Evaluation of factors affecting total nucleated cells in umbilical cord blood collected for the Calabria cord blood bank.

BACKGROUND: Total nucleated cell (TNC) count is the most important biological feature to consider in assessing the quality of umbilical cord blood (UCB) for haematopoietic stem cell (HSC) transplantation. Certain obstetric factors have been reported to increase TNC count in UCB units collected for transplantation. The aim of our study was to analyze how various maternal, neonatal and obstetric factors affected TNC count in the UCBs we collected for our cord blood bank in southern Italy. MATERIAL AND METHODS: We performed a retrospective analysis of 634 medical records of UCBs collected by Calabria Cord Blood Bank (CCBB), between January 1, 2010 and December 31, 2016. We analyzed various maternal, neonatal and obstetric variables factors and related this factor with the characteristic of TNC. RESULTS: We found that the average number of TNCs was significantly greater in vaginal delivery than in caesarean delivery. We also found that TNCs were higher in the 40th week of pregnancy and when Apgar 1' scores were ≤ 9. The effect of a newborn's gender was less evident on TNC count. CONCLUSIONS: Knowledge of factors predictive of a higher TNC count would help cord blood banks more efficiently identify donors likely to yield high-quality UCBs for transplantation.

Neonatal Antibiotics and Prematurity Are Associated with an Increased Risk of Functional Gastrointestinal Disorders in the First Year of Life.

OBJECTIVE: To assess the prevalence of functional gastrointestinal disorders (FGIDs) in the first year of life and the influence of different neonatal factors on development of FGIDs. STUDY DESIGN: A prospective cohort multicenter study including neonates, consecutively enrolled at birth, and followed up until 1 year. Gestational age, neonatal antibiotic administration, duration of hospitalization, mode of delivery, birth weight, and feeding pattern were recorded. FGIDs were classified according to Rome III criteria and assessed at 1, 3, 6, and 12 months of life. RESULTS: Among 1152 newborns enrolled, 934 (81.1%) completed the study, 302 (32%) were newborns born preterm, 320 (34%) had neonatal antibiotics, and 718 (76.9%) had at least 1 FGID according to Rome III criteria (443 [47.4%] infantile colic, 374 [40.0%] regurgitation, 297 [31.8%] infant dyschezia, 248 [26.6%] functional constipation, and 34 [3.6%] functional diarrhea) throughout the first year of life. The proportion of infants born preterm presenting with FGIDs (86%) was significantly greater compared with infants born full term (72.5%) (χ2 = 21.3, P = .0001). On multivariate analysis, prematurity and neonatal use of antibiotics was significantly associated with at least 1 FGID. CONCLUSIONS: We found a high rate FGIDs in infants, likely related to the population recruited, the long observation period, the diagnosis based on Rome III criteria, and parental reports. Preterm delivery and neonatal use of antibiotics in the first months of life are associated with an increased incidence of FGIDs, particularly infantile colic and regurgitation. In our population, cesarean delivery and feeding pattern at 1 month of life emerged as additional risk factors for infant dyschezia and functional diarrhea. Other neonatal factors associated with FGIDs need to be further explored.

Hemolytic uremic syndrome in children.

Hemolytic uremic syndrome (HUS) is a thrombotic microangiopathy defined by thrombocytopenia, non-immune microangiopathic hemolytic anemia and acute renal failure. HUS is typically classified into two primary types: 1) HUS due to infections, often associated with diarrhea (D+HUS, Shiga toxin-producing Escherichia Coli-HUS), with the rare exception of HUS due to a severe disseminated infection caused by Streptococcus; 2) HUS related to complement, such HUS is also known as "atypical HUS" and is not diarrhea associated (D-HUS, aHUS); but recent studies have shown other forms of HUS, that can occur in the course of systemic diseases or physiopathological conditions such as pregnancy, after transplantation or after drug assumption. Moreover, new studies have shown that the complement system is an important factor also in the typical HUS, in which the infection could highlight an underlying dysregulation of complement factors. Clinical signs and symptoms may overlap among the different forms of HUS. Shiga toxin-producing Escherichia Coli (STEC) infection cause a spectrum of clinical sings ranging from asymptomatic carriage to non-bloody diarrhea, hemorrhagic colitis, HUS and death. The average interval between ingestion of STEC and illness manifestation is approximately 3 days, although this can vary between 2 and 12 days. Patients with pneumococcal HUS usually have a severe clinical picture with microangiopathic hemolytic anemia, respiratory distress, neurological involvement. The atypical HUS, in contrast to STEC-HUS which tends to occur as a single event, is a chronic condition and involves a poorer prognosis. Early diagnosis and identification of underlying pathogenic mechanism allow instating specific support measures and therapies. Typical management of STEC-HUS patients relies on supportive care of electrolyte and water imbalance, anemia, hypertension and renal failure. For the aHUS the initial management is supportive and similar to the approach for STEC-HUS; currently we have moved from the historic plasma therapy to new therapeutic approaches, first of all eculizumab, a monoclonal antibody that blocks the C5 cascade. This drug has shown an improvement in platelet count, cessation of hemolysis, improvement of renal function within a few days after the treatment. In patients with end-stage renal disease (ESRD) renal transplantation from a non-related donor and prophylactic administration of eculizumab to prevent recurrent disease in the allograft could be considered.

Iron deficiency anemia in newly diagnosed celiac disease in children.

BACKGROUND: Celiac disease (CD) in children may occur with a wide spectrum of clinical manifestations: anemia is the most frequent extraintestinal manifestation, iron deficiency anemia (IDA) is the common presentation. In our study we aimed to assess IDA condition in a large cohort of pediatric patients with newly diagnosed CD. METHODS: Our study includes a cohort of 518 children (340 females and 178 males), 6 months-18 years old, joined between January 1990 and January 2013. We have analyzed hematological parameters and iron balance: serum iron, serum ferritin and serum transferrin levels. The diagnosis of IDA was considered on the basis of hemoglobin levels below -2SD, associated with serum iron and ferritin reduction, serum transferrin increase; all compared with the normal reference values for age. RESULTS: Of all patients, 156 patients (30.1%) had anemia, including 103 females (19.8%) and 53 males (10.2%); of these, 112 (21.62%) had IDA (in 18 cases associated with α- or ß-thalassemia trait), 22 were thalassemic trait without iron deficiency and the remaining 19 suffered from other forms of anemia. One hundred fifteen patients (22.20%) with low ferritin levels but normal hemoglobin levels were considered as preanemic iron deficient patients. CONCLUSION: Our data confirm that iron depletion and IDA represent a frequent finding at the diagnosis of CD. This significant relation existing between CD and iron deficiency should be considered by pediatricians at the diagnosis of CD in order to treat the patients.

Postinfectious functional gastrointestinal disorders in children: a multicenter prospective study.

OBJECTIVES: To prospectively investigate the occurrence of postinfectious functional gastrointestinal disorders (FGIDs), diagnosed according to the Rome III criteria, in children with acute diarrhea of different infectious etiology. STUDY DESIGN: This was a prospective cohort multicenter study. Children 4-17 years of age presenting with acute diarrhea who tested positive for an enteric infection were recruited within 1 month from the episode and matched with control subjects of similar age and sex. Symptoms were evaluated with a validated questionnaire for FGIDs at the time of enrollment in the study and after 3 and 6 months. RESULTS: A total of 64 patients (36 boys; median age 5.3 years; age range 4.1-14.1 years) were recruited, 32 subjects in each arm. Infections included rotavirus (56.8%), salmonella (30%), adenovirus (6.6%), norovirus (3.3%), and Giardia lamblia (3.3%). FGIDs were significantly more common in exposed patients compared with controls within 1 month from acute diarrhea (40.6% vs 12.5% [P = .02, relative risk (RR) = 1.9]), 3 months (53% vs 15.6% [P = .003, RR = 2.2]), and 6 months (46.8% vs 15.6% [P = .01, RR = 1.9]) later. No correlation was found between different etiologies, age, or sex, and any type of FGIDs. Among exposed children, abdominal pain-related FGIDs were significantly more frequent compared with controls after 6 months from infection (P = .04, RR = 1.7). CONCLUSION: This prospective cohort multicenter study supports postinfectious FGIDs as a true entity in children. There seems to be a significant increase in abdominal pain-related FGIDs after acute diarrhea in children within 1 month and 3 and 6 months later.

Endocrine and metabolic disorders in adolescent and adult patients born small for gestational age.

Children born small for gestational age (SGA), defined by a birth weight and/or length standard deviation score (SDS) of < -2 based on an appropriate reference population, represent a diverse group due to multiple underlying causes of reduced growth. This classification results in a heterogeneous patient cohort. SGA children are prone to endocrinological and metabolic issues not only in childhood but also extending into adolescence and adulthood. This population faces elevated health risks, including persistent short stature, premature adrenarche, pubertal development alterations, neurocognitive problems, and metabolic syndrome. Insulin resistance emerges as a pivotal factor c nht6j7ikontributing to these metabolic complications, prominently featuring obesity, insulin resistance, hypertension, and an increased risk of type 2 diabetes mellitus in adulthood. These medium- to long-term complications significantly impact their quality of life. Growth hormone (GH) therapy for short children born SGA facilitates height normalization throughout childhood, adolescence, and into adulthood. Catch-up growth, however, correlates with heightened risks of obesity, insulin resistance, and metabolic syndrome. Conversely, those without catch-up growth tend to exhibit pronounced short stature and cognitive dysfunction. Given these determinants, comprehensive management and clinical monitoring of SGA children should commence in the neonatal period and extend into adulthood. Recognizing and addressing these challenges early in life can mitigate the long-term impact on health and well-being, emphasizing the importance of a lifelong approach to their care.

Iron Deficiency Anemia Refractory to Conventional Therapy but Responsive to Feralgine® in a Young Woman with Celiac Disease.

Iron, which is an important micronutrient in the human body may be deficient in people with celiac disease (CD). Iron deficiency anemia (IDA) may be the presenting feature of celiac disease, also in the absence of diarrhea or weight loss. The treatment of IDA in patient with CD is primarily a gluten-free-diet (GFD), but it is also very important oral iron supplementation until the iron stores have been restored. However, a frequent problem in CD is the poor tolerability and poor efficacy of oral iron preparations. A new product, consisting of the combination of Ferrous Bysglicinate Chelate and Sodium Alginate (Feralgine™), has been demonstrated to be more bioavailable and well tolerated in CD. We present a case report that showed a clear efficacy of this product in a form of IDA refractory to conventional therapy in a woman with CD and we demonstrated a clear increase of serum iron after administration of this new type of ferrous.

Iron Deficiency Anemia in Celiac Disease.

The iron absorption process developsmainly in the proximal duodenum. This portion of the intestine is typically destroyed in celiac disease (CD), resulting in a reduction in absorption of iron and subsequent iron deficiency anemia (IDA). In fact, the most frequent extra-intestinal manifestation (EIM) of CD is IDA, with a prevalence between 12 and 82% (in relation with the various reports) in patients with new CD diagnosis. The primary treatment of CD is the gluten-free diet (GFD), which is associated with adequate management of IDA, if present. Iron replacement treatment historically has been based on oral products containing ferrous sulphate (FS). However, the absorption of FS is limited in patients with active CD and unpredictable in patients on a GFD. Furthermore, a poor tolerability of this kind of ferrous is particularly frequent in patients with CD or with other inflammatory bowel diseases. Normalization from anemic state typically occurs after at least 6 months of GFD, but the process can take up to 2 years for iron stores to replenish.

The role of pelvic ultrasound for the diagnosis and management of central precocious puberty: An update.

Sexual precocity refers to the appearance of physical and hormonal signs of pubertal development at an earlier age. It may be considered as the expression of secondary sexual characteristics prior to the pubertal age In central precocious puberty (CPP), which is gonadotropin-dependent, early maturation of the entire hypothalamic-pituitary-gonadal (HPG) axis occurs, with the full spectrum of physical and hormonal changes of puberty. True precocious puberty in girls must also be distinguished from premature thelarche (PT), usually with breast development before the age of 3 years, and premature pubarche (PA), with the isolated development of pubic hair. These conditions are not usually associated with accelerated growth rate or advancement in bone age. Clinical, laboratory and instrumental evaluations are necessary for the diagnosis. Pelvic ultrasound could serve as a complementary tool for the diagnosis, treatment and follow-up of CPP. The interpretation of clinical, laboratory and strumental data must be performed by an expert pediatric endocrinologist to maximize the diagnostic value in females with pubertal disorders.

Epidemiological analysis on children and adolescents with COVID-19 in a central area of Calabria region: one year of pandemia.

not available.

Impact of novel coronavirus Disease-19 (COVID-19) pandemic in Italian pediatric emergency departments: a national survey.

BACKGROUND: Coronavirus Disease-19 (COVID-19) has rapidly become a pandemic emergency, distressing health systems in each affected country. Preparation strategies for managing this pandemic have been keys to face the COVID-19 surge all over the world and all levels of care. MATERIALS AND METHODS: During the epidemic, the Italian society of pediatric emergency-urgency (SIMEUP) promoted a national survey aiming to evaluate preparedness and response of pediatric emergency departments (PED) critical in ensuring optimal management of COVID-19 cases. RESULTS: Our results suggest that Italian PED have promptly set a proactive approach to the present emergency. 98.9% of the hospitals have defined special pathways and assistive protocols concerning the management of pediatric COVID-19 cases. The highest percentage of application of the measures for preventive and protective for COVID-19 concerned the use of personal protective equipments. CONCLUSIONS: Results show that the following measures for pediatric patients, admitted in PED, have been promptly implemented throughout the whole country: eg. use of protective devices, pre-triage of patients accessing the hospital. Despite COVID-19 being a new threat, we have shown that by developing an easy-to-follow decision algorithm and clear plans for the interventional platform teams, we can ensure optimal health care workers and patients' safety.

Camel milk: a possible alternative for children with cow's milk allergy?

BACKGROUND: Cow's milk protein allergy (CwMPA) is the most common food allergy during early childhood and its therapy consists in the elimination of cow's milk proteins (CwMP) from the diet and the introduction of alternative formulas. Evidence about clinical use of camel's milk (CM) in CwMPA in children is scarce. The aim of this study was to determine the entity of cross-sensitization between CM and CwM in children with CwMPA. METHODS: This prospective study was performed in children affected by CwMPA. We evaluated skin prick tests (SPT) for CwM, CwMP (alpha-lactalbumin [ALA], beta-lactoglobulin [BLG] and casein [CAS]) and CM and serum levels of CwM, ALA, BLG, CAS-sIgE. RESULTS: Sixty-seven children with CwMPA were included in this study: twenty-one resulted SPT+ to CM. Mean wheal diameters towards raw CwM, ALA, BLG and CAS resulted significantly larger in the CM SPT+ group than in the CM SPT- group (P<0.02). Likewise, mean IgE titers against CwM, ALA and CAS were significantly higher in the CM SPT+ group than in the CM SPT-group (P<0.01). The mean wheal diameter towards raw CwM was significantly larger than that towards CM (P<0.0001). CONCLUSIONS: This study confirms the presence of cross-sensitization between CwM and CM that remains lower if compared to other mammalian milks. Small wheals at the SPT towards CwM antigens together with low IgE titers against them could work as predictors in selecting patients that are expected to have negative CM SPT and then could be fed with CM with lower risks of allergic reactions.

Preliminary epidemiological analysis on children and adolescents with novel coronavirus disease (2019-nCoV) in a central area of Calabria region.

not available.

Hashimoto encephalopathy: a case report and a short revision of current literature.

Hashimoto encephalopathy (HE) is a rare but controversial entity encompassing a variety of neuropsychological presentations in the setting of autoimmune thyroid disease. HE, mostly described in adults, with a female­to­male ratio of 4:1, is a relatively rare entity in the pediatric population and probably under recognized as a cause of acute encephalopathy in children and adolescents. A number of pathogenetic mechanisms have been suggested. Female prevalence, presence of autoantibodies, fluctuating course, and response to immunomodulatory therapy suggest the autoimmune nature of the disease. Existing diagnostic criteria for adults require modification to be applied to children and adolescents, who differ from adults in their clinical presentations, clinical findings, autoantibody profiles, treatment response, and long-term outcomes. A combination of neurological findings, positive antithyroid autoantibodies, and responsiveness to steroids is diagnostic of HE. We add a new case of HE in an adolescent girl and review the current HE literature.

Evaluation of the Application of Italian National Guidelines for Prevention and Management of Dental Injuries in Developmental Age.

Background: The objective of this study is to evaluate the application of National guidelines for prevention and clinical management of traumatic dental injuries (NGPCMTDI) in developmental age published by the Italian Ministry of Health. Methods: In the present retrospective and multicenter study, 246 patients who underwent dental injury were selected to assess the management of the traumatic event compiled with the protocol provided by the National guidelines. Each health worker involved completed a form related to the dental injury in order to standardize the collected data. Two reference centers have been identified for data collection. Analyses for comparisons between groups were performed using the X2 test for categorical variables or by Fisher exact test as appropriate. Statistical significance was assumed at p < 0.05. Results: Evaluating the distribution by age we concluded that: 27.24% of the enrolled patients were aged 1-5 years, 51.63% 6-10 years, and 19.92% 11-17 years. The dental injuries occurred in 10.16% of the situations at home, 50.81% at school, 28.86% during recreation, and 9.35% at the gym. The deciduous dentition is involved in 34.96% of the traumas while the permanent dentition is involved in 69.51%. Conclusion: From the present study it emerged that the National guidelines are not uniformly applied.

Screening of COVID-19 in children admitted to the hospital for acute problems: preliminary data.

BACKGROUND: The new Coronavirus identified in Whuan at the end of 2019 (SARS-CoV-2) belongs to the Beta Coronavirus genus and is responsible for the new Coronavirus 2019 pandemia (COVID-19). Infected children may be asymptomatic or present fever, dry cough, fatigue or gastrointestinal symptoms. The CDC recommends that clinicians should decide to test patients based on the presence of signs and symptoms compatible with COVID-19. MATERIAL AND METHODS: 42 children (the majority < 5 years of age) were referred, to our Pediatric Department, as possible cases of COVID-19 infection. Blood analysis, chest X-ray, and naso-oropharyngeal swab specimens for viral identification of COVID-19 were requested. RESULTS: None of the screened children resulted positive for COVID-19 infection. At first presentation, the most frequent signs and symptoms were: fever (71.4%), fatigue (35.7%) and cough (30.9%).  An  high  C-reactive protein value and abnormalities of chest  X-ray (bronchial wall thickening) were detected in 26.2% and 19% of patients, respectively. Almost half of patients (45.2%) required hospitalization in our Pediatric Unit and one patient in Intensive Care Unit. CONCLUSIONS: Testing people who meet the COVID-19 suspected case definition criteria is essential for clinical management and outbreak control. Children of all ages can get COVID-19, although they appear to be affected less frequently than adults, as reported in our preliminary survey. Further studies are needed to confirm our observations.

Birth Weight and the Development of Functional Gastrointestinal Disorders in Infants.

PURPOSE: To assess the association between birth weight and the development of functional gastrointestinal disorders (FGIDs) in the first year of life. METHODS: This is a secondary analysis of a prospective cohort multicenter study including neonates, consecutively enrolled at birth, and followed up for one year. At birth all infants were classified by birth weight as extremely low (ELBW), very low, or low when <1,000, <1,500, and <2,500 g, respectively, and by birth weight for gestational age as appropriate (AGA, weight in the 10-90th percentile), small (SGA, weight <10th percentile), and large (LGA, weight >90th percentile) for gestational age. FGIDs were classified according to the Rome III criteria and assessed at 1, 3, 6, and 12 months of life. RESULTS: Among 1,152 newborns enrolled, 934 (81.1%) completed the study: 302 (32.3%) were preterm, 35 (3.7%) were ELBW, 104 (11.1%) were SGA, 782 (83.7%) were AGA, and 48 (5.1%) were LGA infants. Overall, throughout the first year of life, 718 (76.9%) reported at least one FGID. The proportion of infants presenting with at least one FGID was significantly higher in ELBW (97%) compared to LBW (74%) (p=0.01) and in LGA (85.4%) and SGA (85.6%) compared to AGA (75.2%) (p=0.0001). On multivariate analysis, SGA was significantly associated with infantile colic. CONCLUSION: We observed an increased risk of FGIDs in ELBW, SGA, and LGA neonates. Our results suggest that prenatal factors determining birth weight may influence the development of FGIDs in infants. Understanding the role of all potential risk factors may provide new insights and targeted approaches for FGIDs.

A case of Kallmann syndrome associated to a novel missense mutation of the FGFR1 gene.

BACKGROUND: Loss-of-function mutations of fibroblast growth factor receptor 1 gene (FGFR1) have been reported so far. These mutations have been described in the extracellular domain, consisting of three Ig-like domains in the single transmembrane helix and in the intracellular region, containing a tyrosine kinase domain and cause about 10% of all cases of Kallmann syndrome. FRGR1 mutations could be associated with non reproductive phenotype such as cleft palate and dental agenesis and a wide spectrum of reproductive phenotype. CASE REPORT: The patient, 17 years and 11 months old, was a Bulgarian male referred to our Pediatric Endocrinology Unit for pubertal failure and hyposmia. Clinical evaluation revealed a highpitched voice, gynecomastia and obesity. Hormonal study revealed hypogonadotropic hypogonadism. Molecular analysis, performed by Next Generation Sequencing and confirmed by Sanger sequencing, led to the identification of a novel and previously undescribed mutation c.1058 C>G (p. S353C) in heterozygous state on exon 8 of the FGFR1 gene. CONCLUSION: The novel mutation, that we found in a boy with Kallman syndrome, could destabilize the D3 immunoglobulin like receptor domain that is crucial for the FGF-FGFR interaction. (www.actabiomedica.it).

Acute abdominal pain in an adolescent girl with an ovarian yolk sac tumor.

Yolk sac tumor (YST) is a rare tumor that usually occurs in the first two decades of life. It is considered the second most common malignant germ cell tumor of the ovary, characterized by a rapid growth and a bad prognosis due to the frequent metastasis. We report the case of a 12-year-old girl who came to our observation for an acute abdominal pain. Clinical examination evidenced a vague mass in the suprapubic region and a lower abdomen tenderness, the US imaging revealed a complex lesion of the left ovary (19 x 13 cm) and the alpha-fetoprotein (AFP) resulted high (5858 ng/mL). Computed tomography (CT) revealed a large pelvic mass. The treatment consisted of debulking surgery of yolk sac tumor followed by 4 cycles of BEP protocol (Bleomycin, Etoposide, Cisplatin). After 3 years of follow-up there was no evidence of disease recurrence. (www.actabiomedica.it).