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Metabolic anomalies in cri du chat syndrome (5p-) lymphocytes and de novo purine synthesis.

Having previously demonstrated that patients with cri du chat, 5p- syndrome, have a highly significant excess of the plasmatic and urinary relative amount of asparagine and aspartate, the authors tested the hypothesis according to which this excess could be in relation with a defect of purine metabolism. Using a previously reported in vitro assay, they found a paradoxal increase in the mitotic index in the presence of L-alanosine in lymphocyte cultures of patients with 5p- who were on no medication. They also observed particularly severe toxicity to HAT medium. This response, apparently characteristic for 5p- syndrome, was highly significant when compared to the one observed in samples of normal controls, of patients with mental retardation of various etiologies, patients with Down syndrome or with Xqfra syndrome. When patients with cri du chat syndrome received inosine with folinic acid, an inversion of their response to alanosine was observed as well as the normalization of their response to HAT medium. These findings suggest that deletion of 5p14-5p15 leads to some impairment of de novo purine synthesis, the implications of these findings are discussed.

Adolescent↗

[The emotional reaction on other child patients caused by the crying of the uncooperative child patient].

The subjects were a total of 60 children, of which 30 were kindergarteners, and 30 were school age children. Changes in internal behavior were observed when the subjects were stimulated by only visual stimulation (V), only audio stimulation (A) and audio-visual stimulation (AV) of the crying of other child patients for 20 seconds each. The change ratios of the 3 stimuli were analyzed with respect to the plethysmogram (PL), the respiration curve (RC) and the galvanic skin reflex (GSR). The internal changes to the 3 stimuli of the crying were compared with difference in stimulus, age difference, sex difference, the difference of dental anxiety. 1) The change ratios decreased in the following order, AV greater than A greater than V on PL and RC. There were significant differences between V and A, also V and AV on PL and GSR. Based on the standardized score, the score decreased in the following order, AV greater than A greater than V, and there were significant differences between V and A, also V and AV. 2) Comparing age groups, kindergarteners showed larger change ratios than school age children for A and AV by GSR. Based on the standardized score, there were no significant age difference for each stimulation. 3) Comparing sex groups, there was a significant difference for A by PL. According to the standardized score, there was no significant sex difference for each stimulation. 4) There was no significant difference for each stimulation by the dental anxiety degree of the mother.

Age Factors↗

[Crying provoked by sound stimuli in a case of probable dementia of Alzheimer's type].

A case of pathological crying elicited only by non-verbal auditory stimulations in a woman with probable dementia of the Alzheimer type is reported. As neuropsychological data available in this case have suggested a greater involvement of left than right temporal cortex, the authors propose that the crying phenomenon could have been explained by a similar inter-hemispheric asymmetry in pathological involvement of the limbic structures.

Acoustic Stimulation↗

Empirical classification of infant-mother relationships from interactive behavior and crying during reunion.

Multiple discriminant function analysis (MDFA) was conducted with data from 255 Strange Situations conducted and scored by Ainsworth and her colleagues. Cross-validated discriminant functions and classification weights were obtained, allowing attachment classifications (A, B, C) to be assigned directly from scores on interactive behavior and crying during reunion episodes. In the past, classification agreement within laboratories has often been used as a training criterion. Unfortunately, this does not insure that classification criteria agreed upon within a laboratory are comparable across laboratories, nor does it insure that agreed upon criteria will yield the same classifications that would have been assigned by the researchers who developed the scoring system. The present results enable researchers who have mastered the scoring systems for reunion behavior and crying to obtain attachment classifications directly from scores on these variables. Alternatively, this procedure may be used to guide the training of, and validate classification decisions by, local judges.

Crying↗

[The crying infant].

The different types of crying which can be observed in the healthy and in the sick infant are described. Recent findings on behavioral and electrophysiological research are reviewed which led to a better understanding of the characteristics and possible causes of the different crying behaviors as well as of the effectiveness of therapeutical interventions.

Crying↗

Crying-induced bronchospasm in childhood asthma: response to medical management.

Crying-induced bronchospasm (CIB), cough and/or wheeze greater than or equal to 5 minutes during or after crying behavior, is a common feature of childhood asthma. Sixty CIB patients were evaluated during a 6-month clinical treatment study consisting of environmental and pharmacologic (xanthines, beta-agonist stimulants, and corticosteroids) interventions. Both CIB (P = .007) and non-CIB (P = .0005) symptoms were significantly reduced. CIB asthma had lesser reduction in wheezing than non-CIB (P less than .001), suggesting that nebulized medication and/or behavioral interventions may be of benefit to further reduce CIB symptoms.

Adolescent↗

Ocular findings in a newborn with cri du chat syndrome.

A deletion of the short arm of chromosome No. 5 has been termed the cri du chat (cat cry) syndrome. We report the first ophthalmologic examination of a newborn infant with this syndrome. Multiple ophthalmic abnormalities were found, including hypertelorism, telecanthus, epicanthal folds, antimongoloid palpebral fissures, exotropia, optic atrophy, and tortuosity of the retinal vasculature. It is of interest that these changes are congenital and present at birth, rather than developmental. Although such individuals are usually so severely mentally retarded that no ophthalmologic intervention is indicated, there are rare exceptions, and each case must be judged individually. Ten percent to 15% of these children inherit the chromosomal abnormality from phenotypically normal parents. Chromosomes from each parent should therefore be evaluated for the purposes of genetic counseling.

Cri-du-Chat Syndrome↗

[Facial asymmetry when crying. Apropos of 9 cases].

Authors report nine cases of asymmetric crying facies related to congenital aplasia or hypoplasia of depressor anguli oris muscle (DAOM). The interest of this abnormality consists in the frequently associated malformations (over 50%), specifically, congenital heart disease, urogenital, musculoskeletal and cervicofacial. This association occurs in five of our cases. Its genetical condition is significant: 22% in our own series. The paper emphasizes the easiness of diagnosis (merely observing the baby crying) and also its frequency, higher than usually thought.

Abnormalities, Multiple↗

Managing the crying child patient.

All crying is learned, and maintained through modeling, suggestion, reinforcement, and incompatible behavior. These same principles can be applied to changing crying-behavior into relaxed and cooperative behavior in children.

Behavior Therapy↗

[A case of "cri-du-chat" syndrome with meningomyelocele (author's transl)].

This patients is a 48-day-old girl, born as the third child from a 29-year-old healthy mother. The pregnancy was uneventful, and the delivery was normal. Right after birth, she had episode of asphyxia for several minutes. Her weight of birth was 2,600 g, and the head circumference was 30.4 cm. Dyspnea and cyanosis after feeding were noted on the second day. At the time of admission to our service, she showed typical symptoms of "cri-du-chat" syndrome, namely, characteristic cry, mental retardation (DQ was 48), microcephaly (head circumference was 34.5 cm), rounded face, hypertelorism, oblique palpebral fissures, epicanthus, low-set ears, micrognathia, short neck, simian crease. Other abnormalities such as umbilical hernia, prolapsus ani, dislocation of the hip joint, and lumbosacral meningomyelocele. Cerebral angiogram demonstrated no pathological findings. Pneumoencephalogram showed accumulation of air at the cranial base. Operation was performed for repair of meningomyelocele at the age of 50 days. Postoperative course was smooth.

Chromosomes, Human, 4-5↗

Reducing crying and irritability in neonates using a continuously controlled early environment.

A mother's "holding" environment has been shown to be effective in reducing infant crying and irritability. When mothers hold or cuddle their infants they create a microenvironment with stimuli similar to those of the intrauterine environment. Several of these same stimuli were incorporated into a cradle designed to provide a similar "holding" environment for the infant when the mother was not there. Ninety healthy term newborn infants were randomized to an experimental (n = 45) or control group (n = 45). The experimental group used a cradle that produced motion, sound, tactile (containment), and reduced-light stimuli at stimulus levels that initially approximated intrauterine sensory stimulation levels and gradually decreased to the levels of the home environment over 16 weeks. The control group used an identical cradle with no stimulus modulation features. Infants were placed in their respective cradles from 2 hours after birth during the times they would normally be placed in an infant bed. The mother-infant interaction or parenting style was not changed or manipulated. Mothers' use of the cradles did not differ significantly. An electronic status monitor measured and recorded infant presence and crying in the cradles. The Brazelton Neonatal Behavioral Assessment Scale test was done at 1 to 2, 14, and 24 days of age by "blinded" examiners. Additionally, phone calls and home visits were conducted by a registered nurse.(ABSTRACT TRUNCATED AT 250 WORDS)

Adult↗

Cerebellar vermis hypoplasia in a case of cri-du-chat syndrome.

We describe a 6-year-old child who presented the phenotype of cri-du-chat disease. The study of her caryotype confirmed an interstitial deletion of the short arm of chromosome 5. The neurological examination showed mental retardation, behavioral disturbances and features of cerebellar and cortico-spinal impairment. The MRI scan of the brain showed hypoplasia of the vermis associated with dysgenesia of the corpus callosum. This is the first report of vermian hypoplasia in cri-du-chat disease. We suggest that the most likely pathogenesis of this malformation is a midline dysraphia.

Cerebellum↗

[Infants who cry a lot: incidence and management of this problem in family practice].

OBJECTIVE: To determine how frequently general practitioners (GPs) are consulted because of excessively crying infants and how such infants are managed. SETTING: A stratified sample of 103 GP practices throughout The Netherlands. DESIGN: Descriptive. METHOD: 161 GPs from 103 practices for one year (in four groups, each for three months) recorded all their contacts with patients as a part of the National Study of Diseases and Items of Service in General Practice, conducted by the Netherlands Institute for Primary Health Care Research. An inventory was made of the infants who fulfilled the criteria of the 'colic syndrome' as to age, symptomatology and diagnosis. RESULTS: Of the infants seen by the GPs, 10% displayed symptoms of excessive crying, colic or restlessness. In over one-third of this group a colic-like diagnosis was made; of the children from zero to four months this proportion was two-thirds. The probability of a child in the age group of 0 to 4 months being seen by the GP with colic-like symptoms and diagnosis amounted to 7.1% (cumulative incidence). The majority of the GPs were certain of their (mostly somatic) diagnoses. The GPs were consulted more often about these children, apart from the colic problem, than about their contemporaries, the difference being statistically significant. In only 30% of the cases did the GPs prescribe medication or a diet, or made a referral.

Colic↗

The effects of maternal alcohol consumption and cigarette smoking during pregnancy on acoustic cry analysis.

During the last trimester of pregnancy, 127 primiparous Irish mothers were interviewed to ascertain their history of alcohol and tobacco use. Confounding effects due to other drugs were not a factor in this sample. Mothers consumed an average of .21 ounces absolute alcohol (AA) per day, with 62% classified as moderate drinkers, 10.6% as heavy drinkers, and 26% as nondrinkers. Neurobehavioral status was measured using acoustic characteristics of the infant's cry, collected on the third day of life. Multiple regression analysis showed that more ounces AA per day was related to more dysphonation and higher first formant, while more cigarette smoking was related to higher pitch, higher second formant, and more variability in the second formant. Analysis of variance comparisons of these 3 alcohol groups demonstrated significant cry effects on infants of heavy drinking mothers.

Adolescent↗

[Pathologic laughing and crying in neurologic disorders].

Affective disorders are complications of many nervous system diseases. Pathological laughing and crying may accompany cerebrovascular lesions, multiple sclerosis, ALS, Alzheimer disease or cerebral tumours. Precise mechanisms of how these disorders arise are still unknown. Reviews of the literature were been accomplished in the article where, taking the examples of stroke and multiple sclerosis, have been discussed: the clinic picture, pathogenesis in neuroanatomic and neurophysiologic aspects as well as diagnostic criteria and the treatment of uncontrolled pathological laughing and/or crying.

Crying↗

Colic and crying syndromes in infants.

Colic or excessive crying is one of the most frequent problems presented to pediatricians by new parents. Organic disease accounts for <5% of infants presenting with colic syndrome. Colic may be best viewed as a clinical manifestation of normal emotional development, in which an infant has diminished capacity to regulate crying duration.

Colic↗

Expression of melanin-concentrating hormone receptors in insulin-producing cells: MCH stimulates insulin release in RINm5F and CRI-G1 cell-lines.

Melanin-concentrating hormone (MCH) is a hypothalamic orexigenic peptide. Recently, an orphan G-protein-coupled receptor (SLC-1) was identified that binds MCH with high affinity. Here, we demonstrate the mRNA expression of this receptor in insulin-producing cells including CRI-G1 and RINm5F cells, and in rat islets of Langerhans. Immunofluorescence studies in CRI-G1 and RINm5F cell-lines demonstrated cell-surface expression of the receptor. Rat MCH significantly stimulated insulin secretion in both cell-lines. The potency and the efficacy of MCH were significantly increased in the simultaneous presence of forskolin, suggesting that MCH may amplify the insulinotropic effect of cyclic AMP elevating stimuli. Salmon MCH, which differs from rat/human MCH by six amino acids, was less efficacious than rat/human MCH in stimulating insulin release. The data provide evidence for the expression of MCH receptors in insulin producing cells. The insulinotropic effect of MCH may contribute to the regulation of metabolism and energy balance by this peptide.

Animals↗

The effects of pyridine nucleotides on the activity of a calcium-activated nonselective cation channel in the rat insulinoma cell line, CRI-G1.

The activity of a calcium-activated nonselective (Ca-NS+) channel in a rat insulinoma cell line (CRI-G1) is inhibited by pyridine nucleotides in excised patches. The effects of all four pyridine nucleotides tested, beta-NAD+, beta-NADH, beta-NADP+ and beta-NADPH were very similar when tested at 0.1 mM, and at 1 mM the phosphorylated forms, beta-NADP+ and beta-NADPH, appeared to be slightly more potent than beta-NAD+ and beta-NADH. All the pyridine nucleotides tested reduced both the open state probability of the channel and the number of functional channels observed in a single patch. The application of beta-NAD+, but not of the other nucleotides tested, to the cytoplasmic surface of isolated inside-out patches from CRI-G1 cells opened a novel nonselective cation channel (the beta-NAD(+)-NS+ channel). The activity of this new channel is calcium sensitive and may also be inhibited by AMP.

Animals↗