Case Report: A novel CXCR4 variant (p.S341Y) in a family with a pathogenic NFKB1 variant and variable clinical manifestations.

WHIM syndrome is typically caused by C-terminal gain-of-function variants in , yet clinical heterogeneity suggests additional genetic modifiers. We investigated a family in which the 22-year-old proband harbored two heterozygous variants: a novel missense variant, c.1022C>A (p.

Palatal donor site management using tissue adhesives with adjunctive coconut oil in a randomized clinical trial.

Management of the complications occurring in the donor area after epithelialized gingival graft (EGG) harvesting still poses a challenge for clinicians. This study aimed to evaluate the influence of gelatin sponge (GS), cyanoacrylate (CY), and coconut oil (CO) combination in comparison with GS + CY in donor site management. Fifty EGG were harvested from the lateral palate in 50 patients, who were subsequently randomized to receive the GS + CY (control) or GS + CY + CO combination (test).

Factors associated with and kinetics of anti-IFN-α autoantibodies in deficiency.

Background: Autoantibodies against IFN-α (anti-IFN-α) have been reported in recombinase activating gene (RAG) deficiency, attributed to impaired central and peripheral T-cell/B-cell tolerance. However, the clinical features, especially viral infections, associated with these autoantibodies at baseline, their kinetics over time, and their response to hematopoietic cell transplantation are not well defined.

Objective: We described the clinical and immunologic findings linked to anti-IFN-α IgG in RAG deficiency and tracked its kinetics longitudinally, including in those who underwent hematopoietic cell transplantation.

Immunopathological and microbial signatures of inflammatory bowel disease in partial RAG deficiency.

Partial RAG deficiency (pRD) can manifest with systemic and tissue-specific immune dysregulation, with inflammatory bowel disease (IBD) in 15% of the patients. We aimed at identifying the immunopathological and microbial signatures associated with IBD in patients with pRD and in a mouse model of pRD (Rag1w/w) with spontaneous development of colitis. pRD patients with IBD and Rag1w/w mice showed a systemic and colonic Th1/Th17 inflammatory signature.

Clinicopathologic Features and the Spectrum of Myelokathexis in Warts, Hypogammaglobulinemia, Infections, Myelokathexis Syndrome.

Warts, hypogammaglobulinemia, infections, myelokathexis (WHIM) syndrome is a rare primary immunodeficiency disorder predominantly caused by germline CXCR4 variants. Bone marrow (BM) evaluation showing myelokathexis helps to establish the diagnosis of WHIM syndrome, but unfamiliarity with pertinent diagnostic features and variability in morphologic and clinical findings may result in disease underrecognition. We aimed to characterize the clinical, BM, and peripheral blood (PB) features of 30 patients with germline CXCR4 variants, including genotype-phenotype analysis and correlation between morphologic features and functional CXCR4 receptor internalization defect.

Development of an empathy scale in nurses.

Objective: To develop an empathy scale to measure the empathy in nurses.

Materials And Methods: The sample of the study were collected between March and May in 2023 from 720 nurses working in private and state hospitals in İstanbul. Both exploratory factor analysis and confirmatory factor analysis were carried out.

Annexin levels in GCF determine the imbalance of periodontal inflammatory regulation.

Objective: Annexin-1 (ANXA1), a member of the annexin family, plays a role in the resolution of inflammation and the regulation of anti-inflammatory responses, while annexin-2 (ANXA2) is involved in the initiation of the inflammatory responses. The aim of this study was to determine the effects of annexin family (ANXA1 and ANXA2) in periodontal disease.

Methods: Healthy participants (n:25) and stage III, grade B periodontitis (n:25) patients enrolled for this study.

Behçet's disease modifies the gingival inflammatory response.

Background: Behçet's disease (BD) pathogenesis involves severe outcomes such as blindness, central nervous system manifestations, and deep venous thrombosis that impacts systemic and local inflammatory changes. We tested the hypothesis that BD negatively affects gingival health and increases the severity of gingivitis.

Methods: The study included 37 BD patients with gingivitis without any sign of periodontitis.

The link between cutaneous allodynia and pain/sensitivity in teeth and gums during migraine episodes.

Background: Migraine is one of the most common primary headaches worldwide, while toothache is the most common pain in the orofacial region. The association of migraine pain, and oral pain is unknown. This study aims to investigate the association between migraine and dental and gingival pain with the presence of allodynia.

Expanding CXCR4 variant landscape in WHIM syndrome: integrating clinical and functional data for variant interpretation.

Warts, Hypogammaglobulinemia, Infections, Myelokathexis (WHIM) syndrome is a rare, combined immunodeficiency disease predominantly caused by gain-of-function variants in the gene that typically results in truncation of the carboxyl terminus of C-X-C chemokine receptor type 4 (CXCR4) leading to impaired leukocyte egress from bone marrow to peripheral blood. Diagnosis of WHIM syndrome continues to be challenging and is often made through clinical observations and/or genetic testing. Detection of a pathogenic variant in an affected individual supports the diagnosis of WHIM syndrome but relies on an appropriate annotation of disease-causing variants.

Neopterin, 7,8-dihydroneopterin, total neopterin levels and their ratio in periodontitis: New dilemma.

Objective: Determine the saliva and serum levels of neopterin (NP) and 7,8-dihydroneopterin (7,8NP) in periodontitis patients and to reveal the relationship of these data with clinical periodontal parameters.

Materials And Methods: Twenty-three patients with stage III/grade B periodontitis and 23 periodontally healthy individuals were included. Clinical periodontal measurements were recorded (plaque index, pocket depth, clinical attachment loss & bleeding on probing).

Oral and gut microbial profiling in periodontitis and Parkinson's disease.

Objectives: We tested the hypothesis that Parkinson's disease (PA) alters the periodontitis-associated oral microbiome.

Method: Patients with periodontitis with Parkinson's disease (PA+P) and without PA (P) and systemically and periodontally healthy individuals (HC) were enrolled. Clinical, periodontal and neurological parameters were recorded.

Clinical and Treatment History of Patients with Partial DiGeorge Syndrome and Autoimmune Cytopenia at Multiple Centers.

Background: Patients with partial DiGeorge syndrome (pDGS) can present with immune dysregulation, the most common being autoimmune cytopenia (AIC). There is a lack of consensus on the approach to type, combination, and timing of therapies for AIC in pDGS. Recognition of immune dysregulation early in pDGS clinical course may help individualize treatment and prevent adverse outcomes from chronic immune dysregulation.

Occurrence of radiopaque and mixed lesions at periapical region in patients with rheumatoid arthritis and ankylosing spondylitis: a retrospective study.

Background: Rheumatoid arthritis (RA) and ankylosing spondylitis (AS) have different effects on bones, cartilage and joints, sometimes destroying the spine and joints, and other times causing new bone formation. This study aimed to evaluate the effects of RA and AS on the types (radiolucent, radiopaque and mixed) of periapical lesions in jaw bones.

Methods: This study included 708 individuals (97 with AS, 327 with RA and 284 healthy controls (C)) and a total of 17,118 teeth (AS: 2,442; RA: 7,638; C: 7,038).

Parkinson's disease alters the composition of subgingival microbiome.

Aim: The current study aimed to test the hypothesis that Parkinson's disease exacerbates periodontitis by altering its microbiome.

Materials And Methods: Clinical periodontal parameters were recorded. Subgingival samples from healthy controls, periodontitis patients (PD), and Parkinson's patients with periodontitis (PA+PD) were analyzed using the checkerboard DNA-DNA hybridization technique for targeting 40 bacterial species typically associated with periodontal disease and health.

Evaluation of the effect of sickle cell disease on the mandibular bone of children and adolescents by image texture and radiomorphometric analysis.

Objectives: Sickle cell disease (SCD) can cause osteoporotic changes in the jaw bones. In this study, it was aimed to evaluate possible bone changes using fractal analysis (FA) and morphometric analyses in dental panoramic radiographs of children and adolescents diagnosed with both homozygous and heterozygous forms of SCD.

Methods: Sixty-five individuals (33 SCD, 32 controls) aged 6-17 years were included in the study.

A comparison of online and face-to-face modalities in endodontic preclinical education: A retrospective study.

Purpose: The aim of this study was to evaluate the competency of undergraduate students in following the principles of access cavity preparation and the radiographic quality of root canal filling in maxillary molar teeth in either online or face-to-face education courses during the novel coronavirus disease 2019 (COVID-19) pandemic.

Methods: A total of 178 extracted maxillary molar teeth that underwent endodontic dental treatment by undergraduate students who completed the endodontic preclinical practice course online or face-to-face during the COVID-19 pandemic were retrospectively analyzed. A visual access cavity examination determined the form, width of the cavity, deroofing of the pulp chamber, and the presence of a perforation.

Parkinson's disease is positively associated with periodontal inflammation.

Background: Parkinson's disease (PA) affects 1% of the global population above 60 years. PA pathogenesis involves severe neuroinflammation that impacts systemic and local inflammatory changes. We tested the hypothesis that PA is associated with periodontal tissue inflammation promoting a greater systemic inflammatory burden.

Do arginine metabolites have a role in periodontitis due to smoking? A new perspective.

Objectives: Cigarette consumption is common around the world and besides its negative effects on health, and its effects on periodontitis draw attention. Arginine metabolites are involved in the pathogenesis of several systemic inflammatory diseases' including cardiovascular diseases. Our aim was to determine periodontitis and healthy individuals' arginine metabolites and IL-6 levels in saliva and serum and to evaluate those according to smoking status.

Can we identify WHIM in infancy? Opportunities with the public newborn screening process.

Newborn screening (NBS) for severe combined immunodeficiency (SCID) utilizing T-cell receptor excision circles (TRECs) has been implemented in all 50 states as of December 2018 and has been transformative for the clinical care of SCID patients. Though having high sensitivity for SCID, NBS-SCID has low specificity, therefore is able to detect other causes of lymphopenia in newborns including many inborn errors of immunity (IEIs). In a recent study, three of six newborns later diagnosed with Warts, Hypogammaglobulinemia, Infections, and Myelokathexis (WHIM) syndrome were found to have a low TRECs and lymphopenia at birth.

Disease Progression of WHIM Syndrome in an International Cohort of 66 Pediatric and Adult Patients.

Warts, hypogammaglobulinemia, infections, and myelokathexis (WHIM) syndrome (WS) is a combined immunodeficiency caused by gain-of-function mutations in the C-X-C chemokine receptor type 4 (CXCR4) gene. We characterize a unique international cohort of 66 patients, including 57 (86%) cases previously unreported, with variable clinical phenotypes. Of 17 distinct CXCR4 genetic variants within our cohort, 11 were novel pathogenic variants affecting 15 individuals (23%).

Topical Sevoflurane: A Novel Treatment for Chronic Pain Caused by Venous Stasis Ulcers.

In the US, an estimated 1 - 2% of chronic venous insufficiency (CVI) patients (of 6 - 7 million nationwide) develop at least one venous stasis ulcer (VSU) during their illness. Of these, approximately 40% develop subsequent ulcers, making VSU prognostically poor. Current management of VSU is costly, with poor prognosis, high recurrence rate, inadequate pain management, and significantly reduced quality of life (QoL).