Cytoskeletal network dysregulation is a pivotal determinant in various immunodeficiencies and autoinflammatory conditions. This report reviews the significance of actin remodeling in disease pathogenesis, focusing on the Arp2/3 complex and its regulatory subunit actin related protein 2/3 complex subunit 1B (ARPC1B). A spectrum of cellular dysfunctions associated with ARPC1B deficiency, impacting diverse immune cell types, is elucidated. The study presents a patient featuring recurrent and persistent eosinophilia attributed to homozygous ARPC1B mutation alongside concomitant compound heterozygous cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations. We used ARPC1B antibody to stain the patient's peripheral blood lymphocytes and those of the control. The defect in the ARPC1B gene in the present patient caused absent/low expression by immunofluorescence microscopy. The intricate interplay between cytoskeletal defects and immunological manifestations underscores the complexity of disease phenotypes, warranting further exploration for targeted therapeutic strategies.
Humans ; Actin-Related Protein 2-3 Complex/genetics* ; Cystic Fibrosis Transmembrane Conductance Regulator/genetics* ; Eosinophilia/genetics* ; Homozygote ; Mutation ; Recurrence

Antidepressant drugs can be advantageous in treating psychiatric and non-psychiatric illnesses, including spinal disorders. However, spine surgeons remain unfamiliar with the advantages and disadvantages of the use of antidepressant drugs as a part of the medical management of diseases of the spine. Our review article describes a systematic method using the PubMed/Medline database with a specific set of keywords to identify such benefits and drawbacks based on 17 original relevant articles published between January 2000 and February 2018; this provides the community of spine surgeons with available cumulative evidence contained within two tables illustrating both observational (10 studies; three cross-sectional, three case-control, and four cohort studies) and interventional (seven randomized clinical trials) studies. While tricyclic antidepressants (e.g., amitriptyline) and duloxetine can be effective in the treatment of neuropathic pain caused by root compression, venlafaxine may be more appropriate for patients with spinal cord injury presenting with depression and/or nociceptive pain. Despite the potential associated consequences of a prolonged hospital stay, higher cost, and controversial reports regarding the lowering of bone mineral density in the elderly, antidepressants may improve patient satisfaction and quality of life following surgery, and reduce postoperative pain and risk of delirium. The preoperative treatment of preexisting psychiatric diseases, such as anxiety and depression, can improve outcomes for patients with spinal cord injury-related disabilities; however, a preoperative platelet function assay is advocated prior to major spine surgical procedures to protect against significant intraoperative blood loss, as serotonergic antidepressants (e.g., selective serotonin reuptake inhibitors) and bupropion can increase the likelihood of bleeding intraoperatively due to drug-induced platelet dysfunction. This comprehensive review of this evolving topic can assist spine surgeons in better understanding the benefits and risks of antidepressant drugs to optimize outcomes and avoid potential hazards in a spine surgical setting.
Aged ; Antidepressive Agents ; Antidepressive Agents, Tricyclic ; Anxiety ; Blood Platelets ; Bone Density ; Bupropion ; Case-Control Studies ; Cohort Studies ; Delirium ; Depression ; Duloxetine Hydrochloride ; Hemorrhage ; Humans ; Length of Stay ; Methods ; Neuralgia ; Nociceptive Pain ; Pain, Postoperative ; Patient Satisfaction ; Quality of Life ; Risk Assessment ; Serotonin ; Spinal Cord ; Spinal Cord Injuries ; Spine ; Surgeons ; Venlafaxine Hydrochloride

BACKGROUND/AIMS: Familial Mediterranean fever (FMF) is an autosomal recessive disorder characterized by attacks of fever and diffuse abdominal pain. The primary concern with this presentation is to distinguish it from acute appendicitis promptly. Thus, we aimed to evaluate the role of neutrophil lymphocyte ratio (NLR) to leverage the differential diagnosis of acute FMF attack with histologically proven appendicitis. METHODS: Twenty-three patients with histologically confirmed acute appendicitis and 88 patients with acute attack of FMF were included in the study. NLR, C-reactive protein and other hematologic parameters were compared between the groups. RESULTS: Neutrophil to lymphocyte ratio was significantly higher in patients with acute appendicitis compared to the FMF attack group (8.24 +/- 6.31 vs. 4.16 +/- 2.44, p = 0.007). The performance of NLR in diagnosing acute appendicitis with receiver operating characteristic analysis with a cut-off value of 4.03 were; 78% sensitivity, 62% specificity, and area under the curve 0.760 (95% confidence interval, 0.655 to 0.8655; p < 0.001). CONCLUSIONS: This study showed that NLR, the simple and readily available inflammatory marker may have a useful role in distinguishing acute FMF attack from acute appendicitis.
Adult ; Appendicitis/blood/*diagnosis ; Area Under Curve ; Biomarkers/blood ; Blood Sedimentation ; Diagnosis, Differential ; Familial Mediterranean Fever/blood/*diagnosis ; Female ; Humans ; Inflammation Mediators/blood ; Lymphocyte Count ; *Lymphocytes ; Male ; *Neutrophils ; Platelet Count ; Predictive Value of Tests ; ROC Curve ; Reproducibility of Results ; Retrospective Studies ; Young Adult

Spinal stabilization with fusion is the widely used method for traumatic or pathologic fracture of spine, spinal stenosis, and spondylolisthesis. Complications may emerge during or after the operations. Infection, hematoma and neurological deficits are early noticed findings. Screw and/or rod fractures present in long-term after surgery. Rod migration in out of the spinal column is a rare entity. A 67-year-old woman was visited our clinic for right leg pain. She had a previous spinal instrumentation surgery for spondylolisthesis in another center 6 years before. After radiological work-up, a distally migrated rod piece was observed in the retroperitoneal portion. The patient was operated for degenerative change; old instruments were replaced and extended to the L2 level with posterior spinal fusion. After the operation, her right leg pain improved. The asymptomatic migrated rod piece has regularly been followed clinically and radiologically, since then. Although it has rarely been reported, migration of the instrumentation material should be kept in mind. Spinal fixation without fusion makes the mechanical system vulnerable to motion effects of spine, especially in a degenerative and osteoporotic background. Long-term, even life-long follow-up is necessary for late term complications.
Aged ; Female ; Follow-Up Studies ; Fractures, Spontaneous ; Hematoma ; Humans ; Leg ; Spinal Fusion ; Spinal Stenosis ; Spine ; Spondylolisthesis