Search results for "Floppy Infant"

showing 2 items of 2 documents

Infantile intranuclear rod myopathy.

1997

This report concerns three unrelated floppy infants, two girls and one boy, each biopsied at the age of 1 month. They were hypotonic since birth and required artificial ventilation. The two girls died at the ages of 4 and 3½ months, respectively, the boy is still alive at the age of 2 years, but requires assisted ventilation. Each of the three infants showed, by muscle biopsy, abundant intranuclear rods, the boy and one girl also had sarcoplasmic rods, which were not present in the other girl's muscle. Absence of sarcoplasmic rods, but the presence of intranuclear rods could also be documented in her autopsied muscle. Using an antibody against α-actinin, immunoelectron microscopy showed re…

Artificial ventilationMalePediatricsmedicine.medical_specialtygenetic structuresmedicine.medical_treatmentBiopsyMyosinsMyopathies Nemaline03 medical and health sciences0302 clinical medicineFatal Outcome030225 pediatricsmedicineHumansEndotheliumFloppy InfantMicroscopy ImmunoelectronMuscle SkeletalCell Nucleusbusiness.industryInfant NewbornPediatrics Perinatology and Child HealthFemalesense organsNeurology (clinical)Intranuclear Rod Myopathybusiness030217 neurology & neurosurgeryJournal of child neurology
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Chest Radiograph as Diagnostic Clue in a Floppy Infant

2016

Chromosomes Human Pair 14Male0301 basic medicineThoraxmedicine.medical_specialtymedicine.diagnostic_testbusiness.industryInfant NewbornThoraxUniparental Disomy030105 genetics & heredityRespiration ArtificialInfant newbornKAGAMI-OGATA SYNDROMESurgery03 medical and health sciencesPediatrics Perinatology and Child HealthmedicineHumansMuscle HypotoniaAbnormalities MultipleRadiologyChest radiographFloppy InfantbusinessThe Journal of Pediatrics
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