[Complications of mechanical thrombectomy].

Clinical Problem: Ischemic stroke is the most common cause of disability in adults and an important disease for society; therefore, the prevention, diagnosis, and treatment play an important role. Endovascular mechanical recanalization to reopen large occlusions of the intracerebral vessels has established itself as the gold standard in therapy, which is why knowledge of the most important complications and their management is essential for interventionalists.

Practical Recommendations: Intracranial hemorrhages, which include intracerebral and subarachnoid hemorrhages, are dreaded complications that significantly worsen the clinical outcome.

Effectiveness of fractionated rituximab in preventing tumor lysis syndrome in aggressive B-cell lymphoma: Insights from real-life clinical practice.

Background: Tumor lysis syndrome (TLS) is a potentially life-threatening condition resulting from the rapid destruction of malignant cells, leading to electrolyte imbalances and severe complications, such as acute kidney injury, arrhythmias, and seizures. TLS can be managed through hyperhydration, urate-lowering treatments, and a steroid prophase strategy.

Aims: This study aims to explore the impact of fractionated rituximab, an anti-CD20 antibody, on the occurrence and severity of TLS during the initial cycle in patients with aggressive B-cell non-Hodgkin lymphoma (B-NHL).

[Drug therapy for acute and elective stent angioplasty].

Clinical Issue: Carotid artery stenoses are constrictions of the common carotid artery and the internal carotid artery. They cause around 15% of all cerebral ischemia, which is why their detection and correct treatment play an important role in clinical practice.

Practical Recommendations: Depending on the severity and clinical symptoms, carotid artery stenosis is treated conservatively, surgically or endovascularly by means of stent angioplasty.

Study of Lipid-Modifying Therapy Use and Risk Factor Management in Patients With Dyslipidemia in Duhok City/Kurdistan Region, Iraq.

Introduction Atherosclerotic cardiovascular disease (ASCVD) is a leading cause of mortality globally, according to the World Health Organization. Research from the Middle East indicates that cardiovascular disease-related deaths in the region are among the highest worldwide. Multiple risk factors contribute to ASCVD.

[Duration of antibiotic therapy in febrile neutropenia].

Febrile neutropenia is a frequent complication of cancer treatment and is associated with an increased risk of morbidity and mortality. However, standardization in the management of neutropenic fever has led to a reduction in its complications. The duration and type of antibiotic therapy differ according to guidelines, particularly in cases of febrile neutropenia of unknown origin.

Clinical and molecular features in a cohort of Middle Eastern patients with epidermolysis bullosa.

Background: Epidermolysis bullosa (EB) features skin and mucosal fragility due to pathogenic variants in genes encoding components of the cutaneous basement membrane. Based on the level of separation within the dermal-epidermal junction, EB is sub-classified into four major types including EB simplex (EBS), junctional EB (JEB), dystrophic EB (DEB), and Kindler EB (KEB) with 16 EB-associated genes reported to date.

Methods: We ascertained a cohort of 151 EB patients of various Middle Eastern ethnic backgrounds.

Dominant frontonasal dysplasia with ectodermal defects results from increased activity of ALX4.

Frontonasal dysplasia (FND) refers to a group of rare developmental disorders characterized by abnormal morphology of the craniofacial region. We studied a family manifesting with clinical features typical for FND2 including neurobehavioral abnormalities, hypotrichosis, hypodontia, and facial dysmorphism. Whole-exome sequencing analysis identified a novel heterozygous frameshift insertion in ALX4 (c.

Defective cathepsin Z affects EGFR expression and causes autosomal dominant palmoplantar keratoderma.

Background: The abnormal function of epidermal growth factor receptor (EGFR) has recently been shown to underlie various disorders of cornification.

Objectives: To delineate the genetic basis of a novel dominant form of palmoplantar keratoderma (PPK).

Methods: Whole-exome (WES) and direct sequencing, quantitative real-time polymerase chain reaction, protein modelling, confocal immunofluorescence microscopy, immunoblotting, three-dimensional skin equivalents and an enzyme activity assay were used to delineate the genetic basis of a novel dominant form of PPK.

A novel mathematical model of the badminton smash: simulation and modeling in biomechanics.

Applied physics and computer methods in biomechanics have been extensively used in sports science research, including performance and biomechanics analysis. The Brachistochrone problem, which expresses the curve that an object draws quickly under gravitational forces in a vertical position, is one of the most widely used studies in classical mechanics. A similar problem arises when a badminton player intends to hit a smash with the shortest shot time.

Anatomical Description of Loggerhead Turtle () and Green Iguana () Skull by Three-Dimensional Computed Tomography Reconstruction and Maximum Intensity Projection Images.

The growing interest in reptiles has posed a challenge to veterinary clinicians due to the lack of a standardized system to perform anatomical studies similar to those used for dogs and cats. In this paper, we have attempted to describe, employing computed tomography and subsequent three-dimensional reconstructions, the normal anatomical features that comprise the skulls of two species of reptiles: the loggerhead turtle () and the green iguana (). Computed tomography (CT) and subsequent image processing allowed the identification of the bony structures that comprise the head of these species.

Cutaneous and Developmental Effects of Overexpression in Zebrafish.

Background: Gain-of-function mutations in have recently been shown to be involved in the pathogenesis of psoriasis and pityriasis rubra pilaris (PRP). Those mutations were found to activate the NF-kB signaling pathway.

Objective: Zebrafish is often used to model human diseases in general, and in skin disorders more particularly.

Autosomal recessive congenital ichthyosis caused by a pathogenic missense variant in CLDN1.

Autosomal recessive congenital ichthyosis (ARCI) refers to a large and genetically heterogenous group of non-syndromic disorders of cornification featuring diffuse scaling. Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis (ILVASC) syndrome is a rare autosomal recessive syndromic form of ichthyosis. The disease usually results from premature termination codon-causing pathogenic variants in CLDN1 encoding CLAUDIN-1 (CLDN1).

A unique skin phenotype resulting from a large heterozygous deletion spanning six keratin genes.

The phenotypic spectrum of genodermatoses is continuously expanding. Three siblings were referred because of a highly unusual phenotype comprising alopecia, dystrophic nails, palmoplantar keratoderma and trauma-induced skin blistering. Whole-exome sequencing analysis identified a heterozygous large genomic alteration of around 116 0000 bp resulting in the deletion of the KRT9, KRT14, KRT15, KRT16 and KRT19 genes, as well as part of KRT17.

Up-regulation of ST18 in pemphigus vulgaris drives a self-amplifying p53-dependent pathomechanism resulting in decreased desmoglein 3 expression.

Pemphigus vulgaris (PV) is a life-threatening autoimmune mucocutaneous blistering disease which is to a large extent genetically determined, and results, at least in part, from the deleterious activity of autoantibodies directed against desmoglein (DSG)3, a prominent intra-epidermal adhesion molecule. Those autoantibodies lead to decreased membranal DSG3 expression in keratinocytes (KCs), thereby destabilizing cell-cell adhesion within the epidermis and leading to blister formation. We previously showed that rs17315309, a strong risk variant for PV within the promoter of the ST18 transcription factor gene, promotes epidermal ST18 up-regulation in a p53/p63-dependent manner.

Efficacy and Safety of PCSK9 Monoclonal Antibodies in Patients With Diabetes.

Purpose: Proprotein convertase subtilisin/kexin type 9 (PCSK9) inhibitors are novel drugs that have proven efficacy in improving cardiovascular outcomes. Roles for the PCSK9 molecule in metabolic pathways beyond LDL receptor processing and cholesterol homeostasis are well established. PCSK9 genetic variants associated with lower LDL-C levels correlate with a higher incidence of type 2 diabetes (T2DM), calling into question the appropriateness of these drugs in patients with T2DM and those at high risk of developing diabetes, and whether cardiovascular benefit seen with PCSK9 inhibitors might be offset by resultant dysglycemia.

Loss-of-function variants in KLF4 underlie autosomal dominant palmoplantar keratoderma.

Purpose: Palmoplantar keratodermas (PPKs) form a group of disorders characterized by thickening of palm and sole skin. Over the past 2 decades, many types of inherited PPKs have been found to result from abnormal expression, processing, or function of adhesion proteins.

Methods: We used exome and direct sequencing to detect causative pathogenic variants.

[Basilar skull fractures].

Clinical Issue: Basilar skull fractures are fractures of the lower part of the skull. They make up about 20% of all skull fractures and are mainly caused by high-velocity blunt trauma and falls from high heights. Depending on their precise location, they can be divided into frontobasal, laterobasal and frontolateral fractures.

Molecular epidemiology of non-syndromic autosomal recessive congenital ichthyosis in a Middle-Eastern population.

Autosomal recessive congenital ichthyosis (ARCI) is a rare and heterogeneous skin cornification disorder presenting with generalized scaling and varying degrees of erythema. Clinical manifestations range from lamellar ichthyosis (LI), congenital ichthyosiform erythroderma (CIE) through the most severe form of ARCI, Harlequin ichthyosis (HI). We used homozygosity mapping, whole-exome and direct sequencing to delineate the relative distribution of pathogenic variants as well as identify genotype-phenotype correlations in a cohort of 62 Middle Eastern families with ARCI of various ethnic backgrounds.

Epidermolytic epidermal nevus caused by a somatic mutation in KRT2.

Superficial epidermolytic ichthyosis (formerly Ichthyosis bullosa of Siemens) is an uncommon condition caused by dominant mutations in KRT2 encoding keratin 2. Epidermolytic epidermal nevus due to somatic mutations in KRT2 is even rarer. Here, we report the third case of KRT2-associated epidermal nevus and review the literature.

ST18 affects cell-cell adhesion in pemphigus vulgaris in a tumour necrosis factor-α-dependent fashion.

Background: Pemphigus vulgaris (PV) is a life-threatening mucocutaneous autoimmune blistering disease. We previously showed that genetic variants within the ST18 gene promoter area confer a sixfold increase in the propensity to develop PV. ST18, a transcription factor, was found to be overexpressed in the epidermis of patients with PV.

Molecular epidemiology of pachyonychia congenita in the Israeli population.

Background: Pachyonychia congenita (PC) is a rare autosomal dominant disorder featuring palmoplantar keratoderma, nail dystrophy, oral leucokeratosis, pilosebaceous cysts and natal teeth. PC results from dominant mutations in one of five genes (KRT6A, KRT6B, KRT6C, KRT16, KRT17) encoding keratin proteins.

Aim: To delineate the clinical and genetic features of PC in a series of Israeli patients.

[Acoustic neuromas : Differential diagnoses].

Clinical Issue: Acoustic neuromas in adults are the most common infratentorial tumors that originate from the Schwann's cells of the vestibular part of the eighth cranial nerve and are clinically noticeable through neurological deficits, such as unilateral hypoacusis, tinnitus, dizziness and unilateral facial nerve palsy. Due to the widespread use of computed tomography (CT) and magnetic resonance imaging (MRI), acoustic neuromas can now be diagnosed with a high rate of sensitivity and specificity; however, there are a number of possible differential diagnoses, such as meningioma, epidermoid and metastases as well as a number of less common diagnoses, such as peripheral nerve sheath tumors, sarcoidosis/neuritis and lipomas, which are sometimes difficult to distinguish from acoustic neuromas. Particularly smaller findings can often only be differentiated with the aid of a histopathological investigation.

Palmoplantar keratoderma caused by a missense variant in CTSB encoding cathepsin B.

Background: Palmoplantar keratoderma (PPK) refers to a large group of disorders characterized by extensive genetic and phenotypic heterogeneity. PPK diagnosis therefore increasingly relies upon genetic analysis.

Aim: To delineate the genetic defect underlying a case of diffuse erythematous PPK associated with peeling of the skin.

Phenotypic suppression of acral peeling skin syndrome in a patient with autosomal recessive congenital ichthyosis.

Autosomal recessive congenital ichthyosis (ARCI) manifests with generalized scaling often associated with generalized erythema. Mutations in at least 13 different genes have been reported to cause ARCI. Acral peeling skin syndrome (APSS) is a rare autosomal recessive disorder manifesting with peeling over the distal limbs and dorsal surfaces of hands and feet.

Loss-of-function variants in C3ORF52 result in localized autosomal recessive hypotrichosis.

Purpose: Localized autosomal recessive hypotrichosis (LAH) has been associated with pathogenic variants in DSG4, encoding a desmosomal protein as well as in LIPH and LPAR6, encoding respectively lipase H, which catalyzes the formation of 2-acyl-lysophosphatidic acid (LPA), and lysophosphatidic acid receptor 6, a receptor for LPA. LPA promotes hair growth and differentiation. In this study we aimed at delineating the genetic basis of LAH in patients without pathogenic variants in these three genes.