Exclusive Breastfeeding and Vitamin D Supplementation: A Positive Synergistic Effect on Prevention of Childhood Infections?

Human milk is the best food for infants. Breastfeeding has been associated with a reduced risk of viral and bacterial infections. Breast milk contains the perfect amount of nutrients needed to promote infant growth, except for vitamin D. Vitamin D is crucial for calcium metabolism and bone health, and it also has extra-skeletal actions, involving innate and adaptive immunity. As exclusive breastfeeding is a risk factor for vitamin D deficiency, infants should be supplemented with vitamin D at least during the first year. The promotion of breastfeeding and vitamin D supplementation represents an important objective of public health.

Gestational vitamin D3 supplementation and sun exposure significantly influence cord blood vitamin D status and 3-epi-25-hydroxyvitamin D3 levels in term newborns.

BACKGROUND AND AIMS: High prevalence of hypovitaminosis D is worldwide reported among pregnant women and newborns. We assessed cord blood 25-hydroxyvitamin D3 [25(OH)D3] and 3-epi-25-hydroxyvitamin D3 (C3-epimer) levels in relation to assumed maternal risk factors for hypovitaminosis D. METHODS: We enrolled 246 term newborns during summer. 175/246 mothers were supplemented with a daily variable dosage (200-1,000 IU) of vitamin D3 during pregnancy. Cord blood 25(OH)D3 and C3-epimer concentrations were analyzed by high performance liquid chromatography tandem mass spectrometry. RESULTS: Median cord blood 25(OH)D3 levels were 23.4 ng/mL (16.9-28.8). The prevalences of vitamin D sufficiency (≥ 30.0 ng/mL), insufficiency (20.0-29.9 ng/mL), and deficiency (< 20.0 ng/mL) were 19.9%, 45.9%, and 34.2%, respectively. Non-Caucasian ethnicity, housewife life, weight excess, negligible sun exposure and absent gestational vitamin D supplementation were associated with both reduced cord blood 25(OH)D3 and C3-epimer levels. C3-epimer/25(OH)D3 ratio was 15.1% (13.6%-18.4%) and it was not related to any of the assumed risk factors for hypovitaminosis D. CONCLUSIONS: Cord blood vitamin D deficiency was common, particularly in newborns from mother not receiving vitamin D supplementation and with poor sun exposure. C3-epimer levels were high in cord blood, causing possible misclassification of vitamin D status if they were not distinguished from 25(OH)D3 concentrations.

Pediatric Tuberculosis in Italian Children: Epidemiological and Clinical Data from the Italian Register of Pediatric Tuberculosis.

Tuberculosis (TB) is one of the leading causes of death worldwide. Over the last decades, TB has also emerged in the pediatric population. Epidemiologic data of childhood TB are still limited and there is an urgent need of more data on very large cohorts. A multicenter study was conducted in 27 pediatric hospitals, pediatric wards, and public health centers in Italy using a standardized form, covering the period of time between 1 January 2010 and 31 December 2012. Children with active TB, latent TB, and those recently exposed to TB or recently adopted/immigrated from a high TB incidence country were enrolled. Overall, 4234 children were included; 554 (13.1%) children had active TB, 594 (14.0%) latent TB and 3086 (72.9%) were uninfected. Among children with active TB, 481 (86.8%) patients had pulmonary TB. The treatment of active TB cases was known for 96.4% (n = 534) of the cases. Overall, 210 (39.3%) out of these 534 children were treated with three and 216 (40.4%) with four first-line drugs. Second-line drugs where used in 87 (16.3%) children with active TB. Drug-resistant strains of Mycobacterium tuberculosis were reported in 39 (7%) children. Improving the surveillance of childhood TB is important for public health care workers and pediatricians. A non-negligible proportion of children had drug-resistant TB and was treated with second-line drugs, most of which are off-label in the pediatric age. Future efforts should concentrate on improving active surveillance, diagnostic tools, and the availability of antitubercular pediatric formulations, also in low-endemic countries.

Diffuse sterile pustular eruption with changing clinical features in a 2-year old.

We report a 2-year-old girl with diffuse pustular eruptions occurring in close association with respiratory tract infections. The pustular eruption had different clinical characteristics over time, evolving from circinate to von Zumbush pustular psoriasis, and finally to subcorneal pustular dermatosis. Treatment with acitretin 1 mg/kg/day gave good results. A relapse showing striking clinical characteristics of subcorneal pustular dermatosis was treated with dapsone (1 mg/kg/day) followed by ultraviolet B-narrowband (UV-B-NB) phototherapy. The patient subsequently had several relapses over 1 year, which were well controlled with short cycles of UV-B-NB. This patient's findings demonstrate that pustular eruptions can vary over time, assuming clearly different clinical patterns, and highlight the difficulty of classifying pustular eruptions as separate diseases.

Severe prognosis in a large family with hypokalemic periodic paralysis.

Hypokalemic periodic paralysis (HypoPP) is a channel disorder caused primarily by mutations in the human skeletal muscle alpha1 subunit (CACNA1S) of the dihydropyridine-sensitive calcium channel. Molecular, clinical, and biochemical studies were aimed at establishing genotype/phenotype correlations in a large Italian family affected by a severe form of HypoPP. Whereas patients with HypoPP usually show a normal life span, in this family three male patients died young, one of them from anesthetic complications resembling malignant hyperthermia. Our patients carried the c1583G>A genetic lesion (R528H), which has been associated with a mild phenotype and with incomplete penetrance in women. Surprisingly, the R528H amino acid substitution in the family presented here correlated with an unfavorable prognosis in both male and female patients. We conclude that genetic characterization is an important requirement to alert physicians about the management of similar patients, especially when anesthesia is considered.

Identification of fifteen novel mutations in the SLC12A3 gene encoding the Na-Cl Co-transporter in Italian patients with Gitelman syndrome.

The SLC12A3 gene encodes the thiazide-sensitive Na-Cl co-transporter (NCCT) expressed in the apical membrane of the distal convoluted tubule of the kidney. Inactivating mutations of this gene are responsible for Gitelman syndrome (GS), a disorder inherited as an autosomal recessive trait. We searched for SLC12A3 gene mutations in 21 Italian patients with the clinical and biochemical features of GS (hypokalemia, hypomagnesemia, metabolic alkalosis, hypocalciuria, and the absence of nephrocalcinosis). All coding regions with their intron-exon boundaries were analyzed using PCR and SSCP techniques followed by sequencing analysis. We identified 21 different mutations evenly distributed throughout the gene without any mutation hot-spot. Fifteen are novel variants, including 12 missense mutations, one deletion, one deletion-insertion and one splice site mutation: R158Q, T163M, W172R, G316V, G374V, G463E, A464T, S615W, V677M, R852S, R958G, C985Y, 2114-2120delACCAAGT, 2144-2158delGCCTTCTACTCGGATinsTG, and 531-2A>G.