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Langley Bauer posted an update 6 months ago
Five (15%) had allergic disorders. Three patients (9%) developed malignancy. The PID diagnoses were combined immunodeficiency, common variable immunodeficiency, chronic granulomatous disease, adenosine deaminase deficiency, and congenital neutropenia.
Genetic disorders, autoimmune/inflammatory, and allergic diseases may accompany sIgMD. Approximately 25% of the patients were asymptomatic in our series. Patients had increased malignancy risk. We diagnosed about 25% of the patients having low IgM with a specific PID in the follow-up period. Thus, patients with sIgMD should be followed up regularly in immunology clinics.
Genetic disorders, autoimmune/inflammatory, and allergic diseases may accompany sIgMD. Approximately 25% of the patients were asymptomatic in our series. Patients had increased malignancy risk. We diagnosed about 25% of the patients having low IgM with a specific PID in the follow-up period. Thus, patients with sIgMD should be followed up regularly in immunology clinics.
This study was aimed to evaluate motor tracts integrity in nondisabled preterm-born (PT) children at 9 years of age.
Overall, 18 PT and 13 term-born (T) children without motor disability were assessed by transcranial magnetic stimulation (TMS). Motor-evoked potentials (MEPs) were measured bilaterally from the abductor pollicis brevis (APB) and the tibialis anterior (TA) muscles. Muscle responses could be stimulated from all patients.
Overall, 83.3 and 23.1% of PT and T children, respectively, had mild clumsiness (
= 0.001). One PT and three T children had immediate bilateral responses in the upper extremities. Seven PT children had delayed ipsilateral APB responses after left and ten after right TMS. Three controls had delayed ipsilateral responses. Ipsilateral lower extremity responses were seen in one PT after right and two PT children and one T child after left TMS. The results did not correlate to groups, genders, clumsiness, or handedness.
Children of PT and T may have bilateral motor responses after TMS at 9 years of age. Ipsilateral conduction emerges immediately or more often slightly delayed and more frequently in upper than in lower extremities.
Bilateral motor conduction reflects developmental and neurophysiological variability in children at 9 years of age. MEPs can be used as a measure of corticospinal tract integrity in PT children.
Bilateral motor conduction reflects developmental and neurophysiological variability in children at 9 years of age. MEPs can be used as a measure of corticospinal tract integrity in PT children.
Activin A protein and its receptor ACVR2B have been considered viable biomarkers for the diagnosis of hypoxic-ischemic encephalopathy (HIE). This study aimed to assess umbilical cord blood (UCB) levels of Activin A and
messenger RNA (mRNA) as early biomarkers of mild and moderate HIE and long-term neurodevelopmental outcome.
One-hundred and twenty-six infants were included in the analyses from the BiHiVE2 cohort, a multi-center study, recruited in Ireland and Sweden (2013 to 2015). UCB serum Activin A and whole blood
mRNA were measured using enzyme-linked immunosorbent assay and quantitative polymerase chain reaction, respectively.
Activin A analysis included 101 infants (controls,
= 50, perinatal asphyxia,
= 28, HIE,
= 23). No differences were detected across groups (
= 0.69). No differences were detected across HIE grades (
= 0.12).
mRNA analysis included 67 infants (controls,
= 22, perinatal asphyxia,
= 23, and HIE,
= 22), and no differences were observed across groups (
= 0.75). No differences were detected across HIE grades (
= 0.58). No differences were detected in neurodevelopmental outcome in infants followed up to 18 to 36 months in serum Activin A or in whole blood
mRNA (
= 0.55 and
= 0.90, respectively).
UCB Activin A and
mRNA are not valid biomarkers of infants with mild or moderate HIE; they are unable to distinguish infants with HIE or infants with poor neurodevelopmental outcomes.
UCB Activin A and Acvr2b mRNA are not valid biomarkers of infants with mild or moderate HIE; they are unable to distinguish infants with HIE or infants with poor neurodevelopmental outcomes.
The diagnostic workup in patients with delayed motor milestones suspected of having either myopathy or a congenital myasthenic syndrome is complex. Our hypothesis was that performance of a muscle biopsy and neurophysiology including stimulated single-fiber electromyography during an anesthetic procedure, combined with genetic testing has a high diagnostic quality.
Clinical and paraclinical data were retrospectively collected from 24 patients aged from 1 month to 10 years (median 5.2 years).
Neurophysiology examination was performed in all patients and was abnormal in 11 of 24. No patients had findings suggestive of a myasthenic syndrome. Muscle biopsy was performed in 21 of 24 and was normal in 16. Diagnostic findings included nemaline rods, inclusion bodies, fiber size variability, and type-II fiber atrophy. Genetic testing with either a gene panel or exome sequencing was performed in 18 of 24 patients, with pathogenic variants detected in
,
,
,
,
, and
genes.
Results supporting a neuromuscular abnormality were found in 15 of 24. Aurora Kinase inhibitor In six patients (25%), we confirmed a genetic diagnosis and 12 had a clinical neuromuscular diagnosis. The study suggests that combined use of neurophysiology and muscle biopsy in cases where genetic testing does not provide a diagnosis can be useful in children with delayed motor milestones and clinical evidence of a neuromuscular disease.
Results supporting a neuromuscular abnormality were found in 15 of 24. In six patients (25%), we confirmed a genetic diagnosis and 12 had a clinical neuromuscular diagnosis. The study suggests that combined use of neurophysiology and muscle biopsy in cases where genetic testing does not provide a diagnosis can be useful in children with delayed motor milestones and clinical evidence of a neuromuscular disease.
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