EBS in Children with De Novo Pathogenic Variants Disturbing Krt14.

Epidermolysis bullosa simplex (EBS) is a dermatological condition marked by skin fragility and blister formation resulting from separation within the basal layer of the epidermis, which can be attributed to various genetic etiologies. This study presents three pathogenic de novo variants in young children, with clinical manifestations appearing as early as the neonatal period. The variants contribute to the EBS phenotype through two distinct mechanisms: direct keratin abnormalities due to pathogenic variants in the Krt14 gene, and indirect effects via pathogenic mutation in the KLHL24 gene, which interfere with the natural proteasome-mediated degradation pathway of KRT14. We report one severe case of EBS with mottled pigmentation arising from the Met119Thr pathogenic variant in KRT14, another case involving a pathogenic KLHL24 Met1Val variant, and a third case featuring the hot spot mutation Arg125His in KRT14, all manifesting within the first few weeks of life. This research underscores the complexity of genetic influences in EBS and highlights the importance of early genetic screening for accurate diagnosis and management.

Recommendations from a European Roundtable Meeting on Best Practice Healthy Infant Skin Care.

BACKGROUND: European roundtable meeting recommendations on bathing and cleansing of infants were published in 2009; a second meeting was held to update and expand these recommendations in light of new evidence and the continued need to address uncertainty surrounding this aspect of routine care. METHODS: The previous roundtable recommendations concerning infant cleansing, bathing, and use of liquid cleansers were critically reviewed and updated and the quality of evidence was evaluated using the Grading of Recommendation Assessment, Development and Evaluation system. New recommendations were developed to provide guidance on diaper care and the use of emollients. A series of recommendations was formulated to characterize the attributes of ideal liquid cleansers, wipes, and emollients. RESULTS: Newborn bathing can be performed without harming the infant, provided basic safety procedures are followed. Water alone or appropriately designed liquid cleansers can be used during bathing without impairing the skin maturation process. The diaper area should be kept clean and dry; from birth, the diaper area may be gently cleansed with cotton balls/squares and water or by using appropriately designed wipes. Appropriately formulated emollients can be used to maintain and enhance skin barrier function. Appropriately formulated baby oils can be applied for physiologic (transitory) skin dryness and in small quantities to the bath. Baby products that are left on should be formulated to buffer and maintain babies' skin surface at approximately pH 5.5, and the formulations and their constituent ingredients should have undergone an extensive program of safety testing. Formulations should be effectively preserved; products containing harsh surfactants, such as sodium lauryl sulfate, should be avoided. CONCLUSION: Health care professionals can use these recommendations as the basis of their advice to parents.

[Transient hyperinsulinism in neonates].

Congenital hyperinsulinusm is rare disease characterized high secretion of insulin by pancreatic beta cells leading to the development of hypoglycemia. Persistent and transient forms of hyperinsulinism are distinguished. Transient hyperinsulinism are the most common cause of severe hypoglycemia in newborns. The etiology of this disease is not known. There are risk factors for the development of transient hyperinsulinism: asphyxia at birth, prematurity, maternal diabetes, low or large weight by gestation. Hypoglycemia with hyperinsulinism is severe. Therefore, early diagnosis and therapy especially during the neonatal period, are necessary.The article describes 3 clinical cases of transient hyperinsulinism in children with different gestational age and concomitant pathology. All children recevied insulinostatic therapy with diazoxide with a positive effect: euglycemia without glucose requirement . In all children, therapy was completed subsequently. At the time of publication of the article, the physical and psychomotor development of children is normal.

Hyperbilirubinemia guideline adherence in Russia illustrates universal challenges.

Guidelines for management of newborn hyperbilirubinemia have existed in Russia for many years. We sought to determine the degree to which management of hyperbilirubinemia in Russia meets three existing clinical protocols. We performed a cross-sectional chart review in a government-run, academic hospital in an urban setting in Moscow, Russia. Subjects were admitted to Level II nursery at Hospital No.13, were not transferred to a Level III nursery, did not die during hospitalization, and had at least one pairing of total serum bilirubin (TSB) and clinical evaluation of jaundice. We measured physician adherence to three available guidelines based upon TSB levels at which phototherapy and exchange transfusions were performed. We identified 594 infants and 1,924 pairings. Despite availability of TSB to inform decision-making, physicians did not follow the protocols. Under Russian and U.S. guidelines, physicians often failed to start phototherapy, started phototherapy unnecessarily, and missed recommended exchange transfusions. Despite a resource-poor setting, guideline adherence in Russia was remarkably similar to that of U.S. physicians. The data illustrate the challenge of overcoming physician behavior to standardize practice, and raise questions about the presumed higher quality of care in a more developed medical system. A new framework for guideline implementation is needed, and many of the necessary tools already exist.

Monitoring the Postnatal Growth of Preterm Infants: A Paradigm Change.

There is no consensus regarding how the growth of preterm infants should be monitored or what constitutes their ideal pattern of growth, especially after term-corrected age. The concept that the growth of preterm infants should match that of healthy fetuses is not substantiated by data and, in practice, is seldom attained, particularly for very preterm infants. Hence, by hospital discharge, many preterm infants are classified as postnatal growth-restricted. In a recent systematic review, 61 longitudinal reference charts were identified, most with considerable limitations in the quality of gestational age estimation, anthropometric measures, feeding regimens, and how morbidities were described. We suggest that the correct comparator for assessing the growth of preterm infants, especially those who are moderately or late preterm, is a cohort of preterm newborns (not fetuses or term infants) with an uncomplicated intrauterine life and low neonatal and infant morbidity. Such growth monitoring should be comprehensive, as recommended for term infants, and should include assessments of postnatal length, head circumference, weight/length ratio, and, if possible, fat and fat-free mass. Preterm postnatal growth standards meeting these criteria are now available and may be used to assess preterm infants until 64 weeks' postmenstrual age (6 months' corrected age), the time at which they overlap, without the need for any adjustment, with the World Health Organization Child Growth Standards for term newborns. Despite remaining nutritional gaps, 90% of preterm newborns (ie, moderate to late preterm infants) can be monitored by using the International Fetal and Newborn Growth Consortium for the 21st Century Preterm Postnatal Growth Standards from birth until life at home.

Quality of hospital care for children in Kazakhstan, Republic of Moldova, and Russia: systematic observational assessment.

BACKGROUND: Major concerns about the quality of basic hospital care for children have been raised in developing countries, but no formal assessment applying international standards has been done in the Commonwealth of Independent States. METHODS: We assessed 17 hospitals in Kazakhstan, the Republic of Moldova, and the Russian Federation with a generic WHO hospital assessment framework adapted for use in the WHO European region. WHO management guidelines for paediatric care in peripheral hospitals were used as standards. FINDINGS: Hospital access for children was generally good. Good health networks existed, and skilled and committed doctors cared for children. Case-fatality rates were low. However, unnecessary and lengthy hospital stays were common, and most children received excessive and ineffective treatment (in one country median number of drugs prescribed concurrently was 5, IQR 2-6). Several conditions were systematically overdiagnosed, especially neurological disease, or overinvestigated, such as acute diarrhoea. Reasons for these practices included absence of clear evidence-based clinical guidelines, regulations tying duration of admission to financial reimbursement, generalisation of disease-control methods from rare problems to common illnesses, and regulations maintaining financial and professional status of some subspecialties. Many disincentives to efficient practice existed. INTERPRETATION: To improve quality of hospital care for children in the Commonwealth of Independent States, several issues must be addressed, including: adoption of international guidelines for inpatient management; complementary guidelines for outpatient management; reforms to health regulations governing admission and discharge criteria; improvement of quality of training, availability of medical information, and systems to promote and certify quality of care.