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Antihistamines are a group of medications which can inhibit various histaminic actions at one of two histamine receptors (H1 or H2). H1 receptor antagonists are used for the relief of allergic dermatological and nondermatological conditions. We will review classes of antihistamines (H1 antagonists) and the relationship between specific antihistamines and specific birth defects. Although many findings provide reassurance about the relative safety of many antihistamine drugs and that any malformation reported is most probably caused by chance, studies are still required to assure fetal safety. As pruritus is sometimes troublesome for pregnant women topical medications like emollients should be tried first in the first trimester of pregnancy. Also pregnant women should be advised to consult their health care provider before taking any medication.Keywords: Antihistamine;Birth defects;Congenital malformation;H1 antagonist;Early pregnancy; Dermatological conditions

Objectives Genetic typing of the intronic (CA)n loci within the dystrophin gene was exploited for linkage analysis and diagnosis of carrier status. Design and methods IP-RP-HPLC was developed for genotyping of 98 chromosomes. Results The typing of 2-bp STRs with mean SD of ± 0.43 bp ensured an allele's identity with 99.7% confidence. Conclusion The automation enabled the accurate sizing of unlabeled alleles with an excellent reproducibility of 100% with significant labor saving and reduced reagent costs.

Phenylketonuria [PKU] is an autosomal recessive genetic disorder caused by defects in the phenylalanine hydroxylase [PAH] system. Our work aimed to screen the PAH locus for the presence of potentially useful short tandem repeats [STR] as markers for carrier detection in PKU families in Egypt, and to determine the level of PAH heterozygosity within the Egyptian population. The system contains at least eight independent alleles in the Egyptian population, transmitted in a Mendelian fashion. Variations in the number of STR in the 16 families studied gave rise to polymorphisms that proved to be suitable markers for PKU carrier detection and prenatal diagnosis. The most frequent allelic fragment size in PKU patients was 246 bp [35.7%], which together with a fragment of 254 bp accounted for 60.7% of the mutant chromosomes.

Genetic skeletal dysplasias or osteochondrodysplasias constitute a large group of hereditable disorders with generalized skeletal involvement that can cause significant morbidity and mortality. Although most genetic skeletal dysplasias have been well identified clinically, the overlap between dysplasia subtypes may create diagnostic challenges. The plain radiographic presentation of genetic skeletal dysplasias may closely mimic rheumatologic, hematologic, and Perthes disease. Accurate review of the plain radiographic and clinical data may allow to prioritize and conduct gene sequencing tests efficiently. Bone imaging plays a distinctive role in diagnosis. We reviewed the radiologic profile of patients with some commonly seen skeletal dysplasias; achondroplasia, multiple epiphyseal dysplasia, pseudoachondroplasia, spondyloepiphyseal dysplasia tarda, osteogenesis imperfecta, mucopolysaccharidosis, and spondylometaphyseal and spondyloepimetaphyseal dysplasia. We proposed a specific radiographic approach to the differential diagnosis of commonly seen osteochondrodysplasias. The pictorial essay demonstrates that careful plain radiographic evaluation can be a very beneficial tool to the diagnostic process of osteochondrodysplasias.

Optical breast imaging studies show that controlled pressure maneuvers improve contrast between tumors and both the surrounding healthy tissue and the contralateral breast. The accuracy of tumor localization and sizing was consequently improved.

Biomarkers that are promising for breast-cancer diagnosis are identified in resting-state dynamic measures of the vascular bed. The markers also encompass a large fraction of the breast volume, which shows little dependence on tumor size.

Cardiac and ocular manifestations were evaluated in 21 patients clinically suspected of mucopolysaccharidosis. After electrophoresis analysis of urinary glycoaminoglycans, 3 patients were excluded because their results did not correlate with any known type of mucopolysaccharidosis. Echocardiography revealed abnormal findings in 11 patients [61.1%]. The mitral valve was the most commonly affected valve; 7 patients [38.9%] had thickened mitral valve and 6 had mitral regurge. Corneal opacities were found in 3 patients [16.7%] and progressive increase in intraocular pressure in 1 patient [5.6%], while fundus examination showed early optic atrophy in 1 patient [5.6%] and bilateral papilloedema in 2 patients [11.1%].

This study was carried out with 33 spinal muscular atrophy [SMA] patients. DNA molecular studies of the SMA gene on the long arm of chromosome 5 [5q11.2q13.3] revealed homozygous deletion of exon 7 in 55% of cases, 36% of whom also had a homozygous delition of exon 8. The adult patients were heterozygous for an abnormal size exon 8. The remaining patients had either compound heterozygote deletion of exons 7 and 8 or were normal for both. There may therefore be 5q-unlinked SMA or SMA due to other mutations. Detection of deletions of SMA exons 7 and 8 is a powerful diagnostic test in patients with SMA, but other mutations among Egyptians must also be sought.

Peters anomaly is a rare form of anterior segment dysgenesis in which abnormal cleavage of the anterior chamber occurs involving the central or entire cornea. It may be associated with other ocular or systemic abnormalities. Peters Plus syndrome, also known as Krause–Kivlin syndrome, characterized by additional anomalies including short stature with developmental delay, facial dysmorphism, genitourinary abnormalities; syndactyly; brachycephaly; and cardiac, neural, and hearing abnormalities. Here we report an 8 month old boy with typical features of Peters Plus syndrome including eye anomalies, dysmorphic features, global developmental delay, growth retardation, bilateral talipes equinovarus, complex renal anomalies, absent anal canal, sacral agenesis and sensorineural hearing loss. To our knowledge, the last three features were not reported beforeKeywords: Peters anomaly; Corneal opacity; Absent anal canal; Deafness

We have explored the vascular response of the breast to inspiration of Carbogen. Results show greater changes in vasoconstriction and HbSat in the tumor-bearing breast compared to the healthy contralateral breast of the same patient.

The optomechanical response of the breast was explored during fine articulation as a function of the applied force protocol. Comparisons between calculated internal pressure or stress maps and reconstructed hemodynamic images show strong correlations.

A new functional imaging system, which combines precise mechanical articulation and dynamic optical tomography for the detection breast cancer, is presented. Results obtained indicate that a wealth of new contrast features is accessible.

Mental retardation is present in about 1–3% of individuals in the general population, but it can be explained in about half of the cases. A descriptive study was carried out to screen for subtle chromosomal rearrangements in a group of Egyptian children with idiopathic mental retardation (IMR) to estimate its frequency if detected. The study enrolled 30 patients with IMR, with the perquisite criteria of being

Diffuse optical tomography has shown promising results as a tool for breast cancer screening and monitoring response to chemotherapy. Dynamic imaging of the transient response of the breast to an external stimulus, such as pressure or a respiratory maneuver, can provide additional information that can be used to detect tumors. We present a new digital continuous-wave optical tomography system designed to simultaneously image both breasts at fast frame rates and with a large number of sources and detectors. The system uses a master-slave digital signal processor-based detection architecture to achieve a dynamic range of 160 dB and a frame rate of 1.7 Hz with 32 sources, 64 detectors, and 4 wavelengths per breast. Included is a preliminary study of one healthy patient and two breast cancer patients showing the ability to identify an invasive carcinoma based on the hemodynamic response to a breath hold.

Continuous wave optical tomography is non-ionizing, uses endogenous contrast, and can be performed quickly and at low cost which makes it a suitable imaging modality for breast cancer screening. Using multiple wavelengths of light to illuminate the breast at various angles, three-dimensional images of the distribution of chromophores such as oxy- and deoxy-hemoglobin can help identify cancerous tissue. Dynamic optical imaging can provide additional insight into cancer characteristics such as angiogenesis and metabolism. Here we present the first clinical data acquired with our novel digital breast imaging system. This system is based upon a Digital Signal Processor (DSP) architecture that leverages the immediate digitization of acquired analog data to reduce noise and quickly process large amounts of data. Employing this new instrument we have investigated the dynamic changes due to a breath hold and its potential for use in breast cancer screening. Over the course of a breath hold, images have been collected simultaneously from both breasts at a rate of 1.7 frames per second with 32 sources and 64 detectors per breast and four wavelengths of light at 765, 805, 827, and 905nm. Initial results involving one healthy volunteer and one breast cancer patient support the potential use of dynamic imaging for breast cancer detection.

System design, performance characteristics and representative clinical findings are described for a second generation dynamic near-infrared optical tomography breast imager that examines both breasts simultaneously under conditions of rest and controlled provocation. Novel elements of the system include incorporation of high-density optical sensing heads (8192 channels) that include feedback-controlled force-sensing articulating members, their capacity to conform to a wide range of breast sizes, and the ability to perform opto-mechanical scans in the seated position. The new sensor heads employ a set of stepper linear motors to adjust the applied force with high spatial selectivity and rapid response time, and strain gauges to provide for active control. A user interface has been developed to support two different modes of sensing head control. In both modes, optical measurements from all sensing channels are continuously recorded. In all, the developed system provides three sets of measurements: optical, applied force, and deformation. The high sensor density combined with fine articulation supports exploration of the hemodynamic response of the breast under a wide range of protocols together with measures of Young's modulus and quasi-elastic plastic deformation. Representative clinical findings obtained from healthy and tumor breasts at rest and during controlled provocations are presented.

A dual-mode dynamic optical tomographic imaging system fitted with a programmable articulating sensing head that also performs pressure and displacement measurements is described. Measures of system performance and initial clinical findings are presented.

Breast cancer characteristics such as angiogenesis and hypoxia can be quantified by using optical tomography imaging to observe the hemodynamic response to an external stimulus. A digital near-infrared tomography system has been developed specifically for the purpose of dynamic breast imaging. It simultaneously acquires four frequency encoded wavelengths of light at 765, 808, 827, and 905nm in order to facilitate the functional imaging of oxy- and deoxy-hemoglobin, lipid concentration and water content. The system uses 32 source fibers to simultaneously illuminate both breasts. There are 128 detector fibers, 64 fibers for each breast, which deliver the detected light to silicon photo-detectors. The signal is conditioned by variable gain amplifiers and filters and is quantized by an analog to digital converter (ADC). The sampled signal is then passed on for processing using a Digital Signal Processor (DSP) prior to display on a host computer. The system can acquire 2.23 frames per second with a dynamic range of 236 dB.

Optical imaging has the potential to play a major role in breast cancer screening and diagnosis due to its ability to image cancer characteristics such as angiogenesis and hypoxia. A promising approach to evaluate and quantify these characteristics is to perform dynamic imaging studies in which one monitors the hemodynamic response to an external stimulus, such as a valsalva maneuver. It has been shown that the response to such stimuli shows MARKED differences between cancerous and healthy tissues. The fast imaging rates and large dynamic range of digital devices makes them ideal for this type of imaging studies. Here we present a digital optical tomography system designed specifically for dynamic breast imaging. The instrument uses laser diodes at 4 different near-infrared wavelengths with 32 sources and 128 silicon photodiode detectors.

For much of the past decade, we have developed most of the essential hardware and software components needed for practical implementation of dynamic NIRS imaging. Until recently, however, these efforts have been hampered by the lack of calibrating phantoms whose dynamics substantially mimic those seen in tissue. Here we present findings that document the performance of a dynamic phantom based on use of twisted nematic liquid crystal (LC) technology. Programmable time courses of applied voltage cause the opacity of the LC devices, which are embedded in a background matrix consisting of polysiloxane (silicone) admixed with scattering and absorbing materials, to vary in a manner that mimics the spatiotemporal hemodynamic pattern of interest. Methods for producing phantoms with selected absorption and scattering, internal heterogeneity, external geometry, hardness, and number and locations of embedded LCs are described. Also described is a method for overcoming the apparent limitation that arises from LCs being mainly independent of the illumination wavelength. The results presented demonstrate that: the opacity vs. voltage response of LCs are highly stable and repeatable; the dynamic phantom can be driven at physiologically relevant speeds, and will produce time-varying absorption that follows the programmed behavior with high fidelity; image time series recovered from measurements on the phantom have high temporal and spatial location accuracy. Thus the dynamic phantom can fill the need for test media that practitioners may use to confirm the accuracy of computed imaging results, assure the correct operation of imaging hardware, and compare performance of different data analysis algorithms.

An optical tomography system was developed that allows the simultaneous bilateral imaging of the breasts’ vascular dynamics with a high spatial probing density (2096 measuring channels per wavelengths per breast). The system features novel fiber-optic probe arrays, which afford high-fidelity optical contact in a well-defined geometry, and which conform to a wide range of breast shapes and sizes without undue compression or the use of coupling fluids. The sensing arrays use strain gauges to monitor the compression of the breasts and to measure the tissue’s reaction to pressure-modulating patient maneuvers.The system is described and preliminary experimental results from combined optical/strain measurements on the healthy breast are shown.

We present the design of an optical breast imaging system based on digital conversion, processing, and filtering techniques. The system consists of 128 silicon photodiode detectors, 64 excitation points, and 4 near-infrared laser diodes.