Richard Fabian Schumacher
University of Brescia
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Featured researches published by Richard Fabian Schumacher.
Immunological Reviews | 2000
Luigi D. Notarangelo; Silvia Giliani; Cinzia Mazza; Patrizia Mella; Gianfranco Savoldi; Carmen Rodriguez‐Pérez; Evelina Mazzolari; Maurilia Fiorini; Marzia Duse; Alessandro Plebani; Alberto G. Ugazio; Mauno Vihinen; Fabio Candotti; Richard Fabian Schumacher
Cytokines play a major role in lymphoid development. Defects of the common gamma chain (gamma(c)) or of the JAK3 protein in humans have been shown to result in a severe combined immune deficiency (SCID), with a profound defect in T and natural killer (NK)-cell development, whereas B-cell generation is apparently unaffected (T-B+NK-SCID). While extensive molecular and biochemical analysis of these patients has been instrumental in understanding better the biological properties of the gamma(c) and JAK3 protein, an unexpected phenotypic heterogeneity of gamma(c) and JAK3 deficiency has emerged, indicating the need for appropriate and extensive investigations even in patients with atypical presentations. At the same time, characterization of the defects has been instrumental in the development of novel therapeutic approaches, from in utero hematopoietic stem cell transplantation to gene therapy.
European Journal of Pediatrics | 2001
Reinhard Berner; Florian Schwoerer; Richard Fabian Schumacher; Milan Meder; Johannes Forster
Abstract. Respiratory syncytial virus (RSV) is the major cause of lower respiratory tract infections in infants. Since epidemiological data from Germany are scarce, a large retrospective hospital based analysis was performed. In the first part of the study, laboratory records were checked for RSV positive specimens from January 1988 to December 1997. A total of 1664 specimens were positive corresponding to 1171 episodes in 1064 patients; 88% were up to 4 years old and 47% up to 3 months old. The percentage of premature newborns from all patients 0–4 years old was 24%. The rate of nosocomial infection was 38%. The core RSV season began in December, lasted until April, and peaked in January and February. In the second part of the study, from April 1, 1997 to March 31, 1999, which encompassed two RSV winter seasons, patients with the ICD-9 coded discharge diagnoses of lower respiratory tract infections, bronchopulmonary dysplasia (BPD) and prematurity were analysed. Of the premature newborns, 25% were tested RSV positive at least once up to the age of 1 year, as were 52% of those with BPD. The rehospitalisation rate due to RSV infection was 22% in patients with BPD, and 8.9% in all premature newborns. Of patients with community acquired RSV infection, 12% required intensive care and 6% had to be ventilated mechanically. The mortality rates in both parts of the study were 0.8% and 0.7%, respectively. Conclusion: Respiratory syncytial virus infection in young children is also of major importance in Germany. Although the mortality rate is low, the high incidence and the severity of the disease in the particular risk group of premature infants with chronic lung disease contribute to a very high disease burden.
Prenatal Diagnosis | 1999
Silvia Giliani; Maurilia Fiorini; Patrizia Mella; F. Candotti; Richard Fabian Schumacher; Georg S. Wengler; Faustina Lalatta; A. Fasth; Raffaele Badolato; Alberto G. Ugazio; Alberto Albertini; Lucia Dora Notarangelo
We have performed prenatal diagnosis for Wiskott–Aldrich syndrome (WAS) in two unrelated families by direct gene analysis. Using a combined non‐radioactive analysis of single‐strand conformational polymorphism (SSCP) and heteroduplex formation (HD), followed by automated sequencing, we studied DNA from chorionic villus sampling (CVS), allowing the diagnosis of one affected and one healthy male at the 12th week of gestation. Copyright
Prenatal Diagnosis | 1999
Richard Fabian Schumacher; Patrizia Mella; F. Lalatta; Maurilia Fiorini; Silvia Giliani; Anna Villa; F. Candotti; Luigi D. Notarangelo
The JAK3 gene, encoding a tyrosine kinase functionally coupled to cytokine receptors which share the common gamma chain, has been identified as the defective gene for autosomal recessive severe combined immunodeficiency (SCID). Thus, specific mutational diagnosis has become possible. We screened all exons with a combined single strand conformational polymorphism and hetero‐duplex formation assay followed by sequence analysis to identify specific mutations in two families. This assay was used on chorionic villus sampling derived DNA in two fetuses from two unrelated families, where we found mutations in both parents. We were able to exclude the mutations in both fetuses by the 12th week of gestation. The described method for first‐trimester prenatal diagnosis of autosomal recessive T‐B+SCID provides a valid tool to aid in genetic counselling and possibly prenatal therapy in this disease. Copyright
British Journal of Haematology | 1998
F. Bozzi; G. Lefranc; Raffaele Badolato; Richard Fabian Schumacher; G. Khalil; J. Loiselet; S. Bresciani; J. J. O'Shea; P. Vezzoni; Lucia Dora Notarangelo; F. Candotti
Summary. Severe combined immunodeficiency (SCID) comprises a heterogenous group of disorders that are fatal unless treated by bone marrow transplantation (BMT). The most common form of SCID (T−B+ SCID) is due to mutations of either the common gamma chain (γc) or of γc‐coupled JAK3 kinase.
International Journal of Surgical Pathology | 2014
Giulia Petrilli; Luisa Lorenzi; Roberto Paracchini; Alessandro Ubiali; Richard Fabian Schumacher; Paolo Cabassa; Fabio Facchetti
This article reports the clinical and the histological features in a 7-year-old girl affected by common variable immunodeficiency (CVID) who developed multiple Epstein–Barr virus–associated tumors, represented by bilateral adrenal smooth muscle tumors (EBV-SMT) and multifocal diffuse large B-cell lymphoma. The EBV-SMTs showed features compatible with a benign or at least a low-malignant potential neoplasm. A peculiar feature observed in both EBV-SMTs was the occurrence of numerous lymphocytes intermingled with the spindle cells, which consisted of CD3+ CD5+ T-cells, with a predominant cytotoxic CD8+ component. Interestingly, EBV status differed in the neoplasms, since the EBV-SMTs were negative for LMP1 and positive for EBER, whereas the B-cell lymphoma expressed both EBV markers. Furthermore, EBV-LMP1 deletion was positive only in the EBV-SMTs, thus indicating that these tumors were the consequence of 2 distinct, EBV-dependent transformations. Similarly, lymphocyte clonality assay also showed different clonal bands in different sites (skin and nasal cavity), suggesting the development of intratumoral mutations. Finally, the authors review all 127 previously reported EBV-SMT, with discussion of their clinical and pathological features.
The Open Aids Journal | 2010
Francesco Castelli; Virginio Pietra; Ismael Diallo; Richard Fabian Schumacher
Significant progresses have been made in the last 5 years towards the ultimate goal to provide universal access to care for all HIV/AIDS patients needing antiretroviral treatment in resource-poor countries. However, many barriers are still to be overcome, including (●) cost of care for the individual, (●) stigma, (●) lack of qualified human resources and infrastructure, especially in the rural setting, (●) rescue drugs for failing patients and (●) pediatric formulations. Priority actions to be promoted if the fight against HIV/AIDS is to be successful include: (i) promoting access to care in the rural areas, (ii) strengthening of basic health infrastructures, (iii) waiving of users’ fee to get ARV, (iv) a larger variety of drugs, with particular regard to fixed dose combination third line drugs and pediatric formulations, (v) local quality training and (vi) high quality basic and translational research. While the universal access to HIV care is crucial in developing countries, a strong emphasis on prevention should be maintained along.
Journal of Pediatric Hematology Oncology | 2010
Francesca Lombardi; Anna Lucia Quitadamo; Lucia Dora Notarangelo; Alessandra Pelizzoni; Paola Accorsi; Franco Olivetti; Richard Fabian Schumacher
Background Vitamin B 12 deficiency is an uncommon disorder in infancy. Most cases are because of maternal deficiency resulting from insufficient storage and/or reduced intake and are generally seen in exclusively breast-fed infants. Accentuation of the hemolytic process has never been described in association with Varicella Zoster Virus (VZV) infections. Observation We describe a 9-months-old breast-fed infant with megaloblastic anemia secondary to maternal vitamin B 12 deficiency. He presented severe pancytopenia and regression of motor functions and developed hemolytic crisis during a VZV infection. Conclusions Nutritional cobalamin deficiency should be considered in anemic infants with a history of prolonged exclusive breastfeeding and delayed developmental milestones. VZV infection can trigger a hemolytic process in infants with severe megaloblastic anemia secondary to B12 deficiency. A normal mean corpuscular volume does not rule out megaloblastic anemia, when the condition is combined with severe hemolysis.
Journal of Pediatric Hematology Oncology | 2016
Elena Bardellini; Francesca Amadori; Richard Fabian Schumacher; Carmelita D’ippolito; Fulvio Porta; Alessandra Majorana
The aim of this study was to assess the efficacy of a solution composed by verbascoside, polyvinylpyrrolidone, and sodium hyaluronate (Mucosyte) in the treatment of chemotherapy-induced oral mucositi (OM). Patients between 5 and 18 years receiving chemotherapy for acute lymphoblastic leukemia and with OM grade 1 or 2 were randomized in group A (treated with Mucosyte, 3 mouthwashes/d per 8 d) and group B (treated with placebo, ie, an inert water-based solution, 3 mouthwashes/d per 8 d). The OM scoring was performed at day 1 (diagnosis of OM-T0), after 3 days of treatment (T1), and at day 8 (T2). Pain was evaluated through the visual analog scale with the same timing of OM measurement. A total of 56 patients were included (28 patients per group). Group A experienced a statistically significant decline of OM at T2 (P=0.0038); a statistically significant difference in pain reduction between 2 groups both at T1 and at T2 (P<0.005) was observed. The use of Mucosyte mouthwashes in children with chemotherapy-induced OM may be recommended as supportive therapy.
Journal of Medicine and The Person | 2013
Paolo Ernesto Villani; Alessandra Ricchini; Agnes Thombiano; Paul Ouedraogo; Donatella Cattarelli; Maria Paola Chiesi; Salvatore Pignatelli; Virginio Pietra; Autino Beatrice; Giovanna Mescoli; Richard Fabian Schumacher
Every year approximately 3.7 million neonatal deaths occur worldwide plus an additional 3.3 million stillbirths. Thirty-eight percent of all under 5-year-old deaths are concentrated in the first 28 days of life, 75 % of them in the first 7 days, making the first week the most dangerous period of a lifetime. Sub-Saharan Africa remains the most dangerous region to be born, here 1.16 million babies do not survive more than 28 days and every year, half a million babies die within the first 24 h of life [1]. Just three causes account for 86 % of those deaths: asphyxia, prematurity, and severe infections like tetanus, pneumonia, and diarrhea. In fact, it is estimated that serious infections represent 36 % of all neonatal deaths [2], making hygiene a priority. We here report our experience of 7 years of collaboration with the Neonatal Care Unit of the CMSC of Ouagadougou, Burkina Faso, one of the world’s poorest countries. Over 70 % of the 15.4 million inhabitants of Burkina Faso live below the poverty line. Schooling is sparse and health facilities are scarce [3]. Many people, especially children, are severely malnourished and do not have access to clean water, secure food supply, or medical care [4]. Many of these children die from treatable or even preventable infectious diseases such as diarrhea, pneumonia, malaria, HIV, TB, measles, and tetanus [5]. In 2004, the Center St. Camille comprised a maternity ward where more than 5,000 babies were delivered every year and a Neonatal Care Unit equipped with 12 incubators sent from Italy during the early 1980s. 1,200 babies were admitted each year to these incubators and to an additional 50 neonatal cots (all in one room). Oxygen was available from two 20 L pressure tanks. A small room for invasive procedures was available, and the center had a day-time laboratory and a small X-ray facility. Cardiologists equipped with sonography and fetal sonography were available twice weekly (Figs. 1, 2, 3, 4). Country-wide, the CMSC is the only unit specializing in the care of premature newborns and is known beyond the borders of Burkina Faso. In fact, patients come also from neighboring countries such as Mali, Mauritania, and Sierra Leone. Since 2005, Medicus Mundi Italy, a section of Medicus Mundi International, a Non-Governmental Organization (NGO), officially recognized by the WHO, as a specialized health organization, has an ongoing collaboration with the P. E. Villani (&) A. Beatrice G. Mescoli Dipartimento Materno-Infantile, UO TIN, Neonatologia e Nido, AO ‘‘C.Poma’’, Mantua, Italy e-mail: [email protected]