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At least 613 records · Page 34Linked to original sources
PubMed2005

Asymmetric crying facies: a possible marker for congenital malformations.

Asymmetric crying facies (ACF) is caused by agenesis or hypoplasia of the depressor anguli oris muscle on one side of the mouth. Though it is an isolated finding in most cases, ACF can be associated with other congenital malformations especially of the cardiovascular system. We report a case of ACF that was subsequently diagnosed as Cayler syndrome based on associated tetralogy of Fallot (TOF) and deletion of chromosome 22q11.

Cardiomegaly↗
PubMed2003

Deletion of the telomerase reverse transcriptase gene and haploinsufficiency of telomere maintenance in Cri du chat syndrome.

Cri du chat syndrome (CdCS) results from loss of the distal portion of chromosome 5p, where the telomerase reverse transcriptase (hTERT) gene is localized (5p15.33). hTERT is the rate-limiting component for telomerase activity that is essential for telomere-length maintenance and sustained cell proliferation. Here, we show that a concomitant deletion of the hTERT allele occurs in all 10 patients with CdCS whom we examined. Induction of hTERT mRNA in proliferating lymphocytes derived from five of seven patients was lower than that in unaffected control individuals (P<.05). The patient lymphocytes exhibited shorter telomeres than age-matched unaffected individuals (P<.0001). A reduction in replicative life span and a high rate of chromosome fusions were observed in cultured patient fibroblasts. Reconstitution of telomerase activity by ectopic expression of hTERT extended the telomere length, increased the population doublings, and prevented the end-to-end fusion of chromosomes. We conclude that hTERT is limiting and haploinsufficient for telomere maintenance in humans in vivo. Accordingly, the hTERT deletion may be one genetic element contributing to the phenotypic changes in CdCS.

Adolescent↗
PubMed1997

A high-resolution physical and transcript map of the Cri du chat region of human chromosome 5p.

A high-resolution physical and transcription map has been generated of a 3.5-Mb region of 5p15.2 that is associated with the Cri du chat (CDC) syndrome. Utilizing a variety of resources including a natural deletion panel, a chromosome specific radiation hybrid panel, and YAC, PAC, and BAC genomic clones we have ordered > 60 STSs within this region. Approximately 45% of these STSs were obtained from publicly available whole genome maps, thus allowing for integration of this map with currently available resources. Thirteen of these markers were ESTs. In addition, > 70 exon trapped products have been mapped on the natural deletion panel and bacterial clone resource. The combination of these resources has allowed for the identification of 17 transcripts within this region, all of which represent candidate genes for CDC. Further characterization of the genomic contig also revealed that this region of 5p15 contains a large number of repetitive elements.

Base Sequence↗
PubMed1977

Translocation Y/5 resulting in Cri du Chat syndrome.

A case of 45,X,del(5)(p14/45,X,t(Y;5)(q11;p14) mosaicism is described. The patient displays the clinical features of the Cri du Chat syndrome, together with gross malformation of the distal left arm. The presence of male sex development is consistent with the location of factor(s) controlling the male sex determination in the paracentromeric area of the Y chromosome.

Arm↗
PubMed1977

Dermatoglyphics in Cri du Chat syndrome.

The dermatoglyphics of 33 Japanese (20 females and 13 males) with Cri du Chat syndrome were compared with 544 male and 129 female controls. In these cases, 18 cases were described only with regard to simian crease and distal axial triradius. It was found that these patients showed high frequencies of certain characteristics such as whorl pattern, arch pattern, thenar pattern, bilateral simian creases and distally displaced axial triradii on both palms (t').

Cri-du-Chat Syndrome↗
PubMed1979

Anthropometry in the Cri du Chat syndrome.

Anthropometric and cranial X-ray measurements of 35 individuals with a 5p- karyotype showed a general growth retardation. Height, weight, circumference of the thorax, pelvic breadth, and the size of the skull, face, hands and feet were all subnormal. Only the inner canthal distance was moderately increased, especially in young individuals, but there was no true hypertelorism. The palate was not high-arched. Large and small terminal deletions produced much the same anthropometric features; and the proband's sex did not have a major influence. Age variations within parameters examined followed the developmental pattern of normal individuals. A certain phenotypical variation in the Cri du Chat syndrome may therefore be attributed to normal changes or to intrapersonal conditions.

Adolescent↗
PubMed1990

Two cases of cri-du-chat syndrome with mild phenotypic effect but with different size of 5p deletion.

The clinical and cytogenetic findings of two cases of cri-du-chat syndrome are described. Both cases were females with only slight growth delay, moderate mental disability and minimal phenotypic effects. The mild phenotype was difficult to correlate with the karyotype, which on GTG and RBG banding showed that each had a regular de novo 5p deletion. The deletion in Case 1 was terminal - 46,XX,del(5) (pter----p15.2:) and in Case 2 it was interstitial - 46,XX,del(5) (pter----p15.2::p13.3----qter). The deletion in Case 2 was considerably larger than in Case 1.

Child↗
PubMed1997

Correlates of maladaptive behavior in individuals with 5p- (cri du chat) syndrome.

This study examined the range, distinctiveness, and correlates of maladaptive behavior in 146 subjects with 5p- (cri du chat) syndrome using the Aberrant Behavior Checklist as a standardized measure. Hyperactivity was the most significant and frequent problem in the sample. Subjects with 5p- syndrome also showed aggression, tantrums, self-injurious behavior, and stereotypies; some of these problems were more pronounced in individuals with lower cognitive-adaptive levels, as well as in those with histories of previous medication trials. Autistic-like features and social withdrawal were more characteristic of individuals with translocations as opposed to deletions, even when controlling for the lower adaptive level of the translocation group. These findings encourage further research on the behavior of individuals with 5p- syndrome.

Adjustment Disorders↗
PubMed1997

Families of children with 5p- (cri du chat) syndrome: familial stress and sibling reactions.

This research examined family stress and sibling reactions in families of children with 5p- (cri du chat) syndrome aged 1 to 18 years who were living at home. In Study 1, 99 parents reported on themselves and their child with 5p-, as well as on family demographics, social supports, and stress. The best predictor of familial stress was the child's amount of maladaptive behavior, accounting for 12 to 38% of the variance across different stress measures. In Study 2, sibling concerns were examined in 44 unaffected siblings. The major finding was that parents and siblings disagreed on the extent of the siblings' interpersonal concerns. Parents reported that siblings felt ignored and misunderstood, whereas siblings themselves rated these concerns at much lower levels.

Adolescent↗
PubMed1995

Nurses' advice to parents with a crying infant.

Child-Health Centres (CHC) in Sweden have a very good reputation. Despite the non-obligatory status of the CHC, most families visit these centres. With the purpose of studying nurses' work in general and especially in relation to their dealing with crying infants, an interview study was carried out at eight CHCs in a district in Stockholm. The results were analysed with focus on nurse-parent relationships, paternalism, and nursing subculture. The findings of this study suggest that nurses at CHC work purposefully to develop a favourable relationship with parents, though sometimes they adopt a paternalistic approach. Their knowledge of research in pediatrics in general and in child health care in particular is good, but a degree of wariness of research findings is evident.

Child Guidance Clinics↗
PubMed2005

Can cry in the newborn be used as an assessment of pain?

UNLABELLED: Pain in the neonate is a complex subject. The assessment of pain should be simple and clinically usable. So far, the scales that have been used to assess pain are too time consuming and complex. The analysis of cry in a simple manner, as described in this issue of Acta Paediatrica by Bellieni et al., could be used in a simple and effective way at the bedside. CONCLUSION: Since sick and premature newborns are not studied, the scale needs further confirmation.

Crying↗
PubMed1975

Case report: an asthmatic adolescent and his "repressed cry" for his mother.

A case of asthma in an adolescent male is presented. Involvement of the patient in individual, group and family psychotherapy is discussed in detail and particular emphasis placed on the use of family sessions as a therapeutic tool. Alexander's concept of the "repressed cry for the lost mother" is suggested as of aetiological importance.

Adolescent↗
PubMed1976

Crying vital capacity. Measurement of neonatal lung function.

Serial measurements of crying vital capacity (CVC), expressed as ml/cm chest circumference, were made by reverse plethysmography during the first 2 weeks of life. Clinically normal babies born at term by elective caesarean section had a smaller mean CVC in the first 2 weeks of life compared with clinically normal term babies born vaginally. In contrast, no significant difference was shown between the mean CVC in term babies born vaginally and those born by urgent caesarean section. Clinically normal term babies born by caesarean section (elective and urgent) had a smaller mean percentage rise of CVC in the first 24 hours of life and a significant delayed rise of CVC from 24-48 hours compared with those born vaginally. Clinically normal preterm babies born vaginally had a smaller mean CVC in the first 2 weeks of life compared with term babies born vaginally, and were characterized by a significant rise of CVC from 5-10 days. Babies with hyaline membrane disease (HMD) had a smaller CVC in the first 2 weeks of life compared with clinically normal preterm babies. Babies of various gestational ages with transient tachypnoea (TT) had a smaller mean CVC in the first 2 weeks of life compared with clinically normal term babies, but a similar mean CVC in the first 72 hours of life compared with clinically normal preterm babies. At each postnatal age the mean CVC of babies with HMD was less than the corresponding mean in babies with TT. All babies with TT had a rise in CVC from 24-48 hours, whereas CVC fell in all babies with HMD except one during this period. CVC is a simple, safe, rapid, and noninvasive test of neonatal lung function, and is a valuable aid to other methods of assessing pulmonary function in the neonate with respiratory distress.

Age Factors↗
PubMed1993

Effect of sucrose on crying in response to heel stab.

It has been suggested that sucrose acts as an analgesic in the neonatal period. To evaluate this further, 52 infants received either 2 ml of 7.5% sucrose or 2 ml of sterile water before heel stab blood sampling. The duration of crying in response to sampling did not differ in the two groups but was related to level of arousal at the time of stimulation.

Analgesia↗
PubMed2001

Extent of fussing and colic type crying preceding atopic disease.

In a prospective follow up of 116 high risk infants, a 24 hour behavioural chart on seven consecutive days was analysed at seven and 12 weeks of age. Of children who manifested atopic disease at 2 years, 44/116 (38%), had shown significantly more fussing during the seventh, and colic type cry during the twelfth week than those who remained healthy (72/116, 62%).

Colic↗
PubMed2001

Growth study of cri du chat syndrome.

We compared the growth of children with cri du chat (5p-) syndrome with the 1990 UK growth curves. Most subjects had impaired growth, particularly of head circumference. The more emaciated the child the more pronounced the microcephaly, showing the need for growth and nutrition monitoring.

Adolescent↗