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Haemochromatosis (HC) encompasses a range of genetic disorders. HFE-HC is by far the most common in adults, while non-HFE types are rare due to mutations of HJV, HAMP, TFR2 and gain-of-function mutations of SLC40A1. HC is often unknown to paediatricians as it is usually asymptomatic in childhood. We report clinical and biochemical data from 24 paediatric cases of HC (10 cases of HFE-, 5 TFR2-, 9 HJV-HC), with a median follow-up of 9.6 years. Unlike in the adult population, non-HFE-HC constitutes 58% (14/24) of the population in our series. Transferrin saturation was significantly higher in TFR2- and HJV-HC compared to HFE-HC, and serum ferritin and LIC were higher in HJV-HC compared to TFR2- and HFE-HC. Most HFE-HC subjects had relatively low ferritin and LIC at the time of diagnosis, so therapy could be postponed for most of them after the age of 18. Our results confirm that HJV-HC is a severe form already in childhood, emphasizing the importance of early diagnosis and treatment to avoid the development of organ damage and reduce morbidity and mortality. Although phlebotomies were tolerated by most patients, oral iron chelators could be a valid option in early-onset HC., (© 2023 The Authors. British Journal of Haematology published by British Society for Haematology and John Wiley & Sons Ltd.)

Objective: To determine the short-, mid-, and long-term complications after multisystem inflammatory syndrome in children (MIS-C) over a 24-month follow-up period in a hospital in Lima, Peru, 2020-2022, and to explore differences according to the immunomodulatory treatment received and type of SARS-CoV-2 virus circulating., Methods: Ambispective 24-month follow-up study in children <14 years of age diagnosed with MIS-C at the Hospital Nacional Edgardo Rebagliati Martins (HNERM)., Results: A total of 62 children were admitted with MIS-C. The most common short-term complications and serious events were intensive care unit (ICU) admission, invasive mechanical ventilation (IMV) due to respiratory failure, and shock; predominantly during the second pandemic wave (lambda predominance) and in children that received intravenous immunoglobulin (IVIG) plus a corticosteroid. Two patients died during the first wave due to MIS-C. During prospective follow-up (median of 24 months; IQR: 16.7-24), only 46.7% of patients were followed for >18-24 months. Of the total, seven (11.3%) patients were identified with some sequelae on discharge. Among the 43 remaining children, sequelae persisted in five (11.6%) cases (neurological, hematological, and skin problems). Six patients (13.9%) presented with new onset disease (hematologic, respiratory, neurological, and psychiatric disorders). One patient died due to acute leukemia during the follow-up period. None of them were admitted to the ICU or presented with MIS-C reactivation. Two patients presented persistence of coronary aneurysm until 8- and 24-month post-discharge., Conclusion: In our hospital, children with MIS-C frequently developed short-term complications and serious events during the acute phase, with less frequent complications in the mid- and long-term. More studies are required to confirm these findings., Competing Interests: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest., (© 2023 Alvarado-Gamarra, Estupiñan-Vigil, Garcés-Ghilardi, Domínguez-Rojas, del Águila, Alcalá-Marcos, Márquez Llanos, Ecker, Celis, Alva-Diaz and Lanata.)

Objectives.: Motivation for the study. There are few reports on the clinical experience of the population infected with the omicron variant of COVID-19 in Latin America, particularly in pediatric population. Main findings. There was a rapid increase in the number of hospitalizations compared to previous waves, mainly due to respiratory conditions; most patients progressed favorably. Antibiotics and corticosteroids were the most used drugs. Implications. Studying the characteristics of children hospitalized during the third wave of COVID-19 in Peru may increase the knowledge of how the omicron variant affects this population group, which will allow comparisons with possible new waves or diseases.

The multisystem inflammatory syndrome in children associated with COVID-19 (MIS-C) is infre quent but potentially lethal. There are few reports of this disease and its phenotypes in Latin America., Objective: To describe the characteristics of the clinical phenotypes of MIS-C in hospitalized patients in Lima, Peru., Patients and Method: A descriptive and retrospective study in patients under 14 years old with a diagnosis of MIS-C at the Hospital Nacional Edgardo Rebagliati Martins (Lima, Perú), from April 2020 to August 2021. Clinical-demographic and microbiological variables were recorded. According to these, patients with MIS-C were classified into the shock phenotype, Kawasaki disease (KD) without shock, and the fever and inflammation phenotype, analyzing their clinical outcomes., Results: 58 patients were analyzed. 32 (55.2%) presented the shock phenotype, 15 (25.8%) Kawasaki disease (KD) phenotype without shock, and 11 (19%) fever and inflammation phenotype. In the shock phenotype, 17 had KD. The mean age was 7 ± 3.5 years and 67.2% were males. Gastrointes tinal and mucocutaneous manifestations predominated in all phenotypes. The mortality was 3.5%. The frequency of coronary aneurysms was 10.2%. Most patients received immunomodulatory and antiplatelet treatment. Patients with shock phenotype showed greater involvement in inflammatory markers, hematological dysfunction, and myocardial injury, with a higher frequency of respiratory failure and invasive mechanical ventilation., Conclusions: In our case series, patients with shock phenotype were the most frequent and had worse clinical outcomes. Active surveillance of clinical phenotypes is needed to make an early diagnosis and management to improve the prognosis in these patients.

Introduction: Coronavirus 2019 (SARS-CoV-2) infection in children occurred in Peru as of March 2020, leading to pediatric patients' hospitalization in areas adapted for this purpose at the Edgardo Rebagliati Martins National Hospital. In the beginning, the demand for hospitalization was low, but it increased gradually. Consistent with international reports, the majority of patients presented mild or moderate symptoms. Nonetheless, there were also severe cases, even fatal ones., Objectives: To describe the characteristics and clinical outcome of pediatric patients with COVID-19 hospitalized in a referral hospital in Lima, Peru, between March and August 2020., Methods: A descriptive and inferential cross-sectional study was carried out. The population includes all hospitalized patients in the Department of Pediatrics, with clinical and surgical diagnoses associated with COVID-19., Results: We included 100 patients, with an average age of 83.4 ± 54 months, with a predominance of male patients (55%). Hospitalized patients were grouped into five categories: respiratory failure (17%), multisystemic inflammatory syndrome (MIS-C) (31%), neurological presentation (19%), acute abdomen (20%), and patients with oncological problems (13%). Most of the patients (74%) had comorbidities. Regarding the presenting symptoms, intestinal pain predominated in the appendicitis group (90%, p < 0.001), fever was present in most patients with respiratory failure (64.7%); multisystemic inflammatory syndrome (90.3%), neurological manifestations (15.8%), acute abdomen (50%) and oncological conditions (61.5%) were also present in these patients. Kawasaki symptoms were found in 38.7% of the patients with multisystemic inflammatory syndrome. Mortality was 4%. Respiratory problems (29.4%) and multisystemic inflammatory syndrome (22.6%) required admission to intensive care, more frequently than the other presentations (p = 0.008)., Conclusions: We conclude that the vulnerability in the pediatric population is the one that has preexisting conditions. We divided our patients according to presentation, diagnosis, and complications, which were predominantly respiratory. We also had oncological patients with COVID-19.

Primary autoimmune neutropenia (pAN) is typified by onset in early infancy and a mild/moderate phenotype that resolves within 3 years of diagnosis. In contrast, secondary AN is classically an adult disease associated with malignancy, autoimmunity, immunodeficiency, viral infection, or drugs. This study describes a cohort of 79 children from the Italian Registry who, although resembling pAN, did not fully match the criteria for pAN because neutropenia either appeared after age 5 years (LO-Np) or lasted longer than 3 years (LL-Np). These 2 categories compared with classical pAN showed a far inferior rate of resolution (P < .001), lower severity of neutropenia (P = .03), leukopenia (P < .001), lymphopenia (P < .001) with low B+ (P = .001), increased need of granulocyte colony-stimulating factor (P = .04), and increased frequency of autoimmunity over the disease course (P < .001). A paired comparison between LO-Np and LL-Np suggested that LO-Np had a lower rate of resolution (P < .001) and lower white blood cell (P < .001) and lymphocyte (P < .001) values, higher occurrence of apthae (P = .008), and a stronger association with autoimmune diseases/markers (P = .001) than LL-Np, thus suggesting a more pronounced autoimmune signature for LO-Np. A next-generation sequencing panel applied in a small subgroup of LO-Np and LL-Np patients identified variants related to immune dysregulations. Overall, these findings indicate that there are important differences among pAN LL-Np and LO-Np. Forms rising after 3 years of age, with low tendency to resolution, require tight monitoring and extensive immune investigations aimed to early identify underlying immunologic disease., (© 2020 by The American Society of Hematology.)

Maintenance with isotonic fluids is recommended in children with gastroenteritis and failure of oral rehydration therapy. However, little is known on the short-term effects of the commonly prescribed intravenous solutions on metabolic balance in children. The aim of this study is to report on our experience with normal saline, dextrose-supplemented saline and lactated Ringer solution., Methods: A retrospective analysis from the charts of all previously apparently healthy children with acute gastroenteritis, mild to moderate dehydration and failure of oral rehydration, evaluated between January 2016 and December 2019 at our institution, was performed. Subjects prescribed the above-mentioned maintenance intravenous fluids and with blood testing immediately before starting fluid therapy and 4-6 h later, were eligible. The changes in bicarbonate, ionized sodium, potassium, chloride, anion gap and glucose were investigated. Kruskal-Wallis test with the post-hoc Dunn's comparison and the Fisher exact test were applied., Results: A total of 134 out of 732 children affected by acute gastroenteritis were included (56 patients were prescribed normal saline, 48 dextrose-supplemented normal saline and 30 lactated Ringer solution). The effect of the three solutions on sodium and potassium was similar. As compared to non-supplemented normal saline (+0.4 (-1.9 - +2.2) mmol/L), dextrose-supplemented normal saline (+1.5 (+0.1 - +4.2) mmol/L) and lactated Ringer (+2.6 (+0.4 - +4.1) mmol/L) solution had a positive effect on plasma bicarbonate. Finally, the influence of dextrose-supplemented saline on blood glucose was different (+1.1 (+0.3 - +2.2) mmol/L) compared to that observed in cases hydrated with non-supplemented saline (-0.4 (-1.2 - +0.3) mmol/L) or lactated Ringer solution (-0.4 (-1.2 - +0.1) mmol/L)., Conclusions: This study points out that maintenance intravenous therapies using normal saline, dextrose-supplemented saline or lactated Ringer solution have different effects on metabolic balance. A personalized fluid therapy that takes into account the clinical and biochemical variables is advised.

Autoimmune neutropenia of infancy (AIN) is characterized by low risk of severe infection, tendency to spontaneously resolve and typically onset at ≤4-5 years of age; it is due to auto-antibodies whose detection is often difficult. In case of negativity of 4 antineutrophils autoantibody tests, after having excluded ethnic, postinfection, drug induced, or congenital neutropenia, according to the Italian guidelines the patients will be defined as affected by "idiopathic neutropenia" (IN). We describe the characteristics of 85 IN patients enrolled in the Italian neutropenia registry: they were compared with 336 children affected by AIN. The 2 groups were clinically very similar and the main differences were detection age (later in IN), length of disease (longer in IN) and, among recovered patients, age of spontaneous recovery: the median age at resolution was 2.13 years in AINs and 3.03 years in INs (P = .00002). At bivariate analysis among AIN patients earlier detection age (P = .00013), male sex (P = .000748), absence of leucopenia (P = .0045), and absence of monocytosis (P = .0419) were significantly associated with earlier recovery; in the IN group only detection age (P = .013) and absence of monocytosis (P = .0333) were significant. At multivariate analysis detection age and absence of monocytosis were independently significant (P = 6.7e-05 and 4.4e-03, respectively) in the AIN group, whereas in the IN group only detection age stayed significant (P = .013)., (© 2018 Wiley Periodicals, Inc.)

Background: Chronic benign neutropenia of infancy includes primary autoimmune neutropenia (pAIN) and chronic idiopathic neutropenia (CIN). A diagnosis of CIN is supported by the absence of free and/or cell-bound neutrophil autoantibodies, which can be detected by flow cytometry with the indirect-granulocyte immunofluorescence test (I-GIFT) and direct-granulocyte immunofluorescence test (D-GIFT), respectively. Conclusive evidence is lacking on the diagnostic value of the D-GIFT, whose performance requires specific laboratory expertise, may be logistically difficult, and hampered by very low neutrophil count in patient samples. This study investigated whether the evaluation of D-GIFT improves the diagnostic accuracy of pediatric neutropenia., Procedure: I-GIFT and D-GIFT were performed in 174 pAIN, 162 CIN, 81 secondary AIN, 51 postinfection neutropenic, and 65 nonautoimmune neutropenic children referred to this laboratory during 2002-2014., Results: Using 90% specific median fluorescence intensity cut-off values calculated by receiver operating characteristic curves, D-GIFT was positive in 49% of CIN patients, who showed similar clinical features as those with pAIN. In 44 (27%) of 162 CIN patients, I-GIFT was repeated two to three times in a year, resulting positive in 12 and two patients at second and third screening, respectively. Interestingly, 10 of the latter 14 patients showed a positive D-GIFT at the first serological screening. False positive D-GIFT was shown by 12% and 22% of nonneutropenic and nonautoimmune neutropenic patients, respectively., Conclusions: D-GIFT evaluation improves the diagnostic accuracy of pediatric neutropenia, but improvement of cell-bound antibody detection is needed to decrease false positive results., (© 2017 Wiley Periodicals, Inc.)

Several studies of the physiological responses of different organisms exposed to extremely low-frequency electromagnetic fields (ELF-EMF) have been described. In this work, we report the minimal effects of in situ exposure to ELF-EMF on the global protein expression of Chromobacterium violaceum using a gel-based proteomic approach. The protein expression profile was only slightly altered, with five differentially expressed proteins detected in the exposed cultures; two of these proteins (DNA-binding stress protein, Dps, and alcohol dehydrogenase) were identified by MS/MS. The enhanced expression of Dps possibly helped to prevent physical damage to DNA. Although small, the changes in protein expression observed here were probably beneficial in helping the bacteria to adapt to the stress generated by the electromagnetic field.

We describe the incidence and characteristics of infections in children with severe congenital neutropenia (SCN), autoimmune neutropenia (AN) and idiopathic neutropenia (IN). Data extracted from the Italian Neutropenia Registry on 73 patients with 108 episodes of infections were collected from 2000 to 2009. All SCN patients with SCN and one third of AN and IN experienced at least 1 infectious episode, equating to 5.7 infections/patient in SCN and approximately 0.6 in AN and IN. The rate of infections before diagnosis of neutropenia was 6.35/1000 patient-days at risk in SCN, 0.48 in AN and 0.71 in IN (P < 0.001) and significantly decreased after diagnosis. Skin and subcutaneous abscesses and cellulitis were the most frequent types of infection encountered, followed by pneumonia. Infections are an important clinical issue in the management of neutropenic patients, even in those considered at lower risk.

The management of congenital and acquired neutropenias presents some differences according to the type of the disease. Treatment with recombinant human granulocyte-colony stimulating factor (G-CSF) is not standardized and scanty data are available on the best schedule to apply. The frequency and the type of longitudinal controls in patients affected with neutropenias are not usually discussed in the literature. The Neutropenia Committee of the Marrow Failure Syndrome Group (MFSG) of the Associazione Italiana di Emato-Oncologia Pediatrica (AIEOP) elaborated this document following design and methodology formerly approved by the AIEOP board. The panel of experts reviewed the literature on the topic and participated in a conference producing a document that includes recommendations on neutropenia treatment and timing of follow-up.

Microbial diversity was evaluated in an anoxic zone of Tucuruí Hydroelectric Power Station reservoir in Brazilian Amazonia using a culture-independent approach by amplifying and sequencing fragments of the 16S rRNA gene using metagenomic DNA as a template. Samples obtained from the photic, aphotic (40 m) and sediment (60 m) layers were used to construct six 16S rDNA libraries containing a total of 1,152 clones. The sediment, aphotic and photic layers presented 64, 33 and 35 unique archaeal operational taxonomic units (OTUs). The estimated richness of these layers was evaluated to be 153, 106 and 79 archaeal OTUs, respectively, using the abundance-based coverage estimator (ACE) and 114, 83 and 77 OTUs using the Chao1 estimator. For bacterial sequences, 114, 69 and 57 OTUs were found in the sediment, aphotic and photic layers, which presented estimated richnesses of 1,414, 522 and 197 OTUs (ACE) and 1,059, 1,014 and 148 OTUs (Chao1), respectively. Phylogenetic analyses of the sequences obtained revealed a high richness of microorganisms which participate in the carbon cycle, namely, methanogenic archaea and methanotrophic proteobacteria. Most sequences obtained belong to non-culturable prokaryotes. The present study offers the first glimpse of the huge microbial diversity of an anoxic area of a man-made lacustrine environment in the tropics.

Congenital and acquired neutropenia are rare disorders whose frequency in pediatric age may be underestimated due to remarkable differences in definition or misdiagnosed because of the lack of common practice guidelines. Neutropenia Committee of the Marrow Failure Syndrome Group (MFSG) of the AIEOP (Associazione Italiana Emato-Oncologia Pediatrica) elaborated this document following design and methodology formerly approved by the AIEOP board. The panel of experts reviewed the literature on the topic and participated in a conference producing a document which includes a classification of neutropenia and a comprehensive guideline on diagnosis of neutropenia., (Copyright © 2011 Wiley-Liss, Inc.)

The purpose of this work was to describe a clinical case with reduced vertical height in both the posterior sectors, due to maxillary dento-alveolar extrusion in mandibular edentulous space, as a result of some extractions which have not been promptly replaced by a prosthetic rehabilitation, eventually resolved with a bilateral posterior segmental maxillary osteotomy (PMSO). Our surgical technique was practised under general anesthesia according to Kufner's version of Schuchardt's original description. In the light of the present outcomes, in severe clinical cases of dento-alveolar extrusion, the PMSO can be considered the optimal solution, because of the quality and the stability of the final result, the short therapeutic times, the limited morbidity and the modest compliance asked to the patient.

Female breast cancer is one of the major causes of death among women while male breast cancer is relatively uncommon and accounts for about 1% of all breast cancers in both sexes. Influencing factors are: gynecomasty, familiarity for male breast cancer, Jewish and African-American male population. From the histological point of view, it is not different from the female breast cancer, except for the infiltrant ductal carcinoma, but with a much severe prognosis. Breast cancer metastases to the jaws are rare, only 1%; the most common sites of metastases are: lungs(59-69%), liver (58-65%), bone (44-71%), pleura (23-37%), brain (9-22%) and kidney (4-17%). At present, based on a literature research (May 2006), there have been just two other case reports of male breast cancer metastasis to the maxillofacial region, both to the mandible. The case of a 69-year-old white man who in 2001 underwent a radical mastectomy due to ductal breast cancer is reported. In 2005 the patient was referred to our department by his oncologist for multiple oral fistula. A mandibular TC revealed osteolytic lesions and the patient underwent mandibular surgery to remove the lesions and clean up the area. The histological examination was consistent with that of a metastatic deposit of adenocarcinoma of the breast. In June 2006 the patient died due to worsening of the general clinical conditions, in particular due to ascites and hepatic insufficiency.

Deferoxamine (DFO) therapy has been associated with improved survival of thalassemia patients. However, cardiac disease remains the main cause of death in those patients. In 1995, the oral chelator deferiprone became available for clinical use. We compared the occurrence of cardiac disease in patients treated only with DFO and in those whose therapy was switched to deferiprone during the period of observation, from January 31, 1995, to December 31, 2003. All patients with thalassemia major treated in 7 Italian centers who were born between 1970 and 1993 and who had not experienced a cardiac event prior to January 1995 were included. DFO only was given to 359 patients, and 157 patients received deferiprone for part of the time. A total of 3,610 patient-years were observed on DFO and 750 on deferiprone. At baseline, the 2 groups were comparable for age and sex, while ferritin levels were significantly higher in patients switched to deferiprone. Fifty-two cardiac events, including 10 cardiac deaths, occurred during therapy with DFO. No cardiac events occurred during deferiprone therapy or within at least 18 months after the end of it. In the setting of a natural history study, deferiprone therapy was associated with significantly greater cardiac protection than deferoxamine in patients with thalassemia major.

Background and Objectives: Seven Italian centers reported data on survival, causes of death and appearance of complications in patients with thalassemia major. The interactions between gender, birth cohort, complications, and ferritin on survival and complications were analyzed., Design and Methods: Survival after the first decade was studied for 977 patients born since 1960 whereas survival since birth and complication appearance was studied for the 720 patients born after 1970. Better survival was demonstrated for patients born in more recent years (p<0.00005) and for females (p=0.0003); 68% of the patients are alive at the age of 35 years. In the entire population 67% of the deaths were due to heart disease., Results: There was a significant association between birth cohort and complication-free survival (p<0.0005). The prevalence of complications was: heart failure 6.8%, arrhythmia 5.7%, hypogonadism 54.7%, hypothyroidism 10.8%, diabetes 6.4%, HIV infection 1.7%, and thrombosis 1.1%. Lower ferritin levels were associated with a lower probability of heart failure (hazard ratio =3.35, p<0.005) and with prolonged survival (hazard ratio = 2.45, p<0.005), using a cut-off as low as 1,000 ng/mL., Interpretation and Conclusions: Survival and complication-free survival of patients with thalassemia major continue to improve, especially for female patients born shortly before or after the availability of iron chelation.

Today many surgical procedures involving head and neck areas can be performed under local anesthesia and intravenous sedation. The authors add to this list the sagittal osteotomies of the mandibular rami, thereby avoiding the need for general anesthesia and a hospital stay. The authors designed a protocol to be followed in a multicenter study (Milan and Barcelona) and applied it in 35 clinical cases with Class II malocclusion. The surgical procedure was performed with the Monitored Anesthesia Care technique, a combination of regional anesthesia and intravenous sedation. The results were good in all the clinical cases; skeletal correction of Class II was achieved in all patients and there were no intraoperative or postoperative complications. The major advantage of this technique is the functional control of the temporomandibular joint, which avoids displacements caused by gravity and the muscular relaxation commonly seen under general anesthesia. Furthermore, this protocol allows a reduction in costs, duration of surgery, and patient morbidity and convalescence. When this technique is accepted without hesitation, all Class II patients with only mandibular deficiency deformity may be treated in the most suitable way, thus providing the most satisfactory outcomes for the patient, orthodontist, and surgeon.