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Cat-like cry and mental retardation owing to 7q interstitial deletion (7q22 leads to 7q32).

A patient with mental retardation and mild facial dysmorphism had a karyotype which was considered to be normal before the availability of chromosomal banding techniques. She had a history of a cat-like cry and severe feeding problems during infancy. At the age of 9, she was still found to have initial aphonia on trying to initiate sounds. Repeat chromosome analysis with G banding showed an interstitial deletion of the long arm of chromosome 7.

Abnormalities, Multiple↗

Measurements on hand radiographs from 32 cri-du-chat probands.

Various measurements were performed on the hand radiographs of 32 Danish cri-du-chat probands. Mean pattern profiles were made for males, females, children, and adults. Metacarpal index and relative slenderness for metacarpals and proximal phalanges were calculated. The hands were smaller than in normal persons of the same sex and age. In most of the probands, the 3rd, 4th, and 5th metacarpals were disproportionately short, and the 2nd, 3rd, 4th, and 5th proximal phalanges were disproportionately long. Only 1 case had a positive metacarpal sign.

Adolescent↗

Molecular analysis of a case of meiotic recombination leading to cri-du-chat syndrome.

This paper describes a molecular investigation of a woman with an apparent large pericentric inversion of chromosome 5, inv(5)(p14;q35), and one normal chromosome 5 and her child, who was born with cri-du-chat syndrome. The four chromosome 5 homologs from the proband and his mother were isolated in somatic cell hybrids, and their haplotypes were determined at nine loci polymorphic for restriction enzyme sites. The deleted chromosome in the proband was shown to carry alleles from both maternal homologs, verifying molecularly that a meiotic recombination event in the mother gave rise to her son's deleted chromosome 5. The single crossover was presumably near the centromere.

Chromosome Deletion↗

Neonatal asymmetric crying facies: a new look at an old problem.

Neonatal asymmetric crying facies, described 75 years ago, is a clinical phenotype resembling unilateral partial peripheral facial nerve paralysis, with an incidence of approximately 1 per 160 live births. The cause is either facial nerve compression or faulty facial muscle and/or nerve development. Spontaneous resolution is expected with the former, but not necessarily with the latter etiology. Approximately 10% of the developmental cases have associated major malformations. Mandibular asymmetry and maxillary-mandibular asynclitism (non-parallelism of the gums) are frequently overlooked visual clues to nerve compression. Ultrasound imaging of facial muscles and electrodiagnostic testing may be useful for differential diagnosis and management.

Crying↗

Antidepressant treatment of pathologic laughing or crying in elderly stroke patients.

Pathologic laughing or crying (PLC), a complication of many neurologic disorders, involves behavior that is either inappropriate to the context or to the patient's subjective feeling state. It is due to a dysregulation of the motoric components of emotional experience. PLC is distinct from, but often associated with, major depression. The relatively few reports on treatment of PLC are primarily with tricyclic antidepressants. We report the effective treatment of PLC due to stroke in three patients with nortriptyline or fluoxetine. The cases also illustrate the broad spectrum of depressive symptoms (from none to a major depression) seen in patients with PLC. We discuss treatment implications and directions for future research.

Aged↗

Pathological laughing and crying in multiple sclerosis: a preliminary report suggesting a role for the prefrontal cortex.

As part of a wide ranging study investigating the prevalence, demographic and disease related characteristics of pathological laughing and crying (PLC) in multiple sclerosis (MS), a putative role for the prefrontal cortex was also explored. Eleven multiple sclerosis (MS) patients with carefully defined PLC were compared to a control group of 13 MS patients without PLC on various cognitive indices known to be sensitive to frontal lobe dysfunction. Although the two groups did not differ with respect to age, sex, physical disability, disease course, duration of MS, years of education, premorbid IQ, and depression, the PLC group performed more poorly on the Stroop test and a measure of verbal fluency. They also showed a trend to make more total errors on the Wisconsin Card Sort Test. The relevance of these findings to the pathogenesis of PLC is discussed, in particular whether the syndrome is, in part, mediated by dysfunction of the prefrontal cortex.

Adult↗

Validation of the CNS emotional lability scale for pseudobulbar affect (pathological laughing and crying) in multiple sclerosis patients.

Pseudobulbar affect (PBA) or pathological laughing and crying (PLC) is a disorder of affect that occurs in about 10% of multiple sclerosis (MS) patients. The objective of this study was to validate the CNS Emotional Lability Scale (CNS-LS) in MS patients and to correlate the results with the frequency and intensity of episodes of PLC. Physicians at seven private practice referral centers in the United States made a diagnosis concerning PLC based on patient interviews. Clinical coordinators separately administered the CNS-LS, a self-report measure of PLC with seven questions, to MS patients, including patients known to exhibit PLC, patients thought to be free of PLC, and newly diagnosed patients where PLC status was unknown, and the physician was blinded as to the results. A receiver operating characteristic (ROC) curve analysis was performed to define a cut-off best correlating with the physician's diagnosis. Of 90 MS patients selected to complete the survey, 50 were physician diagnosed with PLC; 40 were without PLC, and 15 of these 90 patients were newly diagnosed with MS (<6 months). Scores of 17 or higher corresponded to a sensitivity of 0.94 and a specificity of 0.83 (LR+ = 5.5, LR- = 0.07); 89% of patients were correctly diagnosed. The area under the ROC curve was 0.95. Symptoms were greater in patients diagnosed as PLC than in non-PLC patients as evidenced by mean number of episodes/week, number of days/week with episodes, duration of an episode and total time in an episode. Similar results were observed if patients were classified as PLC or non-PLC according to CNS-LS score > or = 17, suggesting that the CNS-LS is a valid measure for the assessment of PLC in MS patients and could be a useful instrument for clinical and research purposes.

Adult↗

Developmental pattern of maximal transdiaphragmatic pressure in infants during crying.

Diaphragm strength was measured as maximal transdiaphragmatic pressure (Pdi) during airway occlusion in 38 infants aged 11.6 +/- 0.5 (S.E.) months postconception (mpc), range 8-21 mpc. All infants were asymptomatic at the time of study and required no mechanical ventilatory assistance. Ten infants had previous surgical correction of abdominal wall defects (gastroschisis/omphalocele); 10 infants had previous surgical correction of congenital diaphragmatic hernia; and 18 infants had no thoracic or abdominal surgery. The mean maximal Pdi for all infants was 72 +/- 3 cmH2O. There were no significant differences between the three groups. All infants with a maximal Pdi of less than 60 cmH2O were aged less than 10 mpc. After 13 mpc there was no significant increase in maximal Pdi. Between the ages 8-13 mpc there was a significant positive correlation between maximal Pdi and age postconception (r = 0.87, P less than 0.0005), reflecting a developmental pattern of increasing maximal transdiaphragmatic pressure in infants during crying.

Abdominal Muscles↗

Problem behaviors associated with deletion Prader-Willi, Smith-Magenis, and cri du chat syndromes.

Problem behaviors of individuals who had one of three chromosome deletion disorders (5p- cri-du-chat, 15q- Prader-Willi, or 17p- Smith-Magenis) were investigated. The Aberrant Behavior Checklist was used. Results were contrasted with those of two groups of people with mental retardation who were described in other studies. The checklist rates many, but not all, potentially relevant behaviors. Eating abnormalities, known to be problematic in Prader-Willi syndrome, and sleep abnormalities, believed to be problematic in Smith-Magenis syndrome, were not included in the survey. All three disorders were associated with greater ratings of problem behaviors than the comparison groups on at least one subscale of the checklist. The results lend support to the partial specificity model of behaviors associated with genetically determined syndromes.

Adolescent↗

Asymmetric crying facies and congenital hypothyroidism: report of two patients.

A congenital asymmetric crying facies (ACT) is caused by congenital hypoplasia or agenesis of the depressor anguli oris muscle. Associations of this facial defect with major congenital anomalies have been reported, most commonly in the cardiovascular system and less frequently involving the genitourinary, musculoskeletal, cervicofacial, respiratory, and rarely, the endocrine system. It is also well known that congenital hypothyroidism may be associated with other congenital malformations, especially with cardiac defects. Two newborn infants who had ACF associated with congenital heart defect and congenital hypothyroidism are described. To the best of our knowledge the association of ACF and congenital hypothyroidism has not previously been published.

Congenital Hypothyroidism↗

Sleep-related nighttime crying (yonaki) in Japan: a community-based study.

OBJECTIVE: To examine factors associated with the phenomenon of yonaki, or sleep-related nighttime crying (SRNC), in Japanese children METHODS: A cross-sectional design incorporating parental self-report was used to investigate relationships between developmental, psychologic, and constitutional/physiological factors in the incidence of SRNC. Participants were the parents of 170 infants, 174 toddlers, and 137 children at a well-infant clinic in Tokyo, Japan. RESULTS: The lifetime incidence rates of SRNC were 18.8% (infants), 64.9% (toddlers), and 59.9% (children). At all ages, children were most likely to cosleep with their parents; however, infants with reported SRNC were found to cosleep more frequently, whereas infants without SRNC were more likely to sleep in separate, child-dedicated beds. Toddlers with frequent SRNC were more likely to have irregular bedtimes and to have nonparental day care than were those without SRNC. Preschoolers who typically slept 9.5 to 10.5 hours per night were less likely to report SRNC than were children with longer or shorter nighttime sleep durations. In all groups, children with frequent SRNC were more likely to suffer from chronic eczema, and toddlers and preschoolers with SRNC exhibited bruxism more frequently. CONCLUSIONS: The traditional Japanese arrangement of cosleeping represents an environment in which parents are readily accessible to children during waking episodes. Physical proximity to the parents in infancy, but not at other ages, is associated with SRNC. The higher incidence of bruxism, chronic eczema, and day care use among children with frequent SRNC supports the hypothesis that nighttime anxiety may promote SRNC.

Bruxism↗

Cri du chat syndrome and congenital heart disease: a review of previously reported cases and presentation of an additional 21 cases from the Pediatric Cardiac Care Consortium.

OBJECTIVES: To analyze the cases submitted to the Pediatric Cardiac Care Consortium (PCCC) database from 1982 to 2002 to determine the frequency and distribution of congenital heart disease (CHD) found in this population, to review the literature for previously published accounts of CHD in this population, and to review current genotype-phenotype associations for cri du chat (CDC) syndrome with CHD. METHODS: We performed a retrospective review of the 98422 CHD cases submitted to the PCCC between 1982 and 2002, to find patients who had a noncardiac diagnosis of CDC syndrome. RESULTS: A total of 21 patients (15 female and 6 male patients) were identified. Although some patients had multiple cardiac anomalies, they were categorized according to primary diagnoses on the basis of the most hemodynamically significant component. The patient groups were ventricular septal defect (n = 6), patent ductus arteriosus (n = 6), tetralogy of Fallot (n = 5), pulmonary valve atresia with ventricular septal defect (n = 2), pulmonary valve stenosis (n = 1), and double-outlet right ventricle (n = 1). Eighteen of the 21 patients underwent surgical repair of their defects. There was 1 late operative death. To determine whether the observed frequency of these cardiac defects among patients with CDC syndrome was comparable to that of the general population of patients with CHD, data for all cases submitted to the PCCC from 1982 to 2002 were used. Use of these numbers to determine expected frequencies for these defects showed significantly greater proportions of patients with these specific lesions among the patients with CDC syndrome. CONCLUSIONS: Currently there is no clear understanding of the genomic cause of the prevalence of these defects in the population with CDC syndrome, although CHD has been noted among patients with other deletion syndromes.

Child↗

Learning from experience: differences in how novice vs. expert nurses diagnose why an infant is crying.

Diagnosing client health problems is a well-recognized task for nurses. This study examined the effects of nursing education and experience on that problem-solving process by comparing the performance of four groups of nurses. Junior and senior nursing students, nursing students who were parents, and pediatric nurses solved two computer-presented problems. The task involved acquiring information in order to evaluate competing causal hypotheses. One problem concerned why an infant was crying and the other was a control problem. A number of group differences were identified. The experienced groups of pediatric nurses and parents differed from the student nurses by using less information and selecting different information units, such as information about the infant's age, earlier in the problems. Parents were the most accurate; they did not select any incorrect hypotheses. The dual roles of education and experience are discussed and it is proposed that computer-presented simulations can be an important tool for understanding problem-solving processes, as well as for promoting clinical skill development.

Adult↗

Cri du chat syndrome and translocation t(5p--;18p+).

Two new cases of "cri du chat" syndrome are reported in sisters aged 2 years and one month, respectively. These cases allowed us to detect a translocation t(5p--;18p+) in the mother and to study the familial segregation of this structural chromosome anomaly. At the same time, results from the dermatoglyphic analysis of the propositi as well as those of the carriers of the translocation are also reported.

Child, Preschool↗

Cri-du-chat syndrome: clinical profile and prenatal diagnosis.

Prenatal diagnosis of cri-du-chat syndrome is described in 2 pregnancies. In Case 1, the mother was a balanced translocation carrier and had 2 previously affected off springs. Prenatal diagnosis by chorion villus sampling and cordocentesis was successful in diagnosing an affected conceptus and the pregnancy was electively terminated. Case 2 was referred for nonimmune foetal hydrops and cordocentesis revealed deletion 5p. This second case was noteworthy for the fact that deletion 5p has not been reported to cause foetal hydrops.

Chromosomes, Human, Pair 5↗

A randomised controlled trial of the effects of a cross-cut feeding teat on infant feeding, crying, waking and sleeping behaviour.

UNLABELLED: Feedback from mothers using a "cross-cut" teat indicated its use for problem feeders, particularly "windy" or "colicky" babies. The manufacturer commissioned a trial to see whether this observation was clinically valid. A randomised controlled trial comparing the cross-cut teat with a standard single-hole teat was designed. Both teats were identical in construction apart from the feed hole at the tip of the teat. A standard teat pierced with one hole is usually sold as slow, medium or fast flow rate, depending on the size of the hole. The cross-cut has two slits in the form of a cross opening in response to the baby's sucking. The stronger the suck the wider the cross opens, thus making the flow rate of the teat controlled by the baby. There is therefore no need to change to a teat with a faster flow rate as the baby grows. RESULTS: Babies fed with the cross-cut teat cried less and spent more time awake and content than babies fed with the standard teat.

Bottle Feeding↗

[Infants with and without "vivacità". Crying can be apprehended quite differently in different cultures].

The incidence of infantile colic seems to be diminishing, but 10 per cent of infants are still affected. Several different conditions loom under the umbrella of infantile colic--the most serious of which implies a disturbed parent-infant relationship. The interpretation of infant behaviour is dependent on the cultural context, and thus a "difficult" infant can be apprehended as full of "vivacità"--"liveliness". Some of the recent research focuses on aetiology in the CNS rather than in the gastrointestinal tract. Interventional studies on a population level are required in order to clarify to what extent the elimination of cow's milk protein is a cure for infantile colic. The advice given, for instance at well-baby clinics, to parents with crying infants varies, and should be evaluated systematically.

Adult↗

[Reverse type of cri du chat disease: 5 p trisomy].

Five patients with a trisomy of the main part of the short arm of a chromosome 5 represented with the clinical picture of the reversetype of the Cri-du-chat syndrome. Its main features are the spurt of gonions, prominent chin, prominent nose root, subnormal skull perimeter, low I.Q. and muscular hypotonia.

Adolescent↗