Case Report: Multiple pterygium syndrome with marked pterygia of the fingers and MRI changes in the spine

We report a two years old Egyptian girl, the first birth of consanguineous marriage with clinical findings consistent with the diagnosis of the autosomal recessive multiple pterygium syndrome (Escobar) (growth retardation, craniofacial dysmorphism, multiple pterygia, kyphoscoliosis, multiple joint contractures especially affecting the lower limbs). What characterizes out patient was the extensive pterygia of the fingers which kept them permanently flexed, while they were very mild in the neck, axillary folds and knee joints. Our patient suffered also from mental retardation although mentality is commonly reported to be normal in this syndrome. MRI of the spine revealed widened spinal canal and engorged intraspinal vessels, which were not reported before.Keywords: Multiple pterygium syndrome; Joint contractures; Kyphoscoliosis; Autosomal recessiv

Case Report: Intrafamilial variability in Simpson–Golabi–Behmel syndrome with bilateral posterior ear lobule creases

We report a family having two male sibs with Simpson–Golabi–Behmel syndrome (SGBS). Both have many typical features of the syndrome. These features included macrocephaly, macroglossia, post axial polydactyl of the left hand, bilateral low insertion of the thumb, multiple accessory nipples, hepatomegaly, and congenital heart. The patients have bilateral anterior helical ear pits, and characteristic posterior ear lobule creases. The older one has severe mental retardation and died at the age of 13 months with bronchopneumonia, and the younger one is 7 months old with normal mentality. The mother looks broad, stocky, and tall.Keywords: Simpson–Golabi–Behmel syndrome; Over growth syndromes; Glypican (GPC) 3; Polydactyly; Macroglossia; Accessory nipple

Dynamic response of reinforced concrete beams subjected to low velocity impact loads using nonlinear finite element analysis

The development of a nonlinear finite element method (FEM) for examining how reinforced concrete (RC) beams react to dynamic forces under the action of low-velocity impacting loads is presented in this article. The model was employed to analyze the stress distributions along with the time histories of impacting load and beam deflection, which were presented graphically. Comparisons with experimental data from previously conducted studies have been performed to verify the precision of the studied model. The findings demonstrated that the developed model was acceptable. Furthermore, the study performed a detailed parametric analysis, focusing on various factors such as replacing conventional steel bars with FRP bars, increasing concrete compressive strength, changing the impact location, using different diameters of reinforcing bars, and changing the depth of the concrete beam. According to the findings, using FRP bars resulted in 36% less peak load due to the uplift pressure caused by the FRP bars' high strength, while the maximum observed deflection of the beam reinforced with FRP bars decreased by approximately 9%. When the position of the impacting force was applied at one-third of the span of the beam, deflection was decreased by 12% when compared to the RC beam has been impacted at its midspan. In addition, the depth of the beams had a significant impact on the impacting load. These presented findings of the study may contribute to a better understanding of how a structure made of concrete responds to impacting loading

Case Report: Bilateral absence of fifth ray in feet, cleft palate, malformed ears, and corneal opacity in a patient with Miller syndrome

Background: Miller syndrome is one of the acrofacial dysostosis syndromes, which are characterized by malformations of the craniofacial region and limbs.Case report: A 26 month old male child, the product of healthy nonconsanguineous parents has many typical features of Miller syndrome. He has cleft lip and palate, malar hypoplasia, left crumpled cup shaped ear, and prominent nose together with the absence of the fifth ray in feet (postaxial) and fixation of interphalangeal joints of both thumbs (preaxial). However the limb affection is bilateral and symmetrical against what is usually reported (bilateral with more affection of one side) and the micrognathia is very mild. Our patient has also bilateral corneal opacities as well as underdeveloped external genitals.Conclusion: There is phenotypic variability in Miller syndrome, and our patient may represent a new distinct subgroup in postaxial acrofacial dysostosis.Keywords: Miller syndrome; Gene´e–Weidemann syndrome; Postaxial acrofacial dysostosis syndrome; Corneal opacit

Blepharophimosis, ptosis, epicanthus inversus syndrome type 2 with red hair, lymphedema of lower limbs and kidney stones in an Egyptian patient

We report the case of a 2 month old male, 6th in order of birth of 1st cousin consanguineous marriage with the typical features of blepharophimosis, ptosis, epicanthus inversus syndrome (BPES) including bilateral shortening of the horizontal and vertical dimensions of the palpebral fissures, bilateral eye lids drooping, lateral displacement of inner canthi with a small skin-fold obscuring the inner canthus of the eye. Our patient had normal psychomotor development. His father was similarly affected suggesting autosomal dominant inheritance. The patient had red brown hair, lymphedema of lower limbs and kidney stones which were not reported before with this syndrome. Most probably these additional features are associations with BPES

Familial Peters Plus syndrome with absent anal canal, sacral agenesis and sensorineural hearing loss: Expanding the clinical spectrum

Abstract 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; Deafnes

Oral-facial-digital syndrome type II: Transitional type between Mohr and Varadi

We report a 2 months old boy, the first in order of birth of  non-consanguineous parents, with several typical features of oral-facial-digital syndrome type II (OFDS II) including cleft lip, high arched palate,  retromicrognathia, preaxial polysyndactyly of hands and feet, duplication ofthumb and hallux. Interestingly, the patient also had mesoaxial polydactyly of the left hand with extra metacarpal bones characteristic of OFDS. VI, however mentality and MRI brain were normal. This unusual association may suggest an additional subgroup of OFDSs or a variant of OFDS II due to variable gene expression or a transitional type between OFDS II and OFDS VI

Case Report - Neonatal progeroid syndrome (Wiedemann-Rautenstrauch syndrome) in an Egyptian child with premature loss of teeth, and café au lait skin patches

A female, 26 months old with features supporting the diagnosis of neonatal progeroid syndrome was presented. She had prenatal and postnatal growth failure, generalized lipoatrophy except for fat pads in the suprabuttock areas, triangular face, pseudohydrocephalous, sparse scalp hair and eyebrows, prominent scalp veins, greatly widened anterior fontanels, and moderate mental retardation. The patient had also some features not reported previously as premature loss of milk teeth, large mouth, atrophic gums, protruded lower jaw, and café aulait skin patches on lower limbs. Nail dystrophy was also detected. She had local depression of the left parietal bone on CT brain, white matter demyelination in MRI brain, and high level of cholesterol.Keywords: The neonatal progeroid syndrome; Wiedemann-Rautenstrauch syndrome; Premature aging; Milk teeth; Nail dystrophy; Café au lait skin patche

The Roles of Lower Glycolytic Enzymes and Transporters in Regulating the Integrity of Retinal Vascular Endothelial Cell Barrier

Purpose: Damage to the retinal endothelial cells (RECs) is implicated in the progression of retinal degenerative diseases, including diabetic retinopathy and diabetic macular edema. While the role of glycolysis in glucose homeostasis is well-established, its contribution to REC barrier assembly remains unclear. In this study we investigated the importance of lower glycolytic components in maintaining the barrier integrity of human RECs (HRECs). Methods: Electric cell-substrate impedance sensing (ECIS) technology was employed to analyze the real-time impact of various glycolytic enzymes and transporters on the maintenance of HREC barrier integrity, represented by resistance (R) across the cells. Heptelidic acid was used to inhibit glyceraldehyde-3-phosphate dehydrogenase (GAPDH); NG52 to inhibit phosphoglycerate kinase 1 (PGK1); AP-III-a4 to inhibit enolase; shikonin to inhibit pyruvate kinase M2 (PKM2); galloflavin to inhibit lactate dehydrogenase (LDH); AZD3965 to inhibit monocarboxylate transporter 1 (MCT1); and MSDC-0160 to inhibit mitochondrial pyruvate carrier (MPC). Concentrations of 1 µM and 10 µM were tested for each inhibitor. The viability of the HRECs was evaluated using an LDH cytotoxicity assay at 24 and 48 hours. Results: R across the HRECs was most significantly decreased with PKM2 inhibition with shikonin and GAPDH inhibition using heptelidic acid, which was not due to reduced cellular viability. Interestingly, inhibition of PGK1 with NG52 had a protective effect on HREC barrier integrity. Conclusions: This study highlights the critical role of PKM2 and GAPDH in maintaining the barrier integrity of HRECs. Understanding the contributions of each glycolytic component to the HREC barrier facilitates the development of targeted interventions to treat retinal endothelial cell dysfunction

Cornelia-de Lange syndrome in an Egyptian infant with unusual bone deformities

We report a 4 month old female infant with the typical features of Cornelia-de Lange syndrome. What was striking in our patient was the presence of skeletal anomalies not reported previously. These included arachnodactly of both fingers and toes, flexion of thumbs at metacarpophalengeal joints, bilateral short big toes, angulation of the lower part of the bones of right forearm and both legs with multiple skin folds. Also biochemical and X-ray evidence of rickets was detected mostly due to malnutrition and failure to thrive. The patient died at the age of 5 months with bronchopneumoniaand gastroenteritis