Patients' Preferences on Different Types of Esthetic Treatment in Saudi Arabia.

AIM: Dental cosmetics have always had a large-scale impact on an individual's social life. A variety of dental treatment regimens ranging from composite resins to ceramics are available to enhance the oral esthetic appearance. MATERIALS AND METHODS: The present study aimed to identify the preferred dental cosmetic treatment regimen used in Saudi Arabia. The sample included 434 patients, who were asked to mention their preferred esthetic treatment. A close-ended, predesigned questionnaire was used to collect the data. The questionnaire was made using the survey monkey which was distributed to the study participants using social networking sites like WhatsApp and E-mail. The response data were analyzed using SPSS. RESULTS: Out of 434 respondents included in the study, 140 were males and 294 were females. The majority of the participants had taken some form of esthetic dental treatment (n = 230); of these composite buildups were the most common (n = 132), followed by bleaching (n = 84), veneers (n = 31) and prepless veneers (lumineers) (n = 11). It was noted that a majority of the surveyed population preferred permanent treatment modalities (n = 304) rather than temporary treatment strategies (n = 33). CONCLUSION: A significant proportion of participants preferred taking permanent treatment over the temporary treatment regimens. CLINICAL SIGNIFICANCE: Understanding patient's perception regarding their dental esthetics helps the clinicians to plan treatments which are patient compliant and elicits a higher level of therapeutic satisfaction.

Multiple Family Members With Delayed Cord Separtion and Combined Immunodeficiency With Novel Mutation in IKBKB.

Background: Inhibitor of kappa kinase 2 (IKK2) deficiency is a recently described combined immunodeficiency. It undermines the nuclear factor-kappa B (NF-κB) activation pathway. Methods: The clinical and immunological data of four patients diagnosed with combined immunodeficiency (CID) from two related Saudi families were collected. Autozygosity mapping of all available members and whole exome sequencing of the index case were performed to define the genetic etiology. Results: The patients had early onset (2-4 months of age) severe infections caused by viruses, bacteria, mycobacteria, and fungi. They all had hypogammaglobulinemia and low absolute lymphocyte count. Their lymphocytes failed to respond to PHA mitogen stimulation. A novel homozygous non-sense mutation in the IKBKB gene, c.850C>T (p. Arg284*) was identified in the index patient and segregated with the disease in the rest of the family. He underwent hematopoietic stem cell transplantation (HSCT) from a fully matched sibling with no conditioning. The other three patients succumbed to their disease. Interestingly, all patients had delayed umbilical cord separation. Conclusion: IKK2 deficiency causes CID with high mortality. Immune reconstitution with HSCT should be considered as early as possible. Delayed umbilical cord separation in CID patients may be a clue to IKK2 deficiency.

JAK Inhibitor Therapy in a Child with Inherited USP18 Deficiency.

Deficiency of ubiquitin-specific peptidase 18 (USP18) is a severe type I interferonopathy. USP18 down-regulates type I interferon signaling by blocking the access of Janus-associated kinase 1 (JAK1) to the type I interferon receptor. The absence of USP18 results in unmitigated interferon-mediated inflammation and is lethal during the perinatal period. We describe a neonate who presented with hydrocephalus, necrotizing cellulitis, systemic inflammation, and respiratory failure. Exome sequencing identified a homozygous mutation at an essential splice site on USP18. The encoded protein was expressed but devoid of negative regulatory ability. Treatment with ruxolitinib was followed by a prompt and sustained recovery. (Funded by King Saud University and others.).

Herpes simplex encephalitis in children with autosomal recessive and dominant TRIF deficiency.

Herpes simplex encephalitis (HSE) is the most common sporadic viral encephalitis of childhood. Autosomal recessive (AR) UNC-93B and TLR3 deficiencies and autosomal dominant (AD) TLR3 and TRAF3 deficiencies underlie HSE in some children. We report here unrelated HSE children with AR or AD TRIF deficiency. The AR form of the disease was found to be due to a homozygous nonsense mutation that resulted in a complete absence of the TRIF protein. Both the TLR3- and the TRIF-dependent TLR4 signaling pathways were abolished. The AD form of disease was found to be due to a heterozygous missense mutation, resulting in a dysfunctional protein. In this form of the disease, the TLR3 signaling pathway was impaired, whereas the TRIF-dependent TLR4 pathway was unaffected. Both patients, however, showed reduced capacity to respond to stimulation of the DExD/H-box helicases pathway. To date, the TRIF-deficient patients with HSE described herein have suffered from no other infections. Moreover, as observed in patients with other genetic etiologies of HSE, clinical penetrance was found to be incomplete, as some HSV-1-infected TRIF-deficient relatives have not developed HSE. Our results provide what we believe to be the first description of human TRIF deficiency and a new genetic etiology for HSE. They suggest that the TRIF-dependent TLR4 and DExD/H-box helicase pathways are largely redundant in host defense. They further demonstrate the importance of TRIF for the TLR3-dependent production of antiviral IFNs in the CNS during primary infection with HSV-1 in childhood.

Challeges in the management of severe asthma: role of current and future therapies.

Severe asthma is a complex and heterogeneous phenotype characterized by persistent symptoms and poor control. While some patients respond to high doses of inhaled corticosteroids in combination with long-acting beta-agonists, a significant subset require oral corticosteroids to achieve symptom control. This issue has led to the development of alternative therapeutic strategies for severe asthma. This article provides an overview of current therapeutic strategies and suggests how they can be best applied to the treatment of severe asthma. The article then reviews alternative therapeutic strategies including macrolide antibiotics, biologic agents, modulators of signal transduction pathways and bronchial thermoplasty. The challenge remains to determine the appropriate phenotype for each therapeutic strategy in view of the heterogeneity of severe asthma.