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Breakpoint delineation in 5p- patients leads to new insights about microcephaly and the typical high-pitched cry.
Chehimi SN, Zanardo ÉA, Ceroni JRM, Nascimento AM, Madia FAR, Dias AT, Filho GMN, Montenegro MM, Damasceno J, Costa TVMM, Gasparini Y, Kim CA, Kulikowski LD. Chehimi SN, et al. Mol Genet Genomic Med. 2020 Feb;8(2):e957. doi: 10.1002/mgg3.957. Epub 2019 Sep 30. Mol Genet Genomic Med. 2020. PMID: 31568707 Free PMC article.
BACKGROUND: Cri du chat syndrome (CdCS) is a rare syndrome caused by a partial or complete deletion of the short arm of chromosome 5 (5p-). The main clinical features include a high-pitched cry, facial asymmetry, microcephaly, round face at birth, epicanthal …
BACKGROUND: Cri du chat syndrome (CdCS) is a rare syndrome caused by a partial or complete deletion of the short arm of chromosome 5 (5p-). …
5p deletions: Current knowledge and future directions.
Nguyen JM, Qualmann KJ, Okashah R, Reilly A, Alexeyev MF, Campbell DJ. Nguyen JM, et al. Am J Med Genet C Semin Med Genet. 2015 Sep;169(3):224-38. doi: 10.1002/ajmg.c.31444. Epub 2015 Aug 3. Am J Med Genet C Semin Med Genet. 2015. PMID: 26235846 Free PMC article. Review.
Disorders resulting from 5p deletions (5p-) were first recognized by Lejeune et al. in 1963 [Lejeune et al. (1963); C R Hebd Seances Acad Sci 257:3098-3102]. 5p- is caused by partial or total deletion of the short arm of chromosome 5. The most recognizable phenotype is characteri …
Disorders resulting from 5p deletions (5p-) were first recognized by Lejeune et al. in 1963 [Lejeune et al. (1963); C R Hebd Seances Acad Sc …
Too quiet.
Augustine J. Augustine J. Emerg Med Serv. 2004 Jul;33(7):32. Emerg Med Serv. 2004. PMID: 15327169
The Yale Observation Scale uses six criteria to stratify the ill child. The ill child will have poor color, a weak or high-pitched cry, poor hydration (dry diaper and mucous membranes), little reaction to parental stimulation, little arousal or continuous sle …
The Yale Observation Scale uses six criteria to stratify the ill child. The ill child will have poor color, a weak or high-pitched …
Is Lumbar Puncture Avoidable in Low-Risk Neonates with Suspected Sepsis?
Dalai R, Dutta S, Pal A, Sundaram V, Jayashree M. Dalai R, et al. Am J Perinatol. 2022 Jan;39(1):99-105. doi: 10.1055/s-0040-1714397. Epub 2020 Jul 21. Am J Perinatol. 2022. PMID: 32693413
RESULTS: There were 121 episodes of "definite or possible meningitis" among 300 episodes of sepsis. On unadjusted analysis, apnea, irritability, high-pitched cry, seizures, neutrophilia, high C-reactive protein (CRP), score for acute neonatal physiology and p …
RESULTS: There were 121 episodes of "definite or possible meningitis" among 300 episodes of sepsis. On unadjusted analysis, apnea, irritabil …
Clinical features to distinguish meningitis among young infants at a rural Kenyan hospital.
Obiero CW, Mturi N, Mwarumba S, Ngari M, Newton C, Boele van Hensbroek M, Berkley JA. Obiero CW, et al. Arch Dis Child. 2021 Feb;106(2):130-136. doi: 10.1136/archdischild-2020-318913. Epub 2020 Aug 20. Arch Dis Child. 2021. PMID: 32819909 Free PMC article.
OBJECTIVE: We conducted a diagnostic validation study to investigate the performance of clinical features (fever, convulsions, irritability, bulging fontanel and temperature 39C) and WHO-recommended signs (drowsiness, lethargy, unconsciousness, convulsions, bulging fontanel, irri …
OBJECTIVE: We conducted a diagnostic validation study to investigate the performance of clinical features (fever, convulsions, irritability, …
Association of a Simplified Finnegan Neonatal Abstinence Scoring Tool With the Need for Pharmacologic Treatment for Neonatal Abstinence Syndrome.
Devlin LA, Breeze JL, Terrin N, Gomez Pomar E, Bada H, Finnegan LP, O'Grady KE, Jones HE, Lester B, Davis JM. Devlin LA, et al. JAMA Netw Open. 2020 Apr 1;3(4):e202275. doi: 10.1001/jamanetworkopen.2020.2275. JAMA Netw Open. 2020. PMID: 32267513 Free PMC article.
RESULTS: Among 424 neonates (gestational age, 36 weeks; 217 [51%] female infants), convulsions were not observed, and high-pitched cry and hyperactive Moro reflex had extremely different frequencies across cohorts. ...
RESULTS: Among 424 neonates (gestational age, 36 weeks; 217 [51%] female infants), convulsions were not observed, and high-pitched …
Intended sensitive and harsh caregiving responses to infant crying: the role of cry pitch and perceived urgency in an adult twin sample.
Out D, Pieper S, Bakermans-Kranenburg MJ, Zeskind PS, van Ijzendoorn MH. Out D, et al. Child Abuse Negl. 2010 Nov;34(11):863-73. doi: 10.1016/j.chiabu.2010.05.003. Child Abuse Negl. 2010. PMID: 20889206
Adults were more likely to indicate sensitive caregiving responses to higher-pitched cry sounds and when they perceived the cries as more urgent, while high-pitched cry sounds were also directly associated with harsh caregiving responses. ...
Adults were more likely to indicate sensitive caregiving responses to higher-pitched cry sounds and when they perceived the cries as more ur …
Peters anomaly in cri-du-chat syndrome.
Hope WC, Cordovez JA, Capasso JE, Hammersmith KM, Eagle RC, Lall-Trail J, Levin AV. Hope WC, et al. J AAPOS. 2015 Jun;19(3):277-9. doi: 10.1016/j.jaapos.2015.01.018. J AAPOS. 2015. PMID: 26059676
The cri-du-chat syndrome is a rare genetic disorder caused by deletions in the short arm of chromosome 5. It presents with a distinctive catlike high-pitched cry, psychomotor delays, microcephaly, craniofacial abnormalities, and, in many cases, ocular finding …
The cri-du-chat syndrome is a rare genetic disorder caused by deletions in the short arm of chromosome 5. It presents with a distinctive cat …
Intussusception in a 7-week-old baby.
Adiotomre P, Asumang E, Godbole P. Adiotomre P, et al. BMJ Case Rep. 2013 May 15;2013:bcr2012008518. doi: 10.1136/bcr-2012-008518. BMJ Case Rep. 2013. PMID: 23682081 Free PMC article.
A 7-week-old baby presented to a district general hospital with a history of pallor, lethargy, vomiting and high pitched cry. She had vomited three times at home. It was reported that the last vomitus had a greenish tinge to it. ...
A 7-week-old baby presented to a district general hospital with a history of pallor, lethargy, vomiting and high pitched cr …
Vitamin K deficiency--late onset intracranial haemorrhage.
Aydinli N, Citak A, Calişkan M, Karaböcüoglu M, Baysal S, Ozmen M. Aydinli N, et al. Eur J Paediatr Neurol. 1998;2(4):199-203. doi: 10.1016/s1090-3798(98)80020-2. Eur J Paediatr Neurol. 1998. PMID: 10726592
The presenting complaints were seizures (91%), drowsiness (82%), poor sucking (64%), vomiting (46%), fever (46%), pallor (46%), acute diarrhoea (27%), irritability and high-pitched cry (18%). On examination, tense or bulging fontanelle (73%), anisocoria (36%) …
The presenting complaints were seizures (91%), drowsiness (82%), poor sucking (64%), vomiting (46%), fever (46%), pallor (46%), acute diarrh …
18 results