Genetic Characteristics, Infectious, and Noninfectious Manifestations of 32 Patients with Chronic Granulomatous Disease.

Background: Chronic granulomatous disease (CGD) is a rare genetic disorder characterized by failure of phagocytic leukocytes to destroy certain microbes. We present a study on CGD patients enrolled at a single medical center concerning the infectious and noninfectious complications and genetic properties of the disease.

Methods: Icotinamide adenine dinucleotide phosphate oxidase activity and the expression of flavocytochrome b558 were measured by flow cytometry, and clinical outcomes of the patients were listed in relation to the genetic results.

Modified Viscotrabeculotomy with Microcatheter: Our Technique and Experience in the Surgical management of Glaucoma.

Aims: To present the results of our case series with a technique we defined as "modified viscotrabeculotomy" which incorporates the benefits of 360° of trabeculotomy and viscodilation and viscodissection of canal of Schlemm using a microcatheter.

Materials And Methods: This study was designed as a prospective interventional case series and was conducted in Cerrahpasa Medical School Ophthalmology Clinic. Forty-one eyes of 30 patients diagnosed with congenital glaucoma (CG) underwent modified viscotrabeculotomy surgery following initial preoperative examination.

Mercury intoxication resembling pediatric rheumatic diseases: case series and literature review.

Mercury is the only metal that remains in liquid form at the room temperature. It is a very toxic metal and even short-term exposure can lead to poisoning. Mercury intoxication can affect many systems such as skin, cardiovascular, genitourinary, central and peripheral nervous, respiratory, and musculoskeletal system.

Prevalence and mortality of cancer among people living with HIV and AIDS patients: a large cohort study in Turkey.

Background: Cancer is responsible for elevated human immunodeficiency virus (HIV)-related mortality but there are insufficient data about cancer in HIV-positive patients in Turkey.

Aims: We aimed to investigate the prevalence and mortality of cancer among people living with HIVand AIDS patients in Istanbul, Turkey.

Methods: Between January 1998 and December 2016, people living with HIVand AIDS patients were enrolled in this study by the ACTHIV-IST Study Group, which consists of 5 centres to follow-up HIV-positive patients in Istanbul.

Comparison of the efficacy of physical examination and radiological imaging in detecting sacroiliitis in patients with juvenile spondyloarthropathies.

Objectives: To determine and compare the effectiveness of history, physical examination, conventional radiography and magnetic resonance imaging (MRI) in the detection of sacroiliitis in juvenile spondyloarthropathies.

Methods: One hundred and one patients with JSpA, 33 patients with other diseases and 24 children without rheumatologic complaints were included in the study. Subjects were evaluated using physical examination, laboratory findings, pelvic radiography and MRI.

How to treat myelodysplastic syndrome with clinical features resembling Behçet syndrome: a case-based systematic review.

The association between myelodysplastic syndrome (MDS) and Behçet syndrome (BS) is recognized for over 25 years. High frequency of trisomy 8 and intestinal ulcers are striking features of this association. There are no recommendations for how these patients should be treated.

The FRED for Cerebral Aneurysms of the Posterior Circulation: A Subgroup Analysis of the EuFRED Registry.

Background And Purpose: Flow diversion for the posterior circulation remains a promising treatment option for selected posterior circulation aneurysms. The Flow-Redirection Intraluminal Device (FRED) system has not been previously assessed in a large cohort of patients with posterior circulation aneurysms. The purpose of the present study was to assess safety and efficacy of FRED in this location.

Live attenuated MMR/V booster vaccines in children with rheumatic diseases on immunosuppressive therapy are safe: Multicenter, retrospective data collection.

Purpose: To collect retrospective data of patients with Juvenile Idiopathic Arthritis (JIA) and other rheumatic diseases who received live attenuated booster measles-mumps-rubella (MMR) or measles-mumps-rubella-varicella (MMR/V) during treatment with immunosuppressive therapy.

Results: Data from 13 pediatric rheumatology centers in 10 countries, including 234 patients, were collected. Mean age at diagnosis was 5 ± 2.

Takayasu's arteritis: associated inflammatory diseases.

Objectives: Case reports and series suggest that Takayasu's arteritis (TAK) can co-exist with other inflammatory disorders. We conducted a formal study to look specifically at the frequency of such inflammatory disorders in a large cohort of TAK followed by a single tertiary centre.

Methods: There were 238 patients registered with a diagnosis of TAK.

Proatherogenic Importance of Carbamylation-induced Protein Damage and Type 2 Diabetes Mellitus: A Systematic Review.

Introduction & Background: Protein carbamylation is a non-enzymatic and irreversible posttranslational process. It affects functions of numerous enzymes, hormones and receptors playing several roles in diabetes pathogenesis by changing their native structures. Detrimental consequences of oxidative protein damage comprise, but are not limited to glyoxidation, lipoxidation and carbonylation reactions.

Increased frequency of obstructive sleep apnea syndrome in Behçet's syndrome patients with superior vena cava syndrome.

Objectives: Superior vena cava syndrome (SVCS) is a medical emergency which can also be seen in Behçet's syndrome (BS). Having noted that BS patients with SVCS frequently complained of sleep disturbances, snoring and sleep apnea, suggesting obstructive sleep apnea (OSA), we formally surveyed the risk for OSA among BS patients.

Methods: We studied 28 patients, all male, with SVCS (Group 1), 129 with vascular involvement without a SVCS (Group 2) and 151 with no vascular involvement (Group 3).

Long term follow-up of Behçet's syndrome patients treated with cyclophosphamide.

Objectives: CYC remains an important treatment option for Behçet's syndrome (BS) patients with life-threatening manifestations. However, adverse events may occur with CYC and this has led to increased use of biologic agents in other vasculitides. We investigated short and long term adverse events associated with CYC use in BS patients.

Aortic involvement in relapsing polychondritis: case-based review.

Relapsing polychondritis is a systemic inflammatory disease that mainly affects ears, nose, eyes, joints, and large airway. Relapsing polychondritis may also affect cardiac valves and large vessels with the aorta being most frequently involved. We conducted a systematic literature review to delineate the clinical characteristics, treatment, and outcome of relapsing polychondritis patients with aortic involvement including thoracic and abdominal aorta, aortic valve, and coronary arteries.

Trial of Apremilast for Oral Ulcers in Behçet's Syndrome.

Background: The small-molecule phosphodiesterase 4 inhibitor apremilast modulates cytokines that are up-regulated in Behçet's syndrome. In a phase 2 trial involving patients with Behçet's syndrome, apremilast reduced the incidence and severity of oral ulcers. Data on the efficacy and safety of apremilast in patients with Behçet's syndrome who had active oral ulcers and had not previously received biologic agents are limited.

Elevation in optic nerve sheath diameter due to the pneumoperitoneum and Trendelenburg is associated to postoperative nausea, vomiting and headache in patients undergoing laparoscopic hysterectomy.

Background: Optic nerve sheath diameter (ONSD) measurement with ultrasound has emerged as a simple, non-invasive and reliable surrogate of invasive intracranial pressure (ICP) measurement. Increase in ICP might lead to postoperative nausea and vomiting (PONV) and postoperative headache. Here, we aimed to evaluate the extent of change in ONSD, resulting from pneumoperitoneum (PP) and Trendelenburg (TP) position during the laparoscopic hysterectomy (LH), by using ultrasonographic ONSD measurement.

Botulinum toxin injections to cranial sutures for chronic migraine Rewinding the technique using ultrasound imaging.

The treatment of chronic migraine headache is quite challenging and new alternatives are still being explored for its management. Onabotulinum toxin A (BoNT-A) applied into extracranial muscles has been shown to inhibit the release of acetylcholine and local nociceptive peptides at the sensory nerve endings. As the highest concentration of extracranial pain fibers are located at/nearby the sutures, extracranial applications of BoTN-A are suggested to be performed to sutures rather than into the head and neck muscles in the treatment of chronic migraine.

A novel FLCN mutation in family members diagnosed with primary spontaneous pneumothorax.

Background: Primary spontaneous pneumothorax (PSP) is a disease characterized by the accumulation of air in the pleural space between the lung and thoracic wall. It is more common in young, tall, thin, and asthenic men. A family history was reported for approximately 11.

A monogenic autoinflammatory disease with fatal vasculitis: deficiency of adenosine deaminase 2.

Purpose Of Review: To recap the expanding clinical spectrum, genotype-phenotype associations and treatment options in the light of recently published articles regarding the deficiency of adenosine deaminase 2 (DADA2).

Recent Findings: Whole-exome sequencing enabled novel clinical phenotypes associated with ADA2 mutations. Since its discovery, the phenotypic spectrum of DADA2 has substantially expanded to cover Diamond-Blackfan anaemia, cytopenia and immunodeficiency syndromes.