ABSTRACT
The following is a report of the unusual case of a multilocular cystic nephroma in an 8-year-old boy who was transferred to our unit with a palpable abdominal tumor. The patient suffered from thoracic pain and night sweating. The laboratory values were normal. Abdominal sonography showed a huge kidney tumor on the right side consisting of numerous small cysts transversed by irregular septa of variable thickness. The cysts had a diameter of 1 -5 mm; larger cysts of more than 1 cm in diameter were not able to be shown. In the center of the tumor a normal renal parenchyma was able to be shown. The tumor arose like a mushroom from the kidney. Color Doppler sonography showed good vascularity of the normal renal parenchyma while the tumor had only a few internal vessels. The tumor was surgically removed. The histologic diagnosis was cystic nephroma. Unusual features of this tumor were the small size of the numerous cysts similar to polycystic kidney disease and the mushroom-like growth of the tumor.
Subject(s)
Kidney Neoplasms/diagnostic imaging , Kidney Neoplasms/surgery , Nephroma, Mesoblastic/diagnostic imaging , Nephroma, Mesoblastic/surgery , Child , Humans , Kidney Neoplasms/pathology , Male , Nephroma, Mesoblastic/pathology , Treatment Outcome , Ultrasonography, Doppler, Color/methodsABSTRACT
BACKGROUND: Phenotypically, Turner syndrome (TS) is characterized by great variability, with short stature being the most constant incidence. Growth hormone therapy can achieve a significant improvement in the final size of the patient, which, however, is highly dependent on early diagnosis of the disease. The objective of our study was to determine the age at which the affected girls among our patient collective were diagnosed with TS and which symptoms were indicative. PATIENTS: The time of diagnosis and the reason for karyotyping were retrospectively determined for 117 girls with TS, who had presented at the Hospital for Children and Adolescents of the University of Erlangen, Germany, in the period between 1980 and 2002. RESULTS: Seven children were prenatally diagnosed with TS by amniocentesis and 27 children were postnatally diagnosed with the disease. TS was diagnosed during infancy in 10 children (median 0.2 years, range 0.1-0.9 yrs.), during early childhood in 4 children (median 1.7 years, range 1.1-2.2 yrs.), and during preschool age in 11 girls (median 5 years, range 4-5.8 yrs.). In 58 girls, i.e. almost 50%, TS was diagnosed after the age of 6: n=27 between the age of 6 and 11 (median 8.9 years, range 6.1-10.8 yrs.) and n=31 after the age of 11 (median 13 years, range 11.1-17 yrs.). Lymphedema (26 cases), dysmorphic symptoms (14 cases), and heart failures (6 cases) were the reason for karyotyping performed at birth and during infancy. With increasing age, TS was diagnosed based on short stature (66 of 73 cases). CONCLUSIONS: The available data shows that the majority of the patients were diagnosed late and that short stature was the most important diagnostic symptom.
Subject(s)
Turner Syndrome/diagnosis , Adolescent , Age Factors , Amniocentesis , Anabolic Agents/administration & dosage , Anabolic Agents/therapeutic use , Child , Child, Preschool , Drug Therapy, Combination , Female , Growth Hormone/administration & dosage , Growth Hormone/therapeutic use , Hospitalization , Humans , In Situ Hybridization, Fluorescence , Infant , Infant, Newborn , Karyotyping , Oxandrolone/administration & dosage , Oxandrolone/therapeutic use , Pregnancy , Retrospective Studies , Time Factors , Turner Syndrome/drug therapy , Turner Syndrome/geneticsABSTRACT
The amino acid sequences of two isozymes of catechol oxidase from sweet potatoes (Ipomoea batatas) were determined by Edman degradation of BrCN cleavage fragments of the native protein and by sequencing of amplified cDNA fragments. Sequence alignment and phylogenetic analysis of plant catechol oxidases revealed about 80% equidistance between the two I. batatas catechol oxidases and approximately 40--60% to catechol oxidases of other plants. When H(2)O(2) was applied as substrate the 39 kDa isozyme, but not the 40 kDa isozyme, showed catalase-like activity. The structure of the 40 kDa isozyme was modeled on the basis of the published crystal structure of the 39 kDa isozyme [T. Klabunde et al., Nat. Struct. Biol. 5 (1998) 1084]. The active site model closely resembled that of the 39 kDa isozyme determined by crystallography, except for a mutation of Thr243 (40 kDa isozyme) to Ile241 (39 kDa isozyme) close to the dimetal center. This residue difference affects the orientation of the Glu238/236 residue, which is thought to be responsible for the catalase-like activity of the 39 kDa isozyme for which a catalytic mechanism is proposed.
Subject(s)
Catechol Oxidase/metabolism , Plants/enzymology , Amino Acid Sequence , Base Sequence , Binding Sites , Catalase/metabolism , Catechol Oxidase/chemistry , Catechol Oxidase/genetics , DNA, Complementary/chemistry , Isoenzymes/chemistry , Isoenzymes/metabolism , Models, Chemical , Models, Molecular , Molecular Sequence Data , Molecular Weight , Polymerase Chain Reaction , Sequence Alignment , Spectrometry, Mass, Matrix-Assisted Laser Desorption-IonizationABSTRACT
The substrate specificity of catechol oxidase from Lycopus europaeus towards phenols is examined. The enzyme catalyzes the oxidation of o-diphenols to o-quinones without hydroxylating monophenols, the additional activity of tyrosinase. Substrates containing a -COOH group are inhibitors for catechol oxidase. The products of enzymic oxidation of caffeic acid were analyzed and isolated by HPLC with diode array detection. The neolignans of the 2,3-dihydro-1,4-benzodioxin type (3, 6-8), 6,7-dihydroxy-1-(3,4-dihydroxyphenyl)-2,3-dicarboxy-1,2-dihydro naphthaline (1) 6,7-dihydroxy-1-(3,4-dihydroxyphenyl)-3-carboxynaphthaline (5) and 2,6-bis-(3',4'-dihydroxyphenyl)-1-carboxy-3-oxacyclo-(3,0)-pent an-2-on-1-ene (4) were formed. A reaction mechanism for the formation of (1, 4 and 5) is discussed.