Esterase-D phenotypes were determined in a population sample of Tuscany, Italy. The observed frequencies of the three alleles are: EsD1 = 0.856, EsD2 = 0.143 and EsD3 = 0.001. Studies of the pedigree of the propositus's EsD 3--1 family and mother-child combinations confirm an autosomal co-dominant inheritance.

Erythrocytes↗

PubMed1968

[On torsion of the testis in the child].

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Child↗

PubMedDate not supplied

[Fever as periodic disorder].

Slight, moderate but also high rises in temperature, excluding other causes of fever, can be considered symptoms of periodic syndrome originating by hypothalamic centers as soon as headache, recurrent abdominal pains, growing pains, dizziness, kinetosis. These rises aren't uncommon, but often aren't considered important and this few statistics are available. The Authors present 16 case reports of fever as periodic symptom and discuss how common factors exist in the mechanism of hyperthermia and other clinical signs of periodic syndrome (ex. migraine) but they are generally modulated differently so that disturbance of temperature regulation predominates in the first case, pain in the second.

Abdominal Pain↗

PubMedDate not supplied

[Comparison of periodic syndrome and spasmophilia].

Two casual clinical observations here reported allow the Authors to discuss the possible relationships between periodic syndrome and spasmophilia. Particularly they stress how these common causes of recurrent symptoms (abdominal pain, headache, growing pains, anxiety, irritability) can be the same clinical entity. This suspicion is confirmed by EMG investigation: 25 children with periodic syndrome (8 males, 17 females; 8-13 years) and 10 normal subjects (6-11 years) participate in this study. Post-ischemic EMG shows signs of neuromuscular hyperexcitability as in spasmophilia in 21 children (84%) of the first group and only in 3 of the second group. Such findings should be regarded as the first step towards a better definition of the relationships between periodic syndrome and spasmophilia.

Adolescent↗

PubMedDate not supplied

[A diagnostic controversy: the significance of 14-6/sec positive spikes in clinical electroencephalography].

There has been a great dealt of discussion as to the clinical significance of E.E.G. 14-6 per second positive spikes (14-6 PS), a short burst lasting one second or less which occurs during light sleep in monopolar recordings, mainly in the posterior temporal regions and usually involving the parietal and occipital regions as well, for the most part in unsymmetrical fashion. Early interpretations stress the epileptic nature of vegetative attacks in patients with an inter-critical E.E.G. reading characterized by 14-6 P.S. Subsequently, however, this hypothesis has been refuted, mainly because E.E.G. intra-critical recordings have never shown evidence of any sort of paroxysmal activity. At present time expert think that the presence of 14-6 PS may be merely an indication of an electrical alteration associated with disorders in the neurovegetative area. In order to evaluate the possibility of using them as a diagnostic marker of migraine equivalents and periodic syndromes, we reviewed wake and sleep E.E.G. recordings, carried out consecutively and hence not selectively, in 617 children aged 5-16 years. 14-6 PS were present in 109 children (17.6%), 63 of whom showed evident symptoms of periodic syndrome (headache, recurrent abdominal pain, cyclic vomiting, kinetosis, etc.); hence 46 E.E.G. recording were false positive. 510 children were lacking in 14-6 PS, 91 of these presented symptoms of periodic syndromes (false negative). 14-6 PS are hence a marker 40.9% sensitive, 90.1% specific, with a predictable value of 57.7%. The search for 14-6 PS in children with periodic syndrome is not particularly sensitive as a test, but it is fairly specific: it may well constitute an useful element in diagnosis.

Adolescent↗

PubMedDate not supplied

[Transient neuromotor anomalies in the follow-up of the newborn infant at risk].

The case history in question refers to 94 high-risk babies, 24 of whom (25%) had neuromotor problems at some time during the first year. Of these, 15 have continued to be supervised up to the present time, i.e. to the age of four. Eight of them have had overall motor treatment and seven have had constant check-ups, advice on posture and active encouragement to move their bodies. All 15 infants developed normal neuromotor behaviour by the age of two (only one was retarded in speech). We therefore feel justified in not encouraging indiscriminate remedial therapy in all cases of abnormal development. It should be used only in those cases in which there are serious, persistent problems in the sphere of feeling and relating.

Follow-Up Studies↗

PubMedDate not supplied

[The possibility of preventing interactive disorders in the case of prolonged mother-infant separation at birth].

Considerable concern has been expressed that separation of mother and child following birth may interfere with early parent-child relationship and give to problems in the later psychosocial development of the child. In earlier publications we have evaluated the aspects of parents' emotional state and parent-infant interaction in 43 high-risk babies, hospitalized at birth for a period of one-three months. Recurrent interactive patterns and psychosomatic disturbances have been defined in their peculiarities. In this study we expose the results of our experience with 35 infants having the same characteristics as the preceding group, after adopting measures which elicit the parents' participation in looking after the baby in NICU and after studying methodologies of intervention during the follow-up programs which assess the neuropsychological conditions of the infants and their relations with their parents. We have observed a significant reduction of psychosomatic disturbances in the second group (20% vs 64%).

Adult↗

PubMedDate not supplied

[Serum bile acids in the newborn: our experience].

The study of bile acids in the newborn permits to the AA. to point out that the beginning of the feeding does not influence the "physiologic cholestasis" of the first days of life. Neonatal cholestasis is the expression of the immaturity of bile acids synthesis and hepatic and intestinal carriage, which is not correlated with the maternal conditions. Furthermore, the AA. discuss about the analogy between cholestasis and "physiologic hyperbilirubinemia", from which it differs for the longer time. In fact, the maturation of the enterohepatic circle occurs very slowly under possible dietetic factors influences.

Adult↗