Search results for "Infant"

Sturge-Weber syndrome: a report of 14 cases

2013

Sturge-Weber-Krabe syndrome (SWS), also known as encephalotrigeminalangiomatosis and named the forthfacomatosis, recall the names of the authors who first describedit in its basic clinical, radiological andanatomopathological aspects. We report here 14 cases of Sturge-Weber disease. In 6 of these, despite what had been previously described in literature, an extension of the angioma has been noted in other parts of the body. The study of these subjects stresses not only the need for a pharmacological/neuropsychomotor intervention, but alsothe need of a psychotherapeutic approach, for the emotional and affective implications thatcould derive from this syndrome. The reported cases are similar …

THERAPEUTIC EFFICACY OF MAGNESIUM VALPROATE IN SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY

2012

Succinic semialdehyde dehydrogenase deficiency (SSADHD or gammahydroxybutyric aciduria), a disorder of γ-aminobutyric acid (GABA) metabolism, manifests as a slowly progressive or static encephalopathy. The latter encompasses prominent cognitive dysfunction, neuropsychiatric morbidity and epilepsy.We report safe and effective treatment with MgVPA in an adolescent female with SSADHD and seizures refractory to a broad spectrum of antiepileptics. MgVPA therapy (20 mg/Kg/day) was introduced at 7 years based upon behavioural difficulties and EEG alterations without adverse effects. Therapy was halted at age 13 years, and reintroduced at 14 years, due to new onset complex partial seizures. EEG dem…

Painful procedures in the NICU

2012

The authors after a brief introduction on the development of the perception of pain in the fetus and newborn, focus attention on the problem of painful procedures that are performed in the neonatal intensive care units reported in the scientific literature. Then report the design of the double-blind study that is taking place from February 2012 at the NICU ARNAS Civic - Palermo using three different concentrations of sucrose as analgesia during venipuncture and heel puncture in term neonates.

Mapping 123 million neonatal, infant and child deaths between 2000 and 2017

2019

Since 2000, many countries have achieved considerable success in improving child survival, but localized progress remains unclear. To inform efforts towards United Nations Sustainable Development Goal 3.2—to end preventable child deaths by 2030—we need consistently estimated data at the subnational level regarding child mortality rates and trends. Here we quantified, for the period 2000–2017, the subnational variation in mortality rates and number of deaths of neonates, infants and children under 5 years of age within 99 low- and middle-income countries using a geostatistical survival model. We estimated that 32% of children under 5 in these countries lived in districts that had attained ra…

HNRNPR Variants that Impair Homeobox Gene Expression Drive Developmental Disorders in Humans

2019

The heterogeneous nuclear ribonucleoprotein (HNRNP) genes code for a set of RNA-binding proteins that function primarily in the spliceosome C complex. Pathogenic variants in these genes can drive neurodegeneration, through a mechanism involving excessive stress-granule formation, or developmental defects, through mechanisms that are not known. Here, we report four unrelated individuals who have truncating or missense variants in the same C-terminal region of hnRNPR and who have multisystem developmental defects including abnormalities of the brain and skeleton, dysmorphic facies, brachydactyly, seizures, and hypoplastic external genitalia. We further identified in the literature a fifth ind…

Problematiche etiche relative al trattamento sanitario obbligatorio.

2010

LA CHIRURGIA NEI PAZIENTI AFFETTI DA TUMORI A CELLULE GERMINALI MALIGNI (tgcm) TESTICOLARI: COMPLIANCE ALLE LINEE GUIDA CHIRURGICHE E RISULTATI DELLO…

2011

I tumori germinali maligni del testicolo rappresentano una evenienza rara. L'approccio chirurgico consiste nella orchiectomia radicale con eventuale esplorazione chirurgica dei linfonodi retroperitoneali doppo l'opportuna valutazione per imaging. vengono presentati i risultati di uno Studio Cooperativo Nazionale.

Ventricular paired pacing to control intractable junctional tachycardia following open heart surgery in a child.

1989

A 5-month-old girl presented postoperatively with an atrioventricular (A-V) junctional tachycardia at a rate of 245/min following surgical repair of tetralogy of Fallot. The systolic blood pressure dropped to 60 mmHg with this rapid heart rate, and the infant became shocked. Drugs and overdrive pacing were ineffective in suppressing the A-V junctional tachycardia and in improving cardiac output. Ventricular paired pacing was used successfully to halve the mechanically effective ventricular rate and to restore cardiac output. When ventricular paired pacing was stopped after 12 h, the spontaneous rhythm was an atrial rhythm with 1-1 A-V conduction. The patient was discharged in sinus rhythm o…

Children's acceptance of new foods at weaning. Role of practices of weaning and of food sensory properties

2011

International audience; Weaning (i.e. introduction of complementary foods) is a transitional process between the consumption of a unique food, milk, and family foods. This review of existing literature regarding factors favouring the development of food acceptance at the beginning of weaning underlines in particular the roles of repeated exposure, of introduction of a variety of foods, of timing of introduction of weaning foods, and of food sensory properties (texture, taste and flavours). All factors appear to play a role in the acceptance of weaning foods. The efficiency, most favourable windows and long-term impact of each of these factors is not known accurately.

Preferences for fat and basic tastes and in 3-, 6- and 12-month-old infants

2011

Fat perception received recent interest, but fat preference in human infants is a matter of debate. The objective here was to investigate fat and taste preferences in the same infants (N= 66) at 3, 6 and 12 months. Preference for a fat solution (sunflower and rapeseed oils mixed with soy lecithin) and for taste solutions (sweet, lactose; salty, NaCl; bitter, urea; sour, citric acid; umami, sodium glutamate) was evaluated. The same method was applied at each age. Mothers and their infant participated in 2 videotaped sessions, during which the 5 taste and fat solutions were assessed in a balanced order. For each taste, 4 bottles (water, tastant, tastant and water) were presented by the experi…