ILC3 deficiency and generalized ILC abnormalities in DOCK8-deficient patients.

Background: Dedicator of cytokinesis 8 (DOCK8) deficiency is the main cause of the autosomal recessive hyper-IgE syndrome (HIES). We previously reported the selective loss of group 3 innate lymphoid cell (ILC) number and function in a Dock8-deficient mouse model. In this study, we sought to test whether DOCK8 is required for the function and maintenance of ILC subsets in humans.

Hematopoietic Stem Cell Transplantation in Congenital Dyserythropetic Anemia Type II: A Case Report and Review of the Literature.

Currently, there is no guideline for the treatment of patients with congenital dyserythropoietic anemia (CDA) type II. One approach is to follow-up patients with transfusions, on the basis of individually determined target hemoglobin levels, and iron chelation according to the thalassemia guidelines. In some transfusion-dependent CDA II patients, splenectomy reduces the number of transfusions; however, the only known curative option for CDA II patients is hematopoietic stem cell transplantation (HSCT).

Current status of HIV/AIDS-syphilis co-infections: a retrospective multicentre study.

Objective: Treponema pallidum and HIV are transmitted frequently through sexual contact, these agents with epidemiological similarities co-infect the same host. The current number of HIV-infected cases in Turkey is increasing. For this reason, we aimed to reveal the characteristics of syphilis in HIV/AIDS cases.

Anti-IgE Significantly Changes Circulating Interleukin-25, Vitamin-D and Interleukin-33 Levels in Patients with Allergic Asthma.

Background: Multi-center, randomized-controlled trials and observational studies have demonstrated that, in severe asthmatic patients receiving omalizumab treatment, the frequency of exacerbations, the number of urgent adverse events, and the need for oral steroids tend to decrease.

Materials And Methods: This study included a total of 32 patients. The patients were divided into two groups as Group IA (pre-omalizumab) and Group IB (post-omalizumab).

Intracytoplasmic morphologically selected sperm injection, but for whom?

Intracytoplasmic sperm injection (ICSI) is performed in cases of infertility by injecting a motile and morphologically normal sperm cell under a routine ×400 magnification at which is hard to distinguish morphologically healthy sperm. Recently, the use of high-powered differential interference contrast optics gave the opportunity to select a sperm under ultra-high magnification of ×10,160. The aim of the present study was to evaluate the efficacy of the intracytoplasmic morphologically selected sperm injection (IMSI) technique in different infertility populations undergoing ICSI.

A Multi-Center Study on the Efficacy of Eltrombopag in Management of Refractory Chronic Immune Thrombocytopenia: A Real-Life Experience.

Objective: The aim of the present study was to evaluate the efficacy and safety of eltrombopag, an oral thrombopoietin receptor agonist, in patients with chronic immune thrombocytopenia (ITP).

Materials And Methods: A total of 285 chronic ITP patients (187 women, 65.6%; 98 men, 34.

Homozygous c.130-131 ins A (pW44X) mutation in the HAX1 gene as the most common cause of congenital neutropenia in Turkey: Report from the Turkish Severe Congenital Neutropenia Registry.

Background: Severe congenital neutropenia is a rare disease, and autosomal dominantly inherited ELANE mutation is the most frequently observed genetic defect in the registries from North America and Western Europe. However, in eastern countries where consanguineous marriages are common, autosomal recessive forms might be more frequent.

Method: Two hundred and sixteen patients with severe congenital neutropenia from 28 different pediatric centers in Turkey were registered.

Role of the Th1 and Th17 Pathway in Subacute Sclerosing Panencephalitis.

Subacute sclerosing panencephalitis (SSPE) is a progressive and fatal disease caused by reactivation of a mutated measles virus in brain tissue. The process of reactivation is yet to be elucidated. In this study, the possible roles of the Th1 (interleukin [IL]-12, interferon [IFN]-γ) and the Th17 axis (IL-23, IL-17, IL-22), particularly of IL-17, in the pathogenesis of SSPE were investigated.

Haploidentical hematopoietic stem cell transplantation with post-transplant high-dose cyclophosphamide in high-risk children: A single-center study.

Background: Post-Cy administration for GVHD prophylaxis in unmanipulated haploidentical HSCT has resulted in improved outcomes in recent years. Studies in children are lacking and accordingly we present the outcomes of 62 haploidentical transplantation for high-risk children.

Procedure: We retrospectively assessed 62 transplants in 60 patients who underwent haploidentical-related HSCT with unmanipulated stem cells and for whom Post-Cy was used for GVHD prophylaxis.

Successful WATCHMAN Device Implantation in a Patient with IVC Filter Thrombosis and Iliac Vein Occlusions.

Percutaneous left atrial appendage occlusion has been shown to be a safe and cost-effective treatment for stroke prevention in patients with nonvalvular atrial fibrillation with increased stroke and bleeding risk. Venous system might be occluded from prior procedures or have structural abnormalities. Herein, we present a successful WATCHMAN device implantation in a patient with inferior vena cava filter thrombosis and iliac vein occlusions.

Tissue HE4 Expression Discriminates the Ovarian Serous Carcinoma but Not the Uterine Serous Carcinoma Patients. A New Adjunct to the Origin of the Tumor Site.

Both uterine serous carcinoma (USC) and ovarian serous carcinoma (OSC) are presented at advanced stage at the first admittion and dissseminated disease makes the anatomical site of the tumor origin imposible. CA125 and p53 are reliable markers that are useful for differentiating both uterine serous and ovarian serous carcinoma from their most common subtypes (endometrioid type carcinoma of ovary and uterus) but so far there is no histopathologic marker that differentiates USC from OSC. On the other hand, Trastuzumab (Herceptin) increases progression-free survival among USC patients, but not OSC patients and makes the histopathologically assigning the origin of the tumor important.

Subtyping of non-small cell lung cancer by cytology specimens: A proposal for resource-poor hospitals.

Aim: Cancer diagnosis and treatment depend on pathology reports but naming a cancer is sometimes impossible without specialized techniques. We aimed to evaluate the sensitivity of cytological sub-classification of non-small cell lung carcinoma, not otherwise specified group (NSCLC-NOS) into Adenocarcinoma (AC) and Squamous cell carcinoma (SqCC) without using immunohistochemistry.

Methods: Endobronchial ultrasound guided fine-needle aspiration biopsies and cytology slides diagnosed as NSCLC-NOS between 2004- 2008 were reviewed retrospectively.

Heterozygous activating mutation in RAC2 causes infantile-onset combined immunodeficiency with susceptibility to viral infections.

Here we describe a 10-year-old girl with combined immunodeficiency presenting as recurring chest infections, lung disease and herpetic skin infections. The patient experienced two hematopoietic stem cell transplantations and despite full chimerism, she developed bone marrow aplasia due to adenovirus infection and died at post-transplant day 86. Immunologic investigation revealed low numbers of TRECs/KRECs, a severe reduction of memory B cells, absence of isohemagglutinins, and low IgG levels.

Diagnostic Value of MiR-125b as a Potential Biomarker for Stage I Lung Adenocarcinoma.

Background: We aimed at exploring biological functions of differentially expressed miRNAs during carcinogenesis, to identify miRNAs dysegulations involved in DNA repair mechanisms, and to evaluate potential of miRNAs as prognostic and diagnostic biomarkers for early lung adenocarcinomas (LAC).

Methods: We obtained 21 LAC and paired adjacent normal formalin-fixed, paraffinembedded lung tissues from patients who underwent curative resection for stage I LAC. We compared expression levels of eight miRNAs involved in the DNA repair mechanism between LAC and adjacent tissues.

Contralateral Limberg flap reconstruction for pilonidal disease recurrence.

To identify surgical techniques applied in case of recurrence in patients with pilonidal sinus, who have undergone primary treatment with Limberg flap, and to present our cases treated with Limberg flap reconstruction prepared from the contralateral gluteal region. Nine patients with recurrence out of 219 patients who underwent Limberg flap reconstruction between 2009 and 2016 at our clinics, and 6 patients who have been referred to our clinics with total 15 recurrence after primary Limberg flap reconstruction at other institutes were included in the study. Total excision and primary repair was applied in 3 patients while 2 patients underwent excision with lay open procedures.

Comminuted Distal Radial Fracture with Large Rotated Palmar Medial Osteochondral Fragment in the Joint.

Introduction: Intra-articular distal radius fractures have long been massively discussed in the literature, but regarding to fractures that possess rotated volar medial fragment in the joint a few amount papers has been written. In this article, we would like to emphasize the significance of the rotated palmar medial (lunate facet) fragment.

Case Report: A 39-year-old man fell from a height of about 3 m and landed on his right outstretched hand; within 40 min, he arrived at our clinic presenting with a severe pain and swelling in his right wrist.

Effectiveness of Platinum-Based Treatment for Triple Negative Metastatic Breast Cancer: a Meta-Analysis.

Background: Triple-negative breast cancer (TNBC) is a sub-group of breast cancers with a particularly poor prognosis. The results of studies investigating the role of platinum-based chemotherapy (PBC) in metastatic TNBC (mTNBC) have been conflicting. In this meta-analysis, our aim was to assess the effectiveness of PBCs for mTNBCs.

Isolated Superior Mesenteric Vein Tumor Thrombus in a Patient with Gastric Cancer.

Tumor thrombus in the portal vein can rarely originate from gastric cancer via hematogenous spread, with only few case reports published in the literature. Isolated superior mesenteric vein tumor thrombus in gastric cancer has not been previously reported. A 61-year-old male patient who had undergone distal gastrectomy and gastroenterostomy for gastric ulcer 20 years ago was diagnosed with an obstructive tumor originating from the gastroenterostomy anastomosis site on upper gastrointestinal endoscopy that was performed for complaints of fatigue, oral feeding problems, and anemia.

Allogeneic Stem Cell Transplantation from HLA-Mismatched Donors for Pediatric Patients with Acute Lymphoblastic Leukemia Treated According to the 2003 BFM and 2007 International BFM Studies: Impact of Disease Risk on Outcomes.

Allogeneic hematopoietic stem cell transplantation (HSCT) is beneficial for pediatric patients with relapsed or (very) high-risk acute lymphoblastic leukemia (ALL) in remission. A total of 1115 consecutive patients were included in the ALL SCT 2003 BFM study and the ALL SCT 2007 I-BFM study and were stratified according to relapse risk (standard versus high versus very high risk of relapse) and donor type (matched sibling versus matched donor versus mismatched donor). A total of 148 patients (60% boys; median age, 8.

Primary splenic angiosarcoma diagnosed after splenectomy for spontaneous rupture.

Primary splenic angiosarcoma is a rare abnormality and has a bad prognosis. It has unknown pathogenesis. This abnormality is usually presented by splenic rupture.

Hematopoietic Stem Cell Transplantation From Unrelated Donors in 2 Cases of Interleukin-10 Receptor Deficiency: Is Surgery Not a Requirement?

Mutations in interleukin-10 and its receptors cause infantile inflammatory bowel disease (IBD), a hyperinflammatory disorder characterized by severe, treatment-refractory colitis, multiple abscesses, and enterocutaneous fistulas. Patients with infantile IBD often require several surgical interventions, including complete colectomy, and hematopoietic stem cell transplantation is currently the only known medical therapy. Traditionally, operative management has been preferred before stem cell transplantation because of the latter's increased susceptibility to procedural complications; however, surgical intervention could be delayed, and possibly reconsidered, because our 2 patients with infantile IBD demonstrated a rapid response to treatment via engraftment.

Chronic neutrophilic leukemia, an extremely rare cause of neutrophilia in childhood: Cure with hematopoietic stem cell transplantation.

CNL is a rare myeloproliferative disorder frequently seen in older adults. A significant proportion of patients show progression to AML. Here, we report the case of a patient with FA who was monitored for leukopenia but who developed leukocytosis during the follow-up and was diagnosed with CNL probably after an acquired CSF3R mutation.

Posterior Shoulder Dislocation Associated With the Head (Splitting) and Humeral Neck Fracture: Impact of Understanding Radiologic Signs and Experience With an Extended Deltopectoral Approach.

In this paper, our main objective was to emphasize the competency of extended deltopectoral exposure, enforced with the supraspinatus and subscapularis detachment, to gain access to the entire head. The second important point in this paper was to underline the importance of the knowledge that is necessary for interpreting classic radiologic signs of posterior fracture-dislocation of the shoulder. A 47-year-old woman fell down directly onto her shoulder while she was skiing.