Outcomes of Biodegradable Temporizing Matrix for Soft Tissue Reconstruction of the Hand and Extremities.

Background: NovoSorb biodegradable temporizing matrix (BTM) is a novel, bilayer, synthetic skin substitute made of biodegradable polyurethane foam covered with a sealing membrane. BTM has demonstrated excellent outcomes in burn literature; however, few studies have been published for hand and extremity soft tissue reconstruction.

Methods: All patients who underwent extremity reconstruction with BTM from 2018 to 2023 were reviewed.

Laparoscopic management of symptomatic congenital diaphragmatic hernia of Morgagni in the adult.

Background: Currently, there is a relative paucity of literature regarding the management of symptomatic congenital diaphragmatic hernia of the foramen of Morgagni in the adult. This study aims to describe our unique surgical technique and outcomes in adult patients undergoing laparoscopic repair of symptomatic Morgagni hernia.

Methods: This is a retrospective review of adult patients from 2003 to 2020 who underwent a laparoscopic Morgagni hernia repair at our institution.

R-Spondin1 enhances wnt signaling and decreases weight loss in short bowel syndrome zebrafish.

Background: R-spondins, including R-spondin 1 (RSPO1), are a family of Wnt ligands that help to activate the canonical Wnt/β-catenin pathway, which is critical for intestinal epithelial cell proliferation and maintenance of intestinal stem cells. This proliferation underpins the epithelial expansion, or intestinal adaptation (IA), that occurs following massive bowel resection and short bowel syndrome (SBS). The purpose of this study was to identify if recombinant human RSPO1 (rhRSPO1) could be serially administered to SBS zebrafish to enhance cellular proliferation and IA.

Intermediate and long-term outcomes of a bowel management program for children with severe constipation or fecal incontinence.

Purpose: We sought to examine the long-term clinical success rates of a bowel management program (BMP) for children with severe constipation or fecal incontinence.

Methods: A single center review was conducted of children (≤18 years) enrolled in a BMP and followed in a colorectal specialty clinic (2011-2017). All patients who completed an initial week of the BMP were included.

Impedance sensing device enables early detection of pressure ulcers in vivo.

When pressure is applied to a localized area of the body for an extended time, the resulting loss of blood flow and subsequent reperfusion to the tissue causes cell death and a pressure ulcer develops. Preventing pressure ulcers is challenging because the combination of pressure and time that results in tissue damage varies widely between patients, and the underlying damage is often severe by the time a surface wound becomes visible. Currently, no method exists to detect early tissue damage and enable intervention.

Comparison of transrectal and transvaginal hybrid natural orifice transluminal endoscopic surgery partial nephrectomy in the porcine model.

Objective: To compare the feasibility of porcine transrectal (TR) and transvaginal (TV) hybrid natural orifice transluminal endoscopic surgery (NOTES) partial nephrectomy (PN), as NOTES nephrectomy has recently been performed in the porcine model.

Materials And Methods: A total of 10 female pigs (weight 45 kg) underwent TR (n = 5) or TV (n = 5) NOTES PN. The pneumoperitoneum was created by a periumbilical 12-mm trocar, through which a laparoscope was advanced for intra-abdominal visualization.

Non-operative treatment versus percutaneous drainage of pancreatic pseudocysts in children.

Purpose: The objective of this study was to characterize the clinical course and outcomes of children with pancreatic pseudocysts that were initially treated non-operatively or with percutaneous drainage.

Methods: A retrospective review of children with pancreatic pseudocysts over a 12-year period was completed. Categorical variables were compared using Fischer's exact method and the Student's t test was used to compare continuous variables.

Single-sperm typing.

This unit presents protocols for sperm isolation using two different methods, amplification of simple sequence-length polymorphisms (SSLP) and/or single nucleotide polymorphisms (SNP) from single cells or whole genome-amplified single cells using primer extension preamplification (PEP), and discusses the statistical analysis of sperm-typing recombination data. Newer methods for studying recombination over very short distances (a few kilobases) using total sperm DNA and allele-specific PCR are also discussed.

Linkage analysis in families with Joubert syndrome plus oculo-renal involvement identifies the CORS2 locus on chromosome 11p12-q13.3.

Joubert syndrome (JS) is an autosomal recessive developmental brain condition characterized by hypoplasia/dysplasia of the cerebellar vermis and by ataxia, hypotonia, oculomotor apraxia, and neonatal breathing dysregulation. A form of JS that includes retinal dysplasia and cystic dysplastic kidneys has been differentiated from other forms of JS, called either "JS type B" or "cerebello-oculo-renal syndrome" (CORS), but the genetic basis of this condition is unknown. Here, we describe three consanguineous families that display CORS.

The mutation properties of spinal and bulbar muscular atrophy disease alleles.

We studied the gene for the trinucleotide repeat disorder X-linked spinal and bulbar muscular atrophy (SBMA) to quantify the spectrum of mutations and gain insight into genetic anticipation. This analysis was performed using single sperm typing from an affected individual. This method allows the quantification of large numbers of meioses and therefore provides accurate information about genetic instability of the CAG repeat expansions which cause SBMA.

Meiotic segregation analysis of RB1 alleles in retinoblastoma pedigrees by use of single-sperm typing.

In hereditary retinoblastoma, different epidemiological studies have indicated a preferential paternal transmission of mutant retinoblastoma alleles to offspring, suggesting the occurrence of a meiotic drive. To investigate this mechanism, we analyzed sperm samples from six individuals from five unrelated families affected with hereditary retinoblastoma. Single-sperm typing techniques were performed for each sample by study of two informative short tandem repeats located either in or close to the retinoblastoma gene (RB1).

French Machado-Joseph disease patients do not exhibit gametic segregation distortion: a sperm typing analysis.

Segregation distortion has been reported to occur in a number of the trinucleotide repeat disorders. On the basis of a sperm typing study performed in patients of Japanese descent with Machado-Joseph disease (MJD), it was reported that disease alleles are preferentially transmitted during meiosis. We performed a sperm typing study of five MJD patients of French descent and analysis of the pooled data shows a ratio of mutant to normal alleles of 379:436 (46.

Direct estimation of the recombination frequency between the RB1 gene and two closely linked microsatellites using sperm typing.

In this study, single sperm typing has been used for high-resolution recombination analysis between the retinoblastoma gene and two closely linked extragenic microsatellites (D13S284 and D13S1307). The analysis of 1198 single sperm from three donors allowed the determination of recombination fractions between RB1.20 and D13S284 and RB1.

Analysis of germline mutation spectra at the Huntington's disease locus supports a mitotic mutation mechanism.

Trinucleotide repeat disease alleles can undergo 'dynamic' mutations in which repeat number may change when a gene is transmitted from parent to offspring. By typing >3500 sperm, we determined the size distribution of Huntington's disease (HD) germline mutations produced by 26 individuals from the Venezuelan cohort with CAG/CTG repeat numbers ranging from 37 to 62. Both the mutation frequency and mean change in allele size increased with increasing somatic repeat number.

The effect of FMR1 CGG repeat interruptions on mutation frequency as measured by sperm typing.

Fragile X syndrome results from the unstable expansion of a CGG repeat within the FMR1 gene. Three classes of FMR1 alleles have been identified, normal alleles with 6-60 repeats, premutations with 60-200 repeats, and full mutations with > 230 repeats. Premutations are exquisitely unstable upon transmission.

Analysis of meiotic segregation, using single-sperm typing: meiotic drive at the myotonic dystrophy locus.

Meiotic drive at the myotonic dystrophy (DM) locus has recently been suggested as being responsible for maintaining the frequency, in the human population, of DM chromosomes capable of expansion to the disease state. In order to test this hypothesis, we have studied samples of single sperm from three individuals heterozygous at the DM locus, each with one allele larger and one allele smaller than 19 CTG repeats. To guard against the possible problem of differential PCR amplification rates based on the lengths of the alleles, the sperm were also typed at another closely linked marker whose allele size was unrelated to the allele size at the DM locus.

Single sperm analysis of the trinucleotide repeats in the Huntington's disease gene: quantification of the mutation frequency spectrum.

The CAG triplet repeat region of the Huntington's disease gene was amplified in 923 single sperm from three affected and two normal individuals. Average-size alleles (15-18 repeats) showed only three contraction mutations among 475 sperm (0.6%).

Dispersion and insertion polymorphism in two small subfamilies of recently amplified human Alu repeats.

Newly isolated members of two recently propagated (young) Alu subfamilies were examined for sequence diversity and insertion polymorphism in primate genomes. The smaller subfamily (termed HS-2) is comprised of approximately 5 to 25 members, while the larger (termed Sb2) includes approximately 125 to 600 members. Individual members of these Alu subfamilies share distinguishing sets of diagnostic mutations, are well-conserved relative to each other, and have expanded in the human lineage.

Studying human mutations by sperm typing: instability of CAG trinucleotide repeats in the human androgen receptor gene.

Trinucleotide repeat mutations of normal alleles at the human androgen receptor locus were studied by typing approximately 4,300 sperm. Control experiments established that the mutation events were of germline origin. The mutation rate for 20-22 repeat alleles was similar to that shown by family analysis.

Mobility of short interspersed repeats within the chimpanzee lineage.

The PV subfamily of Alu repeats in human DNA is largely composed of recently inserted members. Here we document additional members of the PV subfamily that are found in chimpanzee but not in the orthologous loci of human and gorilla, confirming the relatively recent and independent expansion of this Alu subfamily in the chimpanzee lineage. As further evidence for the youth of this Alu subfamily, one PV Alu repeat is specific to Pan troglodytes, whereas others are present in Pan paniscus as well.

Phylogenetic isolation of a human Alu founder gene: drift to new subfamily identity [corrected].

A severe bottleneck in the size of the PV Alu subfamily in the common ancestor of human and gorilla has been used to isolate an Alu source gene. The human PV Alu subfamily consists of about one thousand members which are absent in gorilla and chimpanzee DNA. Exhaustive library screening shows that there are as few as two PV Alus in the gorilla genome.

Paucity of novel short interspersed repetitive element (SINE) families in human DNA and isolation of a novel MER repeat.

An extensive compilation of renaturation rate data for human DNA is presented as an empirical guide for genomic hybridization studies and to document as accurately as possible the repetitive sequence content of the human genome. Approximately 15% of the genome renatures with heterogeneous rates characteristic of moderately repetitive sequences. Cross hybridization studies of this fraction with known repetitive sequences show that it is largely composed of known moderately repetitive sequences and contaminating highly repetitive sequences.

Unusual sequences of two old, inactive human Alu repeats.

Two human Alu repeats terminating in an oligo(T) run rather than the usual A-rich 3' tail were isolated by library screening. Base sequence comparisons reveal that these unusual Alus are also exceptionally divergent from other Alu family members implying that they are evolutionarily old. Unlike other members of the family, they are not transcribed in vitro by RNA polymerase III (Pol III) suggesting a partial explanation for how Alu source genes might become inactive with age.