Sexual Developmental Disorders in Pediatrics.

Abstract: Disorders of sex development (DSD) are a heterogeneous group of pathologies that result in an alteration in sex determination or differentiation. DSD are estimated to affect 1: 4,500 newborns and according to the 2006 Chicago Consensus classification, DSD can be divided into three categories: those with a 46 XX karyotype, those with a 46 XY karyotype and those relating to sex chromosomes. It is crucial to correctly identify the pathology already in the first days of life to direct the patient and his family to the best path of care. For this reason, the role of the pediatrician is fundamental in the correct identification of the clinical picture and in supporting the family during the long process that involves the management of these patients. To make a diagnosis, it is necessary to follow a path led by a multidisciplinary team that includes several steps such as the execution of the genetic analysis, the evaluation with diagnostic imaging methods and laboratory evaluations. The therapeutic management, on the other hand, is still very complex even if in recent years we have moved from an attitude of early gender reassignment to an approach of watchful waiting to let the patient choose when she/he is mature enough to do so, which gender she/he feels to belong. It should not be forgotten that throughout this process the pediatrician must be both supportive and clinically active in the management of the child and his family.

Challenges for Midwives' Healthcare Practice in the Next Decade: COVID-19 - Global Climate Changes - Aging and Pregnancy - Gestational Alcohol Abuse.

Midwives are multifaceted healthcare professionals whose competence spectrum includes a large variety of knowledge and skills going from antenatal care to education and research. The aim of this review is to suggest the future challenges midwives are going to face in the upcoming decade of this Century. COVID-19 and other infections will reasonably impact healthcare workers all over the world. Midwives are frontline healthcare professionals who are constantly at risk of contagion as their job implies close contact with women, physical support and hand touch. Also, menstruation waste plays a large role in the pollution of waters, severely impacting hygiene in the developing countries and fueling climate change. Appropriate disposal of used menstrual material is still insufficient in many countries of the world especially because of lack of sanitary education on girls. As educators, midwives will be more involved into preventing inappropriate disposal of menstrual hygiene devices by educating girls around the world about the green alternatives to the commercial ones. Despite the evidences about the fertility decrement that occurs with aging, women keep postponing reproduction and increasing their chance being childless or suffering complications related to the advanced maternal age. Teen pregnancies are as well an important issue for midwives who will be called to face more age-related issues and use a tailored case to case approach, enhancing their family planning skills. Another crucial role of midwifery regards the information about the risk of drinking alcohol during gestation. Alcohol assumption during pregnancy is responsible for serious damage to the fetus causing a wide range of pathological conditions related to Fetal Alcoholic Spectrum Disorder, leading cause of mental retardation in children of western countries. On the whole, midwives have demonstrated their willingness to expand their practice through continuing professional development, and through specialist and advanced roles especially in preventive and educational positions.

Physiological Responses to Induced Stress in Individuals Affected by Alcohol Use Disorder with Dual Diagnosis and Alexithymia.

Alcohol use disorders (AUD) are among the most common and undertreated mental disorders in developed countries. The co-occurrence of psychiatric comorbidity and AUD has already been well documented. Moreover, alexithymia was found associated with heavy drinking and alcohol dependence. A large part of AUD individuals, between 45 and 67%, have been identified as alexithymics. Both psychiatric comorbidity and alexithymia can negatively impact the course of recovery from alcohol. Alcohol consumption has also been shown to significantly influence autonomic responses. Chronic use of alcohol may induce significant changes in heart rate variability, respiratory frequency, electrodermal activity and skin temperature. To date, only a few studies have comprehensively investigated the comorbidity of alexithymia in AUD individuals with dual diagnosis. Thus, the aim and also the novelty of the present investigation were to disclose in individuals with AUD the emotional and cognitive stress responses to selected physiological parameters measured by ProComp5 Infiniti™ encoder in AUD patients suffering alexithymia with or without concomitant dual diagnosis. Quite interestingly, in AUD subjects with concomitant dual diagnosis we found that the alexithymia elevated skin temperature, heart rate variability and decreased respiratory frequency. Alexithymia, if associated with the dual diagnosis condition in AUD individuals, can be considered as a further vulnerability factor to stressing factors, impacting psychosomatic processing and inducing alterations in physiological parameters. In this paper, we discuss the implications of these findings in the early treatment of alexithymic AUD individuals.

Does cystic fibrosis neonatal screening detect atypical CF forms? Extended genetic characterization and 4-year clinical follow-up.

The neonatal screening protocol for cystic fibrosis (CF) is based on a first determination of blood immunoreactive trypsin (IRT1), followed by a first level genetic test that includes the 31 worldwide most common mutations of the cystic fibrosis transmembrane conductance regulator (CFTR) gene (DNA31), and a second determination of blood immunoreactive trypsin (IRT2). This approach identifies, in addition to affected subjects, a high proportion of newborns with hypertrypsinaemia at birth, in whom only one mutation is identified and who have a negative or borderline sweat test and pancreatic sufficiency. Although it has been suggested that hypertrypsinaemia may be caused by a single CFTR mutation, whether such neonates should be merely considered as healthy carriers remains a matter of debate as hypertrypsinaemia at birth may be a biochemical marker of a CFTR malfunction because of a second mild mutation. We analyzed, by means of an extended sequencing protocol, 32 newborns who tested positive at an IRT1/DNA31/IRT2 screening protocol and in whom only one CFTR mutation was found. The results obtained demonstrate that 62.5% of these newborns were also carrying a second mild CFTR mutation. The high proportion of compound heterozygous subjects, combined with the results of a 4-year follow-up in nine of these subjects all of whom displaying initial CF clinical symptoms, suggest that it may be possible to use the IRT1/DNA31/IRT2 protocol of neonatal screening to identify newborns with atypical forms of CF. In view of these findings, an extended genetic search for subjects with compound heterozygosity and a periodic clinical assessment should be considered.

Inhibitory effect of somatostatin on neutral amino acid transport in isolated brain microvessels.

In the presence of somatostatin-14 or some of its receptorial agonists, the uptake of large neutral amino acids by isolated brain microvessels was found to be inhibited up to 50%, no other transport system being affected. Although the luminal and abluminal sides of brain endothelial cells are both capable of taking up large neutral amino acids, only uptake from the abluminal side appears to be inhibited by somatostatin. The involvement of a type-2 somatostatin receptor was suggested by assays with a series of receptor-specific somatostatin agonists, and was confirmed by the release of inhibition caused by a specific type-2 receptor antagonist. A type-2-specific mRNA was indeed shown to be present in both bovine brain microvessels ex vivo and primary cultures of endothelial cells from rat brain microvessels.