ABSTRACT
This technical note presents a variation of the stapled mucosal prolapsectomy for haemorrhoidal prolapse using the Lone Star Retractor. Our experience highlights the simplicity and usefulness of the technique which is based on the complete eversion of the prolapse carried out by the Lone Star Retractor, without using any kind of proctoscope and without stretching the anal sphincters. Postoperatively, rectal bleeding occurred in 4.7% of 127 cases, 9.8% of the patients complained of faecal urgency and only 3.9% had severe anal pain. None had faecal incontinence. This method simplifies the making of the purse-string suture as well as the use of the suturing device and achieves satisfactory clinical results.
Subject(s)
Hemorrhoids/surgery , Rectal Prolapse/surgery , Surgical Instruments , Adult , Aged , Aged, 80 and over , Female , Humans , Male , Middle Aged , Surgical Staplers , Treatment OutcomeSubject(s)
Amino Acid Substitution/genetics , Point Mutation/genetics , Proteins/genetics , Wiskott-Aldrich Syndrome/genetics , Alanine/genetics , Arginine/genetics , Chile , Glutamic Acid/genetics , Humans , Infant , Male , Tryptophan/genetics , Wiskott-Aldrich Syndrome/complications , Wiskott-Aldrich Syndrome ProteinABSTRACT
Three previously undescribed mutations of the glucose-6-phosphate dehydrogenase (G6PD) gene have been documented in patients with hereditary non-spherocytic hemolytic anemia (HNSHA). In none of the cases have we been able to obtain a sufficient volume of blood to characterize the residual enzyme biochemically. "G6PD Calvo Mackenna" was due to an A-->G transition in cDNA nucleotide 1138 creating an Aat II site and resulting in a substitution of valine for isoleucine at amino acid 380. "G6PD Riley" was due to a T-->C transition at cDNA nucleotide 1139 also changing the 380 isoleucine, in this case to a threonine. "G6PD Wisconsin" was due to an C-->G transversion in cDNA nucleotide 1177, destroying a Aci I site and resulting in a substitution of glycine for arginine at amino acid 393. All of these mutations were in exon 10, where mutations that cause HNSHA appear to be clustered. We present a list of the 83 mutations of G6PD that have been documented to the end of April, 1995.
Subject(s)
Exons/genetics , Glucosephosphate Dehydrogenase Deficiency/genetics , Glucosephosphate Dehydrogenase/genetics , Anemia, Hemolytic, Congenital Nonspherocytic/enzymology , Anemia, Hemolytic, Congenital Nonspherocytic/genetics , Child , Child, Preschool , DNA Mutational Analysis , DNA, Complementary/genetics , Erythroblastosis, Fetal/complications , Glucosephosphate Dehydrogenase Deficiency/classification , Glucosephosphate Dehydrogenase Deficiency/complications , Humans , Infant, Newborn , Male , Polymorphism, Single-Stranded ConformationalABSTRACT
A 1 year and 9 month old patient was admitted with ataxia. CBC showed a microcytic, hypocromic anemia with intense basophilic sttipling of erythrocytes. Lead poisoning was suspected and confirmed with a blood lead level of 167 micrograms/dl. The patient was treated with EDTA and BAL. It was discovered that family burned old car batteries for food cooking. Four members were intoxicated, with blood lead levels at or above 50 micrograms/dl.
