Use of a Novel Pulse Dye Laser for Rapid Single-Pass Purpura-Free Treatment of Telangiectases

BACKGROUND Purpura-free elimination of telangiectases with a single pass of a pulsed dye laser with a large spot has proved difficult.
OBJECTIVE The purpose of this report was to define parameters that achieve single-pass purpura-free telangiectasia reduction.
MATERIALS Thirty patients between the ages of 23 and 78 years were treated with a pulsed dye laser with a 10-mm spot and fluences ranging from 9 to 10 J/cm². The macropulse width was 20 ms. Each macropulse was composed of eight pulselets. Treatments were carried out over facial areas with discrete telangiectases.
RESULTS Smaller telangiectases (<600 μm) showed transient bluing followed by stenosis. Larger vessels (600–10,000 μm) showed bluing but inconsistent closure. A second pass typically resulted in closure.
CONCLUSION A modified pulsed dye laser was capable of single-pass purpura-free reduction with a 10-mm spot size.     

Nonablative Phototherapy for Acne Vulgaris Using the KTP 532 nm Laser

BACKGROUND: Acne vulgaris is an acute inflammatory disease of the pilosebaceous units. The bastion of treatment for acne vulgaris has been the use of topical and systemic therapies. Despite many modalities available for treatment, there exists an imperative need for effective noninvasive treatments that reduce the risks of medication side effects. OBJECTIVE: To study the safety and efficacy of the potassium titanyl phosphate (KTP) 532 nm pulsed laser for the treatment of acne vulgaris. METHODS: Twenty-six subjects, clinically evaluated with moderate facial acne, were enrolled in this single-center prospective trial. The entire facial area for each subject was divided in half and randomly designated as either a treatment or a control side. Each subject was treated with four laser exposures using a KTP 532 nm laser with continuous contact cooling. The results were assessed at 1 and 4 weeks post-final treatment. Primary outcome measures were Micha?lsson acne severity score and adverse treatment effects. Secondary outcome measures included subjective evaluations from the investigator and patients assessing their overall percent satisfaction. RESULTS: Primary outcome analysis in the Micha?lsson acne severity score demonstrated a mean 34.9% (p = .011) and 20.7% (p = .25) reduction at the 1-week and 4-week post-final treatments, respectively. Subjective investigator evaluations of overall percent satisfaction indicated that all patients demonstrated a minimum 50% overall satisfaction in treatment outcomes at the 4-week follow-up period. No side effects were encountered. CONCLUSION: Use of the KTP 532 nm laser for the treatment and management of acne vulgaris is both safe and effective, with positive results enduring up to 4 weeks post-treatment.     

Surgical margins after needle-localization breast biopsy

: The use of needle-localization breast biopsy (NLBB) for the early diagnosis of breast cancer is common. The therapeutic adequacy of tumor-free margins following NLBB is unknown. We hypothesized that the presence of residual tumor after reexcision (mastectomy, tylectomy, or quadrantectomy) does not depend on the margin status following NLBB. : Retrospective cohort analysis was performed on 890 consecutive NLBBs executed between January 1990 and June 1994. Patients with invasive breast neoplasia were divided into two groups based on the tumor margins after NLBB. Group 1 were the women with positive margins, and group 2 had negative margins. Breast specimens after reexcision were reviewed for evidence of residual invasive carcinoma. : Invasive neoplasia was present in 107 patients (12%). Surgical margins and definitive records of care were avaliable for 96 of them (90%). All 45 patients in group 1 and 38 (75%) of 51 patients in group 2 underwent reexcision of the initial biopsy site (P = 0.36). Residual invasive carcinoma was present in 10 patients (22%) in group 1 and 3 (8%) in group 2 (P = 0.13). : Invasive breast neoplasia diagnosed by NLBB requires reexcision regardless of tumor margins to achieve complete local surgical eradication of tumor.     

Genetic testing for inherited eye conditions in over 6,000 individuals through the eyeGENE network

Genetic testing in a multisite clinical trial network for inherited eye conditions is described in this retrospective review of data collected through eyeGENE®, the National Ophthalmic Disease Genotyping and Phenotyping Network. Participants in eyeGENE were enrolled through a network of clinical providers throughout the United States and Canada. Blood samples and clinical data were collected to establish a phenotype:genotype database, biorepository, and patient registry. Data and samples are available for research use, and participants are provided results of clinical genetic testing. eyeGENE utilized a unique, distributed clinical trial design to enroll 6,403 participants from 5,385 families diagnosed with over 30 different inherited eye conditions. The most common diagnoses given for participants were retinitis pigmentosa (RP), Stargardt disease, and choroideremia. Pathogenic variants were most frequently reported in ABCA4 (37%), USH2A (7%), RPGR (6%), CHM (5%), and PRPH2 (3%). Among the 5,552 participants with genetic testing, at least one pathogenic or likely pathogenic variant was observed in 3,448 participants (62.1%), and variants of uncertain significance in 1,712 participants (30.8%). Ten genes represent 68% of all pathogenic and likely pathogenic variants in eyeGENE. Cross‐referencing current gene therapy clinical trials, over a thousand participants may be eligible, based on pathogenic variants in genes targeted by those therapies. This article is the first summary of genetic testing from thousands of participants tested through eyeGENE, including reports from 5,552 individuals. eyeGENE provides a launching point for inherited eye research, connects researchers with potential future study participants, and provides a valuable resource to the vision community.     

Cat shedding of Fel d I is not reduced by washings, Allerpet-C spray, or acepromazine

Background: No published studies have compared the effectiveness of several treatments proposed to reduce cat allergenicity. Cat washing studies demonstrating efficacy involved very small sample sizes or infrequent washings. Allerpet-C (Allerpet, Inc., New York, N.Y.), a widely advertised topical spray, and acepromazine, a tranquilizer advocated as efficacious in subsedating doses, have never been scientifically studied. Objective: We compared the effects of cat washing, Allerpet-C spray, and acepromazine with that of no treatment on the shedding of the primary cat allergen, Felis domesticus I by cats. Methods: In a blinded, comparative, controlled study, we measured the amounts of Fel d I shed during an 8-week treatment period with a sample of 24 female mongrel cats randomly assigned to four groups; one group received weekly distilled water washings, one received weekly Allerpet-C spray applications, one received daily oral acepromazine, and one had no treatment (control). Thirty-minute, twice-weekly air samples were collected from each cat with a laminated plastic–acrylic chamber and air sampler. Results: One-sample, two-sided t tests comparing baseline to final-week measurements revealed no significant change in Fel d I within each group (mean change ±SD: washing; 487.6 ± 1896.4 mU per 30 minutes, p = 0.63; Allerpet-C spray, 429.2 ± 871.6 mU per 30 minutes, p = 0.46 acepromazine; −620.6 ± 1031.2, p = 0.52 per 30 minutes). Furthermore, analysis of covariance revealed no significant change in Fel d I levels between groups (p = 0.72). Conclusions: Our data do not show significant reductions in Fel d I shedding as a result of any of these treatments. Therefore we cannot recommend them to patients allergic to cats. (J ALLERGY CLIN IMMUNOL 1995;95:1164-71.)     

A patient with novel MBOAT7 variant: The cerebellar atrophy is progressive and displays a peculiar neurometabolic profile

Mutations in the MBOAT7 gene have been described in 43 patients, belonging to 18 families, showing nonspecific clinical features (intellectual disability [ID], seizures, microcephaly or macrocephaly, and mild to moderate cerebellar atrophy) that make the clinical diagnosis difficult. Here we report the first Italian patient, a 22.5‐year‐old female, one of the oldest reported, born to apparently consanguineous parents. She shows severe ID, macrocephaly, seizures, aggressive outbursts, hyperphagia. We also documented progressive atrophy of the cerebellar vermis, that appeared not before the age of 7. The whole‐exome sequencing of the trio identified a novel homozygous variant c.1057_1058delGCinsCA (p.Ala353His) in the MBOAT7 gene. The variant is considered to be likely pathogenic, since it is absent from population database and it lies in a highly conserved amino acid residue. This disorder has a neurometabolic pathogenesis, implicating a phospholipid remodeling abnormalities. A brain hydrogen‐magnetic resonance spectroscopy (H‐MRS) examination in our patient disclosed a peculiar neurometabolic profile in the cerebellar hemispheric region. This new finding could address the clinical suspicion of MBOAT7‐related disorder, among the wide range of genetic conditions associated with ID and cerebellar atrophy. Moreover, the documented progression of cerebellar atrophy and the worsening of the disease only after some years open to the possibility of a therapeutic window after birth.     

Adult cellular rhabdomyoma of the heart: a report of 3 cases

We present 3 adults with cardiac rhabdomyomas, 2 in the atria and 1 in the right ventricle. One atrial tumor was discovered incidentally, and 1 resulted in supraventricular tachycardia. The ventricular lesion caused ventricular tachycardia. Compared with congenital rhabdomyomas, the tumors are relatively cellular, the cells are smaller, there are few spider cells, and there is evidence of cell proliferation. Two of the 3 tumors demonstrated spindling in contrast to adult rhabdomyomas of the head and neck. Although surgical excision was possible in all patients, long-term follow-up will be required to determine the true biologic behavior of these neoplasms.