoses, Sack-Barabas Syndrome). In the literature the following are reported: premature rupture of the membranes with premature delivery, tears, perineal haematomas and type IV ruptures of the great vessels of the uterus. The best way of delivering and anaesthetising the patient are discussed. The prognosis depends above all on the type of the disease (25% of mothers die in type IV disease). Strict rest and Pfannestiel lower segment Caesarean section operation under general anaesthetic allowed us to achieve a favorable outcome for the mother and for her child.
Subject(s)
Ehlers-Danlos Syndrome/complications , Pregnancy Complications , Adult , Cesarean Section , Ehlers-Danlos Syndrome/physiopathology , Female , Humans , PregnancyABSTRACT
The authors report a case of Wilson-Mikity syndrome in a preterm newborn, that was followed on the 28th day of life by a necrotizing enterocolitis with colic stenosis. The finding of cytomegalic cells on the pathologic examination of the intestinal lesions, the presence of the virus on direct examination of a tissue sample, the elevated IgG levels and the presence of IgM demonstrated a cytomegalovirus infection. The authors discuss the role of this virus in the pathogenesis of the affection, either as directly responsible for the enterocolitis or as a secondary colonization of previous lesions.
Subject(s)
Cytomegalovirus Infections/complications , Enterocolitis, Pseudomembranous/etiology , Infant, Premature, Diseases/etiology , Colectomy , Colon/pathology , Cytomegalovirus/isolation & purification , Enterocolitis, Pseudomembranous/therapy , Humans , Infant, Low Birth Weight , Infant, Newborn , Infant, Premature, Diseases/therapy , Male , Serologic TestsABSTRACT
To determine whether significant historical differences distinguish the near-miss for Sudden Infant Death from the infants who died of SIDS, we analysed the histories and clinical data from two groups of infants seen in our University Hospital and from collaborative research group. The data were obtained with the use of a standardised questionnaire and consultation of all available medical data. Sixty-five infants were identified as near-miss for SIDS after they had suffered a severe cardiorespiratory incident during sleep for which no cause could be found despite a complete medical examination. After an autopsy had failed to reveal a cause for the unexpected death 95 cases of SIDS were retained in the study. A series of 353 variables were collected from the parents, the gynaecologists, neonatologists and attending physicians. After statistical analysis, only 15 of the 353 items studied significantly differentiated between the two groups. A step-wise discriminant analysis performed on these items led to the identification of six independent variables: the time of the incident; the circumstances leading to the observation of the child; the child's sleep position; previous minor intestinal problems; the size of the family and the mother's coffee consumption. Most variables indicate that the near-miss infants were discovered and rescued earlier than the infants who died. No other historical information appeared significantly to differentiate between the two groups of infants. These data need confirmation from a prospective epidemiological survey.
Subject(s)
Sudden Infant Death/epidemiology , Family Characteristics , Female , Humans , Infant , Male , Maternal Age , Posture , Risk , Seasons , Sleep , Sudden Infant Death/etiologyABSTRACT
In 5 full-term neonates presenting with signs of acute neonatal brain damage, intracranial hemorrhage was proven by CT-scan performed within a few days after birth. Status epilepticus occurred soon after birth as shown on EEG. Prognosis was most often very poor. These data are compared with the series reported in the literature.
Subject(s)
Cerebral Hemorrhage/diagnostic imaging , Infant, Newborn, Diseases/diagnostic imaging , Tomography, X-Ray Computed , Cerebral Hemorrhage/complications , Child, Preschool , Epilepsy/etiology , Follow-Up Studies , Humans , Infant , Infant, Newborn , PrognosisABSTRACT
Catecholamines (DA, NE, E), methoxyamines (MT, NMN, MN), DOPA and DOPAC were studied in urine of term small for gestational age infants (SGA) and preterm with appropriate birthweights for gestational age (PT) during the first ten days of life. Results were compared to values obtained for full term infants (FT). As a whole no deficit in urine catecholamines was observed in either group of SGA and PT neonates suggesting that capacities to synthesize catecholamines are already developed at birth. Furthermore, in SGA infants, adrenergic function seems to be enhanced during the first four days of life; however, SGA infants with low blood glucose levels excreted amounts of epinephrine similar to those of FT neonates, but much lower than those obtained in normoglycemic SGA neonates. These data suggest that enhanced release of catecholamines is required in SGA infants to maintain the glycemic homeostasis. In premature infants, the adrenergic pattern was highly altered only in younger preterm neonates (31 weeks of gestational age) who excreted more catecholamines than older preterm babies (33 to 36 weeks) or full term neonates; this catecholamine increase in urine of young preterm infants might be related to immaturity of storage vesicles and/or to thermoregulatory or respiratory events. On the other hand, a striking deficit in excretion of DOPAC was observed in small for gestational age infants and in young preterm neonates during the first ten days of life. DOPAC excretion was even lower in SGA than in young preterm neonates. These findings suggest that the maturation of dopaminergic neurons occurs late in gestational age and is greatly dependent on nutritional factors.
Subject(s)
Catecholamines/urine , Infant, Premature , Infant, Small for Gestational Age , 3,4-Dihydroxyphenylacetic Acid/urine , Creatinine/urine , Dihydroxyphenylalanine/urine , Dopamine/urine , Epinephrine/urine , Humans , Infant, Newborn , Metanephrine/urine , Norepinephrine/urine , Normetanephrine/urineSubject(s)
Bronchitis/etiology , Adolescent , Adult , Bronchitis/immunology , Child , Child, Preschool , Chronic Disease , Female , Gastroesophageal Reflux/complications , Humans , Immunologic Deficiency Syndromes/complications , Infant , Infant, Newborn , Male , Respiratory Insufficiency/complicationsABSTRACT
Catecholamines (dopamine [DA], norepinephrine [NE], epinephrine [E]), methoxyamines (3-methoxytyramine [MT], normetanephrine [NMN], metanephrine [MN]), DOPA, and acidic metabolites (3,4-dihydroxyphenylacetic acid [DOPAC], vanilmandelic acid [VMA]) were determined in human urines from one day of age to adulthood, in order to investigate sympatho-adrenal development during life. All adrenergic compounds are present in neonate urines on the first day of life, but their postnatal evolution is quite different according to the nature of metabolites. Daily E, MN and VMA amounts remain low until the 10th month of life; daily NE, MT and DOPA levels increase progressively, but, in contrast, NMN amounts are already high in the neonatal period and increase only beyond the fourth year of age. DA is at either age the predominant catecholamine but its elimination is relatively more important in the neonatal period.
Subject(s)
Aging , Catecholamines/urine , Dopamine/analogs & derivatives , 3,4-Dihydroxyphenylacetic Acid/urine , Adolescent , Adult , Child , Child, Preschool , Dihydroxyphenylalanine/urine , Dopamine/urine , Epinephrine/urine , Female , Humans , Infant , Infant, Newborn , Male , Metanephrine/urine , Middle Aged , Norepinephrine/urine , Normetanephrine/urine , Sexual Maturation , Vanilmandelic Acid/urineSubject(s)
Pneumoperitoneum/etiology , Pneumothorax/etiology , Respiratory Distress Syndrome, Newborn/complications , Female , Humans , Infant, Newborn , Lymphangiectasis/diagnostic imaging , Lymphangiectasis/etiology , Pneumoperitoneum/diagnostic imaging , Pneumothorax/diagnostic imaging , Radiography , Respiratory Distress Syndrome, Newborn/diagnostic imagingABSTRACT
Immunological and pathological studies in a case of partial Di George syndrome revealed an absence of parathyroids, a major hypoplasia of thymus but a relatively moderate decrease in peripheral T-lymphocyte numbers and functions. After in vitro incubation with normal thymus extracts, a normal proportion of bone marrow cells was induced to differentiate into cells with characteristics of T lymphocytes, thus establishing the presence of T-cell precursors in the patient's bone marrow.
Subject(s)
Immunologic Deficiency Syndromes/immunology , Lymphocyte Activation/drug effects , Parathyroid Glands/abnormalities , T-Lymphocytes/immunology , Thymus Gland/abnormalities , Antigen-Antibody Reactions , Antilymphocyte Serum/pharmacology , Bone Marrow/immunology , Bone Marrow Cells , Concanavalin A/pharmacology , Female , Humans , Infant , Lymph Nodes/pathology , Parathyroid Glands/immunology , Spleen/pathology , Syndrome , Thymus Gland/immunology , Transfer Factor/pharmacologyABSTRACT
Three personal cases, and the cases of literature of congenital adrenal hypoplasia with cytomegaly allow an histological definition. Clinical and biological findings are described. In 2 cases, a diffused hypertrophy of the cells responsible for corticotrope or melanotrope secretion was discovered; it confirmed the peripheral adrenal origin of the condition, as well as high plasmatic level of ACTH, in the third case. Sex-bound cytomegalic adrenal hypoplasia is differenciated from other cortico-adrenal insufficiencies with cytomegaly.