Early‐onset inflammatory bowel disease as a model disease to identify key regulators of immune homeostasis mechanisms

Rare, monogenetic diseases present unique models to dissect gene functions and biological pathways, concomitantly enhancing our understanding of the etiology of complex (and often more common) traits. Although inflammatory bowel disease (IBD) is a generally prototypic complex disease, it can also manifest in an early‐onset, monogenic fashion, often following Mendelian modes of inheritance. Recent advances in genomic technologies have spurred the identification of genetic defects underlying rare, very early‐onset IBD (VEO‐IBD) as a disease subgroup driven by strong genetic influence, pinpointing key players in the delicate homeostasis of the immune system in the gut and illustrating the intimate relationships between bowel inflammation, systemic immune dysregulation, and primary immunodeficiency with increased susceptibility to infections. As for other human diseases, it is likely that adult‐onset diseases may represent complex diseases integrating the effects of host genetic susceptibility and environmental triggers. Comparison of adult‐onset IBD and VEO‐IBD thus provides beautiful models to investigate the relationship between monogenic and multifactorial/polygenic diseases. This review discusses the present and novel findings regarding monogenic IBD as well as key questions and future directions of IBD research.     

How primary care reforms influenced health indicators in Manisa district in Turkey: Lessons for general practitioners

Background: Turkish health reforms began in 2003 and brought some significant changes in primary care services. Few studies in Turkey compare the shift from health centres (HC) to family physicians (FP) approach, which was initiated by reforms.

Objectives: This study compares health status indicators during the HC period before reforms (2003–2007) and the FP period after reforms (2008–2012) in Turkey.

Methods: This study encompasses time series data consisting of the results of a 10-year assessment (2003–2012) in Manisa district. All the data were obtained electronically and by month. The intersection points of the regression curves of these two periods and the beta coefficients were compared using segmented linear regression analysis.

Results: The mean number of follow-up per person/year during the HC period in infants (10.5), pregnant women (6.6) and women (1.8) was significantly higher than the mean number of follow-up during the FP period in infants (6.7), pregnant women (5.6) and women (0.9). Rates of BCG and measles vaccinations were significantly higher during the FP period; however, rates of HBV and DPT were same. The mean number of outpatient services per person/year during the FP period (3.3) was significantly higher than HC period (2.8). Within non-communicable diseases, no difference was detected for hypertension prevalence. Within communicable diseases, there was no difference for rabies suspected bites but acute haemorrhagic gastroenteritis significantly decreased. The infant mortality rate and under five-year child mortality rate significantly increased during the FP period.

Conclusion: Primary care services should be reorganized and integrated with public health services.     

Non-surgical root canal treatment of Dens invaginatus: reports of three cases

Dens invaginatus is a rare developmental malformation of teeth showing a deep infolding of enamel and dentine which may extend deep into the root. To date, conventional root canal therapy, endodontic surgery and extraction have been reported as treatment modalities, when the pulpo-dentinal complex of such teeth is affected. In the present report, non-surgical endodontic treatment of three maxillary lateral incisors with invaginatus (DI) is discussed. The Tri Auto ZX rotary system was used for shaping the root canals of two affected teeth and the Profile system was used in the third. Teeth with periradicular lesions received calcium hydroxide as an interim therapy. Two teeth were obturated with gutta percha points and AH Plus sealer using cold lateral compaction. In the third case, obturation was accomplished using a coated carrier system (Thermafil) due to the specific shape of the root canal system. Twelve months postoperatively all teeth were asymptomatic with resolution of the periapical radiolucency on two affected teeth, as confirmed radiographically. Healing was achieved without any need for further surgical intervention.     

An unusual foreign body (suturing needle) in the tonsillar region

This case report describes the presence of a foreign body (surgical needle) in the tonsillar area. The needle was overlooked during surgery. Following the surgery, the patient had no pain or other complaints related to the surgical site. There are only a few reported cases of forgotten surgical materials in operation sites in the literature.     

Depression, automatic thoughts, alexithymia, and assertiveness in patients with tension-type headache

OBJECTIVE: The role of psychological factors related to headache has long been a focus of investigation. The aim of this study was to evaluate depression, automatic thoughts, alexithymia, and assertiveness in persons with tension-type headache and to compare the results with those from healthy controls. METHODS: One hundred five subjects with tension-type headache (according to the criteria of the International Headache Society classification) and 70 controls were studied. The Beck Depression Inventory, Automatic Thoughts Scale, Toronto Alexithymia Scale, and Rathus Assertiveness Schedule were administered to both groups. Sociodemographic variables and headache features were evaluated via a semistructured scale. RESULTS: Compared with healthy controls, the subjects with headache had significantly higher scores on measures of depression, automatic thoughts, and alexithymia and lower scores on assertiveness. Subjects with chronic tension-type headache had higher depression and automatic thoughts scores than those with episodic tension-type headache. CONCLUSIONS: These findings suggested that persons with tension-type headache have high depression scores and also may have difficulty with expression of their emotions. Headache frequency appears to influence the likelihood of coexisting depression.     

Grip strength measurement for frailty assessment in patients with vascular disease and associations with comorbidity,cardiac risk,and sarcopenia

Objective

Frailty is associated with adverse events, length of stay, and nonhome discharge after vascular surgery. Frailty measures based on walking-based tests may be impractical or invalid for patients with walking impairment from symptoms or sequelae of vascular disease. We hypothesized that grip strength is associated with frailty, comorbidity, and cardiac risk among patients with vascular disease.

Novel Mutation in <Emphasis Type="Italic">CECR1</Emphasis> Leads to Deficiency of ADA2 with Associated Neutropenia

Purpose

Adenosine deaminase 2 (ADA2) have been reported to cause vasculitic diseases and immunodeficiency recently. Patients present with stroke episodes and rashes mimicking polyarteritis nodosa (PAN). We report a patient who has been followed up with severe neutropenia and found an unexpectedly revealed novel mutation in CECR1 affecting ADA2.

Methods

We reviewed medical records and clinical history of the patient. No mutations in other known neutropenia genes such as ELA, G6PC3, HAX1, AP3B1, LAMTOR2, VPS13B, VPS45, GFI1, JAGN1, or WAS could be detected. Sanger sequencing was used to confirm the genetic variants in the patient and relatives.

Results

Genetic analysis by exome sequencing revealed a novel mutation in the gene CECR1 (c.G962A; p.G321E) which segregated perfectly in the relatives.

Conclusion

This is the first DADA2 patient presenting with severe neutropenia. We suggest that in patients with unexplained cytopenias combined with immunodeficiency, fevers of unknown origin and high inflammation markers, DADA2 should be considered.