Search PubMed⌕ Search

SEARCH · Search PubMed

Results for “laterality defects”

Search indexed PubMed citations on genomics, clinical trials, systematic reviews and public health. Explore titles, authors and supplied subject terms, then open the PubMed record.

Quote a phrase for an exact phrase match. Source license links do not imply unrestricted reuse.

At least 73 records · Page 4Linked to original sources

Modified Burow's wedge flap for upper lateral lip defects.

BACKGROUND: There are fundamental concepts we use in managing surgical defects. Whether planning a primary closure or a local flap, we frequently modify the basic design to maximize aesthetic outcomes, taking into consideration a number of factors including the location of the defect and tissue availability. OBJECTIVE: We describe a modified Burow's wedge flap for upper lateral lip defects. METHOD: Report of an illustrated case. RESULT: A patient with an upper lip defect was successfully reconstructed using the modified Burow's wedge flap, where the Burrow's wedge is placed on the mucocutaneous lip. CONCLUSION: Certain modifications of commonly used reconstructive techniques can be utilized in specific situations to enhance cosmesis. For the Burow's wedge flap, the dermatologic surgeon has several options in placing the Burow's triangle. This is an example of how alternatives in a closure can be used depending on the laxity of the skin and the size of the defect. Advantages and disadvantages of this alternative placement of the Burow's triangle are discussed.

Aged↗

Time-resolved fluorescence and fourier transform infrared spectroscopic investigations of lateral packing defects and superlattice domains in compositionally uniform cholesterol/phosphatidylcholine bilayers.

Time-resolved fluorescence and Fourier transform infrared spectroscopies were used to investigate the lateral organization of lipids in compositionally uniform and fully equilibrated 1-palmitoyl-2-oleoyl-phosphatidylcholine/cholesterol (POPC/CHOL) liposomes prepared by a recently devised low-temperature trapping method. Independent fluorescence decay lifetime and rotational dynamics parameters of diphenylhexatriene (DPH) chain-labeled phosphatidylcholine (DPH-PC) in these liposomes were recovered from the time-resolved fluorescence measurements as a function of cholesterol molar fraction (X(CHOL)) at 23 degrees C. The results indicate significantly greater lifetime heterogeneity, shorter average lifetime, rotational correlation time, and lower order parameter of the DPH moiety at X(CHOL) approximately 0.40 and 0.50 as compared to the adjacent cholesterol concentrations. Less prominent changes were also detected at, for example, X(CHOL) approximately 0.20 and 0.33. These X(CHOL)'s coincide with the "critical" X(CHOL)'s predicted by the previously proposed superlattice (SL) model, thus indicating that POPC and cholesterol molecules tend to form SL domains where the components tend to be regularly distributed. The data also support another prediction of the SL model, namely that lateral packing defects coexist with the ordered SL domains. It appears that unfavorable interaction of the DPH-moiety of DPH-PC with cholesterol results in a preferential partition of DPH-PC to the defect regions. Fourier transform infrared analysis of the native lipid O=P=O, C=O, and C-H vibrational bands of POPC/CHOL liposomes in the absence of DPH-PC revealed an increase in the conformational order of the acyl chains and a decrease in the conformational order (or increased hydration) of the interfacial and headgroup regions at or close to the predicted critical X(CHOL)'s. This provides additional but probe-independent evidence for SL domain formations in the POPC/CHOL bilayers. We propose that the defect regions surrounding the putative SL domains could play an important role in modulating the activity of various membrane-associated enzymes, e.g., those regulating the lipid compositions of cell membranes.

Algorithms↗

Vaginal reconstructive surgery for female incontinence and anterior vaginal-wall prolapse.

The surgical procedure of choice to correct stress urinary incontinence using a vaginal approach depends not only on the anatomic origin of the incontinence (hypermobility or intrinsic sphincter dysfunction) but also on the degree of coexistent anterior vaginal wall prolapse. The grade of coexistent cystocele and the finding of a central or lateral defect are important observations that help the surgeon plan the optimum surgical approach. Grade 4 cystocele with central and lateral defects represents the most severe form of anterior vaginal wall prolapse. In this case, the surgical goals are to correct both central and lateral defects, as well as hypermobility related to the mid-urethra and bladder neck.

Female↗

Intracrystalline structure of enamel crystals affected by caries.

Enamel crystals in the demineralized zones in early caries lesions of human teeth were observed by high-resolution electron microscopy. The enamel crystals frequently exhibited perforations in their centers and defects of various sizes on their lateral surfaces. There were a number of small electron-lucent spots, suggesting that the dissolution of crystals had taken place there. These spots were in especially large numbers near the central dark line. The central perforations, the lateral defects, and the small spots had a common habit which formed regularly along the crystalline a- and b-axes. In many cases, when the central dark line was seen, the perforations were located a few unit cells away from the line. The perforations seem to result from a fusion of small spots, which enlarge by involving other small spots. The lateral defect seemed to enlarge by removal of unit cells and progression along the a- and b-axes. In the regions where the small spots were present, however, the enlargement of the defects also progressed involving the spots. The central dark line seems to be rather resistant to dissolution. One of the main factors for the central perforation of the crystals is thought to be the presence there of especially large numbers of defective sites.

Adult↗

Y-shape hard palate mucoperiosteal graft and V-Y advancement flap in the reconstruction of a combined defect involving lateral canthus and upper and lower eyelids.

Curative ablation of a baso-squamous cell carcinoma of lateral cantus and both eyelids resulted in a complex full-thickness defect of upper and lower eyelids, lateral canthal area, and lateral canthal tendon. The reconstruction of the defect was performed in a single stage using a Y-shape hard palate mucoperiosteal graft and a Y-shape skin flap advanced from the temporal side of the defect on its subcutaneous pedicle. The graft donor site healed spontaneously and the flap donor site was closed primarily. A durable and stable coverage of the defect could be achieved with minimal donor site morbidity.

Aged↗

The RNA splicing factor PRPF8 is required for left-right organiser cilia differentiation and determination of cardiac left-right asymmetry via regulation of Arl13b splicing.

Cilia function in the left-right organizer (LRO) is critical for determining internal organ asymmetry in vertebrates. To further understand the genetics of left-right asymmetry, we isolated a mouse mutant with laterality defects, l11Jus27, from a random mutagenesis screen. l11Jus27 mutants carry a missense mutation in the pre-mRNA processing factor, Prpf8. cephalophŏnus (cph) mutant zebrafish, carrying a protein truncating mutation in prpf8, phenocopy the laterality defects of l11Jus27 mutants. Prpf8 mutant mouse and fish embryos have increased expression of an alternative transcript encoding the cilium-associated protein, ARL13B, that lacks exon 9. In zebrafish, over-expression of the arl13b transcript lacking exon 9 perturbed cilium formation and caused laterality defects. The shorter ARL13B protein isoform lacked interactions with intraflagellar transport proteins. Our data suggest that PRPF8 plays a prominent role in LRO cilia by through the regulation of alternative splicing of ARL13B, thus uncovering a new mechanism for cilia-linked developmental defects.

ARL13B↗

Further Support for Association of DAND5 with Autosomal Recessive Laterality Disorders.

BACKGROUND: Laterality defects are rare congenital malformations that encompass congenital heart defects (CHDs) together with abnormalities of visceral organ arrangement (situs inversus or situs ambiguous). These defects may be isolated or part of a syndromic presentation with multisystem involvement. While over 50 genes have been implicated in laterality disorders, across multiple modes of inheritance, many cases remain molecularly undiagnosed. We sought to elucidate the molecular basis of dextrocardia, CHDs and visceral heterotaxy in two unrelated individuals of Arab-Muslim descent. METHODS: Detailed clinical phenotyping and exome sequencing (ES) were performed for each of the probands, followed by familial segregation analysis. RESULTS: ES revealed a shared homozygous variant in the Dan Domain Family Member 5 (DAND5) gene (NM_152654.3): c.396_397dup, p.(Tyr133SerfsTer11). DAND5 encodes a member of the Cerberus-related DAN protein family, which is involved in the establishment of left body asymmetry. This frameshift variant introduces a premature stop codon within the final exon, which is predicted to escape nonsense-mediated decay (NMD), resulting in a truncated protein lacking the functional DAN domain. CONCLUSIONS: DAND5 has recently been suggested as a candidate gene in heterotaxy and CHDs. Our findings further support biallelic loss of function variants in DAND5 autosomal recessive laterality defects.

Female↗

The Use of Unilateral Pericranial Flaps for the Closure of Difficult Medial Orbital and Upper Lateral Nasal Defects.

We present 3 cases in which a unilateral pericranial flap was used to repair defects in the medial orbital and upper lateral nasal areas. All three patients had undergone previous excision of malignant tumors from the upper septum and ethmoid areas. Postoperatively, they all received radiation and then developed wound breakdown with fistula formation, particularly in the area of the incisional site. All 3 patients had undergone previous unsuccessful repair of the fistula. Closure of such fistulas requires well-vascularized nonradiated tissue, which can be provided by a unilateral pericranial flap. This flap is flexible, thin, and well suited to the sinonasal area. Use of this flap avoids the need for a paramedian forehead or other musculocutaneous flap. Cosmetic results were excellent, and there have been no flap breakdowns or complications to date.

Journal Article↗

Pedicled internal oblique rotational muscle flap for reconstruction of lateral pelvic defects: report of 4 cases.

Various local and distant flaps have been used to repair pelvic defects, including sartorius, rectus abdominis, rectus femoris, tensor fascia lata, vastus lateralis, gracilis, and omentum, each with benefits and disadvantages. The pedicled internal oblique rotational muscle flap has been described to cover pelvic wounds but may be underutilized. We present our experience with 5 pedicled internal oblique flaps in 4 patients (3 male, 1 female). The mean patient age was 32 years (23-47 years), and the mean follow-up was 8 months. All patients required coverage of the lateral pelvis after failure of conservative measures. There were no major complications. One patient experienced decreased sensation in the lateral femoral cutaneous nerve distribution, which resolved fully within 3 months. The internal oblique muscle provides local soft-tissue coverage with a predictable blood supply, and its proximity to the pelvis offers an alternative for reconstruction of lateral pelvic defects, with minimal associated morbidity.

Adult↗

A new twist to the nasolabial flap for reconstruction of lateral alar defects.

The nasolabial flap remains the favored technique for alar and lateral nasal reconstruction. Results with currently popular techniques tend to be inartistic and aesthetically disappointing. Improved results can be achieved, however, by a technique using a medially based nasolabial turnover flap for lining with a distal extension providing the cover. Reconstruction of the ala begins by designing a nasolabial flap with its base as close as possible to the site of the proposed ala. The flap is incised to the required margins, carrying 2 to 3 mm of underlying fat; then, hinged on its base, the flap is flipped over medially like the page of a book. As the proximal flap is sutured to the lining side of the defect, the distal flap gracefully twists 90 degrees and is then folded on itself to form the external surface of the ala. The donor site is closed primarily. With this procedure, a natural-appearing and appropriately positioned ala may be reconstructed in one step, although a second procedure may be helpful to sculpture the margin or precisely position the alar base.

Aged↗

Mutations of the Connexin43 gap-junction gene in patients with heart malformations and defects of laterality.

BACKGROUND: Gap junctions are thought to have a crucial role in the synchronized contraction of the heart and in embryonic development. Connexin43, the major protein of gap junctions in the heart, is targeted by several protein kinases that regulate myocardial cell-cell coupling. We hypothesized that mutations altering sites critical to this regulation would lead to functional or developmental abnormalities of the heart. METHODS: Connexin43 DNA from 25 normal subjects and 30 children with a variety of congenital heart diseases was amplified by the polymerase chain reaction and sequenced. Mutant DNA was expressed in cell culture and examined for its effect on the regulation of cell-cell communication. RESULTS: The 25 normal subjects and 23 of the 30 children with heart disease had no amino acid substitutions in connexin43. All six children with syndromes that included complex heart malformations had substitutions of one or more phosphorylatable serine or threonine residues. Four of these children had two independent mutations, suggesting an autosomal recessive disorder. Five of these children had substitutions of proline for serine at position 364. A seventh child, with a different heart condition, also had a point mutation in connexin43. Transfected cells expressing the Ser364Pro mutant connexin43 sequence showed abnormalities in the regulation of cell-cell communication, as compared with cells expressing normal connexin43. CONCLUSIONS: Mutations in the connexin43 gap-junction gene, which lead to abnormally regulated cell-cell communication, are associated with visceroatrial heterotaxia.

Adolescent↗

Correction of the unilateral cleft lip nose.

The cleft lip nasal deformity is best repaired secondarily in teenagers. Some more severe cases may be repaired during childhood. Optimal repair requires adequate exposure, best obtained with transcolumellar flying-bird incisions. The major anatomic defect, the misplaced lateral crus, needs to be advanced to a normal position. The vestibular lining of the lateral crus should remain attached to add circulation and support, especially when scoring of the cartilage is needed. The lateral defect left after advancement of the lateral crus should be closed with sutures. Accessory procedures, including septoplasty, augmentation or reshifting of the alar base attachment, and occasionally, cartilage grafts, are critical to achieving an aesthetic result. Fifty-three patients operated on using the technique described are reviewed.

Adolescent↗

Prenatal detection of anterior abdominal wall defects with US.

The size and position of an anterior abdominal wall defect, its contents, and its association with other anomalies are features that can be diagnosed in utero with ultrasound and that allow a differential diagnosis to be made. The correct prenatal diagnosis is extremely important for patient management. The key feature for sonographically distinguishing these conditions is the position of the defect in relation to the umbilical cord insertion. Omphaloceles and pentalogy of Cantrell usually involve a midline defect at the umbilical cord insertion. Gastroschisis most frequently consists of a small, right-sided paraumbilical defect. Eccentric, large lateral defects are typically present in limb-body wall complex or amniotic band syndrome. Bladder and cloacal exstrophy involve the infraumbilical region. In addition, the size of the defect, the organs eviscerated, the presence of membranes or bands, and any associated abnormalities help determine the correct diagnosis. Increased knowledge of these uncommon fetal conditions should result in better detection, more accurate diagnosis, and improved management of anterior abdominal wall defects.

Abdominal Muscles↗

Distally-based peroneus brevis muscle flap: a successful way of reconstructing lateral soft tissue defects of the ankle.

Sixteen distally-based peroneus brevis muscle flaps were used to cover soft tissue defects in the lateral side of the ankle. The defect in 13 cases was on the lateral malleolus, in two on the lateral side of the calcaneus, and in one case in the Achilles tendon. The patients were all followed up until full recovery (mean 7.6 months, range 1.5-22 months). One flap failed to cover the defect and was replaced with a microvascular latissimus dorsi flap. In three cases minor revision and new skin grafting of the distal end of the flap was necessary. In 15 of the 16 patients the distally-based peroneus brevis muscle was successful in covering the lateral defect in the ankle. The technique of harvesting a flap is reliable, fast, and the overall success of the flap is good. The flap is particularly suitable for covering small or moderate sized defects on the lateral malleolus.

Adult↗

Blastogenesis dominant 1: a sequence with midline anomalies and heterotaxy.

Lateralization defect is a heterogeneous condition with different modes of transmission (autosomal recessive, dominant or X-linked). Here, we report on 3 additional families that contribute to the description of phenotypic anomalies of the autosomal dominant type. Phenotypic anomalies include: lateralization defects, cardiac malformations, diaphragmatic hernia, urologic and neurologic anomalies. We suggest calling this sequence BGD1 for blastogenesis dominant 1 because the deleterious effect probably occurs during blastogenesis and involves not only lateralization but other defects as well.

Abnormalities, Multiple↗

Oromandibular reconstruction with the radial-forearm osteocutaneous flap: experience with 60 consecutive cases.

One of the more difficult problems in reconstructive surgery of the head and neck is replacement of bone and soft tissue lost because of injury, osteomyelitis, or malignancy. The radial-forearm osteocutaneous flap is an accepted choice for oromandibular reconstruction. This study was undertaken to review one center's experience with 60 consecutive cases of oromandibular reconstruction with the radial-forearm osteocutaneous flap. Records of the 38 men and 22 women (mean age, 60 years; range, 26 to 86 years) were reviewed for tumor location, defect and bone length, flap failure rate, recipient- and donor-site complications, length of surgery, and hospital stay. Cancer resection was the reason for 97 percent of reconstructions; 33 percent of flaps were used to reconstruct a lateral defect of the mandible, 40 percent a lateral-central defect, and 27 percent a lateral-central-lateral defect. Mean skin flap size was 55 cm2 (range, 15 to 117 cm2) and mean bone length, 9.4 cm (range, 5 to 14 cm). The microvascular success rate was 98.3 percent. Complications included fracture of the donor radius (15 percent), nonunion of the mandible (5 percent), and hematoma (8.3 percent). These results are comparable to results reported in the literature with other radial forearm flaps. The free radial osteocutaneous flap is a safe and reliable choice for mandibular reconstruction. It offers sufficient bone to reconstruct large defects and can provide adequate pedicle length for vessel anastomosis to the contralateral side of the neck. The above attributes make the radial forearm osteocutaneous flap one of the "first line" flap choices for oromandibular reconstruction.

Carcinoma, Squamous Cell↗