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The Cri du Chat syndrome (CdCS) is a genetic disease resulting from a deletion of variable size occurring on the short arm of chromosome 5 (5p-). The incidence ranges from 1:15,000 to 1:50,000 live-born infants. The main clinical features are a high-pitched monochromatic cry, microcephaly, broad nasal bridge, epicanthal folds, micrognathia, abnormal dermatoglyphics, and severe psychomotor and mental retardation. Malformations, although not very frequent, may be present: cardiac, neurological and renal abnormalities, preauricular tags, syndactyly, hypospadias, and cryptorchidism. Molecular cytogenetic analysis has allowed a cytogenetic and phenotypic map of 5p to be defined, even if results from the studies reported up to now are not completely in agreement. Genotype-phenotype correlation studies showed a clinical and cytogenetic variability.
Cri du Chat Syndrome is caused by a missing section of the short arm of the fifth chromosome (5p-, in medical terms). Around 85% of the time it is random, but in around 15% of cases it’s inherited from a parent who may have the missing part, but not in the right place. Interesting facts about Cri Du Chat syndrome: #1 Cri-du-chat is French for the cry of the cat. This syndrome affects between 1 in 20,000 and 1 in 50,000 babies. It is more common to spot on females with the ratio 4:3. #2 In 80% of the cases, the chromosome carrying the deletion is inherited from the father’s sperm rather than the mother’s egg.
The identification of phenotypic subsets associated with a specific size and type of deletion is of diagnostic and prognostic relevance. Specific growth and psychomotor development charts have been established. Two genes, Semaphorin F ( SEMAF) and δ-catenin ( CTNND2), which have been mapped to the 'critical regions', are potentially involved in cerebral development and their deletion may be associated with mental retardation in CdCS patients. Deletion of the telomerase reverse transcriptase ( hTERT) gene, localised to 5p15.33, could contribute to the phenotypic changes in CdCS. The critical regions were recently refined by using array comparative genomic hybridisation. The cat-like cry critical region was further narrowed using quantitative polymerase chain reaction (PCR) and three candidate genes were characterised in this region.
The diagnosis is based on typical clinical manifestations. Karyotype analysis and, in doubtful cases, FISH analysis will confirm the diagnosis. There is no specific therapy for CdCS but early rehabilitative and educational interventions improve the prognosis and considerable progress has been made in the social adjustment of CdCS patients. Definition Cri du Chat Syndrome (CdCS) is a genetic disease resulting from a deletion of the short arm of chromosome 5 (5p-). Its clinical and cytogenetic aspects were first described by Lejeune et al. The most important clinical features are a high-pitched cat-like cry (hence the name of the syndrome), distinct facial dysmorphism, microcephaly and severe psychomotor and mental retardation. The size of the deletion ranges from the entire short arm to the region 5p15 [].
Simmons et al. Reported a deletion size ranging from 5 to 40 Mb []. Clinical description The clinical features at birth are low weight (mean weight 2614 g), microcephaly (mean head circumference 31.8 cm), round face (83.5%), large nasal bridge (87.2%), hypertelorism (81.4%), epicanthal folds (90.2%), downward slanting palpebral fissures (56.9%), down-turned corners of the mouth (81.0%), low-set ears (69.8%), micrognathia (96,7%), abnormal dermatoglyphics (transverse flexion creases) (92%) and the typical cry (95.9%) [,,-] (percentages from the Italian CdCS Registry []) (Fig. Neonatal problems are asphyxia, cyanotic crises, impaired suction and hypotonia. Severe psychomotor retardation becomes evident during the first year of life. Malformations, although not very frequent, may be present: cardiac, neurological and renal abnormalities, preauricular tags, syndactyly, hypospadias, and cryptorchidism.
Recurrent respiratory and intestinal infections are reported during the first years of life, although higher sensibility to infections is not reported []. Clinical features of a patient with Cri du Chat syndrome at age of 8 months (A), 2 years (B), 4 years (C) and 9 years 6/12 (D). The characteristic cat-like cry is probably due to anomalies of the larynx (small, narrow, diamond-shaped) and of the epiglottis (flabby, small, hypotonic), as well as to neurological, structural and functional alterations []. Malformations of the cranial base suggest associated anomalies of the brain (rhombencephalic region) and larynx during embryonal development []. Specific growth charts for CdCS, based on a multicentre study carried out on 374 patients from the United States, Italy, the United Kingdom and Australia, confirmed the existence of prenatal and postnatal growth retardation []. For all ages, median head circumference and weight are near or below the 2 nd and 5 th percentile, respectively. Height is less affected than weight from birth up to 2 years of age in both sexes.
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