Modified purse-string closure for reconstruction of moderate/large surgical defects of the face.

BACKGROUND: Large surgical defects of the face can often be difficult to repair. Extensive adjacent tissue transfer may be necessary and may result in significant scars and possible flap compromise. Often there may be less donor tissue available than is necessary to achieve closure. The alternative is a split-thickness skin graft, which often has a poor cosmetic outcome with poor color match and contour irregularities. OBJECTIVE. A novel approach to closing large surgical defects of the face is described. This relies on a combination of side-to-side bilateral advancement and circumferential tissue recruitment utilizing the purse-string suture. METHODS: Report of illustrated cases. RESULTS: A 3.5 x 5.5 cm preauricular cheek defect, which could not be closed primarily side-to-side, was successfully completely closed in a curvilinear fashion by implementing both side-to-side bilateral advancement and circumferential tissue recruitment. A 3.8 x 5.5 cm cheek defect and a 6.0 x 8.0 cm temple defect were significantly decreased by using the modified purse-string closure. Healing by second intention in these two cases provided an excellent cosmetic result. CONCLUSION: The use of the purse-string closure utilizing circumferential tissue recruitment in combination with side-to-side bilateral adjacent tissue transfer allows seemingly large facial defects to be closed or significantly reduced in size. Such closure is evident even in cases where poor skin laxity and size of the defect would not appear to allow this. The modified purse string closure can result in an excellent cosmetic outcome.

A recurrent homozygous nonsense mutation within the LAMA3 gene as a cause of Herlitz junctional epidermolysis bullosa in patients of Pakistani ancestry: evidence for a founder effect.

The anchoring filament protein laminin 5 is abnormally expressed in the skin of patients with Herlitz junctional epidermolysis bullosa (H-JEB). In this study, we performed mutational analysis on genomic DNA from a H-JEB child of first-cousin Pakistani parents, and identified a homozygous C-to-T transition in the LAMA3 gene of laminin 5 resulting in a premature termination codon (CGA-TGA) on both alleles. This mutation, R650X, has been previously reported in two other seemingly unrelated H-JEB individuals of Pakistani ancestry. Although this mutation may represent a mutational hotspot within the LAMA3 gene, haplotype analysis based on a silent intragenic polymorphism (GCC/GCG, alanine 429; GenBank no. L34155), and on three flanking microsatellite polymorphism (D18S45, D18S478, and D18S480), suggests that a common ancestral allele may be present in all three cases.

A homozygous nonsense mutation in the alpha 3 chain gene of laminin 5 (LAMA3) in Herlitz junctional epidermolysis bullosa: prenatal exclusion in a fetus at risk.

Mutations in the three genes (LAMA3, LAMB3, and LAMC2) that encode the three chains (alpha 3, beta 3, and gamma 2, respectively) of laminin 5, a protein involved in epidermal-dermal adhesion, have been established as the genetic basis for the inherited blistering skin disorder, Herlitz junctional epidermolysis bullosa (H-JEB). In this study, we performed mutational analysis on genomic DNA from a child with H-JEB and identified a nonsense mutation in the alpha 3 chain gene (LAMA3) consisting of a homozygous C-to-T transition resulting in a premature termination codon (CGA-->TGA) on both alleles. The parents were shown to be heterozygous carriers of the same mutation. Direct mutation analysis was used to perform DNA-based prenatal diagnosis from a chorionic villus biopsy at 10 weeks' gestation in a subsequent pregnancy. The fetus was predicted to be genotypically normal with respect to the LAMA3 mutation.

A homozygous nonsense mutation in the alpha 3 chain gene of laminin 5 (LAMA3) in lethal (Herlitz) junctional epidermolysis bullosa.

The inherited mechanobullous disorder, junctional epidermolysis bullosa (JEB), is characterized by extensive blistering and erosions of the skin and mucous membranes. The diagnostic hallmarks of JEB include ultrastructural abnormalities in the hemidesmosomes of the cutaneous basement membrane zone, as well as an absence of staining with antibodies against the anchoring filament protein, laminin 5. Therefore, the three genes encoding alpha 3, beta 3 and gamma 2 chains of laminin 5, known as LAMA3, LAMB3 and LAMC2, are candidate genes for JEB. We have previously demonstrated mutations in the LAMB3 and LAMC2 genes in several families with JEB. We initiated mutation analysis from an affected child by PCR amplification of individual LAMA3 exons, followed by heteroduplex analysis. Nucleotide sequencing of heteroduplexes identified a homozygous nonsense mutation within domain I/II of the alpha 3 chain. These findings provide the first evidence that nonsense mutations within the LAMA3 gene are also involved in the pathogenesis of JEB, and indicate that mutations of all three genes of laminin 5 can result in the JEB phenotype.

[Small fat-containing focal renal lesions: echographic and CT aspects]. / Piccole lesioni focali renali contenenti grasso: aspetti ecografici e TC.

The discovery of a small fat-containing intraparenchymal renal mass on ultrasonography (US) or computed tomography (CT) poses a problem in diagnosis and patient management. Small lipomas of the kidney were detected by ultrasonography and CT in seven patients. In all patients the lesions were found by chance. No patients underwent surgery. These fat-containing nodules are not an uncommon finding at routine autopsy. Follow-up studies showed no change in the size of the lesions. These lesions do not show growth and surgical intervention does not seem to be indicated. This report demonstrates the capability of US and CT in the detection and diagnosis of these small islands of fat-containing tissue within the renal parenchyma.

Diagnostic approach to hepatic hemangiomas detected by ultrasound.

Eighty cases of hepatic hemangioma were studied using ultrasound. In one group consisting of 28 subjects a final diagnosis of hepatic hemangioma was supported by arteriography (21 cases) or surgery (7 cases). In the remaining 52 cases, the diagnosis was uncertain and the normal clinical and biochemical findings with the ultrasound follow-up studies at intervals of 3, 6 and 12 months, made a diagnosis of hemangioma highly probable. Twenty-nine cases (9 cases of the first group and 20 of the second) were also evaluated by Tc-99m colloid and in vivo Tc-99m-labelled red blood cell scintigraphy. On the basis of ultrasound appearance and internal structure, hemangiomas may be divided into three groups: hyperechoic pattern (of which there were 16 cases in our study), cystic or anechoic pattern (5 cases), and complex pattern (7 cases). Fifty-two cases of uncertain diagnosis showed hyperechoic focal lesions with rounded, well-defined margins and no clinical or biological abnormalities. Differentiation from malignant forms must be approached according to the specific ultrasound pattern observed and the presence or absence of symptoms. Only in cases of hyperechoic, well-defined lesions detected in asymptomatic patients may a reliable diagnosis of hemangioma be made. The use of in vivo Tc-99m-labeled red blood cell scintigraphy (Tc-99m RBC scintigraphy) is useful in hyperechoic and cystic forms having a diameter greater than 3 cm. Complex forms invariably require additional studies, using complementary procedures (angiography, angio-CT) to confirm diagnosis.

Likelihood ratio as an index of the diagnostic usefulness of ultrasonic information in gastrointestinal disease.

The authors describe the utilization of the log-likelihood statistic as a means to establish the impact of diagnostic sonography on gastroenteric pathology. The statistical method does not require a final diagnosis, but gives an evaluation of how the clinician's opinion is changed or not by the sonographic diagnosis.

The role of ultrasonography and ultrasound guided biopsy in the management of patients with cold nodules of the thyroid.

The histological diagnoses of surgical specimens from 86 patients with cold nodules of the thyroid (55 goitres, 16 adenomas and 15 malignancies) were compared with the clinical data, ultrasonographic appearances and the results of the fine needle biopsy of each patient to evaluate the role of ultrasonography alone and combined with guided biopsy in distinguishing patients with malignancies from patients without malignancies. The Authors suggest that ultrasonography alone cannot be used for distinguishing malignancies from non-malignancies in cold nodules of the thyroid; the combined use of the ultrasonographic appearances with guided biopsy offers a remarkable diagnostic gain in this field. In the Authors' case material the detection of a simple cyst by ultrasound always excluded the possibility of malignancy.

Ultrasound and computer tomography in the evaluation of focal liver disease.

The results of ultrasound and computer tomography in 150 patients with possible focal liver disease were compared. Ultrasound was more sensitive than CT in detecting lesions but similar information on the nature of the lesions was obtained with both methods. CT provided more complete information than US on the extent of the lesion. Thus, CT and US are supplementary in the evaluation of focal liver disease. Because of the higher sensitivity US should be the first examination, followed, if clinically indicated, by CT confirmation and possible further information regarding the extent of the lesion.

[Radiological considerations of cranio-facial volumetry in the newborn (author's transl)]. / Osservazioni radiologiche di volumetria cranio-facciale nel neonato.

The authors have reported that the wide range of sizes of the normal skull, make difficult the assessment of macrocephaly and microcephaly of mild degree. For this fact they studied and applied a simple method based on the measurement of the cranial capacity and facial volume and on their relationship; they have calculated the "cranio-facial ratio" (CFR), in 42 normal newborns (21 females and 21 males), whose range is sufficiently delimited, consenting a more precise judgement in pathological field.