Rainer M. Rossi

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PURPOSE We conducted a phase II study designed to evaluate the activity, safety, and tolerability of docetaxel (Taxotere: Rhône-Poulenc Rorer Pharmaceuticals Inc, Collegeville, PA) in patients with advanced, incurable, or recurrent squamous cell carcinoma of the head and neck (SCCHN) who had not received prior palliative chemotherapy. PATIENTS AND METHODS(More)
Although most components of the mitochondrial translation apparatus are encoded by nuclear genes, all known molecular defects associated with impaired mitochondrial translation are due to mutations in mitochondrial DNA. We investigated two siblings with a severe defect in mitochondrial translation, reduced levels of oxidative phosphorylation complexes(More)
OBJECTIVE To investigate the growth of children from pregnancies with gestational diabetes mellitus (GDM) and its association with antenatal maternal, fetal, and recent anthropometric parameters of mother and father. RESEARCH DESIGN AND METHODS In 324 pregnancies of Caucasian women with GDM, BMI before pregnancy, maternal glycemic values, and measurements(More)
OBJECTIVE To characterize a new lethal fetal and early postnatal variant of adenylosuccinate lyase (ADSL) deficiency. STUDY DESIGN This was a retrospective analysis of 6 patients with very early presentation of ADSL deficiency. RESULTS Most of the 6 patients had impaired intrauterine growth, microcephaly, fetal hypokinesia, and a lack of fetal heart(More)
OBJECTIVE Hypospadias is a frequent congenital anomaly but in most cases an underlying cause is not found. Steroidogenic factor 1 (SF-1, NR5A1, Ad4BP) is a key regulator of human sex development and an increasing number of SF-1 (NR5A1) mutations are reported in 46,XY disorders of sex development (DSD). We hypothesized that NR5A1 mutations could be(More)
 Renal complications in children with malignancies primarily arise from renal parenchymal tumors, ”tumor lysis syndrome,” and malignant infiltration or obstruction of the urinary tract. Therapy-associated renal side effects may develop following surgical and cytostatic treatment or be induced by radiotherapy. Clinically, both acute renal failure, for(More)
This study describes the discovery of a new inherited disorder of glycosylation named "CDG-Ik." CDG-Ik (congenital disorder of glycoslyation type Ik) is based on a defect of human mannosyltransferase I (MT-I [MIM 605907]), an enzyme necessary for the elongation of dolichol-linked chitobiose during N-glycan biosynthesis. Mutations in semiconserved regions in(More)
We describe five cases of parasitic sinusitis and otitis in patients infected with human immunodeficiency virus (HIV) and review 14 reported cases. The pathogens identified in our group of patients included agents such as Microsporidium, Cryptosporidium, and Acanthamoeba species. The clinical features common to these patients included a long history of HIV(More)
Survival for up to 101 days is reported in an infant with congenital alveolar capillary dysplasia (ACD) with misalignment of pulmonary veins using inhaled nitric oxide thereby offering the prospect of survival until lung transplantation can be performed. The patient was a 3040 g Caucasian girl delivered at 39 weeks gestation. She developed cyanosis,(More)
BACKGROUND Tolerating higher partial pressure of carbon dioxide (pCO2) in mechanically ventilated, extremely low birthweight infants might reduce ventilator-induced lung injury and bronchopulmonary dysplasia. We aimed to test the hypothesis that higher target ranges for pCO2 decrease the rate of bronchopulmonary dysplasia or death. METHODS In this(More)