Pallister–Killian Syndrome versus Trisomy 12p—A Clinical Study of 5 New Cases and a Literature Review

Pallister–Killian syndrome (PKS) is a rare, sporadic disorder defined by a characteristic dysmorphic face, pigmentary skin anomalies, intellectual disability, hypotonia, and seizures caused by 12p tetrasomy due to an extra isochromosome 12p. We present three cases of PKS and two cases of trisomy 12p to illustrate and discuss features rarely cited in the literature, present certain particularities that not yet been cited, and analyze the differences between entities. Moreover, we present alternative methods of diagnosis that could be easily used in daily practice. Features not yet or rarely reported in PKS literature include marked excess of hair on the forehead and ears in the first months of life, a particular eye disorder (abnormal iris color with pointed pupil), connective tissue defects, repeated episodes of infection and autonomic dysfunction, endocrine malfunction as a possible cause of postnatal growth deficit, more complex sensory impairments, and mild early myoclonic jerks. After performing different combinations of tests, we conclude that MLPA (follow-up kit P230-B1) or array CGH using DNA extracted from a buccal swab is a reliable method of diagnosis in PKS and we recommend either one as a first intention diagnostic test. In cases without major defects associated (suspicion trisomy 12p), subtelomeric MLPA should be performed first.

FOXG1 Gene and Its Related Phenotypes

FOXG1 is an important transcriptional repressor found in cell precursor of the ventricular region and in neurons in the early stage of differentiation during the development of the nervous epithelium in the cerebrum and optical formation. Mutations involving FOXG1 gene have been described first in subjects with congenital Rett syndrome. They can cause seizure, delayed psychomotor development, language disorders, and autism. FOXG1 deletions or intragenic mutations also determinate reduction in head circumference, structural defects in the corpus callosum, abnormal movements, especially choreiform, and intellectual retardation with no speech. Patients with duplications of 14q12 present infantile spasms and have subsequent intellectual disability with autistic features, head circumference in the normal range, and regular aspect of corpus callosum. Clinical characteristics of patients with FOXG1 variants include growth deficit after birth associated with microcephaly, facial dysmorphisms, important delay with no language, deficit in social interaction like autism, sleep disorders, stereotypes, including dyskinesia, and seizures. In these patients, it is not characteristic a history of loss of acquired skills.

Nutrition of the patient with cystic fibrosis in the context of multidisciplinary care

The careful monitoring of nutritional status is crucial for pa­tients with cystic fibrosis (CF). As part of routine CF care, the measure­ment of weight and height (and calculation of weight/length or of Body Mass Index – as appropriate) should be carried out and analyzed at every medical visit. The early recognition of nutritional risk factors is im­pe­ra­tive, as well as the evaluation of the patient’s condition by a mul­ti­dis­ci­pli­nary team in order to identify the caloric intake, the risk of malabsorption and other risk factors for growth deficit. Along with the usual tools of nutritional intervention to improve the nutritional status of patients with CF, oral sup­ple­men­ta­tion, interventions to correct eating disorders, ap­petite suppressant supplements/medication and enteral nu­tri­tion are also included.

Crop Growth Monitoring with Drone-Borne DInSAR

Accurate, high-resolution maps of for crop growth monitoring are strongly needed by precision agriculture. The information source for such maps has been supplied by satellite-borne radars and optical sensors, and airborne and drone-borne optical sensors. This article presents a novel methodology for obtaining growth deficit maps with an accuracy down to 5 cm and a spatial resolution of 1 m, using differential synthetic aperture radar interferometry (DInSAR). Results are presented with measurements of a drone-borne DInSAR operating in three bands—P, L and C. The decorrelation time of L-band for coffee, sugar cane and corn, and the feasibility for growth deficit maps generation are discussed. A model is presented for evaluating the growth deficit of a corn crop in L-band, starting with 50 cm height. This work shows that the drone-borne DInSAR has potential as a complementary tool for precision agriculture.

The premature newborn

Infants born at 24 weeks’ gestation now have a 40% chance of survival, rising to 80% at 26 weeks. Many have difficulty tolerating enteral feeds because of gastrointestinal immaturity; during this time parenteral nutrition is commonly given. Undernutrition in the early weeks of life may have lasting effects on developmental outcomes and increase the risk of certain chronic diseases in adult life (e.g. hypertension, cardiovascular disease, diabetes). Breast milk appears to confer some protection against necrotizing enterocolitis and be good for brain development. There has been a resurgence of investment in milk banks so that donor milk from nursing mothers in the community can be processed and given to preterm infants whose mothers cannot provide sufficient milk of their own. When breast milk is unavailable, preterm formula should be used, and following discharge from hospital (when many infants are showing a growth deficit), a nutrient-enriched formula can be given.

Maternal smoking during pregnancy and early development of overweight and growth deficit in children: an analysis of survival

Objectives: to evaluate the association between smoking during pregnancy and nutritional status. Methods: cohort study with a sample of 460 children in the baseline. The children were assessed four times, being measured for weight and length to be converted in indexes length forage (L/A) and body mass index forage (BMI/A) in Z-score. The time until occurrence of growth deficit and overweight was calculated in days and compared to maternal smoking during pregnancy. To assess the association between smoking during pregnancy and the outcomes, a Hazard Ratio by Cox regression was obtained, adjusting by confounding variables selected from Directed Acyclic Graphs (DAG). Results: the time until occurrence of growth deficit and overweight was lower in children whose mothers smoked during pregnancy. Smoking during pregnancy was a risk factor for length deficit (HR = 2.84; CI95% = 1.42 to 5.70) and for overweight (HR = 1.96; CI95% = 1, 09 to 3.53), even after the adjustment. Conclusions: maternal smoking was a changeable factor associated with anthropometric outcomes, which demonstrates the need for actions to combat smoking during pregnancy in order to prevent early nutritional deviations.