The double puncture: an effective percutaneous technique for removing complex, multiple renal calculi

Percutaneous nephrostolithotomy, which can require a double puncture, is presently the method of choice in our institution for the removal of renal stones. Patients that underwent this procedure were evaluated to identify the possible reasons for the double puncture. Of 200 patients evaluated, 14 needed a second tract. The three variables that determined whether a second puncture was needed, in order of importance, were number and size of the stones, with second tracts needed in patients with multiple stones and staghorn calculi; anatomical variations of the renal collecting system itself, with bifid systems the most significant anatomic variation; and the dexterity of the radiologist in performing the puncture and the ability of the urologist to extract the stone. Second tracts were needed more frequently in patients who presented with stones in both the lower and middle poles of the collecting systems.     

Evaluation of common genetic variants in 82 candidate genes as risk factors for neural tube defects

ABSTRACT: BACKGROUND: Neural tube defects (NTDs) are common birth defects (~1 in 1000 pregnancies in the US and Europe) that have complex origins, including environmental and genetic factors. A low level of maternal folate is one well-established risk factor, with maternal periconceptional folic acid supplementation reducing the occurrence of NTD pregnancies by 50-70%. Gene variants in the folate metabolic pathway (e.g., MTHFR rs1801133 (677 C > T) and MTHFD1 rs2236225 (R653Q)) have been found to increase NTD risk. We hypothesized that variants in additional folate/B12 pathway genes contribute to NTD risk. METHODS: A tagSNP approach was used to screen common variation in 82 candidate genes selected from the folate/B12 pathway and NTD mouse models. We initially genotyped polymorphisms in 320 Irish triads (NTD cases and their parents), including 301 cases and 341 Irish controls to perform case-control and family based association tests. Significantly associated polymorphisms were genotyped in a secondary set of 250 families that included 229 cases and 658 controls. The combined results for 1441 SNPs were used in a joint analysis to test for case and maternal effects. RESULTS: Nearly 70 SNPs in 30 genes were found to be associated with NTDs at the p < 0.01 level. The ten strongest association signals (p-value range: 0.0003-0.0023) were found in nine genes (MFTC, CDKN2A, ADA, PEMT, CUBN, GART, DNMT3A, MTHFD1 and T (Brachyury)) and included the known NTD risk factor MTHFD1 R653Q (rs2236225). The single strongest signal was observed in a new candidate, MFTC rs17803441 (OR = 1.61 [1.23-2.08], p = 0.0003 for the minor allele). Though nominally significant, these associations did not remain significant after correction for multiple hypothesis testing. CONCLUSIONS: To our knowledge, with respect to sample size and scope of evaluation of candidate polymorphisms, this is the largest NTD genetic association study reported to date. The scale of the study and the stringency of correction are likely to have contributed to real associations failing to survive correction. We have produced a ranked list of variants with the strongest association signals. Variants in the highest rank of associations are likely to include true associations and should be high priority candidates for further study of NTD risk.     

Mongolian Spots in Sjögren-Larsson Syndrome

Letters to the Editor are welcomed for publication (subject to editing). Letters must be signed by all authors, typewritten double spaced, and must not exceed two pages of text including references. Two copies of all letters should be submitted along with one copy on disk. Letters should not duplicate material submitted or published in other journals. Prepublication proofs will not be provided.     

Traumatic Amputation of a Supernumerary Digit: A 16-Year-Old Boy's Perspective of Suture Ligation

Abstract:   Traditionally, the duplicated digit in an infant with polydactyly is managed by suture ligation and the digit is allowed to auto-amputate. However, painful neuromas may result from this commonly used technique and sharp excision has been suggested as a superior alternative. We present a case of a 16-year-old male who requested revascularization after a traumatic partial amputation of a supernumerary digit on his left hand. He requested revascularization because suture ligation of a duplicated digit on his right hand as an infant had resulted in a neuroma and considerable pain.     

Onychomycosis and AIDS

The results of a study on onychomycosis in AIDS related complex and AIDS patients presenting for dermatology consultation at an infectious diseases department are reported. The clinical results showed that most patients presented a proximal white superficial onychomycosis. The association with a clinical interdigital involvement was rare, but the association with a mycotic plantar keratoderma was more frequent. The laboratory results showed that dermatophytes were the most frequent etiologic agents, especially Trichophyton rubrum (58%). Although most of these patients presented an oral candidiasis, Candida albicans was isolated only in seven patients' nails. Surprisingly, Pityrosporum ovale was the only etiologic organism that was found in two patients. This result was confirmed with a histologic examination.