Collisions of Au on Au at incident energies of 150, 250 and 400
A·MeV were studied with the FOPI-facility at GSI Darmstadt. Nuclear charge (
Z ⩽ 15) and velocity of the products were detected with ...full azimuthal acceptance at laboratory angles 1° ⩽
θlab ⩽ 30°. Isotope separated light charged particles were measured with movable multiple telescopes in an angular range of 6–90°. Central collisions representing about 1% of the reaction cross section were selected by requiring high total transverse energy, but vanishing side flow. The velocity space distributions and yields of the emitted fragments are reported. the data are analysed in terms of a thermal model including radial flow. A comparison with predictions of the quantum molecular model is presented.
To characterize the clinical profile, comorbidity and aggravating factors, and outcomes, a consecutive series of 34 French children and adolescents with chronic daily headache was studied. Of 206 ...referred over an inclusive interval of 2 years for the evaluation of headaches, 34 merited a diagnosis of chronic daily headache, which was defined as persistent or daily headaches of at least 3 months in duration. The overwhelming majority were female (61.8%), with a mean age at diagnosis of 10.5 ± 3.1 years (range, 2.9-14.8 years). According to the Silberstein-Lipton criteria, transformed migraine was the etiology in 61.8%, whereas according to the second edition of the International Classification of Headache Disorders, chronic migraine accounted for 50% of cases. Stressors were recognized in 82%. Analgesic abuse was evident in 52.9%. Of the 29 for whom follow-up information was available, headaches resolved or greatly improved in 93.1%. Children and adolescents with chronic daily headache are thus a small subset of children with headache seen in general ambulatory practice. They tend to be girls in the midteen years experiencing a transformed migraine complicated by analgesic abuse, suggesting potential preventability. Simple measures, which can include reassurance and analgesia education, can be expected to result in improvement and eventual resolution of headache symptoms.
Over the last few years, array-comparative genomic hybridisation (CGH) has considerably improved our ability to detect cryptic unbalanced rearrangements in patients with syndromic mental retardation.
...Molecular karyotyping of six patients with syndromic mental retardation was carried out using whole-genome oligonucleotide array-CGH.
5q14.3 microdeletions ranging from 216 kb to 8.8 Mb were detected in five unrelated patients with the following phenotypic similarities: severe mental retardation with absent speech, hypotonia and stereotypic movements. Facial dysmorphic features, epilepsy and/or cerebral malformations were also present in most of these patients. The minimal common deleted region of these 5q14 microdeletions encompassed only MEF2C, the gene for a protein known to act in brain as a neurogenesis effector, which regulates excitatory synapse number. In a patient with a similar phenotype, an MEF2C nonsense mutation was subsequently identified.
Taken together, these results strongly suggest that haploinsufficiency of MEF2C is responsible for severe mental retardation with stereotypic movements, seizures and/or cerebral malformations.
We have recently shown that de novo mutations in the TUBA1A gene are responsible for a wide spectrum of neuronal migration disorders. To better define the range of these abnormalities, we searched ...for additional mutations in a cohort of 100 patients with lissencephaly spectrum for whom no mutation was identified in DCX, LIS1 and ARX genes and compared these data to five previously described patients with TUBA1A mutations.
We detected de novo TUBA1A mutations in six patients and highlight the existence of a prominent form of TUBA1A related lissencephaly. In four patients, the mutations identified, c.1190T>C (p.L397P), c.1265G>A (p.R422H), c.1264C>T (p.R422C), c.1306G>T (p.G436R), have not been reported before and in two others, the mutation corresponds to a recurrent missense mutation, c.790C>T (p.R264C), likely to be a hot spot of mutation. All together, it emerges that the TUBA1A related lissencephaly spectrum ranges from perisylvian pachygyria, in the less severe form, to posteriorly predominant pachygyria in the most severe, associated with dysgenesis of the anterior limb of the internal capsule and mild to severe cerebellar hypoplasia. When compared with a large series of lissencephaly of other origins (ILS17, ILSX or unknown origin), these features appear to be specific to TUBA1A related lissencephaly. In addition, TUBA1A mutated patients share a common clinical phenotype that consists of congenital microcephaly, mental retardation and diplegia/tetraplegia.
Our data highlight the presence of consistent and specific abnormalities that should allow the differentiation of TUBA1A related lissencephalies from those related to LIS1, DCX and ARX genes.
Neurodevelopmental disorder account for 30 to 60% of patients requiring cardiac surgery for congenital heart disease. Surgery before the age of one is a major risk factor of neurodevelopmental ...disorder.
In 2017, The AEPC Psychosocial Working Group produced a consensus for a structured follow-up screening, but the specific modalities are depending on local resources and availability.
In October 2020, Lille University Hospital has launched a pediatric cardiac surgery program (KidsHearts) with a systematic neurodevelopmental follow-up program for infants requiring cardiac surgery before the age of one. This program actually includes: a clinical evaluation by a neurologist the day before surgery and before hospital discharge with a specific neurodevelopmental care pathway divided in 3 categories: pathway A, B or C depending on several factors (type of congenital heart disease, associated genetic disorder, operative or postoperative complications, electroencephalogram or magnetic resonance imaging anomalies.
Between October 2020 and May 2022, 64 infants (300 164–454 days) were included in this specific neurodevelopmental disorder screening. Fourteen patients (22%) had genetic disorder. Thirty patients had curative surgery, 19 palliative cardiac surgery, 4 balloon aortic valvuloplasty, 11 were not yet operated. Eighteen patients were assigned to pathway A (general pediatrician follow-up with parental neurodevelopmental questionnaire at key ages). Twenty-six children were assigned to pathway C (specific follow-up in medico psychosocial centers for children with disability requiring special treatments like a speech therapist, psychomotor therapist…). Six children were assigned to pathway B (neurologic systematic reevaluation 3 months after surgery before reassignment to pathway A or C). In total, 100% of parental questionnaires ASQ (ages and stages questionnaires) for neurodevelopmental follow-up were gathered at 6 months in pathway A and B, but only 64% in pathway C; 100% of 12 months ASQ were gathered in pathway A and B but only 82% in pathway C.
This specific screening for neurodevelopmental disorder program allows to identify fragile infants needing specific follow-up. Efforts still remain to be done in getting back the ASQ questionnaires in order not to lose any patients during follow-up.
The pathophysiology of alternating hemiplegia of childhood (AHC) is unclear. The authors evaluated the skin and muscle biopsies from patients with AHC for vascular abnormalities.
Skin biopsy ...specimens from four patients ages 18 months, 8 years, 9 years, and 18 years and muscle biopsies from two of these patients were examined by electron microscopy and compared with healthy controls.
Vascular abnormalities were found in both skin and muscle. Skin biopsies showed similar abnormalities in all four patients. Vacuoles were visible in the endothelium. The most striking abnormality was the presence in the tunica media of small and unevenly shaped vascular smooth muscle cells (VSMCs) containing intracytoplasmic vacuoles and, occasionally, apoptotic nuclei, with variations according to patient age. Moreover, most VSMCs had lost junctions with neighboring cells, and some were completely isolated. In vessels from muscle biopsies, the VSMCs showed vacuoles, residual osmiophilic deposits, and myofilament loss with substitution by vacuoles.
The vascular abnormalities in our patients suggest a primary or secondary vascular pathophysiology to alternating hemiplegia of childhood. The vascular smooth muscle cells may be the initial target of the disease process.
Characteristics of tuberous sclerosis in children Riquet, A; Cuisset, J-M; Cuvellier, J-C ...
Archives de pédiatrie : organe officiel de la Société française de pédiatrie
17, Številka:
9
Journal Article
Recenzirano
Tuberous sclerosis complex is a genetic multisystem disease characterized by hamartic development of many organs, most notably the brain, heart, kidneys, lungs, and skin. This autosomic dominant ...disorder results from mutations in one of two genes, TSC1 and TSC2, coding for hamartin and tuberin, respectively. The hamartin-tuberin complex inhibits the mammalian target of rapamycin pathway, which controls cell growth and proliferation. The clinical presentation is highly variable and most features of tuberous sclerosis become evident only in childhood after the child is several years of age, limiting their usefulness for early diagnosis. The aim of this article is to define the pediatric clinical manifestations of tuberous sclerosis in correlation with patient age. Sometimes, a prenatal diagnosis can be made based on fetal ultrasound and MRI, which show cardiac and brain lesions. However, newborns are most often asymptomatic. In the 1st year, seizures are the most common symptoms, with a high incidence of infantile spasms. In children between 2 and 10 years of age, neurological symptoms are the most frequent with epilepsy, mental retardation, and autism, but extraneurological manifestations can be diagnosed. In adolescents, most features of tuberous sclerosis become evident and renal and pulmonary manifestations must be sought. The knowledge of age-dependent clinical features of tuberous sclerosis can provide an earlier diagnosis and improve the management of these patients with a special role for multidisciplinary consultation.
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