Reproducibility of Manifest Refraction in Patients With Keratoconus Compared With Healthy Subjects: A Prospective Cohort Study.

Purpose: To measure and compare the inter-examiner reproducibility of manifest refraction in patients with keratoconus.

Design: Prospective, inter-examiner reliability analysis comparing cases and controls.

Methods: Patients with keratoconus (KC) and healthy subjects had undergone manifest refraction by the same 2 skilled optometrists; each was masked to the refraction of the other, on the same day.

Informative censoring of surrogate end-point data in phase 3 oncology trials.

Background: Kaplan-Meier (K-M) analysis, the cornerstone of cancer clinical trial interpretation, assumes that censored patients are no more or less likely to experience an event than those followed. We sought to investigate the patterns of censoring in surrogate end-points of oncology randomised controlled trials (RCTs) and examine the relationship between censoring in practice-changing treatments that failed to demonstrate survival gain.

Methods: In this cross-sectional study of phase III RCTs published in the New England Journal of Medicine, Lancet, and JAMA, between 2010 and 2020, K-M curves of surrogate end-points with statistical significance were extracted.

Mild Phenotype of Wolfram Syndrome Associated With a Common Pathogenic Variant Is Predicted by a Structural Model of Wolframin.

Objective: To describe the c.1672C>T; p.R558C missense variant, found in 1.

Key Role of the Dispersion of Carbon Nanotubes (CNTs) within Epoxy Networks on their Ability to Release.

Carbon nanotube (CNT)-reinforced nanocomposites represent a unique opportunity in terms of designing advanced materials with mechanical reinforcement and improvements in the electrical and thermal conductivities. However, the toxic effects of these composites on human health have been studied, and very soon, some regulations on CNTs and on composites based on CNTs will be enacted. That is why the release of CNTs during the nanocomposite lifecycle must be controlled.

Ocular involvement in coronavirus disease 2019 (COVID-19): a clinical and molecular analysis.

Purpose: Coronavirus disease 2019 (COVID-19) caused a global pandemic with millions infected worldwide. Little is known on the ocular involvement associated with the disease. The aim of this study was to assess the clinical and molecular ocular involvement among patients with confirmed COVID-19 admitted to a tertiary care facility.

The limited effect of information on Israeli pregnant women at advanced maternal age who decide to undergo amniocentesis.

Background: A primary goal of amniocentesis is the detection of trisomy 21 (Down syndrome- DS) in the fetus. This procedure involves a small risk of miscarriage. As the risk of DS increases with maternal age, screening tests (maternal serum triple test and others) and age are used to generate a risk assessment, and amniocentesis is offered to women with high risk.

Sexual functioning of cervical cancer survivors: a review with a female perspective.

Objective: Sex is an important, often deteriorated, dimension of quality of life after cancer treatment. We conducted a systematic review on sexual functioning of cervical cancer survivors.

Methods: Studies between January 1988 and April 2010 were rated on their internal validity.

Enhanced S-cone function with preserved rod function: a new clinical phenotype.

Purpose: To describe the clinical findings and genetic analysis in two brothers having a novel retinal disease characterized by an enhanced S-cone phenotype with normal rod function.

Methods: Both patients underwent complete ophthalmologic examinations, including fundus photography, electroretinography (ERG), fluorescein angiography and optical coherence tomography (OCT). Mutation analysis of the following candidate genes was performed: nuclear receptor subfamily 2 group E member 3 (NR2E3), neural retina leucine zipper (NRL), nuclear receptor subfamily 1 group D member 1 (NR1D1), and thyroid hormone receptor beta (THRB).

Presentations of endometrial activity after curative radiotherapy for cervical cancer.

Objectives: The treatment of choice for patients with advanced stage cervical cancer is (chemo)radiotherapy. Gynaecologic side effects consist of loss of ovarian function and destruction of the endometrium, resulting in infertility and premature ovarian failure. In premenopausal patients estrogens are prescribed to prevent climacteric symptoms.

Pilot study of vaginal plethysmography in women treated with radiotherapy for gynecological cancer.

Objective: After pelvic radiotherapy for gynecological cancer, changes in the vaginal epithelium might influence sexual arousal and satisfaction, leading to dyspareunia and relational problems. The aim of the study was to determine the feasibility of vaginal plethysmography in order to measure physical late effects of this therapy on sexual function.

Methods: Patients treated with radiotherapy for cervical, endometrial, or ovarian cancer, who were in complete remission for over 1 year, underwent vaginal plethysmography to measure changes in vaginal vasocongestion, while watching erotic video fragments.

Comparison between SLC3A1 and SLC7A9 cystinuria patients and carriers: a need for a new classification.

Recent developments in the genetics and physiology of cystinuria do not support the traditional classification, which is based on the excretion of cystine and dibasic amino acids in obligate heterozygotes. Mutations of only two genes (SLC3A1 and SLC7A9), identified by the International Cystinuria Consortium (ICC), have been found to be responsible for all three types of the disease. The ICC set up a multinational database and collected genetic and clinical data from 224 patients affected by cystinuria, 125 with full genotype definition.

Serum squamous cell carcinoma antigen and CYFRA 21-1 in cervical cancer treatment.

Purpose: To analyze whether serum squamous cell carcinoma (SCC) antigen and cytokeratin-19 fragments (CYFRA) levels can assist in selecting patients with locally advanced cervical cancer who will benefit from combined treatment or additive surgery.

Methods And Materials: Of 114 patients with cervical cancer Stage IB-IV, the first 39 patients received radiotherapy, the following 75 patients received identical radiotherapy plus concomitant chemotherapy (3 cycles of carboplatin and 5-fluorouracil). SCC antigen and CYFRA 21-1 serum levels were measured before treatment, after therapy, and during follow-up.

Micro-method to isolate and purify amyloid proteins for chemical characterization.

The amyloidoses represent a heterogeneous group of disorders characterized by the pathologic deposition as fibrils of at least 20 different precursor molecules. To establish definitively the specific type of amyloid protein contained in fibrillar deposits, such material must be extracted, purified, and subjected to amino acid sequence analysis. Heretofore, the chemical identification of amyloid components has required gram quantities of tissue.

Functional analysis of mutations in SLC7A9, and genotype-phenotype correlation in non-Type I cystinuria.

Cystinuria (OMIM 220100) is a common recessive disorder of renal reabsorption of cystine and dibasic amino acids that results in nephrolithiasis of cystine. Mutations in SLC3A1, which encodes rBAT, cause Type I cystinuria, and mutations in SLC7A9, which encodes a putative subunit of rBAT (b(o,+)AT), cause non-Type I cystinuria. Here we describe the genomic structure of SLC7A9 (13 exons) and 28 new mutations in this gene that, together with the seven previously reported, explain 79% of the alleles in 61 non-Type I cystinuria patients.

Genotype-phenotype assessment of common genotypes among patients with familial Mediterranean fever.

Objective: To study genotype-phenotype correlation for the 4 most common genotypes found among patients with familial Mediterranean fever (FMF).

Methods: Thirty patients with the M694V/M694V genotype, 32 with M694V/V726A genotype, 25 with M694V/E 148Q genotype, and 21 with V726A/V726A genotype were assessed for various clinical manifestations of FMF, and overall disease severity.

Results: Patients with the M694V/M694V genotype were found to have an earlier age of onset, higher frequency of joint involvement, higher frequency of erysipelas-like erythema, and required higher doses of colchicine to control the disease compared to the other 3 genotypes.

Seasonal variation of artemisinin and its biosynthetic precursors in plants of Artemisia annua of different geographical origin: proof for the existence of chemotypes.

The time course of the levels of artemisinin, its biosynthetic precursors and the biosynthetically related sesquiterpenes was monitored during a vegetation period of Artemisia annua plants of different geographical origin. Considerable differences in contents of artemisinin and its direct precursors artemisinic acid and dihydroartemisinic acid were found between these A. annua's.

Non-type I cystinuria caused by mutations in SLC7A9, encoding a subunit (bo,+AT) of rBAT.

Cystinuria (MIM 220100) is a common recessive disorder of renal reabsorption of cystine and dibasic amino acids. Mutations in SLC3A1, encoding rBAT, cause cystinuria type I (ref. 1), but not other types of cystinuria (ref.

Analysis of allelic association between D6S461 marker and multiple sclerosis in Ashkenazi and Iraqi Jewish patients.

A genetic factor contributing to multiple sclerosis (MS) disease risk is evident by the increased prevalence of disease among siblings of probands. A recent genome screen on Canadian sib pairs suffering from MS identified linkage between the genetic marker D6S461 and MS, and showed disequilibrium in transmission of its 260-bp allele from heterozygous parents to affected siblings (Ebers et al., 1996).

Current concepts about testicular cancer.

In the past 20 years, testicular cancer, which occurs in the young, has become a curable malignancy; 90% of the patients treated will achieve long-term survival. However, there is a significant morbidity associated with the management of the disease process. The literature was reviewed concerning the current treatment strategies and prognosis, as well as the long-term sequelae of the various diagnostic and therapeutic procedures.

Binding of human serum amyloid A (hSAA) and its high-density lipoprotein3 complex (hSAA-HDL3) to human neutrophils. Possible implication to the function of a protein of an unknown physiological role.

Serum amyloid A (SAA) is an acute-phase serum protein which exists in the body in a complex with high-density lipoprotein (HDL3). It is involved in chronic inflammation and neoplastic diseases in an as yet unknown manner. Toward an understanding of the possible physiological role of SAA we initiated a study of its association with blood proinflammatory cells with which it may interact functionally in vivo.