ABSTRACT
This is the first study analyzing concomitantly osteoprotegerin (OPG)/receptor activator of nuclear factor kappa B ligand (RANKL) polymorphisms and OPG/RANKL serum levels and their association with bone mineral density (BMD), vertebral fractures, and vascular aortic calcification in a cohort of 800 subjects in community-dwelling older individuals. INTRODUCTION: Osteoprotegerin (OPG) and RANKL play an important role in osteoclast activation and differentiation as well as in vascular calcification. At present, there are no studies of OPG or RANKL gene polymorphisms in Brazilian older populations. The aim of this study was to evaluate OPG/RANKL polymorphism and their association with vertebral fractures (VFs) and aortic calcification. METHODS: Eight hundred subjects (497 women/303 men) were genotyped for the OPG 1181G>C (rs2073618), 163C>T (rs3102735), 245T>G (rs3134069), and 209G>A (rs3134070) and RANKL A>G (rs2277438) single-nucleotide polymorphisms (SNPs). VFs were evaluated by spine radiography (Genant's method). Aortic calcification was quantified using Kauppila's method. RESULTS: The isolated genotype analyses and single-allele frequency data showed association of OPG 163C, 245G, and 209A alleles with presence of VFs (P < 0.05). Multiple logistic regression of subjects with absence of VFs vs. those with VFs (grades II/III) revealed only OPG 209A homozygosity as a risk factor for higher-grade VFs (odds ratio (OR) = 4.17, 95 % CI 1.03-16.93, P = 0.046). Regarding aortic calcification, the isolated genotype analysis frequency data revealed a significant association of OPG 1181G, 163C, 245G, and 209A alleles with absent aortic calcification (P < 0.05). Multiple logistic regression data confirmed that the OPG 209A allele was protective for aortic calcification (OR = 0.63, 95 % CI 0.45-0.88, P = 0.007) and the OPG 1181C allele was a risk factor for aortic calcification (OR = 1.26, 95 % CI 1.00-1.58, P = 0.046). CONCLUSION: This study showed that the OPG 209AA genotype was a risk factor for higher-grade VFs, the OPG 209A allele was protective for aortic calcification, and the OPG 1181C was a risk factor for aortic calcification, supporting the involvement of OPG polymorphisms in the analyzed phenotypes and the concept that the related pathogenesis is multifactorial.
Subject(s)
Aorta/pathology , Calcinosis/pathology , Osteoprotegerin/genetics , RANK Ligand/genetics , Spinal Fractures/genetics , Aged , Aging , Bone Density , Brazil , Female , Humans , Male , Osteoprotegerin/blood , Polymorphism, Single Nucleotide , RANK Ligand/bloodABSTRACT
Ten critically ill newborn infants presenting with documented septicemia were treated with antibiotics and supportive measures that included assisted ventilation, large blood transfusions and other volume expanders, sodium bicarbonate, and vasoactive drugs. Upon failure of the above treatment to improve the infants' rapidly deteriorating condition and the development of sclerema, exchange transfusions with fresh whole blood were performed and repeated up to four times. Seven of the ten infants showed immediate improvement and ultimately survived. IgM and IgA rose consistently with exchange transfusions. We postulate that these infants improved following exchange transfusion as the result of the removal of endotoxins, improvement of perfusion and of tissue oxygenation, decrease of hemorrhagic complications, and enhancement of the humoral and cellular inflammatory response. The development of sclerema in septicemic newborn infants continues to be an ominous sign despite the use of antibiotics and supportive measures. Our data suggest that exchange transfusions decrease the mortality of this group of critically ill infants.
Subject(s)
Exchange Transfusion, Whole Blood , Infant, Newborn, Diseases/therapy , Sepsis/therapy , Anti-Bacterial Agents/therapeutic use , Blood Transfusion , Complement System Proteins/analysis , Humans , Immunoglobulins/analysis , Infant, Newborn , Plasma Substitutes/therapeutic use , Sclerema Neonatorum/complications , Sclerema Neonatorum/therapy , Sepsis/complicationsABSTRACT
We here report the clinical findings and management of 9 consecutive cases of chylothorax, 5 of which occurred spontaneously. One cases followed cardiac surgery. Three cases occurred in low-birth-weight, premature infants concurrently with other symptoms of the superior vena cava syndrome secondary to central intravenous nutrition. To our knowledge, this is the first description of chylothorax as a possible complication of total parenteral nutrition in newborn babies. In our treatment of chylothorax in the newborn, we employed diagnostic thoracentesis followed by chest tube drainage and a medium chain triglyceride diet.
Subject(s)
Chylothorax/etiology , Infant, Newborn, Diseases/etiology , Chylothorax/surgery , Drainage , Female , Humans , Infant, Low Birth Weight , Infant, Newborn , Infant, Premature, Diseases/etiology , Male , Parenteral Nutrition/adverse effects , Postoperative Complications/etiology , Transposition of Great Vessels/surgeryABSTRACT
A low-birth-weight near-term male infant was found to have a non-familial 47,XY chromosome complement with an extra medium-sized metacentric chromosome slightly larger than a number 16. By Giemsa-trypsin (G-banding) this extra chromosome was determined to be a number 9 with deletion of approximately half of the long arm at region q 22. Chromosome studies on the clinically normal 38-year-old mother showed a balanced translocation with the deleted portion attached onto the distal end of a number 8 short arm, i.e. 46,XX,t(8;9)(p23;q22). Nondisjunction during meiosis of this woman's normal and deleted number 9 chromosomes is the basis of the child's abnormalities. One half-sibling of the child has a balanced translocation similar to that in the mother. Chromosome analyses on 4 others of the child's maternal half-siblings and on the maternal grandmother all showed normal patterns.
